PMID: 31681433

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers in genetics
S Glentis, AC Dimopoulos, K Rouskas, G Ntritsos, E Evangelou, SA Narod, AM Mes-Masson, WD Foulkes, B Rivera, PN Tonin, J Ragoussis, AS Dimas
2019

1748 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-47303964-A-G MADD c.1502A>G p.Asn501Ser Missense 9/33 -
22-19226874-T-C CLTCL1 c.719A>G p.Asn240Ser Missense 5/33 -
3-184910078-G-A EHHADH c.1820C>T p.Ser607Phe Missense 7/7 -
17-21203961-G-A MAP2K3 c.270G>A p.Met90Ile Missense 4/12 -
10-70760271-T-C KIF1BP c.518T>C p.Met173Thr Missense 2/7 -
11-5364175-G-A OR51B5 c.580C>T p.Arg194* Nonsense 5/5 -
2-234113242-C-G INPP5D c.3365C>G - missense_variant 27/28 -
7-48237906-G-C ABCA13 c.236G>C p.Gly79Ala Missense 3/62 -
13-32910603-CC-C BRCA2 c.2111delC p.Pro704Glnfs*26 Frameshift 11/27 -
17-7579577-G-A TP53 c.110C>T p.Ser37Phe Missense 4/11 -
14-96730863-C-G BDKRB1 c.844C>G p.Arg282Gly Missense 3/3 -
1-78958451-A-T PTGFR c.23A>T p.Gln8Leu Missense 2/3 -
11-56258341-C-A OR5M8 c.506G>T p.Gly169Val Missense 1/1 -
11-6891726-C-G OR10A2 c.741C>G p.Phe247Leu Missense 1/1 -
15-72119273-G-A MYO9A c.7295C>T p.Ser2432Leu Missense 42/42 -
1-204944417-G-A NFASC c.1577G>A p.Arg526Gln Missense 15/30 -
17-7578372-A-T TP53 c.558T>A p.Asp186Glu Missense 5/11 -
19-39062686-G-A RYR1 c.13774G>A p.Asp4592Asn Missense 95/106 -
2-228173636-A-G COL4A3 c.4484A>G p.Gln1495Arg Missense 49/52 -
22-18178965-G-A BCL2L13 c.445G>A p.Gly149Ser Missense 5/7 -
2-239013472-G-A ESPNL c.661G>A p.Val221Ile Missense 3/9 -
6-148855036-C-T SASH1 c.1864C>T p.Arg622Cys Missense 15/20 -
5-139747113-A-G SLC4A9 c.2122A>G p.Met708Val Missense 15/22 -
17-74073094-G-T GALR2 c.746G>T p.Trp249Leu Missense 2/2 -
1-53580635-C-T SLC1A7 c.226G>A p.Gly76Arg Missense 3/11 -
17-41139295-G-A RUNDC1 c.521G>A p.Arg174His Missense 2/5 -
19-42914668-G-A LIPE c.1210C>T p.Arg404Cys Missense 2/10 -
12-9908952-C-T CD69 c.128G>A p.Cys43Tyr Missense 2/5 -
13-32900238-T-TG BRCA2 c.426_427insG - SpliceAcceptorInsertion 5/27 -
13-32900238-T-TA BRCA2 c.426_427insA - SpliceAcceptorInsertion 5/27 -
1-227216822-C-T CDC42BPA c.3620G>A p.Arg1207Gln Missense 28/35 -
11-1769085-G-A IFITM10 c.349C>T p.Arg117Trp Missense 2/3 -
17-7579574-T-C TP53 c.113A>G p.Gln38Arg Missense 4/11 -
7-151680202-A-G GALNTL5 c.500A>G p.Glu167Gly Missense 4/9 -
17-37879812-AG-TT ERBB2 c.2107_2108delAGinsTT p.Ser703Phe Missense 18/27 -
12-56637583-G-C ANKRD52 c.2966C>G p.Ala989Gly Missense 27/28 -
8-100844615-A-G VPS13B c.9424A>G p.Ser3142Gly Missense 52/62 -
13-32907516-CT-AG BRCA2 c.1901_1902delCTinsAG p.Ala634Glu Missense 10/27 -
19-54672316-A-G TMC4 c.551T>C p.Met184Thr Missense 4/15 -
3-69087870-C-A TMF1 c.1996G>T p.Glu666* Nonsense 8/17 -
2-43927245-C-T PLEKHH2 c.1148C>T p.Ser383Leu Missense 8/30 -
12-102158877-C-T GNPTAB c.1818G>A p.Met606Ile Missense 13/21 -
20-1629967-G-A SIRPG c.161C>T p.Thr54Ile Missense 2/6 -
11-124747839-G-T ROBO3 c.2993G>T p.Gly998Val Missense 21/28 -
16-2120559-G-T TSC2 c.1819G>T p.Ala607Ser Missense 17/42 -
11-68181342-T-C LRP5 c.2689T>C p.Ser897Pro Missense 12/23 -
2-232392957-G-T NMUR1 c.775C>A p.Arg259Arg Synonymous 2/3 -
17-7671351-G-C DNAH2 c.3809G>C p.Arg1270Pro Missense 23/86 -
21-43161252-G-A RIPK4 c.2101C>T p.Pro701Ser Missense 8/8 -
19-9020771-G-T MUC16 c.37331C>A p.Ser12444Tyr Missense 20/84 -
2-113514767-T-C CKAP2L c.181A>G p.Thr61Ala Missense 4/9 -
2-169764285-C-A G6PC2 c.764C>A p.Pro255His Missense 5/5 -
7-4153885-C-T SDK1 c.3802C>T p.Arg1268Trp Missense 25/45 -
10-3181157-G-A PITRM1 c.2859C>T p.Ile953Ile Synonymous 25/27 -
4-2941317-G-A NOP14 c.2255C>T p.Pro752Leu Missense 16/19 -
X-15307659-T-A ASB11 c.559A>T p.Arg187Trp Missense 5/7 -
16-72984832-C-G ZFHX3 c.2752G>C p.Gly918Arg Missense 3/10 -
16-72984832-C-T ZFHX3 c.2752G>A p.Gly918Arg Missense 3/10 -
11-66619301-C-A PC c.1942G>T p.Ala648Ser Missense 16/23 -
1-235922671-T-G LYST c.6482A>C p.Glu2161Ala Missense 23/53 -
X-48823056-G-C KCND1 c.1396C>G p.Leu466Val Missense 4/6 -
5-118850709-G-A HSD17B4 c.1471G>A p.Ala491Thr Missense 17/24 -
13-32900238-T-TT BRCA2 c.426dupT - SpliceAcceptorInsertion 5/27 -
5-5186275-G-A ADAMTS16 c.874G>A p.Val292Met Missense 5/23 -
18-74728772-A-G MBP c.177+16T>C - IntronicSNV - 1/6
2-232392957-G-A NMUR1 c.775C>T p.Arg259Trp Missense 2/3 -
17-7671351-G-A DNAH2 c.3809G>A p.Arg1270His Missense 23/86 -
12-49373410-T-A WNT1 c.264T>A p.Ser88Arg Missense 2/4 -
19-1818839-G-A REXO1 c.2768C>T p.Ala923Val Missense 9/16 -
3-130380745-A-G COL6A6 c.6095A>G p.Glu2032Gly Missense 34/36 -
9-104187894-A-G ALDOB c.640T>C p.Tyr214His Missense 7/9 -
11-47663996-C-T MTCH2 c.22G>A p.Val8Met Missense 1/13 -
11-63992434-C-A TRPT1 c.19G>T p.Val7Leu Missense 3/7 -
10-102089635-C-A PKD2L1 c.226G>T p.Gly76Cys Missense 1/16 -
11-63992434-C-T TRPT1 c.19G>A p.Val7Met Missense 3/7 -
22-19187327-T-C CLTCL1 c.3791A>G p.Gln1264Arg Missense 24/33 -
1-146672745-T-C FMO5 c.1172A>G p.Gln391Arg Missense 7/9 -
1-146672745-T-G FMO5 c.1172A>C p.Gln391Pro Missense 7/9 -
2-238289984-C-G COL6A3 c.1471G>C p.Asp491His Missense 5/44 -
1-120468201-A-T NOTCH2 c.4238T>A p.Leu1413His Missense 25/34 -
4-187118692-G-A CYP4V2 c.610G>A p.Ala204Thr Missense 5/11 -
17-72931898-T-C OTOP3 c.2T>C p.Met1Thr Missense 1/7 -
10-102057293-C-T PKD2L1 c.802G>A p.Gly268Ser Missense 5/16 -
17-37865699-CG-AA ERBB2 c.568_569delCGinsAA p.Arg190Lys Missense 4/27 -
11-66468196-C-T SPTBN2 c.3374G>A p.Arg1125Gln Missense 16/37 -
12-55420584-C-G NEUROD4 c.361C>G p.Gln121Glu Missense 2/2 -
11-26463582-C-T ANO3 c.164C>T p.Ser55Phe Missense 2/27 -
19-5604875-T-C SAFB2 c.1369A>G p.Thr457Ala Missense 10/21 -
5-131931472-G-A RAD50 c.2177G>A p.Arg726His Missense 13/25 -
2-109421358-A-G CCDC138 c.749A>G p.Glu250Gly Missense 7/15 -
17-7578251-TTT-T TP53 c.598_599delAA p.Asn200Phefs*8 Frameshift 6/11 -
11-56258314-C-T OR5M8 c.533G>A p.Cys178Tyr Missense 1/1 -
13-103701690-G-A SLC10A2 c.868C>T p.Pro290Ser Missense 5/6 -
13-32893421-CAA-C BRCA2 c.275_276delAA p.Gln92Leufs*8 Frameshift 3/27 -
4-48583490-C-T FRYL c.2119G>A p.Val707Ile Missense 21/64 -
8-17510766-C-G MTUS1 c.3313G>C p.Glu1105Gln Missense 12/15 -
19-17062930-G-A CPAMD8 c.2498C>T p.Ser833Phe Missense 20/42 -
13-32899296-C-T BRCA2 c.400C>T p.Leu134Phe Missense 4/27 -
22-45258168-G-A PRR5-ARHGAP8 c.1388G>A - missense_variant 15/15 -
12-56090739-C-T ITGA7 c.1681G>A p.Val561Met Missense 12/25 -
20-10393439-C-A MKKS c.724G>T p.Ala242Ser Missense 3/6 -
11-121440937-T-C SORL1 c.3295T>C p.Phe1099Leu Missense 23/48 -
2-179482089-C-T TTN c.40019G>A p.Arg13340His Missense 203/312 -
3-195300740-C-G APOD c.226G>C p.Val76Leu Missense 3/5 -
22-43015795-C-T CYB5R3 c.890G>A p.Arg297His Missense 9/9 -
1-52442588-C-T RAB3B c.202G>A p.Glu68Lys Missense 2/5 -
19-17088196-C-G CPAMD8 c.1740G>C - missense_variant 15/42 -
12-8990937-C-T A2ML1 c.861C>T p.Asp287Asp Synonymous 9/36 -
12-8990937-C-A A2ML1 c.861C>A p.Asp287Glu Missense 9/36 -
6-75831080-C-T COL12A1 c.7024G>A p.Val2342Ile Missense 44/66 -
7-4153885-C-A SDK1 c.3802C>A p.Arg1268Arg Synonymous 25/45 -
12-6952375-G-A GNB3 c.241G>A p.Val81Met Missense 5/10 -
12-6952375-G-T GNB3 c.241G>T p.Val81Leu Missense 5/10 -
2-168110876-C-A XIRP2 c.*240C>A - IntronicSNV 11/11 -
2-168110876-C-G XIRP2 c.*240C>G - IntronicSNV 11/11 -
10-126683099-G-A CTBP2 c.719C>T p.Ser240Phe Missense 7/11 -
14-105609400-G-A JAG2 c.3349C>T p.Arg1117Trp Missense 26/26 -
11-17631453-C-T OTOG c.4642C>T p.Leu1548Phe Missense 35/55 -
17-5389469-T-C DERL2 c.13A>G p.Ser5Gly Missense 1/7 -
11-118531367-A-G TREH c.983T>C p.Ile328Thr Missense 10/16 -
18-33795564-C-T MOCOS c.1421C>T p.Thr474Met Missense 8/15 -
18-33795564-C-A MOCOS c.1421C>A p.Thr474Lys Missense 8/15 -
1-6635259-C-G TAS1R1 c.1067C>G p.Ser356Cys Missense 3/6 -
11-2946317-C-T SLC22A18 c.1165C>T p.Arg389Cys Missense 11/11 -
11-118531367-A-T TREH c.983T>A p.Ile328Asn Missense 10/16 -
7-2317934-G-C SNX8 c.101C>G p.Pro34Arg Missense 2/11 -
8-6389998-T-A ANGPT2 c.299A>T p.Tyr100Phe Missense 2/9 -
11-63884416-G-A FLRT1 c.677G>A p.Arg226His Missense 2/2 -
7-2317934-G-A SNX8 c.101C>T p.Pro34Leu Missense 2/11 -
11-63884416-G-T FLRT1 c.677G>T p.Arg226Leu Missense 2/2 -
15-48559812-G-A SLC12A1 c.2209G>A p.Ala737Thr Missense 18/27 -
16-68855966-G-T CDH1 c.1774G>T p.Ala592Ser Missense 12/16 -
16-68855966-G-A CDH1 c.1774G>A p.Ala592Thr Missense 12/16 -
15-86076823-T-G AKAP13 c.190T>G p.Cys64Gly Missense 4/37 -
1-152190873-G-A HRNR c.3232C>T p.Gln1078* Nonsense 3/3 -
8-141672767-T-A PTK2 c.3012+2249A>T - IntronicSNV - 31/31
8-141672767-T-C PTK2 c.3012+2249A>G - IntronicSNV - 31/31
7-103197603-G-A RELN c.5618C>T p.Thr1873Ile Missense 38/65 -
1-216465694-G-C USH2A c.1663C>G p.Leu555Val Missense 10/21 -
20-62839672-C-G MYT1 c.1123C>G p.Arg375Gly Missense 7/23 -
20-62839672-C-T MYT1 c.1123C>T p.Arg375Trp Missense 7/23 -
12-51739625-C-T CELA1 c.53G>A p.Arg18His Missense 2/8 -
12-51739625-C-A CELA1 c.53G>T p.Arg18Leu Missense 2/8 -
3-57893682-G-A SLMAP c.1471G>A p.Glu491Lys Missense 15/21 -
5-26885797-T-C CDH9 c.1808A>G p.Glu603Gly Missense 11/12 -
2-220431630-C-T OBSL1 c.2056G>A p.Val686Ile Missense 5/9 -
17-37864647-G-A ERBB2 c.299G>A p.Arg100Gln Missense 3/27 -
12-52845481-G-C KRT6B c.382C>G p.Pro128Ala Missense 1/9 -
12-124402341-C-T DNAH10 c.10859C>T p.Thr3620Ile Missense 63/78 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
1-55518412-C-A PCSK9 c.747C>A p.Ser249Arg Missense 5/12 -
12-111291255-C-T CCDC63 c.56C>T p.Ser19Leu Missense 3/12 -
1-175325592-C-T TNR c.2981G>A p.Gly994Glu Missense 16/23 -
4-8620201-C-G CPZ c.1516C>G p.Pro506Ala Missense 9/10 -
1-175375513-G-A TNR c.338C>T p.Thr113Ile Missense 3/23 -
19-17831206-G-A MAP1S c.119-539G>A - IntronicSNV - 1/6
9-77377724-C-T TRPM6 c.3863G>A p.Gly1288Glu Missense 26/39 -
19-18120757-G-A ARRDC2 c.758G>A p.Arg253Gln Missense 5/8 -
17-37864593-G-T ERBB2 c.245G>T p.Gly82Val Missense 3/27 -
6-32049177-C-G TNXB c.4010G>C p.Arg1337Pro Missense 10/44 -
6-32049177-C-A TNXB c.4010G>T p.Arg1337Leu Missense 10/44 -
19-1923155-C-T SCAMP4 c.482C>T p.Ser161Leu Missense 6/7 -
20-46279918-C-T NCOA3 c.3832C>T p.Pro1278Ser Missense 20/23 -
16-72984832-C-A ZFHX3 c.2752G>T p.Gly918Trp Missense 3/10 -
5-79030623-C-T CMYA5 c.6035C>T p.Ser2012Phe Missense 2/13 -
5-79030623-C-G CMYA5 c.6035C>G p.Ser2012Cys Missense 2/13 -
22-42910722-G-A RRP7A c.524C>T p.Thr175Met Missense 5/7 -
15-78893923-A-G CHRNA3 c.1061T>C p.Met354Thr Missense 5/6 -
6-32049177-C-T TNXB c.4010G>A p.Arg1337His Missense 10/44 -
15-41148251-G-A SPINT1 c.1279G>A p.Gly427Ser Missense 9/11 -
5-167653121-G-T TENM2 c.5110G>T p.Val1704Leu Missense 25/30 -
3-14199940-C-A XPC c.1443G>T p.Lys481Asn Missense 9/16 -
1-152193195-G-A HRNR c.910C>T p.Arg304Cys Missense 3/3 -
17-76133356-G-C TMC8 c.1168G>C p.Val390Leu Missense 10/16 -
12-88519133-C-T CEP290 c.1079G>A p.Arg360Gln Missense 13/54 -
6-10874905-A-C GCM2 c.844T>G p.Tyr282Asp Missense 5/5 -
X-19398315-C-T MAP3K15 c.2512G>A p.Gly838Ser Missense 19/29 -
19-49409101-G-A NUCB1 c.335G>A p.Arg112Gln Missense 4/13 -
17-37864772-C-T ERBB2 c.424C>T p.Leu142Phe Missense 3/27 -
11-116636108-G-A BUD13 c.292C>T p.Arg98Cys Missense 3/10 -
17-73729629-C-T ITGB4 c.1513C>T p.Arg505Trp Missense 13/40 -
11-116636108-G-T BUD13 c.292C>A p.Arg98Ser Missense 3/10 -
15-89382103-G-C ACAN c.280G>C p.Val94Leu Missense 3/16 -
15-89382103-G-T ACAN c.280G>T p.Val94Leu Missense 3/16 -
16-9857547-C-T GRIN2A c.3854G>A p.Arg1285Lys Missense 14/14 -
5-140221071-G-T PCDHA1 c.2394+52802G>T - IntronicSNV - 1/3
16-9857547-C-A GRIN2A c.3854G>T p.Arg1285Met Missense 14/14 -
3-52436832-C-G BAP1 c.1946G>C p.Cys649Ser Missense 15/17 -
22-46760125-A-G CELSR1 c.8803T>C p.Tyr2935His Missense 34/35 -
19-11363634-C-G DOCK6 c.133G>C p.Val45Leu Missense 3/48 -
4-107847026-C-A DKK2 c.303G>T p.Met101Ile Missense 2/4 -
7-151848538-G-C KMT2C c.12655C>G p.Leu4219Val Missense 50/59 -
16-2980747-C-T FLYWCH1 c.659C>T p.Pro220Leu Missense 4/10 -
11-6891809-T-C OR10A2 c.824T>C p.Ile275Thr Missense 1/1 -
12-6859407-T-C MLF2 c.335A>G p.Asn112Ser Missense 6/9 -
15-33954490-T-C RYR3 c.4759T>C p.Ser1587Pro Missense 35/104 -
15-33954490-T-A RYR3 c.4759T>A p.Ser1587Thr Missense 35/104 -
12-123339487-C-G HIP1R c.754C>G p.Arg252Gly Missense 9/32 -
3-183818224-G-A HTR3E c.64G>A p.Glu22Lys Missense 1/8 -
2-203995185-G-T NBEAL1 c.3463G>T p.Glu1155* Nonsense 24/55 -
13-32907450-A-T BRCA2 c.1835A>T p.Glu612Val Missense 10/27 -
13-32900675-G-C BRCA2 c.556G>C p.Ala186Pro Missense 7/27 -
2-46707851-G-A TMEM247 c.425G>A p.Arg142Gln Missense 2/3 -
1-197091124-C-T ASPM c.3791G>A p.Arg1264His Missense 16/28 -
2-33572566-G-A LTBP1 c.3989G>A p.Arg1330Gln Missense 26/34 -
19-35741258-C-T LSR c.294C>T p.Tyr98Tyr Synonymous 2/9 -
4-6862665-G-T KIAA0232 c.556G>T p.Val186Phe Missense 7/10 -
10-7290605-C-T SFMBT2 c.877G>A p.Ala293Thr Missense 8/21 -
12-117669852-G-A NOS1 c.3320C>T p.Thr1107Met Missense 22/29 -
17-37868669-GG-G ERBB2 c.1116delG p.Ser373Alafs*58 Frameshift 9/27 -
2-179600475-C-T TTN c.10966G>A p.Ala3656Thr Missense 47/312 -
7-4801973-G-C FOXK1 c.2080G>C p.Ala694Pro Missense 9/9 -
7-4801973-G-A FOXK1 c.2080G>A p.Ala694Thr Missense 9/9 -
8-17882958-C-T PCM1 c.5930C>T p.Ser1977Leu Missense 37/39 -
19-13993764-G-A C19orf57 c.1765C>T p.Arg589Trp Missense 8/8 -
X-48923285-C-T CCDC120 c.865C>T p.Arg289Cys Missense 9/10 -
3-50391167-C-T CYB561D2 c.661C>T p.Gln221* Nonsense 4/4 -
1-41474343-G-A CTPS1 c.1406G>A p.Gly469Glu Missense 15/19 -
2-233990592-A-C INPP5D c.487A>C p.Thr163Pro Missense 4/28 -
18-72234625-C-A CNDP1 c.713C>A p.Ala238Glu Missense 6/12 -
17-38935980-C-T KRT27 c.818G>A p.Arg273Lys Missense 4/8 -
18-72234625-C-T CNDP1 c.713C>T p.Ala238Val Missense 6/12 -
19-13059563-G-A RAD23A c.536G>A p.Arg179Gln Missense 5/9 -
17-72851210-C-T GRIN2C c.22G>A p.Ala8Thr Missense 2/13 -
20-60886089-G-C LAMA5 c.10150C>G p.Arg3384Gly Missense 74/80 -
6-17602826-G-T FAM8A1 c.718G>T p.Glu240* Nonsense 2/5 -
8-98731338-G-A MTDH c.1442G>A p.Arg481His Missense 10/12 -
7-100205706-G-C PCOLCE c.1330G>C p.Ala444Pro Missense 9/9 -
19-49564639-G-A NTF4 c.616C>T p.Arg206Trp Missense 2/2 -
7-107626756-G-C LAMB1 c.476C>G p.Thr159Ser Missense 6/34 -
7-117292931-C-G CFTR c.3909C>G p.Asn1303Lys Missense 24/27 -
22-39884847-G-C MGAT3 c.1495G>C p.Asp499His Missense 2/2 -
1-26189517-C-T PAQR7 c.814G>A p.Gly272Arg Missense 2/2 -
14-67390981-A-G GPHN c.800A>G p.Asn267Ser Missense 8/23 -
17-27896342-C-G TP53I13 c.148C>G p.Pro50Ala Missense 3/7 -
12-130648429-G-A FZD10 c.942G>A p.Leu314Leu Synonymous 1/1 -
2-219562237-A-G STK36 c.2750A>G p.Gln917Arg Missense 24/27 -
19-11332560-G-A DOCK6 c.3517C>T p.Arg1173Trp Missense 28/48 -
14-21549035-C-A ARHGEF40 c.358C>A p.Arg120Ser Missense 13/24 -
16-67338357-A-T KCTD19 c.418T>A p.Ser140Thr Missense 3/16 -
16-67338357-A-G KCTD19 c.418T>C p.Ser140Pro Missense 3/16 -
2-204000802-G-C NBEAL1 c.4129G>C p.Gly1377Arg Missense 27/55 -
19-41515255-C-A CYP2B6 c.777C>A p.Ser259Arg Missense 5/9 -
19-1061830-G-T ABCA7 c.5513G>T p.Arg1838Leu Missense 41/47 -
17-7579713-T-C TP53 c.83A>G p.Glu28Gly Missense 3/11 -
3-47307226-A-T KIF9 c.910T>A p.Ser304Thr Missense 9/22 -
8-105080802-G-A RIMS2 c.3334+53959G>A - IntronicSNV - 19/23
7-44098033-C-T DBNL c.710C>T p.Thr237Met Missense 8/13 -
5-89979871-G-A ADGRV1 c.6133G>A p.Gly2045Arg Missense 28/90 -
1-185704020-G-A HMCN1 c.109G>A p.Glu37Lys Missense 1/107 -
4-77230712-G-A FAM47E-STBD1 c.*386G>A - 3-UTRSNV 7/7 -
2-179600475-C-A TTN c.10966G>T p.Ala3656Ser Missense 47/312 -
19-42813971-C-T PRR19 c.235C>T p.His79Tyr Missense 2/3 -
4-88235068-G-C HSD17B13 c.602C>G p.Ser201* Nonsense 5/7 -
16-15163979-G-T RRN3 c.1392C>A p.Phe464Leu Missense 14/18 -
1-887938-G-A NOC2L c.1045C>T p.Pro349Ser Missense 10/19 -
13-32912081-A-G BRCA2 c.3589A>G p.Lys1197Glu Missense 11/27 -
14-21549035-C-T ARHGEF40 c.358C>T p.Arg120Cys Missense 13/24 -
7-151902197-C-G KMT2C c.3955G>C p.Asp1319His Missense 25/59 -
17-36091625-G-T HNF1B c.1006C>A p.His336Asn Missense 4/9 -
10-103343423-G-T POLL c.907C>A p.Pro303Thr Missense 6/9 -
10-103343423-G-A POLL c.907C>T p.Pro303Ser Missense 6/9 -
11-126162665-C-T TIRAP c.361C>T p.Arg121Trp Missense 5/5 -
19-1061830-G-A ABCA7 c.5513G>A p.Arg1838His Missense 41/47 -
X-117805080-C-T DOCK11 c.5171C>T p.Pro1724Leu Missense 46/53 -
16-67237476-C-G ELMO3 c.1940C>G - missense_variant 19/20 -
4-1980565-C-G NSD2 c.4027C>G p.Pro1343Ala Missense 24/24 -
13-32905149-AGA-TGG BRCA2 c.775_777delAGAinsTGG p.Arg259Trp Missense 9/27 -
15-78911138-T-C CHRNA3 c.202A>G p.Met68Val Missense 2/6 -
3-48677452-C-T CELSR3 c.9566G>A p.Arg3189Gln Missense 34/35 -
12-130647809-G-A FZD10 c.322G>A p.Val108Ile Missense 1/1 -
2-97531651-G-A SEMA4C c.274C>T p.Pro92Ser Missense 4/15 -
12-130647809-G-T FZD10 c.322G>T p.Val108Phe Missense 1/1 -
13-32911824-T-C BRCA2 c.3332T>C p.Ile1111Thr Missense 11/27 -
10-24762833-G-A KIAA1217 c.1523G>A p.Arg508His Missense 6/21 -
2-96933097-C-T CIAO1 c.178C>T p.His60Tyr Missense 2/7 -
1-43787367-G-A TIE1 c.3326G>A p.Arg1109His Missense 22/23 -
10-24762833-G-T KIAA1217 c.1523G>T p.Arg508Leu Missense 6/21 -
15-66621382-G-A DIS3L c.2027G>A p.Arg676His Missense 13/17 -
6-32726794-C-G HLA-DQB2 c.479G>C p.Arg160Pro Missense 3/5 -
7-6049010-G-C AIMP2 c.16G>C p.Val6Leu Missense 1/4 -
6-32726794-C-T HLA-DQB2 c.479G>A p.Arg160Gln Missense 3/5 -
5-96112237-A-G ERAP1 c.2689T>C p.Ser897Pro Missense 19/20 -
2-39239286-G-T SOS1 c.2371C>A p.Leu791Ile Missense 14/23 -
22-38877244-G-C KDELR3 c.379G>C p.Glu127Gln Missense 4/5 -
5-72865362-G-T UTP15 c.409G>T p.Val137Leu Missense 5/13 -
3-48677191-G-A CELSR3 c.9827C>T p.Pro3276Leu Missense 34/35 -
7-4051764-A-C SDK1 c.2317A>C p.Lys773Gln Missense 16/45 -
6-148855036-C-A SASH1 c.1864C>A p.Arg622Ser Missense 15/20 -
19-19646458-A-G YJEFN3 c.664A>G p.Ile222Val Missense 6/7 -
15-33022994-C-G GREM1 c.103C>G p.Pro35Ala Missense 2/2 -
6-33283570-A-T ZBTB22 c.1124T>A p.Val375Asp Missense 2/2 -
17-7579867-TGACT-T TP53 c.45_48delTCAG p.Ser15Argfs*28 Frameshift 2/11 -
17-7667554-C-T DNAH2 c.3299C>T p.Ala1100Val Missense 20/86 -
17-7578269-G-A TP53 c.580C>T p.Leu194Phe Missense 6/11 -
9-414863-A-G DOCK8 c.3612A>G p.Lys1204Lys Synonymous 29/48 -
3-48677191-G-T CELSR3 c.9827C>A p.Pro3276His Missense 34/35 -
2-198949074-C-T PLCL1 c.833C>T p.Ala278Val Missense 2/6 -
1-198718604-G-A PTPRC c.2998G>A p.Asp1000Asn Missense 28/33 -
6-31134122-A-C POU5F1 c.406-298T>G - IntronicSNV - 1/4
6-31134122-A-G POU5F1 c.406-298T>C - IntronicSNV - 1/4
17-80203891-C-T CSNK1D c.1222G>A p.Gly408Ser Missense 9/10 -
17-7579532-TTGTTCAATAT-T TP53 c.148_157delATTGAACAAT p.Ile50Glyfs*70 Frameshift 4/11 -
18-2925359-C-T LPIN2 c.1801G>A p.Glu601Lys Missense 14/20 -
12-88454728-A-G CEP290 c.6401T>C p.Ile2134Thr Missense 47/54 -
2-128389835-G-A MYO7B c.5186G>A p.Arg1729Gln Missense 38/47 -
1-167038251-G-A GPA33 c.323C>T p.Thr108Ile Missense 3/7 -
12-56092638-G-C ITGA7 c.854C>G p.Ala285Gly Missense 6/25 -
12-56092638-G-A ITGA7 c.854C>T p.Ala285Val Missense 6/25 -
19-19645843-G-A YJEFN3 c.319G>A p.Ala107Thr Missense 4/7 -
22-24709420-C-T SPECC1L c.293C>T p.Ser98Phe Missense 4/17 -
3-195300740-C-T APOD c.226G>A p.Val76Met Missense 3/5 -
3-50368118-C-T RASSF1 c.464G>A p.Arg155His Missense 5/5 -
2-68613814-A-G PLEK c.653A>G p.Tyr218Cys Missense 5/9 -
2-152471058-A-G NEB c.10604T>C p.Ile3535Thr Missense 74/150 -
1-153658297-G-A NPR1 c.1621G>A p.Gly541Ser Missense 9/22 -
2-116066882-T-C DPP10 c.128T>C p.Leu43Ser Missense 2/26 -
4-134072821-G-A PCDH10 c.1526G>A p.Gly509Asp Missense 1/5 -
17-75398327-C-T SEPT9 c.209C>T p.Ala70Val Missense 2/11 -
17-41143549-C-G RUNDC1 c.1658C>G p.Ser553Cys Missense 5/5 -
1-41283849-T-C KCNQ4 c.419T>C p.Ile140Thr Missense 3/14 -
6-17764896-G-C KIF13A c.4758C>G p.Asp1586Glu Missense 38/38 -
12-53700853-G-A C12orf10 c.1051G>A p.Gly351Ser Missense 7/7 -
3-129289978-G-A PLXND1 c.3505C>T p.Arg1169Cys Missense 18/36 -
3-129289978-G-T PLXND1 c.3505C>A p.Arg1169Ser Missense 18/36 -
16-75276547-T-C BCAR1 c.454A>G p.Thr152Ala Missense 2/7 -
17-5066289-C-G USP6 c.3026C>G p.Ser1009Cys Missense 25/30 -
20-34067860-C-T CEP250 c.2476C>T p.Arg826Trp Missense 20/35 -
17-76133356-G-A TMC8 c.1168G>A p.Val390Ile Missense 10/16 -
17-5066289-C-T USP6 c.3026C>T p.Ser1009Phe Missense 25/30 -
22-44368856-C-T SAMM50 c.535C>T p.Pro179Ser Missense 6/15 -
22-44368856-C-G SAMM50 c.535C>G p.Pro179Ala Missense 6/15 -
12-6566659-C-T TAPBPL c.653C>T p.Pro218Leu Missense 4/7 -
1-27875286-T-C AHDC1 c.3341A>G p.Tyr1114Cys Missense 6/7 -
10-16967417-T-C CUBN c.6469A>G p.Asn2157Asp Missense 43/67 -
18-65179687-T-C DSEL c.2189A>G p.Asp730Gly Missense 2/2 -
15-45393430-G-A DUOX2 c.2894C>T p.Ser965Leu Missense 22/34 -
9-414863-A-C DOCK8 c.3612A>C p.Lys1204Asn Missense 29/48 -
9-414863-A-T DOCK8 c.3612A>T p.Lys1204Asn Missense 29/48 -
3-52550173-G-A STAB1 c.4063G>A p.Glu1355Lys Missense 38/69 -
5-150922130-T-C FAT2 c.8558A>G p.Glu2853Gly Missense 9/23 -
2-228884530-G-A SPHKAP c.1040C>T p.Ser347Phe Missense 7/11 -
22-44360335-G-A SAMM50 c.136G>A p.Val46Ile Missense 3/15 -
19-12386869-A-C ZNF44 c.32T>G p.Val11Gly Missense 2/4 -
9-121929828-C-T BRINP1 c.1820G>A p.Arg607Gln Missense 8/8 -
2-176965359-C-T HOXD12 c.684C>T p.Asn228Asn Synonymous 2/2 -
19-12386869-A-T ZNF44 c.32T>A p.Val11Glu Missense 2/4 -
7-154263965-T-G DPP6 c.591T>G p.Asp197Glu Missense 5/26 -
19-9050232-C-T MUC16 c.31399G>A p.Gly10467Arg Missense 5/84 -
3-50326292-C-T IFRD2 c.1154G>A p.Arg385His Missense 9/12 -
19-50905151-G-A POLD1 c.433G>A p.Ala145Thr Missense 4/27 -
13-32906837-A-G BRCA2 c.1222A>G p.Met408Val Missense 10/27 -
2-170030537-G-C LRP2 c.10906C>G p.Arg3636Gly Missense 56/79 -
13-41767589-G-A KBTBD7 c.805C>T p.His269Tyr Missense 1/1 -
13-32906945-A-G BRCA2 c.1330A>G p.Asn444Asp Missense 10/27 -
3-51673633-G-A RAD54L2 c.2059G>A p.Val687Ile Missense 13/23 -
17-7579548-G-C TP53 c.139C>G p.Pro47Ala Missense 4/11 -
8-145737064-C-T RECQL4 c.3502G>A - missense_variant,splice_region_variant 21/22 -
17-76118721-G-C TMC6 c.1192C>G p.Arg398Gly Missense 10/20 -
11-62288492-A-C AHNAK c.342+13983T>G - IntronicSNV - 4/5
1-183212401-C-T LAMC2 c.3448C>T p.Arg1150Cys Missense 23/23 -
17-7577061-C-CGC TP53 c.877_878insCG p.Gly293Alafs*53 Frameshift 8/11 -
12-123339487-C-T HIP1R c.754C>T p.Arg252Trp Missense 9/32 -
4-77053804-G-A NUP54 c.635C>T p.Thr212Met Missense 5/11 -
17-76471536-C-T DNAH17 c.8335G>A p.Ala2779Thr Missense 54/81 -
5-38486008-T-C LIFR c.2410A>G p.Lys804Glu Missense 17/20 -
8-145737064-C-G RECQL4 c.3502G>C - missense_variant,splice_region_variant 21/22 -
7-44610412-C-T DDX56 c.955G>A p.Val319Ile Missense 7/14 -
1-243589830-A-G SDCCAG8 c.1955A>G p.His652Arg Missense 16/18 -
12-63543693-G-T AVPR1A c.924C>A p.Phe308Leu Missense 1/2 -
1-153659131-G-A NPR1 c.1768G>A p.Val590Met Missense 11/22 -
17-37863362-CTG-TTT ERBB2 c.193_195delCTGinsTTT p.Leu65Phe Missense 2/27 -
17-37863282-G-T ERBB2 c.113G>T p.Ser38Ile Missense 2/27 -
11-55761734-T-A OR5F1 c.368A>T p.Tyr123Phe Missense 1/1 -
9-101830877-G-A COL15A1 c.3878G>A p.Gly1293Asp Missense 41/42 -
19-53268990-C-G ZNF600 c.2019G>C p.Lys673Asn Missense 3/3 -
5-150502492-A-C ANXA6 c.1219T>G p.Ser407Ala Missense 16/26 -
7-47342790-G-A TNS3 c.3215C>T p.Thr1072Met Missense 22/31 -
1-11298552-T-C MTOR c.1909A>G p.Ile637Val Missense 12/58 -
3-75787194-C-T ZNF717 c.1580G>A p.Arg527Lys Missense 5/5 -
12-11286486-G-A TAS2R30 c.358C>T p.Arg120Cys Missense 1/1 -
2-160826659-C-T PLA2R1 c.2660G>A p.Arg887His Missense 18/27 -
2-186669745-C-A FSIP2 c.15712C>A - missense_variant 17/23 -
X-107929290-C-T COL4A5 c.4228C>T p.Arg1410Cys Missense 46/51 -
12-63543693-G-A AVPR1A c.924C>T p.Phe308Phe Synonymous 1/2 -
12-11083515-C-T PRH2 c.355C>T p.Arg119Cys Missense 3/4 -
1-95448643-G-A ALG14 c.640C>T p.Arg214* Nonsense 4/4 -
7-92140266-T-C PEX1 c.1579A>G p.Thr527Ala Missense 8/24 -
13-32890661-G-A BRCA2 c.64G>A p.Ala22Thr Missense 2/27 -
17-7579911-A-C TP53 c.2T>G p.Met1Arg Missense 2/11 -
18-28612233-G-A DSC3 c.79C>T p.Arg27Cys Missense 2/16 -
1-26608849-T-C UBXN11 c.1405A>G p.Ser469Gly Missense 15/15 -
19-8203392-G-A FBN3 c.922C>T p.Leu308Phe Missense 9/64 -
19-8203392-G-C FBN3 c.922C>G p.Leu308Val Missense 9/64 -
15-51675980-A-G GLDN c.434-2A>G - IntronicSNV - 3/9
12-111317756-G-A CCDC63 c.536G>A p.Arg179Gln Missense 6/12 -
7-120979281-G-A WNT16 c.980G>A p.Arg327Gln Missense 4/4 -
1-152192121-G-A HRNR c.1984C>T p.Arg662Cys Missense 3/3 -
5-72865362-G-A UTP15 c.409G>A p.Val137Met Missense 5/13 -
22-23915583-T-C IGLL1 c.512A>G p.Asn171Ser Missense 3/3 -
6-17764793-C-T KIF13A c.4861G>A p.Glu1621Lys Missense 38/38 -
5-132097207-C-T SEPT8 c.905G>A p.Arg302His Missense 7/10 -
14-105415031-C-A AHNAK2 c.6757G>T p.Gly2253Cys Missense 7/7 -
16-27761387-G-A KIAA0556 c.3106G>A p.Asp1036Asn Missense 16/28 -
14-105415031-C-G AHNAK2 c.6757G>C p.Gly2253Arg Missense 7/7 -
19-1455153-T-C APC2 c.419T>C p.Phe140Ser Missense 5/15 -
10-3183003-G-C PITRM1 c.2650C>G p.Leu884Val Missense 24/27 -
22-36900737-C-G FOXRED2 c.604G>C p.Glu202Gln Missense 3/9 -
22-36900737-C-T FOXRED2 c.604G>A p.Glu202Lys Missense 3/9 -
1-109801345-C-T CELSR2 c.3602C>T p.Pro1201Leu Missense 2/34 -
8-37794845-C-T GOT1L1 c.469G>A p.Asp157Asn Missense 4/9 -
2-97755924-C-A FAHD2B c.384G>T p.Lys128Asn Missense 3/8 -
2-96950323-C-T SNRNP200 c.4165G>A p.Val1389Ile Missense 31/45 -
1-15655944-G-A FHAD1 c.1813G>A p.Val605Met Missense 14/31 -
7-44148557-G-A AEBP1 c.1000G>A p.Glu334Lys Missense 7/21 -
19-48953603-G-A GRWD1 c.502G>A p.Val168Met Missense 4/7 -
19-48953603-G-C GRWD1 c.502G>C p.Val168Leu Missense 4/7 -
17-37873690-G-A ERBB2 c.1855G>A p.Glu619Lys Missense 15/27 -
1-117156600-T-C IGSF3 c.619A>G p.Ser207Gly Missense 4/12 -
13-32899315-G-C BRCA2 c.419G>C p.Ser140Thr Missense 4/27 -
17-7578250-T-C TP53 c.599A>G p.Asn200Ser Missense 6/11 -
17-37873579-G-A ERBB2 c.1744G>A p.Asp582Asn Missense 15/27 -
7-151848538-G-T KMT2C c.12655C>A p.Leu4219Ile Missense 50/59 -
17-79514675-T-C FAAP100 c.1433A>G p.Gln478Arg Missense 5/9 -
17-7579472-G-A TP53 c.215C>T p.Pro72Leu Missense 4/11 -
1-20073703-C-T TMCO4 c.566G>A p.Arg189His Missense 8/16 -
4-39064647-T-A KLHL5 c.375T>A p.Ser125Arg Missense 2/12 -
19-40580431-C-A ZNF780A c.1918G>T p.Ala640Ser Missense 6/6 -
7-43908448-G-A URGCP-MRPS24 c.*137C>T - IntronicSNV 7/7 -
2-239344354-G-A ASB1 c.194G>A p.Arg65His Missense 3/5 -
4-99993787-A-T ADH5 c.1037T>A p.Val346Glu Missense 8/9 -
15-86801237-C-T AGBL1 c.806C>T p.Ser269Phe Missense 8/25 -
6-43582176-C-A POLH c.2024C>A p.Ser675Tyr Missense 11/11 -
16-71103393-G-T HYDIN c.1832C>A p.Thr611Asn Missense 14/19 -
11-800563-C-T PIDD1 c.2021G>A p.Arg674His Missense 12/16 -
1-109811522-G-A CELSR2 c.6523G>A p.Asp2175Asn Missense 19/34 -
13-39621965-G-T NHLRC3 c.946G>T p.Asp316Tyr Missense 7/7 -
6-152784621-T-C SYNE1 c.1964A>G p.Gln655Arg Missense 19/146 -
17-21319792-G-A KCNJ12 c.1138G>A p.Glu380Lys Missense 3/3 -
11-74203256-T-A LIPT2 c.620A>T p.Glu207Val Missense 2/2 -
21-43161672-C-T RIPK4 c.1681G>A p.Val561Met Missense 8/8 -
6-30997667-A-G MUC22 c.4459A>G p.Thr1487Ala Missense 3/5 -
13-32900646-CA-TG BRCA2 c.527_528delCAinsTG p.Thr176Met Missense 7/27 -
22-38119380-C-T TRIOBP c.817C>T p.Arg273Cys Missense 7/24 -
7-94989379-C-T PON3 c.971G>A p.Gly324Asp Missense 9/9 -
7-100645834-A-T MUC12 c.11990A>T p.His3997Leu Missense 2/12 -
7-100645834-A-G MUC12 c.11990A>G p.His3997Arg Missense 2/12 -
14-24587680-G-A DCAF11 c.661G>A p.Val221Ile Missense 7/15 -
12-117693813-C-T NOS1 c.2532-2254G>A - IntronicSNV - 16/28
10-126683103-C-T CTBP2 c.715G>A p.Val239Ile Missense 7/11 -
2-234115357-C-A INPP5D c.*3C>A - 3_prime_UTR_variant 28/28 -
2-234115357-C-T INPP5D c.*3C>T - 3_prime_UTR_variant 28/28 -
13-32913076-C-G BRCA2 c.4584C>G p.Ser1528Arg Missense 11/27 -
10-126691579-C-T CTBP2 c.308G>A p.Arg103Gln Missense 5/11 -
22-35802648-C-T MCM5 c.526C>T p.Arg176Cys Missense 5/17 -
12-85674211-C-G ALX1 c.172C>G p.Arg58Gly Missense 1/4 -
14-103998955-G-A TRMT61A c.368G>A p.Arg123His Missense 3/4 -
22-36681327-T-C MYH9 c.5323A>G p.Lys1775Glu Missense 38/41 -
3-137822704-C-T DZIP1L c.110G>A p.Arg37His Missense 2/16 -
9-35740902-C-T GBA2 c.946G>A p.Gly316Arg Missense 5/17 -
3-133368472-T-G TOPBP1 c.1259A>C p.His420Pro Missense 10/28 -
3-51661637-C-T RAD54L2 c.208C>T p.Arg70Trp Missense 4/23 -
15-86253813-C-T AKAP13 c.5536C>T p.Pro1846Ser Missense 19/37 -
2-182542838-G-T NEUROD1 c.750C>A p.Ser250Arg Missense 2/2 -
3-105378061-G-C CBLB c.2702C>G p.Ala901Gly Missense 19/19 -
20-43836956-A-G SEMG1 c.1018A>G p.Ser340Gly Missense 2/3 -
7-8196585-G-A ICA1 c.804+161C>T - IntronicSNV - 8/13
14-105411680-C-G AHNAK2 c.10108G>C p.Gly3370Arg Missense 7/7 -
13-32910701-G-A BRCA2 c.2209G>A p.Ala737Thr Missense 11/27 -
2-30987041-G-A CAPN13 c.656C>T p.Ala219Val Missense 6/23 -
2-172935641-T-C METAP1D c.547T>C p.Tyr183His Missense 6/10 -
11-76888673-C-T MYO7A c.2266C>T p.Arg756Trp Missense 19/49 -
13-32910417-TC-T BRCA2 c.1925delC p.Ser642Leufs*2 Frameshift 11/27 -
6-74481186-C-T CD109 c.1709C>T p.Pro570Leu Missense 15/33 -
17-72943253-G-A OTOP3 c.1303G>A p.Val435Met Missense 6/7 -
17-37868666-T-A ERBB2 c.1113T>A p.Phe371Leu Missense 9/27 -
16-20439162-G-A ACSM5 c.974G>A p.Arg325Gln Missense 7/14 -
X-140993674-G-T MAGEC1 c.484G>T p.Val162Phe Missense 4/4 -
4-187088399-G-T FAM149A c.1358G>T p.Gly453Val Missense 13/14 -
17-37856541-C-T ERBB2 c.50C>T p.Pro17Leu Missense 1/27 -
9-124072992-G-A GSN c.535G>A p.Val179Met Missense 4/17 -
19-549018-G-A GZMM c.445G>A p.Gly149Ser Missense 4/5 -
4-90872862-C-G MMRN1 c.3225C>G p.Asn1075Lys Missense 7/8 -
1-45480232-T-A UROD c.758T>A p.Leu253Gln Missense 7/10 -
X-140993674-G-C MAGEC1 c.484G>C p.Val162Leu Missense 4/4 -
2-242078172-A-G PASK c.638T>C p.Val213Ala Missense 5/18 -
3-188327604-C-G LPP c.1085C>G p.Ala362Gly Missense 6/11 -
17-7577146-TAG-TTT TP53 c.790_792delCTAinsTTT p.Leu264Phe Missense 8/11 -
19-47879329-A-G DHX34 c.2456A>G p.Asn819Ser Missense 11/17 -
11-118133248-T-G MPZL2 c.341A>C p.Gln114Pro Missense 3/6 -
1-156926306-C-T ARHGEF11 c.1577G>A p.Arg526His Missense 19/41 -
12-11286486-G-T TAS2R30 c.358C>A p.Arg120Ser Missense 1/1 -
11-2192950-C-T TH c.67G>A p.Ala23Thr Missense 1/13 -
16-3023158-G-A PKMYT1 c.1369C>T p.Arg457Trp Missense 8/9 -
15-86801237-C-G AGBL1 c.806C>G p.Ser269Cys Missense 8/25 -
7-121758435-T-C AASS c.613A>G p.Ile205Val Missense 6/24 -
13-32890607-G-C BRCA2 c.10G>C p.Gly4Arg Missense 2/27 -
13-32890607-G-A BRCA2 c.10G>A p.Gly4Arg Missense 2/27 -
18-44113283-G-A LOXHD1 c.4217C>T p.Ala1406Val Missense 28/40 -
17-74898683-C-G MGAT5B c.376C>G p.Gln126Glu Missense 4/17 -
1-15642964-G-C FHAD1 c.1260+1G>C - IntronicSNV - 9/30
1-15642964-G-A FHAD1 c.1260+1G>A - IntronicSNV - 9/30
13-32903582-AGA-TGT BRCA2 c.634_636delAGAinsTGT p.Arg212Cys Missense 8/27 -
3-49365221-G-C USP4 c.258C>G p.His86Gln Missense 3/21 -
10-72468469-G-A ADAMTS14 c.805G>A p.Asp269Asn Missense 4/22 -
1-26142081-G-A SELENON c.1645G>A p.Val549Met Missense 13/13 -
13-32911391-CTA-TTT BRCA2 c.2899_2901delCTAinsTTT p.Leu967Phe Missense 11/27 -
11-17470143-A-G ABCC8 c.1252T>C p.Cys418Arg Missense 8/39 -
3-50327010-T-C IFRD2 c.839A>G p.Tyr280Cys Missense 7/12 -
20-33588193-G-C MYH7B c.5005G>C p.Gly1669Arg Missense 39/45 -
20-33588193-G-A MYH7B c.5005G>A p.Gly1669Ser Missense 39/45 -
11-94322358-G-A PIWIL4 c.986G>A p.Arg329Gln Missense 8/20 -
X-17750294-T-A NHS c.4603T>A p.Ser1535Thr Missense 8/8 -
7-121758435-T-A AASS c.613A>T p.Ile205Leu Missense 6/24 -
17-37863291-C-T ERBB2 c.122C>T p.Thr41Ile Missense 2/27 -
2-207557965-G-T DYTN c.914C>A p.Ala305Glu Missense 9/12 -
2-207557965-G-A DYTN c.914C>T p.Ala305Val Missense 9/12 -
9-418173-A-G DOCK8 c.3806A>G p.Asn1269Ser Missense 30/48 -
12-77191233-A-G ZDHHC17 c.113A>G p.His38Arg Missense 2/17 -
3-121448088-G-T GOLGB1 c.349C>A p.Gln117Lys Missense 4/22 -
17-61769706-G-A MAP3K3 c.1579G>A p.Val527Ile Missense 15/16 -
11-116631542-G-C BUD13 c.1163C>G p.Ser388Cys Missense 5/10 -
3-185209413-C-T TMEM41A c.707G>A p.Gly236Glu Missense 5/5 -
3-185209413-C-A TMEM41A c.707G>T p.Gly236Val Missense 5/5 -
3-112648099-T-A CD200R1 c.458A>T p.Tyr153Phe Missense 4/8 -
16-23695377-A-C PLK1 c.1003A>C p.Ser335Arg Missense 5/10 -
11-66392434-T-G RBM14-RBM4 c.337+7906T>G - IntronicSNV - 1/2
14-38064109-C-G FOXA1 c.69G>C p.Gln23His Missense 1/2 -
1-22846721-G-A ZBTB40 c.3001G>A p.Val1001Ile Missense 14/18 -
14-38064109-C-T FOXA1 c.69G>A p.Gln23Gln Synonymous 1/2 -
19-52091068-G-A ZNF175 c.1484G>A p.Arg495Gln Missense 5/5 -
4-72363294-A-C SLC4A4 c.1919A>C p.Asn640Thr Missense 13/23 -
2-187702100-G-T ZSWIM2 c.676C>A p.Leu226Met Missense 5/9 -
2-179528377-T-A TTN c.31484-595A>T - IntronicSNV - 152/311
6-148865088-C-T SASH1 c.2482C>T p.Pro828Ser Missense 18/20 -
13-32893276-TC-GG BRCA2 c.130_131delTCinsGG p.Ser44Gly Missense 3/27 -
8-37689051-C-T ADGRA2 c.1043C>T p.Thr348Ile Missense 8/19 -
17-7578181-G-A TP53 c.668C>T p.Pro223Leu Missense 6/11 -
2-168110876-C-T XIRP2 c.*240C>T - IntronicSNV 11/11 -
13-32914305-G-T BRCA2 c.5813G>T p.Gly1938Val Missense 11/27 -
1-152281724-G-C FLG c.5638C>G p.His1880Asp Missense 3/3 -
12-80735883-G-T OTOGL c.5179G>T p.Asp1727Tyr Missense 43/58 -
9-125281999-C-T OR1J4 c.580C>T p.Leu194Phe Missense 1/1 -
16-20429546-C-G ACSM5 c.370C>G p.Arg124Gly Missense 3/14 -
19-9578370-C-T ZNF560 c.1253G>A p.Gly418Asp Missense 10/10 -
21-43524191-G-A UMODL1 c.1513G>A p.Val505Met Missense 9/23 -
21-43524191-G-C UMODL1 c.1513G>C p.Val505Leu Missense 9/23 -
17-74868836-A-G MGAT5B c.69-97A>G - IntronicSNV - 1/16
10-103827050-C-T HPS6 c.1819C>T p.Arg607* Nonsense 1/1 -
7-47342713-G-C TNS3 c.3292C>G p.Leu1098Val Missense 22/31 -
17-39135066-C-A KRT40 c.1186G>T p.Glu396* Nonsense 8/9 -
17-7579910-C-T TP53 c.3G>A p.Met1Ile Missense 2/11 -
16-70296256-C-A AARS c.1664G>T p.Ser555Ile Missense 12/21 -
11-18387397-G-A GTF2H1 c.1628G>A p.Arg543His Missense 15/15 -
11-64108754-A-C CCDC88B c.401A>C p.Glu134Ala Missense 5/27 -
13-32906539-T-G BRCA2 c.924T>G p.Phe308Leu Missense 10/27 -
13-32906539-T-A BRCA2 c.924T>A p.Phe308Leu Missense 10/27 -
17-7579908-T-C TP53 c.5A>G p.Glu2Gly Missense 2/11 -
5-112228668-C-T REEP5 c.352-5788G>A - IntronicSNV - 3/4
6-149997810-C-T LATS1 c.2657G>A p.Arg886Gln Missense 6/8 -
19-58005262-G-A ZNF419 c.1337G>A p.Arg446Gln Missense 5/5 -
8-37796297-G-C GOT1L1 c.218C>G p.Thr73Ser Missense 2/9 -
17-37676297-G-A CDK12 c.3052G>A p.Asp1018Asn Missense 11/14 -
21-43524191-G-T UMODL1 c.1513G>T p.Val505Leu Missense 9/23 -
7-48352767-T-C ABCA13 c.9620T>C p.Leu3207Pro Missense 25/62 -
11-65631998-C-T MUS81 c.1090C>T p.Arg364Trp Missense 11/16 -
10-103827050-C-A HPS6 c.1819C>A p.Arg607Arg Synonymous 1/1 -
17-39135066-C-T KRT40 c.1186G>A p.Glu396Lys Missense 8/9 -
3-75787546-G-C ZNF717 c.1228C>G p.Leu410Val Missense 5/5 -
5-89918423-A-G ADGRV1 c.463A>G p.Ile155Val Missense 5/90 -
X-75649236-A-T MAGEE1 c.913A>T p.Ser305Cys Missense 1/1 -
2-130878058-C-G POTEF c.31G>C p.Ala11Pro Missense 3/17 -
19-9020771-G-A MUC16 c.37331C>T p.Ser12444Phe Missense 20/84 -
10-3181157-G-C PITRM1 c.2859C>G p.Ile953Met Missense 25/27 -
1-26608849-T-A UBXN11 c.1405A>T p.Ser469Cys Missense 15/15 -
5-118850709-G-T HSD17B4 c.1471G>T p.Ala491Ser Missense 17/24 -
1-152281724-G-T FLG c.5638C>A p.His1880Asn Missense 3/3 -
19-17062930-G-T CPAMD8 c.2498C>A p.Ser833Tyr Missense 20/42 -
20-40743945-A-G PTPRT c.2993T>C p.Val998Ala Missense 22/31 -
2-109421358-A-T CCDC138 c.749A>T p.Glu250Val Missense 7/15 -
1-197073196-G-A ASPM c.5185C>T p.Arg1729Trp Missense 18/28 -
11-118918750-C-A HYOU1 c.2419G>T p.Gly807Trp Missense 21/26 -
1-169701771-C-A SELE c.406G>T p.Ala136Ser Missense 3/14 -
13-32906995-T-G BRCA2 c.1380T>G p.Asn460Lys Missense 10/27 -
1-208061255-T-C CD34 c.*194A>G - 3-UTRSNV 8/8 -
7-123119922-G-A IQUB c.1337C>T p.Ala446Val Missense 8/13 -
2-215657112-C-T BARD1 c.273G>A p.Trp91* Nonsense 3/11 -
7-117232223-C-A CFTR c.2002C>A p.Arg668Ser Missense 14/27 -
17-56679798-A-G TEX14 c.1508T>C p.Leu503Pro Missense 12/33 -
17-45214592-T-G CDC27 c.1857A>C p.Leu619Phe Missense 14/19 -
10-95093661-G-C MYOF c.4573C>G p.Arg1525Gly Missense 42/54 -
19-8206844-A-G FBN3 c.719T>C p.Ile240Thr Missense 7/64 -
8-17611381-C-G MTUS1 c.1936G>C p.Glu646Gln Missense 2/15 -
11-55563609-A-C OR5D14 c.578A>C p.Asp193Ala Missense 1/1 -
6-32084337-T-G ATF6B c.1793A>C p.His598Pro Missense 17/18 -
6-32084337-T-A ATF6B c.1793A>T p.His598Leu Missense 17/18 -
14-68250147-C-T ZFYVE26 c.3722G>A p.Arg1241Gln Missense 21/42 -
11-55563609-A-G OR5D14 c.578A>G p.Asp193Gly Missense 1/1 -
17-18152710-C-T FLII c.1789G>A p.Asp597Asn Missense 15/30 -
3-39142562-G-T GORASP1 c.380C>A p.Ala127Asp Missense 4/9 -
17-18152710-C-G FLII c.1789G>C p.Asp597His Missense 15/30 -
2-136107663-T-C ZRANB3 c.482A>G p.Tyr161Cys Missense 5/21 -
13-32907140-A-T BRCA2 c.1525A>T p.Arg509* Nonsense 10/27 -
1-24192103-C-G FUCA1 c.402G>C p.Leu134Phe Missense 2/8 -
9-78790143-G-A PCSK5 c.1900+98G>A - IntronicSNV - 14/36
1-14107658-A-T PRDM2 c.3368A>T p.Asp1123Val Missense 8/10 -
1-45798269-T-C MUTYH c.658A>G p.Ile220Val Missense 8/16 -
2-242066103-G-A PASK c.2227C>T p.Leu743Phe Missense 10/18 -
7-128441249-G-A CCDC136 c.356G>A p.Arg119His Missense 4/18 -
3-69987012-C-A MITF c.394C>A p.Gln132Lys Missense 3/10 -
19-11332560-G-T DOCK6 c.3517C>A p.Arg1173Arg Synonymous 28/48 -
11-418414-G-C ANO9 c.2306C>G p.Pro769Arg Missense 23/23 -
11-418414-G-A ANO9 c.2306C>T p.Pro769Leu Missense 23/23 -
4-1980565-C-T NSD2 c.4027C>T p.Pro1343Ser Missense 24/24 -
17-5389469-T-G DERL2 c.13A>C p.Ser5Arg Missense 1/7 -
10-126686605-C-A CTBP2 c.493G>T p.Val165Leu Missense 6/11 -
5-145551522-T-C LARS c.245A>G p.Lys82Arg Missense 4/32 -
19-549171-C-T GZMM c.598C>T p.Gln200* Nonsense 4/5 -
17-7578550-GA-CT TP53 c.379_380delTCinsCT p.Ser127Leu Missense 5/11 -
11-64037602-G-C BAD c.*79C>G - 3-UTRSNV 4/4 -
11-64037602-G-A BAD c.*79C>T - 3-UTRSNV 4/4 -
19-2408436-G-A TMPRSS9 c.823G>A p.Val275Met Missense 7/17 -
19-40928814-C-T SERTAD1 c.640G>A p.Glu214Lys Missense 2/2 -
17-36091625-G-A HNF1B c.1006C>T p.His336Tyr Missense 4/9 -
17-36091625-G-C HNF1B c.1006C>G p.His336Asp Missense 4/9 -
9-80943928-A-C PSAT1 c.901A>C p.Asn301His Missense 8/8 -
19-39996089-A-G DLL3 c.1091A>G p.Asn364Ser Missense 6/8 -
5-70900270-T-A MCCC2 c.599T>A p.Ile200Asn Missense 6/17 -
22-45132831-G-A PRR5 c.844G>A p.Glu282Lys Missense 9/9 -
10-27687437-C-A PTCHD3 c.2090G>T p.Trp697Leu Missense 4/4 -
10-126686605-C-T CTBP2 c.493G>A p.Val165Met Missense 6/11 -
12-52842643-C-T KRT6B c.1186G>A p.Asp396Asn Missense 6/9 -
2-120020831-C-T STEAP3 c.1384C>T p.Arg462Trp Missense 6/6 -
3-15259048-A-G CAPN7 c.328A>G p.Ile110Val Missense 3/21 -
2-74643215-C-T C2orf81 c.181G>A p.Asp61Asn Missense 2/4 -
7-121682694-T-C PTPRZ1 c.5834T>C p.Val1945Ala Missense 22/30 -
7-105660850-A-G CDHR3 c.1685A>G p.Glu562Gly Missense 13/19 -
2-179452501-T-C TTN c.55831A>G p.Ser18611Gly Missense 255/312 -
17-48559521-G-A RSAD1 c.544G>A p.Ala182Thr Missense 4/9 -
14-45605405-G-A FANCM c.171G>A p.Leu57Leu Synonymous 1/23 -
14-45605405-G-C FANCM c.171G>C p.Leu57Phe Missense 1/23 -
1-201356205-C-T LAD1 c.284G>A p.Arg95Gln Missense 3/10 -
14-64687258-A-T SYNE2 c.19964A>T p.Gln6655Leu Missense 111/116 -
19-2799757-C-T THOP1 c.557C>T p.Thr186Met Missense 5/13 -
2-203991333-T-G NBEAL1 c.2952T>G p.Ile984Met Missense 21/55 -
13-103701690-G-T SLC10A2 c.868C>A p.Pro290Thr Missense 5/6 -
3-133368472-T-C TOPBP1 c.1259A>G p.His420Arg Missense 10/28 -
13-32906966-TAG-T BRCA2 c.1351_1352delAG p.Ser451Profs*10 Frameshift 10/27 -
17-56694937-T-A TEX14 c.598A>T p.Ile200Phe Missense 6/33 -
19-2424194-C-T TMPRSS9 c.2554C>T p.Arg852Cys Missense 14/17 -
15-90984854-T-G IQGAP1 c.766T>G p.Ser256Ala Missense 8/38 -
7-100176362-C-T LRCH4 c.646G>A p.Val216Ile Missense 5/18 -
1-17668888-A-G PADI4 c.926A>G p.Tyr309Cys Missense 8/16 -
17-7579556-A-G TP53 c.131T>C p.Met44Thr Missense 4/11 -
17-7637938-A-G DNAH2 c.890A>G p.Lys297Arg Missense 7/86 -
5-79024949-G-C CMYA5 c.361G>C p.Val121Leu Missense 2/13 -
10-32103189-C-T ARHGAP12 c.1817G>A p.Arg606His Missense 13/19 -
19-49691898-G-A TRPM4 c.1744G>A p.Gly582Ser Missense 13/25 -
17-10404653-C-G MYH1 c.3512G>C p.Arg1171Pro Missense 27/40 -
X-49021639-C-T MAGIX c.619C>T p.Arg207Trp Missense 5/6 -
3-98001858-A-G OR5H2 c.127A>G p.Thr43Ala Missense 1/1 -
17-37879573-C-A ERBB2 c.1948C>A p.Pro650Thr Missense 17/27 -
16-89865598-G-A FANCA c.869C>T p.Ser290Phe Missense 10/43 -
16-89865598-G-C FANCA c.869C>G p.Ser290Cys Missense 10/43 -
16-89865598-G-T FANCA c.869C>A p.Ser290Tyr Missense 10/43 -
5-50125738-A-G PARP8 c.2176A>G p.Met726Val Missense 22/26 -
17-37864713-C-G ERBB2 c.365C>G p.Pro122Arg Missense 3/27 -
9-130116658-C-T GARNL3 c.1728C>T p.Asp576Asp Synonymous 19/28 -
9-130116658-C-G GARNL3 c.1728C>G p.Asp576Glu Missense 19/28 -
3-39142562-G-A GORASP1 c.380C>T p.Ala127Val Missense 4/9 -
3-39142562-G-C GORASP1 c.380C>G p.Ala127Gly Missense 4/9 -
11-802020-C-T PIDD1 c.1247G>A p.Arg416Gln Missense 7/16 -
1-208072436-G-C CD34 c.398C>G p.Thr133Ser Missense 3/8 -
1-208072436-G-A CD34 c.398C>T p.Thr133Ile Missense 3/8 -
1-208072436-G-T CD34 c.398C>A p.Thr133Asn Missense 3/8 -
3-53769508-G-A CACNA1D c.2789G>A p.Arg930His Missense 21/49 -
6-32008500-G-A CYP21A2 c.1174G>A p.Ala392Thr Missense 9/10 -
6-32008500-G-C CYP21A2 c.1174G>C p.Ala392Pro Missense 9/10 -
19-9076006-A-G MUC16 c.11440T>C p.Ser3814Pro Missense 3/84 -
12-2797746-G-A CACNA1C c.5918G>A p.Arg1973Gln Missense 46/47 -
2-202957848-T-C KIAA2012 c.625T>C p.Tyr209His Missense 4/24 -
13-32911202-G-C BRCA2 c.2710G>C p.Gly904Arg Missense 11/27 -
4-108969836-C-T LEF1 c.*78G>A - 3_prime_UTR_variant 11/11 -
3-137822704-C-A DZIP1L c.110G>T p.Arg37Leu Missense 2/16 -
1-152190873-G-T HRNR c.3232C>A p.Gln1078Lys Missense 3/3 -
17-45214600-A-G CDC27 c.1849T>C p.Phe617Leu Missense 14/19 -
2-190606152-A-C ANKAR c.3785A>C p.Tyr1262Ser Missense 20/23 -
2-190606152-A-G ANKAR c.3785A>G p.Tyr1262Cys Missense 20/23 -
14-66975271-C-G GPHN c.26C>G p.Thr9Ser Missense 1/23 -
14-64408645-A-G SYNE2 c.280A>G p.Ile94Val Missense 5/116 -
16-2983209-G-A FLYWCH1 c.872G>A p.Arg291Gln Missense 5/10 -
16-2983209-G-C FLYWCH1 c.872G>C p.Arg291Pro Missense 5/10 -
2-198948717-A-G PLCL1 c.476A>G p.Asp159Gly Missense 2/6 -
X-19433335-G-A MAP3K15 c.1480C>T p.Arg494Cys Missense 10/29 -
X-19433335-G-T MAP3K15 c.1480C>A p.Arg494Ser Missense 10/29 -
16-89254538-G-A CDH15 c.823G>A p.Gly275Arg Missense 7/14 -
17-37868649-G-C ERBB2 c.1096G>C p.Gly366Arg Missense 9/27 -
17-71196139-C-G COG1 c.1049C>G p.Thr350Arg Missense 5/14 -
17-10404653-C-T MYH1 c.3512G>A p.Arg1171Gln Missense 27/40 -
17-71196139-C-T COG1 c.1049C>T p.Thr350Met Missense 5/14 -
6-161022107-C-A LPA c.2969G>T p.Arg990Leu Missense 19/39 -
X-1557993-G-C ASMTL c.270C>G p.Ile90Met Missense 3/13 -
17-10401968-G-A MYH1 c.4156C>T p.Arg1386Cys Missense 30/40 -
4-187078745-A-G FAM149A c.601A>G p.Lys201Glu Missense 8/14 -
17-76554204-C-G DNAH17 c.2164G>C p.Gly722Arg Missense 14/81 -
19-11106914-A-G SMARCA4 c.1619A>G p.Lys540Arg Missense 10/35 -
11-55761605-A-G OR5F1 c.497T>C p.Leu166Ser Missense 1/1 -
17-77705076-C-T ENPP7 c.175C>T p.Arg59* Nonsense 1/6 -
17-76554204-C-T DNAH17 c.2164G>A p.Gly722Ser Missense 14/81 -
5-159686752-C-A CCNJL c.451G>T p.Val151Phe Missense 5/7 -
X-50438789-C-T SHROOM4 c.266G>A p.Arg89Lys Missense 2/9 -
19-55263830-A-T KIR2DL3 c.885A>T p.Glu295Asp Missense 8/8 -
16-1306923-C-T TPSD1 c.380C>T p.Ala127Val Missense 3/5 -
21-43557725-G-A UMODL1 c.3952G>A p.Glu1318Lys Missense 22/23 -
3-127327309-G-A MCM2 c.1186G>A p.Ala396Thr Missense 7/16 -
1-223178133-C-T DISP1 c.3394C>T p.Arg1132Trp Missense 10/10 -
1-223178133-C-A DISP1 c.3394C>A p.Arg1132Arg Synonymous 10/10 -
15-65703439-C-A IGDCC4 c.340G>T p.Val114Phe Missense 2/20 -
2-105859066-C-T GPR45 c.751C>T p.Arg251Trp Missense 1/1 -
2-105859066-C-G GPR45 c.751C>G p.Arg251Gly Missense 1/1 -
8-124089460-C-G TBC1D31 c.187C>G p.Gln63Glu Missense 2/22 -
10-91177152-C-G IFIT5 c.196C>G p.Gln66Glu Missense 2/2 -
4-126238305-C-A FAT4 c.739C>A p.Pro247Thr Missense 1/17 -
4-126238305-C-T FAT4 c.739C>T p.Pro247Ser Missense 1/17 -
1-233136167-C-T PCNX2 c.5212G>A p.Ala1738Thr Missense 30/34 -
13-32907114-GT-AG BRCA2 c.1499_1500delGTinsAG p.Gly500Glu Missense 10/27 -
13-32893406-CT-TG BRCA2 c.260_261delCTinsTG p.Thr87Met Missense 3/27 -
19-8320554-C-T CERS4 c.355C>T p.Arg119Trp Missense 5/12 -
4-1746456-C-A TACC3 c.2348C>A p.Ala783Asp Missense 15/16 -
7-151078993-C-T WDR86 c.937G>A p.Gly313Ser Missense 5/6 -
19-49685865-G-A TRPM4 c.1294G>A p.Ala432Thr Missense 11/25 -
19-49685865-G-T TRPM4 c.1294G>T p.Ala432Ser Missense 11/25 -
20-43653713-C-T STK4 c.1247C>T p.Pro416Leu Missense 10/11 -
9-140637904-A-G EHMT1 c.905A>G p.Lys302Arg Missense 5/27 -
20-46264116-G-T NCOA3 c.1163G>T p.Arg388Ile Missense 11/23 -
14-24587680-G-C DCAF11 c.661G>C p.Val221Leu Missense 7/15 -
2-85571211-G-A RETSAT c.1444C>T p.Arg482Trp Missense 9/11 -
11-432044-G-A ANO9 c.361C>T p.Arg121* Nonsense 5/23 -
1-11733363-C-A FBXO6 c.539C>A p.Thr180Asn Missense 5/6 -
19-40895808-A-G HIPK4 c.2T>C p.Met1Thr Missense 1/4 -
2-85571211-G-T RETSAT c.1444C>A p.Arg482Arg Synonymous 9/11 -
20-44048782-C-T PIGT c.688C>T p.Arg230Cys Missense 6/12 -
7-117232223-C-T CFTR c.2002C>T p.Arg668Cys Missense 14/27 -
11-105880425-T-A MSANTD4 c.875A>T p.Asp292Val Missense 3/3 -
7-103767338-G-A ORC5 c.1265C>T p.Thr422Met Missense 14/14 -
7-48278988-C-T ABCA13 c.1048C>T p.Arg350* Nonsense 9/62 -
5-11732304-C-T CTNND2 c.118G>A p.Gly40Arg Missense 2/22 -
10-52595978-A-G A1CF c.460T>C p.Ser154Pro Missense 6/13 -
6-46659721-G-T TDRD6 c.3856G>T p.Asp1286Tyr Missense 1/4 -
7-100683213-C-T MUC17 c.8516C>T p.Thr2839Ile Missense 3/13 -
2-162851539-C-T DPP4 c.2131G>A p.Val711Ile Missense 25/26 -
19-49898459-A-G CCDC155 c.245A>G p.Asp82Gly Missense 4/20 -
9-131397116-C-T WDR34 c.1066G>A p.Gly356Ser Missense 7/9 -
7-149422444-G-A KRBA1 c.1165G>A p.Ala389Thr Missense 10/18 -
17-37868193-C-G ERBB2 c.914C>G p.Ser305Cys Missense 8/27 -
7-100647976-C-G MUC12 c.14132C>G p.Ser4711Cys Missense 2/12 -
18-74091461-T-C ZNF516 c.2609A>G p.His870Arg Missense 4/8 -
6-31727989-A-G MSH5 c.1808A>G p.Lys603Arg Missense 19/25 -
21-43543057-C-T UMODL1 c.2944C>T p.Arg982Trp Missense 17/23 -
1-152329370-A-G FLG2 c.892T>C p.Cys298Arg Missense 3/3 -
21-43543057-C-A UMODL1 c.2944C>A p.Arg982Arg Synonymous 17/23 -
20-60892518-C-T LAMA5 c.7394G>A p.Arg2465Gln Missense 55/80 -
3-15478047-G-A EAF1 c.725G>A p.Arg242Gln Missense 5/6 -
17-79514982-G-C FAAP100 c.1404-278C>G - IntronicSNV - 4/8
3-13916570-C-T WNT7A c.172G>A p.Ala58Thr Missense 2/4 -
1-20669689-G-A VWA5B1 c.2429G>A p.Gly810Asp Missense 16/22 -
22-42910722-G-T RRP7A c.524C>A p.Thr175Lys Missense 5/7 -
2-116066887-G-C DPP10 c.133G>C p.Val45Leu Missense 2/26 -
X-129147028-G-A BCORL1 c.280G>A p.Asp94Asn Missense 3/12 -
17-10401968-G-C MYH1 c.4156C>G p.Arg1386Gly Missense 30/40 -
19-49339623-C-T HSD17B14 c.46G>A p.Gly16Arg Missense 1/9 -
19-4525845-C-G PLIN5 c.521-1G>C - IntronicSNV - 5/7
3-108189571-C-T MYH15 c.1417G>A p.Asp473Asn Missense 14/42 -
6-109274354-C-T ARMC2 c.1715C>T p.Thr572Met Missense 13/18 -
3-185214748-G-T TMEM41A c.141C>A p.Asp47Glu Missense 2/5 -
9-117103859-C-T AKNA c.4021G>A p.Ala1341Thr Missense 21/22 -
6-20490428-G-T E2F3 c.772G>T p.Asp258Tyr Missense 7/7 -
8-17823611-G-A PCM1 c.2959G>A p.Val987Met Missense 19/39 -
13-32907326-TT-T BRCA2 c.1711delT p.Ser571Leufs*2 Frameshift 10/27 -
7-151945051-A-G KMT2C c.2468T>C p.Ile823Thr Missense 14/59 -
X-132351308-G-A TFDP3 c.980C>T p.Pro327Leu Missense 1/1 -
7-151945051-A-T KMT2C c.2468T>A p.Ile823Asn Missense 14/59 -
16-2980747-C-G FLYWCH1 c.659C>G p.Pro220Arg Missense 4/10 -
11-47303165-A-G MADD c.1330A>G p.Asn444Asp Missense 8/33 -
12-11285924-C-G TAS2R30 c.920G>C p.Arg307Pro Missense 1/1 -
2-43010497-C-G HAAO c.307G>C p.Val103Leu Missense 4/10 -
X-140993320-A-G MAGEC1 c.130A>G p.Ser44Gly Missense 4/4 -
2-27353418-G-A ABHD1 c.1024G>A p.Ala342Thr Missense 9/9 -
X-47041224-C-T RBM10 c.1652C>T p.Pro551Leu Missense 15/24 -
12-18891703-C-A CAPZA3 c.501C>A p.Asn167Lys Missense 1/1 -
11-7663588-G-A PPFIBP2 c.1577G>A p.Arg526Gln Missense 17/24 -
20-30729619-G-C TM9SF4 c.449G>C p.Arg150Pro Missense 5/18 -
17-7576876-C-T TP53 c.970G>A p.Asp324Asn Missense 9/11 -
X-153693126-C-T PLXNA3 c.1958C>T p.Pro653Leu Missense 10/33 -
12-117724018-T-G NOS1 c.1181A>C p.Asp394Ala Missense 6/29 -
17-7578228-A-T TP53 c.621T>A p.Asp207Glu Missense 6/11 -
17-7578228-A-C TP53 c.621T>G p.Asp207Glu Missense 6/11 -
11-47663986-C-T MTCH2 c.32G>A p.Gly11Asp Missense 1/13 -
17-7577121-G-A TP53 c.817C>T p.Arg273Cys Missense 8/11 -
13-32913666-C-G BRCA2 c.5174C>G p.Ala1725Gly Missense 11/27 -
12-111291255-C-G CCDC63 c.56C>G p.Ser19Trp Missense 3/12 -
2-240913012-G-C NDUFA10 c.1000-12409C>G - IntronicSNV - 9/9
13-32911284-GA-AC BRCA2 c.2792_2793delGAinsAC p.Gly931Asp Missense 11/27 -
19-42931022-C-T LIPE c.280G>A p.Ala94Thr Missense 1/10 -
X-1557993-G-A ASMTL c.270C>T p.Ile90Ile Synonymous 3/13 -
1-36225997-G-A CLSPN c.1525C>T p.Arg509Trp Missense 8/25 -
12-111291255-C-A CCDC63 c.56C>A p.Ser19* Nonsense 3/12 -
1-36225997-G-T CLSPN c.1525C>A p.Arg509Arg Synonymous 8/25 -
1-197111665-G-T ASPM c.1717C>A p.Arg573Arg Synonymous 3/28 -
5-170338070-T-C RANBP17 c.692T>C p.Ile231Thr Missense 7/28 -
1-197111665-G-A ASPM c.1717C>T p.Arg573Trp Missense 3/28 -
1-242042364-A-C EXO1 c.1828A>C p.Ser610Arg Missense 11/14 -
2-186653566-A-T FSIP2 c.1703A>T - missense_variant 16/23 -
2-186653566-A-G FSIP2 c.1703A>G - missense_variant 16/23 -
12-57858576-C-A GLI1 c.314C>A p.Ser105Tyr Missense 4/12 -
4-170189999-C-G SH3RF1 c.365G>C p.Arg122Pro Missense 2/12 -
2-179441295-T-C TTN c.61972A>G p.Ser20658Gly Missense 274/312 -
4-170189999-C-T SH3RF1 c.365G>A p.Arg122Gln Missense 2/12 -
17-37868631-A-T ERBB2 c.1078A>T p.Asn360Tyr Missense 9/27 -
4-1980565-C-A NSD2 c.4027C>A p.Pro1343Thr Missense 24/24 -
19-50393043-C-T IL4I1 c.1654G>A p.Val552Met Missense 10/10 -
1-167384979-T-C POU2F1 c.2233T>C p.Ser745Pro Missense 16/16 -
19-49967718-A-T ALDH16A1 c.1376A>T p.Asp459Val Missense 11/17 -
9-131267089-C-A GLE1 c.5C>A p.Pro2Gln Missense 1/16 -
17-10401968-G-T MYH1 c.4156C>A p.Arg1386Ser Missense 30/40 -
9-131267089-C-G GLE1 c.5C>G p.Pro2Arg Missense 1/16 -
9-124081138-G-A GSN c.1324G>A p.Asp442Asn Missense 9/17 -
15-42145593-C-T SPTBN5 c.10033G>A p.Asp3345Asn Missense 59/68 -
1-156933011-G-A ARHGEF11 c.1124C>T p.Ala375Val Missense 13/41 -
1-65851423-G-C DNAJC6 c.829G>C p.Ala277Pro Missense 7/19 -
1-65851423-G-A DNAJC6 c.829G>A p.Ala277Thr Missense 7/19 -
22-39715102-T-G RPL3 c.3+498A>C - IntronicSNV - 1/9
19-12429782-G-A ZNF563 c.1057C>T p.Arg353* Nonsense 4/4 -
22-39715102-T-C RPL3 c.3+498A>G - IntronicSNV - 1/9
22-39715102-T-A RPL3 c.3+498A>T - IntronicSNV - 1/9
20-60901932-C-T LAMA5 c.5203G>A p.Val1735Met Missense 39/80 -
10-101557063-G-A ABCC2 c.842G>A p.Ser281Asn Missense 7/32 -
1-1277534-G-A DVL1 c.365C>T p.Pro122Leu Missense 4/15 -
1-1277534-G-C DVL1 c.365C>G p.Pro122Arg Missense 4/15 -
10-3183003-G-A PITRM1 c.2650C>T p.Leu884Phe Missense 24/27 -
14-105353811-C-T CEP170B c.3235C>T p.Arg1079Cys Missense 12/19 -
10-101610499-A-G ABCC2 c.4454A>G p.His1485Arg Missense 31/32 -
17-7579324-AG-AA TP53 c.362_363delCTinsAA p.Ser121* Nonsense 4/11 -
20-10622214-C-A JAG1 c.2810G>T p.Arg937Leu Missense 23/26 -
7-103205779-G-A RELN c.5156C>T p.Ser1719Leu Missense 34/65 -
20-10622214-C-T JAG1 c.2810G>A p.Arg937Gln Missense 23/26 -
7-2297115-T-C SNX8 c.1019A>G p.His340Arg Missense 9/11 -
11-14913631-G-C CYP2R1 c.121C>G p.Pro41Ala Missense 1/5 -
11-14913631-G-T CYP2R1 c.121C>A p.Pro41Thr Missense 1/5 -
17-7574019-C-G TP53 c.1008G>C p.Glu336Asp Missense 10/11 -
17-7574019-C-A TP53 c.1008G>T p.Glu336Asp Missense 10/11 -
11-14913631-G-A CYP2R1 c.121C>T p.Pro41Ser Missense 1/5 -
2-125504881-T-C CNTNAP5 c.2150T>C p.Val717Ala Missense 14/24 -
22-23915761-C-A IGLL1 c.334G>T p.Ala112Ser Missense 3/3 -
20-57768809-C-T ZNF831 c.2735C>T p.Ala912Val Missense 1/5 -
11-47359334-C-G MYBPC3 c.2320G>C p.Ala774Pro Missense 24/35 -
11-108032676-G-A NPAT c.3137C>T p.Pro1046Leu Missense 17/18 -
2-46603764-T-A EPAS1 c.1121T>A p.Phe374Tyr Missense 9/16 -
11-47359334-C-T MYBPC3 c.2320G>A p.Ala774Thr Missense 24/35 -
13-41134399-G-C FOXO1 c.1229C>G p.Pro410Arg Missense 2/3 -
17-37865688-C-T ERBB2 c.557C>T p.Thr186Ile Missense 4/27 -
16-4935694-C-G PPL c.2962G>C p.Gly988Arg Missense 22/22 -
9-136029406-T-C GBGT1 c.602A>G p.Tyr201Cys Missense 7/7 -
19-38875072-G-A GGN c.1939C>T p.Gln647* Nonsense 4/4 -
19-38875072-G-C GGN c.1939C>G p.Gln647Glu Missense 4/4 -
16-4935694-C-A PPL c.2962G>T p.Gly988Trp Missense 22/22 -
16-4935694-C-T PPL c.2962G>A p.Gly988Arg Missense 22/22 -
3-120394672-A-T HGD c.54T>A p.Asp18Glu Missense 2/14 -
3-184648315-G-A VPS8 c.2851G>A p.Glu951Lys Missense 33/47 -
17-47246211-C-T B4GALNT2 c.1444C>T p.Arg482* Nonsense 10/11 -
9-79985363-G-A VPS13A c.8776G>A p.Gly2926Ser Missense 65/69 -
14-96730863-C-T BDKRB1 c.844C>T p.Arg282* Nonsense 3/3 -
1-34330137-C-A CSMD2 c.801-17540G>T - IntronicSNV - 5/69
17-7578465-G-A TP53 c.465C>T p.Thr155Thr Synonymous 5/11 -
13-32907524-AGGTACCTCTGTCTTTTTTTTTTTGTAAATAGTACATATAGTTTTATAGATGACGATTCC-A BRCA2 c.1909_1910del2879 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/27 10/26
11-6891726-C-A OR10A2 c.741C>A p.Phe247Leu Missense 1/1 -
11-62298022-C-G AHNAK c.342+4453G>C - IntronicSNV - 4/5
17-7578465-G-T TP53 c.465C>A p.Thr155Thr Synonymous 5/11 -
19-42841018-C-T MEGF8 c.1304C>T p.Thr435Met Missense 7/41 -
9-131467682-G-A PKN3 c.125G>A p.Arg42His Missense 2/22 -
12-21229413-G-A SLCO1B7 c.1634G>A p.Gly545Glu Missense 12/13 -
2-233164774-C-T DIS3L2 c.1684C>T p.His562Tyr Missense 14/21 -
19-40580431-C-G ZNF780A c.1918G>C p.Ala640Pro Missense 6/6 -
19-40580431-C-T ZNF780A c.1918G>A p.Ala640Thr Missense 6/6 -
14-51288636-G-C NIN c.139C>G p.Pro47Ala Missense 3/30 -
11-1078456-C-T MUC2 c.664C>T p.Arg222Cys Missense 6/51 -
6-158485972-G-A SYNJ2 c.1474G>A p.Glu492Lys Missense 11/27 -
15-28358774-C-T HERC2 c.13964G>A p.Arg4655His Missense 91/93 -
6-147635108-C-G STXBP5 c.1234C>G p.Leu412Val Missense 12/28 -
2-179476308-G-T TTN c.42944C>A p.Pro14315His Missense 218/312 -
2-179476308-G-A TTN c.42944C>T p.Pro14315Leu Missense 218/312 -
10-134621945-C-T CFAP46 c.8128G>A p.Val2710Met Missense 58/58 -
13-32911202-G-A BRCA2 c.2710G>A p.Gly904Arg Missense 11/27 -
6-161007619-G-A LPA c.3991C>T p.Arg1331Cys Missense 25/39 -
X-55039952-G-A ALAS2 c.1567C>T p.His523Tyr Missense 10/11 -
X-55039952-G-T ALAS2 c.1567C>A p.His523Asn Missense 10/11 -
3-50112609-G-C RBM6 c.3117-25G>C - IntronicSNV - 19/20
13-32907180-GGT-G BRCA2 c.1565_1566delGT p.Gly522Alafs*4 Frameshift 10/27 -
9-5770093-A-T RIC1 c.3431A>T p.Glu1144Val Missense 23/26 -
2-113593794-G-T IL1B c.13C>A p.Pro5Thr Missense 2/7 -
17-18154791-C-G FLII c.1384G>C p.Glu462Gln Missense 13/30 -
5-167653121-G-A TENM2 c.5110G>A p.Val1704Met Missense 25/30 -
17-37866390-C-T ERBB2 c.695C>T p.Pro232Leu Missense 6/27 -
20-60892011-C-A LAMA5 c.7580G>T p.Arg2527Leu Missense 56/80 -
4-79328847-C-T FRAS1 c.4160C>T p.Ala1387Val Missense 31/42 -
10-134621945-C-G CFAP46 c.8128G>C p.Val2710Leu Missense 58/58 -
6-161007619-G-T LPA c.3991C>A p.Arg1331Ser Missense 25/39 -
X-55039952-G-C ALAS2 c.1567C>G p.His523Asp Missense 10/11 -
3-50112609-G-T RBM6 c.3117-25G>T - IntronicSNV - 19/20
9-5770093-A-G RIC1 c.3431A>G p.Glu1144Gly Missense 23/26 -
17-7684442-A-T DNAH2 c.6086A>T p.Asp2029Val Missense 39/86 -
17-7684442-A-C DNAH2 c.6086A>C p.Asp2029Ala Missense 39/86 -
17-7684442-A-G DNAH2 c.6086A>G p.Asp2029Gly Missense 39/86 -
17-7579497-G-C TP53 c.190C>G p.Pro64Ala Missense 4/11 -
15-44856862-G-A SPG11 c.6695C>T p.Pro2232Leu Missense 37/38 -
1-218520315-G-A TGFB2 c.272G>A p.Arg91His Missense 1/7 -
9-121929726-G-A BRINP1 c.1922C>T p.Ser641Leu Missense 8/8 -
19-11034281-C-T YIPF2 c.724G>A p.Gly242Arg Missense 8/10 -
20-60892011-C-T LAMA5 c.7580G>A p.Arg2527His Missense 56/80 -
19-9056616-G-A MUC16 c.30830C>T p.Thr10277Ile Missense 3/84 -
14-102507911-C-G DYNC1H1 c.11942C>G p.Thr3981Arg Missense 65/78 -
12-53555083-G-A CSAD c.874C>T p.Arg292Cys Missense 11/17 -
4-1729887-G-T TACC3 c.758G>T p.Gly253Val Missense 4/16 -
4-1729887-G-A TACC3 c.758G>A p.Gly253Asp Missense 4/16 -
16-20439162-G-T ACSM5 c.974G>T p.Arg325Leu Missense 7/14 -
1-204971736-A-G NFASC c.3149A>G p.Lys1050Arg Missense 27/30 -
15-77406854-G-C PEAK1 c.4885C>G p.Pro1629Ala Missense 8/8 -
17-43215099-G-A ACBD4 c.503-28G>A - IntronicSNV - 5/8
2-125660581-G-A CNTNAP5 c.3556G>A p.Ala1186Thr Missense 22/24 -
19-55481394-C-T NLRP2 c.11C>T p.Ser4Leu Missense 2/13 -
1-53352682-G-C ZYG11A c.2061G>C p.Gln687His Missense 13/14 -
17-37868610-GTG-ATC ERBB2 c.1057_1059delGTGinsATC p.Val353Ile Missense 9/27 -
1-110882077-G-T RBM15 c.50G>T p.Arg17Leu Missense 1/3 -
15-28473387-G-A HERC2 c.5441C>T p.Thr1814Met Missense 35/93 -
10-72489891-C-T ADAMTS14 c.988C>T p.Arg330Cys Missense 6/22 -
17-80043134-G-A FASN c.4267C>T p.Arg1423Cys Missense 24/43 -
7-105656471-G-A CDHR3 c.1426G>A p.Ala476Thr Missense 11/19 -
7-105656471-G-T CDHR3 c.1426G>T p.Ala476Ser Missense 11/19 -
5-142500573-A-G ARHGAP26 c.1559A>G p.Gln520Arg Missense 18/23 -
18-50832036-G-T DCC c.2000G>T p.Arg667Leu Missense 13/29 -
10-105218243-C-T CALHM1 c.266G>A p.Arg89Gln Missense 1/2 -
18-21492826-T-C LAMA3 c.2483T>C p.Met828Thr Missense 19/38 -
9-133759722-G-A ABL1 c.2102G>A p.Arg701Gln Missense 11/11 -
19-14000196-G-T C19orf57 c.1473C>A p.Asp491Glu Missense 6/8 -
7-55914251-C-G SEPT14 c.134G>C p.Arg45Thr Missense 3/10 -
12-46285585-G-C ARID2 c.4945G>C p.Val1649Leu Missense 17/21 -
17-40452768-G-T STAT5A c.869G>T p.Arg290Leu Missense 9/20 -
17-40452768-G-A STAT5A c.869G>A p.Arg290Gln Missense 9/20 -
13-39621897-T-A NHLRC3 c.878T>A p.Ile293Asn Missense 7/7 -
1-152193195-G-C HRNR c.910C>G p.Arg304Gly Missense 3/3 -
X-153690570-G-A PLXNA3 c.1237G>A p.Gly413Ser Missense 4/33 -
X-153690570-G-T PLXNA3 c.1237G>T p.Gly413Cys Missense 4/33 -
5-149677517-G-A ARSI c.970C>T p.Arg324Trp Missense 2/2 -
7-94989379-C-G PON3 c.971G>C p.Gly324Ala Missense 9/9 -
5-149677517-G-T ARSI c.970C>A p.Arg324Arg Synonymous 2/2 -
3-39230770-C-T XIRP1 c.167G>A p.Arg56His Missense 2/2 -
2-238287746-C-A COL6A3 c.2030G>T p.Arg677Leu Missense 6/44 -
21-30250573-G-T N6AMT1 c.479C>A p.Pro160Gln Missense 5/6 -
21-30250573-G-A N6AMT1 c.479C>T p.Pro160Leu Missense 5/6 -
2-238287746-C-T COL6A3 c.2030G>A p.Arg677His Missense 6/44 -
12-40713899-T-C LRRK2 c.4937T>C p.Met1646Thr Missense 34/51 -
20-44639599-C-G MMP9 c.559C>G p.Leu187Val Missense 4/13 -
20-44639599-C-A MMP9 c.559C>A p.Leu187Ile Missense 4/13 -
14-45579316-A-G PRPF39 c.1196A>G p.Asn399Ser Missense 9/14 -
X-102755560-G-T RAB40A c.125C>A p.Pro42Gln Missense 3/3 -
4-8620201-C-A CPZ c.1516C>A p.Pro506Thr Missense 9/10 -
20-44639599-C-T MMP9 c.559C>T p.Leu187Phe Missense 4/13 -
16-20429546-C-T ACSM5 c.370C>T p.Arg124Trp Missense 3/14 -
8-100155318-G-A VPS13B c.1768G>A p.Ala590Thr Missense 13/62 -
19-42406469-A-G ARHGEF1 c.1505A>G p.Tyr502Cys Missense 16/29 -
19-42406469-A-C ARHGEF1 c.1505A>C p.Tyr502Ser Missense 16/29 -
13-32893342-C-G BRCA2 c.196C>G p.Gln66Glu Missense 3/27 -
18-28992884-T-G DSG4 c.2449T>G p.Ser817Ala Missense 16/16 -
16-20429546-C-A ACSM5 c.370C>A p.Arg124Arg Synonymous 3/14 -
16-22268969-C-T EEF2K c.907C>T p.Arg303Cys Missense 9/18 -
2-179613191-T-C TTN c.10360+4660A>G - IntronicSNV - 45/311
3-183772604-C-T HTR3C c.163C>T p.Arg55Cys Missense 2/9 -
12-105431901-G-A ALDH1L2 c.2125C>T p.Leu709Phe Missense 18/23 -
5-80109479-T-G MSH3 c.2732T>G p.Leu911Trp Missense 20/24 -
13-32906840-G-GCG BRCA2 c.1225_1226insCG p.Glu409Alafs*22 Frameshift 10/27 -
1-15870933-G-A DNAJC16 c.614G>A p.Arg205His Missense 5/15 -
1-15870933-G-C DNAJC16 c.614G>C p.Arg205Pro Missense 5/15 -
17-7579455-C-T TP53 c.232G>A p.Ala78Thr Missense 4/11 -
3-179689390-G-A PEX5L c.85C>T p.Gln29* Nonsense 2/15 -
3-179689390-G-C PEX5L c.85C>G p.Gln29Glu Missense 2/15 -
6-20490428-G-A E2F3 c.772G>A p.Asp258Asn Missense 7/7 -
2-140990879-T-C LRP1B c.13676A>G p.Asn4559Ser Missense 91/91 -
14-94394770-C-T FAM181A c.325C>T p.Arg109Cys Missense 3/3 -
13-32912359-A-C BRCA2 c.3867A>C p.Lys1289Asn Missense 11/27 -
13-32912359-A-T BRCA2 c.3867A>T p.Lys1289Asn Missense 11/27 -
13-41134399-G-A FOXO1 c.1229C>T p.Pro410Leu Missense 2/3 -
4-100002537-G-C ADH5 c.323C>G p.Thr108Ser Missense 4/9 -
1-15870933-G-T DNAJC16 c.614G>T p.Arg205Leu Missense 5/15 -
1-167345342-A-G POU2F1 c.668A>G p.Asn223Ser Missense 7/16 -
17-37876083-G-T ERBB2 c.1942G>T p.Ala648Ser Missense 16/27 -
6-33372831-T-C KIFC1 c.959T>C p.Val320Ala Missense 7/11 -
17-37881314-C-G ERBB2 c.2506C>G p.Leu836Val Missense 21/27 -
17-8644974-G-A CCDC42 c.310C>T p.Arg104Trp Missense 4/7 -
15-89382103-G-A ACAN c.280G>A p.Val94Met Missense 3/16 -
12-124393917-C-G DNAH10 c.9571C>G p.Pro3191Ala Missense 57/78 -
19-7685787-G-A XAB2 c.1916C>T p.Ala639Val Missense 14/19 -
15-55652244-G-A CCPG1 c.1727C>T p.Ala576Val Missense 8/8 -
6-32551955-G-T HLA-DRB1 c.301C>A p.Arg101Arg Synonymous 2/6 -
3-38357067-T-C SLC22A14 c.1397T>C p.Leu466Pro Missense 8/10 -
3-38357067-T-A SLC22A14 c.1397T>A p.Leu466His Missense 8/10 -
17-8638536-T-A CCDC42 c.751A>T p.Lys251* Nonsense 6/7 -
6-32551955-G-C HLA-DRB1 c.301C>G p.Arg101Gly Missense 2/6 -
6-32551955-G-A HLA-DRB1 c.301C>T p.Arg101Trp Missense 2/6 -
17-37264441-G-A PLXDC1 c.527C>T p.Ala176Val Missense 5/14 -
7-158829449-C-T VIPR2 c.742G>A p.Gly248Arg Missense 7/13 -
15-53081265-G-T ONECUT1 c.817C>A p.Pro273Thr Missense 1/2 -
19-10334725-A-T S1PR2 c.857T>A p.Val286Asp Missense 2/2 -
8-13072158-C-G DLC1 c.1348+90620G>C - IntronicSNV - 5/17
19-10334725-A-G S1PR2 c.857T>C p.Val286Ala Missense 2/2 -
8-13072158-C-A DLC1 c.1348+90620G>T - IntronicSNV - 5/17
13-32899276-C-T BRCA2 c.380C>T p.Ala127Val Missense 4/27 -
5-138739707-C-T SPATA24 c.43G>A p.Val15Met Missense 1/6 -
11-6644232-C-T DCHS1 c.8675G>A p.Arg2892Gln Missense 21/21 -
12-121879022-C-A KDM2B c.3299G>T p.Arg1100Leu Missense 20/23 -
11-62259213-G-C AHNAK c.433C>G p.Pro145Ala Missense 5/6 -
9-86912927-C-T SLC28A3 c.677G>A p.Trp226* Nonsense 8/19 -
12-121879022-C-T KDM2B c.3299G>A p.Arg1100Gln Missense 20/23 -
17-77710990-C-T ENPP7 c.1177C>T p.Arg393Trp Missense 4/6 -
1-158639328-C-T SPTA1 c.1703G>A p.Arg568His Missense 14/52 -
1-158639328-C-G SPTA1 c.1703G>C p.Arg568Pro Missense 14/52 -
19-39016135-A-G RYR1 c.10619A>G p.Tyr3540Cys Missense 71/106 -
11-3660256-C-A ART5 c.797G>T p.Arg266Met Missense 3/4 -
16-1388672-C-G BAIAP3 c.122C>G p.Thr41Arg Missense 2/33 -
18-63492032-A-G CDH7 c.946A>G p.Lys316Glu Missense 6/12 -
8-134251279-G-A NDRG1 c.1027C>T p.Arg343Cys Missense 16/16 -
12-662412-G-C B4GALNT3 c.1323G>C p.Glu441Asp Missense 14/20 -
11-64575044-C-T MEN1 c.778G>A p.Glu260Lys Missense 4/10 -
6-11213709-T-A NEDD9 c.264A>T p.Gln88His Missense 2/7 -
6-11213709-T-C NEDD9 c.264A>G p.Gln88Gln Synonymous 2/7 -
7-107570040-A-G LAMB1 c.4562T>C p.Ile1521Thr Missense 30/34 -
7-107570040-A-C LAMB1 c.4562T>G p.Ile1521Ser Missense 30/34 -
13-103520565-A-G ERCC5 c.2636A>G p.Asn879Ser Missense 12/15 -
5-173416495-G-T C5orf47 c.229G>T p.Val77Phe Missense 1/5 -
7-44152266-C-T AEBP1 c.2327C>T p.Ala776Val Missense 18/21 -
12-44130331-C-T PUS7L c.1578G>A p.Met526Ile Missense 7/9 -
8-17541943-T-G MTUS1 c.2732A>C p.Lys911Thr Missense 7/15 -
2-175432636-G-A WIPF1 c.1295C>T p.Pro432Leu Missense 6/8 -
17-37882905-T-C ERBB2 c.2963T>C p.Val988Ala Missense 24/27 -
10-103826484-G-A HPS6 c.1253G>A p.Gly418Asp Missense 1/1 -
19-11034281-C-G YIPF2 c.724G>C p.Gly242Arg Missense 8/10 -
18-47109955-A-C LIPG c.1187A>C p.Asn396Thr Missense 8/10 -
18-47109955-A-G LIPG c.1187A>G p.Asn396Ser Missense 8/10 -
6-33373341-C-T KIFC1 c.1469C>T p.Ala490Val Missense 7/11 -
2-136262011-A-G ZRANB3 c.49T>C p.Cys17Arg Missense 2/21 -
6-35201057-A-G SCUBE3 c.691A>G p.Thr231Ala Missense 6/22 -
2-186665996-C-G FSIP2 c.11963C>G - missense_variant 17/23 -
2-186665996-C-T FSIP2 c.11963C>T - missense_variant 17/23 -
17-18025140-C-G MYO15A c.3026C>G p.Pro1009Arg Missense 2/66 -
10-92675322-G-A ANKRD1 c.827C>T p.Ala276Val Missense 8/9 -
4-69811110-A-T UGT2A3 c.778T>A p.Trp260Arg Missense 2/6 -
17-18025140-C-A MYO15A c.3026C>A p.Pro1009His Missense 2/66 -
1-20027301-G-A TMCO4 c.1342C>T p.Arg448Trp Missense 14/16 -
4-69811110-A-C UGT2A3 c.778T>G p.Trp260Gly Missense 2/6 -
1-45797139-G-A MUTYH c.1267C>T p.Arg423Cys Missense 13/16 -
X-140993801-G-C MAGEC1 c.611G>C p.Arg204Pro Missense 4/4 -
X-140993801-G-T MAGEC1 c.611G>T p.Arg204Leu Missense 4/4 -
10-50824106-C-G CHAT c.287-442C>G - IntronicSNV - 1/14
4-6862665-G-A KIAA0232 c.556G>A p.Val186Ile Missense 7/10 -
2-97757290-C-T FAHD2B c.154G>A p.Val52Ile Missense 2/8 -
13-32367033-C-T RXFP2 c.1594C>T p.Arg532* Nonsense 16/18 -
15-91310183-C-T BLM c.2237C>T p.Ala746Val Missense 10/22 -
17-7573006-GTGGCTGTAGGAGACAGAAGCAGGGAGGAGAGATGACATCACATGAGTGAGAGGGTCTGT-G TP53 c.1099_1103del923 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/11 10/10
3-128852936-T-C ISY1-RAB43 c.644A>G p.Tyr215Cys Missense 9/13 -
X-78618948-G-C ITM2A c.215C>G p.Ala72Gly Missense 2/6 -
X-78618948-G-A ITM2A c.215C>T p.Ala72Val Missense 2/6 -
20-43836950-G-C SEMG1 c.1012G>C p.Glu338Gln Missense 2/3 -
6-152757224-G-T SYNE1 c.4162C>A p.Arg1388Arg Synonymous 33/146 -
14-105169758-C-T INF2 c.634C>T p.Arg212Cys Missense 4/23 -
6-152757224-G-A SYNE1 c.4162C>T p.Arg1388Trp Missense 33/146 -
14-105609442-C-T JAG2 c.3307G>A p.Val1103Met Missense 26/26 -
13-39621965-G-A NHLRC3 c.946G>A p.Asp316Asn Missense 7/7 -
5-177637232-C-T HNRNPAB c.788-322C>T - IntronicSNV - 6/6
X-140993258-A-T MAGEC1 c.68A>T p.Gln23Leu Missense 4/4 -
17-37879577-T-G ERBB2 c.1952T>G p.Leu651Arg Missense 17/27 -
8-17500162-T-A PDGFRL c.980T>A p.Ile327Asn Missense 7/7 -
8-17500162-T-C PDGFRL c.980T>C p.Ile327Thr Missense 7/7 -
20-47865924-T-C ZNFX1 c.3637A>G p.Ile1213Val Missense 14/14 -
13-32900263-GTA-ATG BRCA2 c.451_453delGTAinsATG p.Val151Met Missense 5/27 -
8-30916058-A-G WRN c.95A>G p.Lys32Arg Missense 2/35 -
5-112228668-C-A REEP5 c.352-5788G>T - IntronicSNV - 3/4
6-33283594-G-A ZBTB22 c.1100C>T p.Pro367Leu Missense 2/2 -
11-62302555-G-A AHNAK c.262C>T p.Arg88Cys Missense 4/6 -
2-27724663-A-G GCKR c.644+567A>G - IntronicSNV - 8/18
3-184603910-G-A VPS8 c.1741G>A p.Val581Ile Missense 21/47 -
9-98011497-G-A FANCC c.77C>T p.Ser26Phe Missense 2/15 -
7-100839291-T-A MOGAT3 c.962A>T p.Gln321Leu Missense 7/7 -
17-76481041-A-C DNAH17 c.7558T>G p.Phe2520Val Missense 48/81 -
17-18027809-C-T MYO15A c.3622C>T p.Arg1208Cys Missense 3/66 -
10-104359297-G-T SUFU c.1018G>T p.Ala340Ser Missense 8/12 -
13-32900715-C-T BRCA2 c.596C>T p.Ala199Val Missense 7/27 -
6-32032790-G-A TNXB c.6649C>T p.Pro2217Ser Missense 19/44 -
14-77732925-T-C NGB c.410A>G p.Tyr137Cys Missense 4/4 -
9-135977479-G-C RALGDS c.2057C>G p.Ser686Cys Missense 15/18 -
1-206905941-G-T MAPKAPK2 c.*505G>T - 3-UTRSNV 10/10 -
2-30987041-G-C CAPN13 c.656C>G p.Ala219Gly Missense 6/23 -
2-187540395-G-A ITGAV c.2771G>A p.Ser924Asn Missense 27/30 -
17-37873661-C-T ERBB2 c.1826C>T p.Ser609Phe Missense 15/27 -
2-187540395-G-T ITGAV c.2771G>T p.Ser924Ile Missense 27/30 -
15-90997745-G-A IQGAP1 c.1573G>A p.Val525Met Missense 14/38 -
3-69087870-C-G TMF1 c.1996G>C p.Glu666Gln Missense 8/17 -
22-38121652-C-T TRIOBP c.3089C>T p.Pro1030Leu Missense 7/24 -
7-23224779-G-GG NUPL2 c.212_212dup p.Ser72Glnfs*13 Frameshift 2/7 -
22-38121652-C-G TRIOBP c.3089C>G p.Pro1030Arg Missense 7/24 -
6-152576061-C-T SYNE1 c.19424G>A p.Arg6475Gln Missense 104/146 -
8-38677346-C-T TACC1 c.584C>T p.Ala195Val Missense 3/13 -
8-8235510-G-A PRAG1 c.409C>T p.Arg137* Nonsense 3/6 -
22-46688704-C-A TTC38 c.1333C>A p.Arg445Ser Missense 14/14 -
11-3660256-C-T ART5 c.797G>A p.Arg266Lys Missense 3/4 -
1-229663025-C-G ABCB10 c.1676G>C p.Arg559Pro Missense 9/13 -
1-229663025-C-A ABCB10 c.1676G>T p.Arg559Leu Missense 9/13 -
1-229663025-C-T ABCB10 c.1676G>A p.Arg559His Missense 9/13 -
19-9082456-G-A MUC16 c.9359C>T p.Thr3120Ile Missense 1/84 -
20-35740732-A-G MROH8 c.2809T>C - missense_variant 21/25 -
8-134251279-G-T NDRG1 c.1027C>A p.Arg343Ser Missense 16/16 -
17-7579536-C-A TP53 c.151G>T p.Glu51* Nonsense 4/11 -
16-2120559-G-A TSC2 c.1819G>A p.Ala607Thr Missense 17/42 -
13-32913026-CGT-TGG BRCA2 c.4534_4536delCGTinsTGG p.Arg1512Trp Missense 11/27 -
14-73733285-G-A PAPLN c.3259G>A p.Ala1087Thr Missense 23/26 -
17-5012622-C-T ZNF232 c.498+67G>A - IntronicSNV - 3/4
1-6639073-G-A TAS1R1 c.1955G>A p.Arg652His Missense 6/6 -
21-40717137-C-T HMGN1 c.190G>A p.Glu64Lys Missense 5/6 -
2-198948627-G-A PLCL1 c.386G>A p.Arg129His Missense 2/6 -
1-146684095-T-C FMO5 c.496A>G p.Lys166Glu Missense 5/9 -
7-893208-G-A SUN1 c.967G>A p.Gly323Arg Missense 9/18 -
1-158589121-G-T SPTA1 c.6421C>A p.Arg2141Arg Synonymous 45/52 -
6-33282922-T-C ZBTB22 c.1772A>G p.Glu591Gly Missense 2/2 -
4-178283446-G-T NEIL3 c.1639G>T p.Ala547Ser Missense 10/10 -
2-128522189-T-C WDR33 c.626+213A>G - IntronicSNV - 6/21
1-158589121-G-C SPTA1 c.6421C>G p.Arg2141Gly Missense 45/52 -
1-158589121-G-A SPTA1 c.6421C>T p.Arg2141Trp Missense 45/52 -
1-45500083-C-T ZSWIM5 c.2350G>A p.Val784Met Missense 11/14 -
1-209801479-C-T LAMB3 c.1189G>A p.Gly397Arg Missense 11/23 -
1-54605319-G-GCC CDCP2 c.1223_1224insGG p.Met409Alafs*2 Frameshift 5/5 -
22-40364122-G-T GRAP2 c.536G>T p.Arg179Leu Missense 6/8 -
22-40364122-G-A GRAP2 c.536G>A p.Arg179Gln Missense 6/8 -
6-150005429-G-C LATS1 c.796C>G p.Pro266Ala Missense 4/8 -
8-144620334-C-G ZC3H3 c.1203G>C p.Lys401Asn Missense 2/12 -
6-150005429-G-T LATS1 c.796C>A p.Pro266Thr Missense 4/8 -
6-150005429-G-A LATS1 c.796C>T p.Pro266Ser Missense 4/8 -
16-20963832-C-T DNAH3 c.11111G>A p.Arg3704Lys Missense 56/62 -
1-147084683-A-G BCL9 c.55A>G p.Ser19Gly Missense 5/10 -
20-32255678-A-T ACTL10 c.375A>T p.Glu125Asp Missense 1/1 -
12-31820718-C-G ETFBKMT c.583C>G p.Leu195Val Missense 4/4 -
12-31820718-C-T ETFBKMT c.583C>T p.Leu195Phe Missense 4/4 -
2-96963419-T-C SNRNP200 c.1159A>G p.Met387Val Missense 10/45 -
9-78790138-A-G PCSK5 c.1900+93A>G - IntronicSNV - 14/36
7-48278988-C-G ABCA13 c.1048C>G p.Arg350Gly Missense 9/62 -
12-65448985-C-T WIF1 c.931G>A p.Glu311Lys Missense 9/10 -
2-141298635-C-T LRP1B c.7420G>A p.Gly2474Ser Missense 45/91 -
10-13166053-A-T OPTN c.941A>T p.Gln314Leu Missense 8/14 -
17-37868666-T-G ERBB2 c.1113T>G p.Phe371Leu Missense 9/27 -
1-34330137-C-T CSMD2 c.801-17540G>A - IntronicSNV - 5/69
19-52888358-C-T ZNF880 c.1525C>T p.Arg509* Nonsense 4/4 -
2-113513557-C-T CKAP2L c.1391G>A p.Arg464Gln Missense 4/9 -
13-25280563-C-A ATP12A c.2131C>A p.Gln711Lys Missense 15/23 -
17-7579548-G-A TP53 c.139C>T p.Pro47Ser Missense 4/11 -
17-37882871-TC-CT ERBB2 c.2929_2930delTCinsCT p.Ser977Leu Missense 24/27 -
1-152277797-C-G FLG c.9565G>C p.Ala3189Pro Missense 3/3 -
17-37866369-C-T ERBB2 c.674C>T p.Ala225Val Missense 6/27 -
12-88500556-C-T CEP290 c.2713G>A p.Glu905Lys Missense 25/54 -
22-45204203-C-T PRR5-ARHGAP8 c.550C>T p.Leu184Leu Synonymous 6/15 -
13-32899235-GA-G BRCA2 c.339delA p.Arg113Serfs*8 Frameshift 4/27 -
1-152277797-C-A FLG c.9565G>T p.Ala3189Ser Missense 3/3 -
17-76118721-G-A TMC6 c.1192C>T p.Arg398Cys Missense 10/20 -
6-83900694-T-C PGM3 c.38A>G p.His13Arg Missense 2/13 -
4-129770150-G-T JADE1 c.312G>T p.Glu104Asp Missense 5/9 -
13-23913826-C-T SACS c.4189G>A p.Glu1397Lys Missense 10/10 -
9-140069828-C-T ANAPC2 c.2117G>A p.Arg706His Missense 12/13 -
7-44156490-C-T POLD2 c.706G>A p.Ala236Thr Missense 6/11 -
13-23913826-C-G SACS c.4189G>C p.Glu1397Gln Missense 10/10 -
12-68720687-G-A MDM1 c.248C>T p.Ser83Leu Missense 3/3 -
4-90816203-G-T MMRN1 c.81G>T p.Trp27Cys Missense 1/8 -
3-180334078-A-AA CCDC39 c.2660_2660dup p.Ser888Ilefs*6 Frameshift 19/20 -
10-103826484-G-T HPS6 c.1253G>T p.Gly418Val Missense 1/1 -
3-186330934-A-T AHSG c.4A>T p.Lys2* Nonsense 1/7 -
17-45214698-C-G CDC27 c.1751G>C p.Ser584Thr Missense 14/19 -
2-197767367-C-T PGAP1 c.749G>A p.Arg250His Missense 5/27 -
3-52436832-C-T BAP1 c.1946G>A p.Cys649Tyr Missense 15/17 -
13-114309237-C-T ATP4B c.133G>A p.Val45Met Missense 2/7 -
10-101610499-A-C ABCC2 c.4454A>C p.His1485Pro Missense 31/32 -
19-48602951-C-A PLA2G4C c.454G>T p.Val152Phe Missense 5/17 -
9-124072992-G-C GSN c.535G>C p.Val179Leu Missense 4/17 -
1-6639073-G-T TAS1R1 c.1955G>T p.Arg652Leu Missense 6/6 -
17-45234430-A-G CDC27 c.691T>C p.Ser231Pro Missense 7/19 -
16-20976519-C-T DNAH3 c.8687G>A p.Arg2896His Missense 53/62 -
12-117691500-C-T NOS1 c.2591G>A p.Gly864Asp Missense 17/29 -
11-122945462-G-C CLMP c.769C>G p.Arg257Gly Missense 6/7 -
11-122945462-G-A CLMP c.769C>T p.Arg257* Nonsense 6/7 -
21-43161672-C-G RIPK4 c.1681G>C p.Val561Leu Missense 8/8 -
4-90872862-C-A MMRN1 c.3225C>A p.Asn1075Lys Missense 7/8 -
5-41007422-A-C MROH2B c.3743T>G p.Leu1248Arg Missense 34/42 -
7-21945240-G-A CDCA7L c.931C>T p.Arg311Trp Missense 7/10 -
9-35740902-C-G GBA2 c.946G>C p.Gly316Arg Missense 5/17 -
7-132193335-A-G PLXNA4 c.118T>C p.Phe40Leu Missense 3/5 -
13-32906600-AG-CC BRCA2 c.985_986delAGinsCC p.Arg329Pro Missense 10/27 -
13-32906600-AG-CA BRCA2 c.985_986delAGinsCA p.Arg329Gln Missense 10/27 -
7-891100-G-T SUN1 c.509-487G>T - IntronicSNV - 5/17
20-5966763-A-G MCM8 c.2149A>G p.Ile717Val Missense 16/19 -
6-150022977-G-A LATS1 c.286C>T p.Arg96Trp Missense 2/8 -
17-7572982-AGAC-A TP53 c.1125_1127delGTC p.Gln375_ser376delinsHis MultiAAMissense 11/11 -
1-53668099-C-T CPT2 c.338C>T p.Ser113Leu Missense 3/5 -
17-37866453-T-A ERBB2 c.758T>A p.Leu253Gln Missense 6/27 -
3-188327604-C-T LPP c.1085C>T p.Ala362Val Missense 6/11 -
4-8605860-C-T CPZ c.621C>T p.Asp207Asp Synonymous 3/10 -
17-41981843-G-C MPP2 c.1-15C>G - 5-UTRSNV 2/13 -
17-41981843-G-A MPP2 c.1-15C>T - 5-UTRSNV 2/13 -
4-169632895-C-G PALLD c.1785C>G p.Ser595Arg Missense 10/21 -
11-5364049-G-C OR51B5 c.706C>G p.Leu236Val Missense 5/5 -
4-8605860-C-A CPZ c.621C>A p.Asp207Glu Missense 3/10 -
16-16142079-G-T ABCC1 c.1299G>T p.Arg433Ser Missense 10/31 -
17-37864770-A-C ERBB2 c.422A>C p.Gln141Pro Missense 3/27 -
9-131397116-C-G WDR34 c.1066G>C p.Gly356Arg Missense 7/9 -
5-79031745-A-G CMYA5 c.7157A>G p.Gln2386Arg Missense 2/13 -
3-193185248-G-T ATP13A4 c.971C>A p.Pro324Gln Missense 10/30 -
2-179584437-C-G TTN c.20050G>C p.Glu6684Gln Missense 79/312 -
11-121454211-G-A SORL1 c.3625G>A p.Gly1209Arg Missense 26/48 -
X-140993747-C-T MAGEC1 c.557C>T p.Thr186Ile Missense 4/4 -
X-57515249-G-C FAAH2 c.1483G>C p.Gly495Arg Missense 11/11 -
16-68387410-C-T PRMT7 c.1591C>T p.Arg531Trp Missense 16/19 -
X-57515249-G-A FAAH2 c.1483G>A p.Gly495Arg Missense 11/11 -
2-182542838-G-A NEUROD1 c.750C>T p.Ser250Ser Synonymous 2/2 -
15-57484419-C-T TCF12 c.454C>T p.Pro152Ser Missense 7/20 -
6-152694231-C-T SYNE1 c.9448G>A p.Ala3150Thr Missense 59/146 -
19-758613-G-A MISP c.1667G>A p.Arg556His Missense 2/5 -
20-3729011-C-T HSPA12B c.823C>T p.Arg275Cys Missense 8/13 -
9-132671178-A-G FNBP1 c.1286T>C p.Met429Thr Missense 12/17 -
9-134504021-G-A RAPGEF1 c.881C>T p.Ala294Val Missense 8/24 -
3-75787194-C-A ZNF717 c.1580G>T p.Arg527Ile Missense 5/5 -
2-27729379-C-G GCKR c.901C>G p.Arg301Gly Missense 11/19 -
2-27729379-C-T GCKR c.901C>T p.Arg301* Nonsense 11/19 -
15-41148092-C-T SPINT1 c.1120C>T p.His374Tyr Missense 9/11 -
8-124094998-G-T TBC1D31 c.281G>T p.Arg94Leu Missense 3/22 -
8-124094998-G-A TBC1D31 c.281G>A p.Arg94His Missense 3/22 -
1-235715488-C-T GNG4 c.149G>A p.Arg50Gln Missense 3/3 -
15-99451976-G-A IGF1R c.1310G>A p.Arg437His Missense 6/21 -
1-54605319-G-GC CDCP2 c.1223_1224insG p.Met409Hisfs*81 Frameshift 5/5 -
1-226037619-G-A TMEM63A c.2065C>T p.Arg689Cys Missense 21/25 -
1-54605319-G-GT CDCP2 c.1223_1224insA p.Met409Hisfs*81 Frameshift 5/5 -
15-90167197-G-T TICRR c.3656G>T p.Ser1219Ile Missense 20/22 -
5-93990395-A-C SLF1 c.1093A>C p.Lys365Gln Missense 9/21 -
1-235884023-G-A LYST c.9498C>T p.Phe3166Phe Synonymous 40/53 -
4-42445607-G-A ATP8A1 c.3098C>T p.Pro1033Leu Missense 33/37 -
1-235884023-G-C LYST c.9498C>G p.Phe3166Leu Missense 40/53 -
11-126162947-C-G TIRAP c.643C>G p.Arg215Gly Missense 5/5 -
17-7579485-C-T TP53 c.202G>A p.Glu68Lys Missense 4/11 -
11-126162947-C-A TIRAP c.643C>A p.Arg215Ser Missense 5/5 -
11-126162947-C-T TIRAP c.643C>T p.Arg215Cys Missense 5/5 -
17-37872153-G-T ERBB2 c.1474G>T p.Ala492Ser Missense 12/27 -
17-73559233-G-A LLGL2 c.667G>A p.Val223Met Missense 7/25 -
19-46332369-C-A SYMPK c.1844G>T p.Arg615Leu Missense 14/27 -
16-75276702-G-A BCAR1 c.299C>T p.Thr100Met Missense 2/7 -
19-46332369-C-T SYMPK c.1844G>A p.Arg615His Missense 14/27 -
2-114500349-C-T SLC35F5 c.670G>A p.Glu224Lys Missense 7/16 -
2-114500349-C-A SLC35F5 c.670G>T p.Glu224* Nonsense 7/16 -
1-95538342-C-A ALG14 c.113G>T p.Ser38Ile Missense 1/4 -
1-95538342-C-T ALG14 c.113G>A p.Ser38Asn Missense 1/4 -
12-68724924-T-TT MDM1 c.98_98dup p.Tyr34Valfs*7 Frameshift 2/3 -
1-20027301-G-T TMCO4 c.1342C>A p.Arg448Arg Synonymous 14/16 -
8-15605938-C-G TUSC3 c.992C>G p.Ser331* Nonsense 9/11 -
18-19154339-T-C ESCO1 c.466A>G p.Lys156Glu Missense 4/12 -
1-152192121-G-C HRNR c.1984C>G p.Arg662Gly Missense 3/3 -
8-15605938-C-A TUSC3 c.992C>A p.Ser331* Nonsense 9/11 -
1-117142860-C-T IGSF3 c.1792G>A p.Val598Met Missense 8/12 -
17-37884049-TC-CG ERBB2 c.3520_3521delTCinsCG p.Ser1174Arg Missense 27/27 -
2-232894725-G-T DIS3L2 c.301G>T p.Ala101Ser Missense 5/21 -
1-152192121-G-T HRNR c.1984C>A p.Arg662Ser Missense 3/3 -
4-148546142-C-T TMEM184C c.479C>T p.Pro160Leu Missense 4/10 -
1-242042364-A-G EXO1 c.1828A>G p.Ser610Gly Missense 11/14 -
17-37865670-C-T ERBB2 c.539C>T p.Ala180Val Missense 4/27 -
10-32308786-G-A KIF5B c.2306C>T p.Thr769Met Missense 20/26 -
19-42879956-A-G MEGF8 c.7366A>G p.Thr2456Ala Missense 41/41 -
17-42477385-T-C GPATCH8 c.2060A>G p.His687Arg Missense 8/8 -
22-23915761-C-T IGLL1 c.334G>A p.Ala112Thr Missense 3/3 -
19-48953603-G-T GRWD1 c.502G>T p.Val168Leu Missense 4/7 -
17-37871558-G-A ERBB2 c.1168G>A p.Ala390Thr Missense 10/27 -
3-58870326-T-G C3orf67 c.285A>C p.Lys95Asn Missense 7/16 -
17-7578179-C-T TP53 c.670G>A p.Glu224Lys Missense 6/11 -
12-18891466-C-A CAPZA3 c.264C>A p.Ser88Arg Missense 1/1 -
12-18891466-C-G CAPZA3 c.264C>G p.Ser88Arg Missense 1/1 -
6-161022107-C-T LPA c.2969G>A p.Arg990Gln Missense 19/39 -
1-167515428-G-A CREG1 c.569C>T p.Ala190Val Missense 3/4 -
17-7579506-C-T TP53 c.181G>A p.Asp61Asn Missense 4/11 -
14-68050566-C-T PLEKHH1 c.3535C>T p.Arg1179Cys Missense 25/29 -
16-3534831-C-G NAA60 c.705C>G p.Gly235Gly Synonymous 6/7 -
11-1775352-C-T CTSD c.844G>A p.Gly282Arg Missense 7/9 -
12-102158956-T-C GNPTAB c.1739A>G p.Tyr580Cys Missense 13/21 -
18-77679298-A-G PQLC1 c.494T>C p.Ile165Thr Missense 5/6 -
1-160321967-C-T NCSTN c.967C>T p.Arg323Cys Missense 8/17 -
17-7579347-AAGAA-A TP53 c.338_341delTCTT p.Phe113Cysfs*9 Frameshift 4/11 -
13-36239272-G-T NBEA c.8350G>T p.Val2784Phe Missense 55/58 -
11-47663963-G-A MTCH2 c.55C>T p.Gln19* Nonsense 1/13 -
X-132888183-G-A GPC3 c.358C>T p.Arg120Cys Missense 3/8 -
4-55964922-G-A KDR c.2315C>T p.Ala772Val Missense 16/30 -
10-116213225-C-T ABLIM1 c.1279G>A p.Gly427Ser Missense 13/23 -
8-144589985-G-A ZC3H3 c.1646C>T p.Ser549Leu Missense 4/12 -
X-102755560-G-A RAB40A c.125C>T p.Pro42Leu Missense 3/3 -
11-17655816-G-C OTOG c.7504G>C p.Gly2502Arg Missense 43/55 -
2-238289980-G-C COL6A3 c.1475C>G p.Thr492Ser Missense 5/44 -
X-24759542-A-G POLA1 c.2249A>G p.Lys750Arg Missense 21/37 -
7-151853100-C-A KMT2C c.11855G>T p.Arg3952Ile Missense 46/59 -
3-113082077-T-G CFAP44 c.2849A>C p.Glu950Ala Missense 21/21 -
1-3683159-A-C CCDC27 c.1513A>C p.Asn505His Missense 9/12 -
22-29446480-G-A ZNRF3 c.2311G>A p.Gly771Arg Missense 8/9 -
13-32890602-C-G BRCA2 c.5C>G p.Pro2Arg Missense 2/27 -
22-29446480-G-C ZNRF3 c.2311G>C p.Gly771Arg Missense 8/9 -
19-49339623-C-A HSD17B14 c.46G>T p.Gly16Trp Missense 1/9 -
17-39324123-C-T KRTAP4-3 c.302G>A p.Arg101His Missense 1/1 -
4-79328846-G-T FRAS1 c.4159G>T p.Ala1387Ser Missense 31/42 -
6-32151427-G-A AGER c.260C>T p.Pro87Leu Missense 3/11 -
1-100949904-G-A CDC14A c.1034G>A p.Arg345Gln Missense 11/15 -
5-138739707-C-A SPATA24 c.43G>T p.Val15Leu Missense 1/6 -
17-72846368-C-T GRIN2C c.1468G>A p.Val490Ile Missense 6/13 -
13-32906537-T-C BRCA2 c.922T>C p.Phe308Leu Missense 10/27 -
3-39226336-G-A XIRP1 c.4601C>T p.Thr1534Met Missense 2/2 -
10-126716115-G-A CTBP2 c.58+11451C>T - IntronicSNV - 3/10
13-32910431-CTGTT-C BRCA2 c.1939_1942delTGTT p.Cys647Hisfs*12 Frameshift 11/27 -
17-7573959-CCC-AGC TP53 c.1066_1068delGGGinsAGC p.Gly356Ser Missense 10/11 -
1-235929555-G-A LYST c.5945C>T p.Thr1982Ile Missense 21/53 -
19-52091068-G-T ZNF175 c.1484G>T p.Arg495Leu Missense 5/5 -
12-118199278-G-A KSR2 c.524C>T - missense_variant 4/20 -
12-118199278-G-C KSR2 c.524C>G - missense_variant 4/20 -
10-27687638-C-T PTCHD3 c.1889G>A p.Arg630Gln Missense 4/4 -
1-170129701-T-C METTL11B c.197T>C p.Met66Thr Missense 2/4 -
18-74091731-C-T ZNF516 c.2339G>A p.Arg780His Missense 4/8 -
19-9082456-G-T MUC16 c.9359C>A p.Thr3120Asn Missense 1/84 -
11-1017504-G-A MUC6 c.5297C>T p.Thr1766Ile Missense 31/33 -
5-178139380-C-T ZNF354A c.1499G>A p.Gly500Glu Missense 5/5 -
6-170070759-G-C WDR27 c.362C>G p.Ser121Trp Missense 4/26 -
17-7578476-G-A TP53 c.454C>T p.Pro152Ser Missense 5/11 -
6-170070759-G-T WDR27 c.362C>A p.Ser121* Nonsense 4/26 -
6-170070759-G-A WDR27 c.362C>T p.Ser121Leu Missense 4/26 -
6-111688947-T-A REV3L c.6044A>T p.Glu2015Val Missense 15/33 -
10-102256987-C-T SEC31B c.2041G>A p.Glu681Lys Missense 17/26 -
10-24813493-T-C KIAA1217 c.2698T>C p.Ser900Pro Missense 13/21 -
3-41949348-G-A ULK4 c.1171C>T p.Pro391Ser Missense 12/37 -
10-43882669-T-C HNRNPF c.664A>G p.Ile222Val Missense 4/4 -
17-45221273-A-C CDC27 c.1164T>G p.Phe388Leu Missense 10/19 -
22-39137513-C-T SUN2 c.1195G>A p.Val399Ile Missense 10/18 -
13-61986858-A-C PCDH20 c.1374T>G p.Asp458Glu Missense 2/2 -
1-147084965-C-T BCL9 c.337C>T p.Pro113Ser Missense 5/10 -
14-64066066-C-T WDR89 c.595G>A p.Asp199Asn Missense 3/3 -
7-95222201-T-C PDK4 c.400A>G p.Met134Val Missense 4/11 -
7-121718017-T-C AASS c.2537A>G p.His846Arg Missense 23/24 -
X-140993747-C-G MAGEC1 c.557C>G p.Thr186Ser Missense 4/4 -
19-9069507-G-T MUC16 c.17939C>A p.Thr5980Asn Missense 3/84 -
1-113637053-G-A LRIG2 c.608G>A p.Arg203Gln Missense 5/18 -
11-1253691-C-T MUC5B c.1855C>T p.Arg619Trp Missense 16/49 -
11-1253691-C-G MUC5B c.1855C>G p.Arg619Gly Missense 16/49 -
1-6266749-C-T RNF207 c.154C>T p.Arg52Cys Missense 2/18 -
19-55748011-C-T PPP6R1 c.1988G>A p.Arg663Gln Missense 17/24 -
11-128354963-T-C ETS1 c.485A>G p.Tyr162Cys Missense 5/8 -
19-35250448-C-T ZNF599 c.1258G>A p.Glu420Lys Missense 4/4 -
2-179600787-T-C TTN c.10654A>G p.Thr3552Ala Missense 47/312 -
9-123673673-T-C TRAF1 c.824A>G p.Asn275Ser Missense 6/8 -
19-35250448-C-A ZNF599 c.1258G>T p.Glu420* Nonsense 4/4 -
17-37872848-TG-T ERBB2 c.1727delG p.Cys576Phefs*29 Frameshift 14/27 -
2-179597590-T-C TTN c.12581A>G p.Lys4194Arg Missense 52/312 -
17-27896342-C-T TP53I13 c.148C>T p.Pro50Ser Missense 3/7 -
4-129891542-C-A SCLT1 c.768G>T p.Met256Ile Missense 10/21 -
X-2871204-C-G ARSE c.410G>C p.Gly137Ala Missense 5/11 -
X-2871204-C-A ARSE c.410G>T p.Gly137Val Missense 5/11 -
11-47363549-T-C MYBPC3 c.1783A>G p.Ile595Val Missense 18/35 -
5-112176819-C-T APC c.5528C>T p.Pro1843Leu Missense 16/16 -
7-95906535-C-T SLC25A13 c.185G>A p.Ser62Asn Missense 3/18 -
17-48559671-C-T RSAD1 c.694C>T p.Arg232Trp Missense 4/9 -
1-43777350-G-A TIE1 c.1342G>A p.Val448Met Missense 10/23 -
18-34298542-G-A FHOD3 c.2756G>A p.Arg919Gln Missense 16/25 -
10-50827796-C-T CHAT c.413C>T p.Pro138Leu Missense 3/15 -
10-50827796-C-G CHAT c.413C>G p.Pro138Arg Missense 3/15 -
10-50827796-C-A CHAT c.413C>A p.Pro138Gln Missense 3/15 -
1-216390763-G-T USH2A c.3123C>A p.His1041Gln Missense 15/21 -
3-185214748-G-C TMEM41A c.141C>G p.Asp47Glu Missense 2/5 -
7-111379198-G-A DOCK4 c.5197C>T p.Pro1733Ser Missense 48/52 -
17-33331503-G-A LIG3 c.3008G>A p.Arg1003Gln Missense 20/20 -
7-111379198-G-C DOCK4 c.5197C>G p.Pro1733Ala Missense 48/52 -
11-66460857-G-A SPTBN2 c.4654C>T p.Arg1552Cys Missense 23/37 -
17-37879690-AGA-TGT ERBB2 c.2065_2067delAGAinsTGT p.Arg689Cys Missense 17/27 -
14-105609442-C-A JAG2 c.3307G>T p.Val1103Leu Missense 26/26 -
7-117250575-G-C CFTR c.2991G>C p.Leu997Phe Missense 19/27 -
3-50005855-G-A RBM6 c.997G>A p.Glu333Lys Missense 3/21 -
13-77739411-A-T MYCBP2 c.6456T>A p.Asp2152Glu Missense 42/83 -
20-5935893-A-G MCM8 c.482A>G p.His161Arg Missense 5/19 -
17-7577093-CG-TA TP53 c.844_845delCGinsTA p.Arg282* Nonsense 8/11 -
21-45711025-C-G AIRE c.927C>G p.Ile309Met Missense 8/14 -
4-184182568-A-G WWC2 c.1792A>G p.Ser598Gly Missense 11/23 -
9-136595269-G-A SARDH c.731C>T p.Thr244Met Missense 5/21 -
10-95093661-G-A MYOF c.4573C>T p.Arg1525Trp Missense 42/54 -
2-170030537-G-A LRP2 c.10906C>T p.Arg3636Trp Missense 56/79 -
14-65258486-G-A SPTB c.2755C>T p.His919Tyr Missense 14/35 -
6-32729613-T-C HLA-DQB2 c.188A>G p.Glu63Gly Missense 2/5 -
3-48677389-C-T CELSR3 c.9629G>A p.Arg3210Gln Missense 34/35 -
13-32907140-AGA-TGG BRCA2 c.1525_1527delAGAinsTGG p.Arg509Trp Missense 10/27 -
7-121638042-A-G PTPRZ1 c.1222A>G p.Met408Val Missense 10/30 -
12-124907067-C-A NCOR2 c.1363G>T p.Ala455Ser Missense 14/49 -
18-46812845-T-G DYM c.905A>C p.Asn302Thr Missense 9/17 -
12-117725949-C-T NOS1 c.1057G>A p.Val353Ile Missense 5/29 -
16-31143814-G-A PRSS8 c.641C>T p.Pro214Leu Missense 5/6 -
9-78973431-G-A PCSK5 c.5176G>A p.Glu1726Lys Missense 37/37 -
19-40581579-G-A ZNF780A c.770C>T p.Ser257Phe Missense 6/6 -
3-39108050-T-G WDR48 c.280T>G p.Ser94Ala Missense 4/19 -
20-61981555-G-A CHRNA4 c.1208C>T p.Pro403Leu Missense 5/6 -
1-6528150-T-C PLEKHG5 c.2746A>G p.Thr916Ala Missense 20/21 -
1-6528150-T-G PLEKHG5 c.2746A>C p.Thr916Pro Missense 20/21 -
15-41308365-A-C INO80 c.3323T>G p.Val1108Gly Missense 27/36 -
20-62293880-C-T RTEL1 c.449C>T p.Thr150Met Missense 5/35 -
5-79026339-A-C CMYA5 c.1751A>C p.Glu584Ala Missense 2/13 -
19-50491689-C-A VRK3 c.1157G>T p.Gly386Val Missense 12/15 -
11-134062648-C-A NCAPD3 c.1981G>T p.Asp661Tyr Missense 16/35 -
19-40582086-A-G ZNF780A c.263T>C p.Val88Ala Missense 6/6 -
2-24260860-G-A WDCP c.1505C>T p.Pro502Leu Missense 2/4 -
9-418173-A-C DOCK8 c.3806A>C p.Asn1269Thr Missense 30/48 -
1-20005587-C-T HTR6 c.1049C>T p.Ser350Leu Missense 3/3 -
4-13603200-T-G BOD1L1 c.5324A>C p.Gln1775Pro Missense 10/26 -
4-13603200-T-A BOD1L1 c.5324A>T p.Gln1775Leu Missense 10/26 -
3-52548787-C-T STAB1 c.3749C>T p.Ser1250Leu Missense 35/69 -
19-41515255-C-T CYP2B6 c.777C>T p.Ser259Ser Synonymous 5/9 -
8-42167039-G-A IKBKB c.686+496G>A - IntronicSNV - 7/20
12-18891703-C-T CAPZA3 c.501C>T p.Asn167Asn Synonymous 1/1 -
5-79024949-G-A CMYA5 c.361G>A p.Val121Ile Missense 2/13 -
2-239040065-G-A ESPNL c.2710G>A p.Val904Met Missense 9/9 -
9-35295780-C-G UNC13B c.614C>G p.Thr205Arg Missense 8/39 -
15-62261612-T-C VPS13C c.2668A>G p.Thr890Ala Missense 26/83 -
20-30729619-G-A TM9SF4 c.449G>A p.Arg150Gln Missense 5/18 -
3-48638472-T-C UQCRC1 c.902A>G p.Asn301Ser Missense 8/13 -
7-47436435-C-G TNS3 c.986G>C p.Arg329Pro Missense 16/31 -
20-60886089-G-A LAMA5 c.10150C>T p.Arg3384Cys Missense 74/80 -
7-47436435-C-T TNS3 c.986G>A p.Arg329His Missense 16/31 -
7-47436435-C-A TNS3 c.986G>T p.Arg329Leu Missense 16/31 -
17-7579524-GTGAACCATTGTTC-G TP53 c.151_163del13 p.Glu51Leufs*68 Frameshift 4/11 -
2-179479607-G-T TTN c.41023C>A p.Pro13675Thr Missense 209/312 -
2-179479607-G-A TTN c.41023C>T p.Pro13675Ser Missense 209/312 -
2-179479607-G-C TTN c.41023C>G p.Pro13675Ala Missense 209/312 -
5-160047528-C-A ATP10B c.2242G>T p.Val748Leu Missense 15/26 -
19-35758620-G-A LSR c.1840G>A p.Glu614Lys Missense 8/9 -
X-1554587-C-T ASMTL c.338G>A p.Arg113Gln Missense 4/13 -
19-36036001-T-C GAPDHS c.1156T>C p.Tyr386His Missense 11/11 -
15-52186062-C-G TMOD3 c.547C>G p.Pro183Ala Missense 6/10 -
3-39425226-A-G SLC25A38 c.11A>G p.Asn4Ser Missense 1/7 -
7-23016406-C-T FAM126A c.436G>A p.Ala146Thr Missense 6/11 -
17-11840819-G-T DNAH9 c.12640G>T p.Gly4214Cys Missense 66/69 -
17-48458188-G-A EME1 c.1601G>A p.Arg534His Missense 9/9 -
17-48458188-G-C EME1 c.1601G>C p.Arg534Pro Missense 9/9 -
4-77230712-G-T FAM47E-STBD1 c.*386G>T - 3-UTRSNV 7/7 -
4-89318021-T-G HERC6 c.906T>G p.Tyr302* Nonsense 7/22 -
19-50918229-G-A POLD1 c.2546G>A p.Arg849His Missense 20/27 -
18-50832036-G-A DCC c.2000G>A p.Arg667His Missense 13/29 -
1-94476377-C-T ABCA4 c.5693G>A p.Arg1898His Missense 40/50 -
13-32907480-C-T BRCA2 c.1865C>T p.Ala622Val Missense 10/27 -
17-8021612-C-A ALOXE3 c.93G>T p.Gln31His Missense 2/16 -
19-11363634-C-T DOCK6 c.133G>A p.Val45Ile Missense 3/48 -
13-32913207-C-T BRCA2 c.4715C>T p.Ala1572Val Missense 11/27 -
17-11840819-G-C DNAH9 c.12640G>C p.Gly4214Arg Missense 66/69 -
X-140993885-C-T MAGEC1 c.695C>T p.Pro232Leu Missense 4/4 -
4-77230712-G-C FAM47E-STBD1 c.*386G>C - 3-UTRSNV 7/7 -
1-26608831-C-A UBXN11 c.1423G>T p.Gly475Cys Missense 15/15 -
1-26608831-C-T UBXN11 c.1423G>A p.Gly475Ser Missense 15/15 -
1-85736519-G-T BCL10 c.128C>A p.Ala43Glu Missense 2/3 -
4-89318021-T-A HERC6 c.906T>A p.Tyr302* Nonsense 7/22 -
16-71103393-G-A HYDIN c.1832C>T p.Thr611Ile Missense 14/19 -
2-179600475-C-G TTN c.10966G>C p.Ala3656Pro Missense 47/312 -
10-95085594-T-C MYOF c.5260A>G p.Asn1754Asp Missense 46/54 -
18-2694682-G-A SMCHD1 c.1031G>A p.Arg344Gln Missense 8/48 -
4-8613762-G-T CPZ c.1203G>T p.Lys401Asn Missense 7/10 -
4-8613762-G-A CPZ c.1203G>A p.Lys401Lys Synonymous 7/10 -
7-99696247-C-T MCM7 c.146G>A p.Arg49Gln Missense 5/14 -
19-42342173-A-G LYPD4 c.374T>C p.Val125Ala Missense 4/5 -
9-35295780-C-T UNC13B c.614C>T p.Thr205Ile Missense 8/39 -
12-117289603-A-G RNFT2 c.1201-852A>G - IntronicSNV - 10/10
1-110882077-G-C RBM15 c.50G>C p.Arg17Pro Missense 1/3 -
1-22846721-G-T ZBTB40 c.3001G>T p.Val1001Phe Missense 14/18 -
1-160123000-G-A ATP1A4 c.193G>A p.Val65Met Missense 2/22 -
17-45234331-T-G CDC27 c.790A>C p.Thr264Pro Missense 7/19 -
11-93494810-C-T C11orf54 c.754C>T p.Arg252Cys Missense 8/8 -
5-149449827-C-T CSF1R c.1237G>A p.Gly413Ser Missense 9/22 -
19-42814791-G-A PRR19 c.970G>A p.Asp324Asn Missense 3/3 -
12-18892040-A-C CAPZA3 c.838A>C p.Met280Leu Missense 1/1 -
7-100684773-C-A MUC17 c.10076C>A p.Thr3359Asn Missense 3/13 -
12-2788668-C-T CACNA1C c.5150C>T p.Ala1717Val Missense 42/47 -
6-111621304-T-A REV3L c.9308A>T p.Asn3103Ile Missense 33/33 -
12-2788668-C-G CACNA1C c.5150C>G p.Ala1717Gly Missense 42/47 -
20-47558417-C-T ARFGEF2 c.169C>T p.Pro57Ser Missense 3/39 -
9-124081138-G-C GSN c.1324G>C p.Asp442His Missense 9/17 -
10-74594137-C-G MCU c.171C>G p.Ser57Ser Synonymous 2/8 -
1-90179936-C-T LRRC8C c.1807C>T p.Arg603Cys Missense 3/3 -
11-43465025-G-A TTC17 c.2402G>A p.Arg801His Missense 17/24 -
4-72363294-A-T SLC4A4 c.1919A>T p.Asn640Ile Missense 13/23 -
1-248637549-A-G OR2T3 c.898A>G p.Lys300Glu Missense 1/1 -
11-57296313-G-T TIMM10 c.150C>A p.Cys50* Nonsense 3/3 -
5-82789493-G-A VCAN c.574G>A p.Gly192Arg Missense 4/15 -
8-8235510-G-C PRAG1 c.409C>G p.Arg137Gly Missense 3/6 -
16-2168022-C-T PKD1 c.971G>A p.Arg324His Missense 5/46 -
4-126373018-C-T FAT4 c.10847C>T p.Thr3616Met Missense 9/17 -
3-121388135-C-T GOLGB1 c.9230G>A p.Arg3077His Missense 18/22 -
19-14000196-G-A C19orf57 c.1473C>T p.Asp491Asp Synonymous 6/8 -
20-1286015-G-A SNPH c.802G>A p.Val268Met Missense 6/6 -
20-1286015-G-T SNPH c.802G>T p.Val268Leu Missense 6/6 -
10-74594137-C-T MCU c.171C>T p.Ser57Ser Synonymous 2/8 -
10-95093661-G-T MYOF c.4573C>A p.Arg1525Arg Synonymous 42/54 -
17-7579438-CCGCC-C TP53 c.247_250delGCGG p.Ala83Profs*39 Frameshift 4/11 -
3-51673633-G-T RAD54L2 c.2059G>T p.Val687Phe Missense 13/23 -
14-50122494-G-T POLE2 c.823C>A p.Leu275Ile Missense 11/19 -
17-74868887-C-T MGAT5B c.69-46C>T - IntronicSNV - 1/16
16-2168022-C-A PKD1 c.971G>T p.Arg324Leu Missense 5/46 -
13-32911394-G-C BRCA2 c.2902G>C p.Gly968Arg Missense 11/27 -
17-80042508-G-A FASN c.4649C>T p.Ser1550Leu Missense 27/43 -
1-153658297-G-T NPR1 c.1621G>T p.Gly541Cys Missense 9/22 -
17-39506824-G-A KRT33A c.196C>T p.Arg66Cys Missense 1/7 -
2-240913012-G-A NDUFA10 c.1000-12409C>T - IntronicSNV - 9/9
12-56092638-G-T ITGA7 c.854C>A p.Ala285Asp Missense 6/25 -
17-37866434-C-A ERBB2 c.739C>A p.Pro247Thr Missense 6/27 -
7-156752665-G-A NOM1 c.1429G>A p.Val477Met Missense 4/11 -
19-39905650-T-C PLEKHG2 c.128T>C p.Met43Thr Missense 3/19 -
1-204950996-G-A NFASC c.2318G>A p.Arg773Gln Missense 21/30 -
8-39646261-T-A ADAM2 c.571-2A>T - IntronicSNV - 7/20
11-94322358-G-T PIWIL4 c.986G>T p.Arg329Leu Missense 8/20 -
11-62296152-G-A AHNAK c.342+6323C>T - IntronicSNV - 4/5
19-9068115-G-T MUC16 c.19331C>A p.Thr6444Asn Missense 3/84 -
7-99817878-C-T PVRIG c.260C>T p.Thr87Met Missense 3/6 -
17-7579512-C-G TP53 c.175G>C p.Gly59Arg Missense 4/11 -
10-104359297-G-C SUFU c.1018G>C p.Ala340Pro Missense 8/12 -
17-37864640-AGG-TGT ERBB2 c.292_294delAGGinsTGT p.Arg98Cys Missense 3/27 -
7-99627504-C-G ZKSCAN1 c.601C>G p.Pro201Ala Missense 4/6 -
19-9068115-G-A MUC16 c.19331C>T p.Thr6444Ile Missense 3/84 -
17-33324768-A-T LIG3 c.1835A>T p.Glu612Val Missense 12/20 -
12-124323006-A-G DNAH10 c.4552A>G p.Met1518Val Missense 28/78 -
12-974498-C-T WNK1 c.2139+3062C>T - IntronicSNV - 8/27
20-34092583-A-G CEP250 c.6386A>G p.His2129Arg Missense 30/35 -
3-48627789-C-A COL7A1 c.1907G>T p.Gly636Val Missense 15/118 -
14-94849061-C-T SERPINA1 c.514G>A p.Gly172Arg Missense 2/5 -
2-179441932-G-A TTN c.61426C>T p.Pro20476Ser Missense 273/312 -
13-32910540-C-G BRCA2 c.2048C>G p.Ser683Cys Missense 11/27 -
17-37864748-C-A ERBB2 c.400C>A p.Pro134Thr Missense 3/27 -
7-127224437-C-T GCC1 c.800G>A p.Arg267Lys Missense 1/2 -
12-53453014-G-A TNS2 c.1589G>A p.Arg530Gln Missense 18/29 -
5-131923710-G-A RAD50 c.980G>A p.Arg327His Missense 7/25 -
15-41337221-G-A INO80 c.2788C>T p.Arg930Cys Missense 24/36 -
2-136362513-T-C R3HDM1 c.98T>C p.Ile33Thr Missense 3/26 -
9-117103859-C-A AKNA c.4021G>T p.Ala1341Ser Missense 21/22 -
17-7577111-G-A TP53 c.827C>T p.Ala276Val Missense 8/11 -
12-58350618-C-T ATP23 c.686C>T p.Ala229Val Missense 6/6 -
X-55039960-G-A ALAS2 c.1559C>T p.Pro520Leu Missense 10/11 -
X-78010499-G-A LPAR4 c.133G>A p.Val45Ile Missense 2/2 -
8-23167422-C-T LOXL2 c.1639G>A p.Ala547Thr Missense 10/14 -
13-32907395-A-G BRCA2 c.1780A>G p.Ile594Val Missense 10/27 -
17-74073386-C-A GALR2 c.1038C>A p.Ser346Arg Missense 2/2 -
17-74073386-C-G GALR2 c.1038C>G p.Ser346Arg Missense 2/2 -
3-98001858-A-C OR5H2 c.127A>C p.Thr43Pro Missense 1/1 -
10-50824106-C-A CHAT c.287-442C>A - IntronicSNV - 1/14
17-7577119-AC-AA TP53 c.818_819delGTinsAA p.Arg273Gln Missense 8/11 -
17-37868267-CGG-TGT ERBB2 c.988_990delCGGinsTGT p.Arg330Cys Missense 8/27 -
10-50824106-C-T CHAT c.287-442C>T - IntronicSNV - 1/14
12-113596869-C-T CFAP73 c.*375C>T - 3_prime_UTR_variant 8/8 -
12-113596869-C-A CFAP73 c.*375C>A - 3_prime_UTR_variant 8/8 -
17-72851039-G-A GRIN2C c.193C>T p.Leu65Phe Missense 2/13 -
16-70298927-G-A AARS c.1426C>T p.Arg476Trp Missense 11/21 -
17-3101168-C-T OR1A2 c.356C>T p.Ala119Val Missense 1/1 -
X-16142093-G-C GRPR c.17G>C p.Cys6Ser Missense 1/3 -
19-1122220-A-G SBNO2 c.1067T>C p.Ile356Thr Missense 11/32 -
19-1122220-A-T SBNO2 c.1067T>A p.Ile356Asn Missense 11/32 -
10-13264107-G-C UCMA c.413C>G p.Thr138Ser Missense 5/5 -
2-75914985-A-T GCFC2 c.1658T>A p.Ile553Asn Missense 11/17 -
1-55559716-C-T USP24 c.6248G>A p.Arg2083Gln Missense 52/68 -
16-1306923-C-A TPSD1 c.380C>A p.Ala127Glu Missense 3/5 -
5-159686752-C-T CCNJL c.451G>A p.Val151Ile Missense 5/7 -
13-32910413-TC-CT BRCA2 c.1921_1922delTCinsCT p.Ser641Leu Missense 11/27 -
3-48506279-G-A ATRIP c.2105G>A p.Arg702Gln Missense 12/13 -
13-39621897-T-C NHLRC3 c.878T>C p.Ile293Thr Missense 7/7 -
22-36691696-A-G MYH9 c.3340T>C p.Ser1114Pro Missense 26/41 -
17-37865645-A-G ERBB2 c.514A>G p.Ile172Val Missense 4/27 -
18-2747533-T-C SMCHD1 c.3815T>C p.Ile1272Thr Missense 30/48 -
2-152346522-G-A NEB c.19799C>T p.Thr6600Met Missense 149/150 -
18-34320679-G-A FHOD3 c.3112G>A p.Ala1038Thr Missense 18/25 -
17-5266268-A-G RABEP1 c.1625A>G p.Gln542Arg Missense 10/18 -
5-90016771-G-A ADGRV1 c.9643G>A p.Glu3215Lys Missense 45/90 -
7-44148557-G-T AEBP1 c.1000G>T p.Glu334* Nonsense 7/21 -
12-124907067-C-T NCOR2 c.1363G>A p.Ala455Thr Missense 14/49 -
11-124740144-G-A ROBO3 c.850G>A p.Asp284Asn Missense 5/28 -
1-212799882-A-T FAM71A c.1663A>T p.Lys555* Nonsense 1/1 -
1-152281724-G-A FLG c.5638C>T p.His1880Tyr Missense 3/3 -
7-6013060-G-C PMS2 c.2559C>G p.Ile853Met Missense 15/15 -
7-6013060-G-A PMS2 c.2559C>T p.Ile853Ile Synonymous 15/15 -
4-153896053-G-A FHDC1 c.1610G>A p.Arg537His Missense 11/11 -
4-36189112-T-C ARAP2 c.1639A>G p.Thr547Ala Missense 8/33 -
19-10335552-G-T S1PR2 c.30C>A p.Asn10Lys Missense 2/2 -
3-126227314-G-A UROC1 c.356C>T p.Pro119Leu Missense 4/20 -
1-158621237-G-A SPTA1 c.3397C>T p.Arg1133Trp Missense 24/52 -
13-32367033-C-G RXFP2 c.1594C>G p.Arg532Gly Missense 16/18 -
X-140994997-G-A MAGEC1 c.1807G>A p.Glu603Lys Missense 4/4 -
X-140994997-G-C MAGEC1 c.1807G>C p.Glu603Gln Missense 4/4 -
3-126227314-G-C UROC1 c.356C>G p.Pro119Arg Missense 4/20 -
7-156755781-G-A NOM1 c.1823G>A p.Arg608His Missense 6/11 -
1-169438042-T-G SLC19A2 c.1063A>C p.Lys355Gln Missense 4/6 -
3-151171231-T-C IGSF10 c.656A>G p.Asn219Ser Missense 3/6 -
18-28612233-G-T DSC3 c.79C>A p.Arg27Ser Missense 2/16 -
4-48683105-G-A FRYL c.-81+3585C>T - intron_variant - 3/63
5-131931472-G-T RAD50 c.2177G>T p.Arg726Leu Missense 13/25 -
15-62219337-G-A VPS13C c.6340C>T p.Leu2114Phe Missense 50/83 -
1-226570748-G-A PARP1 c.1148C>T p.Ser383Phe Missense 8/23 -
13-23914588-G-T SACS c.3427C>A p.Gln1143Lys Missense 10/10 -
13-23914588-G-C SACS c.3427C>G p.Gln1143Glu Missense 10/10 -
13-23914588-G-A SACS c.3427C>T p.Gln1143* Nonsense 10/10 -
15-48451979-C-T MYEF2 c.548G>A p.Arg183His Missense 6/17 -
16-1388672-C-T BAIAP3 c.122C>T p.Thr41Met Missense 2/33 -
20-43836960-A-G SEMG1 c.1022A>G p.Gln341Arg Missense 2/3 -
1-226570748-G-T PARP1 c.1148C>A p.Ser383Tyr Missense 8/23 -
12-30877343-T-C CAPRIN2 c.1948A>G p.Thr650Ala Missense 10/17 -
11-62600554-G-C WDR74 c.1028C>G p.Thr343Arg Missense 12/12 -
11-62600554-G-A WDR74 c.1028C>T p.Thr343Ile Missense 12/12 -
1-155013020-G-A DCST1 c.451G>A p.Val151Met Missense 6/17 -
4-114294537-G-A ANK2 c.11791G>A p.Glu3931Lys Missense 45/46 -
5-74046462-C-T GFM2 c.461G>A p.Arg154Gln Missense 7/21 -
2-203972703-C-T NBEAL1 c.1654C>T p.Arg552* Nonsense 13/55 -
11-118133248-T-A MPZL2 c.341A>T p.Gln114Leu Missense 3/6 -
13-32890616-G-A BRCA2 c.19G>A p.Glu7Lys Missense 2/27 -
3-47908815-G-A MAP4 c.2987C>T p.Ser996Phe Missense 15/19 -
1-10529326-A-G DFFA c.206T>C p.Ile69Thr Missense 2/6 -
17-37868252-G-A ERBB2 c.973G>A p.Glu325Lys Missense 8/27 -
1-36211107-C-A CLSPN c.2911G>T p.Gly971Cys Missense 16/25 -
12-117977550-C-T KSR2 c.1661G>A - missense_variant 10/20 -
5-55250787-G-C IL6ST c.1301C>G p.Pro434Arg Missense 11/17 -
8-95404072-A-C RAD54B c.1574T>G p.Leu525Arg Missense 10/15 -
19-39016135-A-T RYR1 c.10619A>T p.Tyr3540Phe Missense 71/106 -
15-55663993-T-C CCPG1 c.704A>G p.Tyr235Cys Missense 6/8 -
15-55663993-T-A CCPG1 c.704A>T p.Tyr235Phe Missense 6/8 -
15-55663993-T-G CCPG1 c.704A>C p.Tyr235Ser Missense 6/8 -
17-7577120-C-A TP53 c.818G>T p.Arg273Leu Missense 8/11 -
11-118849720-C-G FOXR1 c.190C>G p.Pro64Ala Missense 3/6 -
19-55250976-T-G KIR2DL3 c.58T>G p.Trp20Gly Missense 2/8 -
8-6389998-T-G ANGPT2 c.299A>C p.Tyr100Ser Missense 2/9 -
20-9424868-C-A PLCB4 c.2822C>A p.Ser941Tyr Missense 28/36 -
17-46700458-C-T HOXB9 c.557G>A p.Arg186Gln Missense 2/2 -
1-14142973-C-G PRDM2 c.5088C>G p.Ile1696Met Missense 9/10 -
4-42551048-T-C ATP8A1 c.1634A>G p.Asn545Ser Missense 19/37 -
9-131267089-C-T GLE1 c.5C>T p.Pro2Leu Missense 1/16 -
19-49339590-G-A HSD17B14 c.79C>T p.Arg27Cys Missense 1/9 -
18-7049171-C-T LAMA1 c.674G>A p.Arg225His Missense 5/63 -
17-37864626-A-T ERBB2 c.278A>T p.Gln93Leu Missense 3/27 -
10-126683111-C-T CTBP2 c.707G>A p.Ser236Asn Missense 7/11 -
2-128390856-C-T MYO7B c.5351C>T p.Pro1784Leu Missense 39/47 -
2-128390856-C-A MYO7B c.5351C>A p.Pro1784Gln Missense 39/47 -
17-5042763-G-A USP6 c.1292G>A p.Gly431Asp Missense 14/30 -
18-18533600-T-C ROCK1 c.4000A>G p.Thr1334Ala Missense 32/33 -
6-32032790-G-T TNXB c.6649C>A p.Pro2217Thr Missense 19/44 -
17-7577138-CG-AA TP53 c.799_800delCGinsAA p.Arg267Lys Missense 8/11 -
17-5042763-G-T USP6 c.1292G>T p.Gly431Val Missense 14/30 -
2-186666113-G-A FSIP2 c.12080G>A - missense_variant 17/23 -
11-1028379-C-T MUC6 c.1600G>A p.Gly534Ser Missense 14/33 -
1-41618297-G-A SCMH1 c.50C>T p.Pro17Leu Missense 4/16 -
8-105235958-G-A RIMS2 c.3335-21186G>A - IntronicSNV - 19/23
17-7579536-TC-T TP53 c.151delG p.Glu51Asnfs*72 Frameshift 4/11 -
3-184612670-C-T VPS8 c.1955C>T p.Ala652Val Missense 22/47 -
3-186330934-A-G AHSG c.4A>G p.Lys2Glu Missense 1/7 -
1-6534643-C-A PLEKHG5 c.307G>T p.Val103Leu Missense 6/21 -
1-6534643-C-T PLEKHG5 c.307G>A p.Val103Met Missense 6/21 -
17-37871567-C-A ERBB2 c.1177C>A p.Gln393Lys Missense 10/27 -
10-126681789-T-G CTBP2 c.1021A>C p.Ile341Leu Missense 9/11 -
10-61028353-C-T FAM13C c.902G>A p.Arg301Gln Missense 8/12 -
10-61028353-C-A FAM13C c.902G>T p.Arg301Leu Missense 8/12 -
11-57296313-G-A TIMM10 c.150C>T p.Cys50Cys Synonymous 3/3 -
3-193185248-G-A ATP13A4 c.971C>T p.Pro324Leu Missense 10/30 -
20-60892518-C-G LAMA5 c.7394G>C p.Arg2465Pro Missense 55/80 -
19-22154829-A-T ZNF208 c.3007T>A p.Cys1003Ser Missense 4/4 -
19-22154829-A-C ZNF208 c.3007T>G p.Cys1003Gly Missense 4/4 -
19-22154829-A-G ZNF208 c.3007T>C p.Cys1003Arg Missense 4/4 -
3-50005373-C-T RBM6 c.515C>T p.Pro172Leu Missense 3/21 -
17-7578408-CCT-CAT TP53 c.520_522delAGGinsCAT p.Arg174His Missense 5/11 -
2-68613814-A-C PLEK c.653A>C p.Tyr218Ser Missense 5/9 -
4-155254540-G-C DCHS2 c.2820C>G p.His940Gln Missense 5/8 -
4-157891943-T-C PDGFC c.113A>G p.Gln38Arg Missense 1/6 -
6-158487551-T-C SYNJ2 c.1601T>C p.Met534Thr Missense 12/27 -
6-158487551-T-A SYNJ2 c.1601T>A p.Met534Lys Missense 12/27 -
12-11285924-C-T TAS2R30 c.920G>A p.Arg307His Missense 1/1 -
17-45214523-A-C CDC27 c.1926T>G p.Asn642Lys Missense 14/19 -
7-100677873-C-T MUC17 c.3176C>T p.Thr1059Met Missense 3/13 -
2-239165676-A-C PER2 c.1952T>G p.Leu651Arg Missense 17/23 -
17-76492005-C-A DNAH17 c.5855G>T p.Gly1952Val Missense 38/81 -
7-100677873-C-G MUC17 c.3176C>G p.Thr1059Arg Missense 3/13 -
1-44422884-C-T IPO13 c.1289C>T p.Thr430Met Missense 6/20 -
19-12429782-G-C ZNF563 c.1057C>G p.Arg353Gly Missense 4/4 -
20-8737719-G-A PLCB1 c.2550G>A p.Glu850Glu Synonymous 24/32 -
20-8737719-G-T PLCB1 c.2550G>T p.Glu850Asp Missense 24/32 -
17-41955315-G-A MPP2 c.1519C>T p.Arg507Cys Missense 13/13 -
X-49021370-C-T MAGIX c.449C>T p.Pro150Leu Missense 4/6 -
1-47737769-C-T STIL c.2362G>A p.Val788Ile Missense 13/17 -
20-33585405-G-A MYH7B c.3835G>A p.Asp1279Asn Missense 32/45 -
8-8185582-C-T PRAG1 c.2716G>A - missense_variant 5/6 -
8-8185582-C-A PRAG1 c.2716G>T - missense_variant 5/6 -
8-8185582-C-G PRAG1 c.2716G>C - missense_variant 5/6 -
12-52845481-G-A KRT6B c.382C>T p.Pro128Ser Missense 1/9 -
2-120020831-C-A STEAP3 c.1384C>A p.Arg462Arg Synonymous 6/6 -
17-45219283-T-C CDC27 c.1505A>G p.Tyr502Cys Missense 12/19 -
17-3955341-G-A ZZEF1 c.5524C>T p.Arg1842Trp Missense 35/55 -
13-32893264-C-T BRCA2 c.118C>T p.Pro40Ser Missense 3/27 -
3-130293232-T-C COL6A6 c.3410T>C p.Ile1137Thr Missense 7/36 -
1-53569237-G-T SLC1A7 c.478C>A p.Arg160Ser Missense 5/11 -
1-53569237-G-A SLC1A7 c.478C>T p.Arg160Cys Missense 5/11 -
7-73456961-G-A ELN c.250G>A p.Ala84Thr Missense 6/33 -
7-73456961-G-T ELN c.250G>T p.Ala84Ser Missense 6/33 -
1-20639370-G-A VWA5B1 c.181G>A p.Gly61Ser Missense 3/22 -
19-55481394-C-A NLRP2 c.11C>A p.Ser4* Nonsense 2/13 -
1-15893664-C-T DNAJC16 c.1849C>T p.Arg617Cys Missense 14/15 -
22-46688704-C-G TTC38 c.1333C>G p.Arg445Gly Missense 14/14 -
22-46688704-C-T TTC38 c.1333C>T p.Arg445Cys Missense 14/14 -
1-55067043-A-T ACOT11 c.986A>T p.Asp329Val Missense 9/17 -
15-78893644-C-T CHRNA3 c.1340G>A p.Ser447Asn Missense 5/6 -
20-1638293-A-T SIRPG c.68T>A p.Leu23His Missense 1/6 -
9-5765705-G-C RIC1 c.3044G>C p.Ser1015Thr Missense 21/26 -
11-108032167-T-C NPAT c.3646A>G p.Asn1216Asp Missense 17/18 -
17-37884085-G-A ERBB2 c.3556G>A p.Ala1186Thr Missense 27/27 -
2-74759825-G-A HTRA2 c.1195G>A p.Gly399Ser Missense 7/8 -
19-56028918-C-T SSC5D c.3275C>T p.Pro1092Leu Missense 14/14 -
8-140744344-G-A TRAPPC9 c.3451C>T p.Arg1151Cys Missense 22/23 -
14-94849061-C-A SERPINA1 c.514G>T p.Gly172Trp Missense 2/5 -
20-57768655-G-A ZNF831 c.2581G>A p.Asp861Asn Missense 1/5 -
20-57768655-G-C ZNF831 c.2581G>C p.Asp861His Missense 1/5 -
17-30216347-C-T UTP6 c.500G>A p.Arg167His Missense 7/19 -
22-45754606-C-T SMC1B c.2932G>A p.Asp978Asn Missense 19/25 -
2-172926265-A-G METAP1D c.80A>G p.Tyr27Cys Missense 2/10 -
19-1057343-G-A ABCA7 c.4795G>A p.Val1599Met Missense 35/47 -
1-233314839-C-T PCNX2 c.3149G>A p.Arg1050His Missense 16/34 -
1-27875286-T-A AHDC1 c.3341A>T p.Tyr1114Phe Missense 6/7 -
11-831554-CG-CGCG CRACR2B c.878_879dup p.Gly294Argfs*52 Frameshift 8/8 -
17-7577537-CCG-TGT TP53 c.742_744delCGGinsTGT p.Arg248Cys Missense 7/11 -
19-10395141-G-A ICAM1 c.988G>A p.Val330Met Missense 5/7 -
17-47246239-G-A B4GALNT2 c.1472G>A p.Arg491His Missense 10/11 -
13-32913528-CT-TG BRCA2 c.5036_5037delCTinsTG p.Thr1679Met Missense 11/27 -
18-74701943-T-C MBP c.329A>G p.Glu110Gly Missense 3/7 -
11-1263137-C-T MUC5B c.5027C>T p.Thr1676Met Missense 31/49 -
12-53696859-C-T C12orf10 c.371C>T p.Pro124Leu Missense 3/7 -
4-106157698-T-C TET2 c.2599T>C p.Tyr867His Missense 3/3 -
19-49119368-G-A RPL18 c.389C>T p.Ser130Phe Missense 5/7 -
11-101832689-A-G CEP126 c.923A>G p.His308Arg Missense 6/11 -
11-101832689-A-T CEP126 c.923A>T p.His308Leu Missense 6/11 -
15-90992792-G-T IQGAP1 c.1079G>T p.Ser360Ile Missense 11/38 -
1-41976300-G-A HIVEP3 c.7043C>T p.Pro2348Leu Missense 9/9 -
12-6562262-G-A TAPBPL c.94G>A p.Ala32Thr Missense 2/7 -
7-44150626-C-T AEBP1 c.1600C>T p.Arg534Cys Missense 13/21 -
1-152759989-G-A LCE1E c.214G>A p.Gly72Arg Missense 2/2 -
19-40366142-C-T FCGBP c.14092G>A p.Ala4698Thr Missense 30/36 -
7-47342713-G-A TNS3 c.3292C>T p.Leu1098Phe Missense 22/31 -
19-42880839-G-C MEGF8 c.8249G>C p.Gly2750Ala Missense 41/41 -
9-134308115-A-G PRRC2B c.227A>G p.Asn76Ser Missense 2/31 -
22-38610661-G-A MAFF c.271G>A p.Asp91Asn Missense 3/3 -