PMID: 31515488

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature communications
R Fragoza, J Das, SD Wierbowski, J Liang, TN Tran, S Liang, JF Beltran, CA Rivera-Erick, K Ye, TY Wang, L Yao, M Mort, PD Stenson, DN Cooper, X Wei, A Keinan, JC Schimenti, AG Clark, H Yu
2019-09-12

2088 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116633862-G-A BUD13 c.443C>T p.Pro148Leu Missense 4/10 -
6-36652125-C-T CDKN1A c.247C>T p.Arg83Trp Missense 3/4 -
1-169345868-A-G BLZF1 c.119A>G p.Gln40Arg Missense 3/8 -
17-8644901-C-T CCDC42 c.383G>A p.Arg128His Missense 4/7 -
11-61732941-T-C FTH1 c.161A>G p.Lys54Arg Missense 2/4 -
7-148514393-A-G EZH2 c.1331T>C p.Met444Thr Missense 11/20 -
17-7579548-G-T TP53 c.139C>A p.Pro47Thr Missense 4/11 -
17-7579548-G-A TP53 c.139C>T p.Pro47Ser Missense 4/11 -
3-59999794-T-C FHIT c.188A>G p.Gln63Arg Missense 6/10 -
13-21735998-T-C SKA3 c.760A>G p.Thr254Ala Missense 5/9 -
19-58850178-C-T ZSCAN22 c.962C>T p.Ala321Val Missense 3/3 -
2-3625325-G-A RPS7 c.317G>A p.Arg106Gln Missense 5/7 -
11-103907956-G-A DDI1 c.406G>A p.Gly136Ser Missense 1/1 -
9-35076755-G-A FANCG c.890C>T p.Thr297Ile Missense 7/14 -
16-3339435-G-C ZNF263 c.929G>C p.Cys310Ser Missense 6/6 -
6-139564138-A-G TXLNB c.1580T>C p.Ile527Thr Missense 10/10 -
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
19-10677811-G-A CDKN2D c.424C>T p.Pro142Ser Missense 3/3 -
10-103294635-A-G BTRC c.1315A>G p.Ile439Val Missense 10/15 -
1-24124207-C-T GALE c.506G>A p.Arg169Gln Missense 6/12 -
17-71282336-T-C CDC42EP4 c.304A>G p.Met102Val Missense 2/2 -
9-110068787-C-A RAD23B c.356C>A p.Pro119His Missense 4/10 -
9-110068787-C-G RAD23B c.356C>G p.Pro119Arg Missense 4/10 -
X-48207029-C-G SSX3 c.477G>C p.Arg159Ser Missense 7/8 -
18-2575049-T-C NDC80 c.163T>C p.Ser55Pro Missense 3/17 -
22-26890200-G-A TFIP11 c.2063C>T p.Ser688Leu Missense 15/16 -
1-236914923-A-G ACTN2 c.1810A>G p.Met604Val Missense 15/21 -
17-39521726-T-C KRT33B c.668A>G p.Gln223Arg Missense 4/7 -
10-98708945-C-T LCOR c.131C>T p.Thr44Met Missense 6/8 -
9-139820270-G-A TRAF2 c.1423G>A p.Val475Ile Missense 11/11 -
11-112104210-G-T PTS c.370G>T p.Val124Leu Missense 6/6 -
15-74948095-C-G EDC3 c.799G>C p.Val267Leu Missense 4/7 -
2-88828978-C-T TEX37 c.529C>T p.Pro177Ser Missense 4/4 -
19-41903199-C-T EXOSC5 c.35G>A p.Arg12His Missense 1/6 -
17-39140272-A-G KRT40 c.254T>C p.Phe85Ser Missense 3/9 -
16-30664261-G-A PRR14 c.341G>A p.Arg114His Missense 5/12 -
16-30664261-G-T PRR14 c.341G>T p.Arg114Leu Missense 5/12 -
15-57484486-C-T TCF12 c.521C>T p.Ala174Val Missense 7/20 -
17-39137104-A-G KRT40 c.908T>C p.Met303Thr Missense 7/9 -
17-79650828-T-C ARL16 c.28A>G p.Ser10Gly Missense 1/5 -
17-79650828-T-G ARL16 c.28A>C p.Ser10Arg Missense 1/5 -
4-110610545-C-A CASP6 c.823G>T p.Val275Phe Missense 7/7 -
6-42930538-G-A GNMT c.373G>A p.Val125Met Missense 3/6 -
10-95276718-T-C CEP55 c.706T>C p.Cys236Arg Missense 6/9 -
11-118842663-G-A FOXR1 c.22G>A p.Ala8Thr Missense 1/6 -
11-5248232-T-C HBB c.20A>G p.Glu7Gly Missense 1/3 -
1-155295681-C-T RUSC1 c.1841C>T p.Ser614Phe Missense 7/10 -
20-62595547-C-T ZNF512B c.1357G>A p.Ala453Thr Missense 8/17 -
7-56084934-GTA-AAG PSPH c.412_414delTACinsAAG p.Tyr138Lys Missense 6/8 -
1-180243524-A-G LHX4 c.983A>G p.Asn328Ser Missense 6/6 -
17-7578184-G-A TP53 c.665C>T p.Pro222Leu Missense 6/11 -
17-39156027-G-A KRTAP3-2 c.79C>T p.Arg27Cys Missense 1/1 -
19-48789566-G-C ZNF114 c.685G>C p.Ala229Pro Missense 6/6 -
X-48207029-C-T SSX3 c.477G>A p.Arg159Arg Synonymous 7/8 -
1-203053787-C-T MYOG c.541G>A p.Ala181Thr Missense 2/3 -
12-56602037-C-G RNF41 c.408G>C p.Lys136Asn Missense 5/7 -
3-52022996-C-T ACY1 c.1132C>T p.Arg378Trp Missense 15/15 -
6-31130292-C-G TCF19 c.836C>G p.Ala279Gly Missense 4/4 -
6-31130292-C-T TCF19 c.836C>T p.Ala279Val Missense 4/4 -
17-37948995-T-C IKZF3 c.355A>G p.Asn119Asp Missense 4/8 -
19-10678035-G-A CDKN2D c.200C>T p.Pro67Leu Missense 3/3 -
18-53128285-T-C TCF4 c.269A>G p.Asn90Ser Missense 5/20 -
11-70052416-A-G FADD c.464A>G p.Asn155Ser Missense 2/2 -
21-46101993-C-T TSPEAR c.82+29355G>A - IntronicSNV - 1/11
21-46101993-C-G TSPEAR c.82+29355G>C - IntronicSNV - 1/11
17-79987456-G-A LRRC45 c.1439G>A p.Arg480His Missense 14/17 -
12-53227788-C-T KRT79 c.257G>A p.Gly86Glu Missense 1/9 -
20-1293040-C-T SDCBP2 c.673G>A p.Gly225Arg Missense 7/9 -
1-60338597-G-A HOOK1 c.2147G>A p.Arg716Lys Missense 22/22 -
6-37250068-C-T TBC1D22B c.529C>T p.Pro177Ser Missense 4/13 -
X-55651001-T-C FOXR2 c.857T>C p.Val286Ala Missense 1/1 -
6-36652078-G-A CDKN1A c.200G>A p.Arg67His Missense 3/4 -
10-95275259-C-T CEP55 c.626C>T p.Thr209Met Missense 5/9 -
9-97333757-A-G FBP2 c.554T>C p.Phe185Ser Missense 4/7 -
6-36652078-G-T CDKN1A c.200G>T p.Arg67Leu Missense 3/4 -
10-102796855-G-A SFXN3 c.628G>A p.Val210Met Missense 8/12 -
X-38176636-C-A RPGR c.552G>T p.Gln184His Missense 6/19 -
10-94070914-A-G MARCH5 c.58A>G p.Thr20Ala Missense 2/6 -
19-54662043-C-G LENG1 c.289G>C p.Glu97Gln Missense 2/4 -
22-26902371-T-C TFIP11 c.418A>G p.Met140Val Missense 7/16 -
22-39918517-G-A ATF4 c.966G>A p.Glu322Glu Synonymous 2/2 -
9-35662724-G-A ARHGEF39 c.688C>T p.Arg230Cys Missense 7/9 -
16-3085326-C-T BICDL2 c.172G>A p.Glu58Lys Missense 1/9 -
11-5248233-C-G HBB c.19G>C p.Glu7Gln Missense 1/3 -
21-44479397-C-A CBS c.1162G>T p.Asp388Tyr Missense 13/17 -
21-44479397-C-T CBS c.1162G>A p.Asp388Asn Missense 13/17 -
18-580623-T-C CETN1 c.215T>C p.Met72Thr Missense 1/1 -
7-25182405-G-A C7orf31 c.713C>T p.Pro238Leu Missense 8/10 -
3-49313978-C-T C3orf62 c.328G>A p.Glu110Lys Missense 1/3 -
11-6631207-T-G ILK c.1019T>G p.Val340Gly Missense 11/13 -
3-37067306-G-A MLH1 c.1217G>A p.Ser406Asn Missense 12/19 -
13-30805522-C-T KATNAL1 c.814G>A p.Val272Ile Missense 7/11 -
19-18897440-T-C COMP c.1156A>G p.Asn386Asp Missense 11/19 -
10-95276742-G-C CEP55 c.730G>C p.Ala244Pro Missense 6/9 -
9-139815565-G-A TRAF2 c.1036G>A p.Glu346Lys Missense 9/11 -
11-6631386-G-C ILK c.1086G>C p.Gln362His Missense 12/13 -
20-1292989-C-G SDCBP2 c.724G>C p.Gly242Arg Missense 7/9 -
20-1292989-C-T SDCBP2 c.724G>A p.Gly242Arg Missense 7/9 -
2-28004583-T-C RBKS c.868A>G p.Met290Val Missense 8/8 -
2-28004583-T-G RBKS c.868A>C p.Met290Leu Missense 8/8 -
3-183909003-G-A ABCF3 c.1529G>A p.Arg510His Missense 16/21 -
6-24777517-A-C GMNN c.43A>C p.Asn15His Missense 2/7 -
4-56319244-G-A CLOCK c.1183C>T p.Leu395Phe Missense 15/23 -
13-37580280-T-G EXOSC8 c.373T>G p.Cys125Gly Missense 7/11 -
19-34922797-C-T UBA2 c.254C>T p.Pro85Leu Missense 3/17 -
5-137451417-T-C NME5 c.592A>G p.Asn198Asp Missense 6/6 -
2-95537514-C-A TEKT4 c.190C>A p.Arg64Arg Synonymous 1/6 -
5-639213-G-A CEP72 c.1216G>A p.Gly406Arg Missense 8/12 -
6-30128548-C-T TRIM10 c.88G>A p.Asp30Asn Missense 1/7 -
12-44130330-G-A PUS7L c.1579C>T p.Arg527Cys Missense 7/9 -
19-35613689-G-C FXYD3 c.118G>C p.Gly40Arg Missense 7/9 -
14-68123146-C-T VTI1B c.527G>A p.Arg176His Missense 4/6 -
14-68123146-C-A VTI1B c.527G>T p.Arg176Leu Missense 4/6 -
2-9728422-C-T YWHAQ c.454G>A p.Ala152Thr Missense 4/6 -
2-9728422-C-A YWHAQ c.454G>T p.Ala152Ser Missense 4/6 -
2-25468174-T-C DNMT3A c.1502A>G p.Asn501Ser Missense 13/23 -
10-17746996-T-C STAM c.1028T>C p.Ile343Thr Missense 11/14 -
16-30666367-C-T PRR14 c.1076C>T p.Pro359Leu Missense 8/12 -
12-44165080-C-G IRAK4 c.219C>G p.Asp73Glu Missense 4/13 -
12-44165080-C-T IRAK4 c.219C>T p.Asp73Asp Synonymous 4/13 -
17-49238593-C-T NME1 c.301C>T p.Pro101Ser Missense 4/5 -
8-19218766-A-G SH2D4A c.647A>G p.Glu216Gly Missense 6/10 -
14-93650418-C-T MOAP1 c.170G>A p.Arg57Lys Missense 3/3 -
17-17924447-T-C ATPAF2 c.722A>G p.Glu241Gly Missense 7/8 -
20-60878783-C-G ADRM1 c.159C>G p.Asp53Glu Missense 2/9 -
12-53345296-G-C KRT18 c.689G>C p.Ser230Thr Missense 5/8 -
8-117864867-A-C RAD21 c.1242T>G p.Asp414Glu Missense 10/14 -
8-117864867-A-T RAD21 c.1242T>A p.Asp414Glu Missense 10/14 -
1-91989635-A-T CDC7 c.1368A>T p.Gln456His Missense 12/12 -
2-98264524-C-T COX5B c.343C>T p.Arg115Cys Missense 4/4 -
10-21115407-C-T NEBL c.1838G>A p.Arg613Gln Missense 18/28 -
12-52886513-G-A KRT6A c.460C>T p.Pro154Ser Missense 1/9 -
12-52886513-G-C KRT6A c.460C>G p.Pro154Ala Missense 1/9 -
9-116029710-T-A CDC26 c.91A>T p.Lys31* Nonsense 4/4 -
9-116029710-T-C CDC26 c.91A>G p.Lys31Glu Missense 4/4 -
13-21729883-C-T SKA3 c.1187G>A p.Arg396Lys Missense 8/9 -
13-21729883-C-G SKA3 c.1187G>C p.Arg396Thr Missense 8/9 -
13-21729883-C-A SKA3 c.1187G>T p.Arg396Met Missense 8/9 -
9-123605169-C-T PSMD5 c.19G>A p.Ala7Thr Missense 1/10 -
15-57212144-A-G TCF12 c.33A>G p.Ile11Met Missense 2/20 -
5-150436503-G-C TNIP1 c.451C>G p.Pro151Ala Missense 6/18 -
5-150436503-G-A TNIP1 c.451C>T p.Pro151Ser Missense 6/18 -
1-152785074-G-A LCE1B c.152G>A p.Cys51Tyr Missense 1/1 -
1-152785074-G-T LCE1B c.152G>T p.Cys51Phe Missense 1/1 -
19-15794470-G-C CYP4F12 c.815G>C p.Arg272Pro Missense 7/13 -
19-15794470-G-T CYP4F12 c.815G>T p.Arg272Leu Missense 7/13 -
16-69905774-C-T WWP2 c.643C>T p.Arg215Trp Missense 8/25 -
3-160156143-T-C TRIM59 c.829A>G p.Ile277Val Missense 3/3 -
16-4833730-A-T SEPT12 c.550T>A p.Cys184Ser Missense 6/10 -
7-87530185-C-A DBF4 c.916C>A p.Leu306Ile Missense 10/12 -
19-49339623-C-A HSD17B14 c.46G>T p.Gly16Trp Missense 1/9 -
19-373509-G-A THEG c.526C>T p.Arg176Trp Missense 4/8 -
13-52603448-A-C ALG11 c.*722A>C - 3-UTRSNV 4/4 -
X-129058882-T-C UTP14A c.1460T>C p.Val487Ala Missense 12/15 -
17-66039095-C-A KPNA2 c.646C>A p.Pro216Thr Missense 6/11 -
2-70064786-A-G GMCL1 c.368A>G p.Lys123Arg Missense 2/14 -
6-31660879-C-A ABHD16A c.452G>T p.Arg151Leu Missense 5/18 -
6-31660879-C-T ABHD16A c.452G>A p.Arg151His Missense 5/18 -
8-144643548-C-T GSDMD c.691C>T p.Leu231Phe Missense 6/11 -
8-16012615-G-A MSR1 c.856C>T p.Pro286Ser Missense 6/9 -
8-16012615-G-T MSR1 c.856C>A p.Pro286Thr Missense 6/9 -
17-7495219-T-C FXR2 c.1951A>G p.Lys651Glu Missense 17/17 -
7-56084931-AAA-AAG PSPH c.415_417delTTTinsAAG p.Phe139Lys Missense 6/8 -
19-55656925-G-A TNNT1 c.115C>T p.Arg39Cys Missense 6/14 -
1-154938871-C-T SHC1 c.1106G>A p.Arg369Gln Missense 8/12 -
13-28143273-G-A LNX2 c.548C>T p.Thr183Ile Missense 3/10 -
9-34610830-C-T RPP25L c.464G>A p.Arg155Gln Missense 2/2 -
2-158980384-T-C UPP2 c.788T>C p.Met263Thr Missense 6/7 -
17-48941231-A-T TOB1 c.148T>A p.Tyr50Asn Missense 3/3 -
3-49314128-C-T C3orf62 c.178G>A p.Val60Met Missense 1/3 -
10-91162516-G-T IFIT1 c.484G>T p.Ala162Ser Missense 2/2 -
9-97369105-A-T FBP1 c.697T>A p.Phe233Ile Missense 5/7 -
9-97369105-A-G FBP1 c.697T>C p.Phe233Leu Missense 5/7 -
9-97369105-A-C FBP1 c.697T>G p.Phe233Val Missense 5/7 -
19-50409853-C-T IL4I1 c.1-4879G>A - IntronicSNV - 2/9
8-19221784-A-C SH2D4A c.908A>C p.Lys303Thr Missense 7/10 -
12-33031023-G-A PKP2 c.791C>T p.Ala264Val Missense 3/14 -
8-19221784-A-G SH2D4A c.908A>G p.Lys303Arg Missense 7/10 -
7-102098035-G-A ALKBH4 c.715C>T p.Arg239Cys Missense 3/3 -
8-124440235-C-G WDYHV1 c.155C>G p.Ala52Gly Missense 2/6 -
16-4833669-C-T SEPT12 c.611G>A p.Arg204Gln Missense 6/10 -
16-4833669-C-A SEPT12 c.611G>T p.Arg204Leu Missense 6/10 -
19-41903142-A-G EXOSC5 c.92T>C p.Phe31Ser Missense 1/6 -
15-45361173-G-A SORD c.709G>A p.Glu237Lys Missense 7/9 -
19-7547074-A-C PEX11G c.273T>G p.Cys91Trp Missense 3/5 -
9-97372293-G-T FBP1 c.477C>A p.Asn159Lys Missense 4/7 -
9-97372293-G-C FBP1 c.477C>G p.Asn159Lys Missense 4/7 -
18-48573454-A-G SMAD4 c.38A>G p.Asn13Ser Missense 2/12 -
9-18928083-G-A SAXO1 c.1392C>T p.Asn464Asn Synonymous 4/4 -
9-18928083-G-T SAXO1 c.1392C>A p.Asn464Lys Missense 4/4 -
17-49238549-C-A NME1 c.257C>A p.Thr86Lys Missense 4/5 -
6-28056829-A-G ZNF165 c.1039A>G p.Asn347Asp Missense 4/4 -
X-1720422-C-T ASMT c.-68+5997C>T - intron_variant - 1/9
X-102334397-G-A NXF3 c.1225C>T p.Arg409Trp Missense 15/20 -
7-105177041-A-T RINT1 c.118A>T p.Ser40Cys Missense 3/15 -
17-39041052-C-T KRT20 c.386G>A p.Ser129Asn Missense 1/8 -
17-8644901-C-A CCDC42 c.383G>T p.Arg128Leu Missense 4/7 -
1-54477834-C-T LDLRAD1 c.322G>A p.Glu108Lys Missense 4/6 -
17-34431360-C-T CCL4 c.62C>T p.Ala21Val Missense 1/3 -
5-79616936-A-G SPZ1 c.902A>G p.His301Arg Missense 1/1 -
6-52303121-A-G EFHC1 c.305A>G p.Tyr102Cys Missense 3/11 -
14-55609418-G-A LGALS3 c.548G>A p.Arg183Lys Missense 5/6 -
11-59564795-G-A STX3 c.826G>A p.Gly276Ser Missense 10/11 -
11-102220611-T-G BIRC2 c.26T>G p.Leu9Arg Missense 2/9 -
17-73263012-C-T MIF4GD c.580G>A p.Glu194Lys Missense 7/7 -
6-159401898-C-T RSPH3 c.1193G>A p.Arg398Gln Missense 6/8 -
3-184910520-T-C EHHADH c.1378A>G p.Arg460Gly Missense 7/7 -
3-52019935-C-T ACY1 c.332C>T p.Ala111Val Missense 5/15 -
6-31540784-C-A LTA c.179C>A p.Thr60Asn Missense 3/4 -
1-38463367-C-T FHL3 c.677G>A p.Arg226His Missense 5/6 -
16-72120629-G-C TXNL4B c.357C>G p.Ile119Met Missense 4/4 -
6-36652129-G-A CDKN1A c.251G>A p.Arg84Gln Missense 3/4 -
1-15545952-C-T TMEM51 c.475C>T p.Pro159Ser Missense 3/3 -
4-186427735-G-A PDLIM3 c.734C>T p.Thr245Ile Missense 6/8 -
14-54997751-C-T CGRRF1 c.553C>T p.Arg185Trp Missense 4/6 -
4-95496882-C-T PDLIM5 c.292-212C>T - IntronicSNV - 4/12
14-105639582-T-A NUDT14 c.445A>T p.Thr149Ser Missense 5/5 -
11-63994230-G-T NUDT22 c.106G>T p.Gly36Cys Missense 2/6 -
16-71606588-C-A TAT c.412G>T p.Val138Phe Missense 5/12 -
20-9547018-C-G PAK5 c.1004G>C p.Arg335Pro Missense 6/11 -
5-624591-C-T CEP72 c.409C>T p.Arg137Cys Missense 4/12 -
16-71606588-C-T TAT c.412G>A p.Val138Ile Missense 5/12 -
8-144463859-G-A RHPN1 c.1606G>A p.Ala536Thr Missense 13/15 -
8-144463859-G-T RHPN1 c.1606G>T p.Ala536Ser Missense 13/15 -
9-123675628-C-A TRAF1 c.683G>T p.Arg228Leu Missense 5/8 -
12-52881524-T-C KRT6A c.1675A>G p.Arg559Gly Missense 9/9 -
2-70066643-A-G GMCL1 c.439A>G p.Ile147Val Missense 3/14 -
17-46939658-C-A CALCOCO2 c.1165C>A p.Pro389Thr Missense 12/13 -
17-46939658-C-G CALCOCO2 c.1165C>G p.Pro389Ala Missense 12/13 -
22-43523748-C-T BIK c.207C>T p.Asp69Asp Synonymous 3/5 -
22-43523748-C-G BIK c.207C>G p.Asp69Glu Missense 3/5 -
1-60331623-G-A HOOK1 c.1824G>A p.Met608Ile Missense 19/22 -
5-74722269-C-T COL4A3BP c.383G>A p.Arg128His Missense 4/18 -
18-47908542-A-G SKA1 c.257A>G p.His86Arg Missense 4/7 -
18-47908542-A-T SKA1 c.257A>T p.His86Leu Missense 4/7 -
13-103346806-C-G METTL21C c.43G>C p.Gly15Arg Missense 1/4 -
13-103346806-C-A METTL21C c.43G>T p.Gly15Trp Missense 1/4 -
1-15833492-G-A CASP9 c.283C>T p.Arg95Cys Missense 4/9 -
1-165397996-G-A RXRG c.257C>T p.Ala86Val Missense 2/10 -
1-168206005-C-T SFT2D2 c.410C>T p.Thr137Met Missense 6/8 -
1-154938871-C-A SHC1 c.1106G>T p.Arg369Leu Missense 8/12 -
1-168206005-C-G SFT2D2 c.410C>G p.Thr137Arg Missense 6/8 -
2-43015719-T-C HAAO c.109A>G p.Ile37Val Missense 2/10 -
1-91973936-A-G CDC7 c.317A>G p.Gln106Arg Missense 4/12 -
13-103346806-C-T METTL21C c.43G>A p.Gly15Arg Missense 1/4 -
3-33905566-C-T PDCD6IP c.2204C>T p.Ser735Leu Missense 16/18 -
15-74948200-G-T EDC3 c.694C>A p.Arg232Ser Missense 4/7 -
2-27663326-G-A NRBP1 c.1093G>A p.Val365Ile Missense 12/18 -
15-74948200-G-C EDC3 c.694C>G p.Arg232Gly Missense 4/7 -
15-74948200-G-A EDC3 c.694C>T p.Arg232Cys Missense 4/7 -
17-15234518-G-T TEKT3 c.385C>A p.Gln129Lys Missense 3/9 -
12-53700067-G-A C12orf10 c.728G>A p.Arg243Gln Missense 5/7 -
19-17384726-G-A BABAM1 c.358G>A p.Ala120Thr Missense 4/9 -
17-39525750-C-T KRT33B c.253G>A p.Glu85Lys Missense 1/7 -
3-10191563-G-T VHL c.556G>T p.Glu186* Nonsense 3/3 -
12-124427306-T-A CCDC92 c.208A>T p.Ser70Cys Missense 4/5 -
6-52303291-C-T EFHC1 c.475C>T p.Arg159Trp Missense 3/11 -
6-52303291-C-G EFHC1 c.475C>G p.Arg159Gly Missense 3/11 -
15-57554344-T-G TCF12 c.1448T>G p.Leu483Arg Missense 16/20 -
17-72915673-G-C USH1G c.1258C>G p.Leu420Val Missense 2/3 -
17-72915673-G-A USH1G c.1258C>T p.Leu420Leu Synonymous 2/3 -
2-95537622-A-G TEKT4 c.298A>G p.Ser100Gly Missense 1/6 -
12-3042686-G-A TULP3 c.799G>A p.Gly267Ser Missense 7/11 -
12-3042686-G-T TULP3 c.799G>T p.Gly267Cys Missense 7/11 -
14-104026667-T-G BAG5 c.835A>C p.Ile279Leu Missense 2/2 -
X-140271172-A-T LDOC1 c.35T>A p.Leu12His Missense 1/1 -
3-167437888-T-C PDCD10 c.58A>G p.Met20Val Missense 3/9 -
22-43280453-G-A PACSIN2 c.724C>T p.Arg242Cys Missense 6/11 -
10-103310580-G-A BTRC c.1781G>A p.Arg594His Missense 14/15 -
10-103310580-G-C BTRC c.1781G>C p.Arg594Pro Missense 14/15 -
10-103310580-G-T BTRC c.1781G>T p.Arg594Leu Missense 14/15 -
17-73126653-C-T NT5C c.416G>A p.Arg139Gln Missense 4/4 -
15-40557146-G-A BUB1B-PAK6 c.160G>A p.Val54Met Missense 4/11 -
12-10223961-G-A CLEC1A c.814C>T p.Pro272Ser Missense 6/6 -
8-144644666-A-G GSDMD c.1187A>G p.Gln396Arg Missense 10/11 -
9-138456155-C-A PAEP c.376C>A p.Gln126Lys Missense 4/7 -
2-175939488-G-C ATF2 c.1367C>G p.Ser456Trp Missense 14/14 -
17-44249199-T-A KANSL1 c.311A>T p.Lys104Met Missense 2/15 -
17-39658806-C-T KRT13 c.1064G>A p.Arg355His Missense 6/8 -
3-186572089-T-C ADIPOQ c.331T>C p.Tyr111His Missense 3/3 -
17-42426587-C-T GRN c.55C>T p.Arg19Trp Missense 2/13 -
3-184910133-G-T EHHADH c.1765C>A p.Gln589Lys Missense 7/7 -
6-42930887-C-A GNMT c.529C>A p.His177Asn Missense 4/6 -
9-138456155-C-T PAEP c.376C>T p.Gln126* Nonsense 4/7 -
18-52586545-A-G CCDC68 c.746T>C p.Val249Ala Missense 9/12 -
2-171822603-C-T GORASP2 c.1118C>T p.Ser373Phe Missense 10/10 -
12-3043690-C-A TULP3 c.887C>A p.Ala296Glu Missense 8/11 -
22-21991072-T-C CCDC116 c.1555T>C p.Cys519Arg Missense 5/5 -
1-155296892-G-A RUSC1 c.2383G>A p.Ala795Thr Missense 8/10 -
19-41892582-G-A EXOSC5 c.664C>T p.Arg222Cys Missense 6/6 -
6-159398803-C-T RSPH3 c.1450G>A p.Glu484Lys Missense 8/8 -
6-159398803-C-A RSPH3 c.1450G>T p.Glu484* Nonsense 8/8 -
19-33701398-C-T SLC7A10 c.1238G>A p.Arg413Gln Missense 9/11 -
19-33701398-C-G SLC7A10 c.1238G>C p.Arg413Pro Missense 9/11 -
13-48807588-C-G ITM2B c.92C>G p.Pro31Arg Missense 1/6 -
1-169823718-T-A SCYL3 c.1862A>T p.Gln621Leu Missense 13/14 -
1-169823718-T-C SCYL3 c.1862A>G p.Gln621Arg Missense 13/14 -
11-6500093-G-A ARFIP2 c.412C>T p.Arg138Cys Missense 5/8 -
4-37592128-G-A C4orf19 c.451G>A p.Ala151Thr Missense 3/3 -
7-56082857-ATA-AAG PSPH c.427_429delTATinsAAG p.Tyr143Lys Missense 7/8 -
19-34942921-C-T UBA2 c.907C>T p.Pro303Ser Missense 10/17 -
4-4304443-T-C ZBTB49 c.880T>C p.Cys294Arg Missense 3/8 -
1-155294914-T-C RUSC1 c.1478T>C p.Val493Ala Missense 4/10 -
20-57016076-G-A VAPB c.212-3057G>A - IntronicSNV - 2/2
15-41624579-C-G OIP5 c.181G>C p.Ala61Pro Missense 1/5 -
2-95542417-T-C TEKT4 c.1211T>C p.Ile404Thr Missense 6/6 -
6-41903798-C-T CCND3 c.759G>A p.Glu253Glu Synonymous 5/5 -
13-37580090-C-T EXOSC8 c.272C>T p.Ser91Leu Missense 6/11 -
2-158991295-G-A UPP2 c.847G>A p.Asp283Asn Missense 7/7 -
6-41903798-C-G CCND3 c.759G>C p.Glu253Asp Missense 5/5 -
6-41903798-C-A CCND3 c.759G>T p.Glu253Asp Missense 5/5 -
10-81926702-G-C ANXA11 c.688C>G p.Arg230Gly Missense 8/17 -
7-123152019-C-T IQUB c.376G>A p.Val126Met Missense 2/13 -
1-230824279-G-A COG2 c.1765G>A p.Val589Ile Missense 15/18 -
3-37090447-C-T MLH1 c.2042C>T p.Ala681Val Missense 18/19 -
12-53039173-G-C KRT2 c.1550C>G p.Ala517Gly Missense 9/9 -
11-102220814-G-T BIRC2 c.229G>T p.Val77Leu Missense 2/9 -
11-65715021-C-T TSGA10IP c.725C>T p.Ser242Leu Missense 3/8 -
1-230824279-G-C COG2 c.1765G>C p.Val589Leu Missense 15/18 -
7-72755347-C-A FKBP6 c.859C>A p.His287Asn Missense 7/9 -
21-46387009-C-T FAM207A c.413C>T p.Thr138Met Missense 4/6 -
4-4304522-A-C ZBTB49 c.959A>C p.Tyr320Ser Missense 3/8 -
19-33702432-C-T SLC7A10 c.800G>A p.Arg267His Missense 6/11 -
1-16096973-A-G FBLIM1 c.611A>G p.Tyr204Cys Missense 5/6 -
18-44560300-C-T ELOA2 c.1336G>A p.Ala446Thr Missense 1/1 -
7-25182405-G-T C7orf31 c.713C>A p.Pro238Gln Missense 8/10 -
1-246784899-A-G CNST c.548A>G p.Gln183Arg Missense 3/11 -
2-158974403-G-A UPP2 c.407G>A p.Arg136Gln Missense 4/7 -
2-158974403-G-C UPP2 c.407G>C p.Arg136Pro Missense 4/7 -
4-166150008-T-G KLHL2 c.214T>G p.Ser72Ala Missense 3/15 -
18-48584802-A-G SMAD4 c.880A>G p.Met294Val Missense 7/12 -
11-59560904-C-T STX3 c.592C>T p.His198Tyr Missense 8/11 -
16-30393481-T-A SEPT1 c.129A>T p.Lys85Asn Missense 4/12 -
16-30393481-T-G SEPT1 c.255A>C p.Lys85Asn Missense 4/12 -
1-171076966-G-A FMO3 c.472G>A p.Glu158Lys Missense 4/9 -
11-102248377-C-T BIRC2 c.1517C>T p.Ala506Val Missense 7/9 -
13-52439732-G-A CCDC70 c.185G>A - missense_variant 2/2 -
1-15833506-C-T CASP9 c.269G>A p.Arg90His Missense 4/9 -
1-15833506-C-G CASP9 c.269G>C p.Arg90Pro Missense 4/9 -
12-50848116-G-C LARP4 c.1037G>C p.Ser346Thr Missense 10/16 -
16-5140541-G-C EEF2KMT c.368C>G p.Ser123Cys Missense 5/8 -
4-124322817-G-A SPRY1 c.71G>A p.Arg24His Missense 3/3 -
9-131897161-A-C PTPA c.548A>C p.Lys183Thr Missense 7/11 -
19-36530332-G-A THAP8 c.565C>T p.Arg189Trp Missense 3/4 -
21-44273831-C-T WDR4 c.820G>A p.Ala274Thr Missense 9/11 -
19-10677874-C-A CDKN2D c.361G>T p.Ala121Ser Missense 3/3 -
10-48370747-C-T ZNF488 c.215C>T p.Ala72Val Missense 2/2 -
19-41704370-G-A CYP2S1 c.497G>A p.Arg166His Missense 4/9 -
3-49314110-T-G C3orf62 c.196A>C p.Arg66Arg Synonymous 1/3 -
3-49314110-T-C C3orf62 c.196A>G p.Arg66Gly Missense 1/3 -
16-71609894-G-C TAT c.271C>G p.Pro91Ala Missense 3/12 -
19-44571050-T-G ZNF223 c.1069T>G p.Ser357Ala Missense 5/5 -
12-88380094-T-C C12orf50 c.917A>G p.Gln306Arg Missense 10/13 -
1-229438687-G-A RAB4A c.620G>A p.Arg207His Missense 7/8 -
10-102295836-C-G HIF1AN c.121C>G p.Pro41Ala Missense 1/8 -
18-44560143-C-T ELOA2 c.1493G>A p.Arg498Gln Missense 1/1 -
19-49339098-T-C HSD17B14 c.91A>G p.Asn31Asp Missense 2/9 -
17-37901172-C-T GRB7 c.946C>T p.Arg316Trp Missense 9/15 -
1-110282511-A-G GSTM3 c.68T>C p.Leu23Pro Missense 3/9 -
7-148950895-C-T ZNF212 c.877C>T p.His293Tyr Missense 5/5 -
5-74990645-T-C POC5 c.450A>G p.Ile150Met Missense 5/11 -
7-142989780-G-A CASP2 c.464G>A p.Arg155His Missense 4/11 -
5-74986278-C-T POC5 c.830G>A p.Arg277Lys Missense 7/11 -
1-15832495-T-G CASP9 c.461A>C p.His154Pro Missense 5/9 -
1-156256257-G-A TMEM79 c.964G>A p.Val322Ile Missense 3/4 -
12-12871237-C-G CDKN1B c.464C>G p.Pro155Arg Missense 1/3 -
1-151141485-G-C SCNM1 c.617G>C p.Arg206Pro Missense 7/7 -
15-34635241-C-G NOP10 c.34G>C p.Asp12His Missense 1/2 -
7-99621814-G-C ZKSCAN1 c.464G>C p.Arg155Thr Missense 3/6 -
7-99621814-G-A ZKSCAN1 c.464G>A p.Arg155Lys Missense 3/6 -
9-97082748-G-C NUTM2F c.1110C>G p.Asn370Lys Missense 5/7 -
9-97082748-G-A NUTM2F c.1110C>T p.Asn370Asn Synonymous 5/7 -
9-97082748-G-T NUTM2F c.1110C>A p.Asn370Lys Missense 5/7 -
12-110032921-G-A MVK c.974G>A p.Arg325His Missense 10/11 -
1-40137610-T-C NT5C1A c.101A>G p.Tyr34Cys Missense 1/6 -
7-92404051-C-T CDK6 c.328G>A p.Asp110Asn Missense 3/8 -
15-45361227-G-T SORD c.763G>T p.Ala255Ser Missense 7/9 -
3-58552329-C-G FAM107A c.421G>C p.Glu141Gln Missense 5/5 -
15-45361227-G-A SORD c.763G>A p.Ala255Thr Missense 7/9 -
X-129054446-G-A UTP14A c.766G>A p.Val256Met Missense 9/15 -
22-37158985-G-A IFT27 c.422C>T p.Ala141Val Missense 6/7 -
10-70048739-T-C PBLD c.461A>G p.Tyr154Cys Missense 7/10 -
17-15231385-C-T TEKT3 c.587G>A p.Arg196Gln Missense 4/9 -
1-233802497-G-T KCNK1 c.512G>T p.Arg171Leu Missense 2/3 -
8-26492404-G-T DPYSL2 c.799G>T p.Ala267Ser Missense 8/14 -
3-128204951-C-T GATA2 c.490G>A p.Ala164Thr Missense 3/6 -
17-7529902-G-A SAT2 c.376C>T p.Arg126Cys Missense 6/6 -
1-60309107-A-G HOOK1 c.625A>G p.Thr209Ala Missense 9/22 -
11-103907809-C-A DDI1 c.259C>A p.Arg87Ser Missense 1/1 -
1-15545913-A-G TMEM51 c.436A>G p.Arg146Gly Missense 3/3 -
5-145442133-G-C SH3RF2 c.2059G>C p.Val687Leu Missense 10/10 -
5-145442133-G-A SH3RF2 c.2059G>A p.Val687Ile Missense 10/10 -
16-30364712-G-A CD2BP2 c.785C>T p.Thr262Ile Missense 5/7 -
9-123675733-T-C TRAF1 c.578A>G p.Lys193Arg Missense 5/8 -
12-124114804-A-G EIF2B1 c.281T>C p.Ile94Thr Missense 4/9 -
1-20915731-C-A CDA c.109C>A p.Pro37Thr Missense 1/4 -
19-367089-G-A THEG c.889C>T p.His297Tyr Missense 7/8 -
17-42429839-G-C GRN c.1544G>C p.Gly515Ala Missense 12/13 -
9-18941703-T-C SAXO1 c.353A>G p.Asp118Gly Missense 3/4 -
1-227152821-G-T COQ8A c.298G>T p.Asp100Tyr Missense 3/15 -
17-40926690-A-G VPS25 c.226A>G p.Ile76Val Missense 3/6 -
1-227152821-G-A COQ8A c.298G>A p.Asp100Asn Missense 3/15 -
11-64807235-C-T SNX15 c.1000C>T p.Arg334Cys Missense 8/8 -
4-124323633-G-A SPRY1 c.887G>A p.Arg296Lys Missense 3/3 -
2-95537568-C-A TEKT4 c.244C>A p.Arg82Ser Missense 1/6 -
17-39135207-A-G KRT40 c.1045T>C p.Cys349Arg Missense 8/9 -
16-69942692-C-T WWP2 c.943C>T p.Arg315Cys Missense 10/25 -
2-95537568-C-T TEKT4 c.244C>T p.Arg82Cys Missense 1/6 -
1-203054944-G-T MYOG c.146C>A p.Pro49His Missense 1/3 -
11-61674027-A-G RAB3IL1 c.568T>C p.Ser190Pro Missense 5/10 -
10-95441272-G-A FRA10AC1 c.752C>T p.Ser251Phe Missense 11/14 -
1-24125170-G-T GALE c.172C>A p.Arg58Ser Missense 4/12 -
7-27135238-G-T HOXA1 c.294C>A p.Ser98Arg Missense 1/2 -
7-127224417-C-T GCC1 c.820G>A p.Ala274Thr Missense 1/2 -
7-127224417-C-G GCC1 c.820G>C p.Ala274Pro Missense 1/2 -
20-61869789-A-G BIRC7 c.491A>G p.His164Arg Missense 3/7 -
10-6152057-C-T RBM17 c.671C>T p.Thr224Ile Missense 7/12 -
12-52881544-G-C KRT6A c.1655C>G p.Thr552Ser Missense 9/9 -
9-97367746-T-C FBP1 c.818A>G p.Asn273Ser Missense 6/7 -
1-52492993-G-A TXNDC12 c.239C>T p.Thr80Met Missense 4/7 -
1-26369919-G-A SLC30A2 c.395C>T p.Thr132Met Missense 3/7 -
7-87537188-A-G DBF4 c.1735A>G p.Lys579Glu Missense 12/12 -
17-38510699-C-G RARA c.953C>G p.Pro318Arg Missense 7/9 -
13-48833078-T-C ITM2B c.710T>C p.Ile237Thr Missense 5/6 -
17-38510699-C-A RARA c.953C>A p.Pro318His Missense 7/9 -
14-75746805-A-G FOS c.367A>G p.Ile123Val Missense 2/4 -
19-48789063-A-T ZNF114 c.182A>T p.Asp61Val Missense 6/6 -
2-208477802-C-G METTL21A c.625G>C p.Ala209Pro Missense 4/4 -
21-40800371-C-T LCA5L c.49G>A p.Gly17Ser Missense 4/10 -
17-79986156-C-T LRRC45 c.1094C>T p.Ala365Val Missense 10/17 -
7-5567417-C-T ACTB c.1090G>A p.Glu364Lys Missense 6/6 -
7-5567417-C-G ACTB c.1090G>C p.Glu364Gln Missense 6/6 -
16-89971453-T-C TCF25 c.1577T>C p.Val526Ala Missense 14/18 -
21-44480591-G-A CBS c.1105C>T p.Arg369Cys Missense 12/17 -
5-94989878-A-C RFESD c.113A>C p.Asp38Ala Missense 3/5 -
3-119222842-C-A TIMMDC1 c.491C>A p.Ala164Asp Missense 4/7 -
1-20931448-C-T CDA c.182C>T p.Pro61Leu Missense 2/4 -
8-95272605-G-C GEM c.127C>G p.Arg43Gly Missense 2/5 -
8-95272605-G-A GEM c.127C>T p.Arg43Cys Missense 2/5 -
11-1298430-C-T TOLLIP c.664G>A p.Ala222Thr Missense 6/6 -
11-1298430-C-A TOLLIP c.664G>T p.Ala222Ser Missense 6/6 -
6-42930812-G-A GNMT c.454G>A p.Asp152Asn Missense 4/6 -
3-167184878-T-C SERPINI2 c.443A>G p.Glu148Gly Missense 3/9 -
1-11115941-C-T SRM c.662G>A p.Arg221Gln Missense 6/8 -
6-122733526-A-C HSF2 c.102A>C p.Gln34His Missense 2/13 -
19-49337604-G-C HSD17B14 c.139C>G p.Arg47Gly Missense 3/9 -
19-49337604-G-A HSD17B14 c.139C>T p.Arg47Trp Missense 3/9 -
22-43287153-C-T PACSIN2 c.253G>A p.Ala85Thr Missense 4/11 -
7-99171127-T-G ZNF655 c.1396T>G p.Cys466Gly Missense 3/3 -
3-183963381-T-C ALG3 c.319A>G p.Ile107Val Missense 3/9 -
15-74925233-T-G EDC3 c.1247A>C p.Asn416Thr Missense 7/7 -
14-23828893-G-C EFS c.287C>G p.Ser96Cys Missense 4/6 -
14-23828893-G-A EFS c.287C>T p.Ser96Phe Missense 4/6 -
20-60878783-C-T ADRM1 c.159C>T p.Asp53Asp Synonymous 2/9 -
2-220367140-G-A GMPPA c.466G>A p.Val156Ile Missense 6/13 -
2-73868328-A-G NAT8 c.428T>C p.Phe143Ser Missense 2/2 -
X-1714407-G-A ASMT c.-86G>A - 5_prime_UTR_variant 1/10 -
2-39006206-G-C GEMIN6 c.74G>C p.Ser25Thr Missense 2/3 -
7-56088812-C-T PSPH c.94G>A p.Asp32Asn Missense 4/8 -
17-7216780-C-T GPS2 c.643G>A p.Ala215Thr Missense 8/11 -
13-25876011-G-A NUP58 c.100G>A p.Ala34Thr Missense 1/15 -
11-65713221-C-T TSGA10IP c.75C>T p.Asp25Asp Synonymous 1/8 -
8-11157617-C-G MTMR9 c.377C>G p.Ser126Cys Missense 3/10 -
17-15217437-C-G TEKT3 c.845G>C p.Gly282Ala Missense 6/9 -
11-65714940-T-G TSGA10IP c.644T>G p.Val215Gly Missense 3/8 -
11-65714940-T-C TSGA10IP c.644T>C p.Val215Ala Missense 3/8 -
12-54394337-C-T HOXC9 c.365C>T p.Ala122Val Missense 1/2 -
X-152159208-C-T PNMA5 c.935G>A p.Arg312Gln Missense 2/2 -
11-119989017-G-A TRIM29 c.1541C>T p.Ser514Phe Missense 7/9 -
11-111942004-G-T PIH1D2 c.305C>A p.Ala102Asp Missense 4/6 -
4-110610604-T-G CASP6 c.764A>C p.Lys255Thr Missense 7/7 -
16-71603792-G-A TAT c.1090C>T p.Arg364Trp Missense 10/12 -
1-182354972-C-A GLUL c.526G>T p.Val176Leu Missense 6/8 -
17-7137424-G-A DVL2 c.158C>T p.Ala53Val Missense 1/15 -
1-1686081-G-C NADK c.745C>G p.Arg249Gly Missense 8/12 -
6-159407447-G-A RSPH3 c.637C>T p.Arg213Trp Missense 3/8 -
12-44180295-G-A IRAK4 c.1282G>A p.Ala428Thr Missense 12/13 -
6-26271230-G-C HIST1H3G c.383C>G p.Ala128Gly Missense 1/1 -
3-25781075-A-G NGLY1 c.874T>C p.Phe292Leu Missense 5/12 -
6-30126225-A-G TRIM10 c.707T>C p.Ile236Thr Missense 3/7 -
19-34942921-C-A UBA2 c.907C>A p.Pro303Thr Missense 10/17 -
5-82406873-G-A XRCC4 c.166G>A p.Ala56Thr Missense 3/8 -
11-65713221-C-G TSGA10IP c.75C>G p.Asp25Glu Missense 1/8 -
10-135051543-T-C VENTX c.125T>C p.Leu42Pro Missense 1/3 -
10-135051543-T-G VENTX c.125T>G p.Leu42Arg Missense 1/3 -
8-11157617-C-T MTMR9 c.377C>T p.Ser126Phe Missense 3/10 -
2-70057206-A-G GMCL1 c.182A>G p.Tyr61Cys Missense 1/14 -
X-38156677-C-T RPGR c.1274G>A p.Arg425Lys Missense 11/19 -
14-65007898-G-C HSPA2 c.331G>C p.Glu111Gln Missense 1/1 -
11-77931466-C-A GAB2 c.1786G>T p.Val596Phe Missense 9/10 -
3-37053550-G-A MLH1 c.637G>A p.Val213Met Missense 8/19 -
9-139820231-G-A TRAF2 c.1384G>A p.Asp462Asn Missense 11/11 -
14-105639591-C-T NUDT14 c.436G>A p.Val146Met Missense 5/5 -
19-44611654-G-A ZNF224 c.1341G>A p.Gln447Gln Synonymous 6/6 -
9-123675634-C-T TRAF1 c.677G>A p.Arg226His Missense 5/8 -
12-6437037-G-A PLEKHG6 c.2288G>A p.Arg763Gln Missense 15/16 -
11-33796016-G-A FBXO3 c.28C>T p.Pro10Ser Missense 1/11 -
5-162902516-T-C HMMR c.1103T>C p.Val368Ala Missense 11/18 -
X-151092258-C-T MAGEA4 c.122C>T p.Ser41Phe Missense 3/3 -
17-66521899-A-G PRKAR1A c.554A>G p.Tyr185Cys Missense 8/12 -
3-49866894-C-A TRAIP c.1284G>T p.Gln428His Missense 14/15 -
20-44757524-C-G CD40 c.679C>G p.Pro227Ala Missense 9/9 -
20-44757524-C-T CD40 c.679C>T p.Pro227Ser Missense 9/9 -
1-203054651-G-A MYOG c.439C>T p.Arg147Cys Missense 1/3 -
6-159399348-A-G RSPH3 c.1316T>C p.Met439Thr Missense 7/8 -
3-10191563-G-A VHL c.556G>A p.Glu186Lys Missense 3/3 -
17-7129898-G-A DVL2 c.1604C>T p.Thr535Ile Missense 14/15 -
5-78417158-G-C BHMT c.595G>C p.Gly199Arg Missense 5/8 -
6-159398700-C-T RSPH3 c.1553G>A p.Gly518Asp Missense 8/8 -
13-52603241-A-G ALG11 c.*515A>G - 3-UTRSNV 4/4 -
19-48789951-A-C ZNF114 c.1070A>C p.Gln357Pro Missense 6/6 -
12-44130330-G-T PUS7L c.1579C>A p.Arg527Ser Missense 7/9 -
10-70044031-T-A PBLD c.770A>T p.His257Leu Missense 10/10 -
15-57213240-T-A TCF12 c.92T>A p.Val31Asp Missense 3/20 -
15-57213240-T-C TCF12 c.92T>C p.Val31Ala Missense 3/20 -
1-156255456-G-A TMEM79 c.439G>A p.Val147Met Missense 2/4 -
6-97051559-G-T FHL5 c.70G>T p.Asp24Tyr Missense 3/7 -
X-37961637-T-C SYTL5 c.1105T>C p.Ser369Pro Missense 10/17 -
13-30054431-C-T MTUS2 c.3329C>T - missense_variant 8/14 -
13-30054431-C-A MTUS2 c.3329C>A - missense_variant 8/14 -
22-43289562-C-T PACSIN2 c.118G>A p.Asp40Asn Missense 3/11 -
17-44248837-T-C KANSL1 c.673A>G p.Asn225Asp Missense 2/15 -
1-169953815-A-C KIFAP3 c.1301T>G p.Phe434Cys Missense 12/20 -
X-153609400-G-A EMD c.608G>A p.Arg203His Missense 6/6 -
9-97369149-C-T FBP1 c.653G>A p.Arg218Lys Missense 5/7 -
7-75189125-T-C HIP1 c.1286A>G p.Asp429Gly Missense 14/31 -
21-44485379-G-A CBS c.670C>T p.Arg224Cys Missense 8/17 -
2-198646549-G-T BOLL c.26C>A p.Ser9Tyr Missense 2/11 -
16-71602132-A-G TAT c.1280T>C p.Met427Thr Missense 12/12 -
4-4322624-C-G ZBTB49 c.1879C>G p.Pro627Ala Missense 8/8 -
12-102455044-A-T WASHC3 c.132T>A p.Phe44Leu Missense 2/7 -
17-42985473-T-C GFAP c.1216A>G p.Arg406Gly Missense 8/9 -
12-3043690-C-T TULP3 c.887C>T p.Ala296Val Missense 8/11 -
3-53326488-G-T DCP1A c.994C>A p.Pro332Thr Missense 7/10 -
2-106002865-C-T FHL2 c.109G>A p.Ala37Thr Missense 3/7 -
2-106002865-C-A FHL2 c.109G>T p.Ala37Ser Missense 3/7 -
6-97051559-G-A FHL5 c.70G>A p.Asp24Asn Missense 3/7 -
15-40512818-A-G BUB1B-PAK6 c.-201+2950A>G - intron_variant - 1/10
6-139564150-G-A TXLNB c.1568C>T p.Thr523Ile Missense 10/10 -
14-81659174-G-A GTF2A1 c.622C>T p.Pro208Ser Missense 7/9 -
3-121377132-C-G HCLS1 c.63G>C p.Trp21Cys Missense 2/14 -
9-139814833-G-C TRAF2 c.826G>C p.Glu276Gln Missense 8/11 -
X-9000463-C-T FAM9B c.68G>A p.Arg23His Missense 3/9 -
6-139564150-G-T TXLNB c.1568C>A p.Thr523Asn Missense 10/10 -
2-106497930-G-C NCK2 c.373G>C p.Glu125Gln Missense 4/5 -
2-106497930-G-A NCK2 c.373G>A p.Glu125Lys Missense 4/5 -
17-48503677-G-T ACSF2 c.55G>T p.Gly19Trp Missense 1/16 -
2-106497930-G-T NCK2 c.373G>T p.Glu125* Nonsense 4/5 -
12-88380137-A-G C12orf50 c.874T>C p.Trp292Arg Missense 10/13 -
3-37067240-T-A MLH1 c.1151T>A p.Val384Asp Missense 12/19 -
11-6631758-G-A ILK c.1275G>A p.Met425Ile Missense 13/13 -
6-33380081-C-T PHF1 c.41C>T p.Ser14Leu Missense 2/14 -
1-24123419-C-T GALE c.656G>A p.Arg219Gln Missense 8/12 -
19-46417913-G-C NANOS2 c.39C>G p.Phe13Leu Missense 1/1 -
17-46257518-T-C SKAP1 c.724A>G p.Ser242Gly Missense 9/13 -
3-37089131-A-T MLH1 c.1853A>T p.Lys618Met Missense 16/19 -
12-6436628-C-T PLEKHG6 c.1879C>T p.Arg627Trp Missense 15/16 -
3-37089131-A-C MLH1 c.1853A>C p.Lys618Thr Missense 16/19 -
3-37089131-A-G MLH1 c.1853A>G p.Lys618Arg Missense 16/19 -
11-46329489-G-A CREB3L1 c.454G>A p.Ala152Thr Missense 3/12 -
19-373509-G-C THEG c.526C>G p.Arg176Gly Missense 4/8 -
16-71603791-C-T TAT c.1091G>A p.Arg364Gln Missense 10/12 -
17-39525806-C-T KRT33B c.197G>A p.Arg66His Missense 1/7 -
1-115601595-C-A TSPAN2 c.353G>T p.Arg118Leu Missense 5/8 -
1-115601595-C-T TSPAN2 c.353G>A p.Arg118Gln Missense 5/8 -
4-145041720-A-G GYPA c.59T>C p.Leu20Ser Missense 2/7 -
4-104016424-T-G BDH2 c.87A>C p.Glu29Asp Missense 3/10 -
X-49114787-G-C FOXP3 c.176C>G p.Ser59Cys Missense 2/12 -
3-48965078-A-C ARIH2 c.87A>C p.Glu29Asp Missense 3/16 -
9-135702319-C-T AK8 c.679G>A p.Val227Ile Missense 8/13 -
19-19674370-C-T PBX4 c.980G>A p.Arg327Gln Missense 7/8 -
1-154918654-C-T PBXIP1 c.1496G>A p.Arg499Gln Missense 10/11 -
11-111941959-G-A PIH1D2 c.350C>T p.Ala117Val Missense 4/6 -
11-65715204-G-A TSGA10IP c.908G>A p.Arg303Gln Missense 3/8 -
18-47908556-G-A SKA1 c.271G>A p.Val91Ile Missense 4/7 -
6-97058547-A-T FHL5 c.604A>T p.Met202Leu Missense 6/7 -
10-21139389-T-C NEBL c.1051A>G p.Met351Val Missense 11/28 -
19-49339590-G-A HSD17B14 c.79C>T p.Arg27Cys Missense 1/9 -
19-48785674-A-G ZNF114 c.56A>G p.Glu19Gly Missense 5/6 -
1-15820448-G-T CASP9 c.848C>A p.Thr283Asn Missense 8/9 -
6-159407446-C-T RSPH3 c.638G>A p.Arg213Gln Missense 3/8 -
16-67694302-C-T ACD c.80G>A p.Gly27Glu Missense 1/12 -
16-11362729-G-A TNP2 c.391C>T p.Arg131Trp Missense 1/2 -
20-31434428-A-G MAPRE1 c.602A>G p.Asn201Ser Missense 6/7 -
19-46417735-G-A NANOS2 c.217C>T p.Arg73Cys Missense 1/1 -
2-74076511-G-A STAMBP c.764G>A p.Arg255His Missense 7/11 -
12-110341933-A-C TCHP c.380A>C p.Lys127Thr Missense 3/13 -
22-43280401-T-A PACSIN2 c.776A>T p.Asn259Ile Missense 6/11 -
11-70052416-A-T FADD c.464A>T p.Asn155Ile Missense 2/2 -
3-33893987-A-G PDCD6IP c.1664A>G p.Asn555Ser Missense 13/18 -
16-4827944-G-A SEPT12 c.931C>T p.Arg311Cys Missense 10/10 -
3-167413505-T-C PDCD10 c.274A>G p.Met92Val Missense 6/9 -
3-183906916-C-T ABCF3 c.1018C>T p.Arg340Trp Missense 10/21 -
10-106039185-A-T GSTO2 c.424A>T p.Asn142Tyr Missense 5/7 -
9-97333824-C-T FBP2 c.487G>A p.Ala163Thr Missense 4/7 -
22-38934606-T-C DMC1 c.598A>G p.Met200Val Missense 10/14 -
19-16528799-G-C EPS15L1 c.1067C>G p.Pro356Arg Missense 11/23 -
19-16528799-G-A EPS15L1 c.1067C>T p.Pro356Leu Missense 11/23 -
9-97355870-A-C FBP2 c.139T>G p.Ser47Ala Missense 1/7 -
7-100853838-G-A PLOD3 c.1475C>T p.Ala492Val Missense 13/19 -
11-6629323-G-C ILK c.137G>C p.Arg46Pro Missense 3/13 -
11-6629323-G-A ILK c.137G>A p.Arg46His Missense 3/13 -
1-32647133-C-T TXLNA c.460C>T p.Arg154* Nonsense 3/11 -
12-124111627-C-T EIF2B1 c.446G>A p.Ser149Asn Missense 5/9 -
12-124111627-C-G EIF2B1 c.446G>C p.Ser149Thr Missense 5/9 -
10-95259979-C-G CEP55 c.171C>G p.His57Gln Missense 2/9 -
3-122146516-G-A KPNA1 c.1298C>T p.Thr433Met Missense 13/14 -
1-169823718-T-G SCYL3 c.1862A>C p.Gln621Pro Missense 13/14 -
2-28004542-C-G RBKS c.909G>C p.Gln303His Missense 8/8 -
4-38879818-C-T FAM114A1 c.119C>T p.Ser40Leu Missense 3/15 -
14-20779909-T-C CCNB1IP1 c.634A>G p.Asn212Asp Missense 7/7 -
7-72745715-G-A FKBP6 c.524G>A p.Arg175Gln Missense 5/9 -
X-48978819-C-T GPKOW c.385G>A p.Ala129Thr Missense 3/11 -
X-48978819-C-A GPKOW c.385G>T p.Ala129Ser Missense 3/11 -
19-41898802-C-T EXOSC5 c.232G>A p.Val78Met Missense 2/6 -
5-79616059-G-A SPZ1 c.25G>A p.Glu9Lys Missense 1/1 -
1-24124207-C-G GALE c.506G>C p.Arg169Pro Missense 6/12 -
5-162909667-A-G HMMR c.1402A>G p.Ser468Gly Missense 13/18 -
12-49399132-G-C PRKAG1 c.266C>G p.Thr89Ser Missense 5/12 -
3-121351338-C-T HCLS1 c.1081G>A p.Glu361Lys Missense 12/14 -
16-23400309-G-T COG7 c.2245C>A p.Gln749Lys Missense 17/17 -
16-23400309-G-C COG7 c.2245C>G p.Gln749Glu Missense 17/17 -
3-145938619-T-C PLSCR4 c.101A>G p.Asn34Ser Missense 3/9 -
6-24785898-A-T GMNN c.501A>T p.Glu167Asp Missense 7/7 -
6-31610686-A-G BAG6 c.1855T>C p.Ser619Pro Missense 14/25 -
6-143825104-G-T FUCA2 c.698C>A p.Ala233Glu Missense 3/7 -
8-6783453-C-A DEFA6 c.105G>T p.Glu35Asp Missense 1/2 -
18-48591825-G-A SMAD4 c.988G>A p.Glu330Lys Missense 9/12 -
3-50614990-T-G HEMK1 c.600T>G p.His200Gln Missense 6/11 -
3-50614990-T-C HEMK1 c.600T>C p.His200His Synonymous 6/11 -
6-42930068-G-A GNMT c.325G>A p.Asp109Asn Missense 2/6 -
2-74074637-G-A STAMBP c.499G>A p.Glu167Lys Missense 6/11 -
19-41898783-A-G EXOSC5 c.251T>C p.Ile84Thr Missense 2/6 -
14-102815042-C-T CINP c.491G>A p.Arg164His Missense 5/5 -
10-70045156-C-T PBLD c.703G>A p.Ala235Thr Missense 9/10 -
1-1686081-G-A NADK c.745C>T p.Arg249Trp Missense 8/12 -
17-40491371-C-T STAT3 c.429G>A p.Met143Ile Missense 5/24 -
3-37038199-G-C MLH1 c.206G>C p.Arg69Thr Missense 2/19 -
3-37038199-G-A MLH1 c.206G>A p.Arg69Lys Missense 2/19 -
14-62207557-C-T HIF1A c.1744C>T p.Pro582Ser Missense 12/15 -
18-44560875-C-A ELOA2 c.761G>T p.Cys254Phe Missense 1/1 -
16-57474740-G-A CIAPIN1 c.101C>T p.Ala34Val Missense 2/9 -
16-57474740-G-T CIAPIN1 c.101C>A p.Ala34Glu Missense 2/9 -
2-28055626-G-A RBKS c.533C>T p.Pro178Leu Missense 6/8 -
1-236902771-A-T ACTN2 c.1046A>T p.Gln349Leu Missense 10/21 -
17-66042638-G-T KPNA2 c.1516G>T p.Val506Phe Missense 11/11 -
17-66042638-G-A KPNA2 c.1516G>A p.Val506Ile Missense 11/11 -
6-117900146-G-C GOPC c.367C>G p.Leu123Val Missense 2/9 -
2-25523096-T-G DNMT3A c.89A>C p.Glu30Ala Missense 3/23 -
2-25523096-T-C DNMT3A c.89A>G p.Glu30Gly Missense 3/23 -
10-48371220-T-C ZNF488 c.688T>C p.Cys230Arg Missense 2/2 -
10-53822301-A-G PRKG1 c.800A>G p.Asn267Ser Missense 7/18 -
1-51439833-G-A CDKN2C c.398G>A p.Arg133Gln Missense 3/3 -
17-73126866-C-T NT5C c.337-134G>A - IntronicSNV - 3/3
X-40456851-C-T ATP6AP2 c.469C>T p.Arg157Cys Missense 5/9 -
9-35663006-C-T ARHGEF39 c.610G>A p.Asp204Asn Missense 6/9 -
19-9449242-T-A ZNF559-ZNF177 c.-407T>A - 5_prime_UTR_variant 3/12 -
14-94511065-G-A OTUB2 c.437G>A p.Arg146Gln Missense 5/6 -
14-94511065-G-C OTUB2 c.437G>C p.Arg146Pro Missense 5/6 -
1-20931528-G-A CDA c.262G>A p.Ala88Thr Missense 2/4 -
22-42998873-C-T POLDIP3 c.353G>A p.Arg118Gln Missense 2/9 -
1-151339230-C-T SELENBP1 c.446G>A p.Arg149Gln Missense 5/11 -
1-91985753-A-C CDC7 c.1247A>C p.Lys416Thr Missense 11/12 -
8-145649365-G-A VPS28 c.548+59C>T - IntronicSNV - 9/9
X-69255382-G-A EDA c.1099G>A p.Ala367Thr Missense 8/8 -
12-52885433-G-C KRT6A c.628C>G p.Leu210Val Missense 2/9 -
12-52885433-G-T KRT6A c.628C>A p.Leu210Met Missense 2/9 -
17-39134528-G-A KRT40 c.1217C>T p.Ser406Leu Missense 9/9 -
17-43226622-C-T HEXIM1 c.65C>T p.Ala22Val Missense 1/1 -
6-33423395-C-G ZBTB9 c.518C>G p.Ser173Cys Missense 2/2 -
14-24680652-C-T CHMP4A c.457G>A p.Ala153Thr Missense 4/6 -
10-91065949-A-T IFIT2 c.236A>T p.Glu79Val Missense 2/2 -
17-42978446-A-G CCDC103 c.80A>G p.Lys27Arg Missense 2/4 -
3-184910078-G-A EHHADH c.1820C>T p.Ser607Phe Missense 7/7 -
11-64807175-C-T SNX15 c.940C>T p.Arg314Cys Missense 8/8 -
3-32578505-T-A DYNC1LI1 c.830A>T p.Gln277Leu Missense 6/13 -
11-112104207-C-T PTS c.367C>T p.Pro123Ser Missense 6/6 -
19-44611654-G-T ZNF224 c.1341G>T p.Gln447His Missense 6/6 -
X-38163917-C-G RPGR c.905G>C p.Cys302Ser Missense 8/19 -
20-60882747-C-A ADRM1 c.602C>A p.Thr201Asn Missense 6/9 -
20-60882747-C-G ADRM1 c.602C>G p.Thr201Ser Missense 6/9 -
12-123352068-C-T VPS37B c.453G>A p.Met151Ile Missense 4/4 -
7-75190694-A-G HIP1 c.1130T>C p.Ile377Thr Missense 13/31 -
X-129059157-A-G UTP14A c.1735A>G p.Thr579Ala Missense 12/15 -
5-639231-C-A CEP72 c.1234C>A p.Pro412Thr Missense 8/12 -
6-31632088-G-C GPANK1 c.168C>G p.Asp56Glu Missense 2/3 -
1-182356356-C-T GLUL c.238G>A p.Val80Met Missense 4/8 -
15-45361162-C-T SORD c.698C>T p.Ala233Val Missense 7/9 -
1-51735793-C-T RNF11 c.289C>T p.Arg97Trp Missense 2/3 -
19-374004-G-A THEG c.439C>T p.Arg147Cys Missense 3/8 -
1-160252826-G-T PEX19 c.254C>A p.Ala85Glu Missense 3/8 -
1-160252826-G-A PEX19 c.254C>T p.Ala85Val Missense 3/8 -
3-25611288-C-T RARB c.488C>T p.Ser163Leu Missense 4/8 -
3-25611288-C-G RARB c.488C>G p.Ser163Trp Missense 4/8 -
3-137822552-G-A DZIP1L c.262C>T p.Arg88Cys Missense 2/16 -
11-118849911-G-C FOXR1 c.381G>C p.Trp127Cys Missense 3/6 -
1-46669276-A-C LURAP1 c.178A>C p.Met60Leu Missense 1/2 -
1-46669276-A-G LURAP1 c.178A>G p.Met60Val Missense 1/2 -
2-70096978-G-A GMCL1 c.1346G>A p.Arg449Gln Missense 12/14 -
12-124115018-C-G EIF2B1 c.178G>C p.Asp60His Missense 3/9 -
19-12781559-G-C WDR83 c.430G>C p.Glu144Gln Missense 5/9 -
1-93826178-A-T DR1 c.513A>T p.Glu171Asp Missense 3/3 -
6-42930827-C-T GNMT c.469C>T p.Arg157Trp Missense 4/6 -
9-35735184-A-G CREB3 c.514A>G p.Lys172Glu Missense 5/9 -
2-25469928-C-T DNMT3A c.1114G>A p.Val372Ile Missense 9/23 -
12-124109390-C-G EIF2B1 c.571G>C p.Asp191His Missense 7/9 -
16-69959355-A-G WWP2 c.1202A>G p.His401Arg Missense 12/25 -
10-135123419-G-A ZNF511 c.367G>A p.Asp123Asn Missense 3/6 -
13-30829650-T-C KATNAL1 c.426A>G p.Ile142Met Missense 4/11 -
4-110618790-T-C CASP6 c.218A>G p.Asn73Ser Missense 3/7 -
1-12082938-C-A MIIP c.511C>A p.Arg171Ser Missense 4/10 -
16-4836054-T-G SEPT12 c.219A>C p.Lys73Asn Missense 3/10 -
16-4836054-T-C SEPT12 c.219A>G p.Lys73Lys Synonymous 3/10 -
12-33021934-A-G PKP2 c.1097T>C p.Leu366Pro Missense 4/14 -
6-97058553-A-C FHL5 c.610A>C p.Arg204Arg Synonymous 6/7 -
6-28056829-A-T ZNF165 c.1039A>T p.Asn347Tyr Missense 4/4 -
16-67691668-A-G ACD c.1286T>C - missense_variant 11/12 -
12-58144446-G-A CDK4 c.625C>T p.Arg209Cys Missense 5/8 -
15-74927810-T-C EDC3 c.1132A>G p.Ile378Val Missense 6/7 -
11-103908172-C-G DDI1 c.622C>G p.Arg208Gly Missense 1/1 -
11-103908172-C-A DDI1 c.622C>A p.Arg208Arg Synonymous 1/1 -
11-103908172-C-T DDI1 c.622C>T p.Arg208Trp Missense 1/1 -
7-148950691-G-A ZNF212 c.673G>A p.Glu225Lys Missense 5/5 -
3-10183725-C-T VHL c.194C>T p.Ser65Leu Missense 1/3 -
3-10183725-C-G VHL c.194C>G p.Ser65Trp Missense 1/3 -
3-10183725-C-A VHL c.194C>A p.Ser65* Nonsense 1/3 -
19-48537585-A-G CABP5 c.383T>C p.Val128Ala Missense 5/6 -
1-25573396-G-A RSRP1 c.59C>T p.Ser20Leu Missense 2/5 -
12-124109390-C-T EIF2B1 c.571G>A p.Asp191Asn Missense 7/9 -
4-110618790-T-G CASP6 c.218A>C p.Asn73Thr Missense 3/7 -
17-42979917-A-C CCDC103 c.461A>C p.His154Pro Missense 4/4 -
16-85711861-G-A GINS2 c.515C>T p.Thr172Met Missense 5/5 -
22-38917703-A-G DMC1 c.863T>C p.Ile288Thr Missense 13/14 -
6-24781801-A-G GMNN c.226A>G p.Lys76Glu Missense 4/7 -
12-118463608-T-C RFC5 c.638T>C p.Met213Thr Missense 7/11 -
22-38917703-A-C DMC1 c.863T>G p.Ile288Ser Missense 13/14 -
9-139814797-G-A TRAF2 c.790G>A p.Ala264Thr Missense 8/11 -
16-85711861-G-T GINS2 c.515C>A p.Thr172Lys Missense 5/5 -
16-53532453-C-T AKTIP c.98G>A p.Arg33Gln Missense 3/10 -
3-121354620-G-A HCLS1 c.653C>T p.Pro218Leu Missense 9/14 -
6-159414899-T-C RSPH3 c.602A>G p.Asn201Ser Missense 2/8 -
4-130032843-A-G C4orf33 c.497A>G p.His166Arg Missense 6/6 -
17-34431350-T-C CCL4 c.52T>C p.Cys18Arg Missense 1/3 -
X-44171953-T-C EFHC2 c.92A>G p.Asn31Ser Missense 2/15 -
7-91622257-C-A AKAP9 c.464C>A p.Thr155Asn Missense 5/50 -
1-909238-G-A PLEKHN1 c.1460G>A p.Arg487His Missense 14/16 -
6-28053463-C-T ZNF165 c.205C>T p.Arg69Cys Missense 2/4 -
17-7577577-T-C TP53 c.704A>G p.Asn235Ser Missense 7/11 -
17-7577577-T-A TP53 c.704A>T p.Asn235Ile Missense 7/11 -
2-219266388-C-G CTDSP1 c.169C>G p.His57Asp Missense 2/7 -
3-122170872-T-C KPNA1 c.604A>G p.Met202Val Missense 7/14 -
21-37510224-C-T CBR3 c.391C>T p.Pro131Ser Missense 2/3 -
2-105990062-G-T FHL2 c.285C>A p.Asn95Lys Missense 4/7 -
16-4833691-C-T SEPT12 c.589G>A p.Asp197Asn Missense 6/10 -
2-95537572-C-T TEKT4 c.248C>T p.Thr83Met Missense 1/6 -
11-77690119-C-T INTS4 c.394G>A p.Asp132Asn Missense 4/23 -
5-148680759-G-A AFAP1L1 c.293G>A p.Ser98Asn Missense 4/19 -
1-153784559-G-A GATAD2B c.1469C>T p.Ala490Val Missense 9/11 -
2-95537572-C-A TEKT4 c.248C>A p.Thr83Lys Missense 1/6 -
19-9958804-G-A PIN1 c.370G>A p.Ala124Thr Missense 3/4 -
13-52604955-G-A ALG11 c.*2229G>A - IntergenicSNV 4/4 -
1-152785261-C-T LCE1B c.339C>T p.His113His Synonymous 1/1 -
12-52881632-C-T KRT6A c.1567G>A p.Val523Ile Missense 9/9 -
19-9958804-G-T PIN1 c.370G>T p.Ala124Ser Missense 3/4 -
6-30126303-T-C TRIM10 c.629A>G p.Gln210Arg Missense 3/7 -
6-30126303-T-A TRIM10 c.629A>T p.Gln210Leu Missense 3/7 -
14-65007751-A-G HSPA2 c.184A>G p.Met62Val Missense 1/1 -
19-48537550-C-G CABP5 c.418G>C p.Glu140Gln Missense 5/6 -
19-48537550-C-T CABP5 c.418G>A p.Glu140Lys Missense 5/6 -
X-10535338-C-T MID1 c.250G>A p.Asp84Asn Missense 2/10 -
18-48591891-G-A SMAD4 c.1054G>A p.Gly352Arg Missense 9/12 -
17-28598293-T-G BLMH c.1142A>C p.Glu381Ala Missense 10/12 -
17-49238549-C-T NME1 c.257C>T p.Thr86Met Missense 4/5 -
1-156255448-A-G TMEM79 c.431A>G p.Asp144Gly Missense 2/4 -
3-145917761-T-A PLSCR4 c.463A>T p.Ile155Phe Missense 6/9 -
7-56082840-G-A PSPH c.446C>T p.Thr149Met Missense 7/8 -
6-36653548-C-A CDKN1A c.466C>A p.Arg156Arg Synonymous 4/4 -
7-73097611-G-A DNAJC30 c.143C>T p.Thr48Met Missense 1/1 -
7-73097611-G-T DNAJC30 c.143C>A p.Thr48Lys Missense 1/1 -
9-104130469-C-T BAAT c.602G>A p.Arg201His Missense 3/4 -
9-104130469-C-G BAAT c.602G>C p.Arg201Pro Missense 3/4 -
20-48600631-T-C SNAI1 c.353T>C p.Val118Ala Missense 2/3 -
4-120981323-T-C MAD2L1 c.568A>G p.Ile190Val Missense 5/5 -
20-5096134-A-G PCNA c.667T>C p.Ser223Pro Missense 6/7 -
8-17159718-A-G MTMR7 c.1565T>C p.Met522Thr Missense 13/14 -
1-236911044-C-A ACTN2 c.1484C>A p.Thr495Lys Missense 13/21 -
X-47483825-A-T CFP c.1259T>A p.Met420Lys Missense 10/10 -
1-236911044-C-T ACTN2 c.1484C>T p.Thr495Met Missense 13/21 -
2-219266385-G-A CTDSP1 c.166G>A p.Ala56Thr Missense 2/7 -
X-47483825-A-G CFP c.1259T>C p.Met420Thr Missense 10/10 -
17-34431344-G-A CCL4 c.46G>A p.Ala16Thr Missense 1/3 -
1-171077274-G-T FMO3 c.539G>T p.Gly180Val Missense 5/9 -
1-236849999-A-G ACTN2 c.26A>G p.Gln9Arg Missense 1/21 -
15-45361177-G-T SORD c.713G>T p.Gly238Val Missense 7/9 -
10-127542720-T-G DHX32 c.902A>C p.Asp301Ala Missense 4/11 -
5-159821755-A-T ZBED8 c.743T>A p.Met248Lys Missense 2/2 -
1-94140470-A-T BCAR3 c.17T>A p.Phe6Tyr Missense 4/14 -
16-85722434-T-C GINS2 c.71A>G p.Asp24Gly Missense 1/5 -
5-82500641-G-A XRCC4 c.646G>A p.Ala216Thr Missense 6/8 -
5-82500641-G-T XRCC4 c.646G>T p.Ala216Ser Missense 6/8 -
3-52020630-A-G ACY1 c.536A>G p.Asn179Ser Missense 8/15 -
11-103907737-T-G DDI1 c.187T>G p.Ser63Ala Missense 1/1 -
19-39950556-A-G SUPT5H c.580A>G p.Ile194Val Missense 9/29 -
X-112022687-T-C AMOT c.1468A>G p.Thr490Ala Missense 11/12 -
2-163213305-A-T GCA c.344A>T p.Lys115Ile Missense 5/8 -
11-66102557-C-T RIN1 c.713G>A p.Arg238Gln Missense 6/10 -
5-74981103-C-T POC5 c.1261G>A p.Ala421Thr Missense 9/11 -
5-74981103-C-A POC5 c.1261G>T p.Ala421Ser Missense 9/11 -
X-48544153-G-A WAS c.391G>A p.Glu131Lys Missense 4/12 -
12-53225251-G-A KRT79 c.637C>T p.Arg213Trp Missense 2/9 -
11-61732574-C-G FTH1 c.272G>C p.Cys91Ser Missense 3/4 -
12-110295424-C-T GLTP c.203G>A p.Arg68Gln Missense 3/5 -
1-145688131-G-A RNF115 c.826G>A p.Asp276Asn Missense 9/9 -
10-70044031-T-C PBLD c.770A>G p.His257Arg Missense 10/10 -
3-145924348-C-A PLSCR4 c.319G>T p.Ala107Ser Missense 4/9 -
18-52605235-G-A CCDC68 c.298C>T p.Leu100Leu Synonymous 5/12 -
13-52603896-G-A ALG11 c.*1170G>A - IntergenicSNV 4/4 -
18-44561100-C-G ELOA2 c.536G>C p.Arg179Pro Missense 1/1 -
18-44561100-C-A ELOA2 c.536G>T p.Arg179Leu Missense 1/1 -
6-37250068-C-G TBC1D22B c.529C>G p.Pro177Ala Missense 4/13 -
6-37250068-C-A TBC1D22B c.529C>A p.Pro177Thr Missense 4/13 -
5-82500693-C-A XRCC4 c.698C>A p.Thr233Asn Missense 6/8 -
17-37985732-G-A IKZF3 c.71C>T p.Ala24Val Missense 3/8 -
14-75747823-C-T FOS c.839C>T p.Pro280Leu Missense 4/4 -
13-47354125-G-A ESD c.545C>T p.Pro182Leu Missense 8/10 -
6-136683828-A-G MAP7 c.1286T>C p.Met429Thr Missense 11/18 -
18-48581217-C-A SMAD4 c.521C>A p.Thr174Asn Missense 5/12 -
11-47178652-C-G C11orf49 c.530C>G p.Ser177Trp Missense 6/9 -
1-228601506-C-T TRIM17 c.517G>A p.Glu173Lys Missense 3/7 -
13-47279258-G-T LRCH1 c.1456G>T p.Ala486Ser Missense 12/19 -
7-143087744-G-A ZYX c.1688G>A p.Arg563Gln Missense 10/10 -
7-143087744-G-C ZYX c.1688G>C p.Arg563Pro Missense 10/10 -
13-52440112-A-G CCDC70 c.598A>G p.Met200Val Missense 2/2 -
6-121768751-C-T GJA1 c.758C>T p.Ala253Val Missense 2/2 -
19-55656925-G-T TNNT1 c.115C>A p.Arg39Ser Missense 6/14 -
1-16095104-G-A FBLIM1 c.520G>A p.Val174Ile Missense 4/6 -
1-16095104-G-C FBLIM1 c.520G>C p.Val174Leu Missense 4/6 -
11-65767578-G-C EIF1AD c.142C>G p.Arg48Gly Missense 3/6 -
11-65767578-G-A EIF1AD c.142C>T p.Arg48Cys Missense 3/6 -
6-24495511-G-A ALDH5A1 c.287G>A p.Arg96Gln Missense 1/10 -
8-59343215-A-C UBXN2B c.326A>C p.Asp109Ala Missense 3/8 -
17-42429500-C-T GRN c.1297C>T p.Arg433Trp Missense 11/13 -
19-49337577-C-T HSD17B14 c.166G>A p.Ala56Thr Missense 3/9 -
3-181430689-C-G SOX2 c.541C>G p.Pro181Ala Missense 1/1 -
3-25502773-G-A RARB c.247G>A p.Val83Ile Missense 2/8 -
3-181430689-C-T SOX2 c.541C>T p.Pro181Ser Missense 1/1 -
20-60883201-C-T ADRM1 c.864C>T p.Ile288Ile Synonymous 7/9 -
20-60883201-C-G ADRM1 c.864C>G p.Ile288Met Missense 7/9 -
11-77931466-C-T GAB2 c.1786G>A p.Val596Ile Missense 9/10 -
3-158320703-C-A MLF1 c.676C>A p.Pro226Thr Missense 6/7 -
3-108380982-C-A DZIP3 c.2301C>A p.Phe767Leu Missense 21/33 -
10-71332204-A-G NEUROG3 c.596T>C p.Phe199Ser Missense 2/2 -
1-110655518-G-A UBL4B c.362G>A p.Arg121His Missense 1/1 -
8-27668587-C-G PBK c.660G>C p.Glu220Asp Missense 7/8 -
8-27668587-C-T PBK c.660G>A p.Glu220Glu Synonymous 7/8 -
17-73126654-G-A NT5C c.415C>T p.Arg139Trp Missense 4/4 -
12-122326812-T-C PSMD9 c.50T>C p.Val17Ala Missense 1/6 -
3-49760117-C-T GMPPB c.473G>A p.Arg158Gln Missense 5/8 -
3-52021010-G-A ACY1 c.590G>A p.Arg197Gln Missense 9/15 -
16-67144115-G-A C16orf70 c.37G>A p.Gly13Arg Missense 1/16 -
11-70052331-G-A FADD c.379G>A p.Asp127Asn Missense 2/2 -
17-33428252-G-T RAD51D c.871C>A p.Arg291Ser Missense 9/10 -
17-33428252-G-A RAD51D c.871C>T p.Arg291Cys Missense 9/10 -
4-110610559-A-G CASP6 c.809T>C p.Ile270Thr Missense 7/7 -
4-110610559-A-T CASP6 c.809T>A p.Ile270Asn Missense 7/7 -
10-61112064-T-C FAM13C c.290A>G p.Lys97Arg Missense 3/12 -
19-41897843-C-T EXOSC5 c.287G>A p.Arg96Gln Missense 3/6 -
17-56424928-C-T SUPT4H1 c.194G>A p.Ser65Asn Missense 3/5 -
7-148863090-G-C ZNF398 c.1-253G>C - IntronicSNV 3/7 -
3-37090074-A-G MLH1 c.1963A>G p.Ile655Val Missense 17/19 -
3-37090074-A-T MLH1 c.1963A>T p.Ile655Phe Missense 17/19 -
16-28617485-C-G SULT1A1 c.667G>C p.Val223Leu Missense 7/8 -
16-28617485-C-T SULT1A1 c.667G>A p.Val223Met Missense 7/8 -
20-60883442-G-A ADRM1 c.916G>A p.Ala306Thr Missense 8/9 -
8-21767240-G-C DOK2 c.821C>G p.Pro274Arg Missense 5/5 -
8-21767240-G-A DOK2 c.821C>T p.Pro274Leu Missense 5/5 -
6-41908122-G-A CCND3 c.400C>T p.Pro134Ser Missense 2/5 -
3-52023042-G-A ACY1 c.1178G>A p.Arg393His Missense 15/15 -
3-184429332-T-C MAGEF1 c.278A>G p.Lys93Arg Missense 1/1 -
X-99945125-T-C SYTL4 c.755A>G p.Asp252Gly Missense 10/19 -
22-43010817-G-A POLDIP3 c.47C>T p.Ala16Val Missense 1/9 -
22-43010817-G-T POLDIP3 c.47C>A p.Ala16Glu Missense 1/9 -
19-804613-G-C PTBP1 c.517G>C p.Ala173Pro Missense 6/15 -
19-804613-G-A PTBP1 c.517G>A p.Ala173Thr Missense 6/15 -
19-4446164-G-A UBXN6 c.1082C>T p.Ala361Val Missense 10/11 -
9-125075600-A-T MRRF c.646A>T p.Met216Leu Missense 6/7 -
9-125075600-A-G MRRF c.646A>G p.Met216Val Missense 6/7 -
X-153881552-C-T CTAG2 c.238G>A p.Ala80Thr Missense 1/2 -
3-149245675-T-A WWTR1 c.853A>T p.Thr285Ser Missense 5/7 -
X-69255284-G-T EDA c.1001G>T p.Arg334Leu Missense 8/8 -
X-69255284-G-A EDA c.1001G>A p.Arg334His Missense 8/8 -
X-69255284-G-C EDA c.1001G>C p.Arg334Pro Missense 8/8 -
1-20915740-G-A CDA c.118G>A p.Ala40Thr Missense 1/4 -
17-7577091-G-C TP53 c.847C>G p.Arg283Gly Missense 8/11 -
12-10251445-C-G CLEC1A c.77G>C p.Gly26Ala Missense 1/6 -
9-140317999-C-G NOXA1 c.18C>G p.Asp6Glu Missense 1/14 -
9-116034726-T-C CDC26 c.62A>G p.Asn21Ser Missense 3/4 -
18-44561619-G-T ELOA2 c.17C>A p.Thr6Asn Missense 1/1 -
18-44561619-G-A ELOA2 c.17C>T p.Thr6Ile Missense 1/1 -
9-139889216-T-G CLIC3 c.628A>C p.Met210Leu Missense 6/6 -
17-53077063-T-G STXBP4 c.358T>G p.Cys120Gly Missense 6/18 -
1-236923045-C-T ACTN2 c.2323C>T p.His775Tyr Missense 19/21 -
13-47354101-C-G ESD c.569G>C p.Gly190Ala Missense 8/10 -
X-153247926-G-A TMEM187 c.413G>A p.Arg138Gln Missense 2/2 -
15-40558482-A-G BUB1B-PAK6 c.644A>G p.His215Arg Missense 5/11 -
3-44762859-A-G ZNF502 c.550A>G p.Thr184Ala Missense 4/4 -
6-97052644-C-T FHL5 c.178C>T p.Arg60Trp Missense 4/7 -
2-70074757-A-C GMCL1 c.841A>C p.Lys281Gln Missense 7/14 -
1-110257831-T-C GSTM5 c.536T>C p.Leu179Pro Missense 7/8 -
17-48503723-C-T ACSF2 c.101C>T p.Ala34Val Missense 1/16 -
12-110352361-G-A TCHP c.1249G>A p.Glu417Lys Missense 11/13 -
5-134782252-G-T TIFAB c.*2892C>A - IntergenicSNV 2/2 -
3-149193623-C-T TM4SF4 c.188C>T p.Ala63Val Missense 2/5 -
3-49308808-C-T C3orf62 c.609G>A p.Met203Ile Missense 3/3 -
18-756674-C-G YES1 c.154G>C p.Val52Leu Missense 2/12 -
X-152159323-C-T PNMA5 c.820G>A p.Val274Met Missense 2/2 -
1-152487917-G-A CRCT1 c.58G>A p.Gly20Ser Missense 2/2 -
17-40722029-A-G MLX c.668A>G p.Gln223Arg Missense 7/8 -
9-97367786-C-T FBP1 c.778G>A p.Gly260Arg Missense 6/7 -
1-52732437-G-A ZFYVE9 c.2279-1698G>A - IntronicSNV - 5/17
1-52732437-G-C ZFYVE9 c.2279-1698G>C - IntronicSNV - 5/17
5-917145-G-A TRIP13 c.1226G>A p.Gly409Glu Missense 13/13 -
16-46712896-G-A VPS35 c.679C>T p.Leu227Phe Missense 6/17 -
X-52893843-T-A XAGE3 c.274A>T p.Ile92Phe Missense 4/5 -
13-48807588-C-T ITM2B c.92C>T p.Pro31Leu Missense 1/6 -
9-104125056-A-G BAAT c.911T>C p.Val304Ala Missense 4/4 -
11-32421544-A-G WT1 c.1012T>C - missense_variant 5/9 -
15-45361219-G-T SORD c.755G>T p.Gly252Val Missense 7/9 -
1-223116472-G-A DISP1 c.307G>A p.Glu103Lys Missense 4/10 -
2-48061736-T-C FBXO11 c.664A>G p.Ile222Val Missense 7/23 -
3-184910249-A-G EHHADH c.1649T>C p.Ile550Thr Missense 7/7 -
13-48807588-C-A ITM2B c.92C>A p.Pro31His Missense 1/6 -
17-66038248-G-A KPNA2 c.350G>A p.Arg117Gln Missense 5/11 -
1-16097059-G-A FBLIM1 c.697G>A p.Glu233Lys Missense 5/6 -
12-12871801-A-G CDKN1B c.518A>G p.Asn173Ser Missense 2/3 -
4-56319244-G-T CLOCK c.1183C>A p.Leu395Ile Missense 15/23 -
5-75001582-A-G POC5 c.179T>C p.Ile60Thr Missense 3/11 -
13-28141835-T-C LNX2 c.797A>G p.Tyr266Cys Missense 4/10 -
9-97367834-G-A FBP1 c.730C>T p.Arg244Trp Missense 6/7 -
6-36652228-G-A CDKN1A c.350G>A p.Cys117Tyr Missense 3/4 -
12-113867073-G-C SDSL c.323G>C p.Gly108Ala Missense 5/9 -
3-33906823-G-T PDCD6IP c.2348G>T p.Gly783Val Missense 17/18 -
1-223568624-A-G CCDC185 c.1807A>G p.Ser603Gly Missense 1/1 -
13-28143388-C-T LNX2 c.433G>A p.Val145Ile Missense 3/10 -
1-152785261-C-G LCE1B c.339C>G p.His113Gln Missense 1/1 -
2-220072431-C-A ZFAND2B c.212C>A p.Pro71His Missense 3/9 -
15-40498503-T-C BUB1B c.1853T>C p.Val618Ala Missense 15/23 -
2-219497011-C-A PLCD4 c.1425C>A p.Asn475Lys Missense 10/16 -
11-6630846-T-C ILK c.832T>C p.Tyr278His Missense 9/13 -
11-6630846-T-A ILK c.832T>A p.Tyr278Asn Missense 9/13 -
21-31692277-G-T KRTAP26-1 c.77C>A p.Ser26Tyr Missense 1/1 -
19-48537550-C-A CABP5 c.418G>T p.Glu140* Nonsense 5/6 -
1-211652466-C-T RD3 c.500G>A p.Arg167Lys Missense 3/3 -
16-129562-C-A MPG c.163C>A p.Arg55Ser Missense 2/4 -
16-129562-C-T MPG c.163C>T p.Arg55Cys Missense 2/4 -
20-5098283-T-C PCNA c.415A>G p.Met139Val Missense 5/7 -
9-140109141-C-T NDOR1 c.842C>T p.Pro281Leu Missense 7/14 -
17-37900864-C-T GRB7 c.860C>T p.Thr287Met Missense 8/15 -
9-34610915-C-T RPP25L c.379G>A p.Asp127Asn Missense 2/2 -
22-24236972-A-C MIF c.122A>C p.His41Pro Missense 2/3 -
X-152160081-A-T PNMA5 c.62T>A p.Leu21Gln Missense 2/2 -
8-16026259-A-G MSR1 c.338T>C p.Val113Ala Missense 4/9 -
17-44249199-T-G KANSL1 c.311A>C p.Lys104Thr Missense 2/15 -
7-143080060-A-T ZYX c.668A>T p.His223Leu Missense 5/10 -
10-81926702-G-A ANXA11 c.688C>T p.Arg230Cys Missense 8/17 -
9-139266496-C-A CARD9 c.35G>T p.Ser12Ile Missense 2/13 -
22-21354595-C-A THAP7 c.504G>T p.Glu168Asp Missense 4/4 -
X-48207029-C-A SSX3 c.477G>T p.Arg159Ser Missense 7/8 -
3-145917761-T-C PLSCR4 c.463A>G p.Ile155Val Missense 6/9 -
12-56602002-C-T RNF41 c.443G>A p.Arg148His Missense 5/7 -
10-124713673-C-G C10orf88 c.22G>C p.Gly8Arg Missense 1/6 -
6-36653548-C-T CDKN1A c.466C>T p.Arg156Trp Missense 4/4 -
6-36653548-C-G CDKN1A c.466C>G p.Arg156Gly Missense 4/4 -
12-7080187-C-G EMG1 c.101C>G p.Ala34Gly Missense 1/7 -
1-15545913-A-T TMEM51 c.436A>T p.Arg146Trp Missense 3/3 -
2-28081344-C-T RBKS c.184G>A p.Ala62Thr Missense 2/8 -
20-60883191-C-T ADRM1 c.854C>T p.Ala285Val Missense 7/9 -
X-112048284-G-A AMOT c.440C>T p.Ala147Val Missense 6/12 -
12-53699765-G-A C12orf10 c.563G>A p.Arg188Gln Missense 4/7 -
1-20944963-G-A CDA c.343G>A p.Val115Met Missense 4/4 -
2-70057206-A-C GMCL1 c.182A>C p.Tyr61Ser Missense 1/14 -
17-46929982-A-G CALCOCO2 c.817A>G p.Thr273Ala Missense 8/13 -
14-96178130-C-T TCL1A c.307G>A p.Val103Met Missense 3/4 -
14-96178130-C-A TCL1A c.307G>T p.Val103Leu Missense 3/4 -
X-149013071-C-T MAGEA8 c.25C>T p.Arg9Cys Missense 3/3 -
11-112101362-C-T PTS c.200C>T p.Thr67Met Missense 4/6 -
10-14939212-G-C SUV39H2 c.365G>C p.Ser122Thr Missense 2/5 -
13-52603194-G-T ALG11 c.*468G>T - 3-UTRSNV 4/4 -
22-22322028-G-A TOP3B c.799C>T p.Arg267Trp Missense 8/18 -
17-42429903-C-A GRN c.1608C>A p.Asp536Glu Missense 12/13 -
17-42429903-C-T GRN c.1608C>T p.Asp536Asp Synonymous 12/13 -
11-1298304-T-C TOLLIP c.790A>G p.Ile264Val Missense 6/6 -
6-97058547-A-C FHL5 c.604A>C p.Met202Leu Missense 6/7 -
5-74998501-C-T POC5 c.367G>A p.Asp123Asn Missense 4/11 -
19-46417875-C-T NANOS2 c.77G>A p.Arg26Gln Missense 1/1 -
19-46417875-C-G NANOS2 c.77G>C p.Arg26Pro Missense 1/1 -
15-90903502-G-A ZNF774 c.439G>A p.Val147Ile Missense 4/4 -
11-65714583-A-T TSGA10IP c.287A>T p.His96Leu Missense 3/8 -
19-375735-T-C THEG c.236A>G p.Asp79Gly Missense 1/8 -
2-95542413-G-A TEKT4 c.1207G>A p.Asp403Asn Missense 6/6 -
10-106039185-A-G GSTO2 c.424A>G p.Asn142Asp Missense 5/7 -
9-35107740-C-T FAM214B c.532G>A p.Ala178Thr Missense 3/9 -
3-37089130-A-G MLH1 c.1852A>G p.Lys618Glu Missense 16/19 -
6-34498120-A-G PACSIN1 c.889A>G p.Met297Val Missense 7/10 -
19-9449242-T-G ZNF559-ZNF177 c.-407T>G - 5_prime_UTR_variant 3/12 -
2-95537514-C-T TEKT4 c.190C>T p.Arg64Trp Missense 1/6 -
1-182353805-C-T GLUL c.857G>A p.Arg286His Missense 8/8 -
1-182353805-C-A GLUL c.857G>T p.Arg286Leu Missense 8/8 -
16-11643569-C-T LITAF c.410G>A p.Cys137Tyr Missense 4/4 -
22-19951103-G-A COMT c.304G>A p.Ala102Thr Missense 4/6 -
10-95278683-G-A CEP55 c.1043G>A p.Arg348Lys Missense 7/9 -
19-13996810-T-C C19orf57 c.1727A>G p.Asn576Ser Missense 7/8 -
18-2595443-G-T NDC80 c.1044G>T p.Glu348Asp Missense 11/17 -
3-37089037-A-G MLH1 c.1759A>G p.Met587Val Missense 16/19 -
3-180327473-G-C TTC14 c.1456G>C p.Glu486Gln Missense 12/12 -
14-20781947-C-T CCNB1IP1 c.311G>A p.Arg104His Missense 6/7 -
17-46052883-G-A CDK5RAP3 c.517G>A p.Glu173Lys Missense 7/14 -
4-4276198-C-T LYAR c.728G>A p.Gly243Asp Missense 7/10 -
4-4276198-C-A LYAR c.728G>T p.Gly243Val Missense 7/10 -
5-78421959-G-A BHMT c.716G>A p.Arg239Gln Missense 6/8 -
8-103564221-G-T ODF1 c.266G>T p.Ser89Ile Missense 1/2 -
18-47918537-G-A SKA1 c.688G>A p.Val230Met Missense 7/7 -
2-171822525-C-T GORASP2 c.1040C>T p.Thr347Met Missense 10/10 -
1-182357821-T-G GLUL c.52A>C p.Met18Leu Missense 3/8 -
6-42930512-C-G GNMT c.347C>G p.Ala116Gly Missense 3/6 -
8-66534525-A-G ARMC1 c.248T>C p.Met83Thr Missense 3/7 -
12-99020373-C-T IKBIP c.469G>A p.Asp157Asn Missense 3/3 -
12-99020373-C-A IKBIP c.469G>T p.Asp157Tyr Missense 3/3 -
1-60287549-C-T HOOK1 c.83C>T p.Ala28Val Missense 2/22 -
16-84778685-A-G USP10 c.610A>G p.Met204Val Missense 5/15 -
17-33446143-C-G RAD51D c.131G>C p.Gly44Ala Missense 2/10 -
17-33446143-C-T RAD51D c.131G>A p.Gly44Asp Missense 2/10 -
1-60338579-A-G HOOK1 c.2129A>G p.His710Arg Missense 22/22 -
11-66204624-G-A MRPL11 c.424C>T p.Arg142Cys Missense 4/5 -
1-154919080-C-T PBXIP1 c.1070G>A p.Gly357Asp Missense 10/11 -
15-41605529-A-T OIP5 c.536T>A p.Ile179Lys Missense 4/5 -
7-152346007-C-T XRCC2 c.563G>A p.Arg188His Missense 3/3 -
7-152346007-C-G XRCC2 c.563G>C p.Arg188Pro Missense 3/3 -
14-94510330-G-A OTUB2 c.232G>A p.Val78Ile Missense 4/6 -
8-90784979-T-C RIPK2 c.776T>C p.Ile259Thr Missense 6/11 -
11-103908517-G-A DDI1 c.967G>A p.Asp323Asn Missense 1/1 -
1-151140742-C-T SCNM1 c.521C>T p.Ala174Val Missense 6/7 -
6-117923294-C-T GOPC c.158G>A p.Gly53Glu Missense 1/9 -
13-50205025-T-C ARL11 c.442T>C p.Cys148Arg Missense 2/2 -
5-150431808-G-T TNIP1 c.640C>A p.Gln214Lys Missense 7/18 -
12-53344167-G-A KRT18 c.473G>A p.Arg158His Missense 3/8 -
17-39137387-C-T KRT40 c.704G>A p.Arg235His Missense 6/9 -
1-223116474-G-T DISP1 c.309G>T p.Glu103Asp Missense 4/10 -
14-20784560-A-C CCNB1IP1 c.123T>G p.Phe41Leu Missense 5/7 -
12-52881632-C-A KRT6A c.1567G>T p.Val523Phe Missense 9/9 -
11-61675714-T-C RAB3IL1 c.76A>G p.Thr26Ala Missense 2/10 -
1-60314790-G-C HOOK1 c.1177G>C p.Asp393His Missense 12/22 -
1-60314790-G-T HOOK1 c.1177G>T p.Asp393Tyr Missense 12/22 -
2-25674488-T-C DTNB c.1186A>G p.Ser396Gly Missense 12/20 -
1-169823707-G-A SCYL3 c.1873C>T p.Leu625Phe Missense 13/14 -
8-103564006-G-C ODF1 c.51G>C p.Lys17Asn Missense 1/2 -
7-5568097-C-G ACTB c.617G>C p.Arg206Pro Missense 4/6 -
22-42912106-C-T RRP7A c.253G>A p.Val85Ile Missense 3/7 -
22-42912106-C-G RRP7A c.253G>C p.Val85Leu Missense 3/7 -
19-9267319-G-T ZNF317 c.57G>T p.Gln19His Missense 3/7 -
4-110618915-A-C CASP6 c.93T>G p.Phe31Leu Missense 3/7 -
2-231333763-A-G SP100 c.1297A>G p.Met433Val Missense 14/25 -
7-143000954-G-A CASP2 c.1045G>A p.Gly349Ser Missense 9/11 -
7-143000954-G-C CASP2 c.1045G>C p.Gly349Arg Missense 9/11 -
2-39008801-T-G GEMIN6 c.271T>G p.Cys91Gly Missense 3/3 -
X-152159362-T-C PNMA5 c.781A>G p.Thr261Ala Missense 2/2 -
X-152159362-T-A PNMA5 c.781A>T p.Thr261Ser Missense 2/2 -
19-9267319-G-A ZNF317 c.57G>A p.Gln19Gln Synonymous 3/7 -
3-37089130-A-T MLH1 c.1852A>T p.Lys618* Nonsense 16/19 -
9-135668127-G-A AK8 c.1015C>T p.Arg339Cys Missense 11/13 -
12-52882292-C-T KRT6A c.1244G>A p.Arg415His Missense 7/9 -
12-52882292-C-A KRT6A c.1244G>T p.Arg415Leu Missense 7/9 -
3-12421238-C-G PPARG c.34C>G p.Pro12Ala Missense 2/7 -
11-77932758-C-T GAB2 c.1726G>A p.Asp576Asn Missense 8/10 -
19-44612231-A-G ZNF224 c.1918A>G p.Lys640Glu Missense 6/6 -
7-148873652-G-A ZNF398 c.241G>A p.Val81Met Missense 6/7 -
1-154962679-G-A FLAD1 c.1310G>A p.Arg437His Missense 4/7 -
X-38156584-T-C RPGR c.1367A>G p.Gln456Arg Missense 11/19 -
5-79616936-A-C SPZ1 c.902A>C p.His301Pro Missense 1/1 -
1-19609295-G-A AKR7A3 c.926C>T p.Pro309Leu Missense 7/7 -
18-48581261-C-A SMAD4 c.565C>A p.Arg189Ser Missense 5/12 -
18-48581261-C-G SMAD4 c.565C>G p.Arg189Gly Missense 5/12 -
18-48581261-C-T SMAD4 c.565C>T p.Arg189Cys Missense 5/12 -
12-31944944-G-A H3F3C c.157C>T p.Arg53Cys Missense 1/1 -
12-31944944-G-C H3F3C c.157C>G p.Arg53Gly Missense 1/1 -
12-31944944-G-T H3F3C c.157C>A p.Arg53Ser Missense 1/1 -
19-48543906-G-T CABP5 c.194C>A p.Thr65Lys Missense 3/6 -
19-48543906-G-C CABP5 c.194C>G p.Thr65Arg Missense 3/6 -
19-48543906-G-A CABP5 c.194C>T p.Thr65Met Missense 3/6 -
13-21742311-C-T SKA3 c.559G>A p.Val187Ile Missense 4/9 -
13-50205025-T-G ARL11 c.442T>G p.Cys148Gly Missense 2/2 -
8-146278038-G-T C8orf33 c.73G>T p.Gly25* Nonsense 2/5 -
8-146278038-G-A C8orf33 c.73G>A p.Gly25Arg Missense 2/5 -
17-39034610-G-T KRT20 c.926C>A p.Ser309Tyr Missense 6/8 -
12-122353796-A-C PSMD9 c.590A>C p.Glu197Ala Missense 5/6 -
3-49760431-G-C GMPPB c.376C>G p.His126Asp Missense 4/8 -
3-49760431-G-A GMPPB c.376C>T p.His126Tyr Missense 4/8 -
12-44161972-A-T IRAK4 c.58A>T p.Arg20Trp Missense 3/13 -
7-56087413-A-G PSPH c.155T>C p.Met52Thr Missense 5/8 -
11-34904972-T-C APIP c.541A>G p.Met181Val Missense 6/7 -
14-55611955-T-G LGALS3 c.719T>G p.Ile240Arg Missense 6/6 -
14-55611955-T-C LGALS3 c.719T>C p.Ile240Thr Missense 6/6 -
17-7529901-C-T SAT2 c.377G>A p.Arg126His Missense 6/6 -
17-7529901-C-A SAT2 c.377G>T p.Arg126Leu Missense 6/6 -
8-27679981-T-C PBK c.320A>G p.Asn107Ser Missense 5/8 -
17-39140183-C-T KRT40 c.343G>A p.Ala115Thr Missense 3/9 -
20-45318031-G-A TP53RK c.23C>T p.Thr8Met Missense 1/2 -
6-30126285-C-T TRIM10 c.647G>A p.Arg216Lys Missense 3/7 -
16-85711927-A-G GINS2 c.449T>C p.Leu150Ser Missense 5/5 -
5-56558504-C-G GPBP1 c.1347C>G p.Ser449Arg Missense 12/12 -
17-39156084-T-C KRTAP3-2 c.22A>G p.Ser8Gly Missense 1/1 -
17-39156084-T-G KRTAP3-2 c.22A>C p.Ser8Arg Missense 1/1 -
5-148695816-T-C AFAP1L1 c.1217T>C p.Leu406Pro Missense 11/19 -
17-7130842-C-T DVL2 c.1244G>A p.Arg415Gln Missense 12/15 -
19-10677955-C-T CDKN2D c.280G>A p.Val94Met Missense 3/3 -
12-44161948-C-T IRAK4 c.34C>T p.Arg12Cys Missense 3/13 -
17-28601118-A-G BLMH c.743T>C p.Ile248Thr Missense 7/12 -
10-135053784-A-G VENTX c.751A>G p.Met251Val Missense 3/3 -
12-58143021-G-T CDK4 c.763C>A p.Arg255Ser Missense 7/8 -
12-58143021-G-A CDK4 c.763C>T p.Arg255Cys Missense 7/8 -
17-79994265-G-A DCXR c.502C>T p.His168Tyr Missense 6/8 -
12-58143020-C-T CDK4 c.764G>A p.Arg255His Missense 7/8 -
1-15546040-A-G TMEM51 c.563A>G p.Asp188Gly Missense 3/3 -
12-12871765-C-G CDKN1B c.482C>G p.Ser161Cys Missense 2/3 -
5-134782396-T-A TIFAB c.*2748A>T - IntergenicSNV 2/2 -
16-57283730-G-A ARL2BP c.259G>A p.Glu87Lys Missense 4/6 -
8-11301625-C-T FAM167A c.296G>A p.Ser99Asn Missense 2/3 -
8-11301625-C-G FAM167A c.296G>C p.Ser99Thr Missense 2/3 -
6-34496473-A-G PACSIN1 c.275A>G p.Asp92Gly Missense 4/10 -
20-48522392-G-A SPATA2 c.1327C>T p.Leu443Phe Missense 3/3 -
3-58553075-T-C FAM107A c.187A>G p.Ser63Gly Missense 4/5 -
3-58553075-T-G FAM107A c.187A>C p.Ser63Arg Missense 4/5 -
X-37932876-G-A SYTL5 c.479G>A p.Arg160His Missense 5/17 -
4-169083694-A-C ANXA10 c.211A>C p.Met71Leu Missense 4/12 -
2-95542326-A-G TEKT4 c.1120A>G p.Met374Val Missense 6/6 -
15-101832180-C-T SNRPA1 c.296G>A p.Ser99Asn Missense 3/9 -
2-225378348-T-C CUL3 c.349A>G p.Ile117Val Missense 4/15 -
4-104012365-A-G BDH2 c.326T>C p.Met109Thr Missense 5/10 -
5-99871518-A-G FAM174A c.284A>G p.Asp95Gly Missense 1/3 -
21-46086377-A-G TSPEAR c.82+44971T>C - IntronicSNV - 1/11
21-46086377-A-C TSPEAR c.82+44971T>G - IntronicSNV - 1/11
21-46086377-A-T TSPEAR c.82+44971T>A - IntronicSNV - 1/11
17-39135084-A-G KRT40 c.1168T>C p.Trp390Arg Missense 8/9 -
13-52603266-T-A ALG11 c.*540T>A - 3-UTRSNV 4/4 -
13-21732175-G-C SKA3 c.1005C>G p.Asp335Glu Missense 7/9 -
13-37580078-C-A EXOSC8 c.260C>A p.Pro87His Missense 6/11 -
7-142988644-T-A CASP2 c.86T>A p.Val29Glu Missense 2/11 -
2-198363548-G-C HSPD1 c.25C>G p.Arg9Gly Missense 2/12 -
17-66039095-C-T KPNA2 c.646C>T p.Pro216Ser Missense 6/11 -
21-37518706-G-A CBR3 c.730G>A p.Val244Met Missense 3/3 -
13-52603679-A-G ALG11 c.*953A>G - 3-UTRSNV 4/4 -
17-7137424-G-C DVL2 c.158C>G p.Ala53Gly Missense 1/15 -
11-34988354-A-G PDHX c.809A>G p.Asn270Ser Missense 6/11 -
6-41884544-C-T MED20 c.148G>A p.Ala50Thr Missense 2/4 -
6-41884544-C-A MED20 c.148G>T p.Ala50Ser Missense 2/4 -
15-90903611-A-C ZNF774 c.548A>C p.Glu183Ala Missense 4/4 -
11-18421014-G-A LDHA c.163G>A p.Glu55Lys Missense 3/8 -
19-49316795-T-C HSD17B14 c.557A>G p.Asn186Ser Missense 8/9 -
1-155300291-G-T RUSC1 c.2638G>T p.Asp880Tyr Missense 10/10 -
12-44148901-T-C PUS7L c.148A>G p.Ile50Val Missense 2/9 -
19-58773189-A-C ZNF544 c.1217A>C p.Lys406Thr Missense 7/7 -
6-159407447-G-C RSPH3 c.637C>G p.Arg213Gly Missense 3/8 -
11-73122521-G-C FAM168A c.338C>G p.Pro113Arg Missense 5/8 -
9-35079502-G-A FANCG c.20C>T p.Ser7Phe Missense 1/14 -
16-88066717-C-T BANP c.949C>T p.Pro317Ser Missense 8/12 -
2-175939488-G-A ATF2 c.1367C>T p.Ser456Leu Missense 14/14 -
17-66036837-A-G KPNA2 c.257A>G p.Asn86Ser Missense 4/11 -
15-43483843-T-C CCNDBP1 c.830T>C p.Ile277Thr Missense 8/11 -
2-105979900-C-T FHL2 c.530G>A p.Arg177Gln Missense 6/7 -
19-49469093-G-A FTL c.169G>A p.Glu57Lys Missense 2/4 -
11-18424407-G-T LDHA c.439G>T p.Ala147Ser Missense 5/8 -
X-38156660-T-A RPGR c.1291A>T p.Ile431Leu Missense 11/19 -
3-37061893-T-A MLH1 c.977T>A p.Val326Glu Missense 11/19 -
3-37061893-T-C MLH1 c.977T>C p.Val326Ala Missense 11/19 -
1-24122482-C-T GALE c.1004G>A p.Arg335His Missense 12/12 -
1-24122482-C-G GALE c.1004G>C p.Arg335Pro Missense 12/12 -
7-92244486-T-C CDK6 c.949A>G p.Ser317Gly Missense 8/8 -
7-92244486-T-G CDK6 c.949A>C p.Ser317Arg Missense 8/8 -
19-375855-C-T THEG c.116G>A p.Ser39Asn Missense 1/8 -
12-124107280-G-T EIF2B1 c.656C>A p.Ala219Asp Missense 8/9 -
22-39918517-G-C ATF4 c.966G>C p.Glu322Asp Missense 2/2 -
3-49716357-T-C APEH c.1133T>C p.Phe378Ser Missense 12/22 -
7-38475878-C-G AMPH c.1128G>C p.Met376Ile Missense 12/21 -
7-38475878-C-T AMPH c.1128G>A p.Met376Ile Missense 12/21 -
6-170862300-G-C PSMB1 c.31C>G p.Pro11Ala Missense 1/6 -
2-95540570-C-G TEKT4 c.763C>G p.Arg255Gly Missense 4/6 -
1-155296421-G-A RUSC1 c.1912G>A p.Gly638Ser Missense 8/10 -
11-44089352-G-A ACCS c.175G>A p.Asp59Asn Missense 2/15 -
16-3085326-C-G BICDL2 c.172G>C p.Glu58Gln Missense 1/9 -
17-79993919-C-T DCXR c.646G>A p.Ala216Thr Missense 8/8 -
1-170007449-C-T KIFAP3 c.499G>A p.Glu167Lys Missense 5/20 -
3-137483946-C-G SOX14 c.320C>G p.Ala107Gly Missense 1/1 -
3-137483946-C-A SOX14 c.320C>A p.Ala107Glu Missense 1/1 -
6-42931103-T-C GNMT c.632T>C p.Ile211Thr Missense 5/6 -
X-38156660-T-C RPGR c.1291A>G p.Ile431Val Missense 11/19 -
10-135125249-G-A ZNF511 c.584G>A p.Ser195Asn Missense 5/6 -
9-123675629-G-A TRAF1 c.682C>T p.Arg228Cys Missense 5/8 -
5-56542905-A-G GPBP1 c.667A>G p.Thr223Ala Missense 8/12 -
15-40512901-A-C BUB1B-PAK6 c.-201+3033A>C - intron_variant - 1/10
8-37996388-C-G ASH2L c.1774C>G p.Arg592Gly Missense 15/16 -
6-41903782-A-T CCND3 c.775T>A p.Ser259Thr Missense 5/5 -
2-95537568-C-G TEKT4 c.244C>G p.Arg82Gly Missense 1/6 -
6-37336947-G-C RNF8 c.928G>C p.Val310Leu Missense 3/8 -
10-118101700-C-G CCDC172 c.435C>G p.Asn145Lys Missense 5/9 -
6-36652067-C-A CDKN1A c.189C>A p.Phe63Leu Missense 3/4 -
10-45920506-G-C ALOX5 c.760G>C p.Glu254Gln Missense 6/14 -
10-45920506-G-A ALOX5 c.760G>A p.Glu254Lys Missense 6/14 -
17-56164549-A-G DYNLL2 c.98A>G p.Asn33Ser Missense 2/3 -
1-182356372-G-C GLUL c.222C>G p.Asn74Lys Missense 4/8 -
1-182356372-G-A GLUL c.222C>T p.Asn74Asn Synonymous 4/8 -
13-21742311-C-G SKA3 c.559G>C p.Val187Leu Missense 4/9 -
17-49233095-G-A NME1 c.80G>A p.Arg27His Missense 2/5 -
6-28251663-A-G PGBD1 c.73A>G p.Thr25Ala Missense 2/7 -
16-30545919-C-T ZNF747 c.82G>A p.Gly28Arg Missense 1/2 -
1-15546187-C-T TMEM51 c.710C>T p.Pro237Leu Missense 3/3 -
6-28264717-C-T PGBD1 c.767C>T p.Pro256Leu Missense 5/7 -
1-3807510-C-G C1orf174 c.241G>C p.Ala81Pro Missense 3/4 -
1-3807510-C-T C1orf174 c.241G>A p.Ala81Thr Missense 3/4 -
20-60883762-A-C ADRM1 c.1052A>C p.Lys351Thr Missense 9/9 -
1-91973914-A-T CDC7 c.295A>T p.Ile99Leu Missense 4/12 -
1-91973914-A-G CDC7 c.295A>G p.Ile99Val Missense 4/12 -
11-45975130-C-T PHF21A c.1043G>A p.Arg348His Missense 10/18 -
6-138196060-C-T TNFAIP3 c.374C>T p.Ala125Val Missense 3/9 -
17-46928952-G-A CALCOCO2 c.664G>A p.Glu222Lys Missense 7/13 -
6-41903782-A-C CCND3 c.775T>G p.Ser259Ala Missense 5/5 -
6-41903782-A-G CCND3 c.775T>C p.Ser259Pro Missense 5/5 -
5-78417158-G-A BHMT c.595G>A p.Gly199Ser Missense 5/8 -
12-53344142-A-G KRT18 c.448A>G p.Ile150Val Missense 3/8 -
1-213032149-CTG-TTT FLVCR1 c.355_357delCTGinsTTT p.Leu119Phe Missense 1/10 -
14-65007898-G-T HSPA2 c.331G>T p.Glu111* Nonsense 1/1 -
4-186425698-G-A PDLIM3 c.836C>T p.Thr279Met Missense 7/8 -
11-71259822-A-G KRTAP5-9 c.119A>G p.Tyr40Cys Missense 1/1 -
3-37067410-G-A MLH1 c.1321G>A p.Ala441Thr Missense 12/19 -
6-24781753-T-C GMNN c.178T>C p.Ser60Pro Missense 4/7 -
15-90902172-C-T ZNF774 c.194C>T p.Pro65Leu Missense 3/4 -
16-4835850-G-A SEPT12 c.332C>T p.Thr111Met Missense 4/10 -
16-4835850-G-T SEPT12 c.332C>A p.Thr111Lys Missense 4/10 -
9-139820309-G-A TRAF2 c.1462G>A p.Asp488Asn Missense 11/11 -
16-11647492-T-C LITAF c.274A>G p.Ile92Val Missense 3/4 -
6-28264681-G-A PGBD1 c.731G>A p.Gly244Glu Missense 5/7 -
5-78417152-C-T BHMT c.589C>T p.Pro197Ser Missense 5/8 -
7-139107009-A-C LUC7L2 c.1102A>C p.Lys368Gln Missense 10/10 -
4-54362515-C-T LNX1 c.1025G>A p.Arg342His Missense 6/11 -
2-171822576-C-T GORASP2 c.1091C>T p.Ser364Phe Missense 10/10 -
13-30804719-C-T KATNAL1 c.898G>A p.Ala300Thr Missense 8/11 -
3-56763584-T-C ARHGEF3 c.1295A>G p.Asn432Ser Missense 10/10 -
11-18528451-C-T TSG101 c.501G>A p.Met167Ile Missense 6/10 -
12-33049492-C-A PKP2 c.174G>T p.Glu58Asp Missense 1/14 -
4-169100440-T-C ANXA10 c.701T>C p.Phe234Ser Missense 9/12 -
10-97023630-T-C PDLIM1 c.524A>G p.Asn175Ser Missense 4/7 -
10-103113959-C-A BTRC c.22C>A p.Leu8Met Missense 1/15 -
3-105421032-C-T CBLB c.1865G>A p.Ser622Asn Missense 12/19 -
3-105421032-C-G CBLB c.1865G>C p.Ser622Thr Missense 12/19 -
X-44091828-C-G EFHC2 c.1519G>C p.Glu507Gln Missense 10/15 -
15-74948095-C-T EDC3 c.799G>A p.Val267Met Missense 4/7 -
5-137515500-C-T KIF20A c.131C>T p.Ser44Phe Missense 2/19 -
3-37081682-C-T MLH1 c.1564C>T p.Arg522Trp Missense 14/19 -
22-43010821-C-T POLDIP3 c.43G>A p.Ala15Thr Missense 1/9 -
12-122337626-C-A PSMD9 c.328C>A p.Arg110Arg Synonymous 3/6 -
19-17888954-A-G FCHO1 c.1268A>G p.Glu423Gly Missense 19/29 -
7-5567921-A-C ACTB c.793T>G p.Ser265Ala Missense 4/6 -
1-36605716-T-G TRAPPC3 c.94A>C p.Lys32Gln Missense 2/5 -
11-112104157-C-T PTS c.317C>T p.Thr106Met Missense 6/6 -
15-101833366-G-A SNRPA1 c.94C>T p.Pro32Ser Missense 2/9 -
5-137465138-C-T NME5 c.149G>A p.Ser50Asn Missense 3/6 -
7-144380023-A-G TPK1 c.164T>C p.Ile55Thr Missense 4/9 -
1-46685792-A-G LURAP1 c.620A>G p.Gln207Arg Missense 2/2 -
12-122337698-C-T PSMD9 c.400C>T p.Arg134Trp Missense 3/6 -
10-103113959-C-T BTRC c.22C>T p.Leu8Leu Synonymous 1/15 -
18-52605235-G-C CCDC68 c.298C>G p.Leu100Val Missense 5/12 -
6-33541983-T-A BAK1 c.359A>T p.Glu120Val Missense 5/6 -
19-10678035-G-C CDKN2D c.200C>G p.Pro67Arg Missense 3/3 -
20-45315769-T-C TP53RK c.385A>G p.Thr129Ala Missense 2/2 -
3-37081682-C-G MLH1 c.1564C>G p.Arg522Gly Missense 14/19 -
1-3807507-A-C C1orf174 c.244T>G p.Ser82Ala Missense 3/4 -
8-59488589-A-G SDCBP c.371A>G p.Lys124Arg Missense 5/9 -
12-122337626-C-T PSMD9 c.328C>T p.Arg110Trp Missense 3/6 -
14-23829369-G-T EFS c.140C>A p.Ala47Asp Missense 2/6 -
2-56145171-T-G EFEMP1 c.146A>C p.Asp49Ala Missense 5/12 -
1-54477843-C-T LDLRAD1 c.313G>A p.Gly105Ser Missense 4/6 -
6-136677899-G-A MAP7 c.1946C>T p.Pro649Leu Missense 16/18 -
6-136677899-G-C MAP7 c.1946C>G p.Pro649Arg Missense 16/18 -
10-103294560-A-G BTRC c.1240A>G p.Thr414Ala Missense 10/15 -
10-43678796-C-T CSGALNACT2 c.1435C>T p.Pro479Ser Missense 8/8 -
17-39137154-C-G KRT40 c.858G>C p.Glu286Asp Missense 7/9 -
19-54662043-C-T LENG1 c.289G>A p.Glu97Lys Missense 2/4 -
8-95272605-G-T GEM c.127C>A p.Arg43Ser Missense 2/5 -
3-127398955-G-A ABTB1 c.1157G>A p.Arg386His Missense 11/12 -
17-73126653-C-A NT5C c.416G>T p.Arg139Leu Missense 4/4 -
19-36530343-C-G THAP8 c.554G>C p.Arg185Pro Missense 3/4 -
19-36530343-C-T THAP8 c.554G>A p.Arg185Gln Missense 3/4 -
2-171822603-C-G GORASP2 c.1118C>G p.Ser373Cys Missense 10/10 -
11-77931456-C-G GAB2 c.1796G>C p.Gly599Ala Missense 9/10 -
12-12871237-C-A CDKN1B c.464C>A p.Pro155His Missense 1/3 -
17-49233067-C-T NME1 c.52C>T p.Arg18Trp Missense 2/5 -
17-56429469-G-A SUPT4H1 c.28C>T p.Leu10Leu Synonymous 1/5 -
5-71739825-C-G ZNF366 c.1993G>C p.Glu665Gln Missense 5/5 -
17-46262171-C-T SKAP1 c.481G>A p.Gly161Ser Missense 7/13 -
17-56164541-G-C DYNLL2 c.90G>C p.Glu30Asp Missense 2/3 -
21-44486463-G-C CBS c.341C>G p.Ala114Gly Missense 5/17 -
21-44486463-G-A CBS c.341C>T p.Ala114Val Missense 5/17 -
11-65714925-C-T TSGA10IP c.629C>T p.Ala210Val Missense 3/8 -
11-6631029-C-T ILK c.931C>T p.Leu311Leu Synonymous 10/13 -
11-6631029-C-A ILK c.931C>A p.Leu311Ile Missense 10/13 -
11-47203983-G-A PACSIN3 c.182C>T p.Ala61Val Missense 4/11 -
17-56429469-G-C SUPT4H1 c.28C>G p.Leu10Val Missense 1/5 -
5-137454567-T-C NME5 c.495A>G p.Ile165Met Missense 5/6 -
5-71739825-C-T ZNF366 c.1993G>A p.Glu665Lys Missense 5/5 -
6-122733526-A-G HSF2 c.102A>G p.Gln34Gln Synonymous 2/13 -
18-32920361-G-A ZNF24 c.254C>T p.Thr85Met Missense 2/4 -
16-69875981-G-A WWP2 c.533G>A p.Arg178Gln Missense 7/25 -
11-103907809-C-T DDI1 c.259C>T p.Arg87Cys Missense 1/1 -
9-129595239-C-G ZBTB43 c.451C>G p.Leu151Val Missense 2/2 -
11-65715210-G-C TSGA10IP c.914G>C p.Arg305Pro Missense 3/8 -
19-36530428-G-A THAP8 c.469C>T p.Pro157Ser Missense 3/4 -
3-119222842-C-G TIMMDC1 c.491C>G p.Ala164Gly Missense 4/7 -
7-143080060-A-G ZYX c.668A>G p.His223Arg Missense 5/10 -
6-130415458-C-T L3MBTL3 c.1682C>T p.Pro561Leu Missense 18/23 -
8-102555474-A-G GRHL2 c.26A>G p.Lys9Arg Missense 2/16 -
8-102555474-A-T GRHL2 c.26A>T p.Lys9Ile Missense 2/16 -
18-44560732-C-G ELOA2 c.904G>C p.Asp302His Missense 1/1 -
X-48054735-C-A SSX5 c.60G>T p.Lys20Asn Missense 2/9 -
X-48054735-C-G SSX5 c.60G>C p.Lys20Asn Missense 2/9 -
2-181922523-T-A UBE2E3 c.349T>A p.Ser117Thr Missense 4/6 -
12-12871765-C-T CDKN1B c.482C>T p.Ser161Phe Missense 2/3 -
19-35175877-G-T ZNF302 c.935G>T p.Arg312Leu Missense 5/5 -
1-28657228-A-G MED18 c.55A>G p.Met19Val Missense 2/3 -
3-37053550-G-T MLH1 c.637G>T p.Val213Leu Missense 8/19 -
19-48342796-G-A CRX c.472G>A p.Ala158Thr Missense 4/4 -
3-32586499-A-G DYNC1LI1 c.437T>C p.Val146Ala Missense 4/13 -
6-24515423-G-T ALDH5A1 c.755G>T p.Gly252Val Missense 5/10 -
14-75470349-C-T EIF2B2 c.380C>T p.Ala127Val Missense 3/8 -
6-1961185-C-T GMDS c.271G>A p.Ala91Thr Missense 5/11 -
1-160254899-C-T PEX19 c.16G>A p.Glu6Lys Missense 1/8 -
11-67414492-C-T ACY3 c.23G>A p.Arg8Gln Missense 3/8 -
11-66109687-T-C BRMS1 c.19A>G p.Ser7Gly Missense 2/10 -
12-119866533-A-G CCDC60 c.136A>G p.Ile46Val Missense 2/14 -
2-74074603-G-T STAMBP c.465G>T p.Gln155His Missense 6/11 -
11-499944-G-A RNH1 c.328C>T p.Arg110Cys Missense 4/10 -
14-75470349-C-G EIF2B2 c.380C>G p.Ala127Gly Missense 3/8 -
6-33543117-G-A BAK1 c.308C>T p.Thr103Met Missense 4/6 -
X-38163917-C-T RPGR c.905G>A p.Cys302Tyr Missense 8/19 -
11-64787966-C-T ARL2 c.415C>T p.Arg139Cys Missense 4/5 -
6-97058553-A-G FHL5 c.610A>G p.Arg204Gly Missense 6/7 -
19-15794415-C-T CYP4F12 c.760C>T p.Arg254Trp Missense 7/13 -
19-15794415-C-A CYP4F12 c.760C>A p.Arg254Arg Synonymous 7/13 -
21-44474003-C-T CBS c.1643G>A p.Arg548Gln Missense 17/17 -
4-122078317-T-C TNIP3 c.295A>G p.Lys99Glu Missense 4/11 -
12-53225239-C-A KRT79 c.649G>T p.Asp217Tyr Missense 2/9 -
7-143086010-C-T ZYX c.1465C>T p.Arg489Trp Missense 8/10 -
21-16339360-T-A NRIP1 c.1154A>T p.Lys385Ile Missense 4/4 -
10-91065949-A-C IFIT2 c.236A>C p.Glu79Ala Missense 2/2 -
10-91065949-A-G IFIT2 c.236A>G p.Glu79Gly Missense 2/2 -
9-116029692-C-G CDC26 c.109G>C p.Glu37Gln Missense 4/4 -
17-26900817-T-C ALDOC c.935A>G p.Asn312Ser Missense 8/9 -
10-103310574-C-A BTRC c.1775C>A p.Pro592His Missense 14/15 -
10-103310574-C-G BTRC c.1775C>G p.Pro592Arg Missense 14/15 -
12-118463608-T-G RFC5 c.638T>G p.Met213Arg Missense 7/11 -
12-53227957-G-A KRT79 c.88C>T p.Arg30Cys Missense 1/9 -
3-52021205-T-C ACY1 c.700T>C p.Trp234Arg Missense 10/15 -
16-71604689-C-T TAT c.805G>A p.Asp269Asn Missense 8/12 -
15-83428192-C-T FSD2 c.2158G>A p.Glu720Lys Missense 13/13 -
12-6435693-C-T PLEKHG6 c.1624C>T p.Pro542Ser Missense 14/16 -
6-33423395-C-T ZBTB9 c.518C>T p.Ser173Phe Missense 2/2 -
1-152785170-G-A LCE1B c.248G>A p.Arg83His Missense 1/1 -
10-103310574-C-T BTRC c.1775C>T p.Pro592Leu Missense 14/15 -
19-13054563-G-C CALR c.1090G>C p.Glu364Gln Missense 9/9 -
8-42226805-C-G POLB c.725C>G p.Pro242Arg Missense 12/14 -
16-418597-G-C MRPL28 c.480C>G p.Asp160Glu Missense 4/6 -
1-909238-G-C PLEKHN1 c.1460G>C p.Arg487Pro Missense 14/16 -
12-56601490-C-T RNF41 c.542G>A p.Arg181His Missense 6/7 -
15-74925132-C-T EDC3 c.1348G>A p.Glu450Lys Missense 7/7 -
19-49318380-G-T HSD17B14 c.388C>A p.Arg130Arg Synonymous 6/9 -
19-49318380-G-A HSD17B14 c.388C>T p.Arg130Trp Missense 6/9 -
2-198641827-C-T BOLL c.232G>A p.Val78Ile Missense 4/11 -
20-1293046-G-C SDCBP2 c.667C>G p.Arg223Gly Missense 7/9 -
1-24122673-C-T GALE c.956G>A p.Gly319Glu Missense 11/12 -
1-20931468-C-T CDA c.202C>T p.Arg68Trp Missense 2/4 -
3-10183758-T-C VHL c.227T>C p.Phe76Ser Missense 1/3 -
3-10183758-T-A VHL c.227T>A p.Phe76Tyr Missense 1/3 -
3-10183758-T-G VHL c.227T>G p.Phe76Cys Missense 1/3 -
19-48789566-G-A ZNF114 c.685G>A p.Ala229Thr Missense 6/6 -
19-45150614-G-A PVR c.199G>A p.Ala67Thr Missense 2/8 -
13-21732175-G-T SKA3 c.1005C>A p.Asp335Glu Missense 7/9 -
16-4827944-G-C SEPT12 c.931C>G p.Arg311Gly Missense 10/10 -
14-65009287-C-T HSPA2 c.1720C>T p.Leu574Phe Missense 1/1 -
14-65009287-C-G HSPA2 c.1720C>G p.Leu574Val Missense 1/1 -
19-12691634-C-G ZNF490 c.1255G>C p.Glu419Gln Missense 5/5 -
19-12691634-C-T ZNF490 c.1255G>A p.Glu419Lys Missense 5/5 -
17-39521176-T-C KRT33B c.952A>G p.Ile318Val Missense 6/7 -
2-70082038-A-G GMCL1 c.1018A>G p.Ile340Val Missense 9/14 -
11-47178652-C-T C11orf49 c.530C>T p.Ser177Leu Missense 6/9 -
2-25457176-G-C DNMT3A c.2711C>G p.Pro904Arg Missense 23/23 -
2-25457176-G-A DNMT3A c.2711C>T p.Pro904Leu Missense 23/23 -
2-25457176-G-T DNMT3A c.2711C>A p.Pro904Gln Missense 23/23 -
16-4829726-A-T SEPT12 c.788T>A p.Val263Asp Missense 8/10 -
1-154960891-G-A FLAD1 c.683G>A p.Arg228His Missense 2/7 -
1-94037330-G-A BCAR3 c.1871C>T p.Ala624Val Missense 11/14 -
9-139814840-A-C TRAF2 c.833A>C p.Lys278Thr Missense 8/11 -
9-97329625-C-T FBP2 c.632G>A p.Ser211Asn Missense 5/7 -
19-2321758-C-G LSM7 c.233G>C p.Gly78Ala Missense 4/4 -
11-34909969-C-A APIP c.332G>T p.Gly111Val Missense 5/7 -
17-37901569-C-T GRB7 c.1085C>T p.Pro362Leu Missense 10/15 -
17-41955336-G-A MPP2 c.1498C>T p.Arg500Trp Missense 13/13 -
11-34909969-C-G APIP c.332G>C p.Gly111Ala Missense 5/7 -
15-45361161-G-A SORD c.697G>A p.Ala233Thr Missense 7/9 -
16-4833525-C-T SEPT12 c.664G>A p.Val222Ile Missense 7/10 -
6-42930566-A-G GNMT c.401A>G p.Asp134Gly Missense 3/6 -
6-135306521-T-C HBS1L c.1324A>G p.Ile442Val Missense 11/17 -
12-44161949-G-A IRAK4 c.35G>A p.Arg12His Missense 3/13 -
17-8644854-C-T CCDC42 c.430G>A p.Ala144Thr Missense 4/7 -
17-8644854-C-A CCDC42 c.430G>T p.Ala144Ser Missense 4/7 -
21-44488720-T-A CBS c.215A>T p.Lys72Ile Missense 4/17 -
5-71740017-C-T ZNF366 c.1801G>A p.Val601Met Missense 5/5 -
3-52021009-C-T ACY1 c.589C>T p.Arg197Trp Missense 9/15 -
22-43278297-A-T PACSIN2 c.799T>A p.Tyr267Asn Missense 7/11 -
16-58230665-T-G CSNK2A2 c.188A>C p.Asn63Thr Missense 2/12 -
19-40199901-T-C LGALS14 c.368T>C p.Met123Thr Missense 4/4 -
7-144462990-C-T TPK1 c.98G>A p.Arg33His Missense 3/9 -
22-29141917-A-G HSCB c.489A>G p.Ile163Met Missense 4/6 -
2-95542433-C-T TEKT4 c.1227C>T p.Asn409Asn Synonymous 6/6 -
2-95542433-C-G TEKT4 c.1227C>G p.Asn409Lys Missense 6/6 -
6-36651971-C-T CDKN1A c.93C>T p.Ser31Ser Synonymous 3/4 -
6-36651971-C-A CDKN1A c.93C>A p.Ser31Arg Missense 3/4 -
2-43015704-T-C HAAO c.124A>G p.Thr42Ala Missense 2/10 -
2-43015704-T-A HAAO c.124A>T p.Thr42Ser Missense 2/10 -
9-139262205-C-A CARD9 c.1153G>T p.Val385Leu Missense 8/13 -
9-139262205-C-G CARD9 c.1153G>C p.Val385Leu Missense 8/13 -
9-139262205-C-T CARD9 c.1153G>A p.Val385Met Missense 8/13 -
19-375775-G-C THEG c.196C>G p.Pro66Ala Missense 1/8 -
19-375775-G-A THEG c.196C>T p.Pro66Ser Missense 1/8 -
18-48573524-A-C SMAD4 c.108A>C p.Ala36Ala Synonymous 2/12 -
18-48573524-A-T SMAD4 c.108A>T p.Ala36Ala Synonymous 2/12 -
6-33541836-C-T BAK1 c.506G>A p.Arg169Gln Missense 5/6 -
15-91496242-C-T UNC45A c.2387C>T p.Thr796Met Missense 18/20 -
6-28219661-G-A ZKSCAN4 c.98C>T p.Ser33Phe Missense 1/5 -
6-28219661-G-T ZKSCAN4 c.98C>A p.Ser33Tyr Missense 1/5 -
12-105600846-T-C APPL2 c.614A>G p.His205Arg Missense 8/21 -
6-49663567-A-G CRISP2 c.586T>C p.Cys196Arg Missense 9/10 -
6-116325142-C-T FRK c.364G>A p.Gly122Arg Missense 2/8 -
6-28269663-A-G PGBD1 c.2032A>G p.Ile678Val Missense 7/7 -
12-53227957-G-C KRT79 c.88C>G p.Arg30Gly Missense 1/9 -
8-17094739-T-C CNOT7 c.455A>G p.Lys152Arg Missense 4/7 -
20-1143797-T-C PSMF1 c.575T>C p.Val192Ala Missense 6/8 -
3-53326592-G-C DCP1A c.890C>G p.Ala297Gly Missense 7/10 -
7-75189180-C-T HIP1 c.1231G>A p.Glu411Lys Missense 14/31 -
6-62390920-G-A KHDRBS2 c.998C>T p.Pro333Leu Missense 9/9 -
1-54479986-G-A LDLRAD1 c.125C>T p.Ser42Phe Missense 3/6 -
17-28618342-G-A BLMH c.198C>T p.Asn66Asn Synonymous 2/12 -
17-28618342-G-T BLMH c.198C>A p.Asn66Lys Missense 2/12 -
4-114378519-G-A CAMK2D c.1405C>T p.Arg469Cys Missense 17/19 -
11-64807235-C-A SNX15 c.1000C>A p.Arg334Ser Missense 8/8 -
11-61732960-C-T FTH1 c.142G>A p.Ala48Thr Missense 2/4 -
7-93540153-G-C GNGT1 c.148G>C p.Glu50Gln Missense 3/3 -
7-93540153-G-A GNGT1 c.148G>A p.Glu50Lys Missense 3/3 -
3-184910738-C-T EHHADH c.1160G>A p.Arg387Gln Missense 7/7 -
19-48543883-C-T CABP5 c.217G>A p.Gly73Ser Missense 3/6 -
19-48543883-C-G CABP5 c.217G>C p.Gly73Arg Missense 3/6 -
20-9547018-C-T PAK5 c.1004G>A p.Arg335Gln Missense 6/11 -
3-42730389-G-A KLHL40 c.1450G>A p.Asp484Asn Missense 4/6 -
7-144380018-C-T TPK1 c.169G>A p.Glu57Lys Missense 4/9 -
4-145035851-C-T GYPA c.427G>A p.Glu143Lys Missense 6/7 -
1-155296503-T-A RUSC1 c.1994T>A p.Phe665Tyr Missense 8/10 -
1-155296503-T-C RUSC1 c.1994T>C p.Phe665Ser Missense 8/10 -
9-140108465-G-A NDOR1 c.457G>A p.Val153Ile Missense 5/14 -
15-41602017-G-A OIP5 c.625C>T p.Arg209Cys Missense 5/5 -
4-99397428-G-A TSPAN5 c.653C>T p.Thr218Met Missense 7/8 -
1-11115948-C-T SRM c.655G>A p.Glu219Lys Missense 6/8 -
4-166234488-G-A KLHL2 c.1450G>A p.Ala484Thr Missense 12/15 -
1-24124187-T-C GALE c.526A>G p.Lys176Glu Missense 6/12 -
17-39135089-G-A KRT40 c.1163C>T p.Thr388Met Missense 8/9 -
2-28050468-A-G RBKS c.761T>C p.Ile254Thr Missense 7/8 -
10-17747017-T-C STAM c.1049T>C p.Ile350Thr Missense 11/14 -
14-20784560-A-T CCNB1IP1 c.123T>A p.Phe41Leu Missense 5/7 -
10-103310600-A-G BTRC c.1801A>G p.Thr601Ala Missense 14/15 -
14-105643046-C-T NUDT14 c.253G>A p.Gly85Arg Missense 4/5 -
4-186425698-G-T PDLIM3 c.836C>A p.Thr279Lys Missense 7/8 -
11-120008468-G-C TRIM29 c.272C>G p.Ser91Cys Missense 1/9 -
13-37582311-A-T EXOSC8 c.605A>T p.Asp202Val Missense 9/11 -
19-58773189-A-T ZNF544 c.1217A>T p.Lys406Met Missense 7/7 -
1-155282155-G-A FDPS c.449G>A p.Arg150Gln Missense 4/11 -
1-94032937-T-C BCAR3 c.2198A>G p.Asn733Ser Missense 13/14 -
15-57565248-A-T TCF12 c.1694A>T p.Asp565Val Missense 18/20 -
15-57565248-A-G TCF12 c.1694A>G p.Asp565Gly Missense 18/20 -
7-25194753-C-T C7orf31 c.472G>A p.Ala158Thr Missense 6/10 -
17-28576076-T-C BLMH c.1327A>G p.Ile443Val Missense 12/12 -
11-77931456-C-T GAB2 c.1796G>A p.Gly599Asp Missense 9/10 -
20-60882864-G-A ADRM1 c.719G>A p.Gly240Glu Missense 6/9 -
13-37580280-T-C EXOSC8 c.373T>C p.Cys125Arg Missense 7/11 -
3-119242484-C-T TIMMDC1 c.739C>T p.Pro247Ser Missense 7/7 -
7-65546812-G-A ASL c.35G>A p.Arg12Gln Missense 3/17 -
6-143784092-A-G PEX3 c.245A>G p.Gln82Arg Missense 3/12 -
17-42429903-C-G GRN c.1608C>G p.Asp536Glu Missense 12/13 -
19-374338-A-C THEG c.392T>G p.Leu131Arg Missense 2/8 -
3-37092115-G-C MLH1 c.2242G>C p.Asp748His Missense 19/19 -
3-37092115-G-A MLH1 c.2242G>A p.Asp748Asn Missense 19/19 -
11-65715005-C-T TSGA10IP c.709C>T p.Arg237Cys Missense 3/8 -
11-65715005-C-A TSGA10IP c.709C>A p.Arg237Ser Missense 3/8 -
3-25792697-C-A NGLY1 c.550G>T p.Val184Phe Missense 4/12 -
3-25792697-C-T NGLY1 c.550G>A p.Val184Ile Missense 4/12 -
11-73122521-G-T FAM168A c.338C>A p.Pro113His Missense 5/8 -
8-27680615-T-A PBK c.260A>T p.Lys87Met Missense 4/8 -
20-1293046-G-A SDCBP2 c.667C>T p.Arg223Cys Missense 7/9 -
19-41263315-T-C SNRPA c.152T>C p.Met51Thr Missense 2/6 -
17-40277835-T-C RAB5C c.617A>G p.Asn206Ser Missense 6/6 -
17-40277835-T-G RAB5C c.617A>C p.Asn206Thr Missense 6/6 -
10-135053710-C-A VENTX c.677C>A p.Ala226Glu Missense 3/3 -
22-42912136-G-T RRP7A c.223C>A p.Leu75Met Missense 3/7 -
7-100883176-C-T FIS1 c.370G>A p.Val124Met Missense 5/5 -
1-114438951-A-G AP4B1 c.1439T>C p.Leu480Ser Missense 9/11 -
2-39008699-G-T GEMIN6 c.169G>T p.Val57Leu Missense 3/3 -
2-39008699-G-C GEMIN6 c.169G>C p.Val57Leu Missense 3/3 -
5-132334397-A-G ZCCHC10 c.391T>C p.Ser131Pro Missense 4/4 -
14-20781699-T-C CCNB1IP1 c.559A>G p.Thr187Ala Missense 6/7 -
11-64807235-C-G SNX15 c.1000C>G p.Arg334Gly Missense 8/8 -
11-43940595-A-G ALKBH3 c.677A>G p.Asn226Ser Missense 9/10 -
1-160250012-G-C PEX19 c.619C>G p.Arg207Gly Missense 6/8 -
1-160250012-G-A PEX19 c.619C>T p.Arg207Trp Missense 6/8 -
2-198001339-G-A ANKRD44 c.238C>T p.Arg80Trp Missense 4/10 -
14-68123302-C-T VTI1B c.371G>A p.Arg124Gln Missense 4/6 -
2-198001339-G-C ANKRD44 c.238C>G p.Arg80Gly Missense 4/10 -
18-23637658-C-T SS18 c.280G>A p.Gly94Ser Missense 4/11 -
2-158978094-G-A UPP2 c.628G>A p.Val210Ile Missense 5/7 -
11-61669946-G-A RAB3IL1 c.967C>T p.His323Tyr Missense 8/10 -
19-41893502-G-A EXOSC5 c.532C>T p.Arg178Trp Missense 5/6 -
22-18650682-C-T USP18 c.506C>T p.Thr169Met Missense 6/11 -
X-48972112-A-G GPKOW c.1178T>C p.Val393Ala Missense 9/11 -
1-154938662-T-C SHC1 c.1228A>G p.Met410Val Missense 9/12 -
1-32660776-C-T TXLNA c.1621C>T p.Pro541Ser Missense 11/11 -
1-46521559-A-T PIK3R3 c.849T>A p.Asn283Lys Missense 7/10 -
3-126071170-G-A KLF15 c.596C>T p.Ala199Val Missense 2/3 -
18-44560123-C-T ELOA2 c.1513G>A p.Gly505Arg Missense 1/1 -
8-6783420-G-C DEFA6 c.138C>G p.Asp46Glu Missense 1/2 -
1-29475394-C-G SRSF4 c.1013G>C p.Gly338Ala Missense 6/6 -
12-12871138-C-T CDKN1B c.365C>T p.Pro122Leu Missense 1/3 -
2-242283278-C-G SEPT2 c.808C>G p.His270Asp Missense 9/13 -
2-198001339-G-T ANKRD44 c.238C>A p.Arg80Arg Synonymous 4/10 -
11-32417814-C-A WT1 c.1202G>T - missense_variant 6/9 -
19-19681089-G-A PBX4 c.461C>T p.Thr154Met Missense 4/8 -
X-38176636-C-T RPGR c.552G>A p.Gln184Gln Synonymous 6/19 -
16-75602007-A-G GABARAPL2 c.163A>G p.Ile55Val Missense 3/4 -
1-32660776-C-G TXLNA c.1621C>G p.Pro541Ala Missense 11/11 -
20-32881908-T-C AHCY c.274A>G p.Ile92Val Missense 3/10 -
1-29475394-C-T SRSF4 c.1013G>A p.Gly338Glu Missense 6/6 -
8-19221664-G-T SH2D4A c.788G>T p.Gly263Val Missense 7/10 -
8-19221664-G-C SH2D4A c.788G>C p.Gly263Ala Missense 7/10 -
16-4833938-C-T SEPT12 c.506G>A p.Gly169Glu Missense 5/10 -
3-37081687-G-T MLH1 c.1569G>T p.Glu523Asp Missense 14/19 -
19-56160797-G-A CCDC106 c.160G>A p.Ala54Thr Missense 4/6 -
17-28598294-C-A BLMH c.1141G>T p.Glu381* Nonsense 10/12 -
1-160254854-G-C PEX19 c.61C>G p.Leu21Val Missense 1/8 -
1-160253424-G-T PEX19 c.76C>A p.Leu26Ile Missense 2/8 -
3-33877626-G-A PDCD6IP c.940G>A p.Ala314Thr Missense 8/18 -
1-183536089-A-G NCF2 c.890T>C p.Val297Ala Missense 9/15 -
20-60881736-A-G ADRM1 c.370A>G p.Met124Val Missense 4/9 -
22-50989793-G-A SYCE3 c.148C>T p.Arg50Cys Missense 3/3 -
19-54653359-T-G CNOT3 c.1471T>G p.Ser491Ala Missense 13/18 -
13-52603448-A-G ALG11 c.*722A>G - 3-UTRSNV 4/4 -
7-92244486-T-A CDK6 c.949A>T p.Ser317Cys Missense 8/8 -
16-69875981-G-T WWP2 c.533G>T p.Arg178Leu Missense 7/25 -
7-152346092-C-T XRCC2 c.478G>A p.Val160Ile Missense 3/3 -
11-46342283-T-G CREB3L1 c.1547T>G p.Ile516Ser Missense 12/12 -
21-44293744-C-G WDR4 c.213G>C p.Lys71Asn Missense 3/11 -
10-91162516-G-A IFIT1 c.484G>A p.Ala162Thr Missense 2/2 -
10-118084551-A-G CCDC172 c.28A>G p.Ile10Val Missense 2/9 -
6-28194963-A-G ZSCAN9 c.101A>G p.Gln34Arg Missense 2/4 -
6-33543207-T-A BAK1 c.218A>T p.Gln73Leu Missense 4/6 -
20-30309880-G-A BCL2L1 c.142C>T p.Pro48Ser Missense 2/3 -
20-1293247-C-T SDCBP2 c.544G>A p.Val182Met Missense 6/9 -
11-69456169-G-T CCND1 c.88G>T p.Ala30Ser Missense 1/5 -
11-69456169-G-A CCND1 c.88G>A p.Ala30Thr Missense 1/5 -
X-149013408-G-T MAGEA8 c.362G>T p.Arg121Leu Missense 3/3 -
12-15073952-C-G ERP27 c.364G>C p.Glu122Gln Missense 4/7 -
4-71115060-G-A CSN3 c.433G>A p.Ala145Thr Missense 4/5 -
6-122743891-G-A HSF2 c.859G>A p.Val287Ile Missense 9/13 -
11-5248233-C-T HBB c.19G>A p.Glu7Lys Missense 1/3 -
6-42930505-G-A GNMT c.340G>A p.Glu114Lys Missense 3/6 -
6-42930505-G-C GNMT c.340G>C p.Glu114Gln Missense 3/6 -
19-7747293-T-G TRAPPC5 c.154T>G p.Ser52Ala Missense 2/2 -
17-46929908-T-C CALCOCO2 c.743T>C p.Val248Ala Missense 8/13 -
2-48063051-T-C FBXO11 c.425A>G p.Tyr142Cys Missense 5/23 -
X-109459826-T-C AMMECR1 c.508A>G p.Arg170Gly Missense 2/5 -
22-39176990-G-A DNAL4 c.94C>T p.Arg32Cys Missense 3/4 -
22-39176990-G-C DNAL4 c.94C>G p.Arg32Gly Missense 3/4 -
12-21620419-G-A PYROXD1 c.1121G>A p.Arg374Lys Missense 11/12 -
19-48789176-C-A ZNF114 c.295C>A p.His99Asn Missense 6/6 -
12-56602003-G-A RNF41 c.442C>T p.Arg148Cys Missense 5/7 -
22-26902371-T-G TFIP11 c.418A>C p.Met140Leu Missense 7/16 -
22-27024258-C-T CRYBA4 c.307C>T p.Arg103Cys Missense 5/6 -
2-95540570-C-T TEKT4 c.763C>T p.Arg255Cys Missense 4/6 -
17-39140417-T-C KRT40 c.109A>G p.Thr37Ala Missense 3/9 -
20-62595882-C-T ZNF512B c.1222G>A p.Ala408Thr Missense 6/17 -
10-91163390-T-G IFIT1 c.1358T>G p.Met453Arg Missense 2/2 -
10-91163390-T-C IFIT1 c.1358T>C p.Met453Thr Missense 2/2 -
18-2616457-G-C NDC80 c.1813G>C p.Ala605Pro Missense 17/17 -
9-135703450-G-A AK8 c.506C>T p.Thr169Met Missense 7/13 -
4-114381380-C-T CAMK2D c.1127G>A p.Gly376Asp Missense 16/19 -
4-77045812-C-T NUP54 c.1010G>A p.Arg337Lys Missense 8/11 -
22-38935367-T-C DMC1 c.545A>G p.Asp182Gly Missense 9/14 -
2-175742774-C-G CHN1 c.343G>C p.Asp115His Missense 6/13 -
2-175742774-C-T CHN1 c.343G>A p.Asp115Asn Missense 6/13 -
11-6630580-G-T ILK c.669G>T p.Lys223Asn Missense 8/13 -
16-71610194-G-A TAT c.125C>T p.Ser42Phe Missense 2/12 -
17-46929928-A-G CALCOCO2 c.763A>G p.Thr255Ala Missense 8/13 -
12-15073952-C-T ERP27 c.364G>A p.Glu122Lys Missense 4/7 -
1-51439640-A-G CDKN2C c.205A>G p.Thr69Ala Missense 3/3 -
2-95540570-C-A TEKT4 c.763C>A p.Arg255Ser Missense 4/6 -
14-55655692-C-T DLGAP5 c.206G>A p.Gly69Glu Missense 2/19 -
4-1206045-C-T CTBP1 c.1306G>A p.Ala436Thr Missense 9/9 -
3-58487265-A-G KCTD6 c.620A>G p.Asn207Ser Missense 2/2 -
X-37700332-C-T DYNLT3 c.223G>A p.Ala75Thr Missense 4/5 -
19-33702432-C-G SLC7A10 c.800G>C p.Arg267Pro Missense 6/11 -
21-46086758-C-T TSPEAR c.82+44590G>A - IntronicSNV - 1/11
13-28143229-A-G LNX2 c.592T>C p.Ser198Pro Missense 3/10 -
16-3339435-G-A ZNF263 c.929G>A p.Cys310Tyr Missense 6/6 -
16-3339435-G-T ZNF263 c.929G>T p.Cys310Phe Missense 6/6 -
3-17349498-T-C TBC1D5 c.1124A>G p.Tyr375Cys Missense 14/22 -
19-34942926-G-T UBA2 c.912G>T p.Gln304His Missense 10/17 -
1-154938662-T-A SHC1 c.1228A>T p.Met410Leu Missense 9/12 -
17-79993919-C-A DCXR c.646G>T p.Ala216Ser Missense 8/8 -
9-35733402-A-G CREB3 c.355A>G p.Arg119Gly Missense 4/9 -
2-163213305-A-G GCA c.344A>G p.Lys115Arg Missense 5/8 -
19-48790091-A-G ZNF114 c.1210A>G p.Lys404Glu Missense 6/6 -
19-371213-T-C THEG c.745A>G p.Met249Val Missense 6/8 -
8-144643921-G-C GSDMD c.746G>C p.Arg249Pro Missense 7/11 -
8-144643921-G-A GSDMD c.746G>A p.Arg249His Missense 7/11 -
9-123605169-C-A PSMD5 c.19G>T p.Ala7Ser Missense 1/10 -
17-42979790-C-A CCDC103 c.334C>A p.His112Asn Missense 4/4 -
12-53225406-C-T KRT79 c.482G>A p.Arg161Gln Missense 2/9 -
19-49339623-C-T HSD17B14 c.46G>A p.Gly16Arg Missense 1/9 -
1-110280921-C-T GSTM3 c.257G>A p.Arg86His Missense 5/9 -
19-35613689-G-A FXYD3 c.118G>A p.Gly40Ser Missense 7/9 -
9-110084388-C-G RAD23B c.806C>G p.Thr269Arg Missense 7/10 -
6-31632134-C-A GPANK1 c.122G>T p.Arg41Leu Missense 2/3 -
6-31632134-C-T GPANK1 c.122G>A p.Arg41Gln Missense 2/3 -
7-91623968-G-A AKAP9 c.610G>A p.Asp204Asn Missense 6/50 -
3-184910042-A-G EHHADH c.1856T>C p.Leu619Ser Missense 7/7 -
17-47010577-T-C SNF8 c.554A>G p.Gln185Arg Missense 6/8 -
11-61732299-T-C FTH1 c.452A>G p.Asp151Gly Missense 4/4 -
7-43978084-G-A UBE2D4 c.79G>A p.Gly27Ser Missense 2/7 -
X-99931103-C-T SYTL4 c.1938G>A p.Met646Ile Missense 19/19 -
16-30594465-G-A ZNF785 c.634C>T p.Arg212Cys Missense 3/3 -
17-40277865-C-T RAB5C c.587G>A p.Arg196Gln Missense 6/6 -
9-123675628-C-T TRAF1 c.683G>A p.Arg228His Missense 5/8 -
11-6500456-G-C ARFIP2 c.229C>G p.Pro77Ala Missense 4/8 -
1-29475394-C-A SRSF4 c.1013G>T p.Gly338Val Missense 6/6 -
6-10877559-C-G GCM2 c.157G>C p.Asp53His Missense 2/5 -
6-10877559-C-T GCM2 c.157G>A p.Asp53Asn Missense 2/5 -
16-731811-G-T JMJD8 c.*983C>A - 3-UTRSNV 9/9 -
16-731811-G-C JMJD8 c.*983C>G - 3-UTRSNV 9/9 -
16-731811-G-A JMJD8 c.*983C>T - 3-UTRSNV 9/9 -
19-373485-T-C THEG c.550A>G p.Thr184Ala Missense 4/8 -
2-88825941-A-G TEX37 c.46A>G p.Ile16Val Missense 3/4 -
7-75189102-G-T HIP1 c.1309C>A p.Leu437Met Missense 14/31 -
22-38084910-T-A NOL12 c.292T>A p.Tyr98Asn Missense 4/6 -
22-38084910-T-C NOL12 c.292T>C p.Tyr98His Missense 4/6 -
11-73990475-G-A P4HA3 c.1133C>T p.Ser378Leu Missense 8/13 -
3-37089037-A-C MLH1 c.1759A>C p.Met587Leu Missense 16/19 -
14-65009276-A-G HSPA2 c.1709A>G p.Lys570Arg Missense 1/1 -
19-371266-C-T THEG c.692G>A p.Arg231His Missense 6/8 -
17-28601131-T-C BLMH c.730A>G p.Lys244Glu Missense 7/12 -
6-28219695-G-A ZKSCAN4 c.64C>T p.Leu22Phe Missense 1/5 -
3-128356666-G-C RPN1 c.609C>G p.Phe203Leu Missense 3/10 -
17-42992526-G-C GFAP c.329C>G p.Thr110Ser Missense 1/9 -
8-6783420-G-T DEFA6 c.138C>A p.Asp46Glu Missense 1/2 -
1-233802497-G-A KCNK1 c.512G>A p.Arg171His Missense 2/3 -
17-79954429-C-T ASPSCR1 c.640C>T p.Arg214Cys Missense 7/16 -
6-34497563-C-T PACSIN1 c.733C>T p.Leu245Phe Missense 6/10 -
15-57545644-C-T TCF12 c.1373C>T p.Ala458Val Missense 15/20 -
11-562421-G-A RASSF7 c.467G>A p.Arg156Gln Missense 3/6 -
11-562421-G-C RASSF7 c.467G>C p.Arg156Pro Missense 3/6 -
1-151743565-G-A OAZ3 c.578G>A - missense_variant 5/5 -
1-60338498-C-T HOOK1 c.2048C>T p.Ser683Phe Missense 22/22 -
20-37547160-C-T PPP1R16B c.1555C>T p.Pro519Ser Missense 11/11 -
3-137787041-C-T DZIP1L c.1784G>A p.Gly595Glu Missense 13/16 -
1-19635011-C-T AKR7A2 c.424G>A p.Ala142Thr Missense 2/7 -
3-123695759-A-C ROPN1 c.186T>G p.Cys62Trp Missense 4/7 -
20-18513350-G-A SEC23B c.1276G>A p.Val426Ile Missense 11/20 -
18-48593468-G-C SMAD4 c.1219G>C p.Val407Leu Missense 10/12 -
15-67457698-A-G SMAD3 c.508A>G p.Ile170Val Missense 3/9 -
9-92220760-G-A GADD45G c.334G>A p.Gly112Ser Missense 3/4 -
12-124111627-C-A EIF2B1 c.446G>T p.Ser149Ile Missense 5/9 -
1-19635011-C-G AKR7A2 c.424G>C p.Ala142Pro Missense 2/7 -
5-150436422-C-T TNIP1 c.532G>A p.Gly178Ser Missense 6/18 -
10-118100258-T-C CCDC172 c.178T>C p.Phe60Leu Missense 4/9 -
10-17747630-G-A STAM c.1099G>A p.Ala367Thr Missense 12/14 -
19-39322087-T-G ECH1 c.122A>C p.Glu41Ala Missense 2/10 -
4-95561480-C-T PDLIM5 c.835C>T p.Pro279Ser Missense 9/13 -
8-6783453-C-G DEFA6 c.105G>C p.Glu35Asp Missense 1/2 -
8-6783453-C-T DEFA6 c.105G>A p.Glu35Glu Synonymous 1/2 -
2-70057253-G-A GMCL1 c.229G>A p.Glu77Lys Missense 1/14 -
2-70057253-G-C GMCL1 c.229G>C p.Glu77Gln Missense 1/14 -
10-92631778-G-A RPP30 c.35G>A p.Gly12Asp Missense 1/11 -
10-92631778-G-T RPP30 c.35G>T p.Gly12Val Missense 1/11 -
9-97321276-G-T FBP2 c.964C>A p.Pro322Thr Missense 7/7 -
17-28598294-C-T BLMH c.1141G>A p.Glu381Lys Missense 10/12 -
13-52604648-G-A ALG11 c.*1922G>A - IntergenicSNV 4/4 -
12-12870793-C-G CDKN1B c.20C>G p.Ser7Cys Missense 1/3 -
2-158978085-C-T UPP2 c.619C>T p.Pro207Ser Missense 5/7 -
6-30128442-C-T TRIM10 c.194G>A p.Arg65His Missense 1/7 -
10-95259983-C-T CEP55 c.175C>T p.Leu59Phe Missense 2/9 -
18-32823206-C-T ZNF397 c.505C>T p.Pro169Ser Missense 3/6 -
18-32823206-C-G ZNF397 c.505C>G p.Pro169Ala Missense 3/6 -
3-119219573-A-G TIMMDC1 c.226A>G p.Asn76Asp Missense 2/7 -
6-28268824-A-G PGBD1 c.1193A>G p.Asn398Ser Missense 7/7 -
8-57026379-T-C MOS c.163A>G p.Ile55Val Missense 1/1 -
19-10677955-C-A CDKN2D c.280G>T p.Val94Leu Missense 3/3 -
6-41903760-G-A CCND3 c.797C>T p.Ala266Val Missense 5/5 -
19-34942926-G-A UBA2 c.912G>A p.Gln304Gln Synonymous 10/17 -
1-156255327-T-A TMEM79 c.310T>A p.Ser104Thr Missense 2/4 -
12-122353796-A-G PSMD9 c.590A>G p.Glu197Gly Missense 5/6 -
19-8578000-G-A ZNF414 c.229C>T p.Pro77Ser Missense 2/6 -
2-28081430-G-A RBKS c.98C>T p.Ser33Phe Missense 2/8 -
20-45315786-C-T TP53RK c.368G>A p.Arg123Gln Missense 2/2 -
9-123675635-G-A TRAF1 c.676C>T p.Arg226Cys Missense 5/8 -
20-31421567-A-G MAPRE1 c.166A>G p.Ile56Val Missense 3/7 -
2-105990062-G-A FHL2 c.285C>T p.Asn95Asn Synonymous 4/7 -
3-37090471-A-G MLH1 c.2066A>G p.Gln689Arg Missense 18/19 -
12-88379752-T-C C12orf50 c.1001A>G p.Tyr334Cys Missense 11/13 -
1-20931529-C-T CDA c.263C>T p.Ala88Val Missense 2/4 -
2-163208893-T-G GCA c.238T>G p.Ser80Ala Missense 3/8 -
12-56554090-G-T MYL6 c.413G>T p.Cys138Phe Missense 5/7 -
12-56554090-G-C MYL6 c.413G>C p.Cys138Ser Missense 5/7 -
12-56554090-G-A MYL6 c.413G>A p.Cys138Tyr Missense 5/7 -
3-37092025-C-T MLH1 c.2152C>T p.His718Tyr Missense 19/19 -
11-102248406-A-G BIRC2 c.1546A>G p.Lys516Glu Missense 7/9 -
1-246810698-C-T CNST c.1195C>T p.Arg399Cys Missense 9/11 -
9-139265402-C-T CARD9 c.518G>A p.Arg173His Missense 4/13 -
8-37996388-C-T ASH2L c.1774C>T p.Arg592Cys Missense 15/16 -
7-56082831-G-T PSPH c.455C>A p.Thr152Lys Missense 7/8 -
15-74925156-T-C EDC3 c.1324A>G p.Ile442Val Missense 7/7 -
11-65715171-G-A TSGA10IP c.875G>A p.Ser292Asn Missense 3/8 -
7-56082831-G-A PSPH c.455C>T p.Thr152Ile Missense 7/8 -
16-4833960-C-T SEPT12 c.484G>A p.Val162Met Missense 5/10 -
15-83447631-T-G FSD2 c.998A>C p.Lys333Thr Missense 6/13 -
2-39006154-G-A GEMIN6 c.22G>A p.Gly8Ser Missense 2/3 -
13-47355699-T-C ESD c.433A>G p.Ile145Val Missense 7/10 -
22-38341124-T-G C22orf23 c.406A>C p.Met136Leu Missense 5/7 -
7-123109348-T-A IQUB c.1501A>T p.Ile501Phe Missense 9/13 -
19-58640327-T-C ZNF329 c.544A>G p.Asn182Asp Missense 4/4 -
2-71351487-G-A MCEE c.227C>T p.Ala76Val Missense 2/3 -
18-61077645-G-C VPS4B c.174C>G p.Ile58Met Missense 3/11 -
2-70098882-G-A GMCL1 c.1370G>A p.Arg457His Missense 13/14 -
11-6631234-G-A ILK c.1046G>A p.Arg349His Missense 11/13 -
11-6631234-G-T ILK c.1046G>T p.Arg349Leu Missense 11/13 -
2-242265432-C-G SEPT2 c.34C>G p.Pro12Ala Missense 3/13 -
16-85722428-A-G GINS2 c.77T>C p.Ile26Thr Missense 1/5 -
15-65256074-G-C SPG21 c.814C>G p.His272Asp Missense 9/9 -
6-30303553-T-C TRIM39-RPP21 c.581T>C p.Leu194Ser Missense 3/10 -
6-36652067-C-T CDKN1A c.189C>T p.Phe63Phe Synonymous 3/4 -
2-132290464-G-A CCDC74A c.904G>A p.Gly302Arg Missense 6/8 -
4-114378518-C-T CAMK2D c.1406G>A p.Arg469His Missense 17/19 -
4-114378518-C-A CAMK2D c.1406G>T p.Arg469Leu Missense 17/19 -
2-39006206-G-A GEMIN6 c.74G>A p.Ser25Asn Missense 2/3 -
11-77937972-T-A GAB2 c.746A>T p.Tyr249Phe Missense 4/10 -
11-77937972-T-C GAB2 c.746A>G p.Tyr249Cys Missense 4/10 -
12-105611448-T-C APPL2 c.209A>G p.Lys70Arg Missense 3/21 -
3-57271566-A-G APPL1 c.200A>G p.Glu67Gly Missense 3/22 -
3-57271566-A-C APPL1 c.200A>C p.Glu67Ala Missense 3/22 -
21-44488631-T-G CBS c.304A>C p.Lys102Gln Missense 4/17 -
19-48789501-T-C ZNF114 c.620T>C p.Val207Ala Missense 6/6 -
17-4892176-C-A INCA1 c.414G>T p.Glu138Asp Missense 7/8 -
17-4892176-C-G INCA1 c.414G>C p.Glu138Asp Missense 7/8 -
18-52604083-T-C CCDC68 c.452A>G p.Asp151Gly Missense 6/12 -
15-57355989-G-C TCF12 c.190G>C p.Gly64Arg Missense 4/20 -
2-231333763-A-T SP100 c.1297A>T p.Met433Leu Missense 14/25 -
3-10183605-C-T VHL c.74C>T p.Pro25Leu Missense 1/3 -
13-52604894-G-A ALG11 c.*2168G>A - IntergenicSNV 4/4 -
17-42811497-T-C DBF4B c.596T>C p.Leu199Ser Missense 7/15 -
2-99232993-A-G UNC50 c.640A>G p.Ser214Gly Missense 5/6 -
3-52023020-C-T ACY1 c.1156C>T p.Arg386Cys Missense 15/15 -
7-143001811-G-A CASP2 c.1162G>A p.Glu388Lys Missense 10/11 -
4-166184433-G-A KLHL2 c.478G>A p.Val160Ile Missense 5/15 -
1-182354972-C-T GLUL c.526G>A p.Val176Met Missense 6/8 -
6-155154230-A-G SCAF8 c.3517A>G p.Met1173Val Missense 20/20 -
17-7129898-G-T DVL2 c.1604C>A p.Thr535Asn Missense 14/15 -
1-19634722-G-A AKR7A2 c.521C>T p.Ala174Val Missense 3/7 -
22-39917960-A-G ATF4 c.409A>G p.Thr137Ala Missense 2/2 -
22-39917960-A-T ATF4 c.409A>T p.Thr137Ser Missense 2/2 -
19-13059148-C-T RAD23A c.392C>T p.Thr131Met Missense 3/9 -
19-13059148-C-A RAD23A c.392C>A p.Thr131Lys Missense 3/9 -
19-44739328-C-A ZNF227 c.745C>A p.Pro249Thr Missense 6/6 -
6-35782525-G-C LHFPL5 c.615G>C p.Lys205Asn Missense 2/4 -
6-35782525-G-A LHFPL5 c.615G>A p.Lys205Lys Synonymous 2/4 -
14-105642889-C-T NUDT14 c.410G>A p.Arg137His Missense 4/5 -
1-15832543-T-C CASP9 c.413A>G p.Gln138Arg Missense 5/9 -
14-75747512-G-A FOS c.528G>A p.Lys176Lys Synonymous 4/4 -
1-15832543-T-A CASP9 c.413A>T p.Gln138Leu Missense 5/9 -
14-75747512-G-C FOS c.528G>C p.Lys176Asn Missense 4/4 -
6-30529700-C-T PRR3 c.259C>T p.Arg87Trp Missense 3/4 -
2-95537563-C-T TEKT4 c.239C>T p.Ala80Val Missense 1/6 -
5-134364518-C-G PITX1 c.896G>C p.Gly299Ala Missense 3/3 -
X-69176938-G-A EDA c.458G>A p.Arg153His Missense 2/8 -
2-201768238-C-T NIF3L1 c.890C>T p.Thr297Ile Missense 7/7 -
19-804613-G-T PTBP1 c.517G>T p.Ala173Ser Missense 6/15 -
6-122741351-A-T HSF2 c.665A>T p.Asp222Val Missense 7/13 -
11-43904670-G-T ALKBH3 c.115G>T p.Gly39Cys Missense 3/10 -
14-67759282-C-G MPP5 c.422C>G p.Ser141Cys Missense 4/15 -
14-67759282-C-A MPP5 c.422C>A p.Ser141Tyr Missense 4/15 -
14-67759282-C-T MPP5 c.422C>T p.Ser141Phe Missense 4/15 -
7-97487664-C-T ASNS c.829G>A p.Ala277Thr Missense 7/13 -
8-16026259-A-T MSR1 c.338T>A p.Val113Asp Missense 4/9 -
17-7574013-G-A TP53 c.1014C>T p.Phe338Phe Synonymous 10/11 -
17-7574013-G-C TP53 c.1014C>G p.Phe338Leu Missense 10/11 -
12-10251445-C-A CLEC1A c.77G>T p.Gly26Val Missense 1/6 -
7-99170307-C-G ZNF655 c.576C>G p.Ser192Arg Missense 3/3 -
2-198361866-C-T HSPD1 c.425G>A p.Arg142Lys Missense 3/12 -
14-31071310-C-T G2E3 c.983C>T p.Pro328Leu Missense 10/15 -
12-113867073-G-A SDSL c.323G>A p.Gly108Glu Missense 5/9 -
19-12786370-G-C WDR83 c.832G>C p.Gly278Arg Missense 9/9 -
19-12786370-G-A WDR83 c.832G>A p.Gly278Ser Missense 9/9 -
19-12786370-G-T WDR83 c.832G>T p.Gly278Cys Missense 9/9 -
22-39918323-C-G ATF4 c.772C>G p.Pro258Ala Missense 2/2 -
1-12082938-C-T MIIP c.511C>T p.Arg171Cys Missense 4/10 -
X-9000463-C-G FAM9B c.68G>C p.Arg23Pro Missense 3/9 -
9-139811005-G-A TRAF2 c.616G>A p.Val206Ile Missense 7/11 -
3-53324848-C-G DCP1A c.1422G>C p.Gln474His Missense 8/10 -
8-57026229-C-A MOS c.313G>T p.Ala105Ser Missense 1/1 -
8-57026229-C-G MOS c.313G>C p.Ala105Pro Missense 1/1 -
1-24124195-T-G GALE c.518A>C p.Gln173Pro Missense 6/12 -
19-45593574-C-T GEMIN7 c.202C>T p.Arg68Cys Missense 2/2 -
19-46417748-G-T NANOS2 c.204C>A p.His68Gln Missense 1/1 -
22-50989747-G-C SYCE3 c.194C>G p.Ala65Gly Missense 3/3 -
15-90904468-C-T ZNF774 c.1405C>T p.Arg469Cys Missense 4/4 -
6-130415458-C-A L3MBTL3 c.1682C>A p.Pro561Gln Missense 18/23 -
19-35175877-G-A ZNF302 c.935G>A p.Arg312His Missense 5/5 -
1-156105062-A-G LMNA c.895A>G p.Ile299Val Missense 5/12 -
8-22021460-G-A SFTPC c.500G>A p.Arg167Gln Missense 5/6 -
11-103908233-A-C DDI1 c.683A>C p.Asn228Thr Missense 1/1 -
11-103908233-A-G DDI1 c.683A>G p.Asn228Ser Missense 1/1 -
19-54659488-G-T LENG1 c.766C>A p.Arg256Ser Missense 4/4 -
3-44763037-A-C ZNF502 c.728A>C p.Glu243Ala Missense 4/4 -
3-44763037-A-T ZNF502 c.728A>T p.Glu243Val Missense 4/4 -
3-137786501-C-T DZIP1L c.1874G>A p.Arg625His Missense 14/16 -
14-65008138-T-A HSPA2 c.571T>A p.Cys191Ser Missense 1/1 -
19-14000170-T-C C19orf57 c.1499A>G p.Gln500Arg Missense 6/8 -
6-33543133-G-A BAK1 c.292C>T p.Gln98* Nonsense 4/6 -
6-33543133-G-C BAK1 c.292C>G p.Gln98Glu Missense 4/6 -
3-52022837-C-T ACY1 c.1057C>T p.Arg353Cys Missense 14/15 -
17-15217437-C-A TEKT3 c.845G>T p.Gly282Val Missense 6/9 -
11-5248232-T-G HBB c.20A>C p.Glu7Ala Missense 1/3 -
11-5248232-T-A HBB c.20A>T p.Glu7Val Missense 1/3 -
1-169345883-A-G BLZF1 c.134A>G p.His45Arg Missense 3/8 -
17-73127348-G-A NT5C c.203C>T p.Pro68Leu Missense 2/4 -
3-37045902-G-A MLH1 c.317G>A p.Ser106Asn Missense 4/19 -
14-65009260-A-G HSPA2 c.1693A>G p.Ile565Val Missense 1/1 -
19-14000870-C-T C19orf57 c.799G>A p.Gly267Arg Missense 6/8 -
3-160156200-G-A TRIM59 c.772C>T p.Arg258Cys Missense 3/3 -
11-102221475-A-G BIRC2 c.890A>G p.Tyr297Cys Missense 2/9 -
10-103310600-A-T BTRC c.1801A>T p.Thr601Ser Missense 14/15 -
17-39521248-A-C KRT33B c.880T>G p.Tyr294Asp Missense 6/7 -
10-61083752-G-A FAM13C c.439C>T p.Pro147Ser Missense 4/12 -
19-49337595-C-T HSD17B14 c.148G>A p.Glu50Lys Missense 3/9 -
12-110341016-G-A TCHP c.185G>A p.Arg62Gln Missense 2/13 -
13-30784457-A-T KATNAL1 c.1270T>A p.Cys424Ser Missense 10/11 -
5-159820931-C-A ZBED8 c.1567G>T p.Ala523Ser Missense 2/2 -
12-113355447-T-C OAS1 c.980T>C p.Leu327Pro Missense 5/6 -
19-54659488-G-A LENG1 c.766C>T p.Arg256Cys Missense 4/4 -
18-44560429-C-A ELOA2 c.1207G>T p.Ala403Ser Missense 1/1 -
18-44560429-C-T ELOA2 c.1207G>A p.Ala403Thr Missense 1/1 -
X-153609258-G-C EMD c.466G>C p.Gly156Arg Missense 6/6 -
X-153609258-G-A EMD c.466G>A p.Gly156Ser Missense 6/6 -
2-71337203-C-A MCEE c.428G>T p.Arg143Leu Missense 3/3 -
2-71337203-C-T MCEE c.428G>A p.Arg143His Missense 3/3 -
5-82500729-G-A XRCC4 c.734G>A p.Gly245Glu Missense 6/8 -
5-78417152-C-A BHMT c.589C>A p.Pro197Thr Missense 5/8 -
4-77053834-T-C NUP54 c.605A>G p.Asn202Ser Missense 5/11 -
5-176931871-C-T DOK3 c.686G>A p.Arg229His Missense 5/6 -
17-73127192-A-G NT5C c.284T>C p.Val95Ala Missense 3/4 -
12-44165088-C-T IRAK4 c.227C>T p.Thr76Ile Missense 4/13 -
22-31583129-G-A RNF185 c.49G>A p.Ala17Thr Missense 2/7 -
19-56156364-C-T ZNF581 c.427C>T p.Arg143Trp Missense 2/2 -
4-155719189-T-G RBM46 c.378T>G p.Ile126Met Missense 3/5 -
1-182356326-G-A GLUL c.268C>T p.Arg90Cys Missense 4/8 -
18-44561619-G-C ELOA2 c.17C>G p.Thr6Ser Missense 1/1 -
17-47022048-C-T SNF8 c.49G>A p.Ala17Thr Missense 1/8 -
6-13321321-A-C TBC1D7 c.200T>G p.Leu67Trp Missense 4/8 -
X-149013408-G-A MAGEA8 c.362G>A p.Arg121His Missense 3/3 -
6-52615415-T-G GSTA2 c.629A>C p.Glu210Ala Missense 7/7 -
12-91347643-C-A CCER1 c.877G>T p.Glu293* Nonsense 1/1 -
12-91347643-C-T CCER1 c.877G>A p.Glu293Lys Missense 1/1 -
19-13867018-C-G CCDC130 c.65C>G p.Ser22Cys Missense 4/10 -
4-55599320-G-C KIT c.2446G>C p.Asp816His Missense 17/21 -
7-27135238-G-C HOXA1 c.294C>G p.Ser98Arg Missense 1/2 -
7-73609092-G-C EIF4H c.491G>C p.Gly164Ala Missense 6/7 -
7-73609092-G-T EIF4H c.491G>T p.Gly164Val Missense 6/7 -
1-110888948-G-A RBM15 c.*59G>A - 3_prime_UTR_variant 3/3 -
1-110888948-G-C RBM15 c.*59G>C - 3_prime_UTR_variant 3/3 -
3-49313882-T-C C3orf62 c.424A>G p.Asn142Asp Missense 1/3 -
12-52884427-C-T KRT6A c.1003G>A p.Ala335Thr Missense 5/9 -
3-52022997-G-A ACY1 c.1133G>A p.Arg378Gln Missense 15/15 -
19-15794470-G-A CYP4F12 c.815G>A p.Arg272Gln Missense 7/13 -
10-103541585-C-T NPM3 c.445G>A p.Glu149Lys Missense 5/6 -
1-3807360-G-A C1orf174 c.391C>T p.Arg131Cys Missense 3/4 -
4-110615839-C-T CASP6 c.325G>A p.Ala109Thr Missense 5/7 -
8-26365716-C-T PNMA2 c.556G>A p.Glu186Lys Missense 3/3 -
9-97382706-C-T FBP1 c.238G>A p.Asp80Asn Missense 2/7 -
9-97382706-C-G FBP1 c.238G>C p.Asp80His Missense 2/7 -
22-26906216-C-T TFIP11 c.23G>A p.Arg8Gln Missense 5/16 -
5-150444611-C-T TNIP1 c.46G>A p.Val16Met Missense 2/18 -
5-150444611-C-G TNIP1 c.46G>C p.Val16Leu Missense 2/18 -
14-20781942-A-G CCNB1IP1 c.316T>C p.Tyr106His Missense 6/7 -
11-6631039-T-A ILK c.941T>A p.Leu314His Missense 10/13 -
20-9543622-C-G PAK5 c.1532G>C p.Ser511Thr Missense 7/11 -
20-9543622-C-T PAK5 c.1532G>A p.Ser511Asn Missense 7/11 -
16-71602131-C-T TAT c.1281G>A p.Met427Ile Missense 12/12 -
1-32660697-C-G TXLNA c.1542C>G p.Ser514Arg Missense 11/11 -
4-114458513-G-T CAMK2D c.501C>A p.Asp167Glu Missense 7/19 -
17-66038247-C-T KPNA2 c.349C>T p.Arg117Trp Missense 5/11 -
11-6629316-G-C ILK c.130G>C p.Glu44Gln Missense 3/13 -
11-118842694-A-G FOXR1 c.53A>G p.Glu18Gly Missense 1/6 -
12-92537956-T-C BTG1 c.416A>G p.Asn139Ser Missense 2/2 -
12-3782647-A-T CRACR2A c.636T>A p.His212Gln Missense 7/11 -
19-19042160-G-A HOMER3 c.868C>T p.Arg290Cys Missense 9/10 -
12-99020285-A-C IKBIP c.557T>G p.Val186Gly Missense 3/3 -
2-95542327-T-A TEKT4 c.1121T>A p.Met374Lys Missense 6/6 -
5-75003678-T-C POC5 c.32A>G p.His11Arg Missense 2/11 -
5-75003678-T-A POC5 c.32A>T p.His11Leu Missense 2/11 -
9-135703450-G-T AK8 c.506C>A p.Thr169Lys Missense 7/13 -
14-75747681-C-G FOS c.697C>G p.Pro233Ala Missense 4/4 -
2-95542327-T-C TEKT4 c.1121T>C p.Met374Thr Missense 6/6 -
7-25181912-T-C C7orf31 c.899A>G p.His300Arg Missense 9/10 -
2-88828651-T-C TEX37 c.202T>C p.Tyr68His Missense 4/4 -
6-28219524-C-T ZKSCAN4 c.235G>A p.Gly79Arg Missense 1/5 -
6-28219524-C-G ZKSCAN4 c.235G>C p.Gly79Arg Missense 1/5 -
16-71604296-C-T TAT c.917G>A p.Arg306Gln Missense 9/12 -
1-11119353-C-G SRM c.217G>C p.Glu73Gln Missense 2/8 -
6-24784327-C-G GMNN c.287C>G p.Ser96Cys Missense 5/7 -
1-24125119-G-A GALE c.223C>T p.Arg75Cys Missense 4/12 -
3-12447548-G-A PPARG c.703G>A p.Ala235Thr Missense 5/7 -
19-19042139-C-G HOMER3 c.889G>C p.Val297Leu Missense 9/10 -
15-57554332-A-G TCF12 c.1436A>G p.Asn479Ser Missense 16/20 -
X-48767196-C-T SLC35A2 c.169G>A p.Ala57Thr Missense 2/5 -
2-33810638-T-G FAM98A c.847A>C p.Ser283Arg Missense 7/8 -
2-33810638-T-C FAM98A c.847A>G p.Ser283Gly Missense 7/8 -
X-154490199-C-G RAB39B c.531G>C p.Arg177Ser Missense 2/2 -
X-154490199-C-A RAB39B c.531G>T p.Arg177Ser Missense 2/2 -
11-43923243-C-T ALKBH3 c.637C>T p.Arg213Cys Missense 8/10 -
7-87537029-A-G DBF4 c.1576A>G p.Ile526Val Missense 12/12 -
7-142997061-C-G CASP2 c.793C>G p.Arg265Gly Missense 7/11 -
7-56087368-G-T PSPH c.200C>A p.Ala67Asp Missense 5/8 -
1-25571666-A-G RSRP1 c.647T>C p.Val216Ala Missense 3/5 -
3-57294729-C-T APPL1 c.1769C>T p.Thr590Ile Missense 19/22 -
17-53077063-T-C STXBP4 c.358T>C p.Cys120Arg Missense 6/18 -
14-20757838-C-A TTC5 c.1271G>T p.Gly424Val Missense 10/10 -
14-55611839-A-T LGALS3 c.603A>T p.Gln201His Missense 6/6 -
5-137464978-T-G NME5 c.309A>C p.Leu103Phe Missense 3/6 -
12-56600323-C-T RNF41 c.862G>A p.Val288Met Missense 7/7 -
10-17726729-G-T STAM c.181G>T p.Val61Phe Missense 3/14 -
9-139802555-A-G TRAF2 c.400A>G p.Thr134Ala Missense 5/11 -
10-17726729-G-A STAM c.181G>A p.Val61Ile Missense 3/14 -
2-202900223-C-T FZD7 c.853C>T p.Pro285Ser Missense 1/1 -
1-152785245-G-A LCE1B c.323G>A p.Gly108Glu Missense 1/1 -
13-47354101-C-T ESD c.569G>A p.Gly190Glu Missense 8/10 -
15-57524982-G-A TCF12 c.898G>A p.Gly300Ser Missense 11/20 -
15-57524982-G-T TCF12 c.898G>T p.Gly300Cys Missense 11/20 -
13-30804719-C-A KATNAL1 c.898G>T p.Ala300Ser Missense 8/11 -
17-39595574-C-A KRT38 c.613G>T p.Ala205Ser Missense 3/7 -
3-180328106-A-G TTC14 c.2089A>G p.Ser697Gly Missense 12/12 -
9-123675689-C-T TRAF1 c.622G>A p.Val208Met Missense 5/8 -
11-65715210-G-A TSGA10IP c.914G>A p.Arg305Gln Missense 3/8 -
13-50056926-G-A SETDB2 c.1246G>A p.Gly416Arg Missense 10/15 -
1-91973915-T-A CDC7 c.296T>A p.Ile99Lys Missense 4/12 -
1-91973915-T-C CDC7 c.296T>C p.Ile99Thr Missense 4/12 -
19-373508-C-T THEG c.527G>A p.Arg176Gln Missense 4/8 -
6-28264692-C-G PGBD1 c.742C>G p.Gln248Glu Missense 5/7 -
15-91485730-C-G UNC45A c.751C>G p.Gln251Glu Missense 7/20 -
15-91485730-C-T UNC45A c.751C>T p.Gln251* Nonsense 7/20 -
1-3807168-C-T C1orf174 c.583G>A p.Val195Met Missense 3/4 -
17-79650152-C-T ARL16 c.197G>A p.Gly66Asp Missense 3/5 -
17-79650152-C-G ARL16 c.197G>C p.Gly66Ala Missense 3/5 -
20-44751363-C-T CD40 c.371C>T p.Ser124Leu Missense 4/9 -
10-72164174-G-C EIF4EBP2 c.17G>C p.Gly6Ala Missense 1/3 -
10-72164174-G-A EIF4EBP2 c.17G>A p.Gly6Asp Missense 1/3 -
1-151141485-G-A SCNM1 c.617G>A p.Arg206Gln Missense 7/7 -
4-4322847-G-A ZBTB49 c.2102G>A p.Gly701Asp Missense 8/8 -
5-170827900-T-C NPM1 c.640T>C p.Ser214Pro Missense 8/11 -
X-16717075-C-T CTPS2 c.308G>A p.Arg103His Missense 3/19 -
13-37576686-T-A EXOSC8 c.116T>A p.Ile39Asn Missense 3/11 -
1-11115915-C-T SRM c.688G>A p.Val230Met Missense 6/8 -
6-30126971-G-C TRIM10 c.481C>G p.Gln161Glu Missense 2/7 -
7-144462990-C-A TPK1 c.98G>T p.Arg33Leu Missense 3/9 -
15-45361235-C-G SORD c.771C>G p.Ile257Met Missense 7/9 -
3-44762830-A-G ZNF502 c.521A>G p.Gln174Arg Missense 4/4 -
13-37580090-C-A EXOSC8 c.272C>A p.Ser91* Nonsense 6/11 -
13-37580090-C-G EXOSC8 c.272C>G p.Ser91Trp Missense 6/11 -
16-71610194-G-C TAT c.125C>G p.Ser42Cys Missense 2/12 -
11-102220814-G-A BIRC2 c.229G>A p.Val77Met Missense 2/9 -
3-39139776-G-A GORASP1 c.1274C>T p.Thr425Met Missense 9/9 -
12-110293524-C-T GLTP c.347G>A p.Arg116Gln Missense 4/5 -
11-102248377-C-G BIRC2 c.1517C>G p.Ala506Gly Missense 7/9 -
17-7530310-C-A SAT2 c.255G>T p.Lys85Asn Missense 4/6 -
15-40558145-C-T BUB1B-PAK6 c.307C>T p.Arg103Cys Missense 5/11 -
17-39140221-C-T KRT40 c.305G>A p.Ser102Asn Missense 3/9 -
12-33049492-C-T PKP2 c.174G>A p.Glu58Glu Synonymous 1/14 -
19-56156032-A-C ZNF581 c.95A>C p.Glu32Ala Missense 2/2 -
X-48213485-T-C SSX3 c.229A>G p.Thr77Ala Missense 4/8 -
9-97321404-A-G FBP2 c.836T>C p.Leu279Pro Missense 7/7 -
22-27024258-C-G CRYBA4 c.307C>G p.Arg103Gly Missense 5/6 -
1-116675909-A-G MAB21L3 c.1012A>G p.Thr338Ala Missense 7/7 -
5-162902516-T-A HMMR c.1103T>A p.Val368Asp Missense 11/18 -
18-32706953-C-T MAPRE2 c.652C>T p.Pro218Ser Missense 5/7 -
1-51439785-G-C CDKN2C c.350G>C p.Arg117Pro Missense 3/3 -
1-51439785-G-A CDKN2C c.350G>A p.Arg117Gln Missense 3/3 -
X-38182130-T-C RPGR c.223A>G p.Ile75Val Missense 3/19 -
X-37965888-G-A SYTL5 c.1198G>A p.Asp400Asn Missense 11/17 -
15-65262475-C-T SPG21 c.538G>A p.Ala180Thr Missense 6/9 -
14-81659174-G-C GTF2A1 c.622C>G p.Pro208Ala Missense 7/9 -
4-169060721-T-C ANXA10 c.185T>C p.Met62Thr Missense 3/12 -
6-139569043-T-C TXLNB c.1081A>G p.Thr361Ala Missense 8/10 -
17-72915752-C-T USH1G c.1179G>A p.Glu393Glu Synonymous 2/3 -
17-72915752-C-A USH1G c.1179G>T p.Glu393Asp Missense 2/3 -
17-39139370-G-T KRT40 c.458C>A p.Thr153Lys Missense 4/9 -
17-39139370-G-A KRT40 c.458C>T p.Thr153Met Missense 4/9 -
12-110341933-A-G TCHP c.380A>G p.Lys127Arg Missense 3/13 -
4-95223349-A-G HPGDS c.383T>C p.Met128Thr Missense 5/6 -
3-145938619-T-G PLSCR4 c.101A>C p.Asn34Thr Missense 3/9 -
15-40457337-C-T BUB1B c.119C>T p.Thr40Met Missense 2/23 -
22-43280404-G-T PACSIN2 c.773C>A p.Ser258Tyr Missense 6/11 -
22-43280401-T-C PACSIN2 c.776A>G p.Asn259Ser Missense 6/11 -
4-4304599-G-A ZBTB49 c.1036G>A p.Glu346Lys Missense 3/8 -
13-21750534-G-A SKA3 c.83C>T p.Ala28Val Missense 1/9 -
12-44177511-G-A IRAK4 c.1172G>A p.Arg391His Missense 11/13 -
8-23113997-C-T CHMP7 c.682C>T p.Arg228Cys Missense 5/11 -
3-32578505-T-C DYNC1LI1 c.830A>G p.Gln277Arg Missense 6/13 -
19-19675819-G-A PBX4 c.848C>T p.Thr283Met Missense 6/8 -
14-65009135-A-G HSPA2 c.1568A>G p.Gln523Arg Missense 1/1 -
16-53532453-C-G AKTIP c.98G>C p.Arg33Pro Missense 3/10 -
19-48543969-C-T CABP5 c.131G>A p.Arg44Gln Missense 3/6 -
3-121354620-G-C HCLS1 c.653C>G p.Pro218Arg Missense 9/14 -
19-14001206-G-C C19orf57 c.463C>G p.Leu155Val Missense 6/8 -
19-14001206-G-A C19orf57 c.463C>T p.Leu155Phe Missense 6/8 -
4-56325147-C-T CLOCK c.704G>A p.Gly235Glu Missense 11/23 -
2-25851163-C-A DTNB c.239G>T p.Arg80Leu Missense 4/20 -
2-25851163-C-T DTNB c.239G>A p.Arg80His Missense 4/20 -
2-105990062-G-C FHL2 c.285C>G p.Asn95Lys Missense 4/7 -
22-39918522-C-G ATF4 c.971C>G p.Ala324Gly Missense 2/2 -
22-39918522-C-T ATF4 c.971C>T p.Ala324Val Missense 2/2 -
1-23637261-A-T HNRNPR c.1588T>A p.Ser530Thr Missense 11/11 -
9-139266496-C-T CARD9 c.35G>A p.Ser12Asn Missense 2/13 -
1-228602686-T-C TRIM17 c.88A>G p.Thr30Ala Missense 2/7 -
10-95276973-G-C CEP55 c.961G>C p.Glu321Gln Missense 6/9 -
10-95276973-G-A CEP55 c.961G>A p.Glu321Lys Missense 6/9 -
10-95263099-G-A CEP55 c.413G>A p.Arg138Gln Missense 3/9 -
1-38464670-C-T FHL3 c.307G>A p.Ala103Thr Missense 3/6 -
1-151742689-T-C OAZ3 c.521T>C - missense_variant 4/5 -
6-24781735-C-T GMNN c.160C>T p.Arg54Trp Missense 4/7 -
7-91622236-A-G AKAP9 c.443A>G p.Gln148Arg Missense 5/50 -
7-75197518-A-T HIP1 c.788T>A p.Met263Lys Missense 9/31 -
6-24781719-G-C GMNN c.144G>C p.Leu48Phe Missense 4/7 -
9-97329610-T-C FBP2 c.647A>G p.Tyr216Cys Missense 5/7 -
17-39137297-C-T KRT40 c.794G>A p.Cys265Tyr Missense 6/9 -
1-153534027-C-T S100A2 c.185G>A - missense_variant 3/3 -
8-95479680-G-C RAD54B c.88C>G p.Leu30Val Missense 2/15 -
11-61675644-T-C RAB3IL1 c.146A>G p.Gln49Arg Missense 2/10 -
16-88039818-C-T BANP c.485C>T p.Ala162Val Missense 5/12 -
1-32647133-C-G TXLNA c.460C>G p.Arg154Gly Missense 3/11 -
6-24784754-A-G GMNN c.440A>G p.His147Arg Missense 6/7 -
11-124564263-G-A SPA17 c.377G>A p.Arg126Gln Missense 5/5 -
1-146639505-C-T PRKAB2 c.164G>A p.Gly55Glu Missense 3/8 -
3-149193623-C-A TM4SF4 c.188C>A p.Ala63Glu Missense 2/5 -
19-8577305-T-C ZNF414 c.496A>G p.Ser166Gly Missense 4/6 -
4-124322855-G-A SPRY1 c.109G>A p.Ala37Thr Missense 3/3 -
17-7577091-G-A TP53 c.847C>T p.Arg283Cys Missense 8/11 -
19-44739328-C-T ZNF227 c.745C>T p.Pro249Ser Missense 6/6 -
12-53223865-T-C KRT79 c.797A>G p.His266Arg Missense 4/9 -
5-150444568-T-G TNIP1 c.89A>C p.Lys30Thr Missense 2/18 -
19-57722962-G-A ZNF264 c.497G>A p.Gly166Asp Missense 4/4 -
2-98264555-A-G COX5B c.374A>G p.Gln125Arg Missense 4/4 -
2-198607803-C-T BOLL c.810G>A p.Met270Ile Missense 10/11 -
5-86703854-T-G CCNH c.464A>C p.Asn155Thr Missense 4/9 -
14-105639473-G-A NUDT14 c.554C>T p.Pro185Leu Missense 5/5 -
1-24125170-G-A GALE c.172C>T p.Arg58Cys Missense 4/12 -
17-7496382-C-T FXR2 c.1448G>A p.Arg483Gln Missense 13/17 -
3-33906823-G-C PDCD6IP c.2348G>C p.Gly783Ala Missense 17/18 -
1-25573016-A-G RSRP1 c.439T>C p.Tyr147His Missense 2/5 -
16-4833551-T-C SEPT12 c.638A>G p.Gln213Arg Missense 7/10 -
3-37092019-G-A MLH1 c.2146G>A p.Val716Met Missense 19/19 -
3-37092019-G-T MLH1 c.2146G>T p.Val716Leu Missense 19/19 -
17-7577091-G-T TP53 c.847C>A p.Arg283Ser Missense 8/11 -
19-49334972-G-A HSD17B14 c.322C>T p.Arg108Cys Missense 5/9 -
13-21732137-G-A SKA3 c.1043C>T p.Thr348Met Missense 7/9 -
1-15821810-G-A CASP9 c.757C>T p.Pro253Ser Missense 7/9 -
18-48573524-A-G SMAD4 c.108A>G p.Ala36Ala Synonymous 2/12 -
1-24123212-T-C GALE c.770A>G p.Lys257Arg Missense 9/12 -
6-33541855-G-C BAK1 c.487C>G p.Leu163Val Missense 5/6 -
6-33541855-G-A BAK1 c.487C>T p.Leu163Leu Synonymous 5/6 -
15-41605529-A-G OIP5 c.536T>C p.Ile179Thr Missense 4/5 -