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RC-K8 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1431 mutations reported
491 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
NKAPENSG00000101882ENST00000371410p.R361Qc.1082G>ASubstitution - Missense
GPR113ENSG00000173567ENST00000333478p.E533Kc.1597G>ASubstitution - Missense
NTF3ENSG00000185652ENST00000331010p.R241Wc.721C>TSubstitution - Missense
TNFAIP3ENSG00000118503ENST00000237289p.C721fs*71c.2161delTDeletion - Frameshift
NBPF3ENSG00000142794ENST00000342104p.G334*c.1000G>TSubstitution - Nonsense
SYT15ENSG00000204176ENST00000374321p.K133Ec.397A>GSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.K133Ec.397A>GSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.?c.1260+9T>CUnknown
PARD3ENSG00000148498ENST00000374789p.T661Ic.1982C>TSubstitution - Missense
EXTL2ENSG00000162694ENST00000450240p.I221Tc.662T>CSubstitution - Missense
HS6ST3ENSG00000185352ENST00000376705p.T461Tc.1383C>TSubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.A976Ac.2928C>ASubstitution - coding silent
SLITRK5ENSG00000165300ENST00000325089p.T601Ic.1802C>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.R146Qc.437G>ASubstitution - Missense
TCTN1ENSG00000204852ENST00000551590p.A389Vc.1166C>TSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.S151Fc.452C>TSubstitution - Missense
HOXC8ENSG00000037965ENST00000040584p.R27Lc.80G>TSubstitution - Missense
KRT79ENSG00000185640ENST00000330553p.D158Nc.472G>ASubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.G801Wc.2401G>TSubstitution - Missense
INTS7ENSG00000143493ENST00000366994p.S146Gc.436A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V3742Ic.11224G>ASubstitution - Missense
ENST00000405167p.A3742Tc.11224G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.A1387Ac.4161G>ASubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.A981Ac.2943G>ASubstitution - coding silent
ENST00000361590p.T376Tc.1128G>ASubstitution - coding silent
SGK1ENSG00000118515ENST00000367858p.N140Kc.420C>GSubstitution - Missense
ZNF439ENSG00000171291ENST00000304030p.E177Qc.529G>CSubstitution - Missense
ZNF790ENSG00000197863ENST00000356725p.H408Pc.1223A>CSubstitution - Missense
GOPCENSG00000047932ENST00000368498p.A164Tc.490G>ASubstitution - Missense
LRIG3ENSG00000139263ENST00000320743p.L254Ic.760C>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.R1653Lc.4958G>TSubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.C786Fc.2357G>TSubstitution - Missense
VMP1ENSG00000062716ENST00000262291p.R394Qc.1181G>ASubstitution - Missense
NM_032217.3p.L338Pc.1013T>CSubstitution - Missense
ELAVL2ENSG00000107105ENST00000380117p.A333Vc.998C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.A48Sc.142G>TSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.T2153Tc.6459C>TSubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.A1757Tc.5269G>ASubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.R410Wc.1228C>TSubstitution - Missense
ZNF770ENSG00000198146ENST00000356321p.Y151_M153delYSMc.451_459delTATAGCATGDeletion - In frame
PABPC1ENSG00000070756ENST00000318607p.R94Hc.281G>ASubstitution - Missense
LRRC4ENSG00000128594ENST00000249363p.R96Cc.286C>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.S1334Sc.4002C>TSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.T3003Tc.9009G>ASubstitution - coding silent
TCF7ENSG00000081059ENST00000378560p.T261Tc.783G>ASubstitution - coding silent
PCDHA3ENSG00000255408ENST00000522353p.R619Hc.1856G>ASubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.A667Vc.2000C>TSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.E280delEc.826_828delGAGDeletion - In frame
LPHN3ENSG00000150471ENST00000512091p.S410Fc.1229C>TSubstitution - Missense
OR5J2ENSG00000174957ENST00000312298p.R122Hc.365G>ASubstitution - Missense
CCDC102BENSG00000150636ENST00000360242p.R278Cc.832C>TSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.A1806Ac.5418C>TSubstitution - coding silent
CADPSENSG00000163618ENST00000283269p.R839Hc.2516G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.D1728Nc.5182G>ASubstitution - Missense
PDX1ENSG00000139515ENST00000381033p.A141Tc.421G>ASubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.P346Pc.1038T>GSubstitution - coding silent
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
ANO6ENSG00000177119ENST00000320560p.L753Pc.2258T>CSubstitution - Missense
IRAK4ENSG00000198001ENST00000448290p.H306Nc.916C>ASubstitution - Missense
IRAK4ENSG00000198001ENST00000448290p.H306Nc.916C>ASubstitution - Missense
TMEM180ENSG00000138111ENST00000238936p.A365Vc.1094C>TSubstitution - Missense
PITX3ENSG00000107859ENST00000370002p.M89Ic.267G>ASubstitution - Missense
GOT1ENSG00000120053ENST00000370508p.P300Pc.900C>TSubstitution - coding silent
KCNK18ENSG00000186795ENST00000334549p.A156Pc.466G>CSubstitution - Missense
C1orf100ENSG00000173728ENST00000308105p.P17Pc.51G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.Y4287Hc.12859T>CSubstitution - Missense
EEA1ENSG00000102189ENST00000322349p.I220Mc.660A>GSubstitution - Missense
ENST00000251757p.?c.1894-8C>TUnknown
TMEM80ENSG00000177042ENST00000397510p.T123Tc.369C>TSubstitution - coding silent
IGHMBP2ENSG00000132740ENST00000255078p.H122Hc.366C>TSubstitution - coding silent
TCIRG1ENSG00000110719ENST00000265686p.R327Gc.979C>GSubstitution - Missense
RAD9AENSG00000172613ENST00000307980p.D274Nc.820G>ASubstitution - Missense
BBS1ENSG00000174483ENST00000318312p.K430Nc.1290G>CSubstitution - Missense
RIPK3ENSG00000129465ENST00000216274p.P421Sc.1261C>TSubstitution - Missense
SLC7A8ENSG00000092068ENST00000316902p.?c.789-9C>TUnknown
MMP21ENSG00000154485ENST00000368808p.A199Ac.597G>ASubstitution - coding silent
EDRF1ENSG00000107938ENST00000356792p.T796Ic.2387C>TSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G276Gc.828C>GSubstitution - coding silent
PGM2L1ENSG00000165434ENST00000298198p.?c.1633-4A>TUnknown
ALPK3ENSG00000136383ENST00000258888p.A1314Sc.3940G>TSubstitution - Missense
IL16ENSG00000172349ENST00000302987p.H576Hc.1728C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.F566Fc.1698C>TSubstitution - coding silent
KANSL2ENSG00000139620ENST00000420613p.D146Dc.438C>TSubstitution - coding silent
KANSL2ENSG00000139620ENST00000420613p.D146Dc.438C>TSubstitution - coding silent
RECQLENSG00000004700ENST00000444129p.S5Ac.13T>GSubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.Q469Qc.1407A>GSubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.L580Fc.1738C>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.L580Fc.1738C>TSubstitution - Missense
HIST4H4ENSG00000197837ENST00000358064p.Q94Hc.282G>CSubstitution - Missense
CHFRENSG00000072609ENST00000432561p.P345Pc.1035C>TSubstitution - coding silent
TCEA3ENSG00000204219ENST00000450454p.E100Kc.298G>ASubstitution - Missense
IRF2BP2ENSG00000168264ENST00000366609p.K164Kc.492G>ASubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.T169Tc.507C>TSubstitution - coding silent
OSBPL8ENSG00000091039ENST00000261183p.G3Vc.8G>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.P538Lc.1613C>TSubstitution - Missense
SLC26A10ENSG00000135502ENST00000379218p.M437Ic.1311G>TSubstitution - Missense
CCT3ENSG00000163468ENST00000295688p.V218Ac.653T>CSubstitution - Missense
ART1ENSG00000129744ENST00000250693p.P94Sc.280C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.G4984Gc.14952C>TSubstitution - coding silent
ROBO4ENSG00000154133ENST00000306534p.C928*c.2784C>ASubstitution - Nonsense
ROBO4ENSG00000154133ENST00000306534p.P350Sc.1048C>TSubstitution - Missense
OR10S1ENSG00000196248ENST00000531945p.C193Cc.579C>TSubstitution - coding silent
TMEM254ENSG00000133678ENST00000372281p.F49fs*25c.128_129insTGGGCCCCInsertion - Frameshift
TMEM254ENSG00000133678ENST00000372281p.F49fs*25c.145_146insGGGCCCCTInsertion - Frameshift
TMEM254ENSG00000133678ENST00000372273p.F70fs*25c.207_208insGGGCCCCTInsertion - Frameshift
NM_020824.2p.P740Sc.2218C>TSubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.R316Qc.947G>ASubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.A974Ac.2922G>ASubstitution - coding silent
CLCN7ENSG00000103249ENST00000382745p.D595Dc.1785C>TSubstitution - coding silent
MINOS1ENSG00000173436ENST00000322753p.W10*c.29G>ASubstitution - Nonsense
CRB1ENSG00000134376ENST00000367400p.F247Fc.741C>TSubstitution - coding silent
EHFENSG00000135373ENST00000257831p.N81Nc.243C>TSubstitution - coding silent
DCDC1ENSG00000170959ENST00000452803p.R344Gc.1030A>GSubstitution - Missense
DCDC1ENSG00000170959ENST00000342355p.P515Ac.1543C>GSubstitution - Missense
NLRP6ENSG00000174885ENST00000312165p.L381Lc.1141C>TSubstitution - coding silent
LIN7CENSG00000148943ENST00000278193p.?c.156+10C>TUnknown
NM_207429.2p.C111Yc.332G>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.?c.8419-8A>GUnknown
ATMENSG00000149311ENST00000278616p.?c.8419-8A>GUnknown
ENST00000282251_v68p.E330Ac.989A>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1914Tc.5742T>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.T1914Tc.5742T>GSubstitution - coding silent
PDZD3ENSG00000172367ENST00000322712p.A299Tc.895G>ASubstitution - Missense
PDZD3ENSG00000172367ENST00000531114p.A379Tc.1135G>ASubstitution - Missense
NM_005933.1p.N1623Nc.4869C>TSubstitution - coding silent
USP28ENSG00000048028ENST00000003302p.?c.622-4A>GUnknown
SDHDENSG00000204370ENST00000375549p.?c.50_52+2delGAGgtUnknown
GPR162ENSG00000250510ENST00000311268p.T563Mc.1688C>TSubstitution - Missense
NCF2ENSG00000116701ENST00000367536p.R66Qc.197G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.K2090Mc.6269A>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.K2047Mc.6140A>TSubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.Q276Pc.827A>CSubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.Q771Qc.2313G>ASubstitution - coding silent
SPENENSG00000065526ENST00000375759p.S1364Gc.4090A>GSubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.K395Mc.1184A>TSubstitution - Missense
C1orf226ENSG00000239887ENST00000426197p.G121Sc.361G>ASubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.R744Qc.2231G>ASubstitution - Missense
ENST00000220188p.Q105Hc.315G>TSubstitution - Missense
ENST00000220188p.C192*c.576C>ASubstitution - Nonsense
TJP1ENSG00000104067ENST00000346128p.P169Lc.506C>TSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
MKRN3ENSG00000179455ENST00000314520p.R346Sc.1038G>TSubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.R171Qc.512G>ASubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.L513Lc.1537C>TSubstitution - coding silent
TP73ENSG00000078900ENST00000378295p.H197Dc.589C>GSubstitution - Missense
TP73ENSG00000078900ENST00000378288p.H148Dc.442C>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.?c.10304+5C>TUnknown
CSMD2ENSG00000121904ENST00000373381p.?c.10736+5C>TUnknown
ENST00000326544p.M624Vc.1870A>GSubstitution - Missense
PRRX1ENSG00000116132ENST00000367760p.R98Mc.293G>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.?c.2133-6T>AUnknown
BRCA2ENSG00000139618ENST00000544455p.D1728Nc.5182G>ASubstitution - Missense
POLR2MENSG00000255529ENST00000299638p.A181Vc.542C>TSubstitution - Missense
POLR2MENSG00000255529ENST00000380563p.A181Vc.542C>TSubstitution - Missense
MFSD4ENSG00000174514ENST00000367147p.N177Nc.531C>TSubstitution - coding silent
RBBP5ENSG00000117222ENST00000264515p.T365Kc.1094C>ASubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.V2376Ic.7126G>ASubstitution - Missense
EFNA1ENSG00000169242ENST00000368407p.R110Hc.329G>ASubstitution - Missense
ZBTB7BENSG00000160685ENST00000292176p.S262Pc.784T>CSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.R2130Rc.6388A>CSubstitution - coding silent
C2CD5ENSG00000111731ENST00000333957p.?c.2446+5A>GUnknown
LRRK1ENSG00000154237ENST00000284395p.T1560Tc.4680G>ASubstitution - coding silent
ENST00000355909p.N11Kc.33C>ASubstitution - Missense
MIA2ENSG00000150526ENST00000280082p.I623Vc.1867A>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.P865Sc.2593C>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.P833Sc.2497C>TSubstitution - Missense
C1orf177ENSG00000162398ENST00000358193p.S228Sc.684C>GSubstitution - coding silent
ZFYVE9ENSG00000157077ENST00000287727p.P469fs*35c.1399_1400insACInsertion - Frameshift
TGM5ENSG00000104055ENST00000220420p.Q170Rc.509A>GSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.A1487Tc.4459G>ASubstitution - Missense
ENST00000357301p.P25Lc.74C>TSubstitution - Missense
XCL1ENSG00000143184ENST00000367818p.T37Tc.111C>GSubstitution - coding silent
PI4KBENSG00000143393ENST00000368875p.?c.1218+3A>TUnknown
PLEKHO1ENSG00000023902ENST00000369124p.S93Nc.278G>ASubstitution - Missense
MAN1A2ENSG00000198162ENST00000356554p.T537Tc.1611C>TSubstitution - coding silent
NM_000036.1p.I491Ic.1473C>TSubstitution - coding silent
DCLRE1BENSG00000118655ENST00000369563p.M327Vc.979A>GSubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.Y905Yc.2715C>TSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392473p.L37fs*7c.109delCDeletion - Frameshift
MLECENSG00000110917ENST00000228506p.V76Gc.227T>GSubstitution - Missense
PXNENSG00000089159ENST00000228307p.V510Mc.1528G>ASubstitution - Missense
PXNENSG00000089159ENST00000424649p.V476Mc.1426G>ASubstitution - Missense
LHX5ENSG00000089116ENST00000261731p.S176Pc.526T>CSubstitution - Missense
HPCAL4ENSG00000116983ENST00000372844p.R70Rc.210C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.R5196Wc.15586C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.R4694Wc.14080C>TSubstitution - Missense
RHBDL2ENSG00000158315ENST00000372985p.S205Sc.615A>CSubstitution - coding silent
KCNK7ENSG00000173338ENST00000394217p.F121Lc.363C>GSubstitution - Missense
LTBP3ENSG00000168056ENST00000322147p.A948Vc.2843C>TSubstitution - Missense
CDCA5ENSG00000146670ENST00000275517p.L205fs*13c.614_615delTCDeletion - Frameshift
MRPS16ENSG00000182180ENST00000372945p.R20Hc.59G>ASubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.E43Kc.127G>ASubstitution - Missense
NOXRED1ENSG00000165555ENST00000380835p.?c.531-7C>TUnknown
NOXRED1ENSG00000165555ENST00000298358p.?c.531-7C>TUnknown
SLC10A1ENSG00000100652ENST00000216540p.S7Fc.20C>TSubstitution - Missense
ZFP36L1ENSG00000185650ENST00000336440p.L144Fc.430C>TSubstitution - Missense
NSMAFENSG00000035681ENST00000038176p.R706Cc.2116C>TSubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.L104Lc.312C>TSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.S1539Fc.4616C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E198delEc.593_595delAAGDeletion - In frame
NM_003319p.E198delEc.593_595delAAGDeletion - In frame
TTNENSG00000155657ENST00000342992p.A1080Ac.3240C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A1034Ac.3102C>TSubstitution - coding silent
ENST00000356127p.A1080Ac.3240C>TSubstitution - coding silent
NM_003319p.A1034Ac.3102C>TSubstitution - coding silent
NM_003319p.A3709Vc.11126C>TSubstitution - Missense
FLRT3ENSG00000125848ENST00000378053p.D277Yc.829G>TSubstitution - Missense
NDUFAF5ENSG00000101247ENST00000378106p.T206Tc.618G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.M611Ic.1833G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.M611Ic.1833G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.R3282Tc.9845G>CSubstitution - Missense
CRHR1ENSG00000120088ENST00000314537p.R225Qc.674G>ASubstitution - Missense
GABARAPL2ENSG00000034713ENST00000037243p.?c.90+9A>CUnknown
ADAT1ENSG00000065457ENST00000307921p.?c.1043+2T>AUnknown
WDR24ENSG00000127580ENST00000248142p.?c.819-3C>AUnknown
EGFLAMENSG00000164318ENST00000354891p.L690Hc.2069T>ASubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.L690Hc.2069T>ASubstitution - Missense
LMBRD2ENSG00000164187ENST00000296603p.P94Sc.280C>TSubstitution - Missense
C15orf41ENSG00000186073ENST00000437989p.A38Pc.112G>CSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.V1568Ec.4703T>ASubstitution - Missense
GAS6ENSG00000183087ENST00000357389p.?c.1583_1606+1457del1481Unknown
HSP90AA1ENSG00000080824ENST00000334701p.E169Ec.507G>ASubstitution - coding silent
FNBP1LENSG00000137942ENST00000271234p.R410Hc.1229G>ASubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.C260Cc.780T>CSubstitution - coding silent
ENSG00000273259ENST00000553947p.R323Wc.967C>TSubstitution - Missense
ENSG00000273259ENST00000393078p.R298Wc.892C>TSubstitution - Missense
SERPINA4ENSG00000100665ENST00000557004p.L357Rc.1070T>GSubstitution - Missense
ASB2ENSG00000100628ENST00000315988p.?c.168-9C>TUnknown
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
KCNK10ENSG00000100433ENST00000312350p.I323Ic.969C>TSubstitution - coding silent
ZBTB1ENSG00000126804ENST00000358738p.T281Mc.842C>TSubstitution - Missense
SSX2IPENSG00000117155ENST00000342203p.L281Fc.841C>TSubstitution - Missense
FAM73AENSG00000180488ENST00000370791p.P70Pc.210G>ASubstitution - coding silent
SRSF11ENSG00000116754ENST00000370949p.P94Sc.280C>TSubstitution - Missense
EFCAB7ENSG00000203965ENST00000371088p.Q271Kc.811C>ASubstitution - Missense
ICMTENSG00000116237ENST00000343813p.?c.454+3_454+65del63Unknown
MAP3K6ENSG00000142733ENST00000493901p.?c.2583+7C>AUnknown
MAP3K6ENSG00000142733ENST00000493901p.T175Kc.524C>ASubstitution - Missense
SRRM1ENSG00000133226ENST00000323848p.R589_Y604>Hc.1766_1810del45Complex - deletion inframe
OR2L8ENSG00000196936ENST00000357191p.P282Lc.845C>TSubstitution - Missense
MXRA8ENSG00000162576ENST00000309212p.L320Vc.958C>GSubstitution - Missense
LOH12CR1ENSG00000165714ENST00000314565p.D171Hc.511G>CSubstitution - Missense
MANSC1ENSG00000111261ENST00000535902p.A292Vc.875C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.K679Kc.2037G>ASubstitution - coding silent
ENST00000298047_v61p.K679Kc.2037G>ASubstitution - coding silent
SCUBE2ENSG00000175356ENST00000309263p.G810Rc.2428G>ASubstitution - Missense
RRP1ENSG00000160214ENST00000497547p.C274Yc.821G>ASubstitution - Missense
TFF2ENSG00000160181ENST00000291526p.D5Ec.15C>ASubstitution - Missense
TRMT1ENSG00000104907ENST00000357720p.T628Ic.1883C>TSubstitution - Missense
GCDHENSG00000105607ENST00000222214p.S305Sc.915G>ASubstitution - coding silent
CALRENSG00000179218ENST00000316448p.Y172*c.516C>GSubstitution - Nonsense
MIDNENSG00000167470ENST00000300952p.R409Rc.1227G>ASubstitution - coding silent
RGL3ENSG00000205517ENST00000380456p.R593Qc.1778G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.I99Tc.296T>CSubstitution - Missense
TRAPPC8ENSG00000153339ENST00000283351p.V1123Vc.3369G>TSubstitution - coding silent
NPTX1ENSG00000171246ENST00000306773p.G98Gc.294A>GSubstitution - coding silent
ENST00000411702p.N4225Sc.12674A>GSubstitution - Missense
ENST00000411702p.I5009Ic.15027C>TSubstitution - coding silent
GIT1ENSG00000108262ENST00000394869p.R347*c.1039C>TSubstitution - Nonsense
GIT1ENSG00000108262ENST00000225394p.R338*c.1012C>TSubstitution - Nonsense
PHF12ENSG00000109118ENST00000332830p.C300Cc.900C>TSubstitution - coding silent
NM_012417.2p.?c.618+6T>GUnknown
CACNG1ENSG00000108878ENST00000226021p.W180*c.539G>ASubstitution - Nonsense
INTS2ENSG00000108506ENST00000444766p.A424Sc.1270G>TSubstitution - Missense
WWP1ENSG00000123124ENST00000517970p.R488Sc.1464A>TSubstitution - Missense
ENST00000318252p.G3259Gc.9777A>GSubstitution - coding silent
ADAM7ENSG00000069206ENST00000175238p.R213Cc.637C>TSubstitution - Missense
MUSTN1ENSG00000272573ENST00000446157p.?c.10-3A>TUnknown
NPR2ENSG00000159899ENST00000342694p.M880Ic.2640G>TSubstitution - Missense
SMU1ENSG00000122692ENST00000397149p.V59Vc.177G>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.S569Tc.1705T>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S569Tc.1705T>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.A1800Tc.5398G>ASubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.R817Hc.2450G>ASubstitution - Missense
C20orf85ENSG00000124237ENST00000371168p.*138Rc.412T>CNonstop extension
PFDN4ENSG00000101132ENST00000371419p.T30Rc.89C>GSubstitution - Missense
TGM2ENSG00000198959ENST00000361475p.R35Rc.105G>TSubstitution - coding silent
MYH7BENSG00000078814ENST00000262873p.R1869Wc.5605C>TSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.L242Vc.724T>GSubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.A597Ac.1791G>ASubstitution - coding silent
KLK12ENSG00000186474ENST00000525263p.M245Ic.735G>ASubstitution - Missense
KLK9ENSG00000213022ENST00000376832p.W148*c.443G>ASubstitution - Nonsense
SLC17A7ENSG00000104888ENST00000221485p.G449Gc.1347C>TSubstitution - coding silent
ZNF554ENSG00000172006ENST00000317243p.S420Sc.1260C>TSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.F1050Fc.3150T>CSubstitution - coding silent
EVPLENSG00000167880ENST00000301607p.V1070Mc.3208G>ASubstitution - Missense
FAM83GENSG00000188522ENST00000345041p.D564fs*3c.1689_1690insCCAGGATInsertion - Frameshift
LRRC48ENSG00000171962ENST00000411504p.L272Lc.816C>ASubstitution - coding silent
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.G825Dc.2474G>ASubstitution - Missense
GPRASP1ENSG00000198932ENST00000415986p.F192Sc.575T>CSubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.E135Kc.403G>ASubstitution - Missense
CLEC4GENSG00000182566ENST00000328853p.T270Tc.810G>ASubstitution - coding silent
CD70ENSG00000125726ENST00000245903p.?c.196+3A>TUnknown
ENST00000429478p.V1352Lc.4054G>CSubstitution - Missense
PAK3ENSG00000077264ENST00000360648p.?c.1653+4A>GUnknown
NSMAFENSG00000035681ENST00000427130p.R737Cc.2209C>TSubstitution - Missense
AGXTENSG00000172482ENST00000307503p.I340Tc.1019T>CSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.P627Pc.1881C>TSubstitution - coding silent
CAPN10ENSG00000142330ENST00000391984p.P95Lc.284C>TSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R426Sc.1276C>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R426Sc.1276C>ASubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.H324Qc.972T>GSubstitution - Missense
ENSG00000182329ENST00000295844p.S509Sc.1527C>TSubstitution - coding silent
SGOL2ENSG00000163535ENST00000357799p.D447Nc.1339G>ASubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.?c.3336-1G>AUnknown
RAD51AP2ENSG00000214842ENST00000399080p.S1030Lc.3089C>TSubstitution - Missense
CST5ENSG00000170367ENST00000304710p.?c.231+3G>TUnknown
HSPBP1ENSG00000133265ENST00000255631p.R40Rc.120G>CSubstitution - coding silent
SPDYE4ENSG00000183318ENST00000328794p.R7Hc.20G>ASubstitution - Missense
MFSD6LENSG00000185156ENST00000329805p.R489Rc.1467G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.D211Nc.631G>ASubstitution - Missense
ENSG00000173213ENST00000308911p.T107Tc.321A>CSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.G2816Rc.8446G>ASubstitution - Missense
VPS37AENSG00000155975ENST00000324849p.S328Sc.984T>CSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.R846Cc.2536C>TSubstitution - Missense
ENST00000292520p.R687Cc.2059C>TSubstitution - Missense
GPAA1ENSG00000197858ENST00000355091p.G438Ac.1313G>CSubstitution - Missense
PLECENSG00000178209ENST00000436759p.A2838Tc.8512G>ASubstitution - Missense
MROH6ENSG00000204839ENST00000398882p.S582Gc.1744A>GSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.?c.7764+8C>TUnknown
AKAP9ENSG00000127914ENST00000356239p.I1498Nc.4493T>ASubstitution - Missense
NM_147171.1p.I1510Nc.4529T>ASubstitution - Missense
FAM180AENSG00000189320ENST00000338588p.S100Tc.299G>CSubstitution - Missense
HIST1H4EENSG00000198518ENST00000360441p.A70Gc.209C>GSubstitution - Missense
HIST1H4EENSG00000198518ENST00000360441p.H76Yc.226C>TSubstitution - Missense
HIST1H3EENSG00000196966ENST00000360408p.T23Ac.67A>GSubstitution - Missense
HIST1H3EENSG00000196966ENST00000360408p.P31Pc.93G>ASubstitution - coding silent
ENST00000540262p.A395Tc.1183G>ASubstitution - Missense
DEKENSG00000124795ENST00000397239p.Q345Qc.1035G>ASubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.Y4016Yc.12048T>CSubstitution - coding silent
ENST00000273600p.Y4080Yc.12240T>CSubstitution - coding silent
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
USP19ENSG00000172046ENST00000434032p.F296Fc.888C>TSubstitution - coding silent
ENST00000404649p.T54Kc.161C>ASubstitution - Missense
C21orf91ENSG00000154642ENST00000284881p.V86Ac.257T>CSubstitution - Missense
USP25ENSG00000155313ENST00000285679p.T1006Tc.3018A>TSubstitution - coding silent
CASC3ENSG00000108349ENST00000264645p.T295Ac.883A>GSubstitution - Missense
BBS2ENSG00000125124ENST00000245157p.H248Hc.744T>CSubstitution - coding silent
MOB1BENSG00000173542ENST00000309395p.Q172Qc.516G>ASubstitution - coding silent
PROS1ENSG00000184500ENST00000394236p.T214Pc.640A>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.D394Yc.1180G>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
ENST00000397787p.A97Ac.291G>ASubstitution - coding silent
KRTAP10-1ENSG00000215455ENST00000400375p.Q68Qc.204A>GSubstitution - coding silent
ITGA9ENSG00000144668ENST00000264741p.E912Gc.2735A>GSubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.?c.359-6C>TUnknown
RGPD3ENSG00000153165ENST00000409886p.S1456Sc.4368G>TSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.S1456Sc.4368G>TSubstitution - coding silent
TMEM104ENSG00000109066ENST00000335464p.T92Ac.274A>GSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.R693Rc.2079G>ASubstitution - coding silent
XM_497119.1p.R693Rc.2079G>ASubstitution - coding silent
PIM2ENSG00000102096ENST00000376509p.?c.171+5C>GUnknown
GATA1ENSG00000102145ENST00000376670p.H71Rc.212A>GSubstitution - Missense
XM_498354.1p.P469Sc.1405C>TSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.M223Vc.667A>GSubstitution - Missense
TACC1ENSG00000147526ENST00000317827p.E529Kc.1585G>ASubstitution - Missense
MEPEENSG00000152595ENST00000361056p.N449Nc.1347C>TSubstitution - coding silent
CDS1ENSG00000163624ENST00000295887p.V318Mc.952G>ASubstitution - Missense
FAM175AENSG00000163322ENST00000321945p.D364Ec.1092T>ASubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.P368Pc.1104C>TSubstitution - coding silent
AIMP1ENSG00000164022ENST00000442366p.T109Ic.326C>TSubstitution - Missense
ENST00000405167p.P2192Lc.6575C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2991Ic.8972C>TSubstitution - Missense
ENST00000405167p.D3669Gc.11006A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A3662Vc.10985C>TSubstitution - Missense
ENST00000405167p.T3662Ic.10985C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V3769Ac.11306T>CSubstitution - Missense
ENST00000405167p.P3734Ac.11200C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3733Nc.11198G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3733Gc.11197A>GSubstitution - Missense
WDR43ENSG00000163811ENST00000296126p.S148Nc.443G>ASubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.Q152fs*9c.448_473del26Deletion - Frameshift
ASPHD2ENSG00000128203ENST00000215906p.P174Sc.520C>TSubstitution - Missense
ENST00000382701p.P148Sc.442C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.?c.973+4A>GUnknown
LENG1ENSG00000105617ENST00000222224p.G171Sc.511G>ASubstitution - Missense
ENST00000355471p.L25Vc.73C>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.Q504*c.1510C>TSubstitution - Nonsense
ZNF615ENSG00000197619ENST00000376716p.V233Vc.699A>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.I1751Ic.5253C>TSubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.F1455Fc.4365C>TSubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.V535Dc.1604T>ASubstitution - Missense
SPIRE2ENSG00000204991ENST00000378247p.H478Rc.1433A>GSubstitution - Missense
FANCAENSG00000187741ENST00000389301p.A181Gc.542C>GSubstitution - Missense
RPL13ENSG00000167526ENST00000393099p.Q28Qc.84G>ASubstitution - coding silent
CDH15ENSG00000129910ENST00000289746p.?c.1992+5G>CUnknown
IL17CENSG00000124391ENST00000244241p.E80Kc.238G>ASubstitution - Missense
ENST00000356559p.R19Kc.56G>ASubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.I643Nc.1928T>ASubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.L113Lc.339T>GSubstitution - coding silent
IRAK2ENSG00000134070ENST00000256458p.L605Qc.1814T>ASubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.A69Dc.206C>ASubstitution - Missense
CEP97ENSG00000182504ENST00000341893p.L456Sc.1367T>CSubstitution - Missense
CEP97ENSG00000182504ENST00000327230p.L456Sc.1367T>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.Y689Yc.2067C>TSubstitution - coding silent
ABI3BPENSG00000154175ENST00000383691p.S6Sc.18C>TSubstitution - coding silent
SCO2ENSG00000130489ENST00000395693p.T192Tc.576C>TSubstitution - coding silent
SCO2ENSG00000130489ENST00000543927p.T192Tc.576C>TSubstitution - coding silent
DENND6BENSG00000205593ENST00000413817p.S286Lc.857C>TSubstitution - Missense
NM_181334.1p.?c.38-4G>TUnknown
NFAM1ENSG00000235568ENST00000329021p.L50Lc.148C>TSubstitution - coding silent
ATP2C1ENSG00000017260ENST00000359644p.V223Fc.667G>TSubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.R976Wc.2926C>TSubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.R883Wc.2647C>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000310351p.I552Tc.1655T>CSubstitution - Missense
PROKR1ENSG00000169618ENST00000303786p.T282Mc.845C>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.A715Ac.2145G>ASubstitution - coding silent
OBSL1ENSG00000124006ENST00000404537p.D950Nc.2848G>ASubstitution - Missense
CNPPD1ENSG00000115649ENST00000360507p.P268Lc.803C>TSubstitution - Missense
ENST00000396788p.K230Kc.690G>ASubstitution - coding silent
ENST00000396788p.Q1489Hc.4467G>CSubstitution - Missense
USP37ENSG00000135913ENST00000258399p.V794fs*46c.2380delGDeletion - Frameshift
TMBIM1ENSG00000135926ENST00000258412p.S104Cc.311C>GSubstitution - Missense
CXCR2ENSG00000180871ENST00000318507p.V78Fc.232G>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.G163Gc.489G>CSubstitution - coding silent
ENST00000381114p.R1081*c.3241A>TSubstitution - Nonsense
ENST00000381114p.R1081*c.3241A>TSubstitution - Nonsense
ENST00000381114p.G2414Vc.7241G>TSubstitution - Missense
ENST00000381114p.R2712Rc.8136G>ASubstitution - coding silent
ENST00000381114p.R2712Rc.8136G>ASubstitution - coding silent
NM_000047.1p.V112Ic.334G>ASubstitution - Missense
XM_291346.5p.A176Ac.528T>CSubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.S472Pc.1414T>CSubstitution - Missense
SLC22A1ENSG00000175003ENST00000366963p.A187Ac.561G>ASubstitution - coding silent
ARID1BENSG00000049618ENST00000346085p.D1074Nc.3220G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.E3696Ec.11088A>GSubstitution - coding silent
PPIL4ENSG00000131013ENST00000253329p.E467Kc.1399G>ASubstitution - Missense
ZFRENSG00000056097ENST00000265069p.S250Nc.749G>ASubstitution - Missense
ANKRD50ENSG00000151458ENST00000504087p.D775Yc.2323G>TSubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.D1144Nc.3430G>ASubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.?c.736-9T>AUnknown
PLCH1ENSG00000114805ENST00000334686p.?c.682-9T>AUnknown
SUCNR1ENSG00000198829ENST00000362032p.V272Ic.814G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.F223Vc.667T>GSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409088p.F222Vc.664T>GSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.T252Tc.756G>ASubstitution - coding silent
PCYOX1ENSG00000116005ENST00000433351p.A477Tc.1429G>ASubstitution - Missense
ACDENSG00000102977ENST00000219251p.T506Tc.1518G>TSubstitution - coding silent
ELMO3ENSG00000102890ENST00000393997p.E526Kc.1576G>ASubstitution - Missense
HSF4ENSG00000102878ENST00000264009p.P492Lc.1475C>TSubstitution - Missense
HSF4ENSG00000102878ENST00000264009p.G465Gc.1395C>ASubstitution - coding silent
DLEC1ENSG00000008226ENST00000346219p.T611Tc.1833A>GSubstitution - coding silent
RAD21ENSG00000164754ENST00000297338p.S277Tc.830G>CSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.Q894Ec.2680C>GSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.K1323Qc.3967A>CSubstitution - Missense
DSTENSG00000151914ENST00000370765p.K868Kc.2604A>GSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.K1194Kc.3582A>GSubstitution - coding silent
CEP85LENSG00000111860ENST00000368491p.R793Cc.2377C>TSubstitution - Missense
FAM26DENSG00000164451ENST00000368596p.G30Vc.89G>TSubstitution - Missense
REV3LENSG00000009413ENST00000358835p.I951Ic.2853T>CSubstitution - coding silent
NM_002912.1p.I873Ic.2619T>CSubstitution - coding silent
GRIK2ENSG00000164418ENST00000369138p.T858Ic.2573C>TSubstitution - Missense
FAM83FENSG00000133477ENST00000333407p.?c.779+2T>CUnknown
APOL6ENSG00000221963ENST00000409652p.A275Dc.824C>ASubstitution - Missense
TXNDC2ENSG00000168454ENST00000306084p.E460Ec.1380G>ASubstitution - coding silent
CTDP1ENSG00000060069ENST00000299543p.R179Qc.536G>ASubstitution - Missense
LRRC30ENSG00000206422ENST00000383467p.A134Ac.402C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.G1572Dc.4715G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.S2749Sc.8247C>TSubstitution - coding silent
DACH2ENSG00000126733ENST00000373125p.G85Sc.253G>ASubstitution - Missense
DACH2ENSG00000126733ENST00000373131p.G85Sc.253G>ASubstitution - Missense
RHOBTB3ENSG00000164292ENST00000379982p.?c.1282+4C>TUnknown
GPR98ENSG00000164199ENST00000405460p.R4802Qc.14405G>ASubstitution - Missense
TMEM167AENSG00000174695ENST00000502346p.?c.3+1G>TUnknown
ACSL6ENSG00000164398ENST00000379264p.Q180Ec.538C>GSubstitution - Missense
ANAPC4ENSG00000053900ENST00000315368p.R659Hc.1976G>ASubstitution - Missense
GYPEENSG00000197465ENST00000358615p.?c.38-3C>TUnknown
SETD1AENSG00000099381ENST00000262519p.E1535Kc.4603G>ASubstitution - Missense
KIF22ENSG00000079616ENST00000160827p.A363Tc.1087G>ASubstitution - Missense
FLYWCH2ENSG00000162076ENST00000293981p.?c.322+6G>TUnknown
ATP2A1ENSG00000196296ENST00000357084p.?c.325-1G>CUnknown
SLC8A2ENSG00000118160ENST00000236877p.R92Hc.275G>ASubstitution - Missense
ENST00000317082p.F794Fc.2382T>CSubstitution - coding silent
CD3EAPENSG00000117877ENST00000309424p.D8Dc.24T>CSubstitution - coding silent
BCAMENSG00000187244ENST00000270233p.Y422Yc.1266C>TSubstitution - coding silent
ZNF714ENSG00000160352ENST00000291770p.F258Lc.772T>CSubstitution - Missense
ZNF714ENSG00000160352ENST00000291770p.F153Lc.457T>CSubstitution - Missense
KIF4AENSG00000090889ENST00000374403p.?c.236-5G>TUnknown
HAUS6ENSG00000147874ENST00000380502p.L330Fc.990G>CSubstitution - Missense
CLIP2ENSG00000106665ENST00000361545p.G210Ac.629G>CSubstitution - Missense
TRIM74ENSG00000155428ENST00000285805p.W73Sc.218G>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000414785p.T163Tc.489G>ASubstitution - coding silent
ENSG00000228273ENST00000379458p.H140Hc.420C>TSubstitution - coding silent
FAXCENSG00000146267ENST00000389677p.H390Nc.1168C>ASubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.L1447Fc.4339C>TSubstitution - Missense
ENST00000315574p.C278Cc.834T>CSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.D1871Hc.5611G>CSubstitution - Missense
KIF9ENSG00000088727ENST00000265529p.S559fs*12c.1674_1675insTInsertion - Frameshift
TGM4ENSG00000163810ENST00000296125p.M475Tc.1424T>CSubstitution - Missense
ABHD5ENSG00000011198ENST00000458276p.V8Lc.22G>CSubstitution - Missense
NRCAMENSG00000091129ENST00000379022p.P141Lc.422C>TSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.S359Sc.1077C>TSubstitution - coding silent
ATP6V1G2ENSG00000213760ENST00000303892p.R90Ic.269G>TSubstitution - Missense
ENST00000539307p.E116Kc.346G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.C227Yc.680G>ASubstitution - Missense
ENST00000539307p.C264Yc.791G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.C227Yc.680G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.?c.619+1G>AUnknown
MDC1ENSG00000137337ENST00000376406p.R512Kc.1535G>ASubstitution - Missense
HIST1H2AMENSG00000233224ENST00000359611p.L86Vc.256C>GSubstitution - Missense
HIST1H4KENSG00000197914ENST00000357549p.D86Nc.256G>ASubstitution - Missense
HIST1H2BKENSG00000197903ENST00000396891p.S37Rc.111C>GSubstitution - Missense
HIST1H2BKENSG00000197903ENST00000356950p.S37Rc.111C>GSubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.P434Sc.1300C>TSubstitution - Missense
HMMRENSG00000072571ENST00000358715p.D454Dc.1362T>CSubstitution - coding silent
C1QTNF2ENSG00000145861ENST00000393975p.G157Ec.470G>ASubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.N539Kc.1617C>ASubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.A735Tc.2203G>ASubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.H661Hc.1983C>TSubstitution - coding silent
ENST00000378129p.K593Nc.1779G>TSubstitution - Missense
MAGEA6ENSG00000197172ENST00000329342p.S110Gc.328A>GSubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.?c.831+8C>TUnknown
PTPRDENSG00000153707ENST00000537002p.A977Ac.2931G>ASubstitution - coding silent
MAMDC4ENSG00000177943ENST00000445819p.L15Lc.43C>TSubstitution - coding silent
OLFM1ENSG00000130558ENST00000252854p.N289Nc.867C>TSubstitution - coding silent
WDR5ENSG00000196363ENST00000358625p.?c.444+1G>TUnknown
VAV2ENSG00000160293ENST00000406606p.S345Fc.1034C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
SURF4ENSG00000148248ENST00000371989p.L212Lc.636C>TSubstitution - coding silent
PRELID2ENSG00000186314ENST00000334744p.R127Wc.379C>TSubstitution - Missense
MCCC1ENSG00000078070ENST00000265594p.G572Ac.1715G>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.T1574Sc.4720A>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.R1627*c.4879C>TSubstitution - Nonsense
PRODH2ENSG00000250799ENST00000301175p.R506Wc.1516C>TSubstitution - Missense
ENSG00000272333ENST00000222270p.R2106Rc.6318G>ASubstitution - coding silent
HEATR6ENSG00000068097ENST00000184956p.A22Vc.65C>TSubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.E170Kc.508G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.F93Ic.277T>ASubstitution - Missense
ERLEC1ENSG00000068912ENST00000185150p.C244Fc.731G>TSubstitution - Missense
ABCG5ENSG00000138075ENST00000260645p.E255*c.763G>TSubstitution - Nonsense
ACACAENSG00000132142ENST00000353139p.?c.5063_5079+2del19Unknown
ACACAENSG00000132142ENST00000360679p.?c.4778_4794+2del19Unknown
MYO19ENSG00000141140ENST00000431794p.A68Gc.203C>GSubstitution - Missense
UFL1ENSG00000014123ENST00000369278p.M477Kc.1430T>ASubstitution - Missense
ENSG00000272514ENST00000369562p.R254Gc.760A>GSubstitution - Missense
SGK1ENSG00000118515ENST00000413996p.?c.705-3C>TUnknown
SGK1ENSG00000118515ENST00000237305p.?c.663-3C>TUnknown
TBPL1ENSG00000028839ENST00000237264p.?c.219-6C>TUnknown
ENPP3ENSG00000154269ENST00000427148p.L106Lc.318G>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.P830Lc.2489C>TSubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.I1638Vc.4912A>GSubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.G204Dc.611G>ASubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.V252Dc.755T>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.P1520Lc.4559C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.P1520Lc.4559C>TSubstitution - Missense
PIP5KL1ENSG00000167103ENST00000388747p.R217Kc.650G>ASubstitution - Missense
PIP5KL1ENSG00000167103ENST00000300432p.R14Kc.41G>ASubstitution - Missense
FAM102AENSG00000167106ENST00000373095p.?c.146+7G>AUnknown
RABGAP1ENSG00000011454ENST00000373647p.P556Pc.1668G>ASubstitution - coding silent
OR1L8ENSG00000171496ENST00000304865p.F244Yc.731T>ASubstitution - Missense
OR1L8ENSG00000171496ENST00000304865p.F244Yc.731T>ASubstitution - Missense
PTGS1ENSG00000095303ENST00000362012p.H512Hc.1536T>CSubstitution - coding silent
GSNENSG00000148180ENST00000373818p.A47Gc.140C>GSubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.N203Sc.608A>GSubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.T1585Ic.4754C>TSubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.L424fs*>17c.1264_1265insTInsertion - Frameshift
NM_207305.1p.L424fs*59c.1264_1265insTInsertion - Frameshift
TGENSG00000042832ENST00000220616p.S1194Gc.3580A>GSubstitution - Missense
ENSG00000258417ENST00000262283p.I683Ic.2049C>TSubstitution - coding silent
XM_070277.6p.I445Ic.1335C>TSubstitution - coding silent
ATP5IENSG00000169020ENST00000304312p.?c.190+9G>AUnknown
EVC2ENSG00000173040ENST00000344408p.E143fs*20c.423_424delAADeletion - Frameshift
TANC1ENSG00000115183ENST00000263635p.A1375Ac.4125C>TSubstitution - coding silent
ZNF335ENSG00000198026ENST00000322927p.?c.1647-5C>TUnknown
MMP9ENSG00000100985ENST00000372330p.?c.997+10C>TUnknown
WFDC3ENSG00000124116ENST00000243938p.C89Rc.265T>CSubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.D235Vc.704A>TSubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.D235Vc.704A>TSubstitution - Missense
ZNF404ENSG00000176222ENST00000587539p.P5Pc.15A>GSubstitution - coding silent
PSG8ENSG00000124467ENST00000306511p.Q383Hc.1149A>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.R2505Wc.7513C>TSubstitution - Missense
ENST00000251268_v61p.R2572Wc.7714C>TSubstitution - Missense
ENST00000292077p.P433Rc.1298C>GSubstitution - Missense
POU2F2ENSG00000028277ENST00000389341p.P417Rc.1250C>GSubstitution - Missense
CEACAM3ENSG00000170956ENST00000357396p.Q16Rc.47A>GSubstitution - Missense
ENST00000319396p.K585Nc.1755A>CSubstitution - Missense
ILVBLENSG00000105135ENST00000263383p.A415Ac.1245C>TSubstitution - coding silent
DNASE1L2ENSG00000167968ENST00000320700p.K133Nc.399G>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.?c.619-8C>GUnknown
HPENSG00000257017ENST00000228226p.S323Cc.968C>GSubstitution - Missense
HPRENSG00000261701ENST00000540303p.A326Ac.978T>CSubstitution - coding silent
HPENSG00000257017ENST00000228226p.A363Ac.1089T>CSubstitution - coding silent
DHX38ENSG00000140829ENST00000268482p.R247Qc.740G>ASubstitution - Missense
HPRENSG00000261701ENST00000540303p.S286Cc.857C>GSubstitution - Missense
ENST00000316490_v65p.V2434Ic.7300G>ASubstitution - Missense
ACTBENSG00000075624ENST00000331789p.P27Sc.79C>TSubstitution - Missense
ACTBENSG00000075624ENST00000417101p.T3Tc.9C>TSubstitution - coding silent
ACTBENSG00000075624ENST00000417101p.?c.4-7C>GUnknown
KELENSG00000197993ENST00000355265p.A423Vc.1268C>TSubstitution - Missense
NM_002711.2p.V384Ic.1150G>ASubstitution - Missense
NRCAMENSG00000091129ENST00000379028p.P141Lc.422C>TSubstitution - Missense
NRCAMENSG00000091129ENST00000351718p.P135Lc.404C>TSubstitution - Missense
ETV5ENSG00000244405ENST00000537818p.V294Dc.881T>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.F93Ic.277T>ASubstitution - Missense
CAPN10ENSG00000142330ENST00000391982p.P95Lc.284C>TSubstitution - Missense
TRAF3IP1ENSG00000204104ENST00000391994p.G255Ac.764G>CSubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.F794Fc.2382T>CSubstitution - coding silent
GCDHENSG00000105607ENST00000422947p.S261Sc.783G>ASubstitution - coding silent
RGL3ENSG00000205517ENST00000393423p.R599Qc.1796G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.I99Tc.296T>CSubstitution - Missense
CD300LGENSG00000161649ENST00000539718p.E41Kc.121G>ASubstitution - Missense
MYO19ENSG00000141140ENST00000586007p.A68Gc.203C>GSubstitution - Missense
ESR2ENSG00000140009ENST00000357782p.S323Sc.969C>TSubstitution - coding silent
SSX2IPENSG00000117155ENST00000370612p.L281Fc.841C>TSubstitution - Missense
C1orf177ENSG00000162398ENST00000371273p.S228Sc.684C>GSubstitution - coding silent
MPLENSG00000117400ENST00000413998p.H520Pc.1559A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R4694Wc.14080C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.Y4293Hc.12877T>CSubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.S848Sc.2544G>CSubstitution - coding silent
TCTN1ENSG00000204852ENST00000397655p.A375Vc.1124C>TSubstitution - Missense
ENST00000380369p.P22Pc.66C>TSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.L141Ic.421C>ASubstitution - Missense
PIK3AP1ENSG00000155629ENST00000371109p.R279Wc.835C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.K186Ec.556A>GSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.C1125Cc.3375C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.P1848Sc.5542C>TSubstitution - Missense
TMPRSS3ENSG00000160183ENST00000398397p.G94Rc.280G>ASubstitution - Missense
TMPRSS3ENSG00000160183ENST00000380399p.G178Rc.532G>ASubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.R690Qc.2069G>ASubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.V1119Vc.3357G>ASubstitution - coding silent
NM_006622p.S63Sc.189G>CSubstitution - coding silent
PDE4DENSG00000113448ENST00000340635p.E725Kc.2173G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000405755p.E603Kc.1807G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.E589Kc.1765G>ASubstitution - Missense
DHX29ENSG00000067248ENST00000251636p.A914Tc.2740G>ASubstitution - Missense
TRAPPC11ENSG00000168538ENST00000334690p.V895Ac.2684T>CSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.S55Sc.165G>ASubstitution - coding silent
DDX60ENSG00000137628ENST00000393743p.N1639Kc.4917T>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.N1639Kc.4917T>ASubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.T78Kc.233C>ASubstitution - Missense
PPIDENSG00000171497ENST00000307720p.?c.85+6C>GUnknown
TP63ENSG00000073282ENST00000264731p.?c.767-2A>GUnknown
ST6GAL1ENSG00000073849ENST00000169298p.A85Vc.254C>TSubstitution - Missense
ST6GAL1ENSG00000073849ENST00000169298p.I112fs*49c.332_342del11Deletion - Frameshift
EIF4A2ENSG00000156976ENST00000323963p.A63Vc.188C>TSubstitution - Missense
ENST00000405167p.S3733Nc.11198G>ASubstitution - Missense
FOXC2ENSG00000176692ENST00000320354p.A422Gc.1265C>GSubstitution - Missense
GP6ENSG00000088053ENST00000310373p.A83Ac.249T>GSubstitution - coding silent
MROH6ENSG00000204839ENST00000398882p.S582Gc.1744A>GSubstitution - Missense
GMNNENSG00000112312ENST00000356509p.L48fs*11c.142delTDeletion - Frameshift
ASTLENSG00000188886ENST00000342380p.A382Ac.1146T>CSubstitution - coding silent
XM_290867.2p.R357Qc.1070G>ASubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.S878Lc.2633C>TSubstitution - Missense
ERGIC3ENSG00000125991ENST00000357394p.?c.461+7T>CUnknown
TTYH1ENSG00000167614ENST00000376531p.L395Lc.1185G>ASubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.F1178Fc.3534T>CSubstitution - coding silent
COL4A6ENSG00000197565ENST00000334504p.G824Dc.2471G>ASubstitution - Missense
ST18ENSG00000147488ENST00000276480p.N354Nc.1062C>TSubstitution - coding silent
ENST00000436041_v68p.P30Pc.90G>ASubstitution - coding silent
CSRP3ENSG00000129170ENST00000265968p.K152Kc.456G>ASubstitution - coding silent
ENST00000242630p.R90Hc.269G>ASubstitution - Missense
HSPB8ENSG00000152137ENST00000281938p.L158Vc.472C>GSubstitution - Missense
NOS1APENSG00000198929ENST00000493151p.K100Mc.299A>TSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.R696Cc.2086C>TSubstitution - Missense
HPS6ENSG00000166189ENST00000299238p.A727Ac.2181A>GSubstitution - coding silent
RIPK3ENSG00000129465ENST00000216274p.H132Hc.396C>TSubstitution - coding silent
NDUFC2ENSG00000151366ENST00000281031p.R77Hc.230G>ASubstitution - Missense
RECQLENSG00000004700ENST00000444129p.L527Lc.1581G>ASubstitution - coding silent
ENST00000349637p.G4939Gc.14817C>TSubstitution - coding silent
ENST00000224764p.D295Dc.885C>TSubstitution - coding silent
PPARGC1AENSG00000109819ENST00000264867p.D430Yc.1288G>TSubstitution - Missense
SGK1ENSG00000118515ENST00000413996p.N59Kc.177C>GSubstitution - Missense
SGK1ENSG00000118515ENST00000367857p.N35Kc.105C>GSubstitution - Missense
ZNF439ENSG00000171291ENST00000304030p.Q176Pc.527A>CSubstitution - Missense
ERN2ENSG00000134398ENST00000256797p.R319Wc.955C>TSubstitution - Missense
GATA1ENSG00000102145ENST00000376665p.H71Rc.212A>GSubstitution - Missense
MAGEB16ENSG00000189023ENST00000399992p.P334Sc.1000C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.K756Kc.2268G>ASubstitution - coding silent
CACNA1BENSG00000148408ENST00000277549p.G1074Sc.3220G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.G2771Rc.8311G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.A2797Tc.8389G>ASubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.A48Sc.142G>TSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.Q78*c.232C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000448038p.E3696Ec.11088A>GSubstitution - coding silent
PTPRKENSG00000152894ENST00000368227p.P830Lc.2489C>TSubstitution - Missense
GOPCENSG00000047932ENST00000535237p.A164Tc.490G>ASubstitution - Missense
ENST00000368933p.I410Nc.1229T>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.L1354Lc.4062G>TSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000400028p.T360Ic.1079C>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.915_916ins15Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.894_895ins15Insertion - In frame
CAMKK2ENSG00000110931ENST00000392474p.L37fs*7c.109delCDeletion - Frameshift
WWC2ENSG00000151718ENST00000378925p.E310Qc.928G>CSubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.H47Yc.139C>TSubstitution - Missense
AIMP1ENSG00000164022ENST00000394701p.T133Ic.398C>TSubstitution - Missense
LMLNENSG00000185621ENST00000482695p.L352Vc.1054C>GSubstitution - Missense
GPR45ENSG00000135973ENST00000258456p.V175Ec.524T>ASubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.S665Nc.1994G>ASubstitution - Missense
PIM2ENSG00000102096ENST00000376509p.V68Vc.204G>TSubstitution - coding silent
PLATENSG00000104368ENST00000429089p.K282Rc.845A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2192Lc.6575C>TSubstitution - Missense
MYEOV2ENSG00000172428ENST00000307266p.G224Sc.670G>ASubstitution - Missense
LSSENSG00000160285ENST00000397728p.A399Ac.1197G>ASubstitution - coding silent
IFNGR2ENSG00000159128ENST00000290219p.?c.879+4C>TUnknown
DUSP2ENSG00000158050ENST00000288943p.?c.511-2_511delagGUnknown
ENST00000436173p.P1325Rc.3974C>GSubstitution - Missense
RIPK2ENSG00000104312ENST00000220751p.A462Ac.1386C>TSubstitution - coding silent
DPYSL2ENSG00000092964ENST00000311151p.N387Sc.1160A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.R3282Tc.9845G>CSubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.T167Kc.500C>ASubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.?c.2559+7C>AUnknown
ASB2ENSG00000100628ENST00000315988p.Y113Sc.338A>CSubstitution - Missense
SU_QSKp.L1243Lc.3729C>TSubstitution - coding silent
NM_004397.3p.L264Lc.792A>GSubstitution - coding silent
HIST2H2BFENSG00000203814ENST00000369167p.T89Sc.265A>TSubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.R314Wc.940C>TSubstitution - Missense
PRRX1ENSG00000116132ENST00000239461p.R98Mc.293G>TSubstitution - Missense
USPL1ENSG00000132952ENST00000255304p.P829Lc.2486C>TSubstitution - Missense
CNNM1ENSG00000119946ENST00000356713p.V713Mc.2137G>ASubstitution - Missense
PGA5ENSG00000256713ENST00000312403p.V374Ic.1120G>ASubstitution - Missense
PMLENSG00000140464ENST00000268058p.R825Cc.2473C>TSubstitution - Missense
KRT76ENSG00000185069ENST00000332411p.D459Ac.1376A>CSubstitution - Missense
CLDN10ENSG00000134873ENST00000376873p.P63Pc.189G>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.S410Fc.1229C>TSubstitution - Missense
COG2ENSG00000135775ENST00000366669p.S104Sc.312G>ASubstitution - coding silent
MYH10ENSG00000133026ENST00000396239p.?c.5676+7G>AUnknown
TP63ENSG00000073282ENST00000354600p.?c.485-2A>GUnknown
AIFM3ENSG00000183773ENST00000405089p.G446Sc.1336G>ASubstitution - Missense
TMEM254ENSG00000133678ENST00000450179p.F27fs*25c.77_78insGGGCCCCTInsertion - Frameshift
ENSG00000182329ENST00000541917p.S453Sc.1359C>TSubstitution - coding silent
SLC43A1ENSG00000149150ENST00000278426p.P67Rc.200C>GSubstitution - Missense
NM_012197.2p.A851Tc.2551G>ASubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.R253fs*>188c.756_757insGInsertion - Frameshift
MDC1ENSG00000137337ENST00000376406p.R512Kc.1535G>ASubstitution - Missense
HIST1H2AMENSG00000233224ENST00000359611p.A127Vc.380C>TSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.A68Gc.203C>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
NCOA7ENSG00000111912ENST00000368357p.T230Ac.688A>GSubstitution - Missense
CLIP2ENSG00000106665ENST00000223398p.G210Ac.629G>CSubstitution - Missense
SNX4ENSG00000114520ENST00000251775p.S167Sc.501A>GSubstitution - coding silent
AF083811.1p.A204Vc.611C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.L80Lc.240G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.S938Sc.2814T>ASubstitution - coding silent
PCDH10ENSG00000138650ENST00000264360p.A573Vc.1718C>TSubstitution - Missense
SLC9A5ENSG00000135740ENST00000299798p.I135Ic.405C>ASubstitution - coding silent
DLEC1ENSG00000008226ENST00000308059p.T611Tc.1833A>GSubstitution - coding silent
RAB37ENSG00000172794ENST00000392613p.S173Nc.518G>ASubstitution - Missense
ENST00000405167p.T2991Ic.8972C>TSubstitution - Missense
EEF1A2ENSG00000101210ENST00000298049p.G50Gc.150G>TSubstitution - coding silent
DUSP2ENSG00000158050ENST00000288943p.S249Nc.746G>ASubstitution - Missense
INPP5KENSG00000132376ENST00000320345p.K152Nc.456A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E198delEc.593_595delAAGDeletion - In frame
ENST00000356127p.E198delEc.593_595delAAGDeletion - In frame
TTNENSG00000155657ENST00000359218p.A3834Vc.11501C>TSubstitution - Missense
OPRK1ENSG00000082556ENST00000265572p.V256Ic.766G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.W87Sc.260G>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.W87Sc.260G>CSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.L753Pc.2258T>CSubstitution - Missense
ZP4ENSG00000116996ENST00000366570p.A510Sc.1528G>TSubstitution - Missense
CYB561A3ENSG00000162144ENST00000294072p.L179Fc.535C>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.A1314Sc.3940G>TSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.R550Qc.1649G>ASubstitution - Missense
AAASENSG00000094914ENST00000209873p.V438Ac.1313T>CSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.G618Rc.1852G>ASubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.G163Rc.487G>CSubstitution - Missense
SYNCRIPENSG00000135316ENST00000369622p.A323Vc.968C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.S410Fc.1229C>TSubstitution - Missense
CADPSENSG00000163618ENST00000383710p.R839Hc.2516G>ASubstitution - Missense
CNN3ENSG00000117519ENST00000370206p.Y316Hc.946T>CSubstitution - Missense
KIAA0368ENSG00000136813ENST00000338205p.?c.2080-3C>GUnknown
ENST00000377993p.D345Nc.1033G>ASubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.D950Nc.2848G>ASubstitution - Missense
MRPS31ENSG00000102738ENST00000323563p.P222Rc.665C>GSubstitution - Missense
ENST00000341231p.S192Sc.576C>TSubstitution - coding silent
NM_207305.1p.R253fs*230c.756_757insGInsertion - Frameshift
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P800Sc.2398C>TSubstitution - Missense
MDFICENSG00000135272ENST00000257724p.R98Pc.293G>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.E79Kc.235G>ASubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.A706Tc.2116G>ASubstitution - Missense
CCL4L1ENSG00000205020ENST00000444414p.?c.192-2G>AUnknown
GTF3C5ENSG00000148308ENST00000372097p.I351Ic.1053C>TSubstitution - coding silent
MAMDC4ENSG00000177943ENST00000317446p.L15Lc.43C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.Q1539Hc.4617G>CSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.K999delKc.2997_2999delGAADeletion - In frame
USP37ENSG00000135913ENST00000258399p.R420Kc.1259G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.F222Vc.664T>GSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.R1504Qc.4511G>ASubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.G1501Cc.4501G>TSubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.I8fs*17c.22_23insAInsertion - Frameshift
PKD2ENSG00000118762ENST00000237596p.E890Kc.2668G>ASubstitution - Missense
SAMD10ENSG00000130590ENST00000369886p.R184Hc.551G>ASubstitution - Missense
MRS2ENSG00000124532ENST00000378386p.L417Lc.1249C>TSubstitution - coding silent
ENST00000377989p.D345Nc.1033G>ASubstitution - Missense
GCDHENSG00000105607ENST00000457854p.S305Sc.915G>ASubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.A266Sc.796G>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.A1800Tc.5398G>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000443444p.Y21Yc.63C>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000360524p.Y21Yc.63C>TSubstitution - coding silent
PAK3ENSG00000077264ENST00000446737p.?c.1545+4A>GUnknown
RPL4ENSG00000174444ENST00000307961p.G68Dc.203G>ASubstitution - Missense
ZBTB1ENSG00000126804ENST00000394712p.T281Mc.842C>TSubstitution - Missense
GPX2ENSG00000176153ENST00000389614p.A151fs*10c.446_447insTGInsertion - Frameshift
PDXDC1ENSG00000179889ENST00000396410p.V479Ic.1435G>ASubstitution - Missense
IFITM2ENSG00000185201ENST00000399817p.N106Dc.316A>GSubstitution - Missense
PXNENSG00000089159ENST00000397506p.V322Mc.964G>ASubstitution - Missense
EGR2ENSG00000122877ENST00000242480p.V7Vc.21A>CSubstitution - coding silent
GABRA5ENSG00000186297ENST00000335625p.K365Kc.1095G>ASubstitution - coding silent
AGAP2ENSG00000135439ENST00000257897p.T751Ac.2251A>GSubstitution - Missense
KCNJ1ENSG00000151704ENST00000392664p.N171Yc.511A>TSubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.E273Gc.818A>GSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.N2451Sc.7352A>GSubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.?c.1331+1G>AUnknown
PAN2ENSG00000135473ENST00000440411p.Q1037Ec.3109C>GSubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.A433Vc.1298C>TSubstitution - Missense
ENST00000359598p.A361Vc.1082C>TSubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.C786Fc.2357G>TSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.K529Qc.1585A>CSubstitution - Missense
AIFM3ENSG00000183773ENST00000335375p.G428Sc.1282G>ASubstitution - Missense
PROCA1ENSG00000167525ENST00000439862p.S301Lc.902C>TSubstitution - Missense
CEP89ENSG00000121289ENST00000590597p.P160Sc.478C>TSubstitution - Missense
ESR2ENSG00000140009ENST00000557772p.S323Sc.969C>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000441606p.L735Pc.2204T>CSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.K679Kc.2037G>ASubstitution - coding silent
RAP1GAPENSG00000076864ENST00000542643p.G613Rc.1837G>ASubstitution - Missense
EFR3AENSG00000132294ENST00000254624p.Y683Yc.2049T>CSubstitution - coding silent
TRIM32ENSG00000119401ENST00000450136p.P137Sc.409C>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.F648Lc.1944T>GSubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.P809Sc.2425C>TSubstitution - Missense
ACTBENSG00000075624ENST00000331789p.L104fs*2c.310delCDeletion - Frameshift
FAM13BENSG00000031003ENST00000033079p.G53Gc.159A>TSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.G24Gc.72C>ASubstitution - coding silent
ENPP3ENSG00000154269ENST00000357639p.L140Lc.420G>TSubstitution - coding silent
ENST00000296885p.R254Gc.760A>GSubstitution - Missense
RFFLENSG00000092871ENST00000394597p.R284Wc.850C>TSubstitution - Missense
ACTRT3ENSG00000184378ENST00000330368p.L74Fc.220C>TSubstitution - Missense
CD300LGENSG00000161649ENST00000293396p.E41Kc.121G>ASubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.?c.2298+5G>CUnknown
DSTENSG00000151914ENST00000370765p.K868Kc.2604A>GSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.T5437Tc.16311A>CSubstitution - coding silent
PPAN-P2RY11ENSG00000243207ENST00000393796p.I183Ic.549C>TSubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.V436Ic.1306G>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.H808Yc.2422C>TSubstitution - Missense
ENST00000249399p.V29Ic.85G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.A269Tc.805G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.L1234Lc.3702G>TSubstitution - coding silent
G3BP1ENSG00000145907ENST00000394123p.Q291fs*28c.868_875delTCTCAGATDeletion - Frameshift
SGK1ENSG00000118515ENST00000528577p.?c.747-3C>TUnknown
ACSL6ENSG00000164398ENST00000296869p.Q180Ec.538C>GSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.G1880Sc.5638G>ASubstitution - Missense
ENST00000539430p.L632Pc.1895T>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.T159Tc.477G>ASubstitution - coding silent
PP2D1ENSG00000183977ENST00000389050p.S344fs*21c.1030_1031delAGDeletion - Frameshift
AOX1ENSG00000138356ENST00000374700p.?c.588+1G>AUnknown
ALS2ENSG00000003393ENST00000264276p.P384Lc.1151C>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.S701Sc.2103C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.A2789Tc.8365G>ASubstitution - Missense
DNAH12ENSG00000174844ENST00000351747p.Y1410Cc.4229A>GSubstitution - Missense
KIAA1755ENSG00000149633ENST00000279024p.G993Rc.2977G>ASubstitution - Missense
BTKENSG00000010671ENST00000308731p.I132Nc.395T>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.E198delEc.593_595delAAGDeletion - In frame
SLC24A3ENSG00000185052ENST00000328041p.A79Sc.235G>TSubstitution - Missense
GAS6ENSG00000183087ENST00000327773p.?c.1454_1477+1457del1481Unknown
NM_020529.1p.Q154*c.460C>TSubstitution - Nonsense
PTGS2ENSG00000073756ENST00000367468p.N389Dc.1165A>GSubstitution - Missense
TRIM29ENSG00000137699ENST00000341846p.G479Sc.1435G>ASubstitution - Missense
MMP13ENSG00000137745ENST00000260302p.D406Dc.1218T>CSubstitution - coding silent
WDR66ENSG00000158023ENST00000288912p.E732Ec.2196G>ASubstitution - coding silent
KCNK7ENSG00000173338ENST00000340313p.F121Lc.363C>GSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.E824Qc.2470G>CSubstitution - Missense
LNX2ENSG00000139517ENST00000316334p.L381Ic.1141C>ASubstitution - Missense
WEE1ENSG00000166483ENST00000450114p.V347Vc.1041A>GSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000368194p.P1541Lc.4622C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.T868Tc.2604G>ASubstitution - coding silent
ENST00000378129p.R619Hc.1856G>ASubstitution - Missense
CHAMP1ENSG00000198824ENST00000361283p.E495Kc.1483G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.Q589Hc.1767G>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.862_863ins15Insertion - In frame
RTL1ENSG00000254656ENST00000534062p.E683Kc.2047G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.S2304Rc.6912C>ASubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.V252Dc.755T>ASubstitution - Missense
FAM193BENSG00000146067ENST00000443375p.R606Tc.1817G>CSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.L1355Lc.4065G>TSubstitution - coding silent
ZNF608ENSG00000168916ENST00000306315p.S158Nc.473G>ASubstitution - Missense
TXNDC2ENSG00000168454ENST00000357775p.Q316Kc.946C>ASubstitution - Missense
LCTENSG00000115850ENST00000264162p.V1521Ac.4562T>CSubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.I712Tc.2135T>CSubstitution - Missense
ITM2CENSG00000135916ENST00000326427p.R238Wc.712C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.Q1652Hc.4956G>CSubstitution - Missense
ENST00000381114p.S2773Sc.8319G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.E3711Ec.11133A>GSubstitution - coding silent
ICT1ENSG00000167862ENST00000301585p.T4Sc.10A>TSubstitution - Missense
ENST00000368577p.R119Kc.356G>ASubstitution - Missense
FAM73BENSG00000148343ENST00000358369p.R214Qc.641G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000507116p.E661Kc.1981G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.R545Qc.1634G>ASubstitution - Missense
HYDINENSG00000157423ENST00000538248p.H835Yc.2503C>TSubstitution - Missense
ARL5AENSG00000162980ENST00000295087p.?c.46+9C>GUnknown
CCDC116ENSG00000161180ENST00000292779p.H426Dc.1276C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S142Nc.425G>ASubstitution - Missense
TMEM200AENSG00000164484ENST00000296978p.G53Gc.159C>TSubstitution - coding silent
WDR62ENSG00000075702ENST00000270301p.G966Rc.2896G>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.Q788Rc.2363A>GSubstitution - Missense
CEP85LENSG00000111860ENST00000368488p.R796Cc.2386C>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.L141_Q142insLLc.415_416insTGCTGCInsertion - In frame
KLC3ENSG00000104892ENST00000391946p.S433fs*4c.1294_1295delCTDeletion - Frameshift
CCDC14ENSG00000175455ENST00000433542p.I671Tc.2012T>CSubstitution - Missense
NCLENSG00000115053ENST00000322723p.G695Ec.2084G>ASubstitution - Missense
SLC16A14ENSG00000163053ENST00000295190p.G244Gc.732A>GSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.D1056Nc.3166G>ASubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.S79Nc.236G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3734Ac.11200C>GSubstitution - Missense
EWSR1ENSG00000182944ENST00000414183p.Q158fs*9c.466_491del26Deletion - Frameshift
ZNF841ENSG00000197608ENST00000389534p.Q504*c.1510C>TSubstitution - Nonsense
ENST00000354939p.V244Vc.732A>TSubstitution - coding silent
AGXTENSG00000172482ENST00000307503p.R233Cc.697C>TSubstitution - Missense
SP3ENSG00000172845ENST00000310015p.K634Kc.1902G>ASubstitution - coding silent
PSMG2ENSG00000128789ENST00000317615p.T16Tc.48C>TSubstitution - coding silent
CSN2ENSG00000135222ENST00000353151p.K2Ec.4A>GSubstitution - Missense
PROCA1ENSG00000167525ENST00000301039p.S299Lc.896C>TSubstitution - Missense
ENST00000428290_v65p.F1050Fc.3150T>CSubstitution - coding silent
TSKSENSG00000126467ENST00000246801p.T130Mc.389C>TSubstitution - Missense
ENST00000278816p.?c.683-3T>CUnknown
SCUBE2ENSG00000175356ENST00000457346p.G839Rc.2515G>ASubstitution - Missense
ENST00000396725_v65p.R465Qc.1394G>ASubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.N389Dc.1165A>GSubstitution - Missense
AASDHPPTENSG00000149313ENST00000278618p.Y102Cc.305A>GSubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.E176Ac.527A>CSubstitution - Missense
XCL2ENSG00000143185ENST00000367819p.T37Tc.111C>GSubstitution - coding silent
AIFM2ENSG00000042286ENST00000307864p.T163Ac.487A>GSubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.K395Mc.1184A>TSubstitution - Missense
SLC46A3ENSG00000139508ENST00000380814p.R355Sc.1065G>CSubstitution - Missense
OR52K2ENSG00000181963ENST00000325719p.F122Vc.364T>GSubstitution - Missense
ECE1ENSG00000117298ENST00000357071p.E261Gc.782A>GSubstitution - Missense
ENST00000377560_v62p.G2964Vc.8891G>TSubstitution - Missense
DUPD1ENSG00000188716ENST00000338487p.P36Sc.106C>TSubstitution - Missense
ENST00000305759p.G163Rc.487G>CSubstitution - Missense
RELNENSG00000189056ENST00000343529p.R1622*c.4864C>TSubstitution - Nonsense
HCN1ENSG00000164588ENST00000303230p.V566Mc.1696G>ASubstitution - Missense
ENST00000303890p.R799Cc.2395C>TSubstitution - Missense
CRHBPENSG00000145708ENST00000274368p.P303Qc.908C>ASubstitution - Missense
TNFAIP3ENSG00000118503ENST00000237289p.?c.295+1G>AUnknown
CRB1ENSG00000134376ENST00000535699p.F178Fc.534C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000503258p.E595Kc.1783G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.S478Fc.1433C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000317118p.E434Kc.1300G>ASubstitution - Missense
EVC2ENSG00000173040ENST00000344938p.E143fs*20c.423_424delAADeletion - Frameshift
TMEM254ENSG00000133678ENST00000450179p.L21fs*31c.60_61insTGGGCCCCInsertion - Frameshift
CHD5ENSG00000116254ENST00000378021p.A454Ac.1362C>TSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000315174p.P917Lc.2750C>TSubstitution - Missense
RTN4RL2ENSG00000186907ENST00000335099p.T43Tc.129C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000397617p.A980Ac.2940G>ASubstitution - coding silent
CCDC102BENSG00000150636ENST00000358653p.A292Vc.875C>TSubstitution - Missense
NM_001702.1p.N444Sc.1331A>GSubstitution - Missense
NSMCE2ENSG00000156831ENST00000287437p.L103Lc.309G>ASubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.?c.619-8C>GUnknown
ENST00000316490_v65p.H808Yc.2422C>TSubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.?c.1400-7C>TUnknown
ENST00000248668_v71p.R265Pc.794G>CSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.R217Pc.650G>CSubstitution - Missense
EIF3EENSG00000104408ENST00000220849p.Q282Rc.845A>GSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.Q748Rc.2243A>GSubstitution - Missense
SCPEP1ENSG00000121064ENST00000262288p.R186*c.556C>TSubstitution - Nonsense
EZRENSG00000092820ENST00000367075p.V50Vc.150G>ASubstitution - coding silent
RP2ENSG00000102218ENST00000218340p.P290fs*2c.861_864delCTTCDeletion - Frameshift
IRAK2ENSG00000134070ENST00000256458p.L605Qc.1814T>ASubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.K455Nc.1365A>CSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.G94Gc.282C>TSubstitution - coding silent
ATP10DENSG00000145246ENST00000273859p.V194Vc.582A>GSubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000291532p.G94Rc.280G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
C18orf8ENSG00000141452ENST00000269221p.R583Rc.1749G>CSubstitution - coding silent
PITPNC1ENSG00000154217ENST00000580974p.?c.618+6T>GUnknown
KIF13BENSG00000197892ENST00000524189p.A266Sc.796G>TSubstitution - Missense
NM_152423.2p.D12Yc.34G>TSubstitution - Missense
ZNF804AENSG00000170396ENST00000302277p.N931Nc.2793T>CSubstitution - coding silent
CPS1ENSG00000021826ENST00000430249p.A1342Vc.4025C>TSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.A1336Vc.4007C>TSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.?c.1570+2T>CUnknown
NM_020529.1p.P60fs*30c.179delCDeletion - Frameshift
ENST00000313929p.P157Sc.469C>TSubstitution - Missense
ENSG00000239810ENST00000436041p.P30Pc.90G>ASubstitution - coding silent
ZNF710ENSG00000140548ENST00000268154p.S443Sc.1329C>TSubstitution - coding silent
SAMD15ENSG00000100583ENST00000216471p.E242Qc.724G>CSubstitution - Missense
C1orf226ENSG00000239887ENST00000426197p.G121Sc.361G>ASubstitution - Missense
ENST00000342887p.E699Ec.2097A>GSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.F566Fc.1698C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.K185Ec.553A>GSubstitution - Missense
SGK1ENSG00000118515ENST00000237305p.N45Kc.135C>GSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.E280delEc.826_828delGAGDeletion - In frame
TDRD6ENSG00000180113ENST00000316081p.D1288Yc.3862G>TSubstitution - Missense
ACTBENSG00000075624ENST00000417101p.P30Sc.88C>TSubstitution - Missense
ZNF112ENSG00000062370ENST00000536500p.D252Vc.755A>TSubstitution - Missense
ENST00000357944p.I92fs*26c.273delTDeletion - Frameshift
PITPNC1ENSG00000154217ENST00000335257p.?c.618+6T>GUnknown
ERGIC3ENSG00000125991ENST00000447986p.?c.461+7T>CUnknown
ARHGAP21ENSG00000107863ENST00000376410p.P731Sc.2191C>TSubstitution - Missense
CPN2ENSG00000178772ENST00000323830p.L430Lc.1290C>TSubstitution - coding silent
SERPINB1ENSG00000021355ENST00000380739p.S31Sc.93T>GSubstitution - coding silent
ENST00000309900p.V65Ic.193G>ASubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.F514Fc.1542T>CSubstitution - coding silent
TMEM200AENSG00000164484ENST00000392429p.G53Gc.159C>TSubstitution - coding silent
UBE2J1ENSG00000198833ENST00000435041p.?c.31+10G>AUnknown
FFAR1ENSG00000126266ENST00000246553p.W124*c.371G>ASubstitution - Nonsense
VAV2ENSG00000160293ENST00000371850p.S350Fc.1049C>TSubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.T419Tc.1257C>TSubstitution - coding silent
FLYWCH2ENSG00000162076ENST00000396958p.?c.322+6G>TUnknown
COL6A3ENSG00000163359ENST00000295550p.S1144Sc.3432T>ASubstitution - coding silent
SYNPO2ENSG00000172403ENST00000307142p.D1144Nc.3430G>ASubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.I50fs*17c.148_149insAInsertion - Frameshift
TEX15ENSG00000133863ENST00000256246p.I529_E533delILSSEc.1585_1599del15Deletion - In frame
LMLNENSG00000185621ENST00000330198p.L404Vc.1210C>GSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.?c.1027+4A>GUnknown
GNRH2ENSG00000125787ENST00000380347p.S109Fc.326C>TSubstitution - Missense
USP43ENSG00000154914ENST00000285199p.?c.969+8A>GUnknown
GPLD1ENSG00000112293ENST00000230036p.S226Cc.677C>GSubstitution - Missense
KRT36ENSG00000126337ENST00000328119p.R366Cc.1096C>TSubstitution - Missense
HIST1H3GENSG00000256018ENST00000305910p.E98Kc.292G>ASubstitution - Missense
MED1ENSG00000125686ENST00000300651p.M253Vc.757A>GSubstitution - Missense
SH3BGRENSG00000185437ENST00000333634p.K197Ec.589A>GSubstitution - Missense
NPR2ENSG00000159899ENST00000342694p.M880Ic.2640G>TSubstitution - Missense
PRAM1ENSG00000133246ENST00000423345p.F281Lc.841T>CSubstitution - Missense
MLLT1ENSG00000130382ENST00000252674p.H201Lc.602A>TSubstitution - Missense
SU_LRRK1p.T1575Tc.4725G>ASubstitution - coding silent
PAPOLAENSG00000090060ENST00000216277p.H487Yc.1459C>TSubstitution - Missense
ENSG00000197502ENST00000358799p.T12Ac.34A>GSubstitution - Missense
PDPNENSG00000162493ENST00000294489p.V20Dc.59T>ASubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.P175Sc.523C>TSubstitution - Missense
STOX1ENSG00000165730ENST00000399169p.P838Sc.2512C>TSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.A679Tc.2035G>ASubstitution - Missense
PKD2L1ENSG00000107593ENST00000318222p.D729Yc.2185G>TSubstitution - Missense
ENST00000342078p.T78Tc.234C>TSubstitution - coding silent
OMPENSG00000254550ENST00000529803p.V158Mc.472G>ASubstitution - Missense
KIF7ENSG00000166813ENST00000394412p.S1322Pc.3964T>CSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.T762Ic.2285C>TSubstitution - Missense
ENST00000368915p.G276Gc.828C>GSubstitution - coding silent
NM_172217.1p.H576Hc.1728C>TSubstitution - coding silent
AGAP2ENSG00000135439ENST00000547588p.T1107Ac.3319A>GSubstitution - Missense
ENST00000224764p.D295Dc.885C>TSubstitution - coding silent
ETNPPLENSG00000164089ENST00000296486p.H63Nc.187C>ASubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.K621fs*7c.1861_1862delAADeletion - Frameshift
WDR87ENSG00000171804ENST00000303868p.R1588*c.4762C>TSubstitution - Nonsense
NM_001831.2p.R179Hc.536G>ASubstitution - Missense
ADAM20ENSG00000134007ENST00000256389p.V287Ic.859G>ASubstitution - Missense
ENST00000359598p.A124Gc.371C>GSubstitution - Missense
RABGAP1ENSG00000011454ENST00000373647p.A923Tc.2767G>ASubstitution - Missense
TP63ENSG00000073282ENST00000418709p.?c.767-2A>GUnknown
ENST00000398118p.R318Tc.953G>CSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.T846Sc.2537C>GSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.P430Rc.1289C>GSubstitution - Missense
PSG8ENSG00000124467ENST00000404209p.Q383Hc.1149A>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.1012+5G>AUnknown
KMT2CENSG00000055609ENST00000262189p.?c.1012+5G>AUnknown
CEACAM5ENSG00000105388ENST00000221992p.L587Lc.1761G>CSubstitution - coding silent
ZFP36ENSG00000128016ENST00000248673p.A241Tc.721G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.A269Tc.805G>ASubstitution - Missense
ACTBENSG00000075624ENST00000331789p.G197fs*86c.588_591delCGGCDeletion - Frameshift
GJB7ENSG00000164411ENST00000525899p.L159Lc.477G>ASubstitution - coding silent
SGK1ENSG00000118515ENST00000367857p.?c.633-3C>TUnknown
DSPENSG00000096696ENST00000379802p.K1581Ec.4741A>GSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.?c.446+10T>CUnknown
CD300LGENSG00000161649ENST00000317310p.E41Kc.121G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000448662p.K560delKc.1680_1682delGAADeletion - In frame
DSTENSG00000151914ENST00000244364p.K868Kc.2604A>GSubstitution - coding silent
PPANENSG00000130810ENST00000253107p.I183Ic.549C>TSubstitution - coding silent
DSELENSG00000171451ENST00000310045p.P117Pc.351A>TSubstitution - coding silent
ENST00000394167p.G75Ac.224G>CSubstitution - Missense
EML6ENSG00000214595ENST00000356458p.V1338Ic.4012G>ASubstitution - Missense
ATP2C1ENSG00000017260ENST00000393221p.V257Fc.769G>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.P1265Ac.3793C>GSubstitution - Missense
GMPPAENSG00000144591ENST00000341142p.S402Sc.1206G>ASubstitution - coding silent
ENST00000381114p.G2414Vc.7241G>TSubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.S166Nc.497G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.R426Sc.1276C>ASubstitution - Missense
ENST00000424015p.G129Ec.386G>ASubstitution - Missense
SMARCE1ENSG00000073584ENST00000348513p.?c.541+6A>CUnknown
ZNF726ENSG00000213967ENST00000322487p.P79Hc.236C>ASubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.K228Nc.684A>TSubstitution - Missense
ENST00000448396p.L272Lc.816C>ASubstitution - coding silent
ESR2ENSG00000140009ENST00000341099p.S323Sc.969C>TSubstitution - coding silent
KCNK10ENSG00000100433ENST00000340700p.I318Ic.954C>TSubstitution - coding silent
DMRTB1ENSG00000143006ENST00000371445p.H17Rc.50A>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.P852Sc.2554C>TSubstitution - Missense
C2CD5ENSG00000111731ENST00000544930p.?c.1891+5A>GUnknown
KPRPENSG00000203786ENST00000368773p.F208Vc.622T>GSubstitution - Missense
DCDC1ENSG00000170959ENST00000452803p.I349Sc.1046T>GSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.N1626Nc.4878C>TSubstitution - coding silent
ENSG00000205148ENST00000378936p.H43Lc.128A>TSubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.P34Hc.101C>ASubstitution - Missense
RHBDL2ENSG00000158315ENST00000289248p.S125Sc.375A>CSubstitution - coding silent
PGA5ENSG00000256713ENST00000312403p.V374Ic.1120G>ASubstitution - Missense
C15orf27ENSG00000169758ENST00000388942p.S342Sc.1026C>TSubstitution - coding silent
EXTL2ENSG00000162694ENST00000370113p.I213Tc.638T>CSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.P102Pc.306C>TSubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.R1653Lc.4958G>TSubstitution - Missense
SGK1ENSG00000118515ENST00000528577p.N73Kc.219C>GSubstitution - Missense
DSPENSG00000096696ENST00000379802p.E1035Kc.3103G>ASubstitution - Missense
ACTBENSG00000075624ENST00000331789p.S60Rc.180C>GSubstitution - Missense
ENST00000346816p.A858Ac.2574G>ASubstitution - coding silent
CPB1ENSG00000153002ENST00000282957p.R42Hc.125G>ASubstitution - Missense
TECRLENSG00000205678ENST00000381210p.G105Ac.314G>CSubstitution - Missense
AIFM3ENSG00000183773ENST00000399167p.G440Sc.1318G>ASubstitution - Missense
ENST00000301171p.D239Nc.715G>ASubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.G144Dc.431G>ASubstitution - Missense
ENST00000539307p.?c.730+1G>AUnknown
HLA-CENSG00000204525ENST00000383329p.?c.619+1G>AUnknown
TNS3ENSG00000136205ENST00000311160p.V529Ic.1585G>ASubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.V66Mc.196G>ASubstitution - Missense
GRNENSG00000030582ENST00000053867p.G145Sc.433G>ASubstitution - Missense
RAMP2ENSG00000131477ENST00000253796p.?c.163+3G>CUnknown
CYP4V2ENSG00000145476ENST00000378802p.E178Gc.533A>GSubstitution - Missense
TIGD4ENSG00000169989ENST00000304337p.T465Tc.1395T>CSubstitution - coding silent
FKBP15ENSG00000119321ENST00000238256p.?c.2223+5G>CUnknown
CBY1ENSG00000100211ENST00000216029p.?c.78+9C>TUnknown
NONOENSG00000147140ENST00000276079p.G399fs*34c.1192_1193delAGDeletion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.E3711Ec.11133A>GSubstitution - coding silent
SEMA3EENSG00000170381ENST00000307792p.G74Gc.222C>TSubstitution - coding silent
IL20RAENSG00000016402ENST00000316649p.P443Pc.1329G>ASubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.S607Cc.1820C>GSubstitution - Missense
TRNT1ENSG00000072756ENST00000251607p.P270_A271insKLc.809_810insTAAACTInsertion - In frame
CMBLENSG00000164237ENST00000296658p.G134Ac.401G>CSubstitution - Missense
PRKAR1AENSG00000108946ENST00000358598p.T182Tc.546G>ASubstitution - coding silent
ENST00000354247p.?c.1361-10C>GUnknown
ZNF534ENSG00000198633ENST00000332323p.H585Rc.1754A>GSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S1123Pc.3367T>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.Y689Yc.2067C>TSubstitution - coding silent
USP25ENSG00000155313ENST00000400183p.T1076Tc.3228A>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.N2249Sc.6746A>GSubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.V279Ic.835G>ASubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.A23Dc.68C>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.A1080Ac.3240C>TSubstitution - coding silent
PIK3CDENSG00000171608ENST00000377346p.?c.1020+9C>GUnknown
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
LEPREL2ENSG00000110811ENST00000396725p.R281Qc.842G>ASubstitution - Missense
MRTO4ENSG00000053372ENST00000330263p.?c.191+10C>AUnknown
AMPD1ENSG00000116748ENST00000520113p.I524Ic.1572C>TSubstitution - coding silent
THRAP3ENSG00000054118ENST00000354618p.D937delDc.2806_2808delGACDeletion - In frame
SLC19A2ENSG00000117479ENST00000236137p.Y393Cc.1178A>GSubstitution - Missense
TMEM254ENSG00000133678ENST00000372273p.F70fs*25c.190_191insTGGGCCCCInsertion - Frameshift
PALMDENSG00000099260ENST00000263174p.V124Mc.370G>ASubstitution - Missense
CD1AENSG00000158477ENST00000289429p.R200Wc.598C>TSubstitution - Missense
SYNDIG1ENSG00000101463ENST00000376862p.P59Tc.175C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.D211Nc.631G>ASubstitution - Missense
SRRM1ENSG00000133226ENST00000447431p.R601_Y616>Hc.1802_1846del45Complex - deletion inframe
PIK3CDENSG00000171608ENST00000536656p.?c.915+9C>GUnknown
CCDC144AENSG00000170160ENST00000456009p.Y21Yc.63C>TSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000259335p.?c.2614-3C>GUnknown
AARDENSG00000205002ENST00000378279p.A88_R89insAc.264_265insGCGInsertion - In frame
SOGA2ENSG00000168502ENST00000306285p.H968Hc.2904T>CSubstitution - coding silent
GIGYF1ENSG00000146830ENST00000275732p.L913Pc.2738T>CSubstitution - Missense
MTIF2ENSG00000085760ENST00000394600p.V256Vc.768A>TSubstitution - coding silent
FNDC1ENSG00000164694ENST00000297267p.P1226Ac.3676C>GSubstitution - Missense
SLC9A9ENSG00000181804ENST00000316549p.H190Hc.570T>CSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000439140p.S1141Sc.3423A>GSubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.?c.7818+8C>TUnknown
GSDMDENSG00000104518ENST00000262580p.L147Lc.439C>TSubstitution - coding silent
SLC5A3ENSG00000198743ENST00000381151p.R653Qc.1958G>ASubstitution - Missense
KRTAP13-4ENSG00000186971ENST00000334068p.Y147Yc.441C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.I3033Ic.9099C>TSubstitution - coding silent
USP26ENSG00000134588ENST00000370832p.S736Pc.2206T>CSubstitution - Missense
PPP1R42ENSG00000178125ENST00000324682p.I150Vc.448A>GSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.K947Ic.2840A>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.?c.122-4C>TUnknown
CHD5ENSG00000116254ENST00000262450p.A1597Ac.4791C>TSubstitution - coding silent
C1orf180ENSG00000180869ENST00000370624p.P17Pc.51C>TSubstitution - coding silent
RANBP3LENSG00000164188ENST00000296604p.S257Pc.769T>CSubstitution - Missense
CDKL1ENSG00000100490ENST00000395834p.E13Gc.38A>GSubstitution - Missense
CDKL1ENSG00000100490ENST00000395834p.E13Gc.38A>GSubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.V290Vc.870G>ASubstitution - coding silent
MRGPRX2ENSG00000183695ENST00000329773p.T219Ic.656C>TSubstitution - Missense
APBA2ENSG00000034053ENST00000561069p.L36Lc.106C>TSubstitution - coding silent
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.?c.2133-6T>AUnknown
WASF3ENSG00000132970ENST00000335327p.P349Pc.1047T>GSubstitution - coding silent
CNNM1ENSG00000119946ENST00000370534p.V348Mc.1042G>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.T169Tc.507C>TSubstitution - coding silent
RAP1GAPENSG00000076864ENST00000374765p.G587Rc.1759G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.A1387Ac.4161G>ASubstitution - coding silent
HLA-AENSG00000206503ENST00000396634p.Q78*c.232C>TSubstitution - Nonsense
PAQR3ENSG00000163291ENST00000380645p.D90Ec.270C>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.A2811Tc.8431G>ASubstitution - Missense
ARSEENSG00000157399ENST00000540563p.V67Ic.199G>ASubstitution - Missense
TTYH1ENSG00000167614ENST00000391739p.A426Tc.1276G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000264205p.E270Gc.809A>GSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.A48Vc.143C>TSubstitution - Missense
LRIG3ENSG00000139263ENST00000379141p.L194Ic.580C>ASubstitution - Missense
CCDC102BENSG00000150636ENST00000584156p.R278Cc.832C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000502484p.E664Kc.1990G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.E589Kc.1765G>ASubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.T846Sc.2537C>GSubstitution - Missense
KLF2ENSG00000127528ENST00000248071p.K325Kc.975G>ASubstitution - coding silent
ENST00000319396p.K585Nc.1755A>CSubstitution - Missense
ARHGAP21ENSG00000107863ENST00000376410p.T52Mc.155C>TSubstitution - Missense
NM_012197.2p.P484Pc.1452G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000447510p.H47Yc.139C>TSubstitution - Missense
NM_133170.2p.C1137Cc.3411C>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.T1652Kc.4955C>ASubstitution - Missense
CDR1ENSG00000184258ENST00000370532p.S209Sc.627C>ASubstitution - coding silent
CAPN12ENSG00000182472ENST00000328867p.A242Ac.726C>TSubstitution - coding silent
NME8ENSG00000086288ENST00000199447p.L346Qc.1037T>ASubstitution - Missense
MECOMENSG00000085276ENST00000264674p.S374Sc.1122C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.F93Ic.277T>ASubstitution - Missense
LEPREL4ENSG00000141696ENST00000355468p.P421Lc.1262C>TSubstitution - Missense
GTF2H2CENSG00000183474ENST00000380729p.?c.365-10T>CUnknown
ENST00000381114p.S2773Sc.8319G>TSubstitution - coding silent
MPP6ENSG00000105926ENST00000396475p.I248Nc.743T>ASubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.R248Cc.742C>TSubstitution - Missense
ZNF805ENSG00000204524ENST00000414468p.K229Kc.687G>ASubstitution - coding silent
ENST00000405167p.S3733Gc.11197A>GSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.A69Dc.206C>ASubstitution - Missense
GNRH2ENSG00000125787ENST00000380347p.S110Tc.328T>ASubstitution - Missense
ENST00000399313p.K455Nc.1365A>CSubstitution - Missense
NSUN7ENSG00000179299ENST00000381782p.I59Vc.175A>GSubstitution - Missense
PPP1R42ENSG00000178125ENST00000522909p.I150Vc.448A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A3901Vc.11702C>TSubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.E169Kc.505G>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.915_916ins15Insertion - In frame
ZNF609ENSG00000180357ENST00000326648p.P1044Lc.3131C>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.T1563Tc.4689G>ASubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.L2058Lc.6172T>CSubstitution - coding silent
CHI3L1ENSG00000133048ENST00000255409p.?c.895-1G>TUnknown
EP400ENSG00000183495ENST00000389561p.P1812Sc.5434C>TSubstitution - Missense
FAM149B1ENSG00000138286ENST00000242505p.?c.1127+10T>GUnknown
HECTD4ENSG00000173064ENST00000377560p.G2714Vc.8141G>TSubstitution - Missense
PNLIPRP3ENSG00000203837ENST00000369230p.K431Tc.1292A>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.A46Vc.137C>TSubstitution - Missense
TACC1ENSG00000147526ENST00000379931p.E541Kc.1621G>ASubstitution - Missense
GTF3C5ENSG00000148308ENST00000372095p.I226Ic.678C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.K2041Mc.6122A>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.V384Ic.1150G>ASubstitution - Missense
C5orf34ENSG00000172244ENST00000306862p.Q557Rc.1670A>GSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.R545Qc.1634G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.R2113Wc.6337C>TSubstitution - Missense
ZNF230ENSG00000159882ENST00000429154p.S196fs*1c.583_584delCTDeletion - Frameshift
PCDHB12ENSG00000120328ENST00000239450p.A677Sc.2029G>TSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.N510Kc.1530C>ASubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.Q1518Hc.4554G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.F93Ic.277T>ASubstitution - Missense
MRS2ENSG00000124532ENST00000443868p.L420Lc.1258C>TSubstitution - coding silent
DMXL1ENSG00000172869ENST00000539542p.M1231Tc.3692T>CSubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.Q155Ec.463C>GSubstitution - Missense
WWC2ENSG00000151718ENST00000448232p.E408Qc.1222G>CSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.R146Qc.437G>ASubstitution - Missense
OR6Q1ENSG00000172381ENST00000302622p.R233Hc.698G>ASubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.H442Hc.1326C>TSubstitution - coding silent
ENST00000316490p.H808Yc.2422C>TSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.T2179Tc.6537G>ASubstitution - coding silent
SNX13ENSG00000071189ENST00000428135p.T196Tc.588C>GSubstitution - coding silent
TRPV5ENSG00000127412ENST00000265310p.S194Sc.582C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ZNF585BENSG00000245680ENST00000532828p.?c.200-6G>CUnknown
PCDHGA8ENSG00000253767ENST00000398604p.V324Vc.972G>CSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.G4191Gc.12573G>ASubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.P1517Pc.4551C>TSubstitution - coding silent
RAD23BENSG00000119318ENST00000358015p.S318Gc.952A>GSubstitution - Missense
IKBKAPENSG00000070061ENST00000374647p.A1258Gc.3773C>GSubstitution - Missense
CDC40ENSG00000168438ENST00000368932p.I410Nc.1229T>ASubstitution - Missense
TXNDC2ENSG00000168454ENST00000306084p.Q383Kc.1147C>ASubstitution - Missense
FCHO2ENSG00000157107ENST00000430046p.K691Kc.2073A>GSubstitution - coding silent
GLO1ENSG00000124767ENST00000373365p.P122fs*29c.365delCDeletion - Frameshift
ETAA1ENSG00000143971ENST00000272342p.A284Gc.851C>GSubstitution - Missense
LRRFIP1ENSG00000124831ENST00000308482p.S388Rc.1164T>GSubstitution - Missense
DBF4ENSG00000006634ENST00000265728p.N654Nc.1962T>CSubstitution - coding silent
PLCH1ENSG00000114805ENST00000447496p.?c.736-9T>AUnknown
TMEM175ENSG00000127419ENST00000264771p.A358Ac.1074C>GSubstitution - coding silent
ENST00000405167p.D3669Nc.11005G>ASubstitution - Missense
TRAF3IP1ENSG00000204104ENST00000373327p.G255Ac.764G>CSubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.E732Kc.2194G>ASubstitution - Missense
XM_496642.1p.F281Fc.843C>TSubstitution - coding silent
ENST00000332012p.S191Sc.573C>TSubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.C615Sc.1843T>ASubstitution - Missense
KPNB1ENSG00000108424ENST00000290158p.C471Cc.1413C>TSubstitution - coding silent
PHF13ENSG00000116273ENST00000377648p.R202Qc.605G>ASubstitution - Missense
TRIM58ENSG00000162722ENST00000366481p.Q180Qc.540G>ASubstitution - coding silent
GLTPD1ENSG00000224051ENST00000343938p.P166Pc.498C>TSubstitution - coding silent
TP53BP1ENSG00000067369ENST00000263801p.M716Vc.2146A>GSubstitution - Missense
C10orf107ENSG00000183346ENST00000330194p.L113Lc.339G>ASubstitution - coding silent
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEEc.40_41insAGGAGGInsertion - In frame
MAB21L1ENSG00000180660ENST00000379919p.L211Lc.631T>CSubstitution - coding silent
SLC46A3ENSG00000139508ENST00000266943p.R355Sc.1065G>CSubstitution - Missense
LNX2ENSG00000139517ENST00000316334p.R380Sc.1140G>CSubstitution - Missense
TAF5ENSG00000148835ENST00000369839p.P553Pc.1659G>CSubstitution - coding silent
ENSG00000256349ENST00000419755p.K467Nc.1401G>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G276Gc.828C>GSubstitution - coding silent
CD1BENSG00000158485ENST00000368168p.N256Sc.767A>GSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.T314Mc.941C>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.M1231Tc.3692T>CSubstitution - Missense
KIAA0368ENSG00000136813ENST00000338205p.I1460Vc.4378A>GSubstitution - Missense
SPATA6ENSG00000132122ENST00000371847p.A170Vc.509C>TSubstitution - Missense
ARNTL2ENSG00000029153ENST00000266503p.?c.1478-6A>GUnknown
NM_020824.2p.T51Mc.152C>TSubstitution - Missense
MEIOBENSG00000162039ENST00000412554p.G27Sc.79G>ASubstitution - Missense
DDX6ENSG00000110367ENST00000264018p.L275Lc.825A>GSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000324774p.L37fs*7c.109delCDeletion - Frameshift
NM_139155.1p.?c.679+8G>AUnknown
ENST00000300053p.S809Pc.2425T>CSubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.N241Nc.723C>TSubstitution - coding silent
TBCELENSG00000154114ENST00000529397p.N84Nc.252C>TSubstitution - coding silent
VWA8ENSG00000102763ENST00000379310p.S1482Sc.4446G>ASubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.A976Ac.2928C>ASubstitution - coding silent
MPLENSG00000117400ENST00000372470p.H520Pc.1559A>CSubstitution - Missense
HNRNPUENSG00000153187ENST00000283179p.R572Qc.1715G>ASubstitution - Missense
HNRNPUENSG00000153187ENST00000444376p.R553Qc.1658G>ASubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.H1024Rc.3071A>GSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
ENST00000310397_v70p.P627Pc.1881C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.I1752Ic.5256C>TSubstitution - coding silent
WWC2ENSG00000151718ENST00000403733p.E408Qc.1222G>CSubstitution - Missense
ZNF404ENSG00000176222ENST00000324394p.P3Pc.9A>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
PTPRKENSG00000152894ENST00000368226p.P830Lc.2489C>TSubstitution - Missense
SYNCRIPENSG00000135316ENST00000355238p.A323Vc.968C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.K1083Kc.3249G>ASubstitution - coding silent
FAM135AENSG00000082269ENST00000370479p.Q681Ec.2041C>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.Q589Hc.1767G>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.A796Vc.2387C>TSubstitution - Missense
ENST00000317082_v61p.F794Fc.2382T>CSubstitution - coding silent
NHSL1ENSG00000135540ENST00000343505p.R183Hc.548G>ASubstitution - Missense
PRMT7ENSG00000132600ENST00000339507p.E217Dc.651G>CSubstitution - Missense
ZNF329ENSG00000181894ENST00000358067p.H277Pc.830A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3040Pc.9120G>ASubstitution - coding silent
PTK6ENSG00000101213ENST00000217185p.?c.230+5G>AUnknown
LAMA5ENSG00000130702ENST00000252999p.T3021Tc.9063C>TSubstitution - coding silent
ZSCAN25ENSG00000197037ENST00000394152p.?c.805+6A>GUnknown
PLECENSG00000178209ENST00000345136p.A2811Tc.8431G>ASubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.E110Kc.328G>ASubstitution - Missense
BBS2ENSG00000125124ENST00000245157p.M645Tc.1934T>CSubstitution - Missense
ACTG1ENSG00000184009ENST00000331925p.S239Nc.716G>ASubstitution - Missense
TTYH1ENSG00000167614ENST00000376530p.L395Lc.1185G>ASubstitution - coding silent
ESR2ENSG00000140009ENST00000554572p.S323Sc.969C>TSubstitution - coding silent
CNOT2ENSG00000111596ENST00000229195p.M134Ic.402G>ASubstitution - Missense
SV2AENSG00000159164ENST00000369146p.A668Ac.2004G>ASubstitution - coding silent
INPPL1ENSG00000165458ENST00000298229p.V336Mc.1006G>ASubstitution - Missense
LDLRAD3ENSG00000179241ENST00000315571p.P98Pc.294C>TSubstitution - coding silent
SCELENSG00000136155ENST00000349847p.P167Pc.501C>TSubstitution - coding silent
KLF4ENSG00000136826ENST00000374672p.T419Ac.1255A>GSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
ACTBENSG00000075624ENST00000417101p.S63Rc.189C>GSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.R414Cc.1240C>TSubstitution - Missense
KCNK7ENSG00000173338ENST00000394216p.F121Lc.363C>GSubstitution - Missense
DCLK1ENSG00000133083ENST00000379893p.?c.1138-6T>AUnknown
CYB561A3ENSG00000162144ENST00000426130p.L196Fc.586C>TSubstitution - Missense
TECPR2ENSG00000196663ENST00000359520p.Y1174Cc.3521A>GSubstitution - Missense
CHFRENSG00000072609ENST00000315585p.P304Pc.912C>TSubstitution - coding silent
CELA1ENSG00000139610ENST00000293636p.C212Yc.635G>ASubstitution - Missense
ESAMENSG00000149564ENST00000278927p.S176Fc.527C>TSubstitution - Missense
PIK3AP1ENSG00000155629ENST00000339364p.R680Wc.2038C>TSubstitution - Missense
ESYT1ENSG00000139641ENST00000394048p.S838Sc.2514G>CSubstitution - coding silent
NM_005830.2p.P222Rc.665C>GSubstitution - Missense
ATAD3BENSG00000160072ENST00000308647p.Y604Hc.1810T>CSubstitution - Missense
ENST00000372796p.R823Cc.2467C>TSubstitution - Missense
KIF4AENSG00000090889ENST00000374388p.?c.236-5G>TUnknown
SYNE1ENSG00000131018ENST00000341594p.E3682Ec.11046A>GSubstitution - coding silent
PLCH1ENSG00000114805ENST00000494598p.?c.736-9T>AUnknown
ZFP36ENSG00000128016ENST00000597629p.A247Tc.739G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.K1654Mc.4961A>TSubstitution - Missense
OR51B4ENSG00000183251ENST00000380224p.M139Lc.415A>TSubstitution - Missense
DIP2CENSG00000151240ENST00000381496p.?c.939+9T>CUnknown
STK32BENSG00000152953ENST00000282908p.T383Ic.1148C>TSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ENST00000316490p.V2386Ic.7156G>ASubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.K593Nc.1779G>TSubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.E284Kc.850G>ASubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.G832Gc.2496C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000418609p.K903delKc.2709_2711delGAADeletion - In frame
SORBS2ENSG00000154556ENST00000437304p.K723delKc.2169_2171delGAADeletion - In frame
SORBS2ENSG00000154556ENST00000393528p.K565delKc.1695_1697delGAADeletion - In frame
FCHO2ENSG00000157107ENST00000430046p.K691Kc.2073A>GSubstitution - coding silent
ELAVL2ENSG00000107105ENST00000380117p.A96Gc.287C>GSubstitution - Missense
TRAPPC6AENSG00000007255ENST00000006275p.Q44Rc.131A>GSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.T284Tc.852G>ASubstitution - coding silent
SLC4A5ENSG00000188687ENST00000394019p.S79Nc.236G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2994Lc.8981C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D3669Gc.11006A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D3669Nc.11005G>ASubstitution - Missense
GAL3ST1ENSG00000128242ENST00000338911p.?c.132-2A>TUnknown
EWSR1ENSG00000182944ENST00000333395p.Q152fs*9c.448_473del26Deletion - Frameshift
CAPN10ENSG00000142330ENST00000354082p.P95Lc.284C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.?c.5613+7G>AUnknown
NSUN7ENSG00000179299ENST00000316607p.I59Vc.175A>GSubstitution - Missense
ASAP2ENSG00000151693ENST00000281419p.T845Mc.2534C>TSubstitution - Missense
SECTM1ENSG00000141574ENST00000269389p.A196Vc.587C>TSubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.P160Sc.478C>TSubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.R311Hc.932G>ASubstitution - Missense
GAS6ENSG00000183087ENST00000355761p.?c.1292_1315+1457del1481Unknown
ASTN1ENSG00000152092ENST00000367654p.Q276Pc.827A>CSubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.V436Ic.1306G>ASubstitution - Missense
ENST00000539307p.A306Tc.916G>ASubstitution - Missense
ENST00000388903p.L1188Lc.3564G>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.E79Kc.235G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
TMED4ENSG00000158604ENST00000457408p.E173Kc.517G>ASubstitution - Missense
SOX7ENSG00000171056ENST00000304501p.R44Cc.130C>TSubstitution - Missense
LPCAT1ENSG00000153395ENST00000283415p.L66Rc.197T>GSubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.?c.948-3C>TUnknown
MECOMENSG00000085276ENST00000392736p.S309Sc.927C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.G4191Gc.12573G>ASubstitution - coding silent
ENST00000326605p.W139Sc.416G>CSubstitution - Missense
XRCC6ENSG00000196419ENST00000360079p.R80Gc.238C>GSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000287898p.L367Fc.1099C>TSubstitution - Missense
TXNDC2ENSG00000168454ENST00000357775p.E393Ec.1179G>ASubstitution - coding silent
IFT122ENSG00000163913ENST00000296266p.V388Lc.1162G>CSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.K393Kc.1179G>ASubstitution - coding silent
IRS1ENSG00000169047ENST00000305123p.P737Sc.2209C>TSubstitution - Missense
PRDX4ENSG00000123131ENST00000379341p.K250*c.748A>TSubstitution - Nonsense
NM_033267.2p.A414Sc.1240G>TSubstitution - Missense
GFPT2ENSG00000131459ENST00000253778p.A150Ac.450C>TSubstitution - coding silent
DYNC1LI2ENSG00000135720ENST00000258198p.?c.699+9C>TUnknown
TRIM28ENSG00000130726ENST00000253024p.P814Lc.2441C>TSubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.S166Nc.497G>ASubstitution - Missense
PAQR3ENSG00000163291ENST00000511594p.D90Ec.270C>ASubstitution - Missense
TRAPPC12ENSG00000171853ENST00000382110p.R675Qc.2024G>ASubstitution - Missense
RPL15ENSG00000174748ENST00000354811p.R26Hc.77G>ASubstitution - Missense
ENST00000405167p.P2994Lc.8981C>TSubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.L113Lc.339T>GSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.A2948Tc.8842G>ASubstitution - Missense
IKZF3ENSG00000161405ENST00000346872p.A260Gc.779C>GSubstitution - Missense
SYNRGENSG00000006114ENST00000346661p.R141Cc.421C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.H275Hc.825C>TSubstitution - coding silent
CHST9ENSG00000154080ENST00000284224p.V194Ic.580G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G3530Gc.10590A>GSubstitution - coding silent
SLC1A1ENSG00000106688ENST00000262352p.?c.1193+1G>AUnknown
MUM1L1ENSG00000157502ENST00000337685p.D12Yc.34G>TSubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.V740Ic.2218G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E198delEc.593_595delAAGDeletion - In frame
TTNENSG00000155657ENST00000342175p.A1034Ac.3102C>TSubstitution - coding silent
CALCOCO2ENSG00000136436ENST00000258947p.?c.544-7T>CUnknown
SRSF11ENSG00000116754ENST00000370950p.P154Sc.460C>TSubstitution - Missense
OR2G6ENSG00000188558ENST00000343414p.L14Lc.42C>TSubstitution - coding silent
UBXN11ENSG00000158062ENST00000374222p.G490_P509del20c.1462_1521del60Deletion - In frame
LZICENSG00000162441ENST00000377213p.N15Nc.45T>CSubstitution - coding silent
FNBP1LENSG00000137942ENST00000260506p.R352Hc.1055G>ASubstitution - Missense
PTPN21ENSG00000070778ENST00000328736p.Q893Lc.2678A>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.I323Ic.969C>TSubstitution - coding silent
HAX1ENSG00000143575ENST00000328703p.?c.54-6T>CUnknown
ASH1LENSG00000116539ENST00000392403p.R1350fs*7c.4048delADeletion - Frameshift
NNMTENSG00000166741ENST00000299964p.S261Nc.782G>ASubstitution - Missense


COSMIC

37 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
GOPCENSG00000047932ENST00000368498p.A164Tc.490G>ASubstitution - Missense23292937
NM_032217.3p.L338Pc.1013T>CSubstitution - Missense23292937
MPLENSG00000117400ENST00000372470p.H520Pc.1559A>CSubstitution - Missense23292937
SGK1ENSG00000118515ENST00000367858p.N140Kc.420C>GSubstitution - Missense23292937
ZNF439ENSG00000171291ENST00000304030p.E177Qc.529G>CSubstitution - Missense23292937
ZNF439ENSG00000171291ENST00000304030p.Q176Pc.527A>CSubstitution - Missense23292937
PPARGC1AENSG00000109819ENST00000264867p.D430Yc.1288G>TSubstitution - Missense23292937
SGK1ENSG00000118515ENST00000367857p.N35Kc.105C>GSubstitution - Missense23292937
SGK1ENSG00000118515ENST00000413996p.N59Kc.177C>GSubstitution - Missense23292937
ERN2ENSG00000134398ENST00000256797p.R319Wc.955C>TSubstitution - Missense23292937
CEP112ENSG00000154240ENST00000535342p.R443Sc.1329A>TSubstitution - Missense23292937
PCDHGA2ENSG00000081853ENST00000394576p.G163Rc.487G>CSubstitution - Missense23292937
TSHZ2ENSG00000182463ENST00000371497p.R714Cc.2140C>TSubstitution - Missense23292937
PXKENSG00000168297ENST00000356151p.P76Hc.227C>ASubstitution - Missense23292937
TNFAIP3ENSG00000118503ENST00000237289p.C721fs*71c.2161delTDeletion - Frameshift19412164
DMXL1ENSG00000172869ENST00000311085p.M1231Tc.3692T>CSubstitution - Missense23292937
MN1ENSG00000169184ENST00000302326p.G100Dc.299G>ASubstitution - Missense23292937
KLF4ENSG00000136826ENST00000374672p.T419Ac.1255A>GSubstitution - Missense23292937
ETNPPLENSG00000164089ENST00000296486p.H63Nc.187C>ASubstitution - Missense23292937
PTPN14ENSG00000152104ENST00000366956p.A433Vc.1298C>TSubstitution - Missense23292937
CYP2C18ENSG00000108242ENST00000285979p.Q192Hc.576G>CSubstitution - Missense23292937
CEP112ENSG00000154240ENST00000392769p.R443Sc.1329A>TSubstitution - Missense23292937
NF1ENSG00000196712ENST00000358273p.R1653Lc.4958G>TSubstitution - Missense23292937
SGK1ENSG00000118515ENST00000528577p.N73Kc.219C>GSubstitution - Missense23292937
DSPENSG00000096696ENST00000379802p.E1035Kc.3103G>ASubstitution - Missense23292937
SGK1ENSG00000118515ENST00000237305p.N45Kc.135C>GSubstitution - Missense23292937
DUPD1ENSG00000188716ENST00000338487p.P36Sc.106C>TSubstitution - Missense23292937
RELNENSG00000189056ENST00000343529p.R1622*c.4864C>TSubstitution - Nonsense23292937
ENST00000305759p.G163Rc.487G>CSubstitution - Missense23292937
ZNF790ENSG00000197863ENST00000356725p.H408Pc.1223A>CSubstitution - Missense23292937
NM_017771p.P76Hc.227C>ASubstitution - Missense23292937
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.Y736Cc.2207A>GSubstitution - Missense23292937
NF1ENSG00000196712ENST00000358273p.R1653Lc.4958G>TSubstitution - Missense23292937
NFX1ENSG00000086102ENST00000379540p.C786Fc.2357G>TSubstitution - Missense23292937
MYO5CENSG00000128833ENST00000261839p.R1405Hc.4214G>ASubstitution - Missense23292937
LRIG3ENSG00000139263ENST00000320743p.L254Ic.760C>ASubstitution - Missense23292937
TNFAIP3ENSG00000118503ENST00000237289p.?c.295+1G>AUnknown19412164