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HARA - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1890 mutations reported
681 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
EIF4BENSG00000063046ENST00000262056p.G25Gc.75G>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.E4172*c.12514G>TSubstitution - Nonsense
EIF4G3ENSG00000075151ENST00000374937p.L987Lc.2961G>ASubstitution - coding silent
CR1LENSG00000197721ENST00000294997p.N156Yc.466A>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.Q1588Qc.4764G>ASubstitution - coding silent
DYRK3ENSG00000143479ENST00000367109p.Q310Qc.930G>ASubstitution - coding silent
DYRK3ENSG00000143479ENST00000367106p.Q290Qc.870G>ASubstitution - coding silent
NM_003582p.Q275Qc.825G>ASubstitution - coding silent
LOXL1ENSG00000129038ENST00000261921p.Y407Fc.1220A>TSubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.H743Hc.2229C>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.D933Yc.2797G>TSubstitution - Missense
SFTPDENSG00000133661ENST00000372292p.V304Vc.912C>TSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.L543Lc.1629A>GSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.L543Lc.1629A>GSubstitution - coding silent
RREB1ENSG00000124782ENST00000379938p.S1647Nc.4940G>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.S1592Nc.4775G>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1674Fc.5021C>TSubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.V793Vc.2379C>TSubstitution - coding silent
ENST00000436173p.F494Fc.1482C>TSubstitution - coding silent
MATN3ENSG00000132031ENST00000407540p.R108Rc.322C>ASubstitution - coding silent
NCLENSG00000115053ENST00000322723p.E38delEc.114_116delAGADeletion - In frame
GPR144ENSG00000180264ENST00000334810p.A672Tc.2014G>ASubstitution - Missense
ENST00000292077p.L17Mc.49C>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.S606Lc.1817C>TSubstitution - Missense
ENST00000545858p.V50Ac.149T>CSubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.Q350Qc.1050G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.V143Ac.428T>CSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.S781Lc.2342C>TSubstitution - Missense
GJB4ENSG00000189433ENST00000339480p.R98Rc.294C>TSubstitution - coding silent
ADSSENSG00000035687ENST00000366535p.I438Vc.1312A>GSubstitution - Missense
SLC34A1ENSG00000131183ENST00000324417p.V115Ic.343G>ASubstitution - Missense
ALX4ENSG00000052850ENST00000329255p.P317Tc.949C>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.A1819Vc.5456C>TSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.H717Nc.2149C>ASubstitution - Missense
MYF5ENSG00000111049ENST00000228644p.Q116*c.346C>TSubstitution - Nonsense
NM_014903.3p.P399Ac.1195C>GSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.T557Tc.1671C>TSubstitution - coding silent
NM_014903.3p.T557Tc.1671C>TSubstitution - coding silent
LTBRENSG00000111321ENST00000228918p.H411Dc.1231C>GSubstitution - Missense
TMEM5ENSG00000118600ENST00000261234p.R5Rc.15G>ASubstitution - coding silent
RECQLENSG00000004700ENST00000444129p.H461Rc.1382A>GSubstitution - Missense
ZNF891ENSG00000214029ENST00000397313p.G170Vc.509G>TSubstitution - Missense
OR4D5ENSG00000171014ENST00000307033p.D307Yc.919G>TSubstitution - Missense
ZDHHC16ENSG00000171307ENST00000393760p.?c.739-4C>GUnknown
ACCSLENSG00000205126ENST00000378832p.V293Vc.879T>ASubstitution - coding silent
ACCSLENSG00000205126ENST00000378832p.R458Rc.1374G>ASubstitution - coding silent
CHST1ENSG00000175264ENST00000308064p.S242*c.725C>ASubstitution - Nonsense
ALKBH3ENSG00000166199ENST00000302708p.?c.80-1G>TUnknown
RAG2ENSG00000175097ENST00000311485p.T169Rc.506C>GSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.I202Mc.606A>GSubstitution - Missense
OR4C5ENSG00000176540ENST00000319813p.L226Lc.678G>TSubstitution - coding silent
OR51F2ENSG00000176925ENST00000322110p.A21Sc.61G>TSubstitution - Missense
RAPSNENSG00000165917ENST00000298854p.G47Dc.140G>ASubstitution - Missense
AGBL2ENSG00000165923ENST00000298861p.L229Fc.687A>TSubstitution - Missense
OR51F1ENSG00000188069ENST00000343430p.D185Ec.555T>ASubstitution - Missense
INHBCENSG00000175189ENST00000309668p.R235Qc.704G>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000368135p.D229Ec.687C>GSubstitution - Missense
TLR5ENSG00000187554ENST00000366881p.P688Pc.2064T>CSubstitution - coding silent
RAB3GAP2ENSG00000118873ENST00000358951p.?c.1870+3A>GUnknown
LRIT2ENSG00000204033ENST00000372113p.A476Ac.1428A>CSubstitution - coding silent
GRID1ENSG00000182771ENST00000327946p.A608Dc.1823C>ASubstitution - Missense
PLAC9ENSG00000189129ENST00000372263p.D32Hc.94G>CSubstitution - Missense
C10orf11ENSG00000148655ENST00000372499p.L175Qc.524T>ASubstitution - Missense
SU_OBSCN.1p.H1616Rc.4847A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.H1616Rc.4847A>GSubstitution - Missense
USP54ENSG00000166348ENST00000408019p.S934Lc.2801C>TSubstitution - Missense
NM_152586.2p.S22Lc.65C>TSubstitution - Missense
PIK3AP1ENSG00000155629ENST00000339364p.A83Pc.247G>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.R191Hc.572G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
HECTD2ENSG00000165338ENST00000298068p.K143Mc.428A>TSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.S520Ic.1559G>TSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.?c.2926+8C>GUnknown
COL11A1ENSG00000060718ENST00000358392p.?c.780+8_780+9delgcUnknown
COL11A1ENSG00000060718ENST00000370096p.?c.780+8_780+9delgcUnknown
GPR183ENSG00000169508ENST00000376414p.G360*c.1078G>TSubstitution - Nonsense
AGLENSG00000162688ENST00000370163p.P842Pc.2526A>TSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.P1990Pc.5970G>CSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.P2028Pc.6084G>CSubstitution - coding silent
RETENSG00000165731ENST00000340058p.G387Vc.1160G>TSubstitution - Missense
RETENSG00000165731ENST00000355710p.S688Yc.2063C>ASubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.S295Cc.884C>GSubstitution - Missense
PFKPENSG00000067057ENST00000381075p.M194Ic.582G>ASubstitution - Missense
ZNF678ENSG00000181450ENST00000343776p.K172*c.514A>TSubstitution - Nonsense
ZNF678ENSG00000181450ENST00000397097p.K227*c.679A>TSubstitution - Nonsense
LIN9ENSG00000183814ENST00000328205p.L476Lc.1428G>ASubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.D932Yc.2794G>TSubstitution - Missense
MUCL1ENSG00000172551ENST00000308796p.I14Mc.42C>GSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.K519Nc.1557A>TSubstitution - Missense
GPALPP1ENSG00000133114ENST00000379151p.?c.540+10A>TUnknown
SSH1ENSG00000084112ENST00000326495p.K571Kc.1713A>GSubstitution - coding silent
EDNRBENSG00000136160ENST00000334286p.D75Gc.224A>GSubstitution - Missense
TRAFD1ENSG00000135148ENST00000412615p.R316Lc.947G>TSubstitution - Missense
OGFRENSG00000060491ENST00000290291p.K409Kc.1227G>ASubstitution - coding silent
RB1CC1ENSG00000023287ENST00000025008p.D300Hc.898G>CSubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.S499Ic.1496G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.V143Ac.428T>CSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.P170Pc.510G>TSubstitution - coding silent
BAI2ENSG00000121753ENST00000373658p.P170Lc.509C>TSubstitution - Missense
SDC3ENSG00000162512ENST00000339394p.P260Pc.780C>TSubstitution - coding silent
SDC3ENSG00000162512ENST00000336798p.P202Pc.606C>TSubstitution - coding silent
GOLGA6L2ENSG00000174450ENST00000312015p.?c.650+9G>TUnknown
MKRN3ENSG00000179455ENST00000314520p.K309Kc.927G>ASubstitution - coding silent
RXRGENSG00000143171ENST00000359842p.R394*c.1180C>TSubstitution - Nonsense
EPHA2ENSG00000142627ENST00000358432p.T349Mc.1046C>TSubstitution - Missense
TMEM117ENSG00000139173ENST00000266534p.G195Ec.584G>ASubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.D920Nc.2758G>ASubstitution - Missense
NM_005056.1p.D920Nc.2758G>ASubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.?c.5948+8G>TUnknown
ABCD2ENSG00000173208ENST00000308666p.W605Sc.1814G>CSubstitution - Missense
SLC19A2ENSG00000117479ENST00000236137p.A375Vc.1124C>TSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.?c.65-9G>AUnknown
PEF1ENSG00000162517ENST00000373703p.S202Nc.605G>ASubstitution - Missense
NM_007365.1p.G648Gc.1944C>TSubstitution - coding silent
ENST00000432996p.R805Kc.2414G>ASubstitution - Missense
PNLIPRP1ENSG00000187021ENST00000358834p.?c.694+8C>AUnknown
NHLRC2ENSG00000196865ENST00000369301p.L96Lc.288A>TSubstitution - coding silent
PDCD4ENSG00000150593ENST00000280154p.K37Kc.111G>ASubstitution - coding silent
AHCTF1ENSG00000153207ENST00000391829p.S1464Sc.4392G>ASubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.R178Rc.532C>ASubstitution - coding silent
GTPBP4ENSG00000107937ENST00000360803p.R525Cc.1573C>TSubstitution - Missense
ENST00000368915p.A165Ac.495C>TSubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.A165Ac.495C>TSubstitution - coding silent
SLC18A2ENSG00000165646ENST00000298472p.C374Rc.1120T>CSubstitution - Missense
UPF2ENSG00000151461ENST00000356352p.M795Lc.2383A>TSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.K1639Mc.4916A>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.K1653Mc.4958A>TSubstitution - Missense
TDGENSG00000139372ENST00000392872p.K221Rc.662A>GSubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.?c.2281+1G>CUnknown
SLC17A8ENSG00000179520ENST00000323346p.V415Gc.1244T>GSubstitution - Missense
EML3ENSG00000149499ENST00000394773p.R771Rc.2313G>CSubstitution - coding silent
PZPENSG00000126838ENST00000261336p.G1200Gc.3600G>CSubstitution - coding silent
PZPENSG00000126838ENST00000381997p.G986Gc.2958G>CSubstitution - coding silent
KRTAP5-10ENSG00000204572ENST00000398531p.S106Sc.318T>CSubstitution - coding silent
M6PRENSG00000003056ENST00000000412p.W25Cc.75G>CSubstitution - Missense
CARNS1ENSG00000172508ENST00000445895p.Y596Yc.1788C>TSubstitution - coding silent
CARNS1ENSG00000172508ENST00000307823p.Y31Yc.93C>TSubstitution - coding silent
SPTBN2ENSG00000173898ENST00000309996p.G1082Cc.3244G>TSubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.A19Ac.57G>TSubstitution - coding silent
JAKMIP3ENSG00000188385ENST00000298622p.A20Sc.58G>TSubstitution - Missense
SALL2ENSG00000165821ENST00000327430p.L238Lc.714A>GSubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.P203Rc.608C>GSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.S23Sc.69G>ASubstitution - coding silent
GLYATL1ENSG00000166840ENST00000317391p.L141Ic.421C>ASubstitution - Missense
GZMHENSG00000100450ENST00000216338p.P94Tc.280C>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.N308Kc.924C>GSubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.Q373Rc.1118A>GSubstitution - Missense
CD248ENSG00000174807ENST00000311330p.A345Ac.1035T>CSubstitution - coding silent
ACTN2ENSG00000077522ENST00000366578p.M866Ic.2598G>ASubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.Y804Yc.2412C>TSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.?c.1012-8G>TUnknown
LALBAENSG00000167531ENST00000301046p.I74Ic.222C>TSubstitution - coding silent
SH3GL3ENSG00000140600ENST00000324537p.I29Ic.87A>TSubstitution - coding silent
SH3GL3ENSG00000140600ENST00000427482p.I21Ic.63A>TSubstitution - coding silent
TSKUENSG00000182704ENST00000333090p.T177Mc.530C>TSubstitution - Missense
UCP2ENSG00000175567ENST00000310473p.N284Kc.852C>ASubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.P1169Hc.3506C>ASubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.R31Cc.91C>TSubstitution - Missense
ENST00000368148p.H1253Lc.3758A>TSubstitution - Missense
CD5LENSG00000073754ENST00000368174p.Q320Kc.958C>ASubstitution - Missense
SLC2A14ENSG00000173262ENST00000396589p.P77Rc.230C>GSubstitution - Missense
SLC24A5ENSG00000188467ENST00000341459p.?c.872-9C>AUnknown
DNAAF2ENSG00000165506ENST00000298292p.P222Qc.665C>ASubstitution - Missense
DNAAF2ENSG00000165506ENST00000298292p.P222Qc.665C>ASubstitution - Missense
KLHDC1ENSG00000197776ENST00000359332p.L263Lc.787C>TSubstitution - coding silent
PACS1ENSG00000175115ENST00000320580p.?c.534+4A>TUnknown
CCDC60ENSG00000183273ENST00000327554p.A159Vc.476C>TSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.A88Sc.262G>TSubstitution - Missense
ST3GAL3ENSG00000126091ENST00000361746p.R365Rc.1095G>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.T1860Tc.5580A>TSubstitution - coding silent
C1orf167ENSG00000215910ENST00000433342p.G585fs*23c.1750_1751delGGDeletion - Frameshift
CD101ENSG00000134256ENST00000369470p.A374Sc.1120G>TSubstitution - Missense
CASQ2ENSG00000118729ENST00000261448p.L72Mc.214C>ASubstitution - Missense
ACADSENSG00000122971ENST00000242592p.A138Vc.413C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.S2187Sc.6561G>ASubstitution - coding silent
TSR3ENSG00000007520ENST00000007390p.E213Ec.639G>ASubstitution - coding silent
JMJD1CENSG00000171988ENST00000402544p.H517Nc.1549C>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000379775p.L43Lc.129C>ASubstitution - coding silent
RHOBTB1ENSG00000072422ENST00000357917p.G516Gc.1548G>TSubstitution - coding silent
SF1ENSG00000168066ENST00000334944p.S331Sc.993C>GSubstitution - coding silent
UNC5BENSG00000107731ENST00000335350p.?c.1100-4G>AUnknown
PALD1ENSG00000107719ENST00000263563p.P633Pc.1899C>GSubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.A1356Tc.4066G>ASubstitution - Missense
PDILTENSG00000169340ENST00000302451p.E120Vc.359A>TSubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.G851Gc.2553A>GSubstitution - coding silent
MKXENSG00000150051ENST00000375790p.G18Ec.53G>ASubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.D127Ec.381C>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377329p.N366Nc.1098C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000396576p.N365Nc.1095C>TSubstitution - coding silent
ATF7IP2ENSG00000166669ENST00000396560p.E328Ac.983A>CSubstitution - Missense
SYNMENSG00000182253ENST00000336292p.S1201Lc.3602C>TSubstitution - Missense
FESENSG00000182511ENST00000328850p.?c.388-10C>TUnknown
UNC45AENSG00000140553ENST00000418476p.L237Lc.709C>TSubstitution - coding silent
SNW1ENSG00000100603ENST00000261531p.Q381Hc.1143G>CSubstitution - Missense
PRMT6ENSG00000198890ENST00000370078p.E130*c.388G>TSubstitution - Nonsense
ENST00000540389p.R291Rc.873G>ASubstitution - coding silent
MAGI3ENSG00000081026ENST00000307546p.E1150Qc.3448G>CSubstitution - Missense
C1orf162ENSG00000143110ENST00000343534p.S112Sc.336C>TSubstitution - coding silent
EXOSC10ENSG00000171824ENST00000376936p.V772Lc.2314G>CSubstitution - Missense
CEPT1ENSG00000134255ENST00000357172p.L32Ic.94T>ASubstitution - Missense
CRAMP1LENSG00000007545ENST00000436138p.V1008Mc.3022G>ASubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.R1286Rc.3858G>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.S314Sc.942T>CSubstitution - coding silent
NSUN6ENSG00000241058ENST00000377304p.?c.657+9G>AUnknown
ZFC3H1ENSG00000133858ENST00000378743p.A1368Vc.4103C>TSubstitution - Missense
LPCAT3ENSG00000111684ENST00000261407p.H250Hc.750C>TSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000526355p.V387Vc.1161G>TSubstitution - coding silent
ENST00000450700p.G34*c.100G>TSubstitution - Nonsense
METTL15ENSG00000169519ENST00000407364p.K137Nc.411A>TSubstitution - Missense
NPATENSG00000149308ENST00000278612p.L1389Fc.4165C>TSubstitution - Missense
ATMENSG00000149311ENST00000278616p.T935Rc.2804C>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.T935Rc.2804C>GSubstitution - Missense
C1orf127ENSG00000175262ENST00000377008p.P167Pc.501G>TSubstitution - coding silent
FCGR3AENSG00000203747ENST00000367969p.P60fs*20c.179delCDeletion - Frameshift
SEC16BENSG00000120341ENST00000308284p.P269Ac.805C>GSubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.M701Ic.2103G>TSubstitution - Missense
EDEM3ENSG00000116406ENST00000318130p.L113Lc.337T>CSubstitution - coding silent
RNF2ENSG00000121481ENST00000367510p.R196Wc.586C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.E2586Gc.7757A>GSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.G888Gc.2664G>CSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.K2010Kc.6030A>GSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.K2010Kc.6030A>GSubstitution - coding silent
FMO1ENSG00000010932ENST00000354841p.M66Kc.197T>ASubstitution - Missense
NM_000655.2p.D37Nc.109G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.T839Tc.2517C>TSubstitution - coding silent
AQRENSG00000021776ENST00000156471p.A508Ac.1524G>ASubstitution - coding silent
SACSENSG00000151835ENST00000382298p.H3351Qc.10053C>ASubstitution - Missense
WWOXENSG00000186153ENST00000566780p.Q43Pc.128A>CSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.G151Ac.452G>CSubstitution - Missense
PCNXL4ENSG00000126773ENST00000406854p.V57Fc.169G>TSubstitution - Missense
BMP4ENSG00000125378ENST00000559087p.R253Sc.759G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.?c.3191-9A>TUnknown
GPR65ENSG00000140030ENST00000267549p.G265Vc.794G>TSubstitution - Missense
FLRT2ENSG00000185070ENST00000330753p.Y628Fc.1883A>TSubstitution - Missense
PDCD7ENSG00000090470ENST00000204549p.S455Tc.1363T>ASubstitution - Missense
SLC24A1ENSG00000074621ENST00000261892p.W583Gc.1747T>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.V59Vc.177G>CSubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.V59Vc.177G>CSubstitution - coding silent
BCAR3ENSG00000137936ENST00000260502p.E390Dc.1170G>TSubstitution - Missense
BRDTENSG00000137948ENST00000362005p.V813Lc.2437G>CSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.A231Gc.692C>GSubstitution - Missense
OR2M7ENSG00000177186ENST00000317965p.P22Tc.64C>ASubstitution - Missense
OR2W3ENSG00000238243ENST00000360358p.L202Lc.606G>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.Q559Pc.1676A>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.Q559Pc.1676A>CSubstitution - Missense
LEPRENSG00000116678ENST00000344610p.C753Sc.2258G>CSubstitution - Missense
LEPRENSG00000116678ENST00000371060p.C753Sc.2258G>CSubstitution - Missense
LIN28AENSG00000131914ENST00000326279p.R30Rc.90G>ASubstitution - coding silent
WDR63ENSG00000162643ENST00000294664p.S10*c.29C>GSubstitution - Nonsense
TTLL7ENSG00000137941ENST00000260505p.F141Lc.423C>ASubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.S325Rc.975C>GSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.T323Nc.968C>ASubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.Q601Kc.1801C>ASubstitution - Missense
TNNI3KENSG00000116783ENST00000326637p.K287Kc.861G>ASubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000358823p.A773Tc.2317G>ASubstitution - Missense
TEX9ENSG00000151575ENST00000352903p.G3Ac.8G>CSubstitution - Missense
TEX9ENSG00000151575ENST00000352903p.Q24Lc.71A>TSubstitution - Missense
GLDNENSG00000186417ENST00000335449p.C136Cc.408C>TSubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.Y2124Cc.6371A>GSubstitution - Missense
GPR133ENSG00000111452ENST00000261654p.Y398*c.1194C>ASubstitution - Nonsense
FZD10ENSG00000111432ENST00000229030p.G186Sc.556G>ASubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.C580*c.1740C>ASubstitution - Nonsense
UBCENSG00000150991ENST00000339647p.R130Hc.389G>ASubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.S206Rc.618T>ASubstitution - Missense
FSCBENSG00000189139ENST00000340446p.T157Tc.471A>GSubstitution - coding silent
KLHL28ENSG00000179454ENST00000396128p.R213Lc.638G>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000399232p.G854Vc.2561G>TSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.F9Ic.25T>ASubstitution - Missense
ENSG00000258790ENST00000557565p.D35Vc.104A>TSubstitution - Missense
ENST00000322367p.K551Kc.1653G>ASubstitution - coding silent
ITPR2ENSG00000123104ENST00000381340p.?c.6220-2A>TUnknown
CACNA1CENSG00000151067ENST00000347598p.K1036Kc.3108G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.K1016Kc.3048G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.K1016Kc.3048G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.K1016Kc.3048G>ASubstitution - coding silent
OR4N4ENSG00000183706ENST00000328795p.R122Hc.365G>ASubstitution - Missense
SPRR2FENSG00000244094ENST00000468739p.P37Pc.111A>GSubstitution - coding silent
POGZENSG00000143442ENST00000491586p.M1142fs*16c.3424_3425insTInsertion - Frameshift
SETDB1ENSG00000143379ENST00000271640p.T492Tc.1476G>ASubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.T492Tc.1476G>ASubstitution - coding silent
MLLT11ENSG00000213190ENST00000368921p.W15Rc.43T>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.K412Kc.1236G>ASubstitution - coding silent
EPB42ENSG00000166947ENST00000300215p.S531Ic.1592G>TSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.H966Lc.2897A>TSubstitution - Missense
EHD4ENSG00000103966ENST00000220325p.G17Cc.49G>TSubstitution - Missense
BSNDENSG00000162399ENST00000371265p.L263Lc.789G>ASubstitution - coding silent
CC2D1BENSG00000154222ENST00000371586p.?c.2448+6G>TUnknown
BEND5ENSG00000162373ENST00000371833p.L315Pc.944T>CSubstitution - Missense
CYP4A11ENSG00000187048ENST00000310638p.K377*c.1129A>TSubstitution - Nonsense
SHANK1ENSG00000161681ENST00000293441p.L584Vc.1750C>GSubstitution - Missense
TEAD2ENSG00000074219ENST00000311227p.G15Sc.43G>ASubstitution - Missense
PRRG2ENSG00000126460ENST00000246794p.A77Tc.229G>ASubstitution - Missense
UBA2ENSG00000126261ENST00000246548p.Q310Qc.930G>ASubstitution - coding silent
RASSF2ENSG00000101265ENST00000379400p.Q203Hc.609G>TSubstitution - Missense
KIAA1755ENSG00000149633ENST00000279024p.G238Cc.712G>TSubstitution - Missense
MROH8ENSG00000101353ENST00000400441p.L713Lc.2139C>TSubstitution - coding silent
EDEM2ENSG00000088298ENST00000374492p.C488Fc.1463G>TSubstitution - Missense
BPIFB4ENSG00000186191ENST00000375483p.M451Ic.1353G>ASubstitution - Missense
CDH26ENSG00000124215ENST00000348616p.E226Gc.677A>GSubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.E226Gc.677A>GSubstitution - Missense
RAB22AENSG00000124209ENST00000244040p.?c.36_37-2del1030Unknown
RAB22AENSG00000124209ENST00000244040p.?c.487+1_488-1del5340Unknown
SPO11ENSG00000054796ENST00000371263p.F13Sc.38T>CSubstitution - Missense
H3F3BENSG00000132475ENST00000254810p.K5Mc.14A>TSubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.Y473*c.1419T>GSubstitution - Nonsense
ENST00000221482p.P479Tc.1435C>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.E1278*c.3832G>TSubstitution - Nonsense
ENST00000428290_v65p.V1150Fc.3448G>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S914*c.2741C>GSubstitution - Nonsense
PPFIA3ENSG00000177380ENST00000334186p.?c.583-5T>CUnknown
ANKRD27ENSG00000105186ENST00000306065p.V670Lc.2008G>TSubstitution - Missense
ALG13ENSG00000101901ENST00000251943p.G550*c.1648G>TSubstitution - Nonsense
NM_024810.1p.G55*c.163G>TSubstitution - Nonsense
MYBL1ENSG00000185697ENST00000522677p.C514Fc.1541G>TSubstitution - Missense
C3ENSG00000125730ENST00000245907p.T1390Ac.4168A>GSubstitution - Missense
NM_003685.1p.T645Tc.1935G>ASubstitution - coding silent
TFDP3ENSG00000183434ENST00000310125p.K214Ic.641A>TSubstitution - Missense
ACTRT1ENSG00000123165ENST00000371124p.Q291Kc.871C>ASubstitution - Missense
ACTRT1ENSG00000123165ENST00000371124p.I290Ic.870C>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.Y1823Hc.5467T>CSubstitution - Missense
CUL4BENSG00000158290ENST00000371322p.Y589Cc.1766A>GSubstitution - Missense
NUTM2FENSG00000130950ENST00000341207p.Q428Hc.1284G>TSubstitution - Missense
ACTL9ENSG00000181786ENST00000324436p.T77Nc.230C>ASubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R2540Hc.7619G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R2494Hc.7481G>ASubstitution - Missense
ENST00000356127p.R2540Hc.7619G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R2494Hc.7481G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.R2540Hc.7619G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.A3582Ac.10746A>CSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.?c.6076-1G>TUnknown
NEUROD1ENSG00000162992ENST00000295108p.I150Ic.450C>ASubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.P66Pc.198C>ASubstitution - coding silent
SMARCAL1ENSG00000138375ENST00000357276p.?c.862+1G>AUnknown
ABCA12ENSG00000144452ENST00000272895p.N1772fs*47c.5315delADeletion - Frameshift
APOBENSG00000084674ENST00000233242p.M3458Tc.10373T>CSubstitution - Missense
MLKLENSG00000168404ENST00000308807p.L309fs*31c.926delTDeletion - Frameshift
RICTORENSG00000164327ENST00000296782p.?c.456+10A>GUnknown
RICTORENSG00000164327ENST00000357387p.?c.456+10A>GUnknown
ENST00000318301p.V380Ac.1139T>CSubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.?c.1265+8G>TUnknown
ENST00000446427p.G29Rc.85G>ASubstitution - Missense
EPN3ENSG00000049283ENST00000268933p.T536Ic.1607C>TSubstitution - Missense
KIAA1107ENSG00000069712ENST00000370378p.H621Lc.1862A>TSubstitution - Missense
CA6ENSG00000131686ENST00000377443p.G123Gc.369C>TSubstitution - coding silent
GBP2ENSG00000162645ENST00000370466p.K460Qc.1378A>CSubstitution - Missense
SMAD3ENSG00000166949ENST00000439724p.?c.75-10G>AUnknown
ZDHHC20ENSG00000180776ENST00000382466p.?c.250-5T>GUnknown
ZDHHC20ENSG00000180776ENST00000400590p.?c.250-5T>GUnknown
ING1ENSG00000153487ENST00000375774p.R162Pc.485G>CSubstitution - Missense
CYP46A1ENSG00000036530ENST00000261835p.?c.980+8G>AUnknown
UGT3A2ENSG00000168671ENST00000282507p.W513Rc.1537T>ASubstitution - Missense
GPR176ENSG00000166073ENST00000561100p.Y205Nc.613T>ASubstitution - Missense
ENST00000418096p.H80Hc.240C>TSubstitution - coding silent
AKR1B15ENSG00000227471ENST00000423958p.?c.234+6C>TUnknown
CAPNS2ENSG00000256812ENST00000457326p.Q28Hc.84G>CSubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.S583Sc.1749T>CSubstitution - coding silent
TOX3ENSG00000103460ENST00000407228p.G292Rc.874G>CSubstitution - Missense
KRTAP9-9ENSG00000198083ENST00000394008p.S40Pc.118T>CSubstitution - Missense
KRT40ENSG00000204889ENST00000398486p.S19Sc.57C>TSubstitution - coding silent
CHAF1BENSG00000159259ENST00000314103p.T366Tc.1098G>ASubstitution - coding silent
C21orf54ENSG00000229086ENST00000451980p.E41Kc.121G>ASubstitution - Missense
GRXCR1ENSG00000215203ENST00000399770p.C274*c.822T>ASubstitution - Nonsense
TRAPPC10ENSG00000160218ENST00000291574p.?c.1469+10T>AUnknown
PDXKENSG00000160209ENST00000291565p.G122Sc.364G>ASubstitution - Missense
PCP4ENSG00000183036ENST00000328619p.A42Ac.126A>TSubstitution - coding silent
NM_015009.1p.S627*c.1880C>ASubstitution - Nonsense
ENST00000420871_v68p.?c.640-4T>GUnknown
ANKRD36CENSG00000174501ENST00000420871p.?c.640-4T>GUnknown
ANKRD36CENSG00000174501ENST00000295246p.?c.1150-4T>GUnknown
SDAD1ENSG00000198301ENST00000356260p.T402Ic.1205C>TSubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.T252Mc.755C>TSubstitution - Missense
UGT2A1ENSG00000173610ENST00000503640p.T243Mc.728C>TSubstitution - Missense
GBE1ENSG00000114480ENST00000429644p.R565Lc.1694G>TSubstitution - Missense
NUP93ENSG00000102900ENST00000308159p.K633Qc.1897A>CSubstitution - Missense
CPNE2ENSG00000140848ENST00000290776p.A12Ac.36G>CSubstitution - coding silent
TAF4BENSG00000141384ENST00000269142p.I298Ic.894C>TSubstitution - coding silent
RAB40BENSG00000141542ENST00000571995p.D69Dc.207T>CSubstitution - coding silent
SETBP1ENSG00000152217ENST00000282030p.D1480Vc.4439A>TSubstitution - Missense
DTNAENSG00000134769ENST00000444659p.M286Ic.858G>ASubstitution - Missense
DTNAENSG00000134769ENST00000399121p.M286Ic.858G>ASubstitution - Missense
DTNAENSG00000134769ENST00000315456p.M286Ic.858G>ASubstitution - Missense
ENST00000554864_v68p.M286Ic.858G>ASubstitution - Missense
DTNAENSG00000134769ENST00000554864p.M286Ic.858G>ASubstitution - Missense
TNPO2ENSG00000105576ENST00000425528p.Q625Qc.1875G>ASubstitution - coding silent
TNPO2ENSG00000105576ENST00000441499p.Q625Qc.1875G>ASubstitution - coding silent
ZNF878ENSG00000257446ENST00000602107p.T521fs*6c.1557_1558delTCDeletion - Frameshift
ENST00000427879p.P385Pc.1155C>ASubstitution - coding silent
ENST00000434864p.G67Ac.200G>CSubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.S171Nc.512G>ASubstitution - Missense
KRTAP10-2ENSG00000205445ENST00000391621p.L43Lc.129G>ASubstitution - coding silent
C17orf82ENSG00000187013ENST00000335108p.G247Gc.741G>TSubstitution - coding silent
KCNJ12ENSG00000184185ENST00000331718p.P279Pc.837G>TSubstitution - coding silent
BPTFENSG00000171634ENST00000335221p.D1338Nc.4012G>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.?c.4920-9C>TUnknown
C17orf70ENSG00000185504ENST00000327787p.K182Rc.545A>GSubstitution - Missense
AATKENSG00000181409ENST00000326724p.G1016Gc.3048C>ASubstitution - coding silent
MAMDC2ENSG00000165072ENST00000377182p.L238fs*21c.711_712insTInsertion - Frameshift
ENST00000399933_v61p.I971Vc.2911A>GSubstitution - Missense
JAK2ENSG00000096968ENST00000381652p.?c.2887-1G>AUnknown
SLC18A1ENSG00000036565ENST00000276373p.P384Tc.1150C>ASubstitution - Missense
KBTBD8ENSG00000163376ENST00000417314p.T110Ic.329C>TSubstitution - Missense
KBTBD8ENSG00000163376ENST00000295568p.T84Ic.251C>TSubstitution - Missense
FAM19A1ENSG00000183662ENST00000478136p.C107Yc.320G>ASubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.R145Lc.434G>TSubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.S402Cc.1204A>TSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.S604Sc.1812T>CSubstitution - coding silent
CEBPBENSG00000172216ENST00000303004p.K293Kc.879G>ASubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.S302fs*21c.901_902insTInsertion - Frameshift
WASLENSG00000106299ENST00000223023p.K37Nc.111A>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.L267Lc.801T>CSubstitution - coding silent
FERMT1ENSG00000101311ENST00000217289p.R522Rc.1564C>ASubstitution - coding silent
ENST00000339538p.R522Rc.1564C>ASubstitution - coding silent
TRMT10BENSG00000165275ENST00000297994p.S57Gc.169A>GSubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.Y840Cc.2519A>GSubstitution - Missense
FAM189A2ENSG00000135063ENST00000257515p.I241Tc.722T>CSubstitution - Missense
ZNF556ENSG00000172000ENST00000307635p.A334Ac.1002G>ASubstitution - coding silent
WDR35ENSG00000118965ENST00000345530p.R353Cc.1057C>TSubstitution - Missense
CNGA3ENSG00000144191ENST00000272602p.W203Lc.608G>TSubstitution - Missense
EFR3BENSG00000084710ENST00000403714p.T683Ac.2047A>GSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.S84Cc.251C>GSubstitution - Missense
SLC5A2ENSG00000140675ENST00000330498p.?c.304-5C>TUnknown
ITGADENSG00000156886ENST00000389202p.G415Rc.1243G>CSubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.L584Ic.1750C>ASubstitution - Missense
ZNF778ENSG00000170100ENST00000433976p.G651Rc.1951G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.G1881Gc.5643C>TSubstitution - coding silent
NUDT16L1ENSG00000168101ENST00000304301p.H100Hc.300C>TSubstitution - coding silent
FOXC2ENSG00000176692ENST00000320354p.K139Kc.417G>ASubstitution - coding silent
NLRC3ENSG00000167984ENST00000301749p.V187Vc.561C>TSubstitution - coding silent
NLRC3ENSG00000167984ENST00000324659p.V122Vc.366C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.G9208Vc.27623G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G9275Vc.27824G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Q22014Kc.66040C>ASubstitution - Missense
ENST00000356127p.Q22012Kc.66034C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.Q15709Kc.47125C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.G26994Sc.80980G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G20622Sc.61864G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G20689Sc.62065G>ASubstitution - Missense
COQ10BENSG00000115520ENST00000263960p.D93Vc.278A>TSubstitution - Missense
ANKRD44ENSG00000065413ENST00000282272p.G957Rc.2869G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.A12569Vc.37706C>TSubstitution - Missense
ENST00000356127p.A12569Vc.37706C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A6264Vc.18791C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.P3105Hc.9314C>ASubstitution - Missense
PPP6R1ENSG00000105063ENST00000412770p.P872Pc.2616G>ASubstitution - coding silent
FCARENSG00000186431ENST00000355524p.S32Sc.96T>GSubstitution - coding silent
ENST00000433231p.S32Sc.96T>GSubstitution - coding silent
CHMP1BENSG00000255112ENST00000526991p.K27Ec.79A>GSubstitution - Missense
ENST00000526991_v68p.K27Ec.79A>GSubstitution - Missense
WDR16ENSG00000166596ENST00000352665p.N589Tc.1766A>CSubstitution - Missense
RPL26ENSG00000161970ENST00000293842p.S46Sc.138C>GSubstitution - coding silent
FASTKD5ENSG00000215251ENST00000380266p.L8Lc.24A>GSubstitution - coding silent
EFCAB8ENSG00000215529ENST00000400522p.D64Ec.192C>GSubstitution - Missense
ENST00000278882_v61p.G95Ac.284G>CSubstitution - Missense
NINLENSG00000101004ENST00000278886p.S512Lc.1535C>TSubstitution - Missense
DFNB59ENSG00000204311ENST00000375129p.W347Cc.1041G>TSubstitution - Missense
SP9ENSG00000217236ENST00000394967p.A393Ac.1179C>TSubstitution - coding silent
TANGO2ENSG00000183597ENST00000456048p.D149Ac.446A>CSubstitution - Missense
TANGO2ENSG00000183597ENST00000327374p.D211Gc.632A>GSubstitution - Missense
TANGO2ENSG00000183597ENST00000456048p.D216Gc.647A>GSubstitution - Missense
PRSS1ENSG00000204983ENST00000311737p.A148Ac.444G>TSubstitution - coding silent
DENND2AENSG00000146966ENST00000275884p.?c.2999-4T>CUnknown
DENND2AENSG00000146966ENST00000275884p.D885Ec.2655C>ASubstitution - Missense
ADCK2ENSG00000133597ENST00000072869p.A137Dc.410C>ASubstitution - Missense
TIGD5ENSG00000179886ENST00000321385p.A374Ac.1122C>ASubstitution - coding silent
GDAP1ENSG00000104381ENST00000220822p.L349Lc.1045T>CSubstitution - coding silent
ENST00000400156_v68p.S121Sc.363G>TSubstitution - coding silent
ZNF705GENSG00000215372ENST00000400156p.S121Sc.363G>TSubstitution - coding silent
NCOA2ENSG00000140396ENST00000452400p.G941Sc.2821G>ASubstitution - Missense
ZNF517ENSG00000197363ENST00000359971p.L413Vc.1237C>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.?c.2203-10C>GUnknown
ZFHX4ENSG00000091656ENST00000521891p.G812Cc.2434G>TSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.R596Qc.1787G>ASubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.R366Qc.1097G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.L195Qc.584T>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.L658Pc.1973T>CSubstitution - Missense
ENST00000273600p.L658Pc.1973T>CSubstitution - Missense
SVOPLENSG00000157703ENST00000419765p.R15Wc.43C>TSubstitution - Missense
TRIM24ENSG00000122779ENST00000343526p.R539Tc.1616G>CSubstitution - Missense
TRIM24ENSG00000122779ENST00000415680p.R505Tc.1514G>CSubstitution - Missense
WDR91ENSG00000105875ENST00000354475p.F672Fc.2016C>TSubstitution - coding silent
ACOXLENSG00000153093ENST00000439055p.V446Mc.1336G>ASubstitution - Missense
NPHP1ENSG00000144061ENST00000316534p.E677Qc.2029G>CSubstitution - Missense
SULT1C3ENSG00000196228ENST00000329106p.S260Sc.780C>TSubstitution - coding silent
NUDT12ENSG00000112874ENST00000230792p.?c.965-7T>CUnknown
SCN5AENSG00000183873ENST00000413689p.T570Ic.1709C>TSubstitution - Missense
ENST00000333535_v68p.T570Ic.1709C>TSubstitution - Missense
LRRC36ENSG00000159708ENST00000329956p.S457Sc.1371A>GSubstitution - coding silent
GPR56ENSG00000205336ENST00000566508p.?c.68+9A>TUnknown
WHSC1L1ENSG00000147548ENST00000317025p.D639Dc.1917T>CSubstitution - coding silent
NRG1ENSG00000157168ENST00000356819p.A163Ac.489A>GSubstitution - coding silent
NRG1ENSG00000157168ENST00000521670p.A163Ac.489A>GSubstitution - coding silent
CACNA1FENSG00000102001ENST00000376265p.K770Nc.2310G>TSubstitution - Missense
ZNF416ENSG00000083817ENST00000196489p.E463*c.1387G>TSubstitution - Nonsense
NLRP4ENSG00000160505ENST00000587891p.P137Pc.411C>TSubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.C775*c.2325C>ASubstitution - Nonsense
NM_145686p.L479Lc.1437G>ASubstitution - coding silent
C17orf74ENSG00000184560ENST00000333870p.H111Nc.331C>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000296343p.E293Kc.877G>ASubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.?c.774-1G>TUnknown
PAK2ENSG00000180370ENST00000327134p.?c.774-1G>TUnknown
COL25A1ENSG00000188517ENST00000399126p.K155Ec.463A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R90Gc.268A>GSubstitution - Missense
ADH7ENSG00000196344ENST00000209665p.I89Nc.266T>ASubstitution - Missense
COL8A1ENSG00000144810ENST00000273342p.Q555Lc.1664A>TSubstitution - Missense
HERC3ENSG00000138641ENST00000402738p.E38Dc.114A>TSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.R952Cc.2854C>TSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.L185Rc.554T>GSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.L152Rc.455T>GSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.A184Vc.551C>TSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.A151Vc.452C>TSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.R1532Gc.4594C>GSubstitution - Missense
BPIFCENSG00000184459ENST00000397452p.V379Ac.1136T>CSubstitution - Missense
TCN2ENSG00000185339ENST00000215838p.I329Ic.987C>ASubstitution - coding silent
TBC1D10AENSG00000099992ENST00000215790p.?c.639+2T>CUnknown
ZNRF3ENSG00000183579ENST00000544604p.?c.301-2A>TUnknown
MYO18BENSG00000133454ENST00000335473p.G330Cc.988G>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.L1557Pc.4670T>CSubstitution - Missense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
VITENSG00000205221ENST00000379242p.D546Yc.1636G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T5387Mc.16160C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.T1151Mc.3452C>TSubstitution - Missense
NM_206943.1p.E970Dc.2910G>TSubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.?c.991+4C>TUnknown
BIRC6ENSG00000115760ENST00000421745p.?c.7252+8A>TUnknown
FAM179AENSG00000189350ENST00000379558p.P258Pc.774C>ASubstitution - coding silent
ZNF512ENSG00000243943ENST00000355467p.R564Pc.1691G>CSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.E367Dc.1101A>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.V91Ac.272T>CSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1032Sc.3096T>CSubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.I25Lc.73A>CSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.S1554Fc.4661C>TSubstitution - Missense
OGFRENSG00000060491ENST00000370461p.K357Kc.1071G>ASubstitution - coding silent
ENST00000370468p.K409Kc.1227G>ASubstitution - coding silent
PRKCGENSG00000126583ENST00000263431p.W223Cc.669G>CSubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.W223Cc.669G>CSubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.E514Ec.1542A>GSubstitution - coding silent
NM_000933.2p.I1002Sc.3005T>GSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.Y260Hc.778T>CSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.P252Qc.755C>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.P234Qc.701C>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.D293Yc.877G>TSubstitution - Missense
NM_000933.2p.S89*c.266C>GSubstitution - Nonsense
PRPF6ENSG00000101161ENST00000266079p.L331Vc.991C>GSubstitution - Missense
MATN3ENSG00000132031ENST00000407540p.S107Sc.321C>ASubstitution - coding silent
ITPR1ENSG00000150995ENST00000357086p.I2283Ic.6849C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000456211p.I2268Ic.6804C>TSubstitution - coding silent
CMYA5ENSG00000164309ENST00000446378p.G2007Rc.6019G>CSubstitution - Missense
ENST00000238522p.G2007Rc.6019G>CSubstitution - Missense
MTRRENSG00000124275ENST00000264668p.T398fs*171c.1192delADeletion - Frameshift
KLHL30ENSG00000168427ENST00000409223p.A111Vc.332C>TSubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.A514Vc.1541C>TSubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.A514Vc.1541C>TSubstitution - Missense
ENST00000310276p.?c.3281-3T>CUnknown
PEX13ENSG00000162928ENST00000295030p.L299Qc.896T>ASubstitution - Missense
PODXL2ENSG00000114631ENST00000342480p.P53Lc.158C>TSubstitution - Missense
PODXL2ENSG00000114631ENST00000342480p.D60Dc.180C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E5010*c.15028G>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.T4871Sc.14612C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.T4871Sc.14612C>GSubstitution - Missense
NR0B1ENSG00000169297ENST00000378970p.Q357Ec.1069C>GSubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.A190Sc.568G>TSubstitution - Missense
YY2ENSG00000230797ENST00000429584p.D228Vc.683A>TSubstitution - Missense
ENST00000396788p.?c.4000-7C>AUnknown
CNTNAP5ENSG00000155052ENST00000431078p.S374Ic.1121G>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.P384Pc.1152C>GSubstitution - coding silent
LPIN1ENSG00000134324ENST00000256720p.P356Ac.1066C>GSubstitution - Missense
GIGYF2ENSG00000204120ENST00000373563p.P172Ac.514C>GSubstitution - Missense
SP110ENSG00000135899ENST00000258381p.D706Dc.2118C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.R1013Wc.3037C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.P1016Hc.3047C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A6915Ac.20745C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.A6915Ac.20745C>ASubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.A1405Dc.4214C>ASubstitution - Missense
ADGBENSG00000118492ENST00000367488p.A128Dc.383C>ASubstitution - Missense
CRHR2ENSG00000106113ENST00000348438p.?c.999-8G>AUnknown
CRHR2ENSG00000106113ENST00000341843p.?c.876-8G>AUnknown
BRAT1ENSG00000106009ENST00000340611p.P106Lc.317C>TSubstitution - Missense
ENST00000297027p.H24Yc.70C>TSubstitution - Missense
ENST00000283921_v68p.?c.958+9G>AUnknown
FAM126AENSG00000122591ENST00000432176p.A356Vc.1067C>TSubstitution - Missense
CHST12ENSG00000136213ENST00000258711p.L13Pc.38T>CSubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.?c.1168-9T>CUnknown
C7orf62ENSG00000164645ENST00000297203p.L46Ic.136C>ASubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.S300Yc.899C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A967Ac.2901C>TSubstitution - coding silent
SEMA3AENSG00000075213ENST00000265362p.Y607Fc.1820A>TSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.R255Qc.764G>ASubstitution - Missense
BBS12ENSG00000181004ENST00000314218p.Y635Yc.1905C>TSubstitution - coding silent
MAP7ENSG00000135525ENST00000354570p.E598Ec.1794G>ASubstitution - coding silent
ADAMTS12ENSG00000151388ENST00000504830p.A1546Sc.4636G>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.?c.4607-10C>AUnknown
ADAMTS12ENSG00000151388ENST00000504830p.S1107Sc.3321C>GSubstitution - coding silent
DROSHAENSG00000113360ENST00000511367p.R291Sc.873A>CSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.S1208Sc.3624C>TSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.L1379Lc.4137G>ASubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.?c.1002+9A>CUnknown
PRDM9ENSG00000164256ENST00000296682p.K192Ec.574A>GSubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.P170Hc.509C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.P1016Hc.3047C>ASubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.Y484Hc.1450T>CSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.Y484Hc.1450T>CSubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.D742Yc.2224G>TSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.P566Tc.1696C>ASubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.P566Rc.1697C>GSubstitution - Missense
NM_152536.2p.P325Rc.974C>GSubstitution - Missense
QRFPRENSG00000186867ENST00000394427p.I199Sc.596T>GSubstitution - Missense
ALPK1ENSG00000073331ENST00000458497p.E24Dc.72A>TSubstitution - Missense
ANKRD28ENSG00000206560ENST00000383777p.?c.1416-7C>GUnknown
KDM5DENSG00000012817ENST00000317961p.H306Rc.917A>GSubstitution - Missense
PCDH11YENSG00000099715ENST00000362095p.V717Gc.2150T>GSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.I1031Mc.3093A>GSubstitution - Missense
ERAP2ENSG00000164308ENST00000437043p.K484Nc.1452G>TSubstitution - Missense
TAS2R1ENSG00000169777ENST00000382492p.L191Lc.573T>ASubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.V2620Vc.7860G>TSubstitution - coding silent
TXNDC2ENSG00000168454ENST00000306084p.P174Sc.520C>TSubstitution - Missense
LCTENSG00000115850ENST00000264162p.W1792Lc.5375G>TSubstitution - Missense
CYP4F31PENSG00000178206ENST00000416266p.E46fs*15c.134delGDeletion - Frameshift
TOPBP1ENSG00000163781ENST00000260810p.K1326Tc.3977A>CSubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.V396Ic.1186G>ASubstitution - Missense
NM_007027.2p.V309Ic.925G>ASubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.G227Vc.680G>TSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.E525Qc.1573G>CSubstitution - Missense
PLIN5ENSG00000214456ENST00000381848p.D440Vc.1319A>TSubstitution - Missense
IZUMO4ENSG00000099840ENST00000395301p.S124Nc.371G>ASubstitution - Missense
ENST00000300960p.S124Nc.371G>ASubstitution - Missense
ENST00000314315p.R42*c.124C>TSubstitution - Nonsense
SLC25A42ENSG00000181035ENST00000318596p.S36Fc.107C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.V1455Ic.4363G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.V1455Ic.4363G>ASubstitution - Missense
FGF21ENSG00000105550ENST00000222157p.P152Pc.456A>GSubstitution - coding silent
EMP3ENSG00000142227ENST00000270221p.?c.182-7A>GUnknown
CYTH2ENSG00000105443ENST00000452733p.G105Gc.315G>ASubstitution - coding silent
CCDC9ENSG00000105321ENST00000221922p.?c.463-7C>TUnknown
ZNF629ENSG00000102870ENST00000262525p.T199Mc.596C>TSubstitution - Missense
MYLPFENSG00000180209ENST00000322861p.F19Lc.55T>CSubstitution - Missense
TNFRSF12AENSG00000006327ENST00000326577p.?c.334+1_335-1del81Unknown
ALDOAENSG00000149925ENST00000338110p.E50Ec.150G>ASubstitution - coding silent
KIF22ENSG00000079616ENST00000160827p.?c.394+8A>GUnknown
ENST00000295872_v68p.Q551Hc.1653G>TSubstitution - Missense
ENST00000313614p.?c.1143-4T>AUnknown
PVRL3ENSG00000177707ENST00000493615p.V259Lc.775G>CSubstitution - Missense
XM_374396.2p.V1240Vc.3720A>GSubstitution - coding silent
ZNF716ENSG00000182111ENST00000420713p.?c.263-2A>TUnknown
ZNF716ENSG00000182111ENST00000420713p.G460*c.1378G>TSubstitution - Nonsense
RNF216ENSG00000011275ENST00000389902p.Q321Qc.963A>GSubstitution - coding silent
CDKN2AENSG00000147889ENST00000498124p.G135Gc.405G>ASubstitution - coding silent
CDKN2AENSG00000147889ENST00000304494p.G135Gc.405G>ASubstitution - coding silent
SATL1ENSG00000184788ENST00000509231p.T176Tc.528A>CSubstitution - coding silent
ERCC6LENSG00000186871ENST00000334463p.S338Pc.1012T>CSubstitution - Missense
GJB1ENSG00000169562ENST00000374029p.F51Lc.151T>CSubstitution - Missense
GIPRENSG00000010310ENST00000263281p.G198Cc.592G>TSubstitution - Missense
RSPH6AENSG00000104941ENST00000221538p.V400Lc.1198G>TSubstitution - Missense
ENST00000394167p.N565Nc.1695C>TSubstitution - coding silent
FBXL13ENSG00000161040ENST00000436908p.I78Ic.234A>TSubstitution - coding silent
RELNENSG00000189056ENST00000343529p.G2974Gc.8922C>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T659Kc.1976C>ASubstitution - Missense
C1GALT1ENSG00000106392ENST00000223122p.N251Dc.751A>GSubstitution - Missense
TBL2ENSG00000106638ENST00000305632p.R360Wc.1078C>TSubstitution - Missense
AUTS2ENSG00000158321ENST00000403018p.P73Qc.218C>ASubstitution - Missense
XM_374396.2p.D978Nc.2932G>ASubstitution - Missense
XM_374396.2p.V1240Lc.3718G>TSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.V1140Vc.3420A>GSubstitution - coding silent
ROPN1ENSG00000065371ENST00000184183p.R155Pc.464G>CSubstitution - Missense
NM_053025p.R821Rc.2463G>TSubstitution - coding silent
ACKR2ENSG00000144648ENST00000442925p.L164Fc.490C>TSubstitution - Missense
ENST00000334566_v68p.R34Kc.101G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.R1210Qc.3629G>ASubstitution - Missense
NM_148674.1p.R1212Qc.3635G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.P1642Lc.4925C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.Q2078Hc.6234G>CSubstitution - Missense
SREK1ENSG00000153914ENST00000334121p.K383Mc.1148A>TSubstitution - Missense
SREK1ENSG00000153914ENST00000380918p.K267Mc.800A>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.?c.2871+7A>CUnknown
DAPK1ENSG00000196730ENST00000358077p.?c.2871+7A>CUnknown
BBS9ENSG00000122507ENST00000242067p.L239Vc.715C>GSubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.L239Vc.715C>GSubstitution - Missense
BCKDHAENSG00000248098ENST00000269980p.G435Vc.1304G>TSubstitution - Missense
LRRC34ENSG00000171757ENST00000316515p.S45Fc.134C>TSubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.S289*c.866C>ASubstitution - Nonsense
RAPGEF1ENSG00000107263ENST00000372190p.A133Ec.398C>ASubstitution - Missense
SETXENSG00000107290ENST00000224140p.L418Lc.1254C>GSubstitution - coding silent
TCERG1ENSG00000113649ENST00000296702p.M736Ic.2208G>CSubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.R57Hc.170G>ASubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.T623Kc.1868C>ASubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.A127Vc.380C>TSubstitution - Missense
NM_014866.1p.A127Vc.380C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.V294Ic.880G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.V294Ic.880G>ASubstitution - Missense
ENST00000346816p.V294Ic.880G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.?c.2999+5G>TUnknown
NRXN1ENSG00000179915ENST00000404971p.I282Mc.846A>GSubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.V279Lc.835G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.R1220Qc.3659G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.R1243Qc.3728G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R1243Qc.3728G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.L2014Ic.6040C>ASubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.S289*c.866C>ASubstitution - Nonsense
CATSPERGENSG00000099338ENST00000312265p.N387Yc.1159A>TSubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.A344Sc.1030G>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.R78Rc.234T>CSubstitution - coding silent
CCDC39ENSG00000145075ENST00000273654p.R162Rc.486T>CSubstitution - coding silent
FXR1ENSG00000114416ENST00000357559p.N300Dc.898A>GSubstitution - Missense
ENPP1ENSG00000197594ENST00000360971p.R836Gc.2506C>GSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.I58Mc.174C>GSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.L53Vc.157T>GSubstitution - Missense
GABRR1ENSG00000146276ENST00000454853p.G404Gc.1212G>ASubstitution - coding silent
SRBD1ENSG00000068784ENST00000263736p.T383Tc.1149G>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000403092p.V806Ic.2416G>ASubstitution - Missense
NM_003315.1p.?c.262-3T>CUnknown
KRT15ENSG00000171346ENST00000393976p.S408Cc.1222A>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.A1675Pc.5023G>CSubstitution - Missense
DERL1ENSG00000136986ENST00000259512p.D6Ec.18C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.Q771fs*82c.2311delCDeletion - Frameshift
CSMD3ENSG00000164796ENST00000297405p.H388Rc.1163A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.H348Rc.1043A>GSubstitution - Missense
TRMT11ENSG00000066651ENST00000334379p.P83Lc.248C>TSubstitution - Missense
ENST00000318009p.M78Ic.234G>ASubstitution - Missense
MUSKENSG00000030304ENST00000374448p.?c.486+9T>AUnknown
ALDH8A1ENSG00000118514ENST00000265605p.G149Gc.447T>CSubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.A48Tc.142G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.L2571Lc.7713G>TSubstitution - coding silent
UTYENSG00000183878ENST00000540140p.S414Sc.1242G>ASubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.R235Wc.703C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.P950Pc.2850G>ASubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.P950Pc.2850G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.?c.4126+8G>AUnknown
ERVFRD-1ENSG00000244476ENST00000472091p.L221Ic.661C>ASubstitution - Missense
GCNT2ENSG00000111846ENST00000379597p.T87Tc.261A>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.P3673Tc.11017C>ASubstitution - Missense
OOEPENSG00000203907ENST00000370359p.E93Ac.278A>CSubstitution - Missense
KHDRBS2ENSG00000112232ENST00000281156p.V253Gc.758T>GSubstitution - Missense
KHDRBS2ENSG00000112232ENST00000281156p.S181Pc.541T>CSubstitution - Missense
KHDRBS2ENSG00000112232ENST00000281156p.T95Tc.285A>TSubstitution - coding silent
SLC25A4ENSG00000151729ENST00000281456p.A125Ac.375C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.G2160Vc.6479G>TSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.T549Tc.1647A>TSubstitution - coding silent
NBASENSG00000151779ENST00000281513p.S1250Sc.3750C>TSubstitution - coding silent
DNASE1L2ENSG00000167968ENST00000320700p.R142Rc.426G>ASubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.?c.619-8C>GUnknown
RHBDL1ENSG00000103269ENST00000219551p.S202Sc.606G>ASubstitution - coding silent
AKAP8ENSG00000105127ENST00000269701p.G608Dc.1823G>ASubstitution - Missense
CASP14ENSG00000105141ENST00000427043p.V143Vc.429A>CSubstitution - coding silent
PRKCBENSG00000166501ENST00000303531p.?c.1533+10G>AUnknown
PSG3ENSG00000221826ENST00000327495p.M403Kc.1208T>ASubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.R920Qc.2759G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000335393p.T358Tc.1074G>ASubstitution - coding silent
FAM129CENSG00000167483ENST00000332386p.T358Tc.1074G>ASubstitution - coding silent
GTSF1LENSG00000124196ENST00000373003p.P140Sc.418C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.P3149Sc.9445C>TSubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.R576Sc.1726C>ASubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.I288Ic.864C>ASubstitution - coding silent
HAS3ENSG00000103044ENST00000306560p.E128Vc.383A>TSubstitution - Missense
HAS3ENSG00000103044ENST00000219322p.E128Vc.383A>TSubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.H612Rc.1835A>GSubstitution - Missense
PVRIGENSG00000213413ENST00000317271p.A165Ac.495C>TSubstitution - coding silent
PHLPP2ENSG00000040199ENST00000356272p.V120Vc.360G>TSubstitution - coding silent
ENST00000316490_v65p.P861Ac.2581C>GSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.H709Pc.2126A>CSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.H736Pc.2207A>CSubstitution - Missense
ENST00000316490_v65p.F2317Ic.6949T>ASubstitution - Missense
ENST00000316490p.F2269Ic.6805T>ASubstitution - Missense
ENST00000316490_v65p.H1566Yc.4696C>TSubstitution - Missense
ENST00000316490p.H1518Yc.4552C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.I131Vc.391A>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P826Sc.2476C>TSubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.T436Nc.1307C>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.T436Nc.1307C>ASubstitution - Missense
C7orf34ENSG00000165131ENST00000409607p.L141Hc.422T>ASubstitution - Missense
ENST00000297830p.L116Hc.347T>ASubstitution - Missense
NRCAMENSG00000091129ENST00000379028p.E1268Dc.3804G>CSubstitution - Missense
ASIC3ENSG00000213199ENST00000349064p.?c.1215-5C>GUnknown
KCNH2ENSG00000055118ENST00000262186p.T895Tc.2685G>CSubstitution - coding silent
ASIC3ENSG00000213199ENST00000357922p.?c.1215-5C>GUnknown
ENST00000326295p.T47Ac.139A>GSubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.R514Rc.1540C>ASubstitution - coding silent
NOBOXENSG00000106410ENST00000467773p.?c.845-8T>CUnknown
PCDHB13ENSG00000187372ENST00000341948p.P493Sc.1477C>TSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.G424Gc.1272G>TSubstitution - coding silent
ITKENSG00000113263ENST00000422843p.A191Tc.571G>ASubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.L299Lc.897G>CSubstitution - coding silent
MRPL22ENSG00000082515ENST00000523037p.I51Ic.153T>CSubstitution - coding silent
GPX6ENSG00000198704ENST00000361902p.Q6Kc.16C>ASubstitution - Missense
OR12D2ENSG00000168787ENST00000383555p.Y218Hc.652T>CSubstitution - Missense
HIST1H3IENSG00000182572ENST00000328488p.L101Lc.303G>ASubstitution - coding silent
GABRA6ENSG00000145863ENST00000274545p.P192Ac.574C>GSubstitution - Missense
GABRA1ENSG00000022355ENST00000393943p.E399Dc.1197G>TSubstitution - Missense
CEACAM5ENSG00000105388ENST00000221992p.I597Sc.1790T>GSubstitution - Missense
ZBTB7AENSG00000178951ENST00000322357p.P398Pc.1194G>ASubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.L303Lc.909C>ASubstitution - coding silent
F9ENSG00000101981ENST00000218099p.T186Ic.557C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.R489Hc.1466G>ASubstitution - Missense
XM_291344.4p.K913Rc.2738A>GSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.D1359Dc.4077C>TSubstitution - coding silent
ELMO1ENSG00000155849ENST00000310758p.K183Tc.548A>CSubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.?c.1962+5G>AUnknown
MAGEA3ENSG00000221867ENST00000370278p.H174Nc.520C>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000376752p.T161Tc.483G>ASubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.R964Lc.2891G>TSubstitution - Missense
SYCNENSG00000179751ENST00000318438p.R110Rc.330C>ASubstitution - coding silent
FCRLAENSG00000132185ENST00000540926p.F153Lc.459C>ASubstitution - Missense
DCAF6ENSG00000143164ENST00000367840p.R191Qc.572G>ASubstitution - Missense
FCRL3ENSG00000160856ENST00000368186p.I202Mc.606A>GSubstitution - Missense
RPTNENSG00000215853ENST00000316073p.I490Tc.1469T>CSubstitution - Missense
NBPF9ENSG00000168614ENST00000338347p.R38Hc.113G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.Q559Pc.1676A>CSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.G219Wc.655G>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.N327Nc.981C>TSubstitution - coding silent
BCCIPENSG00000107949ENST00000368759p.Q146Ec.436C>GSubstitution - Missense
CRB2ENSG00000148204ENST00000359999p.T354Tc.1062A>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.T2021Tc.6063T>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.T2021Tc.6063T>ASubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000282249p.V387Vc.1161G>TSubstitution - coding silent
HECTD2ENSG00000165338ENST00000371681p.K143Mc.428A>TSubstitution - Missense
PLAC9ENSG00000189129ENST00000372267p.D32Hc.94G>CSubstitution - Missense
OR5M8ENSG00000181371ENST00000327216p.M157Ic.471G>TSubstitution - Missense
NM_032681.1p.?c.382+3G>AUnknown
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
ENST00000314689p.T179Ac.535A>GSubstitution - Missense
OR4C6ENSG00000181903ENST00000314259p.S274Lc.821C>TSubstitution - Missense
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
OR51G2ENSG00000176893ENST00000322013p.S298Ic.893G>TSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.P542Pc.1626G>ASubstitution - coding silent
C5orf28ENSG00000151881ENST00000500337p.V195Ic.583G>ASubstitution - Missense
TTBK1ENSG00000146216ENST00000259750p.E299Dc.897G>CSubstitution - Missense
CRIP3ENSG00000146215ENST00000372569p.P89fs*27c.263_264insACInsertion - Frameshift
DAXXENSG00000204209ENST00000266000p.R306Lc.917G>TSubstitution - Missense
HLA-DMBENSG00000242574ENST00000418107p.T249Ic.746C>TSubstitution - Missense
FKBPLENSG00000204315ENST00000375156p.R281Rc.843G>TSubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.G2012Gc.6036A>CSubstitution - coding silent
ENST00000263281_v70p.G198Cc.592G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.V143Ac.428T>CSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.M1955Ic.5865G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372271p.R232Qc.695G>ASubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.L450Lc.1350G>CSubstitution - coding silent
SLC27A4ENSG00000167114ENST00000300456p.R420Hc.1259G>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.C794Cc.2382C>TSubstitution - coding silent
TLX3ENSG00000164438ENST00000296921p.P35Pc.105G>ASubstitution - coding silent
MYO3BENSG00000071909ENST00000408978p.N480Dc.1438A>GSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.C3903Gc.11707T>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.V968Vc.2904G>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.V976Lc.2926G>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.L2629Lc.7887C>ASubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.A1252Vc.3755C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.G1678Gc.5034G>CSubstitution - coding silent
KCNH7ENSG00000184611ENST00000328032p.A122Sc.364G>TSubstitution - Missense
FIGNENSG00000182263ENST00000333129p.A694Sc.2080G>TSubstitution - Missense
FIGNENSG00000182263ENST00000333129p.V83Vc.249G>ASubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.S1210Yc.3629C>ASubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S1210Tc.3628T>ASubstitution - Missense
ZFATENSG00000066827ENST00000377838p.E522*c.1564G>TSubstitution - Nonsense
KIAA0196ENSG00000164961ENST00000318410p.P216Hc.647C>ASubstitution - Missense
METTL5ENSG00000138382ENST00000392640p.K167Nc.501G>CSubstitution - Missense
CRB2ENSG00000148204ENST00000373631p.T354Tc.1062A>TSubstitution - coding silent
GSNENSG00000148180ENST00000373818p.E643*c.1927G>TSubstitution - Nonsense
CDK5RAP2ENSG00000136861ENST00000349780p.R605Qc.1814G>ASubstitution - Missense
ORM1ENSG00000229314ENST00000259396p.T127Tc.381C>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.A878Vc.2633C>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
VIPR2ENSG00000106018ENST00000262178p.I120Ic.360C>ASubstitution - coding silent
COBLL1ENSG00000082438ENST00000342193p.P372Pc.1116C>TSubstitution - coding silent
PI4KAENSG00000241973ENST00000572273p.K415Ic.1244A>TSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000454862p.P440Pc.1320G>TSubstitution - coding silent
SPATA18ENSG00000163071ENST00000295213p.R314Pc.941G>CSubstitution - Missense
NOL6ENSG00000165271ENST00000379471p.S222Nc.665G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.S276Rc.828T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.A6844Ac.20532C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.A6527Ac.19581C>ASubstitution - coding silent
TRDNENSG00000186439ENST00000542443p.I58Mc.174C>GSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.P1627Lc.4880C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.Q2068Hc.6204G>CSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.Q2063Hc.6189G>CSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.K1650Kc.4950G>ASubstitution - coding silent
TJAP1ENSG00000137221ENST00000372445p.N49Nc.147T>CSubstitution - coding silent
COL9A1ENSG00000112280ENST00000370499p.Q366*c.1096C>TSubstitution - Nonsense
USP49ENSG00000164663ENST00000394253p.T239Pc.715A>CSubstitution - Missense
HLA-DPB1ENSG00000223865ENST00000428835p.R38Lc.113G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.P1082Hc.3245C>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.T555Tc.1665G>CSubstitution - coding silent
PDZRN3ENSG00000121440ENST00000535920p.S349*c.1046C>ASubstitution - Nonsense
KIAA0226ENSG00000145016ENST00000389665p.E293Kc.877G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.?c.1965+7T>CUnknown
ABCA12ENSG00000144452ENST00000389661p.N1454fs*47c.4361delADeletion - Frameshift
UCHL5ENSG00000116750ENST00000367448p.?c.843+1_844-1del1730Unknown
UCHL5ENSG00000116750ENST00000367449p.?c.843+1_844-1del1730Unknown
APBB2ENSG00000163697ENST00000295974p.Q196Kc.586C>ASubstitution - Missense
NAP1L5ENSG00000177432ENST00000323061p.P65Sc.193C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264899p.R90Gc.268A>GSubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.N339Nc.1017C>TSubstitution - coding silent
AIFM3ENSG00000183773ENST00000335375p.E353*c.1057G>TSubstitution - Nonsense
PLCB4ENSG00000101333ENST00000378473p.I1014Sc.3041T>GSubstitution - Missense
ENST00000319751p.A288Ac.864A>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.R1009Wc.3025C>TSubstitution - Missense
ENSG00000268241ENST00000595354p.G54Sc.160G>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.P438Pc.1314C>TSubstitution - coding silent
TBC1D22AENSG00000054611ENST00000380995p.R205Rc.615A>GSubstitution - coding silent
ESYT3ENSG00000158220ENST00000389567p.R753Rc.2257C>ASubstitution - coding silent
SLC8A1ENSG00000183023ENST00000406785p.V770Ic.2308G>ASubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.V770Ic.2308G>ASubstitution - Missense
PHLPP2ENSG00000040199ENST00000360429p.V120Vc.360G>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.D710Dc.2130T>CSubstitution - coding silent
ENST00000586406p.R134Tc.401G>CSubstitution - Missense
WDR16ENSG00000166596ENST00000299764p.N599Tc.1796A>CSubstitution - Missense
SEPT4ENSG00000108387ENST00000393086p.K204Ec.610A>GSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000440804p.L35Lc.105G>TSubstitution - coding silent
FAM129CENSG00000167483ENST00000300971p.T358Tc.1074G>ASubstitution - coding silent
FBXW9ENSG00000132004ENST00000380339p.?c.549+3G>AUnknown
MAP4K4ENSG00000071054ENST00000350878p.L459Lc.1377G>ASubstitution - coding silent
MAP4K4ENSG00000071054ENST00000350198p.L479Lc.1437G>ASubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.R1262Rc.3786G>TSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.A784Tc.2350G>ASubstitution - Missense
ENST00000318130_v70p.T502Ac.1504A>GSubstitution - Missense
ENST00000318130_v70p.L156Lc.466T>CSubstitution - coding silent
BCAR3ENSG00000137936ENST00000370247p.E299Dc.897G>TSubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.V426Vc.1278G>ASubstitution - coding silent
HCRTR1ENSG00000121764ENST00000373705p.S389Sc.1167C>TSubstitution - coding silent
SRRM1ENSG00000133226ENST00000447431p.R734Tc.2201G>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.M866Ic.2598G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.S2193Sc.6579G>ASubstitution - coding silent
SNRPNENSG00000128739ENST00000444203p.R116Kc.347G>ASubstitution - Missense
CCDC175ENSG00000151838ENST00000537690p.E338Ec.1014A>GSubstitution - coding silent
CLIP1ENSG00000130779ENST00000540338p.R580Lc.1739G>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.A1079Dc.3236C>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.G1082Cc.3244G>TSubstitution - Missense
OR9G4ENSG00000172457ENST00000302957p.C112*c.336T>ASubstitution - Nonsense
ENST00000540389p.G23Vc.68G>TSubstitution - Missense
SELLENSG00000188404ENST00000236147p.D50Nc.148G>ASubstitution - Missense
RABGAP1LENSG00000152061ENST00000357444p.R116Wc.346C>TSubstitution - Missense
OR5T2ENSG00000181718ENST00000313264p.T318Tc.954C>ASubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.V476Dc.1427T>ASubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.G803Cc.2407G>TSubstitution - Missense
ZNF33AENSG00000189180ENST00000307441p.G520Ac.1559G>CSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.?c.2867-3C>TUnknown
PKDREJENSG00000130943ENST00000253255p.H1666Yc.4996C>TSubstitution - Missense
TMEM87BENSG00000153214ENST00000283206p.?c.1033-1G>AUnknown
GIGYF2ENSG00000204120ENST00000409451p.P172Ac.514C>GSubstitution - Missense
GALMENSG00000143891ENST00000272252p.R131Hc.392G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.G662fs*7c.1983delGDeletion - Frameshift
CDKN2AENSG00000147889ENST00000446177p.G135Gc.405G>ASubstitution - coding silent
IKENSG00000113141ENST00000417647p.A140Ac.420A>GSubstitution - coding silent
PCSK5ENSG00000099139ENST00000545128p.T161Tc.483G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
LCN15ENSG00000177984ENST00000316144p.A103Sc.307G>TSubstitution - Missense
NM_003319p.A6072Vc.18215C>TSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.E488*c.1462G>TSubstitution - Nonsense
TMEM130ENSG00000166448ENST00000416379p.F379Ic.1135T>ASubstitution - Missense
USB1ENSG00000103005ENST00000219281p.Q231Hc.693G>CSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1032Sc.3096T>CSubstitution - coding silent
NFKB1ENSG00000109320ENST00000226574p.L705Lc.2115G>TSubstitution - coding silent
OR1F1ENSG00000168124ENST00000304646p.K236Rc.707A>GSubstitution - Missense
JPH3ENSG00000154118ENST00000284262p.I727Mc.2181C>GSubstitution - Missense
CCDC9ENSG00000105321ENST00000221922p.?c.463-6C>TUnknown
MS4A10ENSG00000172689ENST00000308287p.C206Cc.618C>TSubstitution - coding silent
SAMD11ENSG00000187634ENST00000342066p.L318Lc.952C>TSubstitution - coding silent
ENST00000393466p.E1213Dc.3639G>TSubstitution - Missense
PIK3CDENSG00000171608ENST00000377346p.R437Cc.1309C>TSubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.L480Hc.1439T>ASubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.E338Ec.1014A>GSubstitution - coding silent
USP24ENSG00000162402ENST00000294383p.H2490Hc.7470T>CSubstitution - coding silent
GPATCH1ENSG00000076650ENST00000170564p.P813Pc.2439G>ASubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.V1150Fc.3448G>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.S686Sc.2058C>TSubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000307431p.Y964Nc.2890T>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.?c.2887-4T>GUnknown
ZNF878ENSG00000257446ENST00000547628p.T474fs*6c.1416_1417delTCDeletion - Frameshift
EDNRBENSG00000136160ENST00000377211p.D165Gc.494A>GSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.L543Lc.1629A>GSubstitution - coding silent
SLC9B1P1ENSG00000183704ENST00000331172p.F256Lc.766T>CSubstitution - Missense
UTYENSG00000183878ENST00000329134p.S417Sc.1251G>ASubstitution - coding silent
ADAM30ENSG00000134249ENST00000369400p.V158Fc.472G>TSubstitution - Missense
MKRN3ENSG00000179455ENST00000314520p.L48Mc.142C>ASubstitution - Missense
NAALADL1ENSG00000168060ENST00000358658p.R638Hc.1913G>ASubstitution - Missense
MEGF6ENSG00000162591ENST00000356575p.T799Sc.2395A>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000547776p.?c.135-2A>TUnknown
ENST00000298715p.R591Wc.1771C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.T4871Sc.14612C>GSubstitution - Missense
C1GALT1ENSG00000106392ENST00000402468p.N251Dc.751A>GSubstitution - Missense
ENST00000257665_v70p.?c.3593-3C>TUnknown
BBS9ENSG00000122507ENST00000354265p.L239Vc.715C>GSubstitution - Missense
BBS9ENSG00000122507ENST00000354265p.?c.1857+5G>AUnknown
CACNA1BENSG00000148408ENST00000277549p.A1013Vc.3038C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
ENGENSG00000106991ENST00000373203p.N266Nc.798C>TSubstitution - coding silent
ENST00000540645p.?c.380-7G>AUnknown
MUSKENSG00000030304ENST00000189978p.F672Lc.2016C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P3060Hc.9179C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P3060Pc.9180T>ASubstitution - coding silent
NR0B1ENSG00000169297ENST00000453287p.Q357Ec.1069C>GSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.R489Hc.1466G>ASubstitution - Missense
CUL4BENSG00000158290ENST00000336592p.Y594Cc.1781A>GSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.V284Ic.850G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.S1413Ic.4238G>TSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.P446Pc.1338G>TSubstitution - coding silent
SPATA18ENSG00000163071ENST00000295213p.R314Pc.941G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
YAE1D1ENSG00000241127ENST00000223273p.P127Sc.379C>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S1950Ic.5849G>TSubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.T486Ic.1457C>TSubstitution - Missense
NBPF9ENSG00000168614ENST00000440491p.R38Hc.113G>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.S277Sc.831C>ASubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.D1406Hc.4216G>CSubstitution - Missense
FRG1BENSG00000149531ENST00000278882p.G95Ac.284G>CSubstitution - Missense
TMC2ENSG00000149488ENST00000358864p.V412Ac.1235T>CSubstitution - Missense
TANGO2ENSG00000183597ENST00000434570p.D185Ac.554A>CSubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.L30Qc.89T>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.L201Lc.603C>TSubstitution - coding silent
PLB1ENSG00000163803ENST00000422425p.T543Kc.1628C>ASubstitution - Missense
TMEM39AENSG00000176142ENST00000319172p.L35Fc.105G>CSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.A1330Ec.3989C>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.?c.263-2A>TUnknown
CNTNAP4ENSG00000152910ENST00000478060p.Y892Nc.2674T>ASubstitution - Missense
CLN6ENSG00000128973ENST00000249806p.Y295*c.885C>ASubstitution - Nonsense
ATP11AENSG00000068650ENST00000375630p.A915Vc.2744C>TSubstitution - Missense
SMAD3ENSG00000166949ENST00000327367p.?c.207-10G>AUnknown
UNC79ENSG00000133958ENST00000256339p.?c.2660-9A>TUnknown
UNC79ENSG00000133958ENST00000553484p.R1547Pc.4640G>CSubstitution - Missense
XM_371254.3p.H2407Hc.7221T>CSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.?c.6877+9G>AUnknown
FBN1ENSG00000166147ENST00000316623p.R473Gc.1417C>GSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.K1366Ic.4097A>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.D1764Ec.5292T>ASubstitution - Missense
IQUBENSG00000164675ENST00000324698p.T492Sc.1475C>GSubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.G62Vc.185G>TSubstitution - Missense
ENSG00000178404ENST00000322630p.R195Rc.583C>ASubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.K810Kc.2430G>ASubstitution - coding silent
FRZBENSG00000162998ENST00000295113p.P162Pc.486T>ASubstitution - coding silent
CAMTA1ENSG00000171735ENST00000303635p.W1197*c.3590G>ASubstitution - Nonsense
BPTFENSG00000171634ENST00000306378p.D1212Nc.3634G>ASubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.Q432Lc.1295A>TSubstitution - Missense
RETENSG00000165731ENST00000355710p.D1017Ec.3051C>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.?c.1308+6T>CUnknown
EDNRBENSG00000136160ENST00000446573p.D75Gc.224A>GSubstitution - Missense
A2MENSG00000175899ENST00000318602p.?c.879+3A>GUnknown
INF2ENSG00000203485ENST00000398337p.S23Sc.69G>ASubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.?c.1012-8G>TUnknown
CHST15ENSG00000182022ENST00000346248p.L82Lc.246C>TSubstitution - coding silent
ENST00000368148p.T1473Mc.4418C>TSubstitution - Missense
ENST00000368148p.L567Pc.1700T>CSubstitution - Missense
ERMAPENSG00000164010ENST00000372514p.T138Ac.412A>GSubstitution - Missense
RABGAP1LENSG00000152061ENST00000251507p.R153Wc.457C>TSubstitution - Missense
GJA4ENSG00000187513ENST00000342280p.G168Vc.503G>TSubstitution - Missense
MAB21L1ENSG00000180660ENST00000379919p.W230Rc.688T>CSubstitution - Missense
SU_LRRK2p.?c.5969+8G>TUnknown
GNPTABENSG00000111670ENST00000299314p.I611Mc.1833A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.Q722Pc.2165A>CSubstitution - Missense
UCHL5ENSG00000116750ENST00000367455p.?c.846+1_847-1del1730Unknown
PRMT6ENSG00000198890ENST00000361318p.E71*c.211G>TSubstitution - Nonsense
MUC2ENSG00000198788ENST00000441003p.P292Pc.876C>TSubstitution - coding silent
FESENSG00000182511ENST00000328850p.?c.388-10C>TUnknown
ABL1ENSG00000097007ENST00000372348p.E546Kc.1636G>ASubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.?c.1533+10G>AUnknown
ENST00000316490_v65p.H709Pc.2126A>CSubstitution - Missense
ZNF221ENSG00000159905ENST00000251269p.H244Qc.732T>ASubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.E444*c.1330G>TSubstitution - Nonsense
IZUMO4ENSG00000099840ENST00000395307p.S171Nc.512G>ASubstitution - Missense
ZDHHC20ENSG00000180776ENST00000320220p.?c.250-5T>GUnknown
THSD7BENSG00000144229ENST00000272643p.N1164Nc.3492C>TSubstitution - coding silent
FBXO40ENSG00000163833ENST00000338040p.A230Sc.688G>TSubstitution - Missense
ENSG00000272514ENST00000369562p.?c.108+1G>TUnknown
MLXENSG00000108788ENST00000246912p.A72Sc.214G>TSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.E525Qc.1573G>CSubstitution - Missense
HLA-DPB1ENSG00000223865ENST00000418931p.R61Lc.182G>TSubstitution - Missense
ENST00000316490p.P861Ac.2581C>GSubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.D879Dc.2637T>CSubstitution - coding silent
AKR1B15ENSG00000227471ENST00000457545p.?c.318+6C>TUnknown
ENST00000251648p.R282Hc.845G>ASubstitution - Missense
KRT32ENSG00000108759ENST00000225899p.T321Tc.963G>TSubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.I1100Ic.3300T>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000325942p.R90Gc.268A>GSubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.G460*c.1378G>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000333891p.A913Ac.2739C>TSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.T1194Tc.3582C>ASubstitution - coding silent
AK5ENSG00000154027ENST00000354567p.?c.416-7A>TUnknown
MDGA2ENSG00000139915ENST00000426342p.G556Vc.1667G>TSubstitution - Missense
FAM71F1ENSG00000135248ENST00000315184p.R303Kc.908G>ASubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.R448fs*31c.1342_1343insCInsertion - Frameshift
UNC80ENSG00000144406ENST00000439458p.Q3085Qc.9255A>GSubstitution - coding silent
ENST00000310210p.P41Tc.121C>ASubstitution - Missense
ALG13ENSG00000101901ENST00000394780p.G654*c.1960G>TSubstitution - Nonsense
ADAMTS5ENSG00000154736ENST00000284987p.L301Lc.903G>TSubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.L880Lc.2638T>CSubstitution - coding silent
PRICKLE2ENSG00000163637ENST00000295902p.Y89Yc.267T>CSubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.T535Ac.1603A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Q15642Kc.46924C>ASubstitution - Missense
RAD51AP2ENSG00000214842ENST00000399080p.Q497Ec.1489C>GSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.E779Gc.2336A>GSubstitution - Missense
NAA25ENSG00000111300ENST00000261745p.?c.2538+1G>TUnknown
CCDC87ENSG00000182791ENST00000333861p.R712Kc.2135G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P1686Sc.5056C>TSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.S23Sc.69G>ASubstitution - coding silent
BCCIPENSG00000107949ENST00000278100p.Q146Ec.436C>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.S6498Sc.19494G>ASubstitution - coding silent
POGZENSG00000143442ENST00000271715p.M1186fs*16c.3556_3557insTInsertion - Frameshift
APBB1ENSG00000166313ENST00000299402p.?c.1959+7T>CUnknown
COL17A1ENSG00000065618ENST00000353479p.?c.766+10G>TUnknown
ALDH1L2ENSG00000136010ENST00000258494p.D559Ec.1677C>ASubstitution - Missense
GPR37L1ENSG00000170075ENST00000367282p.A347Dc.1040C>ASubstitution - Missense
OR2W3ENSG00000238243ENST00000360358p.L202Rc.605T>GSubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.G619Gc.1857G>TSubstitution - coding silent
ENST00000391979_v68p.H64Yc.190C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000352115p.N396Nc.1188C>TSubstitution - coding silent
MRVI1ENSG00000072952ENST00000547195p.E238Ec.714G>ASubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.V988Vc.2964G>TSubstitution - coding silent
OR2T34ENSG00000183310ENST00000328782p.L229Lc.687C>ASubstitution - coding silent
PAPPAENSG00000182752ENST00000328252p.S145Sc.435T>CSubstitution - coding silent
GSNENSG00000148180ENST00000373823p.E592*c.1774G>TSubstitution - Nonsense
MAP3K13ENSG00000073803ENST00000424227p.I523Vc.1567A>GSubstitution - Missense
TAF4BENSG00000141384ENST00000400466p.I298Ic.894C>TSubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.Y502*c.1506T>GSubstitution - Nonsense
CC2D1BENSG00000154222ENST00000438021p.?c.1790+6G>TUnknown
KIF21BENSG00000116852ENST00000422435p.S853Rc.2559C>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.R728Rc.2184C>ASubstitution - coding silent
DPYSL2ENSG00000092964ENST00000311151p.A193Tc.577G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.V143Ac.428T>CSubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.?c.1004+1G>TUnknown
IGF2RENSG00000197081ENST00000356956p.C1927Sc.5780G>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.S1713Ic.5138G>TSubstitution - Missense
SEPT4ENSG00000108387ENST00000426861p.K204Ec.610A>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.A2621Sc.7861G>TSubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.P330Rc.989C>GSubstitution - Missense
EML3ENSG00000149499ENST00000529309p.R771Rc.2313G>CSubstitution - coding silent
ENST00000595843p.Q18*c.52C>TSubstitution - Nonsense
ABL1ENSG00000097007ENST00000318560p.E527Kc.1579G>ASubstitution - Missense
CRIP3ENSG00000146215ENST00000274990p.P89fs*27c.263_264insACInsertion - Frameshift
HYDINENSG00000157423ENST00000538248p.P888Ac.2662C>GSubstitution - Missense
ENST00000402738_v70p.E38Dc.114A>TSubstitution - Missense
CR1LENSG00000197721ENST00000508064p.N148Yc.442A>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.T4118Tc.12354G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.E845Gc.2534A>GSubstitution - Missense
SKIENSG00000157933ENST00000378536p.R402Qc.1205G>ASubstitution - Missense
SU_KSR2p.P574Pc.1722G>ASubstitution - coding silent
PVRL3ENSG00000177707ENST00000485303p.V282Lc.844G>CSubstitution - Missense
CCDC64BENSG00000162069ENST00000389347p.R182Lc.545G>TSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.G1038Sc.3112G>ASubstitution - Missense
ENST00000296885p.?c.108+1G>TUnknown
ENSG00000272514ENST00000369562p.M36Ic.108G>ASubstitution - Missense
LRP2BPENSG00000109771ENST00000328559p.G148Rc.442G>CSubstitution - Missense
MUSKENSG00000030304ENST00000374448p.F666Lc.1998C>ASubstitution - Missense
MOGENSG00000204655ENST00000376917p.V215Lc.643G>TSubstitution - Missense
NOBOXENSG00000106410ENST00000223140p.?c.845-8T>CUnknown
ZYXENSG00000159840ENST00000322764p.E321*c.961G>TSubstitution - Nonsense
SLC26A3ENSG00000091138ENST00000340010p.E255Ec.765G>ASubstitution - coding silent
HIST1H2ALENSG00000198374ENST00000357320p.G3Vc.8G>TSubstitution - Missense
ENSG00000182319ENST00000330777p.G561*c.1681G>TSubstitution - Nonsense
CDK14ENSG00000058091ENST00000380050p.F80Sc.239T>CSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.E40Dc.120G>TSubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.A247Gc.740C>GSubstitution - Missense
KIF19ENSG00000196169ENST00000389916p.E384Qc.1150G>CSubstitution - Missense
STMN3ENSG00000197457ENST00000370053p.?c.20-8G>TUnknown
TTNENSG00000155657ENST00000342992p.G15580Vc.46739G>TSubstitution - Missense
ESPNLENSG00000144488ENST00000343063p.R257Lc.770G>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.K310Nc.930G>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.?c.4489-7C>AUnknown
OVOL2ENSG00000125850ENST00000278780p.?c.512-5T>CUnknown
WWOXENSG00000186153ENST00000355860p.Q43Pc.128A>CSubstitution - Missense
MBTPS1ENSG00000140943ENST00000343411p.G309Gc.927C>TSubstitution - coding silent
RCAN3ENSG00000117602ENST00000374395p.R223Lc.668G>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.G1161Vc.3482G>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.L880Lc.2638T>CSubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.Q2104Hc.6312G>CSubstitution - Missense
FAM180BENSG00000196666ENST00000356737p.R121Lc.362G>TSubstitution - Missense
CH25HENSG00000138135ENST00000371852p.S166Lc.497C>TSubstitution - Missense
ZEB1ENSG00000148516ENST00000320985p.G235Wc.703G>TSubstitution - Missense
FMO1ENSG00000010932ENST00000354841p.S70Pc.208T>CSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.R159Lc.476G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000539099p.?c.65-9G>AUnknown
PAPPA2ENSG00000116183ENST00000367662p.G888Wc.2662G>TSubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.G337Vc.1010G>TSubstitution - Missense
GANCENSG00000214013ENST00000318010p.S560Yc.1679C>ASubstitution - Missense
ENST00000373722p.V132Vc.396G>TSubstitution - coding silent
HFM1ENSG00000162669ENST00000370425p.N462Nc.1386T>CSubstitution - coding silent
PADI2ENSG00000117115ENST00000375486p.G648Gc.1944C>TSubstitution - coding silent
VWA2ENSG00000165816ENST00000392982p.R591Wc.1771C>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S1210Yc.3629C>ASubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.S89*c.266C>GSubstitution - Nonsense
PIK3CDENSG00000171608ENST00000536656p.R402Cc.1204C>TSubstitution - Missense
CC2D1BENSG00000154222ENST00000438831p.?c.573+6G>TUnknown
COL11A1ENSG00000060718ENST00000370096p.?c.2044-1G>TUnknown
FAM78AENSG00000126882ENST00000464831p.R201Qc.602G>ASubstitution - Missense
ENST00000544512p.S691Fc.2072C>TSubstitution - Missense
SOBPENSG00000112320ENST00000317357p.H545Nc.1633C>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.Q366*c.1096C>TSubstitution - Nonsense
LAMA1ENSG00000101680ENST00000389658p.H2205Yc.6613C>TSubstitution - Missense
CD96ENSG00000153283ENST00000283285p.F239Fc.717C>TSubstitution - coding silent
FLT1ENSG00000102755ENST00000541932p.R159Lc.476G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000541932p.?c.65-9G>AUnknown
WDR64ENSG00000162843ENST00000366552p.P714Sc.2140C>TSubstitution - Missense
ALDH3B2ENSG00000132746ENST00000530069p.Y332*c.996C>ASubstitution - Nonsense
ALPK3ENSG00000136383ENST00000258888p.E929Dc.2787G>CSubstitution - Missense
DKK1ENSG00000107984ENST00000373970p.?c.548-4G>TUnknown
YLPM1ENSG00000119596ENST00000325680p.V618Vc.1854C>GSubstitution - coding silent
OR8K1ENSG00000150261ENST00000279783p.F174Lc.522C>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000536985p.L23Lc.69C>ASubstitution - coding silent
HSPA5ENSG00000044574ENST00000324460p.?c.997-5T>CUnknown
ZNF33AENSG00000189180ENST00000432900p.G527Ac.1580G>CSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.V476Dc.1427T>ASubstitution - Missense
ENST00000318560_v70p.E527Kc.1579G>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.R56Lc.167G>TSubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.C343Yc.1028G>ASubstitution - Missense
ZNF638ENSG00000075292ENST00000377802p.S585Fc.1754C>TSubstitution - Missense
AP1G1ENSG00000166747ENST00000433195p.P637Lc.1910C>TSubstitution - Missense
DUPD1ENSG00000188716ENST00000338487p.P36Sc.106C>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.P212Pc.636C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.P4033Pc.12099C>ASubstitution - coding silent
UGT2B7ENSG00000171234ENST00000305231p.R477Wc.1429C>TSubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.R630Rc.1888C>ASubstitution - coding silent
FCHO1ENSG00000130475ENST00000252771p.?c.1351+9G>AUnknown
ZC4H2ENSG00000126970ENST00000447788p.E100Kc.298G>ASubstitution - Missense
ZNF429ENSG00000197013ENST00000358491p.S470Cc.1408A>TSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.?c.3249+8C>TUnknown
NRXN1ENSG00000179915ENST00000404971p.I282Mc.846A>GSubstitution - Missense
ENST00000304105p.S89Rc.267C>ASubstitution - Missense
KCNJ3ENSG00000162989ENST00000295101p.S379Nc.1136G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.G1678Gc.5034G>CSubstitution - coding silent
ENST00000356127p.G26992Sc.80974G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.C700*c.2100C>ASubstitution - Nonsense
RBKSENSG00000171174ENST00000302188p.Y84Cc.251A>GSubstitution - Missense
PLB1ENSG00000163803ENST00000422425p.E378Dc.1134A>TSubstitution - Missense
ZNF778ENSG00000170100ENST00000306502p.G609Rc.1825G>ASubstitution - Missense
SIGLEC12ENSG00000254521ENST00000291707p.V16Vc.48G>CSubstitution - coding silent
USP42ENSG00000106346ENST00000306177p.V1140Lc.3418G>TSubstitution - Missense
MLXIPLENSG00000009950ENST00000313375p.A605Gc.1814C>GSubstitution - Missense
KIAA1841ENSG00000162929ENST00000295031p.G685Cc.2053G>TSubstitution - Missense
ENST00000334566p.R34Kc.101G>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.P230Pc.690G>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E5010*c.15028G>TSubstitution - Nonsense
RPRD2ENSG00000163125ENST00000369068p.K412Kc.1236G>ASubstitution - coding silent
OR14C36ENSG00000177174ENST00000317861p.N3fs*5c.7delADeletion - Frameshift
RPLP1ENSG00000137818ENST00000260379p.I28Ic.84C>TSubstitution - coding silent
SERPINA12ENSG00000165953ENST00000556881p.V409Ac.1226T>CSubstitution - Missense
DUOXA2ENSG00000140274ENST00000323030p.R50Gc.148C>GSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.A44Sc.130G>TSubstitution - Missense
MCOLN1ENSG00000090674ENST00000264079p.P272Rc.815C>GSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.P867Pc.2601C>ASubstitution - coding silent
ALG13ENSG00000101901ENST00000251943p.?c.438+2T>CUnknown
CLEC4GENSG00000182566ENST00000328853p.?c.478+6C>TUnknown
ELTD1ENSG00000162618ENST00000370742p.P88Pc.264T>CSubstitution - coding silent
ZNF791ENSG00000173875ENST00000343325p.?c.800_1731del932Unknown
AATKENSG00000181409ENST00000326724p.G1016Gc.3048C>ASubstitution - coding silent
C17orf82ENSG00000187013ENST00000335108p.G247Gc.741G>TSubstitution - coding silent
DCAF6ENSG00000143164ENST00000367843p.R191Qc.572G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.N1971Kc.5913C>ASubstitution - Missense
ENST00000356737_v68p.R121Lc.362G>TSubstitution - Missense
ATF6ENSG00000118217ENST00000367942p.G260Vc.779G>TSubstitution - Missense
C1orf127ENSG00000175262ENST00000377004p.P334Pc.1002G>TSubstitution - coding silent
FAM188AENSG00000148481ENST00000277632p.Y315Yc.945C>TSubstitution - coding silent
SETDB1ENSG00000143379ENST00000498193p.T492Tc.1476G>ASubstitution - coding silent
SPTBN2ENSG00000173898ENST00000529997p.A1223Sc.3667G>TSubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.K566Nc.1698A>TSubstitution - Missense
THEM5ENSG00000196407ENST00000368817p.A21Tc.61G>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000371037p.V422Vc.1266G>ASubstitution - coding silent
OR2T27ENSG00000187701ENST00000344889p.A29Ac.87C>GSubstitution - coding silent
CLN6ENSG00000128973ENST00000249806p.Y295Hc.883T>CSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.P967Pc.2901G>ASubstitution - coding silent
DHX16ENSG00000204560ENST00000376437p.Q175Hc.525G>TSubstitution - Missense
NDRG4ENSG00000103034ENST00000563799p.T236Mc.707C>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.L981Lc.2943G>ASubstitution - coding silent
DIS3ENSG00000083520ENST00000377767p.R689Lc.2066G>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.A1048Dc.3143C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.D1802Yc.5404G>TSubstitution - Missense
STON1-GTF2A1LENSG00000068781ENST00000394754p.P901Pc.2703C>ASubstitution - coding silent
MYO7AENSG00000137474ENST00000409709p.A771Ac.2313C>ASubstitution - coding silent
CDHR1ENSG00000148600ENST00000372117p.L92Qc.275T>ASubstitution - Missense
SNRPNENSG00000128739ENST00000400100p.R112Kc.335G>ASubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.T147fs*25c.437_438insAInsertion - Frameshift
COL12A1ENSG00000111799ENST00000322507p.E38Ac.113A>CSubstitution - Missense
ENST00000296885p.M36Ic.108G>ASubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.L817Lc.2451C>TSubstitution - coding silent
MPOENSG00000005381ENST00000225275p.R425Qc.1274G>ASubstitution - Missense
STON1-GTF2A1LENSG00000068781ENST00000394754p.V677Ac.2030T>CSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.G722Dc.2165G>ASubstitution - Missense
RABGAP1LENSG00000152061ENST00000457696p.R153Wc.457C>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.L23Vc.67C>GSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S1210Tc.3628T>ASubstitution - Missense
GSPT2ENSG00000189369ENST00000340438p.G453Gc.1359G>ASubstitution - coding silent
ANK1ENSG00000029534ENST00000265709p.R993Cc.2977C>TSubstitution - Missense
CPZENSG00000109625ENST00000360986p.E251Qc.751G>CSubstitution - Missense
SNCAENSG00000145335ENST00000394986p.E104Ec.312A>GSubstitution - coding silent
PLB1ENSG00000163803ENST00000327757p.T554Kc.1661C>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.G653Wc.1957G>TSubstitution - Missense
KBTBD12ENSG00000187715ENST00000405256p.L197Fc.591A>TSubstitution - Missense
C7orf62ENSG00000164645ENST00000297203p.L46Lc.138T>CSubstitution - coding silent
ADGBENSG00000118492ENST00000367493p.A350Dc.1049C>ASubstitution - Missense
KRT19ENSG00000171345ENST00000361566p.K398Ec.1192A>GSubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.P73Lc.218C>TSubstitution - Missense
MTBPENSG00000172167ENST00000305949p.S427*c.1280C>GSubstitution - Nonsense
DNMT1ENSG00000130816ENST00000340748p.N126Hc.376A>CSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.S942Lc.2825C>TSubstitution - Missense
ZC4H2ENSG00000126970ENST00000374839p.E100Kc.298G>ASubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.S808Sc.2424C>ASubstitution - coding silent
ABHD14AENSG00000248487ENST00000273596p.R155Wc.463C>TSubstitution - Missense
KIAA1239ENSG00000174145ENST00000309447p.L1519Fc.4555C>TSubstitution - Missense
KCTD8ENSG00000183783ENST00000360029p.A32Sc.94G>TSubstitution - Missense
FDCSPENSG00000181617ENST00000317987p.V43Vc.129G>CSubstitution - coding silent
C17orf70ENSG00000185504ENST00000327787p.P392Ac.1174C>GSubstitution - Missense
NEFHENSG00000100285ENST00000310624p.K749Kc.2247G>ASubstitution - coding silent
OR1F1ENSG00000168124ENST00000304646p.L184Lc.552A>GSubstitution - coding silent
ACSF3ENSG00000176715ENST00000317447p.?c.1127-5T>CUnknown
ZNF337ENSG00000130684ENST00000376436p.S501Sc.1503C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A6197Vc.18590C>TSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.V2469Lc.7405G>TSubstitution - Missense
ZNF638ENSG00000075292ENST00000264447p.S585Fc.1754C>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.G1886Vc.5657G>TSubstitution - Missense
VIMPENSG00000131871ENST00000398226p.G172Rc.514G>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.G556Vc.1667G>TSubstitution - Missense
CUL4BENSG00000158290ENST00000404115p.Y607Cc.1820A>GSubstitution - Missense
PHOSPHO1ENSG00000173868ENST00000310544p.G113Cc.337G>TSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.R20Sc.60A>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.Y55Cc.164A>GSubstitution - Missense
VCLENSG00000035403ENST00000211998p.L849Ic.2545C>ASubstitution - Missense
HTR7ENSG00000148680ENST00000336152p.R433Sc.1299G>CSubstitution - Missense
GOLGA6AENSG00000159289ENST00000290438p.Q486Pc.1457A>CSubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.Q432Lc.1295A>TSubstitution - Missense
FAM19A1ENSG00000183662ENST00000478136p.C107Yc.320G>ASubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.I146Vc.436A>GSubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.P479Tc.1435C>ASubstitution - Missense
WEE2ENSG00000214102ENST00000397541p.I378Vc.1132A>GSubstitution - Missense
APBB2ENSG00000163697ENST00000513140p.Q196Kc.586C>ASubstitution - Missense
MTMR10ENSG00000166912ENST00000435680p.I752fs*5c.2255_2260TTTTAG>CCComplex - frameshift
MYBPC1ENSG00000196091ENST00000361466p.?c.2356+1G>CUnknown
OR5B21ENSG00000198283ENST00000360374p.M116Lc.346A>CSubstitution - Missense
EDEM3ENSG00000116406ENST00000318130p.T459Ac.1375A>GSubstitution - Missense
ACSM5ENSG00000183549ENST00000331849p.A443Sc.1327G>TSubstitution - Missense
CRAMP1LENSG00000007545ENST00000397412p.V1011Mc.3031G>ASubstitution - Missense
CSTF2TENSG00000177613ENST00000331173p.P137Pc.411G>ASubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.P2835Pc.8505A>GSubstitution - coding silent
ENST00000356127p.A7279Ac.21837C>TSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.S781Lc.2342C>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000405089p.E371*c.1111G>TSubstitution - Nonsense
NDRG4ENSG00000103034ENST00000570248p.T218Mc.653C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.2080-1G>TUnknown
ALPK3ENSG00000136383ENST00000258888p.E929Dc.2787G>CSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.P399Ac.1195C>GSubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.P663Sc.1987C>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.?c.619-8C>GUnknown
RIF1ENSG00000080345ENST00000444746p.D495Yc.1483G>TSubstitution - Missense
ZNF45ENSG00000124459ENST00000269973p.T88Tc.264T>CSubstitution - coding silent
YAE1D1ENSG00000241127ENST00000223273p.V130Fc.388G>TSubstitution - Missense
LZTR1ENSG00000099949ENST00000215739p.P117Pc.351C>TSubstitution - coding silent
OR4C16ENSG00000181935ENST00000314634p.F10Lc.30C>ASubstitution - Missense
OR5D14ENSG00000186113ENST00000335605p.L117Lc.351G>TSubstitution - coding silent
APLNRENSG00000134817ENST00000257254p.Y182Yc.546C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000377315p.N372Nc.1116C>TSubstitution - coding silent
HBBENSG00000244734ENST00000335295p.D74Gc.221A>GSubstitution - Missense
OR51F1ENSG00000188069ENST00000380383p.D192Ec.576T>ASubstitution - Missense
NM_138995p.N480Dc.1438A>GSubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.L261Lc.783G>ASubstitution - coding silent
CATSPERDENSG00000174898ENST00000381624p.G250fs*11c.742_743insCInsertion - Frameshift
NLRP4ENSG00000160505ENST00000301295p.L276Lc.828C>TSubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.I139Vc.415A>GSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.S2147*c.6440C>GSubstitution - Nonsense
ZGPATENSG00000197114ENST00000328969p.Q219Lc.656A>TSubstitution - Missense
NM_007027.2p.K1239Tc.3716A>CSubstitution - Missense
KBTBD12ENSG00000187715ENST00000405109p.L197Fc.591A>TSubstitution - Missense
STON1ENSG00000243244ENST00000309835p.V677Ac.2030T>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.A25Ac.75C>TSubstitution - coding silent
PCDH11YENSG00000099715ENST00000333703p.V706Gc.2117T>GSubstitution - Missense
ZNF682ENSG00000197124ENST00000397165p.R473fs*11c.1419_1420delAGDeletion - Frameshift
MDM4ENSG00000198625ENST00000367182p.?c.412-10C>GUnknown
MTG2ENSG00000101181ENST00000370823p.Q273Pc.818A>CSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.T865Rc.2594C>GSubstitution - Missense
ENST00000428290_v65p.S914*c.2741C>GSubstitution - Nonsense
NUTM2GENSG00000188152ENST00000372322p.P526Lc.1577C>TSubstitution - Missense
HIST1H3BENSG00000124693ENST00000244661p.R73Lc.218G>TSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.?c.6353+1G>AUnknown
GBE1ENSG00000114480ENST00000429644p.R565Lc.1694G>TSubstitution - Missense
SLMO2ENSG00000101166ENST00000355937p.P114Pc.342A>CSubstitution - coding silent
NUDT16L1ENSG00000168101ENST00000405142p.H100Hc.300C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.P3105Pc.9315T>ASubstitution - coding silent
ENST00000567107_v68p.?c.650+9G>TUnknown
GOLGA6L2ENSG00000174450ENST00000567107p.?c.650+9G>TUnknown
FMO6PENSG00000117507ENST00000236166p.?c.1183+5G>TUnknown
CSMD2ENSG00000121904ENST00000241312p.T799Tc.2397C>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.P1518Pc.4554T>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.Q625Pc.1874A>CSubstitution - Missense
METTL15ENSG00000169519ENST00000303459p.K137Nc.411A>TSubstitution - Missense
OR14I1ENSG00000189181ENST00000342623p.G27Rc.79G>ASubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.A915Vc.2744C>TSubstitution - Missense
C14orf105ENSG00000100557ENST00000216445p.G241Cc.721G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.G1687Vc.5060G>TSubstitution - Missense
ENST00000298047_v61p.D1764Ec.5292T>ASubstitution - Missense
ENSG00000178404ENST00000322630p.P194Pc.582C>ASubstitution - coding silent
NM_003319p.R2494Hc.7481G>ASubstitution - Missense
HOXB3ENSG00000120093ENST00000311626p.L142Vc.424C>GSubstitution - Missense
FAM114A1ENSG00000197712ENST00000358869p.G125Gc.375A>GSubstitution - coding silent
ZNF709ENSG00000242852ENST00000397732p.R296Rc.888A>TSubstitution - coding silent
CCDC159ENSG00000183401ENST00000458408p.P270Pc.810C>ASubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.D1569Dc.4707C>TSubstitution - coding silent
GLYATL1ENSG00000166840ENST00000300079p.L172Ic.514C>ASubstitution - Missense
TUT1ENSG00000149016ENST00000308436p.W18Cc.54G>TSubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.R1481Rc.4443G>ASubstitution - coding silent
CHRM1ENSG00000168539ENST00000306960p.K447Rc.1340A>GSubstitution - Missense
MPZL1ENSG00000197965ENST00000359523p.S108Gc.322A>GSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.L153Fc.459G>CSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
FCRLAENSG00000132185ENST00000367959p.F170Lc.510C>ASubstitution - Missense
NRAPENSG00000197893ENST00000359988p.Q840Ec.2518C>GSubstitution - Missense
IQCKENSG00000174628ENST00000320394p.R204Rc.612G>TSubstitution - coding silent
NDUFB10ENSG00000140990ENST00000268668p.A82Ac.246C>TSubstitution - coding silent
KCNH7ENSG00000184611ENST00000332142p.A122Sc.364G>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.?c.1190-7C>AUnknown
USH2AENSG00000042781ENST00000366943p.V2397Vc.7191G>CSubstitution - coding silent
SEMA4BENSG00000185033ENST00000379122p.V202Vc.606C>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.E4172*c.12514G>TSubstitution - Nonsense
UBR4ENSG00000127481ENST00000375267p.S314Sc.942T>CSubstitution - coding silent
OR4C46ENSG00000185926ENST00000328188p.A140Sc.418G>TSubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.G171Sc.511G>ASubstitution - Missense
GSNENSG00000148180ENST00000436847p.E603*c.1807G>TSubstitution - Nonsense
MAST4ENSG00000069020ENST00000403666p.P1632Lc.4895C>TSubstitution - Missense
PPM1MENSG00000164088ENST00000457351p.T383Tc.1149T>ASubstitution - coding silent
OR10D3ENSG00000197309ENST00000318666p.G64fs*13c.189delGDeletion - Frameshift
USH2AENSG00000042781ENST00000307340p.V2397Vc.7191G>CSubstitution - coding silent
ENST00000327087_v68p.D932Yc.2794G>TSubstitution - Missense
GJD4ENSG00000177291ENST00000321660p.L196Lc.588G>ASubstitution - coding silent
PFKPENSG00000067057ENST00000381125p.M202Ic.606G>ASubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.K582Kc.1746A>GSubstitution - coding silent
CNTN2ENSG00000184144ENST00000331830p.R1016Cc.3046C>TSubstitution - Missense
CCDC146ENSG00000135205ENST00000285871p.K19Kc.57G>ASubstitution - coding silent
CDCA7LENSG00000164649ENST00000406877p.A85Vc.254C>TSubstitution - Missense
CD180ENSG00000134061ENST00000256447p.E418Qc.1252G>CSubstitution - Missense
SSBP4ENSG00000130511ENST00000270061p.G217Sc.649G>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.?c.1190-7C>AUnknown
BBS9ENSG00000122507ENST00000242067p.?c.1962+5G>AUnknown
CCDC39ENSG00000145075ENST00000273654p.K578Ic.1733A>TSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.A1252Vc.3755C>TSubstitution - Missense
NM_015461.1p.G780Gc.2340G>TSubstitution - coding silent
ANKS3ENSG00000168096ENST00000304283p.A501Tc.1501G>ASubstitution - Missense
POTECENSG00000183206ENST00000358970p.V135Vc.405C>ASubstitution - coding silent
PLCH1ENSG00000114805ENST00000334686p.P1249Pc.3747A>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.E3029Dc.9087G>TSubstitution - Missense
SLC5A7ENSG00000115665ENST00000264047p.?c.895+2T>AUnknown
USP42ENSG00000106346ENST00000306177p.D878Nc.2632G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A967Ac.2901C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.T489Tc.1467T>ASubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.E2586Gc.7757A>GSubstitution - Missense
NUTM2GENSG00000188152ENST00000372322p.Q547Hc.1641G>TSubstitution - Missense
PHOSPHO1ENSG00000173868ENST00000413580p.G138Cc.412G>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.G349Gc.1047A>CSubstitution - coding silent
FBXW9ENSG00000132004ENST00000393261p.?c.549+3G>AUnknown
SCN4AENSG00000007314ENST00000435607p.N1518Kc.4554C>ASubstitution - Missense
ACOXLENSG00000153093ENST00000389811p.V476Mc.1426G>ASubstitution - Missense
NM_032738.3p.F147Lc.441C>ASubstitution - Missense
CHMLENSG00000203668ENST00000366553p.E444Ec.1332A>GSubstitution - coding silent
PDILTENSG00000169340ENST00000302451p.L268Mc.802C>ASubstitution - Missense
CXCR5ENSG00000160683ENST00000292174p.G65Cc.193G>TSubstitution - Missense
XCL1ENSG00000143184ENST00000367818p.D85Hc.253G>CSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.Q863Ec.2587C>GSubstitution - Missense
ENST00000294347p.L146Pc.437T>CSubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.Y1139Hc.3415T>CSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.G1003Gc.3009G>TSubstitution - coding silent
NUTM2FENSG00000130950ENST00000253262p.Q562Hc.1686G>TSubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.G146Cc.436G>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.V143Ac.428T>CSubstitution - Missense
SETXENSG00000107290ENST00000372169p.L418Lc.1254C>GSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
UTRNENSG00000152818ENST00000367526p.S737Pc.2209T>CSubstitution - Missense
KIF6ENSG00000164627ENST00000541946p.S232Lc.695C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.1344+6T>CUnknown
ENST00000378986p.K35Mc.104A>TSubstitution - Missense
POU2F2ENSG00000028277ENST00000389341p.L17Mc.49C>ASubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.N284Nc.852C>TSubstitution - coding silent
ENST00000356567p.Q4Rc.11A>GSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.P440Hc.1319C>ASubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.?c.3348+1delgUnknown
MICBENSG00000204516ENST00000252229p.Q274Ec.820C>GSubstitution - Missense
ENST00000316490_v65p.G2255Gc.6765C>TSubstitution - coding silent
ENST00000319379p.P3094Sc.9280C>TSubstitution - Missense
SLC36A3ENSG00000186334ENST00000335230p.M307Tc.920T>CSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.G655Gc.1965T>ASubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.I523Vc.1567A>GSubstitution - Missense
BCL6ENSG00000113916ENST00000406870p.L20Lc.60C>GSubstitution - coding silent
RHBDL1ENSG00000103269ENST00000352681p.S137Sc.411G>ASubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.K1377Ic.4130A>TSubstitution - Missense
AGLENSG00000162688ENST00000361522p.P825Pc.2475A>TSubstitution - coding silent
NDUFV2ENSG00000178127ENST00000318388p.F39Cc.116T>GSubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.T219Tc.657T>ASubstitution - coding silent
ARMC2ENSG00000118690ENST00000392644p.F700Fc.2100C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.Q2257Hc.6771G>CSubstitution - Missense
NELFBENSG00000188986ENST00000343053p.R419Cc.1255C>TSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.L1801Vc.5401C>GSubstitution - Missense
ENPP1ENSG00000197594ENST00000360971p.I720Tc.2159T>CSubstitution - Missense
C9orf96ENSG00000198870ENST00000371957p.?c.1081+4G>TUnknown
PCSK5ENSG00000099139ENST00000376767p.T161Tc.483G>ASubstitution - coding silent
C17orf53ENSG00000125319ENST00000319977p.G149Sc.445G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.G2160Vc.6479G>TSubstitution - Missense
NM_058004.1p.K415Ic.1244A>TSubstitution - Missense
PSMG3ENSG00000157778ENST00000288607p.A98Gc.293C>GSubstitution - Missense
SFRP4ENSG00000106483ENST00000436072p.V7Lc.19G>TSubstitution - Missense
MVDENSG00000167508ENST00000301012p.?c.404-4G>AUnknown
FASTKD5ENSG00000215251ENST00000380266p.T83Ic.248C>TSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.S726Sc.2178T>CSubstitution - coding silent
SLCO6A1ENSG00000205359ENST00000379807p.A615Ac.1845C>TSubstitution - coding silent
KIAA0226ENSG00000145016ENST00000273582p.E233Kc.697G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.?c.7252+8A>TUnknown
ADH7ENSG00000196344ENST00000476959p.I97Nc.290T>ASubstitution - Missense
ENST00000405167p.T5259Mc.15776C>TSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.P73Qc.218C>ASubstitution - Missense
FZD9ENSG00000188763ENST00000344575p.A236Ac.708C>GSubstitution - coding silent
ACTL6BENSG00000077080ENST00000160382p.L44Lc.132G>TSubstitution - coding silent
ZNF764ENSG00000169951ENST00000252797p.P367Pc.1101C>TSubstitution - coding silent
KLHL30ENSG00000168427ENST00000409223p.A111Vc.332C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.P1023Hc.3068C>ASubstitution - Missense
CHST12ENSG00000136213ENST00000258711p.L13Lc.39G>TSubstitution - coding silent
SPATA8ENSG00000185594ENST00000328504p.P101Pc.303A>TSubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.S3182Pc.9544T>CSubstitution - Missense
SYTL3ENSG00000164674ENST00000360448p.C275Yc.824G>ASubstitution - Missense
TTC21AENSG00000168026ENST00000431162p.G586Gc.1758A>GSubstitution - coding silent
ZIM3ENSG00000141946ENST00000269834p.Q23fs*3c.69_71GCG>CTComplex - frameshift
MAST4ENSG00000069020ENST00000403625p.P1821Lc.5462C>TSubstitution - Missense
ARMC8ENSG00000114098ENST00000358441p.G355*c.1063G>TSubstitution - Nonsense
DMRTA1ENSG00000176399ENST00000325870p.S265Tc.793T>ASubstitution - Missense
SPICE1ENSG00000163611ENST00000295872p.Q551Hc.1653G>TSubstitution - Missense
TBC1D22AENSG00000054611ENST00000337137p.R252Rc.756A>GSubstitution - coding silent
RFTN1ENSG00000131378ENST00000334133p.N182Kc.546C>ASubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.P292Pc.876C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.R1348Pc.4043G>CSubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.D427Hc.1279G>CSubstitution - Missense
ENST00000356127p.P4033Pc.12099C>ASubstitution - coding silent
TBCDENSG00000141556ENST00000397466p.L283Mc.847C>ASubstitution - Missense
GPR37ENSG00000170775ENST00000303921p.D55Yc.163G>TSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.T865Rc.2594C>GSubstitution - Missense
RASSF2ENSG00000101265ENST00000379400p.V225Lc.673G>TSubstitution - Missense
CD33ENSG00000105383ENST00000262262p.T226Tc.678C>TSubstitution - coding silent
SNED1ENSG00000162804ENST00000310397p.V192Ec.575T>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1674Fc.5021C>TSubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372195p.A132Ec.395C>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.P950Pc.2850G>ASubstitution - coding silent
CHST15ENSG00000182022ENST00000421115p.L82Lc.246C>TSubstitution - coding silent
OR10S1ENSG00000196248ENST00000531945p.L128Qc.383T>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.W1607*c.4820G>ASubstitution - Nonsense
KSR2ENSG00000171435ENST00000302438p.P239Pc.717G>ASubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.A165Ac.495C>TSubstitution - coding silent
IRF9ENSG00000213928ENST00000396864p.E255Ec.765G>ASubstitution - coding silent
DNAJC7ENSG00000168259ENST00000457167p.?c.292-3T>CUnknown
LRATENSG00000121207ENST00000336356p.D179Ec.537C>ASubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.K250Mc.749A>TSubstitution - Missense
ZNF483ENSG00000173258ENST00000309235p.H541Qc.1623T>ASubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.W736Sc.2207G>CSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.?c.4141+8G>AUnknown
CABIN1ENSG00000099991ENST00000398319p.V817Vc.2451G>ASubstitution - coding silent
FIGNL1ENSG00000132436ENST00000395556p.V75Ic.223G>ASubstitution - Missense
DTNAENSG00000134769ENST00000269191p.M286Ic.858G>ASubstitution - Missense
MALRD1ENSG00000204740ENST00000455457p.A184Tc.550G>ASubstitution - Missense
FAM184BENSG00000047662ENST00000265018p.R912Cc.2734C>TSubstitution - Missense
PLB1ENSG00000163803ENST00000329020p.T242Kc.725C>ASubstitution - Missense
IFT172ENSG00000138002ENST00000416524p.Q90Lc.269A>TSubstitution - Missense
AP1G1ENSG00000166747ENST00000423132p.P617Lc.1850C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
ENST00000328380p.P380Tc.1138C>ASubstitution - Missense
SLC35F5ENSG00000115084ENST00000245680p.S18Sc.54T>GSubstitution - coding silent
FIGFENSG00000165197ENST00000297904p.?c.939-4A>GUnknown
SH3BP4ENSG00000130147ENST00000344528p.G102Dc.305G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.I2316Ic.6948C>TSubstitution - coding silent
FBLN2ENSG00000163520ENST00000404922p.G457Sc.1369G>ASubstitution - Missense
TOMM40ENSG00000130204ENST00000252487p.G316Vc.947G>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.V3058Vc.9174G>ASubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.R372Sc.1114C>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.N339Nc.1017C>TSubstitution - coding silent
CATSPERGENSG00000099338ENST00000409235p.N747Yc.2239A>TSubstitution - Missense
SRRM1ENSG00000133226ENST00000323848p.R722Tc.2165G>CSubstitution - Missense
NUP93ENSG00000102900ENST00000308159p.R578Pc.1733G>CSubstitution - Missense
TXNDC17ENSG00000129235ENST00000250101p.D83Dc.249C>TSubstitution - coding silent
ZCCHC14ENSG00000140948ENST00000268616p.S243Sc.729C>TSubstitution - coding silent
NM_003319p.Q15517Kc.46549C>ASubstitution - Missense
GPTENSG00000167701ENST00000528431p.S126Tc.377G>CSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.D2427Hc.7279G>CSubstitution - Missense
GABRA4ENSG00000109158ENST00000264318p.D105Yc.313G>TSubstitution - Missense
NM_025134.3p.P2635fs*26c.7901delGDeletion - Frameshift
SCN11AENSG00000168356ENST00000302328p.L1155Ic.3463C>ASubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.G1041Sc.3121G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.N1133Nc.3399C>TSubstitution - coding silent
USP49ENSG00000164663ENST00000373006p.T239Pc.715A>CSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.V1359Lc.4075G>TSubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.P241Ac.721C>GSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.T474fs*6c.1416_1417delTCDeletion - Frameshift
GPX4ENSG00000167468ENST00000354171p.K75Kc.225G>ASubstitution - coding silent
PDP1ENSG00000164951ENST00000297598p.T309Tc.927G>TSubstitution - coding silent
NOL6ENSG00000165271ENST00000297990p.S222Nc.665G>ASubstitution - Missense
EDEM2ENSG00000088298ENST00000374492p.?c.108-5C>AUnknown
TANGO2ENSG00000183597ENST00000327374p.D144Ac.431A>CSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.E334Kc.1000G>ASubstitution - Missense
ENST00000400522_v68p.D64Ec.192C>GSubstitution - Missense
CCDC42ENSG00000161973ENST00000293845p.R68Rc.202A>CSubstitution - coding silent
RNMTENSG00000101654ENST00000383314p.Q296Lc.887A>TSubstitution - Missense
GATAD1ENSG00000157259ENST00000287957p.D200Nc.598G>ASubstitution - Missense
HLCSENSG00000159267ENST00000399120p.P529fs*48c.1582_1583insTInsertion - Frameshift
FRAS1ENSG00000138759ENST00000264895p.R90Gc.268A>GSubstitution - Missense
ADAM18ENSG00000168619ENST00000265707p.?c.189-1G>CUnknown
DMBT1ENSG00000187908ENST00000368909p.A165Vc.494C>TSubstitution - Missense
ENST00000368915p.A165Vc.494C>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.A1223Sc.3667G>TSubstitution - Missense
SYCE1ENSG00000171772ENST00000343131p.L350Ic.1048C>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.G849Gc.2547A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.S2187Sc.6561G>ASubstitution - coding silent
GNL2ENSG00000134697ENST00000373062p.R180Rc.540T>ASubstitution - coding silent
SFMBT2ENSG00000198879ENST00000361972p.R741Qc.2222G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.K1066Kc.3198G>ASubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.I224Vc.670A>GSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.S406fs*1c.1217delCDeletion - Frameshift
TOP3AENSG00000177302ENST00000321105p.R831Rc.2491C>ASubstitution - coding silent
CYP7B1ENSG00000172817ENST00000310193p.P479Lc.1436C>TSubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.G655Gc.1965T>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.W1607*c.4820G>ASubstitution - Nonsense
KIAA1107ENSG00000069712ENST00000409154p.H676Lc.2027A>TSubstitution - Missense
MN1ENSG00000169184ENST00000302326p.A1091Tc.3271G>ASubstitution - Missense
UMPSENSG00000114491ENST00000232607p.E224*c.670G>TSubstitution - Nonsense
C16orf71ENSG00000166246ENST00000299320p.R56*c.166C>TSubstitution - Nonsense
KIF6ENSG00000164627ENST00000538893p.S725Lc.2174C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.?c.2871+7A>CUnknown
SVILENSG00000197321ENST00000355867p.V311Vc.933G>ASubstitution - coding silent
TESPA1ENSG00000135426ENST00000449076p.C132Fc.395G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.?c.2999+5G>TUnknown
ZHX2ENSG00000178764ENST00000314393p.Y522Nc.1564T>ASubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.G452Ac.1355G>CSubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.?c.1023-6T>AUnknown
COL9A1ENSG00000112280ENST00000357250p.Q609*c.1825C>TSubstitution - Nonsense
PCDH11YENSG00000099715ENST00000215473p.V717Gc.2150T>GSubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.L579Fc.1735C>TSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.H435Hc.1305C>TSubstitution - coding silent
ZNF862ENSG00000106479ENST00000223210p.P105Lc.314C>TSubstitution - Missense
REPIN1ENSG00000214022ENST00000397281p.R457Rc.1369C>ASubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.S1116*c.3347C>ASubstitution - Nonsense
TRAPPC11ENSG00000168538ENST00000334690p.Q589Hc.1767G>CSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R847Lc.2540G>TSubstitution - Missense
ENST00000335106p.L272Lc.814T>CSubstitution - coding silent
AP1G1ENSG00000166747ENST00000299980p.P614Lc.1841C>TSubstitution - Missense
RAB36ENSG00000100228ENST00000263116p.V276Mc.826G>ASubstitution - Missense
WDR82ENSG00000164091ENST00000296490p.Y99Nc.295T>ASubstitution - Missense
ENST00000378381p.R463Tc.1388G>CSubstitution - Missense
PPP3CAENSG00000138814ENST00000394854p.L156Vc.466C>GSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.H1668Rc.5003A>GSubstitution - Missense
TAF1BENSG00000115750ENST00000263663p.E69Dc.207A>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
OR12D2ENSG00000168787ENST00000383555p.Y218Fc.653A>TSubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.?c.280+3G>AUnknown
CRYGSENSG00000213139ENST00000307944p.L88Vc.262C>GSubstitution - Missense
PRKCBENSG00000166501ENST00000321728p.?c.1533+10G>AUnknown
CYP4F8ENSG00000186526ENST00000325723p.R46Pc.137G>CSubstitution - Missense
TNFAIP6ENSG00000123610ENST00000243347p.D191Dc.573T>CSubstitution - coding silent
FAM129CENSG00000167483ENST00000595684p.T358Tc.1074G>ASubstitution - coding silent
ANKS1BENSG00000185046ENST00000329257p.?c.135-2A>TUnknown
ALKBH3ENSG00000166199ENST00000378840p.?c.80-1G>TUnknown
PLCH1ENSG00000114805ENST00000340059p.P1287Pc.3861A>TSubstitution - coding silent
ALPK1ENSG00000073331ENST00000458497p.G223Gc.669A>GSubstitution - coding silent
ZNF418ENSG00000196724ENST00000396147p.S158*c.473C>GSubstitution - Nonsense
UTYENSG00000183878ENST00000331397p.S417Sc.1251G>ASubstitution - coding silent
KPNA5ENSG00000196911ENST00000368564p.E140Vc.419A>TSubstitution - Missense
TBL2ENSG00000106638ENST00000305632p.A109Vc.326C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.K494Ic.1481A>TSubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.A147Ac.441C>TSubstitution - coding silent
RAB8BENSG00000166128ENST00000321437p.S112Sc.336C>TSubstitution - coding silent
CHD3ENSG00000170004ENST00000330494p.I1307Ic.3921C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.L12387Rc.37160T>GSubstitution - Missense
PDXKENSG00000160209ENST00000291565p.G122Sc.364G>ASubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.?c.1566+5G>CUnknown
KCNU1ENSG00000215262ENST00000399881p.I139Vc.415A>GSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.D293Yc.877G>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.Y242Hc.724T>CSubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.?c.1033-8C>GUnknown
SF1ENSG00000168066ENST00000377390p.S331Sc.993C>GSubstitution - coding silent
PFKFB3ENSG00000170525ENST00000379785p.L43Lc.129C>ASubstitution - coding silent
GALNT8ENSG00000130035ENST00000252318p.Q156Qc.468G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.A44Sc.130G>TSubstitution - Missense
ENST00000270720p.Q176Lc.527A>TSubstitution - Missense
UCHL5ENSG00000116750ENST00000367450p.?c.963+1_964-1del1730Unknown
F13BENSG00000143278ENST00000367412p.Y40Yc.120T>CSubstitution - coding silent
MSLNENSG00000102854ENST00000382862p.G29Rc.85G>ASubstitution - Missense
C1orf141ENSG00000203963ENST00000371007p.P268Tc.802C>ASubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.A306Pc.916G>CSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.C125*c.375C>ASubstitution - Nonsense
ENST00000414315p.V11Ac.32T>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.?c.2855+5G>TUnknown
ENST00000368148p.H1253Nc.3757C>ASubstitution - Missense
ALX4ENSG00000052850ENST00000329255p.P317Qc.950C>ASubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.L92Qc.275T>ASubstitution - Missense
SCAMP2ENSG00000140497ENST00000268099p.R87Lc.260G>TSubstitution - Missense
CUL2ENSG00000108094ENST00000374751p.I687Tc.2060T>CSubstitution - Missense
RETENSG00000165731ENST00000355710p.G387Vc.1160G>TSubstitution - Missense
MIXL1ENSG00000185155ENST00000366810p.L184Lc.552G>TSubstitution - coding silent
FLT1ENSG00000102755ENST00000539099p.R159Lc.476G>TSubstitution - Missense
OR56B4ENSG00000180919ENST00000316529p.P64Hc.191C>ASubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.L125Fc.375G>CSubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.V291Ic.871G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.?c.2879+5G>TUnknown
ENST00000398946p.E510*c.1528G>TSubstitution - Nonsense
TNXBENSG00000168477ENST00000375247p.G2099Gc.6297A>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R799Lc.2396G>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000399167p.E365*c.1093G>TSubstitution - Nonsense
NPLOC4ENSG00000182446ENST00000374747p.?c.1566+5G>CUnknown
EPB41L3ENSG00000082397ENST00000542146p.D184Dc.552T>CSubstitution - coding silent
ENST00000327733p.?c.859+3G>AUnknown
MAP3K13ENSG00000073803ENST00000535426p.I379Vc.1135A>GSubstitution - Missense
NEFHENSG00000100285ENST00000310624p.K749Ec.2245A>GSubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.H677Hc.2031C>TSubstitution - coding silent
NM_003319p.G20497Sc.61489G>ASubstitution - Missense
SMPD3ENSG00000103056ENST00000219334p.G315Gc.945G>ASubstitution - coding silent
RETENSG00000165731ENST00000340058p.D1017Ec.3051C>GSubstitution - Missense
MYL2ENSG00000111245ENST00000228841p.G11Gc.33G>ASubstitution - coding silent
MPOENSG00000005381ENST00000340482p.R457Qc.1370G>ASubstitution - Missense
SEPT4ENSG00000108387ENST00000317268p.K223Ec.667A>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.L2014Ic.6040C>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.A878Vc.2633C>TSubstitution - Missense
FGF13ENSG00000129682ENST00000315930p.K35Rc.104A>GSubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.E444*c.1330G>TSubstitution - Nonsense
AMBPENSG00000106927ENST00000265132p.?c.557-7G>AUnknown
MUC17ENSG00000169876ENST00000306151p.T912Tc.2736C>TSubstitution - coding silent
NUPL2ENSG00000136243ENST00000258742p.Q402Ec.1204C>GSubstitution - Missense
CRHR2ENSG00000106113ENST00000471646p.?c.918-8G>AUnknown
ADAMTS2ENSG00000087116ENST00000251582p.R882Cc.2644C>TSubstitution - Missense
NM_152536.2p.P325Tc.973C>ASubstitution - Missense
UTYENSG00000183878ENST00000331397p.S417Sc.1251G>ASubstitution - coding silent
TXNDC2ENSG00000168454ENST00000357775p.P107Sc.319C>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.N455Nc.1365C>TSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.S712Sc.2136C>TSubstitution - coding silent
OSGIN1ENSG00000140961ENST00000343939p.T331Tc.993G>ASubstitution - coding silent
SPAG16ENSG00000144451ENST00000331683p.L552Qc.1655T>ASubstitution - Missense
LEPRENSG00000116678ENST00000349533p.C753Sc.2258G>CSubstitution - Missense
ENST00000299644p.F357fs*9c.1062_1063insTTCTCInsertion - Frameshift
ATP8A1ENSG00000124406ENST00000264449p.A247Gc.740C>GSubstitution - Missense
TOX3ENSG00000103460ENST00000219746p.G297Rc.889G>CSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.V1450Lc.4348G>TSubstitution - Missense
DTNAENSG00000134769ENST00000269190p.M286Ic.858G>ASubstitution - Missense
ATRNENSG00000088812ENST00000262919p.C939Yc.2816G>ASubstitution - Missense
ENST00000356127p.G15580Vc.46739G>TSubstitution - Missense
NM_003319p.G9083Vc.27248G>TSubstitution - Missense
ANKRD44ENSG00000065413ENST00000424317p.G780Rc.2338G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.D2409Hc.7225G>CSubstitution - Missense
CDK14ENSG00000058091ENST00000265741p.F62Sc.185T>CSubstitution - Missense
FZD1ENSG00000157240ENST00000287934p.M134Lc.400A>TSubstitution - Missense
PPM1MENSG00000164088ENST00000409502p.T171Tc.513T>ASubstitution - coding silent
MED12LENSG00000144893ENST00000474524p.?c.4212-9T>AUnknown
CDH1ENSG00000039068ENST00000261769p.Y302Nc.904T>ASubstitution - Missense
UNC5CENSG00000182168ENST00000453304p.S529Yc.1586C>ASubstitution - Missense
LRRTM3ENSG00000198739ENST00000361320p.V132Vc.396G>TSubstitution - coding silent
CHRM1ENSG00000168539ENST00000306960p.V452Lc.1354G>TSubstitution - Missense
C12orf5ENSG00000078237ENST00000179259p.T251Mc.752C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.A44Sc.130G>TSubstitution - Missense
C6ENSG00000039537ENST00000263413p.?c.2101+3G>CUnknown
RYR3ENSG00000198838ENST00000389232p.P344Lc.1031C>TSubstitution - Missense
MNS1ENSG00000138587ENST00000260453p.A253Pc.757G>CSubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.G803Cc.2407G>TSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000250360p.L35Lc.105G>TSubstitution - coding silent
ALG13ENSG00000101901ENST00000394780p.?c.750+2T>CUnknown
SCN1AENSG00000144285ENST00000375405p.G655Gc.1965T>ASubstitution - coding silent
LPIN1ENSG00000134324ENST00000449576p.P441Ac.1321C>GSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.L2382Lc.7146A>GSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.D1790Yc.5368G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A7279Ac.21837C>TSubstitution - coding silent
NM_015057.1p.P1990Pc.5970G>CSubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.A165Vc.494C>TSubstitution - Missense
YIF1AENSG00000174851ENST00000376901p.?c.486-4G>AUnknown
ALPK3ENSG00000136383ENST00000258888p.L1440Lc.4320G>ASubstitution - coding silent
CLIP1ENSG00000130779ENST00000358808p.R569Lc.1706G>TSubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.S748Ic.2243G>TSubstitution - Missense
ANLNENSG00000011426ENST00000265748p.R761Sc.2283A>CSubstitution - Missense
ENSG00000183760ENST00000331256p.A237Ac.711C>ASubstitution - coding silent
NRCAMENSG00000091129ENST00000351718p.E1147Dc.3441G>CSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.Q656Hc.1968G>TSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.Q656Hc.1968G>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.W259Lc.776G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.V294Ic.880G>ASubstitution - Missense
PAEPENSG00000122133ENST00000371766p.P177_*181delPCRF*c.527_541del15Deletion - In frame
MYO10ENSG00000145555ENST00000274203p.K1650Kc.4950G>ASubstitution - coding silent
TNKS1BP1ENSG00000149115ENST00000358252p.R1633Wc.4897C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.G812Cc.2434G>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.Y1830Hc.5488T>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T802Kc.2405C>ASubstitution - Missense
RBKSENSG00000171174ENST00000444339p.Y84Cc.251A>GSubstitution - Missense
AP1G1ENSG00000166747ENST00000393512p.P617Lc.1850C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.A6844Ac.20532C>ASubstitution - coding silent
WASENSG00000015285ENST00000376701p.P316Lc.947C>TSubstitution - Missense
TMPRSS7ENSG00000176040ENST00000419127p.?c.1578-4T>AUnknown
ROCK2ENSG00000134318ENST00000315872p.K310Nc.930G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R1243Qc.3728G>ASubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.A147Ac.441C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.L1980Ic.5938C>ASubstitution - Missense
LEPREL4ENSG00000141696ENST00000355468p.M320Ic.960G>TSubstitution - Missense
ENST00000316490p.G2207Gc.6621C>TSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.A604Ec.1811C>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
NM_014363.3p.H3204Qc.9612C>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.G175Ac.524G>CSubstitution - Missense
PDP1ENSG00000164951ENST00000396200p.T334Tc.1002G>TSubstitution - coding silent
LMAN1ENSG00000074695ENST00000251047p.Q387*c.1159C>TSubstitution - Nonsense
ANKRD62ENSG00000181626ENST00000314074p.R120Tc.359G>CSubstitution - Missense
ZNF250ENSG00000196150ENST00000292579p.P137Pc.411A>GSubstitution - coding silent
RAD54L2ENSG00000164080ENST00000409535p.W704Lc.2111G>TSubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.E126Kc.376G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.R1491Gc.4471C>GSubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.Q111Lc.332A>TSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.A391Vc.1172C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.L2404Vc.7210C>GSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.L1440Lc.4320G>ASubstitution - coding silent
NID1ENSG00000116962ENST00000264187p.T786Sc.2356A>TSubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.E302Ec.906G>ASubstitution - coding silent
TPSAB1ENSG00000172236ENST00000338844p.L237Lc.711G>CSubstitution - coding silent
SEMA4BENSG00000185033ENST00000332496p.V207Vc.621C>ASubstitution - coding silent
ERCC4ENSG00000175595ENST00000311895p.R180Tc.539G>CSubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.T142Tc.426A>CSubstitution - coding silent
SLC22A6ENSG00000197901ENST00000377871p.G322fs*48c.960delCDeletion - Frameshift
JMJD1CENSG00000171988ENST00000399262p.H736Nc.2206C>ASubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.T486Ic.1457C>TSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.S406fs*1c.1217delCDeletion - Frameshift
MAPK6ENSG00000069956ENST00000261845p.A2Ac.6A>GSubstitution - coding silent
KIF21BENSG00000116852ENST00000332129p.S853Rc.2559C>ASubstitution - Missense
ENST00000280357_v70p.E28Kc.82G>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S1042*c.3125C>GSubstitution - Nonsense
NM_016521.2p.K154Ic.461A>TSubstitution - Missense
WNT3ENSG00000108379ENST00000225512p.W155Rc.463T>ASubstitution - Missense
FAM65BENSG00000111913ENST00000538035p.S705Sc.2115T>CSubstitution - coding silent
SEPT4ENSG00000108387ENST00000412945p.K215Ec.643A>GSubstitution - Missense
EPN3ENSG00000049283ENST00000537145p.T564Ic.1691C>TSubstitution - Missense
FRG1BENSG00000149531ENST00000439954p.G100Ac.299G>CSubstitution - Missense
ENST00000310397_v70p.V192Ec.575T>ASubstitution - Missense
PDZRN3ENSG00000121440ENST00000263666p.S627*c.1880C>ASubstitution - Nonsense
MYO5AENSG00000197535ENST00000358212p.I224Vc.670A>GSubstitution - Missense
LIMK2ENSG00000182541ENST00000340552p.K685Rc.2054A>GSubstitution - Missense
XRCC5ENSG00000079246ENST00000392133p.G63Dc.188G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372269p.R229Qc.686G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.P1023Hc.3068C>ASubstitution - Missense
URB2ENSG00000135763ENST00000258243p.H916Yc.2746C>TSubstitution - Missense
LCP1ENSG00000136167ENST00000323076p.S119*c.356C>ASubstitution - Nonsense
OBSCNENSG00000154358ENST00000570156p.H1708Rc.5123A>GSubstitution - Missense
LEPRENSG00000116678ENST00000371059p.C753Sc.2258G>CSubstitution - Missense
UBQLN3ENSG00000175520ENST00000311659p.T288Sc.862A>TSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.K1149fs*15c.3446delADeletion - Frameshift
ENGENSG00000106991ENST00000344849p.N266Nc.798C>TSubstitution - coding silent
UTYENSG00000183878ENST00000382896p.S462Sc.1386G>ASubstitution - coding silent
MUSKENSG00000030304ENST00000189978p.?c.486+9T>AUnknown
PLB1ENSG00000163803ENST00000329020p.E55Dc.165A>TSubstitution - Missense
LRRC36ENSG00000159708ENST00000563189p.S336Sc.1008A>GSubstitution - coding silent
UCHL5ENSG00000116750ENST00000530098p.?c.474+1_475-1del1730Unknown
CSMD3ENSG00000164796ENST00000343508p.Q731fs*82c.2191delCDeletion - Frameshift
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.C1664Yc.4991G>ASubstitution - Missense
TJAP1ENSG00000137221ENST00000372444p.N49Nc.147T>CSubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.P861Ac.2581C>GSubstitution - Missense
ENST00000316490p.H709Pc.2126A>CSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.D1359Dc.4077C>TSubstitution - coding silent
BMPERENSG00000164619ENST00000297161p.G548Gc.1644G>ASubstitution - coding silent
GOLGA8HENSG00000261794ENST00000566740p.Q253Hc.759G>TSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.E643Dc.1929G>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.Q1726Kc.5176C>ASubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.?c.3770-3T>CUnknown
PODXL2ENSG00000114631ENST00000342480p.L146Fc.438G>TSubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.A190Sc.568G>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.S276Rc.828T>ASubstitution - Missense
HOXA10ENSG00000253293ENST00000283921p.?c.907+9G>AUnknown
SCN5AENSG00000183873ENST00000333535p.T570Ic.1709C>TSubstitution - Missense
ARMC8ENSG00000114098ENST00000481646p.G355*c.1063G>TSubstitution - Nonsense
PGAM4ENSG00000226784ENST00000458128p.R180Hc.539G>ASubstitution - Missense
C3orf22ENSG00000180697ENST00000318225p.C6Rc.16T>CSubstitution - Missense
SLC7A14ENSG00000013293ENST00000231706p.S525Sc.1575C>TSubstitution - coding silent
CCDC155ENSG00000161609ENST00000447857p.V54Vc.162G>CSubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.S171Nc.512G>ASubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.K333Rc.998A>GSubstitution - Missense
R3HCC1ENSG00000104679ENST00000265806p.G236Rc.706G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.L267Lc.801T>CSubstitution - coding silent
POTECENSG00000183206ENST00000358970p.G229Gc.687C>ASubstitution - coding silent
CYP11B1ENSG00000160882ENST00000292427p.P77Hc.230C>ASubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.K155Ec.463A>GSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.?c.6520+5G>AUnknown
C2orf16ENSG00000221843ENST00000408964p.V91Ac.272T>CSubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.T1308Sc.3922A>TSubstitution - Missense
NM_147192.2p.F264Fc.792C>TSubstitution - coding silent
KDM5BENSG00000117139ENST00000367265p.E468*c.1402G>TSubstitution - Nonsense
RNASELENSG00000135828ENST00000367559p.A128Dc.383C>ASubstitution - Missense
ENST00000450700p.K33Nc.99G>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.S1690Lc.5069C>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.V689Lc.2065G>TSubstitution - Missense
ENST00000339740p.G151Ac.452G>CSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.P1315Pc.3945C>ASubstitution - coding silent
NRXN3ENSG00000021645ENST00000428277p.P365Pc.1095G>ASubstitution - coding silent
SERPINA1ENSG00000197249ENST00000440909p.E229Kc.685G>ASubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.V59Vc.177G>CSubstitution - coding silent
ANKRD27ENSG00000105186ENST00000306065p.?c.2008-1G>TUnknown
HOXC11ENSG00000123388ENST00000546378p.P130Tc.388C>ASubstitution - Missense
CREMENSG00000095794ENST00000395895p.S99Lc.296C>TSubstitution - Missense
GLTPENSG00000139433ENST00000318348p.T43Ic.128C>TSubstitution - Missense
RETENSG00000165731ENST00000340058p.S688Yc.2063C>ASubstitution - Missense
NDRG4ENSG00000103034ENST00000394279p.T250Mc.749C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A967Ac.2901C>TSubstitution - coding silent
LRP5ENSG00000162337ENST00000294304p.R1326Hc.3977G>ASubstitution - Missense
BCCIPENSG00000107949ENST00000299130p.Q146Ec.436C>GSubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.R393Tc.1178G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.H1708Rc.5123A>GSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.W259Lc.776G>TSubstitution - Missense


COSMIC

1 mutations reported
0 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
TP53ENSG00000141510ENST00000269305p.V143Ac.?Substitution - Missense23980093