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KNS-81-FD - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

882 mutations reported
333 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
KCNN3ENSG00000143603ENST00000361147p.Q305Qc.915G>ASubstitution - coding silent
C1orf87ENSG00000162598ENST00000371201p.F110Fc.330C>TSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.D633Nc.1897G>ASubstitution - Missense
OTTHUMT00000058153.1p.M381Ic.1143G>ASubstitution - Missense
PLEKHF1ENSG00000166289ENST00000436066p.K106Rc.317A>GSubstitution - Missense
ASB15ENSG00000146809ENST00000451558p.K75Tc.224A>CSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.G50Dc.149G>ASubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.P717Pc.2151T>CSubstitution - coding silent
ZNF267ENSG00000185947ENST00000300870p.F249Sc.746T>CSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.T214Tc.642T>GSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
CLCN1ENSG00000188037ENST00000343257p.Q754Hc.2262G>TSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.F290Fc.870C>TSubstitution - coding silent
SCN9AENSG00000169432ENST00000409672p.T1935Rc.5804C>GSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.A229Tc.685G>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.F1589Lc.4765T>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.E1350fs*7c.4048_4055delGAGCAGAGDeletion - Frameshift
GIGYF2ENSG00000204120ENST00000452341p.G412Gc.1236C>TSubstitution - coding silent
PEX5LENSG00000114757ENST00000263962p.Q606*c.1816C>TSubstitution - Nonsense
MUC12ENSG00000205277ENST00000379442p.T802Kc.2405C>ASubstitution - Missense
ENST00000372796p.R823Cc.2467C>TSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.R98*c.292C>TSubstitution - Nonsense
HHATENSG00000054392ENST00000367010p.?c.684+4G>CUnknown
MUC5BENSG00000117983ENST00000529681p.T4246Mc.12737C>TSubstitution - Missense
AP3B2ENSG00000103723ENST00000261722p.I508Ic.1524C>TSubstitution - coding silent
MAP4K2ENSG00000168067ENST00000294066p.A339Tc.1015G>ASubstitution - Missense
EME2ENSG00000197774ENST00000307394p.R367Qc.1100G>ASubstitution - Missense
RGS8ENSG00000135824ENST00000483095p.?c.128+4A>GUnknown
KDM5BENSG00000117139ENST00000367265p.D129Dc.387C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.G3316Vc.9947G>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.E67Qc.199G>CSubstitution - Missense
GRTP1ENSG00000139835ENST00000375430p.Q149Hc.447G>TSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.R1226Rc.3678G>ASubstitution - coding silent
ERICH1ENSG00000104714ENST00000262109p.K168Rc.503A>GSubstitution - Missense
SSFA2ENSG00000138434ENST00000431877p.L1047Pc.3140T>CSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.T1119Tc.3357G>ASubstitution - coding silent
APBB2ENSG00000163697ENST00000295974p.L357Lc.1069C>TSubstitution - coding silent
CNEP1R1ENSG00000205423ENST00000458059p.C24Rc.70T>CSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.A440Ac.1320G>ASubstitution - coding silent
CCDC157ENSG00000187860ENST00000338306p.P588Tc.1762C>ASubstitution - Missense
TGFBR2ENSG00000163513ENST00000359013p.Q191Qc.573A>GSubstitution - coding silent
XM_293407.3p.L113Lc.337C>TSubstitution - coding silent
ENST00000257665_v70p.P210Pc.630G>ASubstitution - coding silent
CSNK1G3ENSG00000151292ENST00000395411p.?c.1087-4G>AUnknown
SEMA4DENSG00000187764ENST00000450295p.N803Ic.2408A>TSubstitution - Missense
AHI1ENSG00000135541ENST00000367800p.Q263*c.787C>TSubstitution - Nonsense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ZNF354BENSG00000178338ENST00000322434p.L85Vc.253C>GSubstitution - Missense
TRIM64CENSG00000214891ENST00000530230p.R36Rc.108G>ASubstitution - coding silent
DCCENSG00000187323ENST00000412726p.F119Fc.357T>CSubstitution - coding silent
SETD6ENSG00000103037ENST00000310682p.Q401*c.1201C>TSubstitution - Nonsense
SCN11AENSG00000168356ENST00000302328p.P48Lc.143C>TSubstitution - Missense
ZBED6CLENSG00000188707ENST00000343855p.S184Lc.551C>TSubstitution - Missense
CD99L2ENSG00000102181ENST00000370377p.S244Cc.731C>GSubstitution - Missense
HERPUD2ENSG00000122557ENST00000396081p.M6Tc.17T>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.V804Mc.2410G>ASubstitution - Missense
SMARCD2ENSG00000108604ENST00000323347p.?c.778-3C>TUnknown
EIF2AK1ENSG00000086232ENST00000536084p.E137Qc.409G>CSubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.R721Hc.2162G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.R656Hc.1967G>ASubstitution - Missense
OR2T3ENSG00000196539ENST00000359594p.P267Pc.801G>ASubstitution - coding silent
PRDM4ENSG00000110851ENST00000228437p.E221Kc.661G>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.V500Mc.1498G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.D13100Nc.39298G>ASubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.Q1147Qc.3441A>GSubstitution - coding silent
NM_005539.2p.P328Lc.983C>TSubstitution - Missense
STRCENSG00000242866ENST00000450892p.L1345Pc.4034T>CSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.R1319Qc.3956G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.R1319Qc.3956G>ASubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.G254*c.760G>TSubstitution - Nonsense
CEP350ENSG00000135837ENST00000367607p.I2963Tc.8888T>CSubstitution - Missense
LRP3ENSG00000130881ENST00000253193p.A273Tc.817G>ASubstitution - Missense
NM_003077.2p.?c.754-3C>TUnknown
DMTNENSG00000158856ENST00000265800p.R325Kc.974G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.Q473Kc.1417C>ASubstitution - Missense
FZD1ENSG00000157240ENST00000287934p.P122Pc.366G>TSubstitution - coding silent
CACNG6ENSG00000130433ENST00000252729p.A17fs*102c.49_50insGInsertion - Frameshift
ZNF75AENSG00000162086ENST00000574298p.H239Nc.715C>ASubstitution - Missense
SHOX2ENSG00000168779ENST00000425436p.A320Ac.960C>GSubstitution - coding silent
NFU1ENSG00000169599ENST00000410022p.F197Vc.589T>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.V119Fc.355G>TSubstitution - Missense
PIP5K1CENSG00000186111ENST00000335312p.L450Lc.1350G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ENST00000340070p.R36Rc.108G>ASubstitution - coding silent
MUSKENSG00000030304ENST00000374438p.I162fs*>29c.480_481insAInsertion - Frameshift
KIF6ENSG00000164627ENST00000541946p.R107Hc.320G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.R656Hc.1967G>ASubstitution - Missense
DCDENSG00000161634ENST00000293371p.D71Dc.213C>TSubstitution - coding silent
BBS10ENSG00000179941ENST00000393262p.E262fs*41c.784_785delGADeletion - Frameshift
TSHBENSG00000134200ENST00000256592p.Y74Yc.222T>CSubstitution - coding silent
MANSC1ENSG00000111261ENST00000535902p.T323Ic.968C>TSubstitution - Missense
KCNN3ENSG00000143603ENST00000271915p.Q610Qc.1830G>ASubstitution - coding silent
LIMCH1ENSG00000064042ENST00000313860p.E96Dc.288A>TSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.P36Sc.106C>TSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.P704Rc.2111C>GSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
SLC4A7ENSG00000033867ENST00000455077p.R938Hc.2813G>ASubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.A1867Ac.5601G>TSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.L104Fc.310C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P2416Sc.7246C>TSubstitution - Missense
HNMTENSG00000150540ENST00000280097p.?c.190+1G>TUnknown
OR13C2ENSG00000257019ENST00000542196p.S18Fc.53C>TSubstitution - Missense
HSDL2ENSG00000119471ENST00000398805p.S338Sc.1014C>TSubstitution - coding silent
COL5A1ENSG00000130635ENST00000371817p.A1755Tc.5263G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.V64Fc.190G>TSubstitution - Missense
PLCL2ENSG00000154822ENST00000396755p.K945Rc.2834A>GSubstitution - Missense
PCDHB1ENSG00000171815ENST00000306549p.A28Ac.84G>ASubstitution - coding silent
PCDHB16ENSG00000196963ENST00000361016p.S175Rc.525C>GSubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.A266Pc.796G>CSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G653Gc.1959C>ASubstitution - coding silent
NM_000770.2p.K235*c.703A>TSubstitution - Nonsense
ARAP1ENSG00000186635ENST00000393609p.L26Lc.78C>GSubstitution - coding silent
ENST00000432996p.?c.1242+4C>AUnknown
INPP5AENSG00000068383ENST00000445580p.P10Lc.29C>TSubstitution - Missense
PPP6R1ENSG00000105063ENST00000412770p.P742Sc.2224C>TSubstitution - Missense
ZNF528ENSG00000167555ENST00000360465p.L609Vc.1825C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2950Tc.8850T>ASubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.S589Sc.1767C>TSubstitution - coding silent
ENSG00000073169ENST00000380903p.T457fs*102c.1362_1363insACAAInsertion - Frameshift
ZNF626ENSG00000188171ENST00000291750p.Q5Qc.15A>GSubstitution - coding silent
ALAS2ENSG00000158578ENST00000396198p.H437Hc.1311C>TSubstitution - coding silent
ESYT3ENSG00000158220ENST00000389567p.S712Pc.2134T>CSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.?c.11122-1G>AUnknown
ZNF713ENSG00000178665ENST00000429591p.Y357Yc.1071C>TSubstitution - coding silent
AQP8ENSG00000103375ENST00000219660p.I249Tc.746T>CSubstitution - Missense
OTOAENSG00000155719ENST00000388957p.T461Pc.1381A>CSubstitution - Missense
C16orf47ENSG00000197445ENST00000358463p.S83Tc.247T>ASubstitution - Missense
NPY1RENSG00000164128ENST00000296533p.A23Tc.67G>ASubstitution - Missense
NM_178001.1p.G358Vc.1073G>TSubstitution - Missense
SNRNP35ENSG00000184209ENST00000412157p.L63Lc.189A>GSubstitution - coding silent
OTOAENSG00000155719ENST00000286149p.T799Pc.2395A>CSubstitution - Missense
SLC22A7ENSG00000137204ENST00000451757p.T102Ic.305C>TSubstitution - Missense
ENST00000377445p.?c.431-1C>GUnknown
CLIP2ENSG00000106665ENST00000361545p.R12Hc.35G>ASubstitution - Missense
OR6P1ENSG00000186440ENST00000334632p.S138Pc.412T>CSubstitution - Missense
ZFYVE1ENSG00000165861ENST00000556143p.I590Ic.1770C>ASubstitution - coding silent
SPRR4ENSG00000184148ENST00000328051p.Q65Hc.195G>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000382108p.S492Cc.1474A>TSubstitution - Missense
ENST00000358254p.S322Sc.966C>TSubstitution - coding silent
SDR42E1ENSG00000184860ENST00000328945p.I390Ic.1170T>CSubstitution - coding silent
ENST00000339740p.L529Fc.1587G>TSubstitution - Missense
PLEKHM3ENSG00000178385ENST00000427836p.Y232Cc.695A>GSubstitution - Missense
DRP2ENSG00000102385ENST00000402866p.R678Rc.2034C>TSubstitution - coding silent
TNRC6CENSG00000078687ENST00000301624p.V54Ic.160G>ASubstitution - Missense
ACER1ENSG00000167769ENST00000301452p.I188Mc.564C>GSubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.N749Sc.2246A>GSubstitution - Missense
DALRD3ENSG00000178149ENST00000395462p.Q213Ec.637C>GSubstitution - Missense
ZNF480ENSG00000198464ENST00000335090p.Q343Ec.1027C>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.E1250fs*7c.3748_3755delGAGCAGAGDeletion - Frameshift
CXorf22ENSG00000165164ENST00000297866p.V147Ac.440T>CSubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.G602Gc.1806C>TSubstitution - coding silent
RAC1ENSG00000136238ENST00000348035p.L70fs*10c.209delTDeletion - Frameshift
ABTB1ENSG00000114626ENST00000232744p.L108Lc.324T>CSubstitution - coding silent
ALAS2ENSG00000158578ENST00000330807p.H450Hc.1350C>TSubstitution - coding silent
FOXR2ENSG00000189299ENST00000339140p.R278Cc.832C>TSubstitution - Missense
APOBEC3BENSG00000179750ENST00000333467p.Y150Dc.448T>GSubstitution - Missense
ERAP2ENSG00000164308ENST00000437043p.D717Gc.2150A>GSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.V999Vc.2997C>TSubstitution - coding silent
SULT6B1ENSG00000138068ENST00000260637p.D120Nc.358G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.D2268Hc.6802G>CSubstitution - Missense
AQP1ENSG00000240583ENST00000441328p.A85Vc.254C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T157Ac.469A>GSubstitution - Missense
ZBTB12ENSG00000204366ENST00000375527p.L278Lc.834G>CSubstitution - coding silent
TAP2ENSG00000204267ENST00000374897p.L294Fc.880C>TSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.N166Hc.496A>CSubstitution - Missense
SLC22A7ENSG00000137204ENST00000372574p.T228Ic.683C>TSubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.R332Hc.995G>ASubstitution - Missense
DDX25ENSG00000109832ENST00000263576p.N48Dc.142A>GSubstitution - Missense
FMO4ENSG00000076258ENST00000367749p.E27fs*7c.76_77insTGGAInsertion - Frameshift
PTX4ENSG00000251692ENST00000447419p.R116Rc.348G>TSubstitution - coding silent
RPL5ENSG00000122406ENST00000370321p.C100Yc.299G>ASubstitution - Missense
SPOPENSG00000121067ENST00000393328p.A11Vc.32C>TSubstitution - Missense
C3ENSG00000125730ENST00000245907p.R1042Qc.3125G>ASubstitution - Missense
PTH2RENSG00000144407ENST00000272847p.Y251Cc.752A>GSubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.K152Ec.454A>GSubstitution - Missense
ENST00000377824p.S244delSc.729_731delCAGDeletion - In frame
ARHGDIGENSG00000242173ENST00000219409p.R159Rc.477C>TSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.K1702Ec.5104A>GSubstitution - Missense
ANKARENSG00000151687ENST00000313581p.R801Ic.2402G>TSubstitution - Missense
JPH3ENSG00000154118ENST00000284262p.S258Sc.774C>TSubstitution - coding silent
LONRF2ENSG00000170500ENST00000393437p.M244Lc.730A>CSubstitution - Missense
CPA3ENSG00000163751ENST00000296046p.H415Yc.1243C>TSubstitution - Missense
CLIP2ENSG00000106665ENST00000223398p.R12Hc.35G>ASubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.M1207Kc.3620T>ASubstitution - Missense
BEND6ENSG00000151917ENST00000370746p.G113Gc.339T>GSubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.R66Hc.197G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.V927Mc.2779G>ASubstitution - Missense
C9orf96ENSG00000198870ENST00000371957p.Q140Kc.418C>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000508545p.V50Fc.148G>TSubstitution - Missense
BZRAP1ENSG00000005379ENST00000343736p.T1850Rc.5549C>GSubstitution - Missense
NM_004440p.?c.2532+4G>CUnknown
KMT2CENSG00000055609ENST00000355193p.H3343Hc.10029C>TSubstitution - coding silent
ENST00000334436p.A841Ac.2523C>TSubstitution - coding silent
NEU1ENSG00000204386ENST00000375631p.T148Ic.443C>TSubstitution - Missense
GMPPBENSG00000173540ENST00000308375p.?c.210+9C>TUnknown
NRXN1ENSG00000179915ENST00000402717p.?c.3220+9T>GUnknown
PCLOENSG00000186472ENST00000423517p.M1182Ic.3546G>TSubstitution - Missense
PCDH8ENSG00000136099ENST00000377942p.R1058Sc.3174G>TSubstitution - Missense
OR5A1ENSG00000172320ENST00000302030p.F181Lc.543C>ASubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
ENSG00000205148ENST00000378936p.H43Lc.128A>TSubstitution - Missense
LHX4ENSG00000121454ENST00000263726p.G136Rc.406G>ASubstitution - Missense
LHX4ENSG00000121454ENST00000263726p.?c.452-4G>AUnknown
GRTP1ENSG00000139835ENST00000375431p.Q149Hc.447G>TSubstitution - Missense
F7ENSG00000057593ENST00000375581p.P311Sc.931C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1548Gc.4643A>GSubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.G578Gc.1734G>CSubstitution - coding silent
GLYCTKENSG00000168237ENST00000436784p.A323Ac.969C>TSubstitution - coding silent
KRTAP20-4ENSG00000206105ENST00000382828p.V19_T20delVTc.53_58delCTGTGADeletion - In frame
SEMA3GENSG00000010319ENST00000231721p.N354Sc.1061A>GSubstitution - Missense
VPS35ENSG00000069329ENST00000299138p.Y439Yc.1317T>CSubstitution - coding silent
RFPL2ENSG00000128253ENST00000400236p.R65Rc.195G>TSubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.E809Gc.2426A>GSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.V89Vc.267A>GSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.?c.3364+9T>GUnknown
DSPENSG00000096696ENST00000379802p.K1581Ec.4741A>GSubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.V545Ic.1633G>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.V81Vc.243G>ASubstitution - coding silent
ENST00000590278p.A147Tc.439G>ASubstitution - Missense
SULT6B1ENSG00000138068ENST00000535679p.D158Nc.472G>ASubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.S487Nc.1460G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
ENST00000274705p.A481Tc.1441G>ASubstitution - Missense
TAC3ENSG00000166863ENST00000300108p.E78Dc.234G>TSubstitution - Missense
CYSLTR2ENSG00000152207ENST00000282018p.R145Wc.433C>TSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.M1Tc.2T>CSubstitution - Missense
ENST00000368148p.V184Gc.551T>GSubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.M104Kc.311T>ASubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.V1432Lc.4294G>CSubstitution - Missense
MMP20ENSG00000137674ENST00000260228p.?c.954-16_967>28Unknown
IDH2ENSG00000182054ENST00000330062p.A40Ac.120C>TSubstitution - coding silent
TOR1AIP2ENSG00000169905ENST00000367612p.M438Lc.1312A>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.T26Ic.77C>TSubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.A1127Ac.3381G>ASubstitution - coding silent
LUZP2ENSG00000187398ENST00000336930p.?c.523-5T>CUnknown
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.D4706Nc.14116G>ASubstitution - Missense
GDNFENSG00000168621ENST00000427982p.S181Sc.543C>GSubstitution - coding silent
SYDE2ENSG00000097096ENST00000341460p.F725Vc.2173T>GSubstitution - Missense
RALYENSG00000125970ENST00000246194p.S239_G246>GSGGGGSc.714_736>20Complex - deletion inframe
CPNE2ENSG00000140848ENST00000290776p.G302Gc.906A>TSubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.L2389Sc.7166T>CSubstitution - Missense
ENST00000303890p.R799Cc.2395C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.L4306Lc.12918C>TSubstitution - coding silent
METTL7BENSG00000170439ENST00000394252p.I62Vc.184A>GSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.E854Ac.2561A>CSubstitution - Missense
RGS8ENSG00000135824ENST00000258302p.?c.182+4A>GUnknown
HMCN1ENSG00000143341ENST00000271588p.S2717Fc.8150C>TSubstitution - Missense
SNRNP35ENSG00000184209ENST00000526639p.L58Lc.174A>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000346562p.E37Qc.109G>CSubstitution - Missense
SLC6A13ENSG00000010379ENST00000343164p.R272Hc.815G>ASubstitution - Missense
ALOX15ENSG00000161905ENST00000570836p.V602Ic.1804G>ASubstitution - Missense
ABHD17BENSG00000107362ENST00000333421p.A23Ac.69T>ASubstitution - coding silent
RNF150ENSG00000170153ENST00000515673p.D242Gc.725A>GSubstitution - Missense
FAM167AENSG00000154319ENST00000284486p.R28Wc.82C>TSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.M868Ic.2604G>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.E136*c.406G>TSubstitution - Nonsense
NM_133170.2p.E36Ec.108G>ASubstitution - coding silent
ENST00000329144p.P168Sc.502C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.V836Ac.2507T>CSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.T229Tc.687T>GSubstitution - coding silent
CAPN10ENSG00000142330ENST00000391982p.T339Tc.1017G>ASubstitution - coding silent
ABLIM2ENSG00000163995ENST00000361737p.A266Pc.796G>CSubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.R197*c.589C>TSubstitution - Nonsense
IL16ENSG00000172349ENST00000302987p.G1060Rc.3178G>CSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1152Pc.3456C>TSubstitution - coding silent
TBX10ENSG00000167800ENST00000335385p.S274Gc.820A>GSubstitution - Missense
EFSENSG00000100842ENST00000216733p.P263Lc.788C>TSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.R53Qc.158G>ASubstitution - Missense
TMEM19ENSG00000139291ENST00000266673p.L325Lc.975C>TSubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.R1852Rc.5554C>ASubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.I1129Vc.3385A>GSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.L553Fc.1659G>TSubstitution - Missense
ZNF846ENSG00000196605ENST00000397902p.S434Fc.1301C>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.G2830Sc.8488G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.H2568Qc.7704C>GSubstitution - Missense
HDHD2ENSG00000167220ENST00000300605p.Q125Hc.375A>CSubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.D323Yc.967G>TSubstitution - Missense
DNAJB2ENSG00000135924ENST00000336576p.R82Pc.245G>CSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T593Tc.1779T>CSubstitution - coding silent
HNMTENSG00000150540ENST00000329366p.?c.190+1G>TUnknown
NM_000947.2p.T281Ac.841A>GSubstitution - Missense
FCN1ENSG00000085265ENST00000371806p.S4Rc.12T>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.V61Fc.181G>TSubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.R93Cc.277C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.H3343Hc.10029C>TSubstitution - coding silent
TAS2R39ENSG00000236398ENST00000446620p.T71Tc.213A>TSubstitution - coding silent
NM_002847.2p.V853Ic.2557G>ASubstitution - Missense
UTS2BENSG00000188958ENST00000340524p.R47Lc.140G>TSubstitution - Missense
ENST00000317292p.N111Nc.333C>TSubstitution - coding silent
TMEM59ENSG00000116209ENST00000371337p.?c.189+1G>AUnknown
ZBP1ENSG00000124256ENST00000343535p.A318Ac.954C>ASubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.P2485Sc.7453C>TSubstitution - Missense
FA2HENSG00000103089ENST00000219368p.Y308Yc.924C>TSubstitution - coding silent
CR2ENSG00000117322ENST00000367057p.?c.1571-8C>AUnknown
ACACBENSG00000076555ENST00000377848p.L382Lc.1144T>CSubstitution - coding silent
CDONENSG00000064309ENST00000263577p.H353Yc.1057C>TSubstitution - Missense
PDE8AENSG00000073417ENST00000310298p.A103fs*4c.301_302insAInsertion - Frameshift
C12orf60ENSG00000182993ENST00000330828p.S2Fc.5C>TSubstitution - Missense
POLD3ENSG00000077514ENST00000263681p.A197Tc.589G>ASubstitution - Missense
LMX1AENSG00000162761ENST00000367893p.E332Dc.996G>TSubstitution - Missense
GJB5ENSG00000189280ENST00000338513p.I196Vc.586A>GSubstitution - Missense
C1orf51ENSG00000159208ENST00000369095p.H281Rc.842A>GSubstitution - Missense
DPTENSG00000143196ENST00000367817p.E121Kc.361G>ASubstitution - Missense
PRC1ENSG00000198901ENST00000394249p.W436*c.1307G>ASubstitution - Nonsense
IGSF22ENSG00000179057ENST00000513874p.I966Lc.2896A>CSubstitution - Missense
ENST00000405167p.T2950Tc.8850T>ASubstitution - coding silent
ARMC7ENSG00000125449ENST00000245543p.R177Hc.530G>ASubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.S261Sc.783G>ASubstitution - coding silent
ETAA1ENSG00000143971ENST00000272342p.N477Sc.1430A>GSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.S1468Lc.4403C>TSubstitution - Missense
NM_000032.1p.H450Hc.1350C>TSubstitution - coding silent
SYCP2LENSG00000153157ENST00000283141p.?c.1012-6C>TUnknown
TNIP2ENSG00000168884ENST00000315423p.G391Ec.1172G>ASubstitution - Missense
FFAR2ENSG00000126262ENST00000246549p.V240Mc.718G>ASubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
SCN9AENSG00000169432ENST00000375387p.T1947Rc.5840C>GSubstitution - Missense
MYO1HENSG00000174527ENST00000431443p.G1003Gc.3009C>TSubstitution - coding silent
KIAA0100ENSG00000007202ENST00000528896p.N582Sc.1745A>GSubstitution - Missense
SH3BP2ENSG00000087266ENST00000503393p.R320Wc.958C>TSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.T214Tc.642T>GSubstitution - coding silent
WDR64ENSG00000162843ENST00000366552p.D406Nc.1216G>ASubstitution - Missense
OASLENSG00000135114ENST00000257570p.F198Fc.594C>TSubstitution - coding silent
PRG4ENSG00000116690ENST00000445192p.E302Kc.904G>ASubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.G254*c.760G>TSubstitution - Nonsense
SSFA2ENSG00000138434ENST00000320370p.L1047Pc.3140T>CSubstitution - Missense
SUCLG2ENSG00000172340ENST00000307227p.?c.1062+4A>CUnknown
WDR91ENSG00000105875ENST00000354475p.S659Sc.1977C>TSubstitution - coding silent
ZNF616ENSG00000204611ENST00000330123p.N621Sc.1862A>GSubstitution - Missense
IFT80ENSG00000068885ENST00000326448p.L545Fc.1635G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.M1182Ic.3546G>TSubstitution - Missense
ANLNENSG00000011426ENST00000265748p.E383Ec.1149A>GSubstitution - coding silent
LUC7LENSG00000007392ENST00000293872p.A316Vc.947C>TSubstitution - Missense
XM_070277.6p.R128fs*49c.382delADeletion - Frameshift
NOP2ENSG00000111641ENST00000322166p.D775Yc.2323G>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.Q213*c.637C>TSubstitution - Nonsense
NPAS3ENSG00000151322ENST00000341321p.E67Qc.199G>CSubstitution - Missense
HHATENSG00000054392ENST00000545154p.?c.687+4G>CUnknown
DOPEY1ENSG00000083097ENST00000237163p.Q446Hc.1338G>TSubstitution - Missense
ENST00000307755p.I12Vc.34A>GSubstitution - Missense
NM_018979p.Q734Qc.2202A>GSubstitution - coding silent
PPOXENSG00000143224ENST00000352210p.P92Ac.274C>GSubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.K201Qc.601A>CSubstitution - Missense
EPS15ENSG00000085832ENST00000371733p.S315Rc.943A>CSubstitution - Missense
ZNF66ENSG00000160229ENST00000360204p.K239Rc.716A>GSubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.C196Fc.587G>TSubstitution - Missense
PRKACGENSG00000165059ENST00000377276p.L269Mc.805C>ASubstitution - Missense
NM_080928.2p.K75Tc.224A>CSubstitution - Missense
SLC6A4ENSG00000108576ENST00000261707p.N45Sc.134A>GSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.?c.2939+8G>AUnknown
SU_SgK223p.C1156Yc.3467G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1981Hc.5943C>TSubstitution - coding silent
ENST00000405167p.H1981Hc.5943C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.?c.799+1delgUnknown
PCLOENSG00000186472ENST00000333891p.P2485Sc.7453C>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000320285p.I131Vc.391A>GSubstitution - Missense
SNX8ENSG00000106266ENST00000222990p.E40_I44delEPQAIc.119_133del15Deletion - In frame
DNAH11ENSG00000105877ENST00000328843p.I1807Vc.5419A>GSubstitution - Missense
LGSNENSG00000146166ENST00000485906p.S317Sc.951T>CSubstitution - coding silent
ENST00000575751_v68p.P210Rc.629C>GSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.S350Sc.1050A>CSubstitution - coding silent
KIAA1009ENSG00000135315ENST00000403245p.E231Kc.691G>ASubstitution - Missense
OR3A1ENSG00000180090ENST00000323404p.T60Nc.179C>ASubstitution - Missense
SERPINB6ENSG00000124570ENST00000380520p.R242Kc.725G>ASubstitution - Missense
WDR46ENSG00000227057ENST00000374617p.E133Qc.397G>CSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.V836Ac.2507T>CSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.P1028Pc.3084G>ASubstitution - coding silent
C9orf50ENSG00000179058ENST00000372478p.D429Gc.1286A>GSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.R784Hc.2351G>ASubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.R319Cc.955C>TSubstitution - Missense
XM_290799.5p.?c.3727-10G>AUnknown
GMPPBENSG00000173540ENST00000308388p.?c.210+9C>TUnknown
SAMD9ENSG00000205413ENST00000379958p.L714Ic.2140C>ASubstitution - Missense
GTF2E2ENSG00000197265ENST00000355904p.D229Dc.687C>TSubstitution - coding silent
RFPL2ENSG00000128253ENST00000400237p.R155Rc.465G>TSubstitution - coding silent
CFIENSG00000205403ENST00000394634p.I578Tc.1733T>CSubstitution - Missense
GRIN3BENSG00000116032ENST00000234389p.R524Wc.1570C>TSubstitution - Missense
SV2CENSG00000122012ENST00000502798p.R405Kc.1214G>ASubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.P463Ac.1387C>GSubstitution - Missense
ENST00000573521_v68p.P808Pc.2424G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
PRKAG2ENSG00000106617ENST00000287878p.P136Pc.408C>ASubstitution - coding silent
UBR5ENSG00000104517ENST00000520539p.R1907Hc.5720G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.591-3C>TUnknown
SLC22A7ENSG00000137204ENST00000372585p.T230Ic.689C>TSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.F1589Lc.4765T>CSubstitution - Missense
OR5T2ENSG00000181718ENST00000313264p.N333Sc.998A>GSubstitution - Missense
IZUMO4ENSG00000099840ENST00000395307p.S171Nc.512G>ASubstitution - Missense
DMTNENSG00000158856ENST00000358242p.R325Kc.974G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.T917Ac.2749A>GSubstitution - Missense
TRAF7ENSG00000131653ENST00000326181p.S88Sc.264C>TSubstitution - coding silent
NEK5ENSG00000197168ENST00000355568p.K309Rc.926A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D19472Nc.58414G>ASubstitution - Missense
NEUROD4ENSG00000123307ENST00000242994p.P207Pc.621G>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.P1910Lc.5729C>TSubstitution - Missense
CYP2C8ENSG00000138115ENST00000535898p.K133*c.397A>TSubstitution - Nonsense
NOP2ENSG00000111641ENST00000399466p.D771Yc.2311G>TSubstitution - Missense
HIPK1ENSG00000163349ENST00000369558p.Q1079Qc.3237A>GSubstitution - coding silent
TMEM132CENSG00000181234ENST00000315208p.G649Gc.1947G>ASubstitution - coding silent
SYT16ENSG00000139973ENST00000430451p.S342Sc.1026C>TSubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.I802Vc.2404A>GSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.W691Rc.2071T>CSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.A300Ac.900G>ASubstitution - coding silent
ZNF480ENSG00000198464ENST00000468240p.Q362Ec.1084C>GSubstitution - Missense
CLIP4ENSG00000115295ENST00000320081p.L700Rc.2099T>GSubstitution - Missense
ADAM2ENSG00000104755ENST00000265708p.F577fs*14c.1728_1729insAAInsertion - Frameshift
NDUFS6ENSG00000145494ENST00000274137p.T107Kc.320C>ASubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.A353Tc.1057G>ASubstitution - Missense
XM_371709.3p.D151Gc.452A>GSubstitution - Missense
BTBD2ENSG00000133243ENST00000255608p.?c.791-4A>CUnknown
BRWD3ENSG00000165288ENST00000373275p.T1016Ic.3047C>TSubstitution - Missense
PPP1R21ENSG00000162869ENST00000281394p.E515Kc.1543G>ASubstitution - Missense
SLC35G3ENSG00000164729ENST00000297307p.A130Tc.388G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.T1099Tc.3297A>CSubstitution - coding silent
OTOAENSG00000155719ENST00000388958p.T785Pc.2353A>CSubstitution - Missense
LUC7LENSG00000007392ENST00000397783p.A316Vc.947C>TSubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.L565Ic.1693C>ASubstitution - Missense
CCDC91ENSG00000123106ENST00000306172p.R350Rc.1048C>ASubstitution - coding silent
OR6A2ENSG00000184933ENST00000332601p.R298Hc.893G>ASubstitution - Missense
CRY1ENSG00000008405ENST00000008527p.G2Gc.6G>ASubstitution - coding silent
CCSER2ENSG00000107771ENST00000224756p.D420Nc.1258G>ASubstitution - Missense
FERMT3ENSG00000149781ENST00000345728p.D564Dc.1692C>TSubstitution - coding silent
CD151ENSG00000177697ENST00000397420p.?c.277-9C>AUnknown
MTFMTENSG00000103707ENST00000220058p.G247Sc.739G>ASubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.A865Gc.2594C>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.?c.2418+9C>TUnknown
CNTNAP4ENSG00000152910ENST00000478060p.L481Fc.1443G>TSubstitution - Missense
DNASE2BENSG00000137976ENST00000370662p.L30Ic.88C>ASubstitution - Missense
USP26ENSG00000134588ENST00000370832p.L345Lc.1033C>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.P1047Pc.3141C>GSubstitution - coding silent
NM_015691.2p.R721Hc.2162G>ASubstitution - Missense
NM_032946.1p.N321Nc.963C>TSubstitution - coding silent
YIPF2ENSG00000130733ENST00000253031p.V164Mc.490G>ASubstitution - Missense
CCDC121ENSG00000176714ENST00000394775p.I170Mc.510A>GSubstitution - Missense
MEGF9ENSG00000106780ENST00000426959p.A23_V24insAc.70_71insCCGInsertion - In frame
RABEPKENSG00000136933ENST00000373538p.G209Rc.625G>ASubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.?c.1756+7A>GUnknown
LDB2ENSG00000169744ENST00000304523p.Q370Qc.1110G>ASubstitution - coding silent
TKTL2ENSG00000151005ENST00000280605p.I364Vc.1090A>GSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.F290Fc.870C>TSubstitution - coding silent
FAM153CENSG00000204677ENST00000507848p.R131Qc.392G>ASubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.?c.139-5C>TUnknown
ENST00000458336p.L294Fc.880C>TSubstitution - Missense
RGL2ENSG00000237441ENST00000497454p.S619Fc.1856C>TSubstitution - Missense
RPP40ENSG00000124787ENST00000380051p.?c.894-3C>TUnknown
GCLCENSG00000001084ENST00000229416p.?c.560+10G>AUnknown
IGSF3ENSG00000143061ENST00000369486p.V784Mc.2350G>ASubstitution - Missense
CYP2C8ENSG00000138115ENST00000539050p.K149*c.445A>TSubstitution - Nonsense
ALKBH3ENSG00000166199ENST00000378840p.?c.183+3A>GUnknown
KRTAP5-1ENSG00000205869ENST00000382171p.S72Cc.215C>GSubstitution - Missense
OR51B5ENSG00000242180ENST00000300773p.H170Hc.510T>CSubstitution - coding silent
OR51G1ENSG00000176879ENST00000321961p.F168Fc.504C>TSubstitution - coding silent
UBQLNLENSG00000175518ENST00000380184p.R183Wc.547C>TSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.S426Yc.1277C>ASubstitution - Missense
MYO1HENSG00000174527ENST00000310903p.G993Gc.2979C>TSubstitution - coding silent
WSCD2ENSG00000075035ENST00000261400p.V520Mc.1558G>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.D194Dc.582C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000423482p.?c.2241+9C>TUnknown
MCF2LENSG00000126217ENST00000434480p.?c.2265+9C>TUnknown
ADAMTSL4ENSG00000143382ENST00000369041p.P828Lc.2483C>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369039p.P851Lc.2552C>TSubstitution - Missense
UBE2J2ENSG00000160087ENST00000339385p.P33Sc.97C>TSubstitution - Missense
HHATENSG00000054392ENST00000391905p.?c.684+4G>CUnknown
USH2AENSG00000042781ENST00000366943p.I2861Ic.8583C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.L4306Lc.12918C>TSubstitution - coding silent
TMEM59ENSG00000116209ENST00000452421p.?c.189+1G>AUnknown
KIAA1107ENSG00000069712ENST00000409154p.P156Sc.466C>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.N544Nc.1632C>TSubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.E36Ec.108G>ASubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000419548p.L310Fc.928C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.?c.1477+6G>TUnknown
DNAJB2ENSG00000135924ENST00000392086p.R82Pc.245G>CSubstitution - Missense
APBB2ENSG00000163697ENST00000295974p.T675Tc.2025G>TSubstitution - coding silent
FAM193AENSG00000125386ENST00000324666p.Q1079Qc.3237G>ASubstitution - coding silent
TRIM25ENSG00000121060ENST00000316881p.V565fs*19c.1694_1695delTGDeletion - Frameshift
MUSKENSG00000030304ENST00000189978p.?c.1945+5_1945+6insAUnknown
ACTN1ENSG00000072110ENST00000394419p.I90Ic.270C>ASubstitution - coding silent
PPP2R2BENSG00000156475ENST00000504198p.V67Fc.199G>TSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.R600Hc.1799G>ASubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.?c.2532+4G>CUnknown
MYO6ENSG00000196586ENST00000369981p.S171Fc.512C>TSubstitution - Missense
ENST00000328843_v70p.I1807Vc.5419A>GSubstitution - Missense
ENST00000328843_v70p.S589Sc.1767C>TSubstitution - coding silent
KCNH2ENSG00000055118ENST00000330883p.P744Lc.2231C>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.D836Ac.2507A>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
ABHD17BENSG00000107362ENST00000377041p.A23Ac.69T>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.G248Gc.744C>TSubstitution - coding silent
GSK3BENSG00000082701ENST00000316626p.R332Hc.995G>ASubstitution - Missense
SU_NEK5p.K366Rc.1097A>GSubstitution - Missense
AKR1C1ENSG00000187134ENST00000380872p.Y323*c.969T>GSubstitution - Nonsense
CRB1ENSG00000134376ENST00000367400p.N235Hc.703A>CSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.R1319Qc.3956G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.E37Qc.109G>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.?c.2259+9C>TUnknown
SU_WNK2p.G234Gc.702C>TSubstitution - coding silent
METTL2BENSG00000165055ENST00000262432p.F100Lc.300C>GSubstitution - Missense
ENST00000354485p.S971Lc.2912C>TSubstitution - Missense
MYO6ENSG00000196586ENST00000369977p.S171Fc.512C>TSubstitution - Missense
OR1D5ENSG00000262628ENST00000575751p.P210Rc.629C>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.?c.3364+9T>GUnknown
NRXN1ENSG00000179915ENST00000406316p.?c.3244+9T>GUnknown
PPP1R21ENSG00000162869ENST00000294952p.E515Kc.1543G>ASubstitution - Missense
FAM187AENSG00000214447ENST00000331733p.V269Vc.807G>ASubstitution - coding silent
C17orf104ENSG00000180336ENST00000409122p.L830Fc.2488C>TSubstitution - Missense
USP6ENSG00000129204ENST00000250066p.?c.73-9G>CUnknown
NM_004505.1p.?c.73-9G>CUnknown
INCA1ENSG00000196388ENST00000355025p.?c.45-6C>TUnknown
INCA1ENSG00000196388ENST00000396829p.?c.45-6C>TUnknown
NM_005082.3p.V565fs*19c.1694_1695delTGDeletion - Frameshift
CACTINENSG00000105298ENST00000429344p.P512Ac.1534C>GSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.P444Ac.1330C>GSubstitution - Missense
NMD3ENSG00000169251ENST00000351193p.M353Ic.1059G>CSubstitution - Missense
PEX5LENSG00000114757ENST00000467460p.Q608*c.1822C>TSubstitution - Nonsense
PCDHGA9ENSG00000261934ENST00000573521p.P808Pc.2424G>ASubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.D373Dc.1119T>CSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.D373Dc.1119T>CSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
SU_SgK071p.Q140Kc.418C>ASubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.G862Sc.2584G>ASubstitution - Missense
TRAF2ENSG00000127191ENST00000359662p.L173delLc.517_519delCTTDeletion - In frame
EGLN2ENSG00000269858ENST00000303961p.V295Ic.883G>ASubstitution - Missense
AQP1ENSG00000240583ENST00000311813p.A168Vc.503C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.S487Nc.1460G>ASubstitution - Missense
MAGEA3ENSG00000221867ENST00000370278p.L182Lc.546G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.?c.7752+3A>GUnknown
PCDHA6ENSG00000081842ENST00000378126p.T214Tc.642T>GSubstitution - coding silent
PCDHB15ENSG00000113248ENST00000231173p.E377Kc.1129G>ASubstitution - Missense
OR2B6ENSG00000124657ENST00000244623p.V173Vc.519G>ASubstitution - coding silent
MYLK4ENSG00000145949ENST00000274643p.R91Sc.271C>ASubstitution - Missense
SU_SgK085p.R91Sc.271C>ASubstitution - Missense
MYLK4ENSG00000145949ENST00000268446p.R91Sc.271C>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.P1084Lc.3251C>TSubstitution - Missense
PRKAG2ENSG00000106617ENST00000287878p.G75Ac.224G>CSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.D2268Hc.6802G>CSubstitution - Missense
TNRC18ENSG00000182095ENST00000328270p.D100Hc.298G>CSubstitution - Missense
ZNF3ENSG00000166526ENST00000299667p.D35Nc.103G>ASubstitution - Missense
ZNF3ENSG00000166526ENST00000413658p.D35Nc.103G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.T1099Tc.3297A>CSubstitution - coding silent
CTHRC1ENSG00000164932ENST00000330295p.A212Vc.635C>TSubstitution - Missense
CTHRC1ENSG00000164932ENST00000520337p.A198Vc.593C>TSubstitution - Missense
ENST00000358463_v68p.S83Tc.247T>ASubstitution - Missense
RHOT2ENSG00000140983ENST00000315082p.S85Fc.254C>TSubstitution - Missense
VWA3AENSG00000175267ENST00000389398p.N69Nc.207C>TSubstitution - coding silent
TSC2ENSG00000103197ENST00000219476p.R1174Qc.3521G>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.R1174Qc.3521G>ASubstitution - Missense
AQP8ENSG00000103375ENST00000219660p.I249Tc.746T>CSubstitution - Missense
APC2ENSG00000115266ENST00000233607p.S1719Sc.5157C>TSubstitution - coding silent
WIZENSG00000011451ENST00000389282p.D137Nc.409G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T229Ac.685A>GSubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.A938Ac.2814C>TSubstitution - coding silent
ZEB2ENSG00000169554ENST00000303660p.D630Vc.1889A>TSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.R661Cc.1981C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.?c.591-3C>TUnknown
PTPRN2ENSG00000155093ENST00000404321p.V876Ic.2626G>ASubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.V513Ic.1537G>ASubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.L213Vc.637C>GSubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.I222Ic.666C>TSubstitution - coding silent
GGT1ENSG00000100031ENST00000400380p.A225Sc.673G>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000409728p.V81Vc.243G>ASubstitution - coding silent
ENSG00000258417ENST00000262283p.R318fs*49c.952delADeletion - Frameshift
FAM49BENSG00000153310ENST00000522746p.H61Hc.183C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.R3822Wc.11464C>TSubstitution - Missense
EVA1AENSG00000115363ENST00000393913p.E141Qc.421G>CSubstitution - Missense
CPENSG00000047457ENST00000264613p.S499Gc.1495A>GSubstitution - Missense
ENST00000313019p.A155Ac.465C>GSubstitution - coding silent
ENST00000376951p.S298Sc.894G>ASubstitution - coding silent
LRRC14BENSG00000185028ENST00000328278p.A291Pc.871G>CSubstitution - Missense
ECT2LENSG00000203734ENST00000367682p.R734Cc.2200C>TSubstitution - Missense
RMND1ENSG00000155906ENST00000367303p.D180Nc.538G>ASubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.H1968Hc.5904T>CSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.H1950Hc.5850T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P2485Sc.7453C>TSubstitution - Missense
HGFENSG00000019991ENST00000222390p.?c.1168+10G>AUnknown
PCLOENSG00000186472ENST00000333891p.M1182Ic.3546G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.M1121Ic.3363G>TSubstitution - Missense
USP37ENSG00000135913ENST00000258399p.S170Lc.509C>TSubstitution - Missense
GIGYF2ENSG00000204120ENST00000373563p.G581Gc.1743C>TSubstitution - coding silent
UGT1A4ENSG00000244474ENST00000373409p.S43fs*23c.127delADeletion - Frameshift
CCDC37ENSG00000163885ENST00000352312p.?c.486+10G>AUnknown
COPG1ENSG00000181789ENST00000314797p.R843Sc.2527C>ASubstitution - Missense
PANX2ENSG00000073150ENST00000395842p.H623Hc.1869C>TSubstitution - coding silent
PANX2ENSG00000073150ENST00000159647p.H623Hc.1869C>TSubstitution - coding silent
LIMD1ENSG00000144791ENST00000273317p.F337Lc.1011C>GSubstitution - Missense
PIK3R1ENSG00000145675ENST00000336483p.K178_L179>Ic.533_535delAATComplex - deletion inframe
PIK3R1ENSG00000145675ENST00000320694p.K148_L149>Ic.443_445delAATComplex - deletion inframe
CMYA5ENSG00000164309ENST00000446378p.K1252Kc.3756G>ASubstitution - coding silent
ENST00000238522p.K1252Kc.3756G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T659Kc.1976C>ASubstitution - Missense
EIF2AK1ENSG00000086232ENST00000199389p.E261Qc.781G>CSubstitution - Missense
TMEM248ENSG00000106609ENST00000341567p.K245Kc.735A>GSubstitution - coding silent
RAC1ENSG00000136238ENST00000356142p.L70fs*15c.209delTDeletion - Frameshift
DPP7ENSG00000176978ENST00000371579p.G339Sc.1015G>ASubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.D201Dc.603C>TSubstitution - coding silent
VCX2ENSG00000177504ENST00000317103p.E107_S108ins10c.315_316ins30Insertion - In frame
ZNF100ENSG00000197020ENST00000305570p.Q5Qc.15A>GSubstitution - coding silent
TSSK6ENSG00000178093ENST00000360913p.R148Rc.444C>GSubstitution - coding silent
BCAMENSG00000187244ENST00000270233p.N142Sc.425A>GSubstitution - Missense
IZUMO4ENSG00000099840ENST00000395301p.S124Nc.371G>ASubstitution - Missense
ENST00000300960p.S124Nc.371G>ASubstitution - Missense
DMWDENSG00000185800ENST00000270223p.P417Lc.1250C>TSubstitution - Missense
PPP1R15AENSG00000087074ENST00000200453p.?c.1666-5C>GUnknown
PPP4CENSG00000149923ENST00000279387p.L174Lc.522G>ASubstitution - coding silent
ACMSDENSG00000153086ENST00000356140p.L95Ic.283C>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.V9Vc.27T>CSubstitution - coding silent
SLC15A2ENSG00000163406ENST00000489711p.Y288Yc.864T>CSubstitution - coding silent
FBLN2ENSG00000163520ENST00000492059p.?c.2054-9T>AUnknown
FBLN2ENSG00000163520ENST00000404922p.?c.311-9T>AUnknown
RNF150ENSG00000170153ENST00000420921p.D101Gc.302A>GSubstitution - Missense
RNF4ENSG00000063978ENST00000314289p.L23Vc.67C>GSubstitution - Missense
SH3BP2ENSG00000087266ENST00000356331p.R263Wc.787C>TSubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.Q1079Qc.3237G>ASubstitution - coding silent
H2AFYENSG00000113648ENST00000511689p.N372Sc.1115A>GSubstitution - Missense
H2AFYENSG00000113648ENST00000312469p.N369Sc.1106A>GSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.V6Vc.18T>CSubstitution - coding silent
KDM5DENSG00000012817ENST00000317961p.T284Ac.850A>GSubstitution - Missense
NAP1L3ENSG00000186310ENST00000373079p.E31Ec.93A>GSubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.N138Dc.412A>GSubstitution - Missense
MBPENSG00000197971ENST00000355994p.?c.751-7C>TUnknown
EXT1ENSG00000182197ENST00000378204p.?c.1536+7G>AUnknown
ABCA1ENSG00000165029ENST00000374736p.Q732Qc.2196G>ASubstitution - coding silent
MUSKENSG00000030304ENST00000374448p.?c.1927+5_1927+6insAUnknown
SVEP1ENSG00000165124ENST00000401783p.D836Ac.2507A>CSubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.S817Gc.2449A>GSubstitution - Missense
AHI1ENSG00000135541ENST00000327035p.Q263*c.787C>TSubstitution - Nonsense
DOPEY1ENSG00000083097ENST00000349129p.Q455Hc.1365G>TSubstitution - Missense
TMPRSS11EENSG00000087128ENST00000305363p.Y92Dc.274T>GSubstitution - Missense
MT1GENSG00000125144ENST00000444837p.A53Vc.158C>TSubstitution - Missense
MT1GENSG00000125144ENST00000379811p.A54Vc.161C>TSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.G2307Gc.6921A>CSubstitution - coding silent
C21orf91ENSG00000154642ENST00000284881p.I203Vc.607A>GSubstitution - Missense
KRT36ENSG00000126337ENST00000328119p.N90Nc.270C>TSubstitution - coding silent
KCNE2ENSG00000159197ENST00000290310p.G118Gc.354G>ASubstitution - coding silent
TCP10LENSG00000242220ENST00000300258p.L38Ic.112C>ASubstitution - Missense
APBB2ENSG00000163697ENST00000513140p.T653Tc.1959G>TSubstitution - coding silent
LIMCH1ENSG00000064042ENST00000512820p.E96Dc.288A>TSubstitution - Missense
RHOAENSG00000067560ENST00000418115p.G14Ec.41G>ASubstitution - Missense
DALRD3ENSG00000178149ENST00000341949p.Q380Ec.1138C>GSubstitution - Missense
HIST1H1TENSG00000187475ENST00000338379p.A30Ac.90T>CSubstitution - coding silent
HIST1H1CENSG00000187837ENST00000343677p.G83Rc.247G>CSubstitution - Missense
PARP10ENSG00000178685ENST00000313028p.?c.2+1G>AUnknown
ARHGEF10ENSG00000104728ENST00000349830p.D1216Dc.3648C>TSubstitution - coding silent
NM_014629.1p.D993Dc.2979C>TSubstitution - coding silent
MSR1ENSG00000038945ENST00000381998p.P36Sc.106C>TSubstitution - Missense
ENSG00000182319ENST00000330777p.C1154Yc.3461G>ASubstitution - Missense
DCCENSG00000187323ENST00000442544p.F271Fc.813T>CSubstitution - coding silent
PIGNENSG00000197563ENST00000357637p.A43Ac.129G>CSubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.S580Sc.1740C>TSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.A245Ac.735G>ASubstitution - coding silent
C20orf112ENSG00000197183ENST00000359676p.M205Vc.613A>GSubstitution - Missense
PTPRAENSG00000132670ENST00000380393p.?c.2335-10C>TUnknown
PTPRAENSG00000132670ENST00000358719p.?c.1903-10C>TUnknown
CAPN10ENSG00000142330ENST00000391984p.T339Tc.1017G>ASubstitution - coding silent
CAPN10ENSG00000142330ENST00000354082p.T339Tc.1017G>ASubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.K1470Kc.4410G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.K1273Kc.3819G>ASubstitution - coding silent
ZBTB11ENSG00000066422ENST00000312938p.L242Lc.726T>ASubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.S151Yc.452C>ASubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.R79Hc.236G>ASubstitution - Missense
MRGBPENSG00000101189ENST00000370487p.?c.428-9G>AUnknown
SLCO4A1ENSG00000101187ENST00000370507p.S139Nc.416G>ASubstitution - Missense
RGS19ENSG00000171700ENST00000395042p.A106Ac.318G>ASubstitution - coding silent
ANGPT4ENSG00000101280ENST00000381922p.P83Sc.247C>TSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.P639Tc.1915C>ASubstitution - Missense
RASD2ENSG00000100302ENST00000216127p.T11Mc.32C>TSubstitution - Missense
RFPL2ENSG00000128253ENST00000248980p.R94Rc.282G>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400248p.E1319fs*7c.3955_3962delGAGCAGAGDeletion - Frameshift
CCDC121ENSG00000176714ENST00000324364p.I8Mc.24A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1664Hc.4991C>ASubstitution - Missense
ENST00000405167p.P1664Hc.4991C>ASubstitution - Missense
LAMTOR3ENSG00000109270ENST00000499666p.T77Ac.229A>GSubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.A266Pc.796G>CSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.S699Fc.2096C>TSubstitution - Missense
NM_152632.1p.V147Ac.440T>CSubstitution - Missense
SLC9A7ENSG00000065923ENST00000328306p.V386Vc.1158C>TSubstitution - coding silent
OTTHUMT00000056374.1p.N21Nc.63T>CSubstitution - coding silent
BSGENSG00000172270ENST00000333511p.H86Rc.257A>GSubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.N544Nc.1632C>TSubstitution - coding silent
DVL2ENSG00000004975ENST00000005340p.N368Nc.1104T>CSubstitution - coding silent
MAPK8IP2ENSG00000008735ENST00000008876p.?c.1527+4_1527+11delagtctgctUnknown
CHRNB1ENSG00000170175ENST00000306071p.S36Cc.107C>GSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.L104Fc.310C>TSubstitution - Missense
PDCD6IPENSG00000170248ENST00000307296p.P175Pc.525G>ASubstitution - coding silent
NM_003242p.Q166Qc.498A>GSubstitution - coding silent
DCLK3ENSG00000163673ENST00000416516p.L287Ic.859C>ASubstitution - Missense
XYLBENSG00000093217ENST00000207870p.?c.765+4G>TUnknown
KLHL40ENSG00000157119ENST00000287777p.R474Rc.1422G>ASubstitution - coding silent
EFNA5ENSG00000184349ENST00000333274p.A196Ac.588C>TSubstitution - coding silent
SLC12A7ENSG00000113504ENST00000264930p.M935Ic.2805G>ASubstitution - Missense
ENST00000234668p.F647Vc.1939T>GSubstitution - Missense
STON2ENSG00000140022ENST00000267540p.T114Tc.342A>GSubstitution - coding silent
MTFMTENSG00000103707ENST00000220058p.G247Sc.739G>ASubstitution - Missense
ZWILCHENSG00000174442ENST00000307897p.L346Vc.1036C>GSubstitution - Missense
GBP1ENSG00000117228ENST00000370473p.D538Nc.1612G>ASubstitution - Missense
KIAA1107ENSG00000069712ENST00000370378p.P101Sc.301C>TSubstitution - Missense
EML1ENSG00000066629ENST00000334192p.N459Sc.1376A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.?c.2337+9C>TUnknown
ENST00000360220p.S492Cc.1474A>TSubstitution - Missense
GDNFENSG00000168621ENST00000326524p.S164Sc.492C>GSubstitution - coding silent
PLCXD3ENSG00000182836ENST00000377801p.T282Mc.845C>TSubstitution - Missense
OSGIN1ENSG00000140961ENST00000343939p.V280Ac.839T>CSubstitution - Missense
EMC8ENSG00000131148ENST00000253457p.?c.378+1G>CUnknown
ALOX15ENSG00000161905ENST00000545513p.V624Ic.1870G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.I186Vc.556A>GSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.I186Vc.556A>GSubstitution - Missense
SESTD1ENSG00000187231ENST00000428443p.M154Tc.461T>CSubstitution - Missense
ENST00000344648p.T747delTc.2236_2238delACTDeletion - In frame
GLSENSG00000115419ENST00000338435p.V575Lc.1723G>TSubstitution - Missense
ANKARENSG00000151687ENST00000520309p.R872Ic.2615G>TSubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.N788Nc.2364T>CSubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.D495Yc.1483G>TSubstitution - Missense
PLEKHM3ENSG00000178385ENST00000427836p.Y232Cc.695A>GSubstitution - Missense
DEFA4ENSG00000164821ENST00000297435p.R95Cc.283C>TSubstitution - Missense
THOC2ENSG00000125676ENST00000245838p.M460Ic.1380G>ASubstitution - Missense
TNFSF14ENSG00000125735ENST00000245912p.S34Tc.101G>CSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.D607Nc.1819G>ASubstitution - Missense
INSRENSG00000171105ENST00000302850p.M65_K67delMFKc.194_202delTGTTCAAAADeletion - In frame
INSRENSG00000171105ENST00000302850p.M65_K67delMFKc.194_202delTGTTCAAAADeletion - In frame
PTBP1ENSG00000011304ENST00000356948p.L534Lc.1602C>TSubstitution - coding silent
WNK2ENSG00000165238ENST00000297954p.G248Gc.744C>TSubstitution - coding silent
ELAC2ENSG00000006744ENST00000338034p.E174Kc.520G>ASubstitution - Missense
SMYD4ENSG00000186532ENST00000305513p.P735Lc.2204C>TSubstitution - Missense
TEN1-CDK3ENSG00000261408ENST00000448471p.E224Kc.670G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.V54Ic.160G>ASubstitution - Missense
ZNF681ENSG00000196172ENST00000402377p.K308Rc.923A>GSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.A608Pc.1822G>CSubstitution - Missense
GPIENSG00000105220ENST00000356487p.?c.486+7A>GUnknown
ENST00000469064p.A25Pc.73G>CSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A157Sc.469G>TSubstitution - Missense
IRF3ENSG00000126456ENST00000309877p.V295Vc.885G>ASubstitution - coding silent
VRK3ENSG00000105053ENST00000316763p.S48Sc.144A>GSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000344754p.L1496Lc.4488C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.L1496Lc.4488C>TSubstitution - coding silent
ZBP1ENSG00000124256ENST00000371173p.A318Ac.954C>ASubstitution - coding silent
TFAP2CENSG00000087510ENST00000201031p.R279Rc.835C>ASubstitution - coding silent
LRRC19ENSG00000184434ENST00000380055p.T204Nc.611C>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.A329Vc.986C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.A261Vc.782C>TSubstitution - Missense
GRHPRENSG00000137106ENST00000318158p.S244delSc.729_731delCAGDeletion - In frame
CACNA1DENSG00000157388ENST00000350061p.T1099Tc.3297G>ASubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.I802Vc.2404A>GSubstitution - Missense
SUCLG2ENSG00000172340ENST00000493112p.?c.1062+4A>CUnknown
NM_003848.1p.?c.918+4A>CUnknown
STC1ENSG00000159167ENST00000290271p.S80Sc.240C>TSubstitution - coding silent
POP1ENSG00000104356ENST00000349693p.C845Yc.2534G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.G578Ec.1733G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1548Gc.4643A>GSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.?c.5914+10C>TUnknown
ENST00000005905p.N582Sc.1745A>GSubstitution - Missense
ABHD15ENSG00000168792ENST00000307201p.T421Tc.1263G>ASubstitution - coding silent
ARL16ENSG00000214087ENST00000397498p.A4Ac.12C>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.Q473Kc.1417C>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.L176Fc.528G>TSubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.S71Sc.213T>CSubstitution - coding silent
B3GAT1ENSG00000109956ENST00000537389p.N3Kc.9T>ASubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.I865Lc.2593A>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.I2963Tc.8888T>CSubstitution - Missense
C12orf57ENSG00000111678ENST00000229281p.A9Ac.27G>ASubstitution - coding silent
ENST00000355015p.V106Mc.316G>ASubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.P86Sc.256C>TSubstitution - Missense
USP28ENSG00000048028ENST00000003302p.?c.622-4A>GUnknown
NPATENSG00000149308ENST00000278612p.R230Qc.689G>ASubstitution - Missense
RDXENSG00000137710ENST00000343115p.?c.96+9C>GUnknown
KIAA1549LENSG00000110427ENST00000265654p.A1133Ac.3399G>ASubstitution - coding silent
PSRC1ENSG00000134222ENST00000369904p.A307Pc.919G>CSubstitution - Missense
MTORENSG00000198793ENST00000361445p.T996Tc.2988G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.A4143Gc.12428C>GSubstitution - Missense
NBPF20ENSG00000203832ENST00000369202p.?c.11427-80_12159-82del4759Unknown
PTX4ENSG00000251692ENST00000293922p.R111Rc.333G>TSubstitution - coding silent
XM_372608.1p.R382Qc.1145G>ASubstitution - Missense
MYO3AENSG00000095777ENST00000543632p.T26Ic.77C>TSubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.I90Ic.270C>ASubstitution - coding silent
TVP23AENSG00000166676ENST00000299866p.L69Pc.206T>CSubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.R726Rc.2178T>CSubstitution - coding silent
MAB21L3ENSG00000173212ENST00000369500p.D134Dc.402C>TSubstitution - coding silent
FERMT3ENSG00000149781ENST00000279227p.V310Vc.930G>CSubstitution - coding silent
FERMT3ENSG00000149781ENST00000345728p.V310Vc.930G>CSubstitution - coding silent
FERMT3ENSG00000149781ENST00000279227p.D568Dc.1704C>TSubstitution - coding silent
STIP1ENSG00000168439ENST00000305218p.I196Ic.588T>CSubstitution - coding silent
MAP4K2ENSG00000168067ENST00000294066p.A339Tc.1015G>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.?c.875+8C>TUnknown
TPCN1ENSG00000186815ENST00000335509p.?c.659+8C>TUnknown
TAOK3ENSG00000135090ENST00000419821p.K201Qc.601A>CSubstitution - Missense
PRB1ENSG00000251655ENST00000500254p.G115Dc.344G>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.I2153Mc.6459C>GSubstitution - Missense
UBE2J2ENSG00000160087ENST00000400930p.P84Sc.250C>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369038p.P828Lc.2483C>TSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.V111Ac.332T>CSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.V111Ac.332T>CSubstitution - Missense
CGNENSG00000143375ENST00000271636p.R211Wc.631C>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.Q2143Qc.6429G>ASubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.Q119Qc.357G>ASubstitution - coding silent
MMACHCENSG00000132763ENST00000401061p.E217Gc.650A>GSubstitution - Missense
AKR1A1ENSG00000117448ENST00000372070p.R251Rc.753G>ASubstitution - coding silent
C1orf168ENSG00000187889ENST00000343433p.S727Sc.2181A>GSubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.T506fs*35c.1515_1516delAADeletion - Frameshift
PRKAA2ENSG00000162409ENST00000371244p.T506fs*35c.1515_1516delAADeletion - Frameshift
TMEM59ENSG00000116209ENST00000234831p.?c.189+1G>AUnknown
FANCMENSG00000187790ENST00000267430p.T1293fs*20c.3876delADeletion - Frameshift
C14orf177ENSG00000176605ENST00000325812p.?c.200-10C>AUnknown
CCDC91ENSG00000123106ENST00000381259p.R380Rc.1138C>ASubstitution - coding silent
SPRR2FENSG00000244094ENST00000468739p.P37Pc.111A>GSubstitution - coding silent
ADORA1ENSG00000163485ENST00000309502p.Q310Lc.929A>TSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.T3716Pc.11146A>CSubstitution - Missense
ENST00000298047_v61p.G3316Vc.9947G>TSubstitution - Missense
MTNR1BENSG00000134640ENST00000257068p.A325Vc.974C>TSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000541076p.T229Tc.687T>GSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.A3910Ac.11730A>CSubstitution - coding silent
ENST00000280576p.A2502Ac.7506A>CSubstitution - coding silent
TMEM132CENSG00000181234ENST00000435159p.G1033Gc.3099G>ASubstitution - coding silent
PRDM2ENSG00000116731ENST00000235372p.Q1122Qc.3366G>ASubstitution - coding silent
CYP2J2ENSG00000134716ENST00000371204p.K267fs*75c.800_809del10Deletion - Frameshift
LRRC7ENSG00000033122ENST00000035383p.S1338Sc.4014C>TSubstitution - coding silent
MIER1ENSG00000198160ENST00000371014p.L470_P471insLc.1404_1405insCTTInsertion - In frame
DNASE2BENSG00000137976ENST00000370665p.L238Ic.712C>ASubstitution - Missense
REREENSG00000142599ENST00000400908p.S1366Ac.4096T>GSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.T631Ac.1891A>GSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.G598Vc.1793G>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000521381p.K448_L449>Ic.1343_1345delAATComplex - deletion inframe
C17orf97ENSG00000187624ENST00000360127p.F255Ic.763T>ASubstitution - Missense
DFNA5ENSG00000105928ENST00000342947p.L481Lc.1443T>CSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.A3458Tc.10372G>ASubstitution - Missense
ENST00000280576p.A2050Tc.6148G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.A229Tc.685G>ASubstitution - Missense
ZKSCAN7ENSG00000196345ENST00000273320p.R599Qc.1796G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.C16*c.48C>ASubstitution - Nonsense
TRMT6ENSG00000089195ENST00000203001p.M321Vc.961A>GSubstitution - Missense
EGFRENSG00000146648ENST00000344576p.G598Vc.1793G>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.A1972Tc.5914G>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.A1972Tc.5914G>ASubstitution - Missense
TMEM184AENSG00000164855ENST00000297477p.R92Cc.274C>TSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.G30Sc.88G>ASubstitution - Missense
CBWD6ENSG00000204790ENST00000377457p.?c.431-1C>GUnknown
RIMBP2ENSG00000060709ENST00000261655p.D286Dc.858C>TSubstitution - coding silent
GLP1RENSG00000112164ENST00000373256p.L159Mc.475C>ASubstitution - Missense
SLC4A7ENSG00000033867ENST00000295736p.R1057Hc.3170G>ASubstitution - Missense
ENST00000356127p.D19470Nc.58408G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.D13167Nc.39499G>ASubstitution - Missense
NM_003319p.D12975Nc.38923G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000427130p.V901Ic.2701G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000038176p.V870Ic.2608G>ASubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.A1017Vc.3050C>TSubstitution - Missense
INTS7ENSG00000143493ENST00000366994p.N356Sc.1067A>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.I2861Ic.8583C>TSubstitution - coding silent
PTPN14ENSG00000152104ENST00000366956p.T351Tc.1053G>ASubstitution - coding silent
HOXC9ENSG00000180806ENST00000303450p.T232Tc.696C>TSubstitution - coding silent
NUFIP1ENSG00000083635ENST00000379161p.S133Sc.399C>TSubstitution - coding silent
SLC30A7ENSG00000162695ENST00000357650p.Q361Hc.1083G>CSubstitution - Missense
ITIH2ENSG00000151655ENST00000358415p.S543Sc.1629C>TSubstitution - coding silent
CCSER2ENSG00000107771ENST00000372088p.D420Nc.1258G>ASubstitution - Missense
CLMPENSG00000166250ENST00000448775p.N212Nc.636C>TSubstitution - coding silent
ENST00000349637p.T4201Mc.12602C>TSubstitution - Missense
ENST00000349637p.P1913Lc.5738C>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.A1377Pc.4129G>CSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.A1028Pc.3082G>CSubstitution - Missense
ALKBH3ENSG00000166199ENST00000302708p.?c.183+3A>GUnknown
APOBEC1ENSG00000111701ENST00000229304p.S147Pc.439T>CSubstitution - Missense
MTRENSG00000116984ENST00000366577p.A1048Tc.3142G>ASubstitution - Missense
NM_172217.1p.G1014Rc.3040G>CSubstitution - Missense
ZNF592ENSG00000166716ENST00000299927p.Y606Hc.1816T>CSubstitution - Missense
ENST00000268134p.A2166Ac.6498C>GSubstitution - coding silent
ACANENSG00000157766ENST00000439576p.A2166Ac.6498C>GSubstitution - coding silent
POLD3ENSG00000077514ENST00000263681p.A197Tc.589G>ASubstitution - Missense
XRRA1ENSG00000166435ENST00000340360p.T594Tc.1782G>ASubstitution - coding silent
OR5P3ENSG00000182334ENST00000328375p.L288fs*14c.863delTDeletion - Frameshift
INPP5AENSG00000068383ENST00000368594p.P328Lc.983C>TSubstitution - Missense
OR11G2ENSG00000196832ENST00000357366p.F141Ic.421T>ASubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.T547Tc.1641C>ASubstitution - coding silent
ADCY4ENSG00000129467ENST00000310677p.R204Wc.610C>TSubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.L497Lc.1491C>GSubstitution - coding silent
CPT1AENSG00000110090ENST00000265641p.S671Sc.2013C>TSubstitution - coding silent
CPT1AENSG00000110090ENST00000376618p.S671Sc.2013C>TSubstitution - coding silent
TMTC4ENSG00000125247ENST00000342624p.D371Dc.1113C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1154Pc.3462T>ASubstitution - coding silent
ENST00000341258p.D126Nc.376G>ASubstitution - Missense
C10orf118ENSG00000165813ENST00000369287p.V389Ic.1165G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.R53Qc.158G>ASubstitution - Missense
SCAF11ENSG00000139218ENST00000369367p.C542Rc.1624T>CSubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.?c.872+10C>TUnknown
TMCO1ENSG00000143183ENST00000367881p.P40Pc.120C>GSubstitution - coding silent
PLEKHA7ENSG00000166689ENST00000355661p.G636Sc.1906G>ASubstitution - Missense


COSMIC

0 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