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BL-41 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

589 mutations reported
233 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
NM_002467.2p.C25Wc.75C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V1235Vc.3705G>TSubstitution - coding silent
DCSTAMPENSG00000164935ENST00000297581p.R92Hc.275G>ASubstitution - Missense
ZBTB43ENSG00000169155ENST00000373457p.A262Tc.784G>ASubstitution - Missense
LRRC10ENSG00000198812ENST00000361484p.T244Mc.731C>TSubstitution - Missense
TAF3ENSG00000165632ENST00000344293p.R791Kc.2372G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.V1189Vc.3567G>TSubstitution - coding silent
ENST00000356127p.V1235Vc.3705G>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.V1235Vc.3705G>TSubstitution - coding silent
PLEKHM3ENSG00000178385ENST00000427836p.R126Qc.377G>ASubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.F108Fc.324C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.L1232Lc.3696G>ASubstitution - coding silent
ENST00000417177p.L1237Lc.3711G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.L1237Lc.3711G>ASubstitution - coding silent
ENST00000426033p.P1654Lc.4961C>TSubstitution - Missense
WDFY4ENSG00000128815ENST00000374161p.S200Sc.600C>TSubstitution - coding silent
MAN2A2ENSG00000196547ENST00000360468p.P139Pc.417G>ASubstitution - coding silent
IGF1RENSG00000140443ENST00000268035p.V554Mc.1660G>ASubstitution - Missense
TTLL13ENSG00000213471ENST00000339615p.F441Fc.1323C>TSubstitution - coding silent
TTLL13ENSG00000213471ENST00000438251p.F441Fc.1323C>TSubstitution - coding silent
KIAA1217ENSG00000120549ENST00000430453p.Q547Qc.1641G>ASubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.R3308Rc.9924C>TSubstitution - coding silent
MTORENSG00000198793ENST00000361445p.I2017Tc.6050T>CSubstitution - Missense
MTORENSG00000198793ENST00000361445p.K1805Kc.5415A>GSubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.C86*c.258C>ASubstitution - Nonsense
BCO2ENSG00000197580ENST00000357685p.?c.866-7C>AUnknown
NCAM1ENSG00000149294ENST00000316851p.L159Lc.477G>CSubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.Q773Lc.2318A>TSubstitution - Missense
SYT8ENSG00000149043ENST00000381968p.R338*c.1012C>TSubstitution - Nonsense
NM_002155.3p.C269Yc.806G>ASubstitution - Missense
ENST00000326544p.F642Sc.1925T>CSubstitution - Missense
ENST00000367790p.V594Vc.1782T>CSubstitution - coding silent
METTL11BENSG00000203740ENST00000439373p.G126Gc.378G>CSubstitution - coding silent
SENP1ENSG00000079387ENST00000448372p.Y275Cc.824A>GSubstitution - Missense
SWAP70ENSG00000133789ENST00000318950p.L491Qc.1472T>ASubstitution - Missense
CLEC12AENSG00000172322ENST00000355690p.G35Sc.103G>ASubstitution - Missense
CLEC12AENSG00000172322ENST00000304361p.G25Sc.73G>ASubstitution - Missense
PYROXD2ENSG00000119943ENST00000370575p.L199Lc.597C>TSubstitution - coding silent
FAM160B1ENSG00000151553ENST00000369248p.L91Ic.271T>ASubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.L91Ic.271T>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000439649p.R372Qc.1115G>ASubstitution - Missense
IL22RA1ENSG00000142677ENST00000270800p.I304Ic.912C>TSubstitution - coding silent
HMGCLENSG00000117305ENST00000374490p.A130Ac.390C>TSubstitution - coding silent
ENST00000341258p.?c.725-1delgUnknown
WDR64ENSG00000162843ENST00000366552p.?c.1565-1delgUnknown
WNK1ENSG00000060237ENST00000537687p.V562Ac.1685T>CSubstitution - Missense
NM_018979p.V562Ac.1685T>CSubstitution - Missense
TMPOENSG00000120802ENST00000266732p.R230Cc.688C>TSubstitution - Missense
KRTAP5-11ENSG00000204571ENST00000398530p.C52Gc.154T>GSubstitution - Missense
YIF1AENSG00000174851ENST00000376901p.L134Pc.401T>CSubstitution - Missense
METTL12ENSG00000214756ENST00000532971p.I195Fc.583A>TSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.S46Sc.138C>TSubstitution - coding silent
LRP10ENSG00000197324ENST00000359591p.G109Rc.325G>ASubstitution - Missense
PPP2R2DENSG00000175470ENST00000455566p.D419Gc.1256A>GSubstitution - Missense
NM_001003656.1p.D223Gc.668A>GSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.T3009Tc.9027C>GSubstitution - coding silent
KIAA1024ENSG00000169330ENST00000305428p.H302Qc.906C>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.P64Pc.192C>ASubstitution - coding silent
EXOC8ENSG00000116903ENST00000360394p.T425Tc.1275G>ASubstitution - coding silent
MYO1AENSG00000166866ENST00000300119p.L274Mc.820C>ASubstitution - Missense
LRRC71ENSG00000160838ENST00000337428p.L283Vc.847C>GSubstitution - Missense
BSXENSG00000188909ENST00000343035p.A197Tc.589G>ASubstitution - Missense
GRID1ENSG00000182771ENST00000327946p.G762Sc.2284G>ASubstitution - Missense
NDST2ENSG00000166507ENST00000309979p.T739Tc.2217C>ASubstitution - coding silent
SNAP47ENSG00000143740ENST00000366759p.R48Mc.143G>TSubstitution - Missense
PFKPENSG00000067057ENST00000381125p.K395Rc.1184A>GSubstitution - Missense
PFKPENSG00000067057ENST00000381075p.K387Rc.1160A>GSubstitution - Missense
VCAM1ENSG00000162692ENST00000294728p.L193Fc.577C>TSubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.E113Kc.337G>ASubstitution - Missense
MLNRENSG00000102539ENST00000398307p.A225Tc.673G>ASubstitution - Missense
C4BPBENSG00000123843ENST00000367076p.S158Tc.472T>ASubstitution - Missense
BRD8ENSG00000112983ENST00000254900p.T814Tc.2442G>ASubstitution - coding silent
BRD8ENSG00000112983ENST00000230901p.T887Tc.2661G>ASubstitution - coding silent
TGENSG00000042832ENST00000220616p.G2387Gc.7161C>TSubstitution - coding silent
GFRA1ENSG00000151892ENST00000369236p.R367Qc.1100G>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.L530Ic.1588C>ASubstitution - Missense
SRGAP3ENSG00000196220ENST00000383836p.I687Ic.2061C>ASubstitution - coding silent
COL6A1ENSG00000142156ENST00000361866p.T988Sc.2963C>GSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.G1131Rc.3391G>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.G1131Rc.3391G>ASubstitution - Missense
OR4F17ENSG00000176695ENST00000318050p.G9Gc.27T>ASubstitution - coding silent
ZNF750ENSG00000141579ENST00000269394p.P614Sc.1840C>TSubstitution - Missense
ENSG00000214167ENST00000375684p.E166Kc.496G>ASubstitution - Missense
ENST00000389520_v65p.C1209fs*11c.3621delGDeletion - Frameshift
ACEENSG00000159640ENST00000290866p.L333Qc.998T>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.?c.8567-9T>CUnknown
ENST00000318252p.?c.7754-9T>CUnknown
ADRA1AENSG00000120907ENST00000358857p.R317Rc.951G>ASubstitution - coding silent
C3orf14ENSG00000114405ENST00000232519p.?c.54-2A>CUnknown
PLXNA4ENSG00000221866ENST00000378539p.A67Ac.201C>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000423507p.A67Ac.201C>ASubstitution - coding silent
LRRC19ENSG00000184434ENST00000380055p.D351Hc.1051G>CSubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.D227Dc.681C>TSubstitution - coding silent
ZFP64ENSG00000020256ENST00000216923p.D227Dc.681C>TSubstitution - coding silent
KLK3ENSG00000142515ENST00000360617p.V60Ac.179T>CSubstitution - Missense
ENST00000399211_v68p.A168Ac.504T>GSubstitution - coding silent
ACSL4ENSG00000068366ENST00000469796p.N230fs*21c.690delTDeletion - Frameshift
MUC16ENSG00000181143ENST00000380951p.S186Yc.557C>ASubstitution - Missense
CD70ENSG00000125726ENST00000245903p.R192Rc.576C>ASubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000446248p.L337Lc.1011G>ASubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000160298p.L310Lc.930G>ASubstitution - coding silent
RB1CC1ENSG00000023287ENST00000025008p.K917Ec.2749A>GSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.D942Ec.2826C>ASubstitution - Missense
MDH1BENSG00000138400ENST00000374412p.P476Sc.1426C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P1819Pc.5457A>CSubstitution - coding silent
IGF2BP1ENSG00000159217ENST00000290341p.T517Tc.1551G>ASubstitution - coding silent
AGXT2ENSG00000113492ENST00000231420p.?c.1438-5C>TUnknown
COL4A2ENSG00000134871ENST00000360467p.R1069Rc.3207G>ASubstitution - coding silent
GBP5ENSG00000154451ENST00000370459p.T125Ic.374C>TSubstitution - Missense
UACAENSG00000137831ENST00000379983p.Q171Kc.511C>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000389002p.H766Yc.2296C>TSubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.H713Yc.2137C>TSubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.V478Ic.1432G>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.N3982Dc.11944A>GSubstitution - Missense
CNKSR1ENSG00000142675ENST00000361530p.R374Qc.1121G>ASubstitution - Missense
PITPNM2ENSG00000090975ENST00000320201p.L599Lc.1797G>ASubstitution - coding silent
DLG2ENSG00000150672ENST00000398309p.P715Lc.2144C>TSubstitution - Missense
TMEM126AENSG00000171202ENST00000304511p.A136Tc.406G>ASubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.S813Sc.2439A>GSubstitution - coding silent
TNFAIP8L3ENSG00000183578ENST00000327536p.W25*c.74G>ASubstitution - Nonsense
TMEM81ENSG00000174529ENST00000367167p.A248Ac.744G>ASubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.?c.1773+5A>CUnknown
SLC26A9ENSG00000174502ENST00000367135p.?c.1773+5A>CUnknown
PRELPENSG00000188783ENST00000343110p.R281Rc.843G>ASubstitution - coding silent
LCE1EENSG00000186226ENST00000368771p.Q112Hc.336G>TSubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.V131Dc.392T>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.N512Kc.1536C>ASubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.S567Nc.1700G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.E667Ec.2001A>GSubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.E667Ec.2001A>GSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.R3270Rc.9808C>ASubstitution - coding silent
IGSF3ENSG00000143061ENST00000369486p.G49Rc.145G>CSubstitution - Missense
RNF220ENSG00000187147ENST00000361799p.L271Pc.812T>CSubstitution - Missense
RNF220ENSG00000187147ENST00000355387p.L271Pc.812T>CSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.A1837Sc.5509G>TSubstitution - Missense
DDX21ENSG00000165732ENST00000354185p.R725Rc.2175G>ASubstitution - coding silent
TMEM26ENSG00000196932ENST00000399298p.I259Ic.777C>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.P1443_G1444insPc.4305_4306insCCGInsertion - In frame
ENST00000417177p.P1448_G1449insPc.4320_4321insCCGInsertion - In frame
FCHO2ENSG00000157107ENST00000430046p.?c.1848-5T>CUnknown
CELSR3ENSG00000008300ENST00000164024p.R2629Hc.7886G>ASubstitution - Missense
MLC1ENSG00000100427ENST00000395876p.D363Nc.1087G>ASubstitution - Missense
PHF21BENSG00000056487ENST00000313237p.P86Pc.258G>TSubstitution - coding silent
PCBP1ENSG00000169564ENST00000303577p.V267Mc.799G>ASubstitution - Missense
KIAA1841ENSG00000162929ENST00000402291p.A687Vc.2060C>TSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.V315Mc.943G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.T2185Tc.6555C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.T2185Tc.6555C>TSubstitution - coding silent
CCDC146ENSG00000135205ENST00000285871p.V312Vc.936C>TSubstitution - coding silent
WIPF3ENSG00000122574ENST00000409290p.P346Pc.1038C>GSubstitution - coding silent
WIPF3ENSG00000122574ENST00000409123p.P346Pc.1038C>GSubstitution - coding silent
NFE2L3ENSG00000050344ENST00000056233p.R650Rc.1948A>CSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.K1080Rc.3239A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S4742Nc.14225G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S4671Nc.14012G>ASubstitution - Missense
ADGBENSG00000118492ENST00000397944p.I645Ic.1935A>TSubstitution - coding silent
NHSL1ENSG00000135540ENST00000343505p.D1339Dc.4017C>TSubstitution - coding silent
NPR3ENSG00000113389ENST00000265074p.A162Ac.486T>CSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.V2004Vc.6012C>ASubstitution - coding silent
HACL1ENSG00000131373ENST00000321169p.E496fs*2c.1486_1489delGAAADeletion - Frameshift
PLCH1ENSG00000114805ENST00000334686p.R801*c.2401C>TSubstitution - Nonsense
PLCH1ENSG00000114805ENST00000447496p.R819*c.2455C>TSubstitution - Nonsense
FGD5ENSG00000154783ENST00000285046p.V553Vc.1659G>TSubstitution - coding silent
STACENSG00000144681ENST00000273183p.P298Sc.892C>TSubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.C563Sc.1687T>ASubstitution - Missense
NEURL4ENSG00000215041ENST00000399464p.G1530Ec.4589G>ASubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.G1528Ec.4583G>ASubstitution - Missense
KIF19ENSG00000196169ENST00000389916p.H58Rc.173A>GSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.R1415*c.4243C>TSubstitution - Nonsense
USP11ENSG00000102226ENST00000218348p.Q397Kc.1189C>ASubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.N432Sc.1295A>GSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.K352*c.1054A>TSubstitution - Nonsense
CAPN13ENSG00000162949ENST00000295055p.R82Ic.245G>TSubstitution - Missense
HMGXB4ENSG00000100281ENST00000216106p.L291Lc.873G>ASubstitution - coding silent
SMTNENSG00000183963ENST00000333137p.P496Pc.1488G>ASubstitution - coding silent
ENST00000404496p.P488Pc.1464G>ASubstitution - coding silent
SLC5A4ENSG00000100191ENST00000266086p.A474Pc.1420G>CSubstitution - Missense
ZC3H18ENSG00000158545ENST00000301011p.D47fs*2c.139_146delGATCTGGADeletion - Frameshift
MVDENSG00000167508ENST00000301012p.V323Mc.967G>ASubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.I97Vc.289A>GSubstitution - Missense
MTHFSDENSG00000103248ENST00000322911p.A169Tc.505G>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.Q858*c.2572C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.R18236Lc.54707G>TSubstitution - Missense
ENST00000356127p.R24606Lc.73817G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R18303Lc.54908G>TSubstitution - Missense
NM_003319p.R18111Lc.54332G>TSubstitution - Missense
EBF4ENSG00000088881ENST00000380648p.V283Vc.849C>GSubstitution - coding silent
C20orf141ENSG00000258713ENST00000380589p.G90Gc.270T>GSubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.P1777Tc.5329C>ASubstitution - Missense
ENSG00000182319ENST00000330777p.N986Sc.2957A>GSubstitution - Missense
SU_SgK223p.N988Sc.2963A>GSubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.R780Hc.2339G>ASubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.G101Vc.302G>TSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.I488Ic.1464C>TSubstitution - coding silent
NUP153ENSG00000124789ENST00000262077p.S1393Sc.4179G>ASubstitution - coding silent
CAMKVENSG00000164076ENST00000477224p.T103Sc.307A>TSubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.T103Sc.307A>TSubstitution - Missense
NDUFAF3ENSG00000178057ENST00000326925p.D61Nc.181G>ASubstitution - Missense
KCTD8ENSG00000183783ENST00000360029p.A33Sc.97G>TSubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.N569Nc.1707C>TSubstitution - coding silent
KRTAP29-1ENSG00000212658ENST00000391353p.D283Vc.848A>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.P898Pc.2694G>ASubstitution - coding silent
ABCC11ENSG00000121270ENST00000356608p.Q485Kc.1453C>ASubstitution - Missense
AGO2ENSG00000123908ENST00000220592p.G827Gc.2481A>GSubstitution - coding silent
NM_002467.2p.D251Nc.751G>ASubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.C35Fc.104G>TSubstitution - Missense
NM_002847.2p.?c.2344+3A>GUnknown
PTPRN2ENSG00000155093ENST00000404321p.?c.2413+3A>GUnknown
EVC2ENSG00000173040ENST00000344408p.K434Nc.1302G>TSubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.R281Rc.843A>GSubstitution - coding silent
ZSWIM3ENSG00000132801ENST00000454862p.G570Dc.1709G>ASubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.?c.1404+6A>CUnknown
NPIPB5ENSG00000243716ENST00000424340p.A507Ac.1521G>CSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000237353p.?c.1448-5T>CUnknown
ENST00000331116p.A278Vc.833C>TSubstitution - Missense
OGDHENSG00000105953ENST00000443864p.R38Rc.114G>ASubstitution - coding silent
CNTNAP2ENSG00000174469ENST00000361727p.S511Pc.1531T>CSubstitution - Missense
SLC26A4ENSG00000091137ENST00000265715p.T256Mc.767C>TSubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.H604Qc.1812C>GSubstitution - Missense
TRIM27ENSG00000204713ENST00000377199p.R339Qc.1016G>ASubstitution - Missense
TRIM26ENSG00000234127ENST00000454678p.R44Hc.131G>ASubstitution - Missense
TRIM26ENSG00000234127ENST00000453195p.R44Hc.131G>ASubstitution - Missense
MAGEA6ENSG00000197172ENST00000329342p.L122delLc.361_363delCTCDeletion - In frame
RALAENSG00000006451ENST00000005257p.Q72Kc.214C>ASubstitution - Missense
SHKBP1ENSG00000160410ENST00000291842p.T388Sc.1162A>TSubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.P365Pc.1095C>TSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.K3083Ec.9247A>GSubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.V532Fc.1594G>TSubstitution - Missense
SARDHENSG00000123453ENST00000371872p.H452Qc.1356C>ASubstitution - Missense
ANKHENSG00000154122ENST00000284268p.G225Sc.673G>ASubstitution - Missense
MECOMENSG00000085276ENST00000392736p.?c.2040+3A>GUnknown
ZNF792ENSG00000180884ENST00000404801p.R278Rc.834A>GSubstitution - coding silent
MPOENSG00000005381ENST00000340482p.L54Lc.162G>CSubstitution - coding silent
RUNDC3AENSG00000108309ENST00000225441p.*406Yc.1218G>CNonstop extension
PTRFENSG00000177469ENST00000357037p.P163Pc.489G>ASubstitution - coding silent
HSD17B1ENSG00000108786ENST00000225929p.?c.266-4G>AUnknown
KRT16ENSG00000186832ENST00000301653p.G69Gc.207C>ASubstitution - coding silent
QPCTENSG00000115828ENST00000338415p.M167Ic.501G>TSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.L8Lc.22T>CSubstitution - coding silent
THEMISENSG00000172673ENST00000368248p.L245Lc.735C>TSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000337530p.D549Gc.1646A>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.H607Hc.1821C>TSubstitution - coding silent
EYSENSG00000188107ENST00000342421p.R587Kc.1760G>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.R587Kc.1760G>ASubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.R194Rc.582G>ASubstitution - coding silent
COL9A1ENSG00000112280ENST00000320755p.?c.183+2T>CUnknown
FAM135AENSG00000082269ENST00000418814p.R1472Hc.4415G>ASubstitution - Missense
FAM135AENSG00000082269ENST00000370479p.R1259Hc.3776G>ASubstitution - Missense
SMPD2ENSG00000135587ENST00000258052p.P268Pc.804C>TSubstitution - coding silent
ENST00000321784p.H70Nc.208C>ASubstitution - Missense
RASGRF2ENSG00000113319ENST00000265080p.D455Ec.1365C>ASubstitution - Missense
LECT2ENSG00000145826ENST00000274507p.C99fs*>53c.295delTDeletion - Frameshift
GRK4ENSG00000125388ENST00000398052p.G439Gc.1317A>GSubstitution - coding silent
F11ENSG00000088926ENST00000403665p.P400Pc.1200G>ASubstitution - coding silent
HRH1ENSG00000196639ENST00000397056p.H223Rc.668A>GSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.T747Sc.2239A>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.Y3865Yc.11595T>CSubstitution - coding silent
ENST00000344519_v61p.H386Rc.1157A>GSubstitution - Missense
C9orf141ENSG00000198454ENST00000371629p.?c.361-6G>AUnknown
CLDN4ENSG00000189143ENST00000340958p.L96Lc.288G>TSubstitution - coding silent
FBXL13ENSG00000161040ENST00000436908p.A184Vc.551C>TSubstitution - Missense
CCND3ENSG00000112576ENST00000372991p.P267fs*>10c.798_846del49Deletion - Frameshift
TRERF1ENSG00000124496ENST00000372922p.A253Sc.757G>TSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.?c.1445+9T>CUnknown
SLC26A8ENSG00000112053ENST00000355574p.R946Rc.2838G>ASubstitution - coding silent
STK38ENSG00000112079ENST00000229812p.A370Ac.1110T>ASubstitution - coding silent
CCDC125ENSG00000183323ENST00000396496p.*512fs?c.1535delADeletion - Frameshift
SHISA5ENSG00000164054ENST00000296444p.S82Ic.245G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.?c.288-9A>GUnknown
ACOX3ENSG00000087008ENST00000356406p.?c.873+8C>TUnknown
SKOR1ENSG00000188779ENST00000389002p.P768Sc.2302C>TSubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.P715Sc.2143C>TSubstitution - Missense
UACAENSG00000137831ENST00000322954p.Q184Kc.550C>ASubstitution - Missense
SELEENSG00000007908ENST00000333360p.S194Ic.581G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P3466fs*2c.10394_10395insGInsertion - Frameshift
KMT2DENSG00000167548ENST00000301067p.P3196fs*2c.9584_9585insGInsertion - Frameshift
ALDH2ENSG00000111275ENST00000261733p.E113Kc.337G>ASubstitution - Missense
MAPRE3ENSG00000084764ENST00000233121p.A179Pc.535G>CSubstitution - Missense
WWC2ENSG00000151718ENST00000403733p.R1041Cc.3121C>TSubstitution - Missense
ENST00000326605p.F46Yc.137T>ASubstitution - Missense
ENST00000326929p.I645Ic.1935A>TSubstitution - coding silent
C16orf70ENSG00000125149ENST00000219139p.Y348Yc.1044C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.T463Tc.1389G>ASubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.?c.1730+8C>TUnknown
ENTPD6ENSG00000197586ENST00000376652p.*485Qc.1453T>CNonstop extension
CPSF1ENSG00000071894ENST00000349769p.L14Vc.40C>GSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.P764Ac.2290C>GSubstitution - Missense
ZFP64ENSG00000020256ENST00000361387p.D227Dc.681C>TSubstitution - coding silent
SKOR1ENSG00000188779ENST00000380035p.H810Yc.2428C>TSubstitution - Missense
C1orf87ENSG00000162598ENST00000371201p.?c.342+1G>AUnknown
PRG4ENSG00000116690ENST00000445192p.P640Pc.1920C>TSubstitution - coding silent
CASP1ENSG00000137752ENST00000533400p.T230Mc.689C>TSubstitution - Missense
DNAJC3ENSG00000102580ENST00000376795p.A260Sc.778G>TSubstitution - Missense
PLEKHM3ENSG00000178385ENST00000427836p.R126Qc.377G>ASubstitution - Missense
FGF13ENSG00000129682ENST00000455663p.S143Tc.428G>CSubstitution - Missense
ENST00000381532_v70p.S299Sc.897C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.E450*c.1348G>TSubstitution - Nonsense
COL9A1ENSG00000112280ENST00000370499p.?c.183+2T>CUnknown
SLC22A7ENSG00000137204ENST00000372574p.P112Rc.335C>GSubstitution - Missense
ENST00000377164p.S36Yc.107C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.T463Tc.1389G>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.P989Lc.2966C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S4489Nc.13466G>ASubstitution - Missense
JAKMIP2ENSG00000176049ENST00000507386p.M693Ic.2079G>TSubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.V341Ic.1021G>ASubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.H387Rc.1160A>GSubstitution - Missense
WWC2ENSG00000151718ENST00000448232p.R1065Cc.3193C>TSubstitution - Missense
WWC2ENSG00000151718ENST00000508747p.R169Cc.505C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000494598p.R819*c.2455C>TSubstitution - Nonsense
MAP4K4ENSG00000071054ENST00000350878p.V813Ic.2437G>ASubstitution - Missense
NR2F2ENSG00000185551ENST00000421109p.S148Cc.443C>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.N367Dc.1099A>GSubstitution - Missense
C1orf177ENSG00000162398ENST00000371273p.?c.618+7C>TUnknown
SGIP1ENSG00000118473ENST00000237247p.P324Lc.971C>TSubstitution - Missense
EPHA10ENSG00000183317ENST00000319637p.S160Rc.480C>ASubstitution - Missense
RNF220ENSG00000187147ENST00000443020p.L32Pc.95T>CSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.R468Wc.1402C>TSubstitution - Missense
OR51L1ENSG00000176798ENST00000321543p.V45Vc.135T>CSubstitution - coding silent
NDST2ENSG00000166507ENST00000429742p.T20Tc.60C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
SLC22A7ENSG00000137204ENST00000372585p.P112Rc.335C>GSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.D1305Nc.3913G>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.G1319Gc.3957C>ASubstitution - coding silent
TMA16ENSG00000198498ENST00000358572p.I98Ic.294C>ASubstitution - coding silent
FAM198BENSG00000164125ENST00000393807p.W488Lc.1463G>TSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.R1129Hc.3386G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.G524Gc.1572G>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.G575Gc.1725G>TSubstitution - coding silent
RGS3ENSG00000138835ENST00000374140p.?c.415+8C>TUnknown
NM_144488.2p.?c.103+8C>TUnknown
TGENSG00000042832ENST00000220616p.L2507Lc.7521C>TSubstitution - coding silent
ZNF180ENSG00000167384ENST00000221327p.H295Nc.883C>ASubstitution - Missense
GUCY1A3ENSG00000164116ENST00000296518p.K195Kc.585G>ASubstitution - coding silent
MAP4K4ENSG00000071054ENST00000350198p.V756Ic.2266G>ASubstitution - Missense
HPENSG00000257017ENST00000355906p.A29Tc.85G>ASubstitution - Missense
SLC2A10ENSG00000197496ENST00000359271p.R105Rc.315C>TSubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.Q136*c.406C>TSubstitution - Nonsense
MPOENSG00000005381ENST00000225275p.L54Lc.162G>CSubstitution - coding silent
DSTENSG00000151914ENST00000244364p.P1144Hc.3431C>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.P1613Lc.4838C>TSubstitution - Missense
NM_152536.2p.V312Vc.936G>TSubstitution - coding silent
MTHFSDENSG00000103248ENST00000381214p.A170Tc.508G>ASubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.G602Rc.1804G>ASubstitution - Missense
MSR1ENSG00000038945ENST00000381998p.G101Vc.302G>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.S1382Sc.4146T>CSubstitution - coding silent
ID3ENSG00000117318ENST00000374561p.C118Cc.354C>TSubstitution - coding silent
URB2ENSG00000135763ENST00000258243p.V1318Vc.3954G>ASubstitution - coding silent
C10orf25ENSG00000165511ENST00000298298p.P39Pc.117C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
MMP9ENSG00000100985ENST00000372330p.A399Vc.1196C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.P1470Hc.4409C>ASubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.R819*c.2455C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.T456Tc.1368G>ASubstitution - coding silent
NM_145686p.V918Ic.2752G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.N404Nc.1212C>TSubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.G124Dc.371G>ASubstitution - Missense
TP53I13ENSG00000167543ENST00000301057p.V57Mc.169G>ASubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.L453Lc.1359C>TSubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.?c.658-3C>AUnknown
KIAA1324ENSG00000116299ENST00000369939p.G983Ec.2948G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.P1445_G1446insPc.4311_4312insCCGInsertion - In frame
OSBPL5ENSG00000021762ENST00000263650p.R338Qc.1013G>ASubstitution - Missense
FMO3ENSG00000007933ENST00000367755p.T329Tc.987A>CSubstitution - coding silent
TAS2R60ENSG00000185899ENST00000332690p.R186Qc.557G>ASubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.A253Sc.757G>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000424866p.K255Ec.763A>GSubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.V513Ic.1537G>ASubstitution - Missense
NM_002467.2p.L149Vc.445C>GSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.G576Dc.1727G>ASubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.V983Ic.2947G>ASubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.V504Lc.1510G>CSubstitution - Missense
DDX56ENSG00000136271ENST00000258772p.A317Vc.950C>TSubstitution - Missense
FCHO2ENSG00000157107ENST00000430046p.?c.1848-5T>CUnknown
GADL1ENSG00000144644ENST00000282538p.P141Tc.421C>ASubstitution - Missense
ENST00000398685p.L65Mc.193C>ASubstitution - Missense
TCEB3BENSG00000206181ENST00000332567p.A679Ac.2037G>ASubstitution - coding silent
NM_052947p.P1138Tc.3412C>ASubstitution - Missense
NM_020777.1p.V363Ic.1087G>ASubstitution - Missense
ENST00000399211p.A168Ac.504T>GSubstitution - coding silent
SOX13ENSG00000143842ENST00000367204p.M428Ic.1284G>CSubstitution - Missense
ENST00000316851_v65p.L159Lc.477G>CSubstitution - coding silent
NR2F2ENSG00000185551ENST00000394166p.S281Cc.842C>GSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.E68*c.202G>TSubstitution - Nonsense
INSRRENSG00000027644ENST00000368195p.P628Lc.1883C>TSubstitution - Missense
PINK1ENSG00000158828ENST00000321556p.T333Tc.999A>CSubstitution - coding silent
MYCENSG00000136997ENST00000377970p.C40Wc.120C>GSubstitution - Missense
NM_003319p.V1189Vc.3567G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.S4671Nc.14012G>ASubstitution - Missense
F11ENSG00000088926ENST00000264692p.P348Pc.1044G>ASubstitution - coding silent
PITPNM2ENSG00000090975ENST00000280562p.L599Lc.1797G>ASubstitution - coding silent
MYCENSG00000136997ENST00000377970p.L164Vc.490C>GSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.A507Ac.1521G>CSubstitution - coding silent
GPR85ENSG00000164604ENST00000297146p.R270Rc.810G>ASubstitution - coding silent
FGF13ENSG00000129682ENST00000370603p.S137Tc.410G>CSubstitution - Missense
ENST00000369020_v68p.V96Vc.288C>TSubstitution - coding silent
SCML4ENSG00000146285ENST00000369020p.V67Vc.201C>TSubstitution - coding silent
COL10A1ENSG00000123500ENST00000327673p.P301Rc.902C>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.H607Hc.1821C>TSubstitution - coding silent
MEA1ENSG00000124733ENST00000244711p.R5Rc.15G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S4742Nc.14225G>ASubstitution - Missense
BTBD17ENSG00000204347ENST00000375366p.A48Ac.144G>ASubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.K352*c.1054A>TSubstitution - Nonsense
XM_290799.5p.L918Lc.2754C>TSubstitution - coding silent
CES1ENSG00000198848ENST00000360526p.F241Vc.721T>GSubstitution - Missense
FEZF1ENSG00000128610ENST00000442488p.F77Fc.231C>TSubstitution - coding silent
KLK3ENSG00000142515ENST00000326003p.V60Ac.179T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E7862Kc.23584G>ASubstitution - Missense
MANSC4ENSG00000205693ENST00000381273p.S133Yc.398C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.L1232Lc.3696G>ASubstitution - coding silent
FLRT1ENSG00000126500ENST00000246841p.A431Tc.1291G>ASubstitution - Missense
GYS2ENSG00000111713ENST00000261195p.D454Nc.1360G>ASubstitution - Missense
TFDP1ENSG00000198176ENST00000375370p.K187delKc.554_556delAGADeletion - In frame
NRAPENSG00000197893ENST00000359988p.M851Tc.2552T>CSubstitution - Missense
KREMEN1ENSG00000183762ENST00000400335p.T140Tc.420G>ASubstitution - coding silent
TAPBPENSG00000231925ENST00000426633p.L66Lc.198C>TSubstitution - coding silent
OR11A1ENSG00000204694ENST00000377149p.E2Dc.6A>CSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.H1671Nc.5011C>ASubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.P70Lc.209C>TSubstitution - Missense
PIK3C3ENSG00000078142ENST00000262039p.K845Tc.2534A>CSubstitution - Missense
ENST00000505256p.P1573Tc.4717C>ASubstitution - Missense
ENST00000331986p.E3495Kc.10483G>ASubstitution - Missense
CGP_EPHA10.1p.S160Rc.480C>ASubstitution - Missense
ENST00000252900p.R175Pc.524G>CSubstitution - Missense
OPN5ENSG00000124818ENST00000371211p.T338Sc.1013C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
FGF13ENSG00000129682ENST00000315930p.S127Tc.380G>CSubstitution - Missense
ZNF212ENSG00000170260ENST00000335870p.A50Ac.150T>ASubstitution - coding silent
ZNF211ENSG00000121417ENST00000407202p.R199Rc.597A>GSubstitution - coding silent
MECOMENSG00000085276ENST00000264674p.?c.2235+3A>GUnknown
PLXNA1ENSG00000114554ENST00000393409p.R1548Qc.4643G>ASubstitution - Missense
CLIC3ENSG00000169583ENST00000494426p.T43Mc.128C>TSubstitution - Missense
NR2C2ENSG00000177463ENST00000323373p.N401Nc.1203C>TSubstitution - coding silent
GRIN2CENSG00000161509ENST00000293190p.C563Sc.1687T>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.E450*c.1348G>TSubstitution - Nonsense
GPR179ENSG00000188888ENST00000342292p.P762Sc.2284C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.P342Pc.1026C>TSubstitution - coding silent
TANC2ENSG00000170921ENST00000389520p.C1209fs*11c.3621delGDeletion - Frameshift
ENST00000398240p.Y776Yc.2328C>TSubstitution - coding silent
ENST00000446248_v68p.L337Lc.1011G>ASubstitution - coding silent
NPEPPSENSG00000141279ENST00000322157p.I452Fc.1354A>TSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000355341p.D356Dc.1068C>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000376104p.P820Lc.2459C>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.G49Rc.145G>CSubstitution - Missense
GAB2ENSG00000033327ENST00000361507p.R442Lc.1325G>TSubstitution - Missense
MLNRENSG00000102539ENST00000218721p.A225Tc.673G>ASubstitution - Missense
FAM198BENSG00000164125ENST00000296530p.W480Lc.1439G>TSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.H169Qc.507C>ASubstitution - Missense
GPSM1ENSG00000160360ENST00000354753p.T525Tc.1575C>ASubstitution - coding silent
BNC2ENSG00000173068ENST00000380672p.G1030Gc.3090G>ASubstitution - coding silent
SMTNENSG00000183963ENST00000358743p.P496Pc.1488G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R24608Lc.73823G>TSubstitution - Missense
ADRA1AENSG00000120907ENST00000380581p.W324Cc.972G>TSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.I1022Ic.3066C>ASubstitution - coding silent
NUDT17ENSG00000186364ENST00000334513p.C300Gc.898T>GSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.K1322Kc.3966G>ASubstitution - coding silent
NKAIN1ENSG00000084628ENST00000263693p.S133Gc.397A>GSubstitution - Missense
PYROXD2ENSG00000119943ENST00000370575p.V182Mc.544G>ASubstitution - Missense
NM_001380.2p.D1005Vc.3014A>TSubstitution - Missense
ENSG00000204038ENST00000356374p.S69Sc.207C>TSubstitution - coding silent
C14orf166ENSG00000087302ENST00000261700p.?c.186+5T>CUnknown
KIAA1217ENSG00000120549ENST00000376454p.Q661Qc.1983G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.P1443_G1444insPc.4305_4306insCCGInsertion - In frame
NKAIN1ENSG00000084628ENST00000373736p.S177Gc.529A>GSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.S1487Yc.4460C>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.P64Pc.192C>ASubstitution - coding silent
KIAA1462ENSG00000165757ENST00000375377p.T554Ac.1660A>GSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.L245Lc.735C>TSubstitution - coding silent
TFDP1ENSG00000198176ENST00000544902p.K92delKc.269_271delAGADeletion - In frame
NM_002467.2p.Y22Yc.66T>CSubstitution - coding silent
MYCENSG00000136997ENST00000377970p.D266Nc.796G>ASubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.D1005Vc.3014A>TSubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.?c.2012+1_2012+4delgtaaUnknown
GPR116ENSG00000069122ENST00000265417p.I1014Tc.3041T>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.P183Pc.549C>TSubstitution - coding silent
RNF43ENSG00000108375ENST00000407977p.T58Ac.172A>GSubstitution - Missense
SH3TC2ENSG00000169247ENST00000394358p.V299Mc.895G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.A1301Vc.3902C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.Y2614Yc.7842C>TSubstitution - coding silent
GNA13ENSG00000120063ENST00000439174p.?c.561+2T>CUnknown
EFCAB5ENSG00000176927ENST00000394835p.R377Qc.1130G>ASubstitution - Missense
MTG2ENSG00000101181ENST00000370823p.L43Lc.129G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S13501Yc.40502C>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.R1060Rc.3178C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376717p.K348Ec.1042A>GSubstitution - Missense
PMFBP1ENSG00000118557ENST00000537465p.?c.1463-5T>CUnknown
FSTL5ENSG00000168843ENST00000306100p.G83Gc.249G>ASubstitution - coding silent
SEPT1ENSG00000180096ENST00000571393p.Q351Hc.1053G>CSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.D1385Dc.4155C>TSubstitution - coding silent
DNAJA3ENSG00000103423ENST00000262375p.I97Vc.289A>GSubstitution - Missense
FOXH1ENSG00000160973ENST00000377317p.R121Rc.361C>ASubstitution - coding silent
PIWIL2ENSG00000197181ENST00000356766p.I684Ic.2052C>TSubstitution - coding silent
SKOR1ENSG00000188779ENST00000380035p.P812Sc.2434C>TSubstitution - Missense
ENSG00000258790ENST00000557565p.G332Rc.994G>ASubstitution - Missense
ENST00000338282p.L1456Fc.4368G>TSubstitution - Missense
VTCN1ENSG00000134258ENST00000369458p.A43Tc.127G>ASubstitution - Missense
ENST00000398860p.T2479Nc.7436C>ASubstitution - Missense
CELF3ENSG00000159409ENST00000290583p.T208Sc.623C>GSubstitution - Missense
KRT75ENSG00000170454ENST00000252245p.R29Cc.85C>TSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.P1270Rc.3809C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.T463Tc.1389G>ASubstitution - coding silent
XRCC2ENSG00000196584ENST00000359321p.A33Tc.97G>ASubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.L737Vc.2209C>GSubstitution - Missense
ZKSCAN3ENSG00000189298ENST00000377255p.V184Ic.550G>ASubstitution - Missense
WNT2ENSG00000105989ENST00000265441p.E341Qc.1021G>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.?c.912+2T>CUnknown
PLEKHA4ENSG00000105559ENST00000263265p.L399Lc.1195C>TSubstitution - coding silent
SMSENSG00000102172ENST00000404933p.V115Ac.344T>CSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.D2017Ec.6051C>ASubstitution - Missense
PRDM8ENSG00000152784ENST00000339711p.F26Fc.78T>CSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.A67Ac.201C>ASubstitution - coding silent
KIAA1432ENSG00000107036ENST00000381532p.S299Sc.897C>TSubstitution - coding silent
TTI1ENSG00000101407ENST00000373448p.R477Cc.1429C>TSubstitution - Missense
MBTPS1ENSG00000140943ENST00000343411p.V253Vc.759G>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P1819Pc.5457A>CSubstitution - coding silent
NPAS3ENSG00000151322ENST00000346562p.N480Kc.1440C>ASubstitution - Missense
CYP4B1ENSG00000142973ENST00000271153p.R106Cc.316C>TSubstitution - Missense
NCAM1ENSG00000149294ENST00000401611p.L168Lc.504G>CSubstitution - coding silent
MYH11ENSG00000133392ENST00000396324p.L1463Fc.4389G>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344938p.K434Nc.1302G>TSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.D208Dc.624C>TSubstitution - coding silent
FGF13ENSG00000129682ENST00000305414p.S74Tc.221G>CSubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.M514Ic.1542G>TSubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.A253Sc.757G>TSubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.I663Ic.1989C>ASubstitution - coding silent
SEMG2ENSG00000124157ENST00000372769p.L246Lc.738C>ASubstitution - coding silent
WDR24ENSG00000127580ENST00000293883p.L607Vc.1819C>GSubstitution - Missense
CBLL1ENSG00000105879ENST00000440859p.G324Gc.972T>GSubstitution - coding silent
IGLL5ENSG00000254709ENST00000526893p.P143Pc.429G>ASubstitution - coding silent
SUSD2ENSG00000099994ENST00000358321p.T660Pc.1978A>CSubstitution - Missense
SMSENSG00000102172ENST00000415881p.V19Ac.56T>CSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.K1080Rc.3239A>GSubstitution - Missense
ZBTB45ENSG00000119574ENST00000354590p.D208Dc.624C>TSubstitution - coding silent
ENST00000338885p.R390Rc.1170G>ASubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.I488Ic.1464C>TSubstitution - coding silent
FBF1ENSG00000188878ENST00000319129p.G83Sc.247G>ASubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.R134Hc.401G>ASubstitution - Missense
NPY4RENSG00000204174ENST00000395716p.P206Pc.618A>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.V1189Vc.3567G>TSubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.T1649fs*49c.4945_4946insAInsertion - Frameshift
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
NUP153ENSG00000124789ENST00000537253p.S1424Sc.4272G>ASubstitution - coding silent
DOPEY1ENSG00000083097ENST00000237163p.L8Lc.22T>CSubstitution - coding silent
TAPBPENSG00000231925ENST00000434618p.L66Lc.198C>TSubstitution - coding silent
OGDHENSG00000105953ENST00000222673p.R38Rc.114G>ASubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.F111Yc.332T>ASubstitution - Missense
JAKMIP2ENSG00000176049ENST00000265272p.M714Ic.2142G>TSubstitution - Missense
SH3TC2ENSG00000169247ENST00000515425p.V414Mc.1240G>ASubstitution - Missense
FAM149AENSG00000109794ENST00000356371p.T256Ac.766A>GSubstitution - Missense
ZNF688ENSG00000229809ENST00000395219p.P2Ac.4C>GSubstitution - Missense
KREMEN1ENSG00000183762ENST00000327813p.T140Tc.420G>ASubstitution - coding silent
BHLHE40ENSG00000134107ENST00000256495p.R274Rc.822G>ASubstitution - coding silent
CCDC151ENSG00000198003ENST00000356392p.E214*c.640G>TSubstitution - Nonsense
SGIP1ENSG00000118473ENST00000371037p.P320Lc.959C>TSubstitution - Missense
C15orf41ENSG00000186073ENST00000437989p.Q142Rc.425A>GSubstitution - Missense
NM_004284.2p.R468Wc.1402C>TSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.H1003Yc.3007C>TSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.K2407fs*2c.7220_7223delAGAADeletion - Frameshift
SLC22A7ENSG00000137204ENST00000449231p.P112Rc.335C>GSubstitution - Missense
MYCENSG00000136997ENST00000377970p.Y37Yc.111T>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.D1218Nc.3652G>ASubstitution - Missense
AGMOENSG00000187546ENST00000342526p.D356Vc.1067A>TSubstitution - Missense
LRRC61ENSG00000127399ENST00000323078p.S256Fc.767C>TSubstitution - Missense
ZFR2ENSG00000105278ENST00000262961p.R491Wc.1471C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.T456Tc.1368G>ASubstitution - coding silent
HIST1H2ADENSG00000196866ENST00000341023p.A104Pc.310G>CSubstitution - Missense
SU_Erk7p.L438Pc.1313T>CSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.?c.658-3C>AUnknown
ZFYVE19ENSG00000166140ENST00000336455p.D346Dc.1038C>TSubstitution - coding silent
C1orf177ENSG00000162398ENST00000358193p.?c.618+7C>TUnknown
DLG2ENSG00000150672ENST00000280241p.P754Lc.2261C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.P594Lc.1781C>TSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.N310fs*19c.929delADeletion - Frameshift
PRRC2CENSG00000117523ENST00000392078p.K1322Kc.3966G>ASubstitution - coding silent
NDNL2ENSG00000185115ENST00000332303p.P160Pc.480T>GSubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.P628Lc.1883C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.P1642Lc.4925C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000355636p.?c.1013-5T>CUnknown
ENST00000367790_v70p.V594Vc.1782T>CSubstitution - coding silent
SNAP47ENSG00000143740ENST00000315781p.R48Mc.143G>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.T2940Mc.8819C>TSubstitution - Missense
LIPGENSG00000101670ENST00000261292p.E154Kc.460G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.A67Ac.201C>ASubstitution - coding silent
RHPN2ENSG00000131941ENST00000254260p.V347Mc.1039G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E7862Kc.23584G>ASubstitution - Missense
MANSC4ENSG00000205693ENST00000381273p.S133Yc.398C>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.N499Kc.1497C>ASubstitution - Missense


COSMIC

5 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
MYCENSG00000136997ENST00000377970p.C40Wc.120C>GSubstitution - Missense23143597
RP1L1ENSG00000183638ENST00000382483p.P2271Rc.6812C>GSubstitution - Missense23143597
MYH7BENSG00000078814ENST00000262873p.M538fs*23c.1612_1613delATDeletion - Frameshift23143597
NM_002467.2p.C25Wc.75C>GSubstitution - Missense23143597
ARID1AENSG00000117713ENST00000324856p.T1649fs*49c.4945_4946insAInsertion - Frameshift23143597