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CP50-MEL-B - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

359 mutations reported
132 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
TCF3ENSG00000071564ENST00000262965p.A412Ac.1236C>TSubstitution - coding silent
PLEKHA7ENSG00000166689ENST00000355661p.G207Ec.620G>ASubstitution - Missense
NEK10ENSG00000163491ENST00000341435p.E379Kc.1135G>ASubstitution - Missense
PKD2L1ENSG00000107593ENST00000318222p.F240Lc.720C>GSubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.G126Rc.376G>ASubstitution - Missense
IPMKENSG00000151151ENST00000373935p.?c.191-5C>TUnknown
PRB2ENSG00000121335ENST00000389362p.G285Rc.853G>ASubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.?c.1666-3C>TUnknown
KIF21BENSG00000116852ENST00000332129p.E154Kc.460G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.R1771Rc.5313G>ASubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.S697Fc.2090C>TSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.F998Cc.2993T>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.G500Ec.1499G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.R145Rc.433A>CSubstitution - coding silent
EVC2ENSG00000173040ENST00000344408p.P1289Sc.3865C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.S1177Sc.3531T>GSubstitution - coding silent
VWFENSG00000110799ENST00000572068p.E127Kc.379G>ASubstitution - Missense
DCBLD2ENSG00000057019ENST00000326857p.?c.1087+2T>AUnknown
ENST00000272666p.G1769Gc.5307G>ASubstitution - coding silent
ENST00000402998p.E1047Ec.3141A>GSubstitution - coding silent
IL31RAENSG00000164509ENST00000447346p.E462Gc.1385A>GSubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.R138Mc.413G>TSubstitution - Missense
PTENENSG00000171862ENST00000371953p.P246fs*11c.736_737insAAInsertion - Frameshift
MTMR11ENSG00000014914ENST00000369140p.N418fs*80c.1253delADeletion - Frameshift
SARDHENSG00000123453ENST00000298628p.N158Ic.473A>TSubstitution - Missense
HRH3ENSG00000101180ENST00000317393p.R421Wc.1261C>TSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.H1369Yc.4105C>TSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.G753Ac.2258G>CSubstitution - Missense
PLXDC1ENSG00000161381ENST00000315392p.L67Mc.199C>ASubstitution - Missense
BTN3A1ENSG00000026950ENST00000289361p.S489Fc.1466C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.R1778Rc.5334G>ASubstitution - coding silent
ARPP21ENSG00000172995ENST00000428373p.D35Nc.103G>ASubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.L447Lc.1341C>TSubstitution - coding silent
ACSL3ENSG00000123983ENST00000357430p.L447Lc.1341C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.Y1135Yc.3405C>TSubstitution - coding silent
ENST00000375206p.S1250Sc.3750C>TSubstitution - coding silent
FOXN1ENSG00000109101ENST00000579795p.?c.700-9C>TUnknown
KLHL14ENSG00000197705ENST00000359358p.G466Rc.1396G>ASubstitution - Missense
ZNF2ENSG00000163067ENST00000340539p.P229Sc.685C>TSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.?c.3029-9C>TUnknown
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
PAX3ENSG00000135903ENST00000258387p.?c.451+9C>TUnknown
CDKN2AENSG00000147889ENST00000498124p.Y44fs*76c.128_129insTInsertion - Frameshift
CACNA1IENSG00000100346ENST00000404898p.S1799Lc.5396C>TSubstitution - Missense
ADIPOQENSG00000181092ENST00000320741p.Q188Qc.564G>ASubstitution - coding silent
HEATR5AENSG00000129493ENST00000404677p.I942Ic.2826C>TSubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.P170Sc.508C>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.P188Sc.562C>TSubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.S260Sc.780C>TSubstitution - coding silent
ENST00000268271p.Q276Hc.828G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L6566Vc.19696T>GSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.P131Pc.393C>ASubstitution - coding silent
KRT23ENSG00000108244ENST00000209718p.H217Lc.650A>TSubstitution - Missense
DCBLD2ENSG00000057019ENST00000326840p.?c.1087+2T>AUnknown
TRPM6ENSG00000119121ENST00000360774p.S12Sc.36C>TSubstitution - coding silent
LCA5ENSG00000135338ENST00000392959p.H283Yc.847C>TSubstitution - Missense
DNAAF3ENSG00000167646ENST00000455045p.T304Ic.911C>TSubstitution - Missense
AKAP10ENSG00000108599ENST00000225737p.L459Lc.1377A>GSubstitution - coding silent
CMSS1ENSG00000184220ENST00000421999p.A196Vc.587C>TSubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.R155*c.463C>TSubstitution - Nonsense
UNC79ENSG00000133958ENST00000553484p.E1483Kc.4447G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.G1924Ec.5771G>ASubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.S372Rc.1116T>ASubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.Q1313*c.3937C>TSubstitution - Nonsense
DSG4ENSG00000175065ENST00000359747p.G534Rc.1600G>ASubstitution - Missense
ENST00000405167p.T3054Sc.9161C>GSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.?c.1221-9C>GUnknown
MYO19ENSG00000141140ENST00000431794p.?c.2377+2T>GUnknown
LRRN3ENSG00000173114ENST00000308478p.V475Vc.1425C>TSubstitution - coding silent
ARPP21ENSG00000172995ENST00000458225p.D35Nc.103G>ASubstitution - Missense
ENST00000263817_v70p.I154Ic.462C>TSubstitution - coding silent
DCAKDENSG00000172992ENST00000310604p.?c.112+2T>GUnknown
TRPM6ENSG00000119121ENST00000449912p.S7Sc.21C>TSubstitution - coding silent
SU_NEK10p.E379Kc.1135G>ASubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.R51Kc.152G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E24932Kc.74794G>ASubstitution - Missense
DDNENSG00000181418ENST00000421952p.V105Vc.315C>TSubstitution - coding silent
NPAP1ENSG00000185823ENST00000329468p.R14Hc.41G>ASubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.I936Ic.2808C>TSubstitution - coding silent
DNAAF3ENSG00000167646ENST00000391720p.T405Ic.1214C>TSubstitution - Missense
PIK3R4ENSG00000196455ENST00000356763p.F273Fc.819C>TSubstitution - coding silent
CDKN2AENSG00000147889ENST00000304494p.Y44fs*76c.128_129insTInsertion - Frameshift
TNK2ENSG00000061938ENST00000381916p.K105Kc.315G>ASubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.F93Fc.279C>TSubstitution - coding silent
CDK13ENSG00000065883ENST00000181839p.R423Cc.1267C>TSubstitution - Missense
CCDC160ENSG00000203952ENST00000517294p.I67Vc.199A>GSubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.I373Ic.1119C>TSubstitution - coding silent
IL16ENSG00000172349ENST00000302987p.S391Fc.1172C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.E379Kc.1135G>ASubstitution - Missense
SLC24A3ENSG00000185052ENST00000328041p.E410Kc.1228G>ASubstitution - Missense
ARMC4ENSG00000169126ENST00000305242p.G215Ec.644G>ASubstitution - Missense
KCNK2ENSG00000082482ENST00000444842p.R346Qc.1037G>ASubstitution - Missense
KRTAP5-7ENSG00000244411ENST00000398536p.G66Sc.196G>ASubstitution - Missense
MTMR11ENSG00000014914ENST00000439741p.N490fs*80c.1469delADeletion - Frameshift
TOP2BENSG00000077097ENST00000435706p.I305Tc.914T>CSubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.G126Rc.376G>ASubstitution - Missense
OR5AN1ENSG00000176495ENST00000313940p.I209Rc.626T>GSubstitution - Missense
SDPRENSG00000168497ENST00000304141p.Q12*c.34C>TSubstitution - Nonsense
ENST00000383834p.G15Gc.45A>GSubstitution - coding silent
FYCO1ENSG00000163820ENST00000296137p.S1393Sc.4179C>TSubstitution - coding silent
MARVELD3ENSG00000140832ENST00000268485p.A243Tc.727G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000316664p.K42Kc.126G>ASubstitution - coding silent
ENST00000421660p.S471Sc.1413C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.R145Rc.433A>CSubstitution - coding silent
APBB1IPENSG00000077420ENST00000376236p.Q464Kc.1390C>ASubstitution - Missense
SDE2ENSG00000143751ENST00000272091p.P263Pc.789C>ASubstitution - coding silent
KCNK2ENSG00000082482ENST00000391894p.R331Qc.992G>ASubstitution - Missense
POLEENSG00000177084ENST00000320574p.?c.4445-9C>TUnknown
VWFENSG00000110799ENST00000261405p.E90Kc.268G>ASubstitution - Missense
NRXN2ENSG00000110076ENST00000301894p.Q194Qc.582G>ASubstitution - coding silent
KLHL14ENSG00000197705ENST00000359358p.A465Ac.1395G>ASubstitution - coding silent
CACNA1AENSG00000141837ENST00000360228p.P1861Tc.5581C>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.A710Pc.2128G>CSubstitution - Missense
ENST00000318130_v70p.R450Cc.1348C>TSubstitution - Missense
DNAAF3ENSG00000167646ENST00000527223p.T425Ic.1274C>TSubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.G232Rc.694G>ASubstitution - Missense
CAMK1ENSG00000134072ENST00000256460p.P217Sc.649C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E18627Kc.55879G>ASubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.Q1240Qc.3720G>ASubstitution - coding silent
LILRA4ENSG00000239961ENST00000291759p.?c.656-7C>TUnknown
DSG4ENSG00000175065ENST00000308128p.G534Rc.1600G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E12156Kc.36466G>ASubstitution - Missense
ADAM22ENSG00000008277ENST00000398209p.?c.1221-9C>GUnknown
DCHS2ENSG00000197410ENST00000357232p.D112Nc.334G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P4236Sc.12706C>TSubstitution - Missense
ENST00000356127p.E24930Kc.74788G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.G3378Gc.10134A>GSubstitution - coding silent
TPRENSG00000047410ENST00000367478p.R609Hc.1826G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.E58Kc.172G>ASubstitution - Missense
PDYNENSG00000101327ENST00000217305p.L74Fc.220C>TSubstitution - Missense
ENST00000357018p.P1862Tc.5584C>ASubstitution - Missense
CTC1ENSG00000178971ENST00000315684p.G923Rc.2767G>ASubstitution - Missense
SLC25A12ENSG00000115840ENST00000422440p.Y382Fc.1145A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
SSX5ENSG00000165583ENST00000311798p.?c.308-8C>TUnknown
CCDC170ENSG00000120262ENST00000239374p.E527Ec.1581G>ASubstitution - coding silent
DIAPH1ENSG00000131504ENST00000398557p.S785Fc.2354C>TSubstitution - Missense
ENST00000256343_v70p.R155*c.463C>TSubstitution - Nonsense
TRPM6ENSG00000119121ENST00000359047p.S12Sc.36C>TSubstitution - coding silent
PIK3CBENSG00000051382ENST00000477593p.Y638*c.1914T>ASubstitution - Nonsense
ENST00000313194p.V51Vc.153C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
CUBNENSG00000107611ENST00000377833p.T1309Ic.3926C>TSubstitution - Missense
ENST00000395293p.H330Yc.988C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.E106Dc.318A>CSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.R1708Mc.5123G>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.Q821*c.2461C>TSubstitution - Nonsense
LRP2ENSG00000081479ENST00000263816p.E2308Kc.6922G>ASubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.I154Ic.462C>TSubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.R749Cc.2245C>TSubstitution - Missense
SLAENSG00000155926ENST00000427060p.P186Lc.557C>TSubstitution - Missense
SLAENSG00000155926ENST00000338087p.P146Lc.437C>TSubstitution - Missense
C5ENSG00000106804ENST00000223642p.E764Kc.2290G>ASubstitution - Missense
YEATS2ENSG00000163872ENST00000305135p.S471Sc.1413C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.S1177Sc.3531T>GSubstitution - coding silent
GMNCENSG00000205835ENST00000442080p.S133Fc.398C>TSubstitution - Missense
IL31RAENSG00000164509ENST00000396836p.E462Gc.1385A>GSubstitution - Missense
SGTBENSG00000197860ENST00000381007p.P116Lc.347C>TSubstitution - Missense
TTBK1ENSG00000146216ENST00000259750p.L998Lc.2992C>TSubstitution - coding silent
TINAGENSG00000137251ENST00000259782p.I464Ic.1392C>TSubstitution - coding silent
CYB5R4ENSG00000065615ENST00000369679p.R79Cc.235C>TSubstitution - Missense
APOBRENSG00000184730ENST00000564831p.E361Dc.1083G>CSubstitution - Missense
ARMC4ENSG00000169126ENST00000434029p.G109Ec.326G>ASubstitution - Missense
HYOU1ENSG00000149428ENST00000543287p.?c.1405-3C>TUnknown
KIF21BENSG00000116852ENST00000422435p.E154Kc.460G>ASubstitution - Missense
KCNK2ENSG00000082482ENST00000391895p.R342Qc.1025G>ASubstitution - Missense
SPTBENSG00000070182ENST00000542895p.E948Gc.2843A>GSubstitution - Missense
EML5ENSG00000165521ENST00000352093p.D1324Dc.3972C>TSubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.E948Gc.2843A>GSubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.Y1135Yc.3405C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.L18Lc.54C>TSubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.T605Tc.1815G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.S1840Lc.5519C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.S1799Lc.5396C>TSubstitution - Missense
ENST00000405167p.L3457Vc.10369C>GSubstitution - Missense
KIAA1407ENSG00000163617ENST00000545063p.Q222delQc.665_667delAACDeletion - In frame
IL31RAENSG00000164509ENST00000359040p.E462Gc.1385A>GSubstitution - Missense
MYO6ENSG00000196586ENST00000369981p.?c.1984-7T>CUnknown
MTSS1ENSG00000170873ENST00000378017p.R724Cc.2170C>TSubstitution - Missense
SARDHENSG00000123453ENST00000371867p.N69Ic.206A>TSubstitution - Missense
NM_003319p.E18435Kc.55303G>ASubstitution - Missense
RIPK1ENSG00000137275ENST00000259808p.K396Kc.1188A>GSubstitution - coding silent
ZFYVE1ENSG00000165861ENST00000556143p.S599Fc.1796C>TSubstitution - Missense
ENST00000331986p.L2199Vc.6595T>GSubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.Q114*c.340C>TSubstitution - Nonsense
MGAMENSG00000257335ENST00000475668p.?c.3693+5G>AUnknown
ZNF528ENSG00000167555ENST00000360465p.Y605*c.1815C>ASubstitution - Nonsense
CPB1ENSG00000153002ENST00000282957p.P313Lc.938C>TSubstitution - Missense
SRP19ENSG00000153037ENST00000505459p.Y68Hc.202T>CSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.?c.1221-9C>GUnknown
MYO7BENSG00000169994ENST00000428314p.G1526Gc.4578G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.R145Rc.433A>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.E772Ec.2316A>GSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.L797Fc.2391G>TSubstitution - Missense
NLRP9ENSG00000185792ENST00000590200p.S218Fc.653C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L3457Vc.10369C>GSubstitution - Missense
CPDENSG00000108582ENST00000225719p.R988Cc.2962C>TSubstitution - Missense
NM_133170.2p.T605Tc.1815G>ASubstitution - coding silent
NM_152608.2p.P251Pc.753C>ASubstitution - coding silent
ADPRHL1ENSG00000153531ENST00000375418p.R194Kc.581G>ASubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.R1265Rc.3795G>ASubstitution - coding silent
DSG3ENSG00000134757ENST00000257189p.L998Lc.2992C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.K42Kc.126G>ASubstitution - coding silent
DCHS2ENSG00000197410ENST00000339452p.D718Nc.2152G>ASubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.?c.1427-1G>AUnknown
PALM3ENSG00000187867ENST00000340790p.V298Vc.894C>TSubstitution - coding silent
COL21A1ENSG00000124749ENST00000535941p.G500Ec.1499G>ASubstitution - Missense
AVPR1BENSG00000198049ENST00000367126p.F192Fc.576C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.G1939Ec.5816G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2226Hc.6677T>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.?c.3693+5G>AUnknown
MGAMENSG00000257335ENST00000549489p.?c.3693+5G>AUnknown
ENSG00000173213ENST00000308911p.T113Tc.339G>ASubstitution - coding silent
TMC2ENSG00000149488ENST00000358864p.F583Fc.1749C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.E5784Kc.17350G>ASubstitution - Missense
ENST00000356127p.E12156Kc.36466G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E5851Kc.17551G>ASubstitution - Missense
TMEM214ENSG00000119777ENST00000238788p.?c.721-4T>CUnknown
PTPRSENSG00000105426ENST00000357368p.L18Lc.54C>TSubstitution - coding silent
FPR1ENSG00000171051ENST00000304748p.G89Rc.265G>ASubstitution - Missense
ENST00000405167p.L2226Hc.6677T>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A3054Gc.9161C>GSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.L53Lc.159C>TSubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.L53Lc.159C>TSubstitution - coding silent
DNAI2ENSG00000171595ENST00000311014p.?c.865-6C>AUnknown
ARPP21ENSG00000172995ENST00000187397p.D35Nc.103G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.R2328Rc.6984G>ASubstitution - coding silent
PRDM9ENSG00000164256ENST00000296682p.G156Rc.466G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.Y1174fs*7c.3518_3519insAInsertion - Frameshift
PAX3ENSG00000135903ENST00000392069p.?c.451+9C>TUnknown
PAX3ENSG00000135903ENST00000409828p.?c.451+9C>TUnknown
ACKR3ENSG00000144476ENST00000272928p.S15Lc.44C>TSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.R825Wc.2473C>TSubstitution - Missense
TTLL12ENSG00000100304ENST00000216129p.?c.1035-7C>TUnknown
BRD1ENSG00000100425ENST00000342989p.A305Pc.913G>CSubstitution - Missense
ATRIPENSG00000164053ENST00000320211p.G444Rc.1330G>ASubstitution - Missense
IFNA4ENSG00000236637ENST00000421715p.R56Kc.167G>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000446177p.Y44fs*76c.128_129insTInsertion - Frameshift
KIAA1407ENSG00000163617ENST00000295878p.Q391delQc.1172_1174delAACDeletion - In frame
CNTN6ENSG00000134115ENST00000446702p.W443*c.1329G>ASubstitution - Nonsense
ACSL1ENSG00000151726ENST00000281455p.E503Kc.1507G>ASubstitution - Missense
TERTENSG00000164362ENST00000310581p.F1032Fc.3096C>TSubstitution - coding silent
NM_198255.1p.F1020Fc.3060C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.F93Fc.279C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.S1834Lc.5501C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.G500Ec.1499G>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.K521Kc.1563G>ASubstitution - coding silent
MYO6ENSG00000196586ENST00000369977p.?c.1984-7T>CUnknown
CYB5R4ENSG00000065615ENST00000369681p.R113Cc.337C>TSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.?c.2377+2T>GUnknown
NRXN1ENSG00000179915ENST00000406316p.R145Rc.433A>CSubstitution - coding silent
DCAKDENSG00000172992ENST00000342350p.?c.112+2T>GUnknown
LPOENSG00000167419ENST00000262290p.P326Lc.977C>TSubstitution - Missense
LPOENSG00000167419ENST00000262290p.P326Pc.978C>TSubstitution - coding silent
ZNF599ENSG00000153896ENST00000329285p.?c.242-7C>TUnknown
PCDHGA12ENSG00000253159ENST00000252085p.F704Fc.2112C>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.F704Fc.2112C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000371872p.N158Ic.473A>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.S12Sc.36C>TSubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.G300Rc.898G>ASubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.P733Sc.2197C>TSubstitution - Missense
ENST00000377143p.P127Lc.380C>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.?c.2383+4A>CUnknown
RIMS2ENSG00000176406ENST00000436393p.M876Ic.2628G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.E980Ec.2940A>GSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.E758Ec.2274A>GSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.E772Ec.2316A>GSubstitution - coding silent
PALM3ENSG00000187867ENST00000340790p.G470Ec.1409G>ASubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.G265Dc.794G>ASubstitution - Missense
TCF3ENSG00000071564ENST00000344749p.A412Ac.1236C>TSubstitution - coding silent
PLVAPENSG00000130300ENST00000252590p.G15Gc.45G>ASubstitution - coding silent
PLVAPENSG00000130300ENST00000252590p.G15Ec.44G>ASubstitution - Missense
IRGCENSG00000124449ENST00000244314p.S141Pc.421T>CSubstitution - Missense
LPIN3ENSG00000132793ENST00000373257p.?c.1952+8C>AUnknown
ENST00000576222_v68p.S260Sc.780C>TSubstitution - coding silent
KCNH1ENSG00000143473ENST00000271751p.T509Tc.1527C>TSubstitution - coding silent
ALDH2ENSG00000111275ENST00000261733p.R51Kc.152G>ASubstitution - Missense
OR8B2ENSG00000204293ENST00000375013p.V222Vc.666C>TSubstitution - coding silent
PRDM11ENSG00000019485ENST00000263765p.H276Hc.828C>TSubstitution - coding silent
SCNN1AENSG00000111319ENST00000228916p.G173Dc.518G>ASubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.H564Rc.1691A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.P3750Sc.11248C>TSubstitution - Missense
SU_OBSCN.1p.P3620Sc.10858C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.P3566Sc.10696C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.P3849Sc.11545C>TSubstitution - Missense
IRF2BP2ENSG00000168264ENST00000366609p.Q98_L99insQc.278_279insGCAInsertion - In frame
POLEENSG00000177084ENST00000320574p.?c.4445-9C>TUnknown
KMT2DENSG00000167548ENST00000301067p.P4506Sc.13516C>TSubstitution - Missense
METTL12ENSG00000214756ENST00000532971p.L8Ic.22C>ASubstitution - Missense
RCE1ENSG00000173653ENST00000309657p.G98Cc.292G>TSubstitution - Missense
DLGAP3ENSG00000116544ENST00000373347p.D877Hc.2629G>CSubstitution - Missense
GABRG3ENSG00000182256ENST00000333743p.P346Lc.1037C>TSubstitution - Missense
EDEM3ENSG00000116406ENST00000318130p.R407Cc.1219C>TSubstitution - Missense
CCT2ENSG00000166226ENST00000299300p.A523Ac.1569G>ASubstitution - coding silent
NXPE1ENSG00000095110ENST00000251921p.D373Nc.1117G>ASubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.D515Nc.1543G>ASubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.P1836Sc.5506C>TSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.N409Dc.1225A>GSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.H669Yc.2005C>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.S2995Fc.8984C>TSubstitution - Missense
HPXENSG00000110169ENST00000265983p.G354Gc.1062G>ASubstitution - coding silent
PRB2ENSG00000121335ENST00000389362p.G306Rc.916G>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.T1915Tc.5745C>TSubstitution - coding silent
MRPS21ENSG00000187145ENST00000309092p.R42Wc.124C>TSubstitution - Missense
ENST00000389961_v65p.I936Ic.2808C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.G1845Ec.5534G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.S376Fc.1127C>TSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.S264Fc.791C>TSubstitution - Missense
HCN3ENSG00000143630ENST00000368358p.P741Lc.2222C>TSubstitution - Missense
AVPR1BENSG00000198049ENST00000367126p.P193Sc.577C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.P134Lc.401C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.P658Lc.1973C>TSubstitution - Missense
OR14K1ENSG00000153230ENST00000283225p.K189Tc.566A>CSubstitution - Missense
EML5ENSG00000165521ENST00000554922p.D1370Dc.4110C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.E1284Kc.3850G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.G1740Ec.5219G>ASubstitution - Missense
RBPMS2ENSG00000166831ENST00000300069p.P95Lc.284C>TSubstitution - Missense
C7ENSG00000112936ENST00000313164p.M717Ic.2151G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L6566Vc.19696T>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T4956Ic.14867C>TSubstitution - Missense
ENST00000356127p.T4956Ic.14867C>TSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.S654Fc.1961C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G13045Dc.39134G>ASubstitution - Missense
ENST00000380947p.G197Dc.590G>ASubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.G333Gc.999C>ASubstitution - coding silent
NDRG3ENSG00000101079ENST00000349004p.D204Nc.610G>ASubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.Q487Qc.1461G>ASubstitution - coding silent
HRH3ENSG00000101180ENST00000340177p.R421Wc.1261C>TSubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.G568Sc.1702G>ASubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.S372Rc.1116T>ASubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.S1279Sc.3837C>TSubstitution - coding silent
DSG4ENSG00000175065ENST00000359747p.G534Ec.1601G>ASubstitution - Missense
DSG4ENSG00000175065ENST00000308128p.G534Ec.1601G>ASubstitution - Missense
ENST00000360228_v70p.P1861Tc.5581C>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000310645p.P110Sc.328C>TSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.P110Sc.328C>TSubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.P110Sc.328C>TSubstitution - Missense
GABRB1ENSG00000163288ENST00000295454p.S76Fc.227C>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
SUFUENSG00000107882ENST00000369902p.F197Fc.591C>TSubstitution - coding silent
ENST00000279593p.G1449Ec.4346G>ASubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.S554Fc.1661C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.K42Kc.126G>ASubstitution - coding silent
NM_004440p.G232Rc.694G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.Y1174fs*7c.3518_3519insAInsertion - Frameshift
NM_003319p.E5659Kc.16975G>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.K521Kc.1563G>ASubstitution - coding silent
GSE1ENSG00000131149ENST00000253458p.Y724Yc.2172C>TSubstitution - coding silent
NM_172217.1p.S391Fc.1172C>TSubstitution - Missense
DKK2ENSG00000155011ENST00000285311p.S222Fc.665C>TSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.G289Ec.866G>ASubstitution - Missense
NLRP9ENSG00000185792ENST00000332836p.S218Fc.653C>TSubstitution - Missense
ZC4H2ENSG00000126970ENST00000374839p.P150Pc.450C>ASubstitution - coding silent
APOBRENSG00000184730ENST00000328423p.E352Dc.1056G>CSubstitution - Missense
SLC41A3ENSG00000114544ENST00000383598p.V43Vc.129C>TSubstitution - coding silent
DAGLBENSG00000164535ENST00000297056p.T38Tc.114G>ASubstitution - coding silent
ZP1ENSG00000149506ENST00000278853p.R504Qc.1511G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E18560Kc.55678G>ASubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.S554Fc.1661C>TSubstitution - Missense


COSMIC

43 mutations reported
14 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
MCM2ENSG00000073111ENST00000265056p.R825Wc.2473C>TSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.R825Wc.2473C>TSubstitution - Missense
CAMK1ENSG00000134072ENST00000256460p.P217Sc.649C>TSubstitution - Missense
CAMK1ENSG00000134072ENST00000256460p.P217Sc.649C>TSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.Y638*c.1914T>ASubstitution - Nonsense
PIK3CBENSG00000051382ENST00000477593p.Y638*c.1914T>ASubstitution - Nonsense
NM_207378.1p.L99Lc.297C>TSubstitution - coding silent
CCDC160ENSG00000203952ENST00000517294p.I67Vc.199A>GSubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.I373Ic.1119C>TSubstitution - coding silent
EIF2AK4ENSG00000128829ENST00000263791p.I373Ic.1119C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.P4236Sc.12706C>TSubstitution - Missense
AKAP10ENSG00000108599ENST00000225737p.L459Lc.1377A>GSubstitution - coding silent
NM_133170.2p.T605Tc.1815G>ASubstitution - coding silent
GSE1ENSG00000131149ENST00000253458p.Y724Yc.2172C>TSubstitution - coding silent
ACKR3ENSG00000144476ENST00000272928p.S15Lc.44C>TSubstitution - Missense
RIPK1ENSG00000137275ENST00000259808p.K396Kc.1188A>GSubstitution - coding silent
RIPK1ENSG00000137275ENST00000259808p.K396Kc.1188A>GSubstitution - coding silent
NM_003319p.E18435Kc.55303G>ASubstitution - Missense
NM_003319p.E18435Kc.55303G>ASubstitution - Missense
NM_172217.1p.S391Fc.1172C>TSubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.R51Kc.152G>ASubstitution - Missense
SU_NEK10p.E379Kc.1135G>ASubstitution - Missense
SU_NEK10p.E379Kc.1135G>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.K521Kc.1563G>ASubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.Y1174fs*7c.3518_3519insAInsertion - Frameshift
ROCK2ENSG00000134318ENST00000315872p.Y1174fs*7c.3518_3519insAInsertion - Frameshift
XM_210826.5p.T81Tc.243C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.K42Kc.126G>ASubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.K42Kc.126G>ASubstitution - coding silent
ENST00000279593p.G1449Ec.4346G>ASubstitution - Missense
NM_003319p.E5659Kc.16975G>ASubstitution - Missense
NM_003319p.E5659Kc.16975G>ASubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.S554Fc.1661C>TSubstitution - Missense
NM_004440p.G232Rc.694G>ASubstitution - Missense
NM_004440p.G232Rc.694G>ASubstitution - Missense
DKK2ENSG00000155011ENST00000285311p.S222Fc.665C>TSubstitution - Missense
TCF3ENSG00000071564ENST00000262965p.A412Ac.1236C>TSubstitution - coding silent
PLEKHA7ENSG00000166689ENST00000355661p.G207Ec.620G>ASubstitution - Missense
APBB1IPENSG00000077420ENST00000376236p.Q464Kc.1390C>ASubstitution - Missense
XM_066484.1p.G366Gc.1098G>ASubstitution - coding silent