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J82 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

372 mutations reported
126 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
KMT2CENSG00000055609ENST00000262189p.G1517Rc.4549G>ASubstitution - Missense
EPC1ENSG00000120616ENST00000263062p.R547Tc.1640G>CSubstitution - Missense
PSDENSG00000059915ENST00000020673p.A232Vc.695C>TSubstitution - Missense
MNTENSG00000070444ENST00000174618p.Q19*c.55C>TSubstitution - Nonsense
KRTAP9-1ENSG00000240542ENST00000398470p.T2Ic.5C>TSubstitution - Missense
ZFYVE28ENSG00000159733ENST00000290974p.F164Lc.492C>GSubstitution - Missense
TAPT1ENSG00000169762ENST00000405303p.S303*c.908C>GSubstitution - Nonsense
LMBR1ENSG00000105983ENST00000354505p.L63Lc.187T>CSubstitution - coding silent
PTPRDENSG00000153707ENST00000397617p.I44Ic.132C>TSubstitution - coding silent
NM_002779.2p.A17Vc.50C>TSubstitution - Missense
SU_LRRK2p.E1190*c.3568G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.E271Kc.811G>ASubstitution - Missense
CD1DENSG00000158473ENST00000368171p.R264Rc.790C>ASubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.L252Mc.754C>ASubstitution - Missense
XM_371214.3p.?c.1293+3C>GUnknown
CITENSG00000122966ENST00000261833p.S1344Lc.4031C>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.L959Mc.2875C>ASubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.Q388Lc.1163A>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.F1708Lc.5124C>GSubstitution - Missense
ZNF580ENSG00000213015ENST00000325333p.R12Gc.34C>GSubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.L320Lc.958T>CSubstitution - coding silent
BIN1ENSG00000136717ENST00000259238p.V89Vc.267G>TSubstitution - coding silent
RPF2ENSG00000197498ENST00000441448p.L238Fc.714A>CSubstitution - Missense
CHAF1AENSG00000167670ENST00000301280p.E788Dc.2364G>CSubstitution - Missense
PELOENSG00000152684ENST00000274311p.R214Mc.641G>TSubstitution - Missense
XM_375718.1p.Y128Yc.384C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000357654p.S114Tc.340T>ASubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.Q60Ec.178C>GSubstitution - Missense
PPP1CAENSG00000172531ENST00000376745p.Q49Ec.145C>GSubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.E1190*c.3568G>TSubstitution - Nonsense
CITENSG00000122966ENST00000392521p.S1386Lc.4157C>TSubstitution - Missense
OSBPL9ENSG00000117859ENST00000447887p.S352Cc.1055C>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.V2101Vc.6303C>ASubstitution - coding silent
PIGZENSG00000119227ENST00000412723p.L418Lc.1254C>TSubstitution - coding silent
ATOH1ENSG00000172238ENST00000306011p.G247Gc.741C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.T115Ac.343A>GSubstitution - Missense
GCM2ENSG00000124827ENST00000379491p.A57Ac.171A>TSubstitution - coding silent
ATP10BENSG00000118322ENST00000327245p.D970Hc.2908G>CSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.R1067Lc.3200G>TSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.E367Ec.1101G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.E271Kc.811G>ASubstitution - Missense
ENST00000378024_v70p.I5196Vc.15586A>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.K320Nc.960G>CSubstitution - Missense
ZNF571ENSG00000180479ENST00000328550p.Q464Ec.1390C>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.I5196Vc.15586A>GSubstitution - Missense
C1orf112ENSG00000000460ENST00000286031p.L563Lc.1689G>CSubstitution - coding silent
OSBPL9ENSG00000117859ENST00000447887p.S352Cc.1055C>GSubstitution - Missense
OSBPL9ENSG00000117859ENST00000361556p.S232Cc.695C>GSubstitution - Missense
TMTC1ENSG00000133687ENST00000256062p.I11Tc.32T>CSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.?c.3921+10G>AUnknown
MUC16ENSG00000181143ENST00000380951p.T108Tc.324T>GSubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.P760Pc.2280G>ASubstitution - coding silent
CREB3ENSG00000107175ENST00000353704p.G340Sc.1018G>ASubstitution - Missense
FZD1ENSG00000157240ENST00000287934p.I323Tc.968T>CSubstitution - Missense
ZNF12ENSG00000164631ENST00000405858p.E65Qc.193G>CSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.S1236Tc.3706T>ASubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.C520Sc.1559G>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.S265Cc.793A>TSubstitution - Missense
ENST00000319379p.S846Nc.2537G>ASubstitution - Missense
NUDCD3ENSG00000015676ENST00000355451p.H71Qc.213C>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.S901Nc.2702G>ASubstitution - Missense
ENSG00000150076ENST00000375025p.H16Rc.47A>GSubstitution - Missense
SU_CRIKp.S1372Lc.4115C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.I44Ic.132C>TSubstitution - coding silent
ADCY10ENSG00000143199ENST00000367851p.?c.2717-6C>AUnknown
TP53ENSG00000141510ENST00000269305p.K320Nc.960G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T13423Tc.40269T>GSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.D947Dc.2841C>TSubstitution - coding silent
PRLRENSG00000113494ENST00000231423p.M232Vc.694A>GSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense
ENSG00000150076ENST00000302316p.H16Rc.47A>GSubstitution - Missense
MAN1C1ENSG00000117643ENST00000374332p.L27Lc.81C>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.K2767Tc.8300A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.V2055Vc.6165C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.?c.783-8_920-27del211Unknown
KCNU1ENSG00000215262ENST00000399881p.E1006Kc.3016G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G1932Vc.5795G>TSubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.S350Cc.1049C>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.E3009Dc.9027G>CSubstitution - Missense
ACSS1ENSG00000154930ENST00000537502p.?c.998-1G>AUnknown
FREM2ENSG00000150893ENST00000280481p.A777Ac.2331C>GSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.G178fs*13c.533delGDeletion - Frameshift
PTGDRENSG00000168229ENST00000306051p.R147Hc.440G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K2721Tc.8162A>CSubstitution - Missense
NM_003319p.K2721Tc.8162A>CSubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.L511Qc.1532T>ASubstitution - Missense
PPP2R1AENSG00000105568ENST00000322088p.V298Vc.894G>TSubstitution - coding silent
KDM6AENSG00000147050ENST00000377967p.C1361Yc.4082G>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.D1929Gc.5786A>GSubstitution - Missense
SRA1ENSG00000213523ENST00000336283p.L168Ic.502C>ASubstitution - Missense
GAGE2DENSG00000240257ENST00000404720p.M22Vc.64A>GSubstitution - Missense
ISY1ENSG00000240682ENST00000393295p.R196Pc.587G>CSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000534860p.E46*c.136G>TSubstitution - Nonsense
FLT1ENSG00000102755ENST00000282397p.L1061Vc.3181C>GSubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.W797*c.2390G>ASubstitution - Nonsense
TRMT13ENSG00000122435ENST00000370141p.L466Lc.1398G>ASubstitution - coding silent
CEP164ENSG00000110274ENST00000278935p.Q1135Kc.3403C>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.R1035Gc.3103A>GSubstitution - Missense
SARM1ENSG00000004139ENST00000457710p.I366Ic.1098C>TSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.I981Ic.2943C>TSubstitution - coding silent
RALYLENSG00000184672ENST00000522455p.T204Ic.611C>TSubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.E1160Vc.3479A>TSubstitution - Missense
FLT1ENSG00000102755ENST00000543394p.L84Vc.250C>GSubstitution - Missense
IFT172ENSG00000138002ENST00000416524p.E413Ec.1239A>GSubstitution - coding silent
ACSS1ENSG00000154930ENST00000542618p.?c.884-1G>AUnknown
ZFHX4ENSG00000091656ENST00000050961p.F1663Lc.4989C>GSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000380718p.E221*c.661G>TSubstitution - Nonsense
OSBPL9ENSG00000117859ENST00000428468p.S342Cc.1025C>GSubstitution - Missense
PRLRENSG00000113494ENST00000382002p.M232Vc.694A>GSubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.N898Nc.2694C>TSubstitution - coding silent
ENST00000360228_v70p.?c.1669-8T>CUnknown
MBD1ENSG00000141644ENST00000382948p.P13_R17>Cc.37_49>TComplex - deletion inframe
SLC9B1ENSG00000164037ENST00000296422p.G333Cc.997G>TSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.?c.671-8G>TUnknown
SPTBN1ENSG00000115306ENST00000356805p.D1942Gc.5825A>GSubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.G88Vc.263G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.I44Ic.132C>TSubstitution - coding silent
ASPNENSG00000106819ENST00000375544p.D51_E52insDDDDEc.153_154ins15Insertion - In frame
NCAPHENSG00000121152ENST00000240423p.L369Lc.1105C>TSubstitution - coding silent
NM_032133.2p.N861Nc.2583C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.E271Kc.811G>ASubstitution - Missense
SERPINI2ENSG00000114204ENST00000476257p.L179Lc.537G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.K320Nc.960G>CSubstitution - Missense
RALYLENSG00000184672ENST00000522455p.T204Ic.611C>TSubstitution - Missense
ACSS1ENSG00000154930ENST00000323482p.?c.1247-1G>AUnknown
KCNU1ENSG00000215262ENST00000399881p.E1006Kc.3016G>ASubstitution - Missense
SULT1A1ENSG00000196502ENST00000314752p.E151Kc.451G>ASubstitution - Missense
ENST00000346816p.I44Ic.132C>TSubstitution - coding silent
CCNFENSG00000162063ENST00000397066p.L562Lc.1686C>TSubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.E181*c.541G>TSubstitution - Nonsense
ABCA8ENSG00000141338ENST00000430352p.S1061Sc.3183C>TSubstitution - coding silent
ENST00000457912_v65p.?c.786+3G>AUnknown
SNRPNENSG00000128739ENST00000400100p.L42Vc.124C>GSubstitution - Missense
NM_152442.2p.D229Nc.685G>ASubstitution - Missense
EIF4BENSG00000063046ENST00000262056p.Q388Rc.1163A>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G178fs*13c.533delGDeletion - Frameshift
GOLGA4ENSG00000144674ENST00000361924p.A1074Tc.3220G>ASubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.V77Vc.231C>TSubstitution - coding silent
ISY1ENSG00000240682ENST00000273541p.R218Pc.653G>CSubstitution - Missense
HLXENSG00000136630ENST00000366903p.Y300Hc.898T>CSubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.Q615Hc.1845G>CSubstitution - Missense
ENST00000356127p.V2101Vc.6303C>ASubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.L531Lc.1593A>GSubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.E434Ec.1302A>GSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.L585Lc.1755A>GSubstitution - coding silent
ENST00000238522p.S1236Tc.3706T>ASubstitution - Missense
FNIP1ENSG00000217128ENST00000510461p.V1035Vc.3105G>ASubstitution - coding silent
ZNF454ENSG00000178187ENST00000320129p.D41Yc.121G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.783-8_920-27del211Unknown
TP53ENSG00000141510ENST00000269305p.E271Kc.811G>ASubstitution - Missense
BCRENSG00000186716ENST00000305877p.S400Pc.1198T>CSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.V4179Vc.12537T>CSubstitution - coding silent
FGFR3ENSG00000068078ENST00000340107p.K652Ec.1954A>GSubstitution - Missense
IRF7ENSG00000185507ENST00000330243p.V318Vc.954G>ASubstitution - coding silent
LIX1LENSG00000152022ENST00000369308p.Q238*c.712C>TSubstitution - Nonsense
MEF2AENSG00000068305ENST00000453228p.L67Lc.201C>ASubstitution - coding silent
PSMD7ENSG00000103035ENST00000219313p.?c.75-1G>CUnknown
GNASENSG00000087460ENST00000371100p.A364Dc.1091C>ASubstitution - Missense
TTI1ENSG00000101407ENST00000373448p.Q323Qc.969A>GSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.V619Vc.1857G>TSubstitution - coding silent
MBD1ENSG00000141644ENST00000339998p.P13_R17>Cc.37_49>TComplex - deletion inframe
FAM135BENSG00000147724ENST00000395297p.L1402Hc.4205T>ASubstitution - Missense
PLCXD3ENSG00000182836ENST00000377801p.P103Pc.309C>TSubstitution - coding silent
APLP2ENSG00000084234ENST00000263574p.H532Qc.1596T>GSubstitution - Missense
PLCH2ENSG00000149527ENST00000378486p.?c.1752+3C>GUnknown
DPP3ENSG00000254986ENST00000360510p.E512Kc.1534G>ASubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.?c.923-3C>TUnknown
TMEM57ENSG00000204178ENST00000374343p.R490Wc.1468C>TSubstitution - Missense
ENST00000354939p.L342Lc.1026C>GSubstitution - coding silent
RAPH1ENSG00000173166ENST00000308091p.A246Tc.736G>ASubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.P664Pc.1992T>CSubstitution - coding silent
NM_138737.1p.A306Ec.917C>ASubstitution - Missense
LMBR1ENSG00000105983ENST00000353442p.L63Lc.187T>CSubstitution - coding silent
KDM6AENSG00000147050ENST00000382899p.C1368Yc.4103G>ASubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.T1535Tc.4605C>TSubstitution - coding silent
PPP1CAENSG00000172531ENST00000542876p.Q146Ec.436C>GSubstitution - Missense
FMO1ENSG00000010932ENST00000354841p.A359Sc.1075G>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.N914Sc.2741A>GSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.L68Fc.202C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.?c.1253-3C>TUnknown
INO80ENSG00000128908ENST00000361937p.?c.3921+10G>AUnknown
CACNA1AENSG00000141837ENST00000360228p.?c.1669-8T>CUnknown
FAM117BENSG00000138439ENST00000303116p.H290Qc.870C>ASubstitution - Missense
APCENSG00000134982ENST00000457016p.S770Pc.2308T>CSubstitution - Missense
NFATC3ENSG00000072736ENST00000346183p.N119fs*5c.353_356delCTAADeletion - Frameshift
NKX3-2ENSG00000109705ENST00000382438p.?c.467-1G>AUnknown
GKN1ENSG00000169605ENST00000377938p.E117Kc.349G>ASubstitution - Missense
SULT1A1ENSG00000196502ENST00000350842p.E73Kc.217G>ASubstitution - Missense
NM_006596.3p.T1532Ic.4595C>TSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.E1025Qc.3073G>CSubstitution - Missense
PI4K2BENSG00000038210ENST00000264864p.A192Vc.575C>TSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.V1044Vc.3132C>TSubstitution - coding silent
NM_020766.1p.R80Hc.239G>ASubstitution - Missense
ANGPTL6ENSG00000130812ENST00000253109p.G356Ec.1067G>ASubstitution - Missense
AK9ENSG00000155085ENST00000424296p.?c.2752-9C>TUnknown
RPF2ENSG00000197498ENST00000368864p.L199Fc.597A>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.W2705Cc.8115G>CSubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.K592Ec.1774A>GSubstitution - Missense
SRSF7ENSG00000115875ENST00000313117p.R169Sc.505C>ASubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.R710Gc.2128C>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000471181p.S114Tc.340T>ASubstitution - Missense
INCA1ENSG00000196388ENST00000396829p.?c.44+10C>AUnknown
INCA1ENSG00000196388ENST00000355025p.?c.44+10C>AUnknown
PIK3CAENSG00000121879ENST00000263967p.P124Lc.371C>TSubstitution - Missense
SH3TC2ENSG00000169247ENST00000515425p.S29Lc.86C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.I44Ic.132C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.I44Ic.132C>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.S265Cc.793A>TSubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.F176Ic.526T>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.R670Qc.2009G>ASubstitution - Missense
PDPRENSG00000090857ENST00000288050p.I150Mc.450A>GSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.L562Lc.1686C>TSubstitution - coding silent
EMILIN3ENSG00000183798ENST00000332312p.Q142Rc.425A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.G1517Rc.4549G>ASubstitution - Missense
PSMD14ENSG00000115233ENST00000409682p.K277Qc.829A>CSubstitution - Missense
PHF20L1ENSG00000129292ENST00000395386p.D552fs*27c.1655_1656delATDeletion - Frameshift
PHF20L1ENSG00000129292ENST00000220847p.D526fs*27c.1577_1578delATDeletion - Frameshift
KIAA0947ENSG00000164151ENST00000296564p.E181*c.541G>TSubstitution - Nonsense
CLIC1ENSG00000213719ENST00000375780p.?c.565-10C>TUnknown
MINPP1ENSG00000107789ENST00000536010p.Q269Ec.805C>GSubstitution - Missense
OR10AG1ENSG00000174970ENST00000312345p.L178Ic.532C>ASubstitution - Missense
TMX2ENSG00000213593ENST00000278422p.A281Sc.841G>TSubstitution - Missense
SMTNL1ENSG00000214872ENST00000457912p.?c.786+3G>AUnknown
MYRFENSG00000124920ENST00000278836p.P155Pc.465C>TSubstitution - coding silent
TMTC1ENSG00000133687ENST00000381224p.I11Tc.32T>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.V4179Vc.12537T>CSubstitution - coding silent
SYNE2ENSG00000054654ENST00000357395p.V2621Vc.7863C>TSubstitution - coding silent
SNRPNENSG00000128739ENST00000444203p.L46Vc.136C>GSubstitution - Missense
C15orf39ENSG00000167173ENST00000567617p.S427Lc.1280C>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.N861Nc.2583C>TSubstitution - coding silent
BCRENSG00000186716ENST00000398512p.S400Pc.1198T>CSubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.V126Vc.378C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.G178fs*13c.533delGDeletion - Frameshift
ASPNENSG00000106819ENST00000395538p.D51_E52insDDDDEc.153_154ins15Insertion - In frame
PRLRENSG00000113494ENST00000542609p.M232Vc.694A>GSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.L180*c.539T>ASubstitution - Nonsense
POM121ENSG00000196313ENST00000434423p.G1032Sc.3094G>ASubstitution - Missense
SRGAP3ENSG00000196220ENST00000383836p.V126Vc.378C>TSubstitution - coding silent
HEPHENSG00000089472ENST00000519389p.A360Ec.1079C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.W2745Cc.8235G>CSubstitution - Missense
A2MENSG00000175899ENST00000318602p.Q637Qc.1911G>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.A1371Dc.4112C>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.R1045Gc.3133A>GSubstitution - Missense
MAMDC2ENSG00000165072ENST00000377182p.L7Vc.19C>GSubstitution - Missense
MYCT1ENSG00000120279ENST00000367245p.T143Tc.429C>ASubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.L1402Hc.4205T>ASubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.I108Lc.322A>TSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.R1248Rc.3744C>TSubstitution - coding silent
IREB2ENSG00000136381ENST00000258886p.L566Vc.1696C>GSubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.G623Rc.1867G>CSubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.T2Ic.5C>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.L432Lc.1296G>CSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376070p.N471Sc.1412A>GSubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.A280Pc.838G>CSubstitution - Missense
INPP5BENSG00000204084ENST00000373026p.Y91Yc.273C>TSubstitution - coding silent
PLA2G4FENSG00000168907ENST00000382396p.Q82Ec.244C>GSubstitution - Missense
OSBPL9ENSG00000117859ENST00000371710p.S360Cc.1079C>GSubstitution - Missense
MEF2AENSG00000068305ENST00000354410p.L67Lc.201C>ASubstitution - coding silent
ENST00000346108p.L67Lc.201C>ASubstitution - coding silent
SHC1ENSG00000160691ENST00000444664p.?c.243-6C>TUnknown
KDM5BENSG00000117139ENST00000367265p.R1416Tc.4247G>CSubstitution - Missense
NAALAD2ENSG00000077616ENST00000534061p.G188Vc.563G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.V6236Vc.18708C>TSubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.E6647Dc.19941G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000458046p.E281Dc.843G>CSubstitution - Missense
SERPINA1ENSG00000197249ENST00000440909p.T37Tc.111A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.V2101Vc.6303C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.V2055Vc.6165C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.K2721Tc.8162A>CSubstitution - Missense
ENST00000356127p.K2767Tc.8300A>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.K2767Tc.8300A>CSubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.Q615Hc.1845G>CSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.Q965*c.2893C>TSubstitution - Nonsense
ZDBF2ENSG00000204186ENST00000374423p.Q965*c.2893C>TSubstitution - Nonsense
TDRD15ENSG00000218819ENST00000405799p.Q157*c.469C>TSubstitution - Nonsense
TCEA1ENSG00000187735ENST00000521604p.E4*c.10G>TSubstitution - Nonsense
ARHGAP6ENSG00000047648ENST00000380732p.E253*c.757G>TSubstitution - Nonsense
DRP2ENSG00000102385ENST00000402866p.V541Lc.1621G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.K320Nc.960G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.783-8_920-27del211Unknown
SIGLEC10ENSG00000142512ENST00000339313p.S488Nc.1463G>ASubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.S430Nc.1289G>ASubstitution - Missense
BAIAP2ENSG00000175866ENST00000321300p.I298Ic.894C>TSubstitution - coding silent
BAIAP2ENSG00000175866ENST00000321280p.I298Ic.894C>TSubstitution - coding silent
BAIAP2ENSG00000175866ENST00000435091p.I298Ic.894C>TSubstitution - coding silent
LPIN2ENSG00000101577ENST00000261596p.T633Nc.1898C>ASubstitution - Missense
ENST00000325084p.?c.1672-8T>CUnknown
ENST00000357018p.?c.1672-8T>CUnknown
UMODL1ENSG00000177398ENST00000408989p.T735fs*39c.2202_2216>TComplex - frameshift
UMODL1ENSG00000177398ENST00000408989p.S737fs*37c.2208_2221del14Deletion - Frameshift
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
C21orf54ENSG00000229086ENST00000451980p.E104fs*41c.310delGDeletion - Frameshift
IQCF2ENSG00000184345ENST00000333127p.M1Tc.2T>CSubstitution - Missense
MBD1ENSG00000141644ENST00000457839p.P13_R17>Cc.37_49>TComplex - deletion inframe
MBD1ENSG00000141644ENST00000269471p.P13_R17>Cc.37_49>TComplex - deletion inframe
FAM117BENSG00000138439ENST00000392238p.H534Qc.1602C>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.?c.86-8A>GUnknown
ZNF615ENSG00000197619ENST00000376716p.L331Lc.993C>GSubstitution - coding silent
ZNF175ENSG00000105497ENST00000262259p.L518Lc.1554G>ASubstitution - coding silent
ENST00000405167p.G1932Vc.5795G>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.S1728Cc.5182A>TSubstitution - Missense
NM_021140.1p.C1361Yc.4082G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.S1021Sc.3063C>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000397459p.L257Lc.771A>GSubstitution - coding silent
NFATC3ENSG00000072736ENST00000329524p.N119fs*5c.353_356delCTAADeletion - Frameshift
PCDH18ENSG00000189184ENST00000344876p.S733Sc.2199C>TSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.T337Sc.1010C>GSubstitution - Missense
BIN1ENSG00000136717ENST00000316724p.V89Vc.267G>TSubstitution - coding silent
AFTPHENSG00000119844ENST00000238855p.S786Lc.2357C>TSubstitution - Missense
AFTPHENSG00000119844ENST00000238856p.S786Lc.2357C>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.T1015Rc.3044C>GSubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.?c.185-5C>TUnknown
POM121ENSG00000196313ENST00000395270p.G767Sc.2299G>ASubstitution - Missense
MED12ENSG00000184634ENST00000374080p.T115Ac.343A>GSubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.G88Vc.263G>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.2107-2A>GUnknown
NR1D2ENSG00000174738ENST00000312521p.E270Kc.808G>ASubstitution - Missense
AK131216.1p.E512Vc.1535A>TSubstitution - Missense
RETENSG00000165731ENST00000355710p.F1112Yc.3335T>ASubstitution - Missense
NM_003319p.V2055Vc.6165C>ASubstitution - coding silent
NM_006218.1p.P124Lc.371C>TSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000337414p.E221*c.661G>TSubstitution - Nonsense
MINPP1ENSG00000107789ENST00000371996p.Q470Ec.1408C>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.783-8_920-27del211Unknown
SIRT3ENSG00000142082ENST00000382743p.K393Kc.1179G>ASubstitution - coding silent
SLC38A2ENSG00000134294ENST00000256689p.V268Lc.802G>CSubstitution - Missense
PPP1R2ENSG00000184203ENST00000328432p.S188Sc.564A>GSubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.I297Ic.891A>TSubstitution - coding silent
DNAJC16ENSG00000116138ENST00000375847p.M536Ic.1608G>CSubstitution - Missense
MMP16ENSG00000156103ENST00000286614p.P146fs*17c.437delCDeletion - Frameshift
PIGSENSG00000087111ENST00000308360p.P306Qc.917C>ASubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.R579Hc.1736G>ASubstitution - Missense
NR2F1ENSG00000175745ENST00000327111p.R126Rc.378G>ASubstitution - coding silent
HLA-AENSG00000206503ENST00000396634p.L180*c.539T>ASubstitution - Nonsense
POM121ENSG00000196313ENST00000257622p.G767Sc.2299G>ASubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.R678Qc.2033G>ASubstitution - Missense
ZNF704ENSG00000164684ENST00000327835p.V373Gc.1118T>GSubstitution - Missense
DPRXENSG00000204595ENST00000376650p.C172Cc.516C>TSubstitution - coding silent
TPRENSG00000047410ENST00000367478p.K877Ec.2629A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.2107-2A>GUnknown
PCDHB12ENSG00000120328ENST00000239450p.R548Sc.1642C>ASubstitution - Missense
ENSG00000198843ENST00000471696p.E150Qc.448G>CSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.R954Cc.2860C>TSubstitution - Missense
PIGRENSG00000162896ENST00000356495p.Q196Kc.586C>ASubstitution - Missense
KIF17ENSG00000117245ENST00000247986p.Q960Rc.2879A>GSubstitution - Missense
C15orf39ENSG00000167173ENST00000360639p.S427Lc.1280C>TSubstitution - Missense
RAD9BENSG00000151164ENST00000392672p.D387Nc.1159G>ASubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.D259Nc.775G>ASubstitution - Missense
C1orf65ENSG00000178395ENST00000366875p.G37Ac.110G>CSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.I251Lc.751A>TSubstitution - Missense
CHRM4ENSG00000180720ENST00000433765p.V287_K290>Ec.860_868delTGGCTGATAComplex - deletion inframe
GLI1ENSG00000111087ENST00000228682p.S545Gc.1633A>GSubstitution - Missense
C3AR1ENSG00000171860ENST00000307637p.E461Qc.1381G>CSubstitution - Missense
NECAP1ENSG00000089818ENST00000339754p.E6Ec.18G>ASubstitution - coding silent
CLEC6AENSG00000205846ENST00000382073p.P80Qc.239C>ASubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.C59Rc.175T>CSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.R1248Rc.3744C>TSubstitution - coding silent
DHX32ENSG00000089876ENST00000284690p.K68fs*14c.204delADeletion - Frameshift
MYRFENSG00000124920ENST00000265460p.P146Pc.438C>TSubstitution - coding silent
ENST00000451458p.Q146Ec.436C>GSubstitution - Missense
MYEOVENSG00000172927ENST00000308946p.E107Ec.321G>ASubstitution - coding silent
CHRM3ENSG00000133019ENST00000255380p.D26Ec.78T>GSubstitution - Missense
ENST00000393462p.S902Nc.2705G>ASubstitution - Missense
GLT8D2ENSG00000120820ENST00000360814p.?c.285-9T>AUnknown
PRRC2CENSG00000117523ENST00000392078p.A1371Dc.4112C>ASubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.G159Sc.475G>ASubstitution - Missense
GABRG3ENSG00000182256ENST00000333743p.?c.713-1G>AUnknown
ITLN1ENSG00000179914ENST00000326245p.N62Ic.185A>TSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.Q187Rc.560A>GSubstitution - Missense
USH1CENSG00000006611ENST00000318024p.Q187Rc.560A>GSubstitution - Missense
SLC1A2ENSG00000110436ENST00000278379p.I464Ic.1392C>TSubstitution - coding silent
THNSL1ENSG00000185875ENST00000376356p.A418Pc.1252G>CSubstitution - Missense


COSMIC

71 mutations reported
24 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
BAI3ENSG00000135298ENST00000370598p.I108Lc.322A>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.K320Nc.960G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.K320Nc.960G>CSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense15897885
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense19955487
RB1ENSG00000139687ENST00000267163p.?c.2107-2A>GUnknown2594029
TERTENSG00000164362ENST00000310581p.?c.1-124C>TUnknown24035680
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense11314002
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense16885334
PTENENSG00000171862ENST00000371953p.?c.?_?del?Unknown10360673
RB1ENSG00000139687ENST00000267163p.?c.2107-2A>GUnknown2521957
FGFR3ENSG00000068078ENST00000440486p.K650Ec.?Substitution - Missense19789314
NM_006218.1p.P124Lc.371C>TSubstitution - Missense19789314
FGFR3ENSG00000068078ENST00000440486p.K650Ec.?Substitution - Missense23401075
TP53ENSG00000141510ENST00000269305p.K320Nc.960G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.K320Nc.960G>CSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.T1535Tc.4605C>TSubstitution - coding silent
PLCXD3ENSG00000182836ENST00000377801p.P103Pc.309C>TSubstitution - coding silent
BCRENSG00000186716ENST00000305877p.S400Pc.1198T>CSubstitution - Missense
BCRENSG00000186716ENST00000305877p.S400Pc.1198T>CSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.K650Ec.1948A>GSubstitution - Missense
NM_006618.2p.R1553Tc.4658G>CSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G178fs*13c.533delGDeletion - Frameshift
ENST00000447890p.A590Ac.1770T>ASubstitution - coding silent
DNAJC16ENSG00000116138ENST00000375847p.M536Ic.1608G>CSubstitution - Missense
PPP1R2ENSG00000184203ENST00000328432p.S188Sc.564A>GSubstitution - coding silent
NR2F1ENSG00000175745ENST00000327111p.R126Rc.378G>ASubstitution - coding silent
ARHGAP6ENSG00000047648ENST00000337414p.E221*c.661G>TSubstitution - Nonsense
ARHGAP6ENSG00000047648ENST00000337414p.E221*c.661G>TSubstitution - Nonsense
MINPP1ENSG00000107789ENST00000371996p.Q470Ec.1408C>GSubstitution - Missense
RETENSG00000165731ENST00000355710p.F1112Yc.3335T>ASubstitution - Missense
RETENSG00000165731ENST00000355710p.F1112Yc.3335T>ASubstitution - Missense
MINPP1ENSG00000107789ENST00000371996p.Q470Ec.1408C>GSubstitution - Missense
SIRT3ENSG00000142082ENST00000382743p.K393Kc.1179G>ASubstitution - coding silent
PCDH19ENSG00000165194ENST00000373034p.R579Hc.1736G>ASubstitution - Missense
SLC38A2ENSG00000134294ENST00000256689p.V268Lc.802G>CSubstitution - Missense
MMP16ENSG00000156103ENST00000286614p.P146fs*17c.437delCDeletion - Frameshift
PIGSENSG00000087111ENST00000308360p.P306Qc.917C>ASubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.L1061Vc.3181C>GSubstitution - Missense
USP4ENSG00000114316ENST00000265560p.I297Ic.891A>TSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.V126Vc.378C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.W2745Cc.8235G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.783-8_920-27del211Unknown
TP53ENSG00000141510ENST00000269305p.?c.783-8_920-27del211Unknown
TP53ENSG00000141510ENST00000269305p.?c.783-8_920-27del211Unknown
TP53ENSG00000141510ENST00000269305p.?c.783-8_920-27del211Unknown
AK131216.1p.E512Vc.1535A>TSubstitution - Missense
AK131216.1p.E512Vc.1535A>TSubstitution - Missense
NR1D2ENSG00000174738ENST00000312521p.E270Kc.808G>ASubstitution - Missense
TPRENSG00000047410ENST00000367478p.K877Ec.2629A>GSubstitution - Missense
XM_375718.1p.Y128Yc.384C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000357654p.S114Tc.340T>ASubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.S114Tc.340T>ASubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.W797*c.2390G>ASubstitution - Nonsense
NM_003319p.V2055Vc.6165C>ASubstitution - coding silent
NM_003319p.V2055Vc.6165C>ASubstitution - coding silent
FLT1ENSG00000102755ENST00000282397p.L1061Vc.3181C>GSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.G1517Rc.4549G>ASubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.L369Lc.1105C>TSubstitution - coding silent
NCAPHENSG00000121152ENST00000240423p.L369Lc.1105C>TSubstitution - coding silent
SERPINI2ENSG00000114204ENST00000476257p.L179Lc.537G>ASubstitution - coding silent
NM_032133.2p.N861Nc.2583C>TSubstitution - coding silent
SU_CRIKp.S1372Lc.4115C>TSubstitution - Missense
SU_CRIKp.S1372Lc.4115C>TSubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.Y446Sc.1337A>CSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.I44Ic.132C>TSubstitution - coding silent
SU_LRRK2p.E1190*c.3568G>TSubstitution - Nonsense
SU_LRRK2p.E1190*c.3568G>TSubstitution - Nonsense
GLI1ENSG00000111087ENST00000228682p.L252Mc.754C>ASubstitution - Missense
NM_002779.2p.A17Vc.50C>TSubstitution - Missense