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JIMT-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

548 mutations reported
212 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
RYR2ENSG00000198626ENST00000366574p.Q1532Lc.4595A>TSubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.P94Hc.281C>ASubstitution - Missense
KCNH1ENSG00000143473ENST00000271751p.R956Sc.2868G>CSubstitution - Missense
KLRC1ENSG00000134545ENST00000359151p.?c.590+8G>CUnknown
FANCMENSG00000187790ENST00000267430p.I1281Lc.3841A>TSubstitution - Missense
KIDINS220ENSG00000134313ENST00000256707p.L507Lc.1521A>GSubstitution - coding silent
ARHGEF18ENSG00000104880ENST00000359920p.L512Fc.1536G>CSubstitution - Missense
SLC9B1ENSG00000164037ENST00000296422p.A459Tc.1375G>ASubstitution - Missense
HHATLENSG00000010282ENST00000310417p.S254Sc.762C>TSubstitution - coding silent
DIAPH2ENSG00000147202ENST00000373049p.L358Lc.1074A>GSubstitution - coding silent
ENST00000314583_v70p.R252Qc.755G>ASubstitution - Missense
HPS5ENSG00000110756ENST00000349215p.L322Vc.964C>GSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.M540Vc.1618A>GSubstitution - Missense
ARHGAP22ENSG00000128805ENST00000249601p.P93Sc.277C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5944Sc.17832C>TSubstitution - coding silent
NMNAT3ENSG00000163864ENST00000413939p.P91Tc.271C>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.V30Fc.88G>TSubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.T199Tc.597C>TSubstitution - coding silent
CAMK2DENSG00000145349ENST00000508738p.L16Vc.46C>GSubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.F389Vc.1165T>GSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.P1265Pc.3795C>TSubstitution - coding silent
TLL1ENSG00000038295ENST00000061240p.E615Gc.1844A>GSubstitution - Missense
OR7A10ENSG00000127515ENST00000248058p.Q232Hc.696G>TSubstitution - Missense
PPATENSG00000128059ENST00000264220p.A19Ac.57C>TSubstitution - coding silent
COL17A1ENSG00000065618ENST00000353479p.A264Ac.792G>TSubstitution - coding silent
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
RFWD3ENSG00000168411ENST00000361070p.T742Tc.2226C>TSubstitution - coding silent
TRPM7ENSG00000092439ENST00000313478p.M1043Vc.3127A>GSubstitution - Missense
TMOD4ENSG00000163157ENST00000295314p.?c.281-8C>AUnknown
NUP205ENSG00000155561ENST00000285968p.L1846Lc.5538T>CSubstitution - coding silent
BCAS1ENSG00000064787ENST00000395961p.A144Ac.432T>CSubstitution - coding silent
SOHLH1ENSG00000165643ENST00000298466p.P315Pc.945G>ASubstitution - coding silent
CD300LGENSG00000161649ENST00000317310p.V124Vc.372C>GSubstitution - coding silent
MSH6ENSG00000116062ENST00000234420p.S625Sc.1875C>TSubstitution - coding silent
HCLS1ENSG00000180353ENST00000314583p.R252Qc.755G>ASubstitution - Missense
OR8U1ENSG00000172199ENST00000302270p.L86Fc.258G>TSubstitution - Missense
HELLSENSG00000119969ENST00000371332p.K113Rc.338A>GSubstitution - Missense
CENPCENSG00000145241ENST00000273853p.R16Kc.47G>ASubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.P814Pc.2442C>TSubstitution - coding silent
EXPH5ENSG00000110723ENST00000265843p.G1338Vc.4013G>TSubstitution - Missense
NM_005056.1p.M540Vc.1618A>GSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P1500Pc.4500A>GSubstitution - coding silent
XM_210048.3p.T135Tc.405C>TSubstitution - coding silent
NFE2L1ENSG00000082641ENST00000362042p.P420Rc.1259C>GSubstitution - Missense
SRRM1ENSG00000133226ENST00000323848p.P533Qc.1598C>ASubstitution - Missense
ENST00000424015p.C38Yc.113G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.?c.437-1G>AUnknown
ERCC6LENSG00000186871ENST00000334463p.S1089Cc.3266C>GSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.Q884Rc.2651A>GSubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.S128Sc.384A>TSubstitution - coding silent
RBMS3ENSG00000144642ENST00000383767p.Q280Qc.840G>ASubstitution - coding silent
TRMT44ENSG00000155275ENST00000389737p.Q235Ec.703C>GSubstitution - Missense
KCNIP1ENSG00000182132ENST00000411494p.H95Rc.284A>GSubstitution - Missense
LNX1ENSG00000072201ENST00000263925p.R428Hc.1283G>ASubstitution - Missense
FOXK1ENSG00000164916ENST00000328914p.A458Pc.1372G>CSubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.Q797Qc.2391A>GSubstitution - coding silent
ARHGAP33ENSG00000004777ENST00000378944p.R354Pc.1061G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.Q1530Lc.4589A>TSubstitution - Missense
NRP2ENSG00000118257ENST00000360409p.D301Hc.901G>CSubstitution - Missense
ENST00000331986p.S1577Sc.4731C>TSubstitution - coding silent
NMNAT2ENSG00000157064ENST00000287713p.I303Tc.908T>CSubstitution - Missense
CENPOENSG00000138092ENST00000380834p.S199Nc.596G>ASubstitution - Missense
NT5DC2ENSG00000168268ENST00000307076p.E46Kc.136G>ASubstitution - Missense
MST1RENSG00000164078ENST00000296474p.T449Tc.1347T>CSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.R3160Cc.9478C>TSubstitution - Missense
NDUFS6ENSG00000145494ENST00000274137p.?c.309+9C>AUnknown
WDFY3ENSG00000163625ENST00000295888p.P921Pc.2763G>ASubstitution - coding silent
PIK3CAENSG00000121879ENST00000263967p.C420Rc.1258T>CSubstitution - Missense
PRLHRENSG00000119973ENST00000369169p.A352Sc.1054G>TSubstitution - Missense
MARSENSG00000166986ENST00000262027p.I855Tc.2564T>CSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.D1975Ec.5925C>GSubstitution - Missense
ENST00000265424p.D326Dc.978T>CSubstitution - coding silent
KRTAP15-1ENSG00000186970ENST00000334067p.S114Fc.341C>TSubstitution - Missense
DNM2ENSG00000079805ENST00000389253p.R657Cc.1969C>TSubstitution - Missense
SEPT1ENSG00000180096ENST00000571393p.G94Gc.282G>ASubstitution - coding silent
IL1RNENSG00000136689ENST00000259206p.I129Ic.387C>ASubstitution - coding silent
IL1RNENSG00000136689ENST00000361779p.I92Ic.276C>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.V3540Ec.10619T>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.Q100Qc.300G>ASubstitution - coding silent
BRPF3ENSG00000096070ENST00000357641p.V618Vc.1854C>GSubstitution - coding silent
CLEC16AENSG00000038532ENST00000409552p.R425Hc.1274G>ASubstitution - Missense
INPP5FENSG00000198825ENST00000361976p.K789Nc.2367G>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.G898Rc.2692G>ASubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.I568Nc.1703T>ASubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.A1054Ac.3162C>ASubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.L139*c.416T>ASubstitution - Nonsense
CRB1ENSG00000134376ENST00000367400p.D1005Vc.3014A>TSubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.?c.1163-5T>AUnknown
COL6A2ENSG00000142173ENST00000357838p.T787Mc.2360C>TSubstitution - Missense
GNEENSG00000159921ENST00000377902p.H281Hc.843C>TSubstitution - coding silent
LRRC36ENSG00000159708ENST00000329956p.N484Nc.1452C>TSubstitution - coding silent
DRD5ENSG00000169676ENST00000304374p.L129Lc.387G>CSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.L978*c.2933T>ASubstitution - Nonsense
GPR75ENSG00000119737ENST00000394705p.R378Wc.1132C>TSubstitution - Missense
IGSF11ENSG00000144847ENST00000393775p.S323Sc.969C>TSubstitution - coding silent
FNDC1ENSG00000164694ENST00000297267p.R1759Wc.5275A>TSubstitution - Missense
ZNF354BENSG00000178338ENST00000322434p.I538Tc.1613T>CSubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.N766Hc.2296A>CSubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.A607fs*3c.1819_1834del16Deletion - Frameshift
MARC2ENSG00000117791ENST00000359316p.I124fs*15c.362_363insCTGCInsertion - Frameshift
NT5DC2ENSG00000168268ENST00000422318p.E83Kc.247G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.?c.616+2T>GUnknown
ACTN2ENSG00000077522ENST00000542672p.T713Tc.2139G>CSubstitution - coding silent
ENST00000316851_v65p.A815Ec.2444C>ASubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.L139Pc.416T>CSubstitution - Missense
EPHB2ENSG00000133216ENST00000374627p.Q671Qc.2013G>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.?c.1876+3C>AUnknown
APOBENSG00000084674ENST00000233242p.L133Lc.399G>TSubstitution - coding silent
ENST00000212369p.G16Gc.48C>ASubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.L1200Mc.3598C>ASubstitution - Missense
ENST00000313266p.A55Tc.163G>ASubstitution - Missense
CASD1ENSG00000127995ENST00000297273p.V309Fc.925G>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.V3297Ec.9890T>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.E2796Qc.8386G>CSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.R490Pc.1469G>CSubstitution - Missense
SOHLH1ENSG00000165643ENST00000425225p.P315Pc.945G>ASubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.Y2117Cc.6350A>GSubstitution - Missense
SORBS2ENSG00000154556ENST00000437304p.L520Lc.1558T>CSubstitution - coding silent
CYP2R1ENSG00000186104ENST00000334636p.K482Nc.1446G>CSubstitution - Missense
SLCO1C1ENSG00000139155ENST00000381552p.P690fs*>41c.2068delCDeletion - Frameshift
POLR3CENSG00000186141ENST00000334163p.Q66Lc.197A>TSubstitution - Missense
FAM13CENSG00000148541ENST00000373868p.?c.325-4G>TUnknown
EIF2AK3ENSG00000172071ENST00000303236p.N509Nc.1527T>CSubstitution - coding silent
FARSAENSG00000179115ENST00000314606p.R139Rc.417G>ASubstitution - coding silent
COL6A2ENSG00000142173ENST00000310645p.T787Mc.2360C>TSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.A865Ac.2595C>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.E1899Ac.5696A>CSubstitution - Missense
SATB2ENSG00000119042ENST00000417098p.E490*c.1468G>TSubstitution - Nonsense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
HTR1BENSG00000135312ENST00000369947p.S263Sc.789C>ASubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.P1888Pc.5664C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000325215p.?c.616+2T>GUnknown
MBD3ENSG00000071655ENST00000156825p.T173Tc.519G>ASubstitution - coding silent
SU_QSKp.N692Nc.2076C>TSubstitution - coding silent
NM_015133.2p.P814Pc.2442C>TSubstitution - coding silent
FAM13CENSG00000148541ENST00000422313p.?c.325-4G>TUnknown
YARSENSG00000134684ENST00000373477p.K58Nc.174G>CSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.L19Vc.55C>GSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.D159Yc.475G>TSubstitution - Missense
SMPDL3AENSG00000172594ENST00000368440p.I205Fc.613A>TSubstitution - Missense
IGSF11ENSG00000144847ENST00000354673p.S322Sc.966C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.?c.616+2T>GUnknown
TAS2R7ENSG00000121377ENST00000240687p.S145Rc.433A>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Wc.742C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense
FBXW9ENSG00000132004ENST00000380339p.L397Lc.1191G>TSubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.D1657Ec.4971C>GSubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.V89fs*5c.266_267delTGDeletion - Frameshift
NINENSG00000100503ENST00000382041p.?c.6079-2A>GUnknown
PDE4DIPENSG00000178104ENST00000369354p.?c.6953-1G>AUnknown
DSCAML1ENSG00000177103ENST00000321322p.R331Hc.992G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.?c.86-4G>TUnknown
ENST00000339267p.H276Hc.828C>TSubstitution - coding silent
NRP2ENSG00000118257ENST00000272849p.D301Hc.901G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5944Sc.17832C>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.P353Pc.1059G>ASubstitution - coding silent
ZNF274ENSG00000171606ENST00000326804p.R124Rc.372G>TSubstitution - coding silent
ADAM2ENSG00000104755ENST00000265708p.G501Sc.1501G>ASubstitution - Missense
DAZAP1ENSG00000071626ENST00000233078p.?c.415-7_463+469>TGAUnknown
NUDCD1ENSG00000120526ENST00000239690p.V445Vc.1335C>TSubstitution - coding silent
MED27ENSG00000160563ENST00000292035p.I5Vc.13A>GSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.V2212Gc.6635T>GSubstitution - Missense
TRMT11ENSG00000066651ENST00000334379p.P145Lc.434C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.?c.10291-4C>GUnknown
ARHGAP20ENSG00000137727ENST00000533353p.L872Fc.2614C>TSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.L825Fc.2473C>TSubstitution - Missense
PPWD1ENSG00000113593ENST00000261308p.S28Rc.84C>ASubstitution - Missense
KIF5BENSG00000170759ENST00000302418p.R956*c.2866C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.R248Wc.742C>TSubstitution - Missense
ZNF598ENSG00000167962ENST00000431526p.A415Tc.1243G>ASubstitution - Missense
CATENSG00000121691ENST00000241052p.G78Gc.234A>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.L898Fc.2692C>TSubstitution - Missense
EIF3MENSG00000149100ENST00000531120p.F231Cc.692T>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5735Fc.17204C>TSubstitution - Missense
ENST00000331986p.S1368Fc.4103C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.?c.6635-1G>AUnknown
ARMC5ENSG00000140691ENST00000457010p.Q211Rc.632A>GSubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.L723Fc.2169A>CSubstitution - Missense
FAM114A1ENSG00000197712ENST00000358869p.?c.945+9G>CUnknown
ROBO2ENSG00000185008ENST00000461745p.?c.389-1G>AUnknown
RNF38ENSG00000137075ENST00000259605p.P284Hc.851C>ASubstitution - Missense
KLK9ENSG00000213022ENST00000376832p.Q128*c.382C>TSubstitution - Nonsense
PDZD2ENSG00000133401ENST00000282493p.A1029Vc.3086C>TSubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1623-10C>TUnknown
NT5EENSG00000135318ENST00000257770p.?c.340-1G>CUnknown
TEFENSG00000167074ENST00000266304p.R276Qc.827G>ASubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.I44Vc.130A>GSubstitution - Missense
KIDINS220ENSG00000134313ENST00000319688p.L508Lc.1524A>GSubstitution - coding silent
HELLSENSG00000119969ENST00000394044p.K113Rc.338A>GSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.?c.1163-5T>AUnknown
PINK1ENSG00000158828ENST00000321556p.V350Mc.1048G>ASubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.P46Pc.138G>TSubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.L550Fc.1648C>TSubstitution - Missense
NMNAT2ENSG00000157064ENST00000294868p.I298Tc.893T>CSubstitution - Missense
YAP1ENSG00000137693ENST00000282441p.?c.322-7C>TUnknown
HEATR4ENSG00000187105ENST00000334988p.K73Rc.218A>GSubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.N294Kc.882T>ASubstitution - Missense
GCDHENSG00000105607ENST00000457854p.S305Sc.915G>ASubstitution - coding silent
DNM2ENSG00000079805ENST00000359692p.R657Cc.1969C>TSubstitution - Missense
ENST00000246798p.R916Rc.2748G>TSubstitution - coding silent
HIVEP2ENSG00000010818ENST00000012134p.T1340Tc.4020G>ASubstitution - coding silent
TACR1ENSG00000115353ENST00000305249p.D371Dc.1113C>TSubstitution - coding silent
ENST00000359109p.?c.504-10C>TUnknown
NM_006904p.K2500Qc.7498A>CSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.K2499Qc.7495A>CSubstitution - Missense
SORBS2ENSG00000154556ENST00000393528p.L362Lc.1084T>CSubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.V2152Gc.6455T>GSubstitution - Missense
PI16ENSG00000164530ENST00000373674p.S366Yc.1097C>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.L1418Vc.4252C>GSubstitution - Missense
DHX30ENSG00000132153ENST00000445061p.I716Vc.2146A>GSubstitution - Missense
NM_133170.2p.G906Rc.2716G>CSubstitution - Missense
KELENSG00000197993ENST00000355265p.R14Hc.41G>ASubstitution - Missense
TTC38ENSG00000075234ENST00000381031p.D333Dc.999C>TSubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.?c.1876+3C>AUnknown
ATG4BENSG00000168397ENST00000474739p.?c.1067-8C>GUnknown
MYO5AENSG00000197535ENST00000358212p.R623Kc.1868G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A8010Ac.24030A>GSubstitution - coding silent
NINENSG00000100503ENST00000245441p.?c.6079-2A>GUnknown
TATDN2ENSG00000157014ENST00000287652p.K201Ec.601A>GSubstitution - Missense
FBXW9ENSG00000132004ENST00000393261p.L367Lc.1101G>TSubstitution - coding silent
XM_374396.2p.Q984Rc.2951A>GSubstitution - Missense
NM_001371.1p.E1899Ac.5696A>CSubstitution - Missense
ENST00000272666p.R608Cc.1822C>TSubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.E134Gc.401A>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.?c.6167-4G>TUnknown
HSPA4ENSG00000170606ENST00000304858p.?c.985+7A>GUnknown
RPS6KA6ENSG00000072133ENST00000262752p.?c.1777-3T>AUnknown
NMNAT3ENSG00000163864ENST00000339837p.P143Tc.427C>ASubstitution - Missense
LRRC36ENSG00000159708ENST00000563189p.N363Nc.1089C>TSubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.D981Vc.2942A>TSubstitution - Missense
MROH7ENSG00000184313ENST00000339553p.L550Fc.1648C>TSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.D438Vc.1313A>TSubstitution - Missense
GCDHENSG00000105607ENST00000422947p.S261Sc.783G>ASubstitution - coding silent
DNM2ENSG00000079805ENST00000314646p.R657Cc.1969C>TSubstitution - Missense
CD300LGENSG00000161649ENST00000539718p.V124Vc.372C>GSubstitution - coding silent
IL1RNENSG00000136689ENST00000409930p.I126Ic.378C>ASubstitution - coding silent
USP41ENSG00000161133ENST00000454608p.S175Fc.524C>TSubstitution - Missense
BCAS1ENSG00000064787ENST00000371440p.A144Ac.432T>CSubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.G874Rc.2620G>CSubstitution - Missense
CAMK2DENSG00000145349ENST00000394522p.L16Vc.46C>GSubstitution - Missense
RBMS3ENSG00000144642ENST00000456853p.Q293Qc.879G>ASubstitution - coding silent
ATG4BENSG00000168397ENST00000405546p.?c.1129-8C>GUnknown
NRP2ENSG00000118257ENST00000540841p.D301Hc.901G>CSubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.E134Gc.401A>GSubstitution - Missense
ENST00000378024_v70p.P4194Pc.12582C>ASubstitution - coding silent
TPH1ENSG00000129167ENST00000341556p.V89fs*5c.266_267delTGDeletion - Frameshift
AMPHENSG00000078053ENST00000428293p.T639Tc.1917C>GSubstitution - coding silent
NT5EENSG00000135318ENST00000369646p.?c.340-1G>CUnknown
HLA-AENSG00000206503ENST00000376806p.T34Tc.102A>TSubstitution - coding silent
JARID2ENSG00000008083ENST00000541660p.T161Tc.483C>TSubstitution - coding silent
SLIT3ENSG00000184347ENST00000404867p.K1260Qc.3778A>CSubstitution - Missense
RNF38ENSG00000137075ENST00000377877p.P208Hc.623C>ASubstitution - Missense
GPR18ENSG00000125245ENST00000340807p.G217Sc.649G>ASubstitution - Missense
MARC2ENSG00000117791ENST00000366913p.I124fs*15c.362_363insCTGCInsertion - Frameshift
SELPLGENSG00000110876ENST00000550948p.T157Tc.471G>CSubstitution - coding silent
GIFENSG00000134812ENST00000257248p.L137Lc.409C>TSubstitution - coding silent
SH3GLB1ENSG00000097033ENST00000482504p.G16Gc.48C>ASubstitution - coding silent
UBXN10ENSG00000162543ENST00000375099p.L148Lc.444T>CSubstitution - coding silent
ATAD3CENSG00000215915ENST00000378785p.V206Mc.616G>ASubstitution - Missense
DEFA5ENSG00000164816ENST00000330590p.R94Cc.280C>TSubstitution - Missense
CD79BENSG00000007312ENST00000006750p.T60Tc.180G>ASubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.A865Ac.2595C>ASubstitution - coding silent
PPAP2CENSG00000141934ENST00000269812p.S166Lc.497C>TSubstitution - Missense
ZNF555ENSG00000186300ENST00000334241p.N434Sc.1301A>GSubstitution - Missense
INPP5KENSG00000132376ENST00000320345p.T241Mc.722C>TSubstitution - Missense
NHSENSG00000188158ENST00000380060p.I384Ic.1152C>TSubstitution - coding silent
ABCB5ENSG00000004846ENST00000258738p.I778Tc.2333T>CSubstitution - Missense
SMARCAD1ENSG00000163104ENST00000354268p.A625Tc.1873G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.L978*c.2933T>ASubstitution - Nonsense
RNF170ENSG00000120925ENST00000534961p.P74Lc.221C>TSubstitution - Missense
ATG4BENSG00000168397ENST00000404914p.?c.1109-8C>GUnknown
GGT2ENSG00000133475ENST00000401924p.T456Tc.1368G>ASubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.V1688Ic.5062G>ASubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.T1455Tc.4365C>TSubstitution - coding silent
ERCC6L2ENSG00000182150ENST00000437817p.I297fs*36c.890delTDeletion - Frameshift
DENND3ENSG00000105339ENST00000262585p.P1030Pc.3090G>CSubstitution - coding silent
ASB13ENSG00000196372ENST00000357700p.A178Vc.533C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.E2116Ac.6347A>CSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.P1500Pc.4500A>GSubstitution - coding silent
BIN2ENSG00000110934ENST00000267012p.?c.218-8C>TUnknown
MUC16ENSG00000181143ENST00000397910p.A8010Ac.24030A>GSubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.K46Rc.137A>GSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.A1054Ac.3162C>ASubstitution - coding silent
NEDD4LENSG00000049759ENST00000382850p.S264Wc.791C>GSubstitution - Missense
ATP6V0A4ENSG00000105929ENST00000393054p.V645Vc.1935T>GSubstitution - coding silent
DAND5ENSG00000179284ENST00000317060p.V159Ic.475G>ASubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.S304Sc.912C>TSubstitution - coding silent
TTC21AENSG00000168026ENST00000431162p.I302Nc.905T>ASubstitution - Missense
ZNF274ENSG00000171606ENST00000345813p.R92Rc.276G>TSubstitution - coding silent
FNTAENSG00000168522ENST00000302279p.N329Sc.986A>GSubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.L358Lc.1074A>GSubstitution - coding silent
MVPENSG00000013364ENST00000395353p.V25Mc.73G>ASubstitution - Missense
CENPOENSG00000138092ENST00000473706p.S193Nc.578G>ASubstitution - Missense
SRRM1ENSG00000133226ENST00000447431p.P531Qc.1592C>ASubstitution - Missense
PPARGC1AENSG00000109819ENST00000264867p.L796Lc.2386T>CSubstitution - coding silent
SORBS2ENSG00000154556ENST00000284776p.L269Lc.805T>CSubstitution - coding silent
SORBS2ENSG00000154556ENST00000418609p.L173Lc.517T>CSubstitution - coding silent
SORBS2ENSG00000154556ENST00000448662p.L357Lc.1069T>CSubstitution - coding silent
PET112ENSG00000059691ENST00000263985p.H512Nc.1534C>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.I1547Fc.4639A>TSubstitution - Missense
HTR1BENSG00000135312ENST00000369947p.T252Nc.755C>ASubstitution - Missense
GPR75ENSG00000119737ENST00000394705p.R406Pc.1217G>CSubstitution - Missense
STON1-GTF2A1LENSG00000068781ENST00000394754p.T392Ac.1174A>GSubstitution - Missense
STON1ENSG00000243244ENST00000309835p.T392Ac.1174A>GSubstitution - Missense
SMG8ENSG00000167447ENST00000300917p.E877Ac.2630A>CSubstitution - Missense
CD300LGENSG00000161649ENST00000293396p.V124Vc.372C>GSubstitution - coding silent
PDCD10ENSG00000114209ENST00000392750p.F182Cc.545T>GSubstitution - Missense
NUMBLENSG00000105245ENST00000252891p.D154Hc.460G>CSubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.G927Ec.2780G>ASubstitution - Missense
AGPAT2ENSG00000169692ENST00000371696p.M104Lc.310A>TSubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.P976Pc.2928G>TSubstitution - coding silent
AMPHENSG00000078053ENST00000356264p.T681Tc.2043C>GSubstitution - coding silent
B3GNT8ENSG00000177191ENST00000321702p.R125Rc.375G>CSubstitution - coding silent
CREB3L3ENSG00000060566ENST00000078445p.N296Nc.888C>TSubstitution - coding silent
ENST00000274705p.V360Fc.1078G>TSubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.P188Pc.564G>ASubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.P188Pc.564G>ASubstitution - coding silent
ASZ1ENSG00000154438ENST00000284629p.F236Lc.708T>ASubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.T34Tc.102A>TSubstitution - coding silent
GAL3ST4ENSG00000197093ENST00000360039p.R159*c.475C>TSubstitution - Nonsense
ENST00000450194p.A436Pc.1306G>CSubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.T616Nc.1847C>ASubstitution - Missense
DAZAP1ENSG00000071626ENST00000336761p.?c.415-7_463+469>TGAUnknown
PKD1ENSG00000008710ENST00000262304p.?c.10221-3C>AUnknown
ENST00000316490_v65p.T1041Pc.3121A>CSubstitution - Missense
ANGPT1ENSG00000154188ENST00000297450p.N260Sc.779A>GSubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.A421Sc.1261G>TSubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.S613Nc.1838G>ASubstitution - Missense
EVCENSG00000072840ENST00000264956p.?c.1887-1G>AUnknown
LNX1ENSG00000072201ENST00000306888p.R332Hc.995G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.V3540Ec.10619T>ASubstitution - Missense
XM_036729.3p.S190Fc.569C>TSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.A517Ac.1551C>ASubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.S633Ac.1897T>GSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.S564Ic.1691G>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.S615Ic.1844G>TSubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G1810Gc.5430C>TSubstitution - coding silent
HNRNPABENSG00000197451ENST00000358344p.G304_P305insYGc.912_913insTACGGCInsertion - In frame
KCNIP1ENSG00000182132ENST00000377360p.H93Rc.278A>GSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.F1625Lc.4875T>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.K1260Qc.3778A>CSubstitution - Missense
EPHB3ENSG00000182580ENST00000330394p.P859Sc.2575C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.S1833Lc.5498C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.S1833Lc.5498C>TSubstitution - Missense
POLR1CENSG00000171453ENST00000372389p.I239Vc.715A>GSubstitution - Missense
POLR1CENSG00000171453ENST00000304004p.I239Vc.715A>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.S1719Lc.5156C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.S1719Lc.5156C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.V612Lc.1834G>CSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.V612Lc.1834G>CSubstitution - Missense
DIP2CENSG00000151240ENST00000423550p.?c.86-4G>TUnknown
ENST00000302418_v70p.R956*c.2866C>TSubstitution - Nonsense
INPP5FENSG00000198825ENST00000369080p.K179Nc.537G>TSubstitution - Missense
ENST00000325103_v70p.C471Sc.1411T>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Wc.742C>TSubstitution - Missense
OR8K1ENSG00000150261ENST00000279783p.L121Lc.363A>CSubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.K1204Nc.3612A>TSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000370217p.K46Rc.137A>GSubstitution - Missense
TMEM150AENSG00000168890ENST00000334462p.L189Rc.566T>GSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.T787Mc.2360C>TSubstitution - Missense
PWP2ENSG00000241945ENST00000291576p.R17Hc.50G>ASubstitution - Missense
MST1RENSG00000164078ENST00000296474p.T449Tc.1347T>CSubstitution - coding silent
CCT8ENSG00000156261ENST00000286788p.Y351Hc.1051T>CSubstitution - Missense
BTN2A1ENSG00000112763ENST00000312541p.D340Dc.1020T>CSubstitution - coding silent
ENST00000221204p.A249Sc.745G>TSubstitution - Missense
SNRPD1ENSG00000167088ENST00000300413p.N63Sc.188A>GSubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.S264Wc.791C>GSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.N519Kc.1557T>GSubstitution - Missense
PDE11AENSG00000128655ENST00000358450p.N269Kc.807T>GSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.E2695Kc.8083G>ASubstitution - Missense
C16orf96ENSG00000205832ENST00000444310p.V196Vc.588T>ASubstitution - coding silent
MEFVENSG00000103313ENST00000541159p.S395Rc.1185C>ASubstitution - Missense
ARMC5ENSG00000140691ENST00000408912p.Q306Rc.917A>GSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.E516fs*17c.1547_1550delAAAGDeletion - Frameshift
C2orf53ENSG00000186143ENST00000335524p.V247fs*48c.738delCDeletion - Frameshift
ZNF534ENSG00000198633ENST00000332323p.V663Vc.1989A>TSubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.D785Nc.2353G>ASubstitution - Missense
ACSF3ENSG00000176715ENST00000317447p.V109Ic.325G>ASubstitution - Missense
CYBAENSG00000051523ENST00000261623p.K58Ec.172A>GSubstitution - Missense
SLC5A4ENSG00000100191ENST00000266086p.P129Pc.387G>ASubstitution - coding silent
ARFGAP1ENSG00000101199ENST00000370275p.E315Ec.945A>GSubstitution - coding silent
SLC17A9ENSG00000101194ENST00000370351p.A251Ac.753A>CSubstitution - coding silent
TRAPPC12ENSG00000171853ENST00000382110p.R588Qc.1763G>ASubstitution - Missense
GTF2E2ENSG00000197265ENST00000355904p.V253Ac.758T>CSubstitution - Missense
TRMT44ENSG00000155275ENST00000513449p.I3Mc.9C>GSubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.V306Ic.916G>ASubstitution - Missense
DMDENSG00000198947ENST00000357033p.L982*c.2945T>ASubstitution - Nonsense
HGSNATENSG00000165102ENST00000458501p.W368Sc.1103G>CSubstitution - Missense
HGSNATENSG00000165102ENST00000297798p.W72Sc.215G>CSubstitution - Missense
RNF170ENSG00000120925ENST00000319104p.P74Lc.221C>TSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.D411Hc.1231G>CSubstitution - Missense
ZNF587ENSG00000198466ENST00000339656p.P379Sc.1135C>TSubstitution - Missense
NM_014501.1p.P188Lc.563C>TSubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.T647Tc.1941C>ASubstitution - coding silent
PDCL3ENSG00000115539ENST00000264254p.?c.5_7-3del3429Unknown
ESRP2ENSG00000103067ENST00000473183p.R286Cc.856C>TSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.R286Cc.856C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.R2569Hc.7706G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.N2356Dc.7066A>GSubstitution - Missense
CAMK2DENSG00000145349ENST00000342666p.L16Vc.46C>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.I1223Tc.3668T>CSubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.?c.596-9G>AUnknown
AKAP12ENSG00000131016ENST00000402676p.T767Mc.2300C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.R608Cc.1822C>TSubstitution - Missense
NHSENSG00000188158ENST00000398097p.I228Ic.684C>TSubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.L1305Lc.3915C>TSubstitution - coding silent
LIMD1ENSG00000144791ENST00000273317p.P71Sc.211C>TSubstitution - Missense
KALRNENSG00000160145ENST00000240874p.N728Nc.2184C>TSubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.N728Nc.2184C>TSubstitution - coding silent
PRPF4BENSG00000112739ENST00000337659p.S225Tc.674G>CSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.N2122Sc.6365A>GSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.L795Vc.2383C>GSubstitution - Missense
RELNENSG00000189056ENST00000343529p.N2268Kc.6804T>ASubstitution - Missense
REXO1ENSG00000079313ENST00000170168p.T1157Tc.3471C>ASubstitution - coding silent
UGGT1ENSG00000136731ENST00000259253p.R454Qc.1361G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000336783p.?c.616+2T>GUnknown
ZNF43ENSG00000198521ENST00000354959p.R67Wc.199A>TSubstitution - Missense
ESYT3ENSG00000158220ENST00000389567p.I308Ic.924C>ASubstitution - coding silent
IGSF11ENSG00000144847ENST00000393775p.L16Vc.46C>GSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.V61Fc.181G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.?c.6167-4G>TUnknown
TBC1D19ENSG00000109680ENST00000264866p.K96Tc.287A>CSubstitution - Missense
C1orf167ENSG00000215910ENST00000312793p.A28Vc.83C>TSubstitution - Missense
RAB35ENSG00000111737ENST00000432953p.H39Yc.115C>TSubstitution - Missense
B4GALT2ENSG00000117411ENST00000309519p.Y257Sc.770A>CSubstitution - Missense
B4GALT2ENSG00000117411ENST00000356836p.Y228Sc.683A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.?c.11797-4C>GUnknown
MACF1ENSG00000127603ENST00000361689p.?c.10291-4C>GUnknown
CCNDBP1ENSG00000166946ENST00000300213p.P80Sc.238C>TSubstitution - Missense
CCNDBP1ENSG00000166946ENST00000300213p.I241Tc.722T>CSubstitution - Missense
CCNDBP1ENSG00000166946ENST00000300213p.L245Fc.733C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.A1281Gc.3842C>GSubstitution - Missense
NINENSG00000100503ENST00000382041p.?c.6079-2A>GUnknown
MROH7ENSG00000184313ENST00000421030p.L550Fc.1648C>TSubstitution - Missense
ENST00000266524p.Y233Hc.697T>CSubstitution - Missense
ENST00000266524p.Y710Cc.2129A>GSubstitution - Missense
MYO5AENSG00000197535ENST00000399231p.R623Kc.1868G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.?c.6953-1G>AUnknown
IL23RENSG00000162594ENST00000347310p.S581Rc.1741A>CSubstitution - Missense
USP1ENSG00000162607ENST00000371146p.P571Pc.1713A>TSubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.Q586delQc.1753_1755delCAGDeletion - In frame
KCNK10ENSG00000100433ENST00000312350p.P46Pc.138G>TSubstitution - coding silent
KCNK10ENSG00000100433ENST00000340700p.P41Pc.123G>TSubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.L1200Mc.3598C>ASubstitution - Missense
CLSTN1ENSG00000171603ENST00000377298p.H417Qc.1251C>GSubstitution - Missense
CA6ENSG00000131686ENST00000377443p.K295Nc.885G>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.I568Nc.1703T>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H1256Hc.3768C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.H1256Hc.3768C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S5735Fc.17204C>TSubstitution - Missense
ENST00000331986p.A3643Ac.10929A>GSubstitution - coding silent
MAFENSG00000178573ENST00000326043p.V271Lc.811G>TSubstitution - Missense
APOBENSG00000084674ENST00000233242p.L133Pc.398T>CSubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.S81Sc.243G>ASubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.?c.1401+1G>AUnknown
RALGAPA2ENSG00000188559ENST00000202677p.?c.1401+1G>AUnknown
RALGAPA2ENSG00000188559ENST00000430436p.?c.851+1G>AUnknown
RHOXF2ENSG00000131721ENST00000371388p.E76_G82delEEKDGGGc.199_219del21Deletion - In frame
ARMC1ENSG00000104442ENST00000276569p.A197Ec.590C>ASubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.T317Mc.950C>TSubstitution - Missense
H2BFMENSG00000101812ENST00000243297p.T201Tc.603C>TSubstitution - coding silent
ERCC6L2ENSG00000182150ENST00000288985p.I486fs*36c.1457delTDeletion - Frameshift
ARHGEF18ENSG00000104880ENST00000319670p.L354Fc.1062G>CSubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.Q787Qc.2361A>GSubstitution - coding silent
CD33ENSG00000105383ENST00000262262p.F61Lc.183C>GSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.R1736Rc.5208G>TSubstitution - coding silent
PPAP2CENSG00000141934ENST00000327790p.S187Lc.560C>TSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.M784fs*1c.2345delCDeletion - Frameshift
BCAS1ENSG00000064787ENST00000411563p.A47Ac.141T>CSubstitution - coding silent
TSHZ2ENSG00000182463ENST00000371497p.C280Yc.839G>ASubstitution - Missense
PGM5ENSG00000154330ENST00000396396p.?c.1159+10G>AUnknown
GNEENSG00000159921ENST00000396594p.H312Hc.936C>TSubstitution - coding silent
MELKENSG00000165304ENST00000298048p.L320Hc.959T>ASubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.Y261Yc.783C>TSubstitution - coding silent
CDH17ENSG00000079112ENST00000027335p.L539Lc.1617A>GSubstitution - coding silent
PEBP4ENSG00000134020ENST00000256404p.R111Rc.333A>GSubstitution - coding silent
ENST00000436173p.P992Rc.2975C>GSubstitution - Missense
GUCY2DENSG00000132518ENST00000254854p.V973Lc.2917G>TSubstitution - Missense
PIPOXENSG00000179761ENST00000323372p.L361fs*3c.1079_1080insTInsertion - Frameshift
C17orf51ENSG00000212719ENST00000391411p.D155fs*44c.465_469delCAAGADeletion - Frameshift
ENST00000391411_v68p.D155fs*44c.465_469delCAAGADeletion - Frameshift
GCDHENSG00000105607ENST00000222214p.S305Sc.915G>ASubstitution - coding silent
NM_032301.1p.C52Fc.155G>TSubstitution - Missense
ZNF442ENSG00000198342ENST00000242804p.P15Pc.45T>CSubstitution - coding silent
METTL4ENSG00000101574ENST00000574538p.D397Yc.1189G>TSubstitution - Missense
EIF2AK3ENSG00000172071ENST00000303236p.N509Nc.1527T>CSubstitution - coding silent
NM_006218.1p.C420Rc.1258T>CSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.R745*c.2233C>TSubstitution - Nonsense
ENST00000545858p.R155Wc.463C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense
GBP6ENSG00000183347ENST00000370456p.D354Nc.1060G>ASubstitution - Missense
EXTL1ENSG00000158008ENST00000374280p.R191Wc.571C>TSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.P278Pc.834C>ASubstitution - coding silent
SLFN12ENSG00000172123ENST00000394562p.I338Mc.1014C>GSubstitution - Missense
SELPLGENSG00000110876ENST00000388962p.T147Tc.441G>CSubstitution - coding silent
TSC22D1ENSG00000102804ENST00000458659p.S826Cc.2477C>GSubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.K1204Nc.3612A>TSubstitution - Missense
PAN2ENSG00000135473ENST00000440411p.T205Kc.614C>ASubstitution - Missense
HS6ST3ENSG00000185352ENST00000376705p.P450Pc.1350C>ASubstitution - coding silent
PAPSS2ENSG00000198682ENST00000361175p.?c.865+4T>CUnknown
ITIH5ENSG00000123243ENST00000256861p.D120Ec.360T>GSubstitution - Missense
ITIH5ENSG00000123243ENST00000397145p.D120Ec.360T>GSubstitution - Missense
ITIH5ENSG00000123243ENST00000397146p.D120Ec.360T>GSubstitution - Missense
SUSD4ENSG00000143502ENST00000343846p.K285Kc.855G>ASubstitution - coding silent
HHIPL2ENSG00000143512ENST00000343410p.M710Ic.2130G>TSubstitution - Missense
DDX25ENSG00000109832ENST00000263576p.I123fs*8c.366delADeletion - Frameshift
NM_013264.2p.I9fs*8c.24delADeletion - Frameshift
SBF2ENSG00000133812ENST00000256190p.Q205Kc.613C>ASubstitution - Missense
HELLSENSG00000119969ENST00000348459p.K113Rc.338A>GSubstitution - Missense
MADDENSG00000110514ENST00000311027p.L1122*c.3365T>ASubstitution - Nonsense
DDB2ENSG00000134574ENST00000256996p.R302Rc.906G>TSubstitution - coding silent
KIAA1199ENSG00000103888ENST00000356249p.G59Gc.177C>TSubstitution - coding silent
RASGRF1ENSG00000058335ENST00000419573p.?c.2902-5G>AUnknown
OR10AD1ENSG00000172640ENST00000310248p.I7Tc.20T>CSubstitution - Missense
SLCO1C1ENSG00000139155ENST00000266509p.L656fs*1c.1965delCDeletion - Frameshift
ACTN2ENSG00000077522ENST00000366578p.T713Tc.2139G>CSubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000366630p.D1364Vc.4091A>TSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.Q677Qc.2031G>ASubstitution - coding silent
NM_017449p.Q676Qc.2028G>ASubstitution - coding silent
FCHSD2ENSG00000137478ENST00000409418p.K246Ec.736A>GSubstitution - Missense
NM_014824.1p.K190Ec.568A>GSubstitution - Missense
ENST00000408907_v68p.H235Rc.704A>GSubstitution - Missense
PSMB11ENSG00000222028ENST00000408907p.H235Rc.704A>GSubstitution - Missense
ENST00000250479p.H235Rc.704A>GSubstitution - Missense
ENST00000264546_v70p.R23Sc.69G>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.P4194Pc.12582C>ASubstitution - coding silent
OR4D11ENSG00000176200ENST00000313253p.T208Sc.623C>GSubstitution - Missense
ITGBL1ENSG00000198542ENST00000376180p.D187Gc.560A>GSubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.?c.3660+2T>AUnknown
KRTAP5-10ENSG00000204572ENST00000398531p.S106Sc.318T>CSubstitution - coding silent
HPS1ENSG00000107521ENST00000325103p.C471Sc.1411T>ASubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.D1342_R1347delDRDRERc.4026_4043del18Deletion - In frame
DCDC2BENSG00000222046ENST00000409358p.K166Kc.498G>ASubstitution - coding silent
DARS2ENSG00000117593ENST00000361951p.F287Lc.859T>CSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.L1815Lc.5443C>TSubstitution - coding silent
INSCENSG00000188487ENST00000379554p.D333Ec.999C>ASubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.L279Mc.835C>ASubstitution - Missense
NCAM1ENSG00000149294ENST00000316851p.A815Ec.2444C>ASubstitution - Missense
ENST00000433634p.A280Ec.839C>ASubstitution - Missense
YAP1ENSG00000137693ENST00000526343p.?c.322-7C>TUnknown
ARHGEF12ENSG00000196914ENST00000397843p.V912Vc.2736G>CSubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.T2306Tc.6918A>TSubstitution - coding silent
ARHGAP22ENSG00000128805ENST00000417912p.P93Sc.277C>TSubstitution - Missense
C1QTNF8ENSG00000184471ENST00000328449p.D131Dc.393C>TSubstitution - coding silent
CLEC16AENSG00000038532ENST00000409790p.R443Hc.1328G>ASubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.K120Rc.359A>GSubstitution - Missense
ANK3ENSG00000151150ENST00000355288p.S723Tc.2167T>ASubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.A841Vc.2522C>TSubstitution - Missense


COSMIC

2 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
NM_006218.1p.C420Rc.?Substitution - Missense19372580
TP53ENSG00000141510ENST00000269305p.R248Wc.?Substitution - Missense19372580