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NCI-H2029 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

703 mutations reported
245 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
SORCS1ENSG00000108018ENST00000344440p.?c.2189+9G>TUnknown
SRRM4ENSG00000139767ENST00000267260p.Y490Yc.1470C>TSubstitution - coding silent
WWOXENSG00000186153ENST00000566780p.R188Pc.563G>CSubstitution - Missense
SU_WNK2p.?c.6071-9C>TUnknown
ANKRD36CENSG00000174501ENST00000456556p.A1620Ac.4860T>CSubstitution - coding silent
ENST00000309710p.D205Nc.613G>ASubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.E1843Vc.5528A>TSubstitution - Missense
ENST00000356127p.A18891Ac.56673C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.A12588Ac.37764C>ASubstitution - coding silent
IMPG2ENSG00000081148ENST00000193391p.E1010Gc.3029A>GSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.Q777Hc.2331A>TSubstitution - Missense
C2orf50ENSG00000150873ENST00000381585p.M142Ic.426G>ASubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.P54fs*32c.161delCDeletion - Frameshift
PRR5ENSG00000186654ENST00000432186p.V117Mc.349G>ASubstitution - Missense
ZNF14ENSG00000105708ENST00000344099p.F232Fc.696T>CSubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.D689Dc.2067C>TSubstitution - coding silent
PCDHGA7ENSG00000253537ENST00000518325p.G624Gc.1872C>TSubstitution - coding silent
XKR6ENSG00000171044ENST00000416569p.T619Tc.1857C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.A314Ac.942C>ASubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.T1426fs*8c.4255_4256ins19Insertion - Frameshift
RYR2ENSG00000198626ENST00000360064p.K2714Ic.8141A>TSubstitution - Missense
TUBA1CENSG00000167553ENST00000301072p.M313Ic.939G>TSubstitution - Missense
SLCO1C1ENSG00000139155ENST00000266509p.H107Yc.319C>TSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.T354Rc.1061C>GSubstitution - Missense
C14orf2ENSG00000156411ENST00000286953p.Q3Pc.8A>CSubstitution - Missense
VPS26BENSG00000151502ENST00000281187p.A310Ac.930C>GSubstitution - coding silent
DNAH2ENSG00000183914ENST00000570791p.S767fs*16c.2299_2300delTCDeletion - Frameshift
SEBOX,VTNENSG00000109072ENST00000431468p.R147Cc.439C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.T527Mc.1580C>TSubstitution - Missense
ENST00000273600p.E193Kc.577G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2884Tc.8652C>GSubstitution - coding silent
MPP6ENSG00000105926ENST00000396475p.F24Lc.72C>ASubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.A704Gc.2111C>GSubstitution - Missense
NSMCE1ENSG00000169189ENST00000361439p.T12Sc.35C>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.M4219Ic.12657G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.?c.2872-3C>AUnknown
UBR4ENSG00000127481ENST00000375267p.P5204Tc.15610C>ASubstitution - Missense
CBFA2T2ENSG00000078699ENST00000397798p.?c.119-2A>TUnknown
MUC12ENSG00000205277ENST00000379442p.S1149Pc.3445T>CSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.?c.5571-8C>TUnknown
FAM166BENSG00000215187ENST00000399742p.E151Dc.453G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.G1758fs*28c.5270_5271insCGInsertion - Frameshift
ALDH3B2ENSG00000132746ENST00000530069p.?c.319+6G>AUnknown
LCMT2ENSG00000168806ENST00000305641p.Y358Yc.1074T>CSubstitution - coding silent
ECM1ENSG00000143369ENST00000369049p.G23Vc.68G>TSubstitution - Missense
ENSG00000212743ENST00000391437p.T35Sc.103A>TSubstitution - Missense
ACTL8ENSG00000117148ENST00000375406p.E191Kc.571G>ASubstitution - Missense
TMCO4ENSG00000162542ENST00000294543p.I410Fc.1228A>TSubstitution - Missense
BRDTENSG00000137948ENST00000362005p.L365Pc.1094T>CSubstitution - Missense
RPUSD2ENSG00000166133ENST00000315616p.E136Dc.408G>TSubstitution - Missense
ENST00000380086p.I265Vc.793A>GSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.S239Sc.717G>TSubstitution - coding silent
ZNF251ENSG00000198169ENST00000292562p.Y528Cc.1583A>GSubstitution - Missense
RAB10ENSG00000084733ENST00000264710p.D125fs*6c.374_384del11Deletion - Frameshift
SFI1ENSG00000198089ENST00000400288p.L86Rc.257T>GSubstitution - Missense
ENST00000438073p.E11*c.31G>TSubstitution - Nonsense
FLNAENSG00000196924ENST00000369850p.Y1511Dc.4531T>GSubstitution - Missense
PRR5ENSG00000186654ENST00000336985p.V126Mc.376G>ASubstitution - Missense
ENST00000317082p.E907Ec.2721G>ASubstitution - coding silent
NRCAMENSG00000091129ENST00000379028p.M181Tc.542T>CSubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.V71Ic.211G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.V474Gc.1421T>GSubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.V208Vc.624G>CSubstitution - coding silent
OR4A5ENSG00000221840ENST00000319760p.D68Yc.202G>TSubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.G951Ac.2852G>CSubstitution - Missense
COBLENSG00000106078ENST00000395542p.G924Cc.2770G>TSubstitution - Missense
SELPLGENSG00000110876ENST00000388962p.G372Vc.1115G>TSubstitution - Missense
ORMDL2ENSG00000123353ENST00000243045p.G149Sc.445G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T5481Mc.16442C>TSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.?c.4548_4561+47del61Unknown
SYT16ENSG00000139973ENST00000430451p.K114Rc.341A>GSubstitution - Missense
CD209ENSG00000090659ENST00000315599p.?c.900+7C>AUnknown
COL18A1ENSG00000182871ENST00000355480p.T292Mc.875C>TSubstitution - Missense
ENST00000292562_v68p.Y571Cc.1712A>GSubstitution - Missense
HNRNPDENSG00000138668ENST00000353341p.T229Ac.685A>GSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.G83Rc.247G>CSubstitution - Missense
RSPH3ENSG00000130363ENST00000252655p.A104Ac.312G>TSubstitution - coding silent
TIAM2ENSG00000146426ENST00000318981p.V1477Ic.4429G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000195173p.S1053Pc.3157T>CSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.P619Ac.1855C>GSubstitution - Missense
POTEJENSG00000222038ENST00000409602p.P921Sc.2761C>TSubstitution - Missense
AQP1ENSG00000240583ENST00000311813p.G219Wc.655G>TSubstitution - Missense
MAP4K4ENSG00000071054ENST00000350878p.P482Pc.1446G>TSubstitution - coding silent
MAP4K4ENSG00000071054ENST00000350198p.P502Pc.1506G>TSubstitution - coding silent
ERBB3ENSG00000065361ENST00000267101p.N369Sc.1106A>GSubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.C327Gc.979T>GSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.I656Vc.1966A>GSubstitution - Missense
ENST00000358254p.K114Rc.341A>GSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.A1475Ac.4425A>CSubstitution - coding silent
MAP2ENSG00000078018ENST00000360351p.S930Tc.2789G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2278Fc.6832C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.H4215Hc.12645C>TSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.A820Ec.2459C>ASubstitution - Missense
SLC38A11ENSG00000169507ENST00000303735p.S56Sc.168T>CSubstitution - coding silent
DDX60LENSG00000181381ENST00000260184p.?c.4221+7T>CUnknown
SYNE1ENSG00000131018ENST00000341594p.T4449Tc.13347C>TSubstitution - coding silent
ENST00000298953_v70p.K563*c.1687A>TSubstitution - Nonsense
SLCO1C1ENSG00000139155ENST00000381552p.H107Yc.319C>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.?c.744+7T>CUnknown
MRTO4ENSG00000053372ENST00000330263p.L156Pc.467T>CSubstitution - Missense
KCNH5ENSG00000140015ENST00000394968p.E285*c.853G>TSubstitution - Nonsense
L1TD1ENSG00000240563ENST00000498273p.P410_E419>EASGLEEDc.1227_1257>25Complex - deletion inframe
TMEM169ENSG00000163449ENST00000295658p.M221Vc.661A>GSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000375279p.?c.206-2A>TUnknown
FBP1ENSG00000165140ENST00000375326p.Y280Yc.840C>TSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.Q291Hc.873G>TSubstitution - Missense
ATP6V0A4ENSG00000105929ENST00000393054p.I391Ic.1173A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G13478Ec.40433G>ASubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.G685Gc.2055G>ASubstitution - coding silent
ENST00000405167p.T2884Tc.8652C>GSubstitution - coding silent
PPA2ENSG00000138777ENST00000341695p.R239Kc.716G>ASubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.*2105*c.6314A>GSubstitution - coding silent
STARD8ENSG00000130052ENST00000252336p.Y791Hc.2371T>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R399Rc.1197G>ASubstitution - coding silent
FUKENSG00000157353ENST00000378912p.E51Gc.152A>GSubstitution - Missense
OR2H1ENSG00000204688ENST00000377132p.K261Qc.781A>CSubstitution - Missense
ZNF354BENSG00000178338ENST00000322434p.I538Tc.1613T>CSubstitution - Missense
SCAIENSG00000173611ENST00000373549p.F118Fc.354T>CSubstitution - coding silent
ENST00000373969p.L345Lc.1035G>TSubstitution - coding silent
ETV5ENSG00000244405ENST00000306376p.A405Vc.1214C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375225p.P246Ac.736C>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.H681Nc.2041C>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.V155Vc.465G>CSubstitution - coding silent
CEP55ENSG00000138180ENST00000371485p.K11*c.31A>TSubstitution - Nonsense
RRM1ENSG00000167325ENST00000300738p.S521Nc.1562G>ASubstitution - Missense
CCER1ENSG00000197651ENST00000358859p.E351*c.1051G>TSubstitution - Nonsense
SU_QSKp.P1107Sc.3319C>TSubstitution - Missense
DDX58ENSG00000107201ENST00000379883p.C864fs*10c.2586_2587insTTCTInsertion - Frameshift
CCDC178ENSG00000166960ENST00000383096p.E560Kc.1678G>ASubstitution - Missense
NM_145686p.P533Pc.1599G>TSubstitution - coding silent
ENST00000317082_v61p.E907Ec.2721G>ASubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.A704Gc.2111C>GSubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.S534Pc.1600T>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R399Rc.1197G>ASubstitution - coding silent
PDE6AENSG00000132915ENST00000255266p.Y583Cc.1748A>GSubstitution - Missense
NRCAMENSG00000091129ENST00000351718p.M175Tc.524T>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.Q29Lc.86A>TSubstitution - Missense
SLC7A4ENSG00000099960ENST00000382932p.E226Vc.677A>TSubstitution - Missense
PPAP2AENSG00000067113ENST00000264775p.G232Ec.695G>ASubstitution - Missense
KLRC2ENSG00000205809ENST00000381901p.?c.484-3T>CUnknown
ETV5ENSG00000244405ENST00000537818p.A447Vc.1340C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A1914Ac.5742G>CSubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.V542Gc.1625T>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.A4604Ac.13812G>CSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.Y220Dc.658T>GSubstitution - Missense
STRCENSG00000242866ENST00000450892p.R1154*c.3460C>TSubstitution - Nonsense
CACNA1CENSG00000151067ENST00000402845p.P130Qc.389C>ASubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
NM_001002762.1p.?c.833+9A>GUnknown
KNTC1ENSG00000184445ENST00000333479p.D2170Yc.6508G>TSubstitution - Missense
MIPEPENSG00000027001ENST00000382172p.?c.1053+8T>AUnknown
NUTM1ENSG00000184507ENST00000333756p.Q968Rc.2903A>GSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.F1530Fc.4590C>TSubstitution - coding silent
NM_007195.1p.R437Hc.1310G>ASubstitution - Missense
ARHGEF38ENSG00000236699ENST00000265154p.E73Vc.218A>TSubstitution - Missense
ENST00000405167p.T1838Ac.5512A>GSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.Y1511Dc.4531T>GSubstitution - Missense
DTX3LENSG00000163840ENST00000296161p.T97Tc.291G>ASubstitution - coding silent
ENST00000409602_v68p.P921Sc.2761C>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.S537Pc.1609T>CSubstitution - Missense
NRCAMENSG00000091129ENST00000379022p.M181Tc.542T>CSubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.A405Vc.1214C>TSubstitution - Missense
ARSDENSG00000006756ENST00000381154p.Q431Hc.1293G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.G1488fs*28c.4457_4458insGCInsertion - Frameshift
ENST00000450802_v68p.L234Hc.701T>ASubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.T572Tc.1716C>ASubstitution - coding silent
KCNA4ENSG00000182255ENST00000328224p.R68Lc.203G>TSubstitution - Missense
SSTR5ENSG00000162009ENST00000397547p.R322Cc.964C>TSubstitution - Missense
ALDH4A1ENSG00000159423ENST00000290597p.?c.297+7G>AUnknown
CRB1ENSG00000134376ENST00000367400p.N689Kc.2067C>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.R2516Cc.7546C>TSubstitution - Missense
ENST00000298047_v61p.L746Mc.2236C>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.V1038Fc.3112G>TSubstitution - Missense
CD209ENSG00000090659ENST00000315599p.?c.900+7C>AUnknown
PTCH1ENSG00000185920ENST00000331920p.?c.2561-1G>AUnknown
SYT3ENSG00000213023ENST00000338916p.D390Hc.1168G>CSubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.I169Mc.507A>GSubstitution - Missense
ENST00000405167p.T1988Tc.5964C>GSubstitution - coding silent
NM_206943.1p.Q555Hc.1665G>CSubstitution - Missense
DRD5ENSG00000169676ENST00000304374p.C459*c.1377C>ASubstitution - Nonsense
NYAP2ENSG00000144460ENST00000272907p.R224Lc.671G>TSubstitution - Missense
NM_014614.1p.P1046Rc.3137C>GSubstitution - Missense
ENST00000373468p.E228Kc.682G>ASubstitution - Missense
ENST00000352736p.P243Sc.727C>TSubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.K211*c.631A>TSubstitution - Nonsense
CSMD3ENSG00000164796ENST00000297405p.H1054Yc.3160C>TSubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.A723Tc.2167G>ASubstitution - Missense
FAM134BENSG00000154153ENST00000306320p.A61Vc.182C>TSubstitution - Missense
BAG6ENSG00000204463ENST00000375976p.L548Lc.1644T>GSubstitution - coding silent
PSG8ENSG00000124467ENST00000306511p.S353Sc.1059C>TSubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.A734Vc.2201C>TSubstitution - Missense
SLC25A31ENSG00000151475ENST00000281154p.V143Lc.427G>CSubstitution - Missense
ZNF114ENSG00000178150ENST00000315849p.A229Vc.686C>TSubstitution - Missense
IL2RBENSG00000100385ENST00000216223p.L531Vc.1591C>GSubstitution - Missense
ANKRD40ENSG00000154945ENST00000285243p.I267fs*52c.799delADeletion - Frameshift
NOS3ENSG00000164867ENST00000297494p.E206Gc.617A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.2872-3C>AUnknown
LPHN3ENSG00000150471ENST00000512091p.V474Gc.1421T>GSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.L746Mc.2236C>ASubstitution - Missense
ENST00000380369p.I264Nc.791T>ASubstitution - Missense
SLC38A11ENSG00000169507ENST00000409149p.S56Sc.168T>CSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.P100Qc.299C>ASubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.E871Dc.2613G>TSubstitution - Missense
RBM15ENSG00000162775ENST00000369784p.S158Ac.472T>GSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.G253Gc.759G>ASubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.V1038Fc.3112G>TSubstitution - Missense
FAM189A2ENSG00000135063ENST00000257515p.L96Lc.288G>ASubstitution - coding silent
SPAM1ENSG00000106304ENST00000340011p.?c.1044+6T>GUnknown
CPDENSG00000108582ENST00000225719p.?c.3817-6T>GUnknown
ENST00000420871_v68p.A871Ac.2613T>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.G7106Ec.21317G>ASubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.C951Yc.2852G>ASubstitution - Missense
SU_NEK10p.A196fs*19c.586delGDeletion - Frameshift
KCNU1ENSG00000215262ENST00000399881p.D698Yc.2092G>TSubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.?c.876-9C>TUnknown
EIF4EBP1ENSG00000187840ENST00000338825p.P66Tc.196C>ASubstitution - Missense
GPR149ENSG00000174948ENST00000389740p.F348Cc.1043T>GSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000449726p.E480Vc.1439A>TSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.I1634Nc.4901T>ASubstitution - Missense
SHPRHENSG00000146414ENST00000438092p.I1638Nc.4913T>ASubstitution - Missense
ILDR1ENSG00000145103ENST00000344209p.K307Kc.921A>GSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.L3063Lc.9187T>CSubstitution - coding silent
NM_016125.2p.Q7Qc.21A>GSubstitution - coding silent
HARSENSG00000170445ENST00000504156p.D64_S66>ELc.192_198CTATAGT>ACTGComplex - deletion inframe
FUKENSG00000157353ENST00000288078p.E51Gc.152A>GSubstitution - Missense
OR1I1ENSG00000094661ENST00000209540p.G189Sc.565G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.V656Lc.1966G>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.Q291Hc.873G>TSubstitution - Missense
NOL8ENSG00000198000ENST00000545558p.P269Tc.805C>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.G951Ac.2852G>CSubstitution - Missense
ENST00000349637p.T5436Mc.16307C>TSubstitution - Missense
ENST00000451458p.Q295Rc.884A>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.Q1361Hc.4083G>CSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.V87Mc.259G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.G986Gc.2958G>TSubstitution - coding silent
ENST00000299644p.R31Pc.92G>CSubstitution - Missense
ACTRT1ENSG00000123165ENST00000371124p.L307Fc.919C>TSubstitution - Missense
KCNC3ENSG00000131398ENST00000477616p.L398Lc.1194C>TSubstitution - coding silent
BRWD1ENSG00000185658ENST00000333229p.I771Mc.2313A>GSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.P1107Pc.3321G>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.V474Gc.1421T>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
ANXA10ENSG00000109511ENST00000359299p.L313Lc.937C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.Q1361Hc.4083G>CSubstitution - Missense
ENST00000452401p.D216Dc.648C>TSubstitution - coding silent
CLASP2ENSG00000163539ENST00000480013p.S407Sc.1221A>GSubstitution - coding silent
THSD7BENSG00000144229ENST00000413152p.P303Hc.908C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A4747Ac.14241G>CSubstitution - coding silent
TTC24ENSG00000187862ENST00000368237p.R309Qc.926G>ASubstitution - Missense
SSTR5ENSG00000162009ENST00000397547p.I224Ic.672C>TSubstitution - coding silent
NDNFENSG00000173376ENST00000379692p.R266Cc.796C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.R2408Hc.7223G>ASubstitution - Missense
ZAR1LENSG00000189167ENST00000345108p.A192Dc.575C>ASubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.C471Sc.1412G>CSubstitution - Missense
CDONENSG00000064309ENST00000263577p.G80Gc.240G>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.P100Qc.299C>ASubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.I98Lc.292A>CSubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.R223Gc.667A>GSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.G874Gc.2622G>TSubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.C261*c.783C>ASubstitution - Nonsense
ERBB4ENSG00000178568ENST00000402597p.E1090Dc.3270G>TSubstitution - Missense
ENSG00000183470ENST00000332558p.T132Kc.395C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.Y25730Cc.77189A>GSubstitution - Missense
SIGLEC12ENSG00000254521ENST00000291707p.N525Sc.1574A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.S1006Pc.3016T>CSubstitution - Missense
NM_001184p.H1684Hc.5052T>CSubstitution - coding silent
GIMAP2ENSG00000106560ENST00000223293p.A265Dc.794C>ASubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.V592Lc.1774G>TSubstitution - Missense
ENST00000373263p.G745Vc.2234G>TSubstitution - Missense
LY6G6CENSG00000204421ENST00000375819p.N88Dc.262A>GSubstitution - Missense
PPAP2AENSG00000067113ENST00000307259p.G231Ec.692G>ASubstitution - Missense
HTR1AENSG00000178394ENST00000323865p.A383Ac.1149C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.Y220Dc.658T>GSubstitution - Missense
C8orf48ENSG00000164743ENST00000297324p.T34Tc.102T>ASubstitution - coding silent
OR5AS1ENSG00000181785ENST00000313555p.V15Fc.43G>TSubstitution - Missense
PSEN2ENSG00000143801ENST00000391872p.D88Dc.264C>TSubstitution - coding silent
MATN4ENSG00000124159ENST00000372754p.I536Ic.1608C>TSubstitution - coding silent
ARHGAP35ENSG00000160007ENST00000404338p.E907Ec.2721G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000427277p.?c.4952-9C>TUnknown
PLAAENSG00000137055ENST00000397292p.I322Vc.964A>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.V1506Ic.4516G>ASubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.265-1G>TUnknown
SH2B3ENSG00000111252ENST00000341259p.H366Lc.1097A>TSubstitution - Missense
WNT1ENSG00000125084ENST00000293549p.C170fs*6c.506_507insGInsertion - Frameshift
KRTAP5-6ENSG00000205864ENST00000382160p.G75Ac.224G>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.Y490Yc.1470C>TSubstitution - coding silent
KCNH5ENSG00000140015ENST00000322893p.E343*c.1027G>TSubstitution - Nonsense
ALG13ENSG00000101901ENST00000251943p.S112fs*5c.328_329insAGAAInsertion - Frameshift
APOBENSG00000084674ENST00000233242p.I854Nc.2561T>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.Y220Dc.658T>GSubstitution - Missense
OSR2ENSG00000164920ENST00000457907p.A166Vc.497C>TSubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.I192Vc.574A>GSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.D534Yc.1600G>TSubstitution - Missense
ENST00000356127p.Y32100Cc.96299A>GSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.E267*c.799G>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.L1201Lc.3603T>GSubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.F505Sc.1514T>CSubstitution - Missense
MOGSENSG00000115275ENST00000233616p.R369Tc.1106G>CSubstitution - Missense
TEX33ENSG00000185264ENST00000405091p.P188Pc.564T>ASubstitution - coding silent
ZNF792ENSG00000180884ENST00000404801p.E114*c.340G>TSubstitution - Nonsense
LSM12ENSG00000161654ENST00000293406p.D172Dc.516C>TSubstitution - coding silent
FUKENSG00000157353ENST00000428974p.E51Gc.152A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.A314Ac.942C>ASubstitution - coding silent
VCPENSG00000165280ENST00000358901p.I369Vc.1105A>GSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.T354Rc.1061C>GSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.D161Yc.481G>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.Q1361Hc.4083G>CSubstitution - Missense
TRIM3ENSG00000110171ENST00000525074p.K159*c.475A>TSubstitution - Nonsense
ENST00000280576p.R1108Cc.3322C>TSubstitution - Missense
LCE1EENSG00000186226ENST00000368771p.P12Pc.36C>TSubstitution - coding silent
TRIM46ENSG00000163462ENST00000334634p.T287Sc.859A>TSubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.N82Ic.245A>TSubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.N82Ic.245A>TSubstitution - Missense
CALB1ENSG00000104327ENST00000265431p.S115Tc.344G>CSubstitution - Missense
CCDC178ENSG00000166960ENST00000300227p.E560Kc.1678G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1981Hc.5943C>TSubstitution - coding silent
ENST00000405167p.H1981Hc.5943C>TSubstitution - coding silent
BIVMENSG00000134897ENST00000448849p.Q44Kc.130C>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375225p.P258Tc.772C>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.P5192Ac.15574C>GSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.N620Kc.1860C>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.L1518Lc.4554G>CSubstitution - coding silent
SLFN5ENSG00000166750ENST00000299977p.S312Fc.935C>TSubstitution - Missense
DNAH2ENSG00000183914ENST00000570791p.S767Pc.2299T>CSubstitution - Missense
SUGP2ENSG00000064607ENST00000452918p.R260Lc.779G>TSubstitution - Missense
ENST00000326873_v70p.R310Pc.929G>CSubstitution - Missense
ACSS1ENSG00000154930ENST00000537502p.G444Vc.1331G>TSubstitution - Missense
ACSS1ENSG00000154930ENST00000542618p.G406Vc.1217G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.D689Dc.2067C>TSubstitution - coding silent
THSD7BENSG00000144229ENST00000272643p.P334Hc.1001C>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.N82Ic.245A>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000361291p.A854Ec.2561C>ASubstitution - Missense
XRN1ENSG00000114127ENST00000544157p.G80Vc.239G>TSubstitution - Missense
XRN1ENSG00000114127ENST00000544157p.G80Sc.238G>ASubstitution - Missense
ILDR1ENSG00000145103ENST00000462014p.K275Kc.825A>GSubstitution - coding silent
ENST00000405167p.S2272Pc.6814T>CSubstitution - Missense
PPA2ENSG00000138777ENST00000357415p.R254Kc.761G>ASubstitution - Missense
OR4C46ENSG00000185926ENST00000328188p.N5fs*3c.11delGDeletion - Frameshift
VPS8ENSG00000156931ENST00000287546p.T1426fs*8c.4255_4256ins19Insertion - Frameshift
LPHN3ENSG00000150471ENST00000507625p.V542Vc.1626C>GSubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.V853Ic.2557G>ASubstitution - Missense
PHF14ENSG00000106443ENST00000403050p.R215Pc.644G>CSubstitution - Missense
DGKBENSG00000136267ENST00000258767p.V747Vc.2241C>ASubstitution - coding silent
DGKBENSG00000136267ENST00000258767p.G541Ac.1622G>CSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.?c.5556-8C>TUnknown
WNK2ENSG00000165238ENST00000395477p.?c.6116-9C>TUnknown
KDM6AENSG00000147050ENST00000382899p.?c.876-9C>TUnknown
SESTD1ENSG00000187231ENST00000428443p.Y554Cc.1661A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.G1488fs*28c.4460_4461insCGInsertion - Frameshift
RYR2ENSG00000198626ENST00000366574p.K2716Ic.8147A>TSubstitution - Missense
EFSENSG00000100842ENST00000216733p.V147Fc.439G>TSubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.I723Vc.2167A>GSubstitution - Missense
TRIM64BENSG00000189253ENST00000329862p.R78Rc.234A>GSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.F575Fc.1725T>CSubstitution - coding silent
ERBB4ENSG00000178568ENST00000342788p.E1100Dc.3300G>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.?c.2558-1G>AUnknown
DGKIENSG00000157680ENST00000288490p.Q291Hc.873G>TSubstitution - Missense
WIPF2ENSG00000171475ENST00000323571p.P8Lc.23C>TSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.R326Qc.977G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.T4631Tc.13893C>TSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.S3660Nc.10979G>ASubstitution - Missense
ENST00000373924p.D107Dc.321C>TSubstitution - coding silent
UROC1ENSG00000159650ENST00000290868p.P54fs*32c.161delCDeletion - Frameshift
VPS8ENSG00000156931ENST00000287546p.?c.354-10T>CUnknown
MUC12ENSG00000205277ENST00000536621p.A1771Ac.5313G>CSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.D730Dc.2190C>TSubstitution - coding silent
CBLENSG00000110395ENST00000264033p.K424Tc.1271A>CSubstitution - Missense
GADD45AENSG00000116717ENST00000370986p.Q33Ec.97C>GSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.P1035Lc.3104C>TSubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.E477Vc.1430A>TSubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.H24Hc.72C>TSubstitution - coding silent
XRN1ENSG00000114127ENST00000264951p.G290Sc.868G>ASubstitution - Missense
TSPAN6ENSG00000000003ENST00000373020p.V63Lc.187G>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L3063Lc.9187T>CSubstitution - coding silent
LARSENSG00000133706ENST00000394434p.F851Lc.2551T>CSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.S498Pc.1492T>CSubstitution - Missense
AKT2ENSG00000105221ENST00000392038p.A190Gc.569C>GSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.N1000Sc.2999A>GSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.A743Ac.2229A>GSubstitution - coding silent
MAFBENSG00000204103ENST00000373313p.Y294Yc.882C>TSubstitution - coding silent
SETD2ENSG00000181555ENST00000330022p.R989*c.2965C>TSubstitution - Nonsense
MAN1A1ENSG00000111885ENST00000368466p.K234*c.700A>TSubstitution - Nonsense
SLC18B1ENSG00000146409ENST00000275227p.A40Ac.120A>TSubstitution - coding silent
COL12A1ENSG00000111799ENST00000322507p.?c.4957+5G>CUnknown
OR1E1ENSG00000180016ENST00000322608p.T254Tc.762C>ASubstitution - coding silent
ZNF211ENSG00000121417ENST00000407202p.E35*c.103G>TSubstitution - Nonsense
RNFT1ENSG00000189050ENST00000305783p.Q44Qc.132A>GSubstitution - coding silent
ENSG00000272333ENST00000222270p.E2356Kc.7066G>ASubstitution - Missense
POU4F3ENSG00000091010ENST00000230732p.L53Lc.159G>TSubstitution - coding silent
POU4F3ENSG00000091010ENST00000230732p.L54Lc.160C>TSubstitution - coding silent
TRPM6ENSG00000119121ENST00000451710p.?c.5583-8C>TUnknown
NOL8ENSG00000198000ENST00000442668p.P269Tc.805C>ASubstitution - Missense
AQP1ENSG00000240583ENST00000441328p.G136Wc.406G>TSubstitution - Missense
HTATSF1ENSG00000102241ENST00000535601p.E698Kc.2092G>ASubstitution - Missense
CXorf66ENSG00000203933ENST00000370540p.S174Tc.521G>CSubstitution - Missense
CNGA2ENSG00000183862ENST00000329903p.R617Cc.1849C>TSubstitution - Missense
ENST00000512655p.D64_S66>ELc.192_198CTATAGT>ACTGComplex - deletion inframe
ANKHD1ENSG00000131503ENST00000297183p.S1985Sc.5955C>ASubstitution - coding silent
ANKHD1ENSG00000131503ENST00000360839p.S1985Sc.5955C>ASubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.V616Vc.1848C>TSubstitution - coding silent
ENST00000274705p.V360Fc.1078G>TSubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.A558Ac.1674C>ASubstitution - coding silent
ATP10BENSG00000118322ENST00000327245p.D349Nc.1045G>ASubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.T193Tc.579C>TSubstitution - coding silent
BAG6ENSG00000204463ENST00000404765p.L584Lc.1752T>GSubstitution - coding silent
NM_001007157.1p.R215Pc.644G>CSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.G541Ac.1622G>CSubstitution - Missense
COBLENSG00000106078ENST00000265136p.G842Cc.2524G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.S1053Sc.3159C>GSubstitution - coding silent
RBBP6ENSG00000122257ENST00000319715p.E660Vc.1979A>TSubstitution - Missense
PSG8ENSG00000124467ENST00000404209p.S353Sc.1059C>TSubstitution - coding silent
TOX2ENSG00000124191ENST00000413823p.E150Dc.450G>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.L1177Lc.3531C>TSubstitution - coding silent
ZMYND8ENSG00000101040ENST00000536340p.L1230Lc.3690C>TSubstitution - coding silent
MATN4ENSG00000124159ENST00000372756p.I495Ic.1485C>TSubstitution - coding silent
ARHGAP15ENSG00000075884ENST00000295095p.T324Tc.972A>TSubstitution - coding silent
KDRENSG00000128052ENST00000263923p.K939Rc.2816A>GSubstitution - Missense
C4orf6ENSG00000082929ENST00000195455p.W73Cc.219G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.V474Vc.1422C>GSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.V474Vc.1422C>GSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.V474Vc.1422C>GSubstitution - coding silent
DPP6ENSG00000130226ENST00000377770p.A655Ac.1965G>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000332007p.A593Ac.1779G>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000404039p.A591Ac.1773G>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000332007p.V594Lc.1780G>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
GGT2ENSG00000133475ENST00000401924p.?c.1337-5C>TUnknown
KCNQ3ENSG00000184156ENST00000388996p.G819Vc.2456G>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.T311Tc.933G>ASubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.T311Tc.933G>ASubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.?c.354-10T>CUnknown
CHRDENSG00000090539ENST00000204604p.R620Wc.1858C>TSubstitution - Missense
ENST00000342610p.R333Wc.997C>TSubstitution - Missense
LEPREL1ENSG00000090530ENST00000319332p.R289Gc.865A>GSubstitution - Missense
DNAJB11ENSG00000090520ENST00000439351p.A44Sc.130G>TSubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.*758Lc.2273G>TNonstop extension
MUC12ENSG00000205277ENST00000536621p.A4604Tc.13810G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A4747Tc.14239G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.T4631Tc.13893C>TSubstitution - coding silent
TTC12ENSG00000149292ENST00000314756p.C471Sc.1412G>CSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.V777Lc.2329G>TSubstitution - Missense
OR4C46ENSG00000185926ENST00000328188p.A62Ac.186C>ASubstitution - coding silent
RTN4RL2ENSG00000186907ENST00000335099p.T101Pc.301A>CSubstitution - Missense
ATF7IPENSG00000171681ENST00000543189p.?c.2155+5C>TUnknown
EP400ENSG00000183495ENST00000333577p.R2444Hc.7331G>ASubstitution - Missense
NM_021140.1p.?c.876-9C>TUnknown
AKAP4ENSG00000147081ENST00000358526p.K234*c.700A>TSubstitution - Nonsense
NLRP4ENSG00000160505ENST00000301295p.N70Sc.209A>GSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.F505Sc.1514T>CSubstitution - Missense
ELP5ENSG00000170291ENST00000396628p.P221Pc.663G>ASubstitution - coding silent
ELP5ENSG00000170291ENST00000356683p.P221Pc.663G>ASubstitution - coding silent
CLASP2ENSG00000163539ENST00000333778p.S640Sc.1920A>GSubstitution - coding silent
CLASP2ENSG00000163539ENST00000539981p.S392Sc.1176A>GSubstitution - coding silent
ENST00000333778_v68p.S417Sc.1251A>GSubstitution - coding silent
GPD1LENSG00000152642ENST00000282541p.K226Ec.676A>GSubstitution - Missense
NM_004389.1p.A869Dc.2606C>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.R654Hc.1961G>ASubstitution - Missense
PRSS12ENSG00000164099ENST00000296498p.D594Hc.1780G>CSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.F636Fc.1908T>CSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.V2900Vc.8700C>TSubstitution - coding silent
ENST00000330166p.S3660Nc.10979G>ASubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.S217Ic.650G>TSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.K368Qc.1102A>CSubstitution - Missense
BTNL3ENSG00000168903ENST00000342868p.V463Vc.1389G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T4702Tc.14106C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T4702Tc.14106C>TSubstitution - coding silent
AGPAT4ENSG00000026652ENST00000320285p.A194Ac.582C>ASubstitution - coding silent
PHKA2ENSG00000044446ENST00000379942p.V1082Mc.3244G>ASubstitution - Missense
CXorf21ENSG00000120280ENST00000378962p.R183Lc.548G>TSubstitution - Missense
GMPPAENSG00000144591ENST00000341142p.D177Dc.531C>TSubstitution - coding silent
DESENSG00000175084ENST00000373960p.A368Vc.1103C>TSubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.P1160Rc.3479C>GSubstitution - Missense
PRR5ENSG00000186654ENST00000403581p.V149Mc.445G>ASubstitution - Missense
ANO10ENSG00000160746ENST00000292246p.S318Sc.954C>TSubstitution - coding silent
PRSS42ENSG00000178055ENST00000429665p.T243Sc.727A>TSubstitution - Missense
LARS2ENSG00000011376ENST00000265537p.L879Fc.2635C>TSubstitution - Missense
ENST00000394167p.M528Ic.1584G>TSubstitution - Missense
ZNF12ENSG00000164631ENST00000405858p.?c.239-8C>GUnknown
STARD8ENSG00000130052ENST00000374599p.Y871Hc.2611T>CSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.Y791Hc.2371T>CSubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.V56Vc.168C>TSubstitution - coding silent
ENST00000373468p.S663Gc.1987A>GSubstitution - Missense
SUGP2ENSG00000064607ENST00000337018p.R260Lc.779G>TSubstitution - Missense
PPP1R13LENSG00000104881ENST00000360957p.L493Lc.1479G>TSubstitution - coding silent
DHX34ENSG00000134815ENST00000328771p.T991Mc.2972C>TSubstitution - Missense
ENST00000357909p.I950Ic.2850T>ASubstitution - coding silent
ZNF541ENSG00000118156ENST00000391901p.A647Sc.1939G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.T1429Tc.4287A>TSubstitution - coding silent
THSD7BENSG00000144229ENST00000413152p.T1398Tc.4194A>TSubstitution - coding silent
ILDR1ENSG00000145103ENST00000273691p.K263Kc.789A>GSubstitution - coding silent
RAB6BENSG00000154917ENST00000285208p.E154*c.460G>TSubstitution - Nonsense
XRN1ENSG00000114127ENST00000264951p.G290Vc.869G>TSubstitution - Missense
POU4F2ENSG00000151615ENST00000281321p.A153Ac.459C>ASubstitution - coding silent
HELTENSG00000187821ENST00000338875p.G158*c.472G>TSubstitution - Nonsense
KLKB1ENSG00000164344ENST00000264690p.R113Lc.338G>TSubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.R113Lc.338G>TSubstitution - Missense
ELL2ENSG00000118985ENST00000237853p.A172Ac.516T>GSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.T5333Tc.15999A>CSubstitution - coding silent
TSPAN6ENSG00000000003ENST00000373020p.S135Sc.405T>CSubstitution - coding silent
TEX33ENSG00000185264ENST00000402860p.P103Pc.309T>ASubstitution - coding silent
KCTD17ENSG00000100379ENST00000403888p.P274Sc.820C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.D724Dc.2172C>TSubstitution - coding silent
DSTENSG00000151914ENST00000244364p.M1805Ic.5415G>CSubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.F168Fc.504C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.H1014Yc.3040C>TSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.A157Tc.469G>ASubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.T21Ic.62C>TSubstitution - Missense
BAATENSG00000136881ENST00000259407p.Y132Nc.394T>ASubstitution - Missense
SMPDL3AENSG00000172594ENST00000368440p.G307fs*35c.918_919insAInsertion - Frameshift
CSMD1ENSG00000183117ENST00000539096p.?c.6242-5A>GUnknown
CALB1ENSG00000104327ENST00000265431p.N230Nc.690T>CSubstitution - coding silent
OSR2ENSG00000164920ENST00000297565p.A45Vc.134C>TSubstitution - Missense
CARD14ENSG00000141527ENST00000573882p.D442Nc.1324G>ASubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.L833Lc.2499A>TSubstitution - coding silent
CELF4ENSG00000101489ENST00000361795p.?c.802-10T>CUnknown
ZNF823ENSG00000197933ENST00000341191p.V95Lc.283G>TSubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.V95Lc.283G>TSubstitution - Missense
STK11ENSG00000118046ENST00000326873p.R310Pc.929G>CSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.I771Mc.2313A>GSubstitution - Missense
TFF2ENSG00000160181ENST00000291526p.A102Ac.306C>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.A871Ac.2613T>CSubstitution - coding silent
C3orf38ENSG00000179021ENST00000318887p.R63Hc.188G>ASubstitution - Missense
USO1ENSG00000138768ENST00000538159p.I847Lc.2539A>CSubstitution - Missense
USO1ENSG00000138768ENST00000264904p.I766Lc.2296A>CSubstitution - Missense
FTOENSG00000140718ENST00000471389p.R84Gc.250A>GSubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.T1403Ac.4207A>GSubstitution - Missense
BHLHE40ENSG00000134107ENST00000256495p.T302Sc.905C>GSubstitution - Missense
BSNENSG00000164061ENST00000296452p.T1248Mc.3743C>TSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.E193Kc.577G>ASubstitution - Missense
HIST1H2ABENSG00000137259ENST00000259791p.I80Ic.240C>TSubstitution - coding silent
TRIM24ENSG00000122779ENST00000343526p.S589Sc.1767C>TSubstitution - coding silent
DGKIENSG00000157680ENST00000424189p.?c.2210+3G>AUnknown
ZC3HAV1ENSG00000105939ENST00000242351p.?c.1994-3A>GUnknown
TRIM24ENSG00000122779ENST00000415680p.S555Sc.1665C>TSubstitution - coding silent
DGKBENSG00000136267ENST00000403951p.V747Vc.2241C>ASubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.G621Dc.1862G>ASubstitution - Missense
SNX16ENSG00000104497ENST00000396330p.E289Kc.865G>ASubstitution - Missense
SKA1ENSG00000154839ENST00000285116p.T202Tc.606G>ASubstitution - coding silent
POLIENSG00000101751ENST00000579534p.R462Hc.1385G>ASubstitution - Missense
PFASENSG00000178921ENST00000314666p.R406Cc.1216C>TSubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.W150Cc.450G>TSubstitution - Missense
ACSS1ENSG00000154930ENST00000323482p.G527Vc.1580G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y32102Cc.96305A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.Y25797Cc.77390A>GSubstitution - Missense
NM_003319p.Y25605Cc.76814A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A18893Ac.56679C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A12521Ac.37563C>ASubstitution - coding silent
NM_003319p.A12396Ac.37188C>ASubstitution - coding silent
ENST00000356127p.G13478Ec.40433G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G7173Ec.21518G>ASubstitution - Missense
NM_003319p.G6981Ec.20942G>ASubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.?c.5911-2A>TUnknown
ENST00000388944p.?c.2041-2A>TUnknown
LILRA5ENSG00000187116ENST00000301219p.I267Ic.801C>TSubstitution - coding silent
PTK6ENSG00000101213ENST00000217185p.R91Lc.272G>TSubstitution - Missense
CADENSG00000084774ENST00000264705p.?c.2288-4C>TUnknown
LTBP1ENSG00000049323ENST00000407925p.Q229Hc.687G>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.H4215Hc.12645C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1838Ac.5512A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D1837Hc.5509G>CSubstitution - Missense
ENST00000405167p.D1837Hc.5509G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1988Tc.5964C>GSubstitution - coding silent
ENST00000405167p.L2278Fc.6832C>TSubstitution - Missense
ENST00000405167p.L1201Lc.3603T>GSubstitution - coding silent
NEK10ENSG00000163491ENST00000341435p.A196fs*19c.586delGDeletion - Frameshift
NEK10ENSG00000163491ENST00000429845p.A196fs*19c.586delGDeletion - Frameshift
ARHGEF38ENSG00000236699ENST00000420470p.E73Vc.218A>TSubstitution - Missense
TET2ENSG00000168769ENST00000305737p.A575Ac.1725G>ASubstitution - coding silent
TET2ENSG00000168769ENST00000380013p.A575Ac.1725G>ASubstitution - coding silent
HNRNPDENSG00000138668ENST00000313899p.T229Ac.685A>GSubstitution - Missense
LETM2ENSG00000165046ENST00000379957p.R177Cc.529C>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.D698Yc.2092G>TSubstitution - Missense
RGNENSG00000130988ENST00000397180p.I4Vc.10A>GSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.H816Hc.2448C>TSubstitution - coding silent
USP28ENSG00000048028ENST00000003302p.?c.1284-6G>AUnknown
MMP27ENSG00000137675ENST00000260229p.L20Ic.58T>ASubstitution - Missense
MMP20ENSG00000137674ENST00000260228p.Y351Yc.1053C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.V803Lc.2407G>TSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.D954Ec.2862T>ASubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.G206Gc.618G>TSubstitution - coding silent
QSER1ENSG00000060749ENST00000399302p.K795Tc.2384A>CSubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.G56Dc.167G>ASubstitution - Missense
TTLL10ENSG00000162571ENST00000379290p.V249fs*57c.745_746insGInsertion - Frameshift
TTLL10ENSG00000162571ENST00000379288p.V176fs*57c.526_527insGInsertion - Frameshift
UBR4ENSG00000127481ENST00000375254p.L1518Lc.4554G>CSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.P5183Tc.15547C>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.P5171Ac.15511C>GSubstitution - Missense
ALDH4A1ENSG00000159423ENST00000375341p.?c.297+7G>AUnknown
MAPK8ENSG00000107643ENST00000374176p.N385Sc.1154A>GSubstitution - Missense
STOX1ENSG00000165730ENST00000399169p.G823Vc.2468G>TSubstitution - Missense
DNAJB12ENSG00000148719ENST00000338820p.?c.935+9A>GUnknown
ATG2AENSG00000110046ENST00000377264p.R1621Rc.4863C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.A743Ac.2229A>GSubstitution - coding silent
SRRM4ENSG00000139767ENST00000267260p.Y587Yc.1761C>TSubstitution - coding silent
ECM1ENSG00000143369ENST00000369047p.G23Vc.68G>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.G135Gc.405G>TSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.F575Fc.1725T>CSubstitution - coding silent
FGD4ENSG00000139132ENST00000427716p.V683Ic.2047G>ASubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.L149Vc.445C>GSubstitution - Missense
TSPAN11ENSG00000110900ENST00000261177p.C236*c.708C>ASubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.H1145Lc.3434A>TSubstitution - Missense
BTG2ENSG00000159388ENST00000475157p.T136Tc.408C>TSubstitution - coding silent
TMOD3ENSG00000138594ENST00000308580p.L138Fc.412C>TSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.G253Gc.759G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.L746Mc.2236C>ASubstitution - Missense
C11orf54ENSG00000182919ENST00000331239p.H195fs*7c.584delADeletion - Frameshift
KIAA1731ENSG00000166004ENST00000325212p.H681Nc.2041C>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.H681Nc.2041C>ASubstitution - Missense
WASF2ENSG00000158195ENST00000430629p.R140Rc.420G>ASubstitution - coding silent
KANK4ENSG00000132854ENST00000371153p.I560Tc.1679T>CSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.A969Vc.2906C>TSubstitution - Missense
PSMA3ENSG00000100567ENST00000216455p.A165Vc.494C>TSubstitution - Missense
PPIBENSG00000166794ENST00000300026p.K209Rc.626A>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.K677Rc.2030A>GSubstitution - Missense
C6ENSG00000039537ENST00000263413p.N590Sc.1769A>GSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.T65Tc.195G>CSubstitution - coding silent
SNF8ENSG00000159210ENST00000502492p.L202Lc.606T>CSubstitution - coding silent
FASTKD2ENSG00000118246ENST00000236980p.H468Nc.1402C>ASubstitution - Missense
RPEENSG00000197713ENST00000359429p.L27Lc.81A>GSubstitution - coding silent
EFCAB1ENSG00000034239ENST00000262103p.N131Kc.393C>ASubstitution - Missense
ALG13ENSG00000101901ENST00000394780p.S216fs*5c.640_641insAGAAInsertion - Frameshift
ENST00000429478p.G1110Ac.3329G>CSubstitution - Missense
CAPSENSG00000105519ENST00000222125p.M90Tc.269T>CSubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.?c.6227-9C>TUnknown
PTCH1ENSG00000185920ENST00000375274p.?c.2558-1G>AUnknown
KCNE1LENSG00000176076ENST00000372101p.Y60Cc.179A>GSubstitution - Missense
EFNB3ENSG00000108947ENST00000226091p.Y311Cc.932A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.Y220Dc.658T>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.Y220Dc.658T>GSubstitution - Missense
ENST00000545858p.Y127Dc.379T>GSubstitution - Missense
ENST00000414315p.?c.252+10T>GUnknown
ANKRD27ENSG00000105186ENST00000306065p.A203Tc.607G>ASubstitution - Missense
CBFA2T2ENSG00000078699ENST00000342704p.?c.179-2A>TUnknown
PPP4R1LENSG00000124224ENST00000334187p.D128Nc.382G>ASubstitution - Missense
NM_019888.2p.N105Kc.315C>ASubstitution - Missense
SPAM1ENSG00000106304ENST00000439500p.?c.1044+6T>GUnknown
ENST00000332558_v68p.T132Kc.395C>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.265-1G>TUnknown
PTCH1ENSG00000185920ENST00000331920p.?c.2561-1G>AUnknown
CCDC101ENSG00000176476ENST00000317058p.E225Kc.673G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2272Pc.6814T>CSubstitution - Missense
ENST00000537504p.E151Dc.453G>TSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.R1492*c.4474C>TSubstitution - Nonsense
CDH10ENSG00000040731ENST00000264463p.G663*c.1987G>TSubstitution - Nonsense
KLHL42ENSG00000087448ENST00000381271p.A335Tc.1003G>ASubstitution - Missense
LRP10ENSG00000197324ENST00000359591p.R554*c.1660C>TSubstitution - Nonsense
OSGEPL1ENSG00000128694ENST00000264151p.R303Wc.907C>TSubstitution - Missense
AHRENSG00000106546ENST00000242057p.T92Nc.275C>ASubstitution - Missense
KRT40ENSG00000204889ENST00000398486p.R241Cc.721C>TSubstitution - Missense
RPS6KC1ENSG00000136643ENST00000366960p.T169Pc.505A>CSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.N369Sc.1106A>GSubstitution - Missense
KLRC2ENSG00000205809ENST00000381902p.?c.484-3T>CUnknown
SELPLGENSG00000110876ENST00000550948p.G382Vc.1145G>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.V155Vc.465G>CSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.V207Vc.621G>CSubstitution - coding silent
SPATA17ENSG00000162814ENST00000366933p.A219Sc.655G>TSubstitution - Missense
RRP15ENSG00000067533ENST00000366932p.?c.139+6G>TUnknown
PSEN2ENSG00000143801ENST00000366783p.D55Dc.165C>TSubstitution - coding silent
KAT6BENSG00000156650ENST00000287239p.V1652Vc.4956C>TSubstitution - coding silent
OR8A1ENSG00000196119ENST00000284287p.R139Cc.415C>TSubstitution - Missense
OR10G7ENSG00000182634ENST00000330487p.C188Cc.564T>CSubstitution - coding silent
SLC35C1ENSG00000181830ENST00000314134p.L160Lc.480G>TSubstitution - coding silent
SLC26A10ENSG00000135502ENST00000320442p.C561Cc.1683C>TSubstitution - coding silent
PPP1R12AENSG00000058272ENST00000261207p.S50Sc.150C>TSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.E871Dc.2613G>TSubstitution - Missense
ZNF705AENSG00000196946ENST00000359286p.H162Lc.485A>TSubstitution - Missense
ATF7IPENSG00000171681ENST00000261168p.?c.2158+5C>TUnknown
CACNA1CENSG00000151067ENST00000347598p.P100Qc.299C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.P100Qc.299C>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.G1758fs*28c.5267_5268insGCInsertion - Frameshift
KRT81ENSG00000205426ENST00000327741p.V259Mc.775G>ASubstitution - Missense
CHRDL2ENSG00000054938ENST00000263671p.I366Mc.1098C>GSubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.C327Gc.979T>GSubstitution - Missense
C14orf2ENSG00000156411ENST00000414262p.Q20Pc.59A>CSubstitution - Missense
OR4K2ENSG00000165762ENST00000298642p.C254Rc.760T>CSubstitution - Missense
POTEGENSG00000222036ENST00000409832p.A127Gc.380C>GSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.G2253Vc.6758G>TSubstitution - Missense
MS4A12ENSG00000071203ENST00000016913p.N260Ic.779A>TSubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.Q209Rc.626A>GSubstitution - Missense
PPP1CAENSG00000172531ENST00000376745p.Q198Rc.593A>GSubstitution - Missense
HNRNPUL2ENSG00000214753ENST00000301785p.A123Ac.369C>TSubstitution - coding silent
C12orf55ENSG00000188596ENST00000298953p.K563*c.1687A>TSubstitution - Nonsense
FGD6ENSG00000180263ENST00000343958p.L1362Pc.4085T>CSubstitution - Missense
ENST00000251757p.R211Wc.631A>TSubstitution - Missense
BIVMENSG00000134897ENST00000257336p.Q273Kc.817C>ASubstitution - Missense
ZNF670ENSG00000135747ENST00000366503p.N58Dc.172A>GSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.I218Vc.652A>GSubstitution - Missense
CCDC172ENSG00000182645ENST00000333254p.S2Sc.6C>TSubstitution - coding silent
SORCS1ENSG00000108018ENST00000263054p.?c.2189+9G>TUnknown
LRRK2ENSG00000188906ENST00000298910p.I148Ic.444C>ASubstitution - coding silent
SU_LRRK2p.I148Ic.444C>ASubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.T149Sc.445A>TSubstitution - Missense
SU_LRRK2p.T149Sc.445A>TSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.N481Kc.1443C>GSubstitution - Missense
MFAP2ENSG00000117122ENST00000375535p.G93Ec.278G>ASubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.L234Hc.701T>ASubstitution - Missense
DCAF8ENSG00000132716ENST00000326837p.P486Pc.1458C>TSubstitution - coding silent
ENSG00000258465ENST00000556710p.P640Pc.1920C>TSubstitution - coding silent
ATP1A2ENSG00000018625ENST00000361216p.G758Ac.2273G>CSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
ZW10ENSG00000086827ENST00000200135p.I168Mc.504A>GSubstitution - Missense


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID