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C32 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

698 mutations reported
260 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
ARHGAP30ENSG00000186517ENST00000368016p.E564*c.1690G>TSubstitution - Nonsense
ARHGAP30ENSG00000186517ENST00000368016p.G469Gc.1407C>ASubstitution - coding silent
USP21ENSG00000143258ENST00000368002p.P91Ac.271C>GSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.G3380Gc.10140C>TSubstitution - coding silent
ACTRT2ENSG00000169717ENST00000378404p.F204Sc.611T>CSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.S1517Lc.4550C>TSubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.E556Kc.1666G>ASubstitution - Missense
NRAPENSG00000197893ENST00000359988p.K618Kc.1854G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000294018p.S749Sc.2247G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000338508p.S1345Sc.4035G>ASubstitution - coding silent
SPTBN2ENSG00000173898ENST00000309996p.P2189Pc.6567G>ASubstitution - coding silent
MRPL52ENSG00000172590ENST00000397496p.R75Qc.224G>ASubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.F191Fc.573C>TSubstitution - coding silent
EBF3ENSG00000108001ENST00000355311p.F191Fc.573C>TSubstitution - coding silent
NUMA1ENSG00000137497ENST00000393695p.N265Kc.795T>ASubstitution - Missense
RECQLENSG00000004700ENST00000444129p.C414Yc.1241G>ASubstitution - Missense
C12orf36ENSG00000180861ENST00000318426p.K118Kc.354G>ASubstitution - coding silent
GUCY2CENSG00000070019ENST00000261170p.E758Ec.2274A>GSubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.?c.431-7C>TUnknown
DGKZENSG00000149091ENST00000454345p.Q413Rc.1238A>GSubstitution - Missense
DGKZENSG00000149091ENST00000395574p.Q191Rc.572A>GSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.G854Rc.2560G>ASubstitution - Missense
KIRREL3ENSG00000149571ENST00000525144p.P311Pc.933C>TSubstitution - coding silent
KIRREL3ENSG00000149571ENST00000525704p.P311Pc.933C>TSubstitution - coding silent
ENST00000278934p.P270Pc.810C>TSubstitution - coding silent
OR4D5ENSG00000171014ENST00000307033p.G216Ec.647G>ASubstitution - Missense
OR10G6ENSG00000198674ENST00000307002p.L14fs*97c.41_42insTInsertion - Frameshift
PLCE1ENSG00000138193ENST00000260766p.?c.1492+7C>AUnknown
CYP2C19ENSG00000165841ENST00000371321p.N398Sc.1193A>GSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.V1563Vc.4689C>TSubstitution - coding silent
ENST00000412131p.S1156Sc.3468C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.S541Sc.1623C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.P1162Sc.3484C>TSubstitution - Missense
ENST00000412131p.P1157Sc.3469C>TSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.P542Sc.1624C>TSubstitution - Missense
DCTENSG00000080166ENST00000446125p.F469Fc.1407C>TSubstitution - coding silent
LMO7ENSG00000136153ENST00000357063p.R404Cc.1210C>TSubstitution - Missense
TMEM119ENSG00000183160ENST00000392806p.E233Kc.697G>ASubstitution - Missense
KPNA3ENSG00000102753ENST00000261667p.V430Mc.1288G>ASubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.R307Hc.920G>ASubstitution - Missense
SYT14ENSG00000143469ENST00000534859p.H454Yc.1360C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E8324Kc.24970G>ASubstitution - Missense
ENST00000356127p.E14696Kc.44086G>ASubstitution - Missense
ZNF551ENSG00000204519ENST00000282296p.R644*c.1930C>TSubstitution - Nonsense
SCAPENSG00000114650ENST00000265565p.T707Tc.2121G>ASubstitution - coding silent
ENST00000331986p.E7019Dc.21057A>CSubstitution - Missense
ENST00000265403_v61p.L62Ic.184C>ASubstitution - Missense
MRPL18ENSG00000112110ENST00000367034p.R130*c.388C>TSubstitution - Nonsense
ADCY1ENSG00000164742ENST00000297323p.V275Ic.823G>ASubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.G426Vc.1277G>TSubstitution - Missense
CD22ENSG00000012124ENST00000085219p.D619Nc.1855G>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000396576p.R423Cc.1267C>TSubstitution - Missense
PCDHB14ENSG00000120327ENST00000239449p.S350Lc.1049C>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.P1557Lc.4670C>TSubstitution - Missense
UGT2B10ENSG00000109181ENST00000265403p.L62Ic.184C>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1064Pc.3192T>CSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
ENST00000305812p.I254Ic.762C>TSubstitution - coding silent
RHPN2ENSG00000131941ENST00000254260p.K316Kc.948G>ASubstitution - coding silent
CANT1ENSG00000171302ENST00000392446p.P386Lc.1157C>TSubstitution - Missense
PGS1ENSG00000087157ENST00000262764p.I504Ic.1512C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.D645Nc.1933G>ASubstitution - Missense
MGAT5BENSG00000167889ENST00000428789p.A703Ac.2109C>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.P2927Pc.8781C>TSubstitution - coding silent
CDRT1ENSG00000241322ENST00000395906p.Y13fs*22c.36delCDeletion - Frameshift
CDRT1ENSG00000241322ENST00000395906p.Y13fs*22c.36delCDeletion - Frameshift
NUP62CLENSG00000198088ENST00000372466p.Q2Qc.6G>ASubstitution - coding silent
ZNF510ENSG00000081386ENST00000375231p.A21Tc.61G>ASubstitution - Missense
CHMP2AENSG00000130724ENST00000312547p.L168Lc.504G>CSubstitution - coding silent
OCRLENSG00000122126ENST00000371113p.R616Rc.1848G>ASubstitution - coding silent
RBMXL3ENSG00000175718ENST00000424776p.R43Qc.128G>ASubstitution - Missense
RBMXL3ENSG00000175718ENST00000424776p.E631Qc.1891G>CSubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.G18Gc.54A>TSubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.S754Fc.2261C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.P803Sc.2407C>TSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.K2918Kc.8754G>ASubstitution - coding silent
BFSP1ENSG00000125864ENST00000377873p.V297Vc.891C>TSubstitution - coding silent
RIN2ENSG00000132669ENST00000255006p.F416Lc.1246T>CSubstitution - Missense
ENST00000331986p.M3147Lc.9439A>TSubstitution - Missense
KAT7ENSG00000136504ENST00000259021p.L434Fc.1302A>TSubstitution - Missense
LRRC46ENSG00000141294ENST00000269025p.Q147Qc.441G>ASubstitution - coding silent
ENST00000248272p.T408Tc.1224C>TSubstitution - coding silent
FYBENSG00000082074ENST00000505428p.T564Kc.1691C>ASubstitution - Missense
FYBENSG00000082074ENST00000351578p.T564Kc.1691C>ASubstitution - Missense
FYBENSG00000082074ENST00000512982p.T564Kc.1691C>ASubstitution - Missense
ACTC1ENSG00000159251ENST00000290378p.K115Kc.345G>ASubstitution - coding silent
MEGF11ENSG00000157890ENST00000409699p.S309Sc.927C>TSubstitution - coding silent
CEP128ENSG00000100629ENST00000281129p.R502Qc.1505G>ASubstitution - Missense
PER3ENSG00000049246ENST00000361923p.P249Sc.745C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.D1166Nc.3496G>ASubstitution - Missense
CNKSR1ENSG00000142675ENST00000361530p.S621Rc.1861A>CSubstitution - Missense
AIM1LENSG00000176092ENST00000475866p.P146Pc.438C>TSubstitution - coding silent
AIM1LENSG00000176092ENST00000475866p.P146Lc.437C>TSubstitution - Missense
GLDNENSG00000186417ENST00000335449p.R414Rc.1242A>CSubstitution - coding silent
SYT10ENSG00000110975ENST00000228567p.I367Ic.1101C>TSubstitution - coding silent
ENSG00000206044ENST00000382678p.R308delRc.922_924delAGADeletion - In frame
PRAMEF12ENSG00000116726ENST00000357726p.S366Sc.1098C>TSubstitution - coding silent
SV2AENSG00000159164ENST00000369146p.P343Sc.1027C>TSubstitution - Missense
PTCH2ENSG00000117425ENST00000372192p.H622Nc.1864C>ASubstitution - Missense
DMAP1ENSG00000178028ENST00000361745p.R257Pc.770G>CSubstitution - Missense
C1orf228ENSG00000198520ENST00000458657p.I386Tc.1157T>CSubstitution - Missense
FOXO6ENSG00000204060ENST00000372591p.W137*c.411G>ASubstitution - Nonsense
DNHD1ENSG00000179532ENST00000254579p.G4497Sc.13489G>ASubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.R366Qc.1097G>ASubstitution - Missense
PPP2R5BENSG00000068971ENST00000164133p.?c.783-6C>TUnknown
PLA2G16ENSG00000176485ENST00000323646p.R18Hc.53G>ASubstitution - Missense
ARID5BENSG00000150347ENST00000279873p.N770Dc.2308A>GSubstitution - Missense
SLC16A9ENSG00000165449ENST00000395347p.L142Lc.426G>ASubstitution - coding silent
ARMC4ENSG00000169126ENST00000305242p.?c.937-7A>GUnknown
EXD2ENSG00000081177ENST00000409014p.R367Hc.1100G>ASubstitution - Missense
C10orf111ENSG00000176236ENST00000378207p.L142Rc.425T>GSubstitution - Missense
KNOP1ENSG00000103550ENST00000219837p.A54Ac.162C>TSubstitution - coding silent
TAS1R2ENSG00000179002ENST00000375371p.A296Vc.887C>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.P634Sc.1900C>TSubstitution - Missense
NM_005933.1p.E3872Kc.11614G>ASubstitution - Missense
ENST00000316851_v65p.A577Vc.1730C>TSubstitution - Missense
ENST00000433634p.A21Vc.62C>TSubstitution - Missense
LPCAT3ENSG00000111684ENST00000261407p.L169Lc.505T>CSubstitution - coding silent
NOP2ENSG00000111641ENST00000399466p.D126Dc.378C>TSubstitution - coding silent
XPR1ENSG00000143324ENST00000367590p.S74Lc.221C>TSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.E564*c.1690G>TSubstitution - Nonsense
ENST00000405167p.S2375Sc.7125C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1550Nc.4649C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2375Sc.7125C>TSubstitution - coding silent
NLRC4ENSG00000091106ENST00000404025p.L108Fc.324G>CSubstitution - Missense
GPN1ENSG00000198522ENST00000264718p.S4Fc.11C>TSubstitution - Missense
NM_007266.1p.S4Fc.11C>TSubstitution - Missense
GPN1ENSG00000198522ENST00000264718p.S4Sc.12C>TSubstitution - coding silent
NM_007266.1p.S4Sc.12C>TSubstitution - coding silent
SAMSN1ENSG00000155307ENST00000285670p.G200Rc.598G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.L1626Lc.4878C>TSubstitution - coding silent
PLCB1ENSG00000182621ENST00000338037p.M102Ic.306G>ASubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.F197Fc.591C>TSubstitution - coding silent
FANCAENSG00000187741ENST00000389301p.L784Lc.2350T>CSubstitution - coding silent
ACSF3ENSG00000176715ENST00000317447p.K195Rc.584A>GSubstitution - Missense
ZNF778ENSG00000170100ENST00000306502p.I566Rc.1697T>GSubstitution - Missense
AXIN1ENSG00000103126ENST00000262320p.R349Hc.1046G>ASubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.P1619Lc.4856C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.H1074Hc.3222C>TSubstitution - coding silent
PRSS53ENSG00000151006ENST00000280606p.R184Hc.551G>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.S1874Rc.5622C>ASubstitution - Missense
ENST00000544929p.A249Tc.745G>ASubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.R1291*c.3871C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.E6347Kc.19039G>ASubstitution - Missense
ENST00000356127p.E12719Kc.38155G>ASubstitution - Missense
NM_003319p.E6222Kc.18664G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.W12243*c.36729G>ASubstitution - Nonsense
NM_003319p.W12051*c.36153G>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.E28093Kc.84277G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E21721Kc.65161G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E21788Kc.65362G>ASubstitution - Missense
NM_003319p.E21596Kc.64786G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.I20190Ic.60570T>ASubstitution - coding silent
DGCR2ENSG00000070413ENST00000263196p.L152Lc.456C>GSubstitution - coding silent
ARVCFENSG00000099889ENST00000263207p.?c.2551-1G>AUnknown
ENST00000201961_v71p.G98Sc.292G>ASubstitution - Missense
C20orf112ENSG00000197183ENST00000375678p.G57Sc.169G>ASubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.?c.909-2A>GUnknown
MAPK4ENSG00000141639ENST00000400384p.V270Vc.810G>ASubstitution - coding silent
NM_007332.1p.K1092Kc.3276G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.?c.2590+5G>AUnknown
LYNX1ENSG00000180155ENST00000335822p.I8Ic.24C>TSubstitution - coding silent
OR9A4ENSG00000258083ENST00000548136p.I76Fc.226A>TSubstitution - Missense
KLRG2ENSG00000188883ENST00000340940p.L271Lc.813C>TSubstitution - coding silent
TBPENSG00000112592ENST00000230354p.P119Lc.356C>TSubstitution - Missense
IFRD2ENSG00000214706ENST00000336089p.?c.1522-7C>TUnknown
NM_032457.1p.P1174Sc.3520C>TSubstitution - Missense
KCNE2ENSG00000159197ENST00000290310p.W26*c.78G>ASubstitution - Nonsense
CHODLENSG00000154645ENST00000338326p.G99Ec.296G>ASubstitution - Missense
STAC2ENSG00000141750ENST00000333461p.S92Sc.276C>TSubstitution - coding silent
ARID5AENSG00000196843ENST00000357485p.C474Cc.1422T>CSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.?c.1633+3A>TUnknown
POFUT2ENSG00000186866ENST00000349485p.H323Hc.969C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000440014p.S749Sc.2247C>TSubstitution - coding silent
SBNO2ENSG00000064932ENST00000361757p.S177Cc.529A>TSubstitution - Missense
MYL12AENSG00000101608ENST00000579226p.G90Cc.268G>TSubstitution - Missense
C18orf21ENSG00000141428ENST00000333234p.L25Lc.75C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000293683p.S784Sc.2352C>TSubstitution - coding silent
CCDC178ENSG00000166960ENST00000383096p.?c.1023-5C>TUnknown
NOL4ENSG00000101746ENST00000261592p.S59Sc.177G>ASubstitution - coding silent
DTNAENSG00000134769ENST00000269190p.K176Rc.527A>GSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.L467Fc.1399C>TSubstitution - Missense
CPNE3ENSG00000085719ENST00000198765p.N84Nc.252C>TSubstitution - coding silent
FAM208AENSG00000163946ENST00000431842p.V871Ic.2611G>ASubstitution - Missense
CSTF1ENSG00000101138ENST00000217109p.V104Vc.312C>TSubstitution - coding silent
NM_001198.2p.V668Ac.2003T>CSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.T1436delTc.4302_4304delAACDeletion - In frame
ENST00000341338_v68p.P322Lc.965C>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.I988Ic.2964C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000418609p.I892Ic.2676C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000393528p.I554Ic.1662C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000448662p.I549Ic.1647C>TSubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.F86Lc.258T>GSubstitution - Missense
GUCY1B3ENSG00000061918ENST00000264424p.?c.179-6A>GUnknown
POU4F2ENSG00000151615ENST00000281321p.?c.288+9T>CUnknown
TTC29ENSG00000137473ENST00000325106p.E193Kc.577G>ASubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.G974Rc.2920G>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.V1240Lc.3718G>CSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.G450Ec.1349G>ASubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.R524Rc.1572G>ASubstitution - coding silent
IL27ENSG00000197272ENST00000356897p.R98Cc.292C>TSubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.L301Lc.903G>TSubstitution - coding silent
PGAM4ENSG00000226784ENST00000458128p.D158Yc.472G>TSubstitution - Missense
DGAT2L6ENSG00000184210ENST00000333026p.P294Sc.880C>TSubstitution - Missense
CBWD1ENSG00000172785ENST00000356521p.L207Lc.621G>TSubstitution - coding silent
CBWD1ENSG00000172785ENST00000377447p.L207Lc.621G>TSubstitution - coding silent
PSIP1ENSG00000164985ENST00000380716p.?c.149+5G>CUnknown
PSIP1ENSG00000164985ENST00000380715p.?c.149+5G>CUnknown
TPRNENSG00000176058ENST00000409012p.R636Wc.1906C>TSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.D840Dc.2520T>CSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T57Kc.170C>ASubstitution - Missense
MTRRENSG00000124275ENST00000264668p.?c.1228-6T>CUnknown
FBXW12ENSG00000164049ENST00000296438p.D431Nc.1291G>ASubstitution - Missense
PRSS45ENSG00000188086ENST00000442359p.F217Lc.651C>GSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.A626Ac.1878G>ASubstitution - coding silent
ENST00000344062p.K252Rc.755A>GSubstitution - Missense
GP9ENSG00000169704ENST00000307395p.F8Fc.24C>TSubstitution - coding silent
ADCY5ENSG00000173175ENST00000462833p.?c.1948-9G>AUnknown
RQCD1ENSG00000144580ENST00000273064p.E33Dc.99G>CSubstitution - Missense
RQCD1ENSG00000144580ENST00000273064p.?c.431-5T>GUnknown
POLR1BENSG00000125630ENST00000263331p.S220Fc.659C>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.I245Ic.735T>ASubstitution - coding silent
ADAM22ENSG00000008277ENST00000398209p.I245Ic.735T>ASubstitution - coding silent
ADAM22ENSG00000008277ENST00000265727p.A432Ac.1296C>TSubstitution - coding silent
ADAM22ENSG00000008277ENST00000265727p.A432Ac.1296C>TSubstitution - coding silent
SRIENSG00000075142ENST00000394641p.M1Tc.2T>CSubstitution - Missense
STK31ENSG00000196335ENST00000355870p.P708Lc.2123C>TSubstitution - Missense
GMPRENSG00000137198ENST00000259727p.?c.655-8C>TUnknown
ARID1BENSG00000049618ENST00000346085p.S1642Fc.4925C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.Q4056*c.12166C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.Q4056*c.12166C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000423061p.Q3985*c.11953C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.R3492Cc.10474C>TSubstitution - Missense
MTMR12ENSG00000150712ENST00000382142p.Q50Lc.149A>TSubstitution - Missense
TRIM41ENSG00000146063ENST00000351937p.R423Qc.1268G>ASubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.T519Tc.1557C>TSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000264501p.T1709Kc.5126C>ASubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.N607Sc.1820A>GSubstitution - Missense
TM4SF1ENSG00000169908ENST00000305366p.E34Kc.100G>ASubstitution - Missense
PDP2ENSG00000172840ENST00000311765p.A161Tc.481G>ASubstitution - Missense
FAM173BENSG00000150756ENST00000511437p.T213Ic.638C>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000321521p.R1083Cc.3247C>TSubstitution - Missense
WIPI1ENSG00000070540ENST00000262139p.?c.692+8T>AUnknown
ZNF460ENSG00000197714ENST00000360338p.R496Rc.1488G>TSubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.Q305Rc.914A>GSubstitution - Missense
ZNF419ENSG00000105136ENST00000347466p.Q272Rc.815A>GSubstitution - Missense
ENST00000284020p.Q279Rc.836A>GSubstitution - Missense
SBK2ENSG00000187550ENST00000344158p.R314Rc.942G>ASubstitution - coding silent
SBK2ENSG00000187550ENST00000413299p.R314Rc.942G>ASubstitution - coding silent
NEIL3ENSG00000109674ENST00000264596p.S312Fc.935C>TSubstitution - Missense
NM_018248.1p.S312Fc.935C>TSubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.G426Rc.1276G>CSubstitution - Missense
ENST00000318560_v70p.A1026Tc.3076G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.R1844Wc.5530C>TSubstitution - Missense
GAPVD1ENSG00000165219ENST00000394105p.?c.1603-5T>CUnknown
SCN3AENSG00000153253ENST00000283254p.R1897Cc.5689C>TSubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.R1848Cc.5542C>TSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.K76Kc.228G>ASubstitution - coding silent
SGSM1ENSG00000167037ENST00000400358p.S652Fc.1955C>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.G1060Cc.3178G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.G1060Cc.3178G>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.S1262Fc.3785C>TSubstitution - Missense
ABHD8ENSG00000127220ENST00000247706p.E419Kc.1255G>ASubstitution - Missense
OR1I1ENSG00000094661ENST00000209540p.I214Ic.642C>TSubstitution - coding silent
PRKCBENSG00000166501ENST00000303531p.?c.822-7C>TUnknown
PRKCBENSG00000166501ENST00000303531p.?c.822-7C>TUnknown
PRKCBENSG00000166501ENST00000321728p.?c.822-7C>TUnknown
GGA2ENSG00000103365ENST00000309859p.A294Tc.880G>ASubstitution - Missense
VWA3AENSG00000175267ENST00000389397p.W33*c.99G>ASubstitution - Nonsense
PKHD1L1ENSG00000205038ENST00000378402p.?c.1380-4C>TUnknown
TANGO6ENSG00000103047ENST00000261778p.N609fs*5c.1823delADeletion - Frameshift
ENST00000402998p.R418Rc.1254G>ASubstitution - coding silent
PDGFAENSG00000197461ENST00000354513p.E104Ec.312G>ASubstitution - coding silent
PDGFAENSG00000197461ENST00000402802p.E104Ec.312G>ASubstitution - coding silent
WIPI2ENSG00000157954ENST00000288828p.P284Pc.852C>TSubstitution - coding silent
WIPI2ENSG00000157954ENST00000288828p.P285Sc.853C>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.M254Vc.760A>GSubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.R356*c.1066C>TSubstitution - Nonsense
DPCR1ENSG00000168631ENST00000462446p.P506Qc.1517C>ASubstitution - Missense
FAM71BENSG00000170613ENST00000302938p.I80Ic.240C>TSubstitution - coding silent
PCDHB14ENSG00000120327ENST00000239449p.E310Kc.928G>ASubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.P626Pc.1878C>ASubstitution - coding silent
EGR1ENSG00000120738ENST00000239938p.G276Gc.828C>TSubstitution - coding silent
NM_021990p.S104Fc.311C>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.T924Tc.2772C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000263519p.T924Tc.2772C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000370186p.T910Tc.2730C>TSubstitution - coding silent
MAGEC2ENSG00000046774ENST00000247452p.G268Rc.802G>ASubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.V201Ic.601G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.H461Yc.1381C>TSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.H820Yc.2458C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.D244Nc.730G>ASubstitution - Missense
PDE1CENSG00000154678ENST00000396193p.I83Ic.249C>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.H295Yc.883C>TSubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.V331Lc.991G>TSubstitution - Missense
TBL1XR1ENSG00000177565ENST00000430069p.A115Tc.343G>ASubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.P324Sc.970C>TSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.P563Lc.1688C>TSubstitution - Missense
LRFN3ENSG00000126243ENST00000246529p.P405Sc.1213C>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.E724Kc.2170G>ASubstitution - Missense
EFTUD2ENSG00000108883ENST00000426333p.A246fs*19c.736_737insTGInsertion - Frameshift
KAT2AENSG00000108773ENST00000225916p.D731Nc.2191G>ASubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.N409Dc.1225A>GSubstitution - Missense
SLC2A12ENSG00000146411ENST00000275230p.S256Sc.768C>TSubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.R688Rc.2062C>ASubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.R1073Qc.3218G>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.R1067Qc.3200G>ASubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.?c.2405_2771-1022del6151Unknown
KCNQ5ENSG00000185760ENST00000370398p.T97Pc.289A>CSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.E125Kc.373G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.G631Rc.1891G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.G626Rc.1876G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.P4102Lc.12305C>TSubstitution - Missense
CARD10ENSG00000100065ENST00000403299p.R142Qc.425G>ASubstitution - Missense
STIM2ENSG00000109689ENST00000237364p.?c.1411-8G>AUnknown
IQGAP2ENSG00000145703ENST00000274364p.Q1226Qc.3678G>ASubstitution - coding silent
ADAM22ENSG00000008277ENST00000398209p.A432Ac.1296C>TSubstitution - coding silent
ENST00000334050p.?c.408-9C>TUnknown
TRIM41ENSG00000146063ENST00000315073p.R423Qc.1268G>ASubstitution - Missense
ENST00000405167p.T1550Nc.4649C>ASubstitution - Missense
ENST00000356127p.I26560Ic.79680T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.I20257Ic.60771T>ASubstitution - coding silent
TDRD15ENSG00000218819ENST00000405799p.V152Vc.456G>ASubstitution - coding silent
AKR1C3ENSG00000196139ENST00000380554p.R223Qc.668G>ASubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.N161Kc.483C>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.G3236Gc.9708C>TSubstitution - coding silent
RACGAP1ENSG00000161800ENST00000427314p.S420Gc.1258A>GSubstitution - Missense
CELA1ENSG00000139610ENST00000293636p.G151Dc.452G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.?c.1492+7C>AUnknown
TTNENSG00000155657ENST00000342992p.E14696Kc.44086G>ASubstitution - Missense
MCAMENSG00000076706ENST00000264036p.S198Lc.593C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000352115p.R454Cc.1360C>TSubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.L171Lc.513G>TSubstitution - coding silent
RAPGEF1ENSG00000107263ENST00000372195p.A650Vc.1949C>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.G18Gc.54A>TSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.K1092Kc.3276G>ASubstitution - coding silent
TPK1ENSG00000196511ENST00000549981p.I5Tc.14T>CSubstitution - Missense
KCNQ5ENSG00000185760ENST00000370392p.T97Pc.289A>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T200Kc.599C>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.P1002Sc.3004C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.Q3921*c.11761C>TSubstitution - Nonsense
PPIP5K2ENSG00000145725ENST00000358359p.R1083Cc.3247C>TSubstitution - Missense
AIM1ENSG00000112297ENST00000535438p.T255delTc.759_761delAACDeletion - In frame
ENST00000264718_v70p.S18Fc.53C>TSubstitution - Missense
ENST00000264718_v70p.S18Sc.54C>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000428368p.G986Rc.2956G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.L53Lc.157T>CSubstitution - coding silent
DGCR2ENSG00000070413ENST00000545799p.L149Lc.447C>GSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.K1217Ic.3650A>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.K1089Ic.3266A>TSubstitution - Missense
ENST00000428290_v65p.K1089Ic.3266A>TSubstitution - Missense
DTNAENSG00000134769ENST00000269191p.K176Rc.527A>GSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.H1074Hc.3222C>TSubstitution - coding silent
MEGF11ENSG00000157890ENST00000360698p.S309Sc.927C>TSubstitution - coding silent
SAMD15ENSG00000100583ENST00000216471p.A35Ac.105C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.D1147Nc.3439G>ASubstitution - Missense
DMAP1ENSG00000178028ENST00000437511p.R283Pc.848G>CSubstitution - Missense
FCRL5ENSG00000143297ENST00000361835p.P12Pc.36T>CSubstitution - coding silent
FCRL5ENSG00000143297ENST00000368189p.P12Pc.36T>CSubstitution - coding silent
FCRL5ENSG00000143297ENST00000368188p.P12Pc.36T>CSubstitution - coding silent
NBEAENSG00000172915ENST00000400445p.S1517Lc.4550C>TSubstitution - Missense
NOP2ENSG00000111641ENST00000322166p.L131Fc.391C>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.P2189Pc.6567G>ASubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.S965Sc.2895G>ASubstitution - coding silent
SERPING1ENSG00000149131ENST00000278407p.W299*c.896G>ASubstitution - Nonsense
OR4A16ENSG00000181961ENST00000314721p.I276Ic.828C>TSubstitution - coding silent
MCAMENSG00000076706ENST00000392814p.S147Lc.440C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377315p.R430Cc.1288C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.R385Cc.1153C>TSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.Q205Lc.614A>TSubstitution - Missense
ENST00000301659_v70p.G77Gc.231G>ASubstitution - coding silent
GCLCENSG00000001084ENST00000229416p.F174Fc.522C>TSubstitution - coding silent
DEFB113ENSG00000214642ENST00000398718p.P18Sc.52C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.?c.5752-5T>GUnknown
CYP21A2ENSG00000231852ENST00000418967p.N221Sc.662A>GSubstitution - Missense
NM_006622p.H64Hc.192C>TSubstitution - coding silent
KCNIP1ENSG00000182132ENST00000411494p.Y172Hc.514T>CSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.E412Kc.1234G>ASubstitution - Missense
OR5T2ENSG00000181718ENST00000313264p.G80Ec.239G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.?c.2590+5G>AUnknown
SDK1ENSG00000146555ENST00000404826p.L996Lc.2988G>ASubstitution - coding silent
C2orf70ENSG00000173557ENST00000329615p.?c.75-6C>TUnknown
MEGF8ENSG00000105429ENST00000251268p.S870Fc.2609C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.P1002Sc.3004C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R3492Cc.10474C>TSubstitution - Missense
STARD4ENSG00000164211ENST00000296632p.G57Sc.169G>ASubstitution - Missense
SLC4A7ENSG00000033867ENST00000455077p.S548Rc.1644C>GSubstitution - Missense
GAB4ENSG00000215568ENST00000400588p.E558Kc.1672G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E6414Kc.19240G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000344979p.S571Sc.1713C>TSubstitution - coding silent
FAM208AENSG00000163946ENST00000355628p.V1247Ic.3739G>ASubstitution - Missense
TGFBR3ENSG00000069702ENST00000212355p.V568Mc.1702G>ASubstitution - Missense
MEGF11ENSG00000157890ENST00000395625p.S234Sc.702C>TSubstitution - coding silent
NCAM1ENSG00000149294ENST00000401611p.A586Vc.1757C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377329p.R424Cc.1270C>TSubstitution - Missense
TNFRSF17ENSG00000048462ENST00000053243p.H142Lc.425A>TSubstitution - Missense
BRSK2ENSG00000174672ENST00000382179p.D436Dc.1308C>TSubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.P187Pc.561A>CSubstitution - coding silent
COL2A1ENSG00000139219ENST00000380518p.R940*c.2818C>TSubstitution - Nonsense
ARHGEF17ENSG00000110237ENST00000263674p.G725Rc.2173G>ASubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.G718Gc.2154G>ASubstitution - coding silent
REC8ENSG00000100918ENST00000311457p.F306Fc.918C>TSubstitution - coding silent
SLC24A3ENSG00000185052ENST00000328041p.E410Kc.1228G>ASubstitution - Missense
KCNQ5ENSG00000185760ENST00000402622p.T97Pc.289A>CSubstitution - Missense
FAM182BENSG00000175170ENST00000376404p.?c.201+9T>CUnknown
ENST00000251268_v61p.S1329Fc.3986C>TSubstitution - Missense
LY75ENSG00000054219ENST00000263636p.D448Nc.1342G>ASubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.S707Fc.2120C>TSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.F571Sc.1712T>CSubstitution - Missense
FGBENSG00000171564ENST00000302068p.E345Kc.1033G>ASubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.V571Vc.1713G>ASubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.E405*c.1213G>TSubstitution - Nonsense
ZNF142ENSG00000115568ENST00000411696p.S1493Fc.4478C>TSubstitution - Missense
MECP2ENSG00000169057ENST00000303391p.E58Ec.174G>ASubstitution - coding silent
CLEC4FENSG00000152672ENST00000272367p.N551Sc.1652A>GSubstitution - Missense
NFKBIZENSG00000144802ENST00000326172p.F447Fc.1341C>TSubstitution - coding silent
KRT38ENSG00000171360ENST00000246646p.R190Rc.570G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000495273p.L16Lc.48C>GSubstitution - coding silent
TRAPPC8ENSG00000153339ENST00000283351p.M803Vc.2407A>GSubstitution - Missense
DTNAENSG00000134769ENST00000444659p.K176Rc.527A>GSubstitution - Missense
TMEM82ENSG00000162460ENST00000375782p.G304Sc.910G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E11386Dc.34158A>CSubstitution - Missense
TTC29ENSG00000137473ENST00000513335p.E219Kc.655G>ASubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.T310Ic.929C>TSubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.T310Ic.929C>TSubstitution - Missense
ZNF551ENSG00000204519ENST00000282296p.P607Lc.1820C>TSubstitution - Missense
SAMSN1ENSG00000155307ENST00000400566p.G132Rc.394G>ASubstitution - Missense
HAT1ENSG00000128708ENST00000264108p.N46Hc.136A>CSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.A660Gc.1979C>GSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.P320Sc.958C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.G988Rc.2962G>ASubstitution - Missense
ENST00000422365_v68p.G18Gc.54A>TSubstitution - coding silent
NOP2ENSG00000111641ENST00000399466p.L127Fc.379C>TSubstitution - Missense
BRSK2ENSG00000174672ENST00000308219p.D390Dc.1170C>TSubstitution - coding silent
DPP3ENSG00000254986ENST00000360510p.A97Ac.291G>ASubstitution - coding silent
NCAPG2ENSG00000146918ENST00000409423p.P685Lc.2054C>TSubstitution - Missense
IFRD2ENSG00000214706ENST00000429673p.?c.1216-7C>TUnknown
SYNE1ENSG00000131018ENST00000448038p.R3499Cc.10495C>TSubstitution - Missense
KCNIP1ENSG00000182132ENST00000377360p.Y170Hc.508T>CSubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.A182Tc.544G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R190Rc.570G>ASubstitution - coding silent
MBD3ENSG00000071655ENST00000156825p.A198Vc.593C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
PDIA4ENSG00000155660ENST00000286091p.F605Fc.1815C>TSubstitution - coding silent
PDGFRBENSG00000113721ENST00000261799p.D166Dc.498C>TSubstitution - coding silent
HSPA4ENSG00000170606ENST00000304858p.L284Fc.850C>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000437304p.I712Ic.2136C>TSubstitution - coding silent
PRDM1ENSG00000057657ENST00000369096p.V704Ac.2111T>CSubstitution - Missense
ROPN1LENSG00000145491ENST00000274134p.G77Ec.230G>ASubstitution - Missense
LYNX1ENSG00000180155ENST00000398906p.I8Ic.24C>TSubstitution - coding silent
DTNAENSG00000134769ENST00000554864p.K176Rc.527A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.M7514Lc.22540A>TSubstitution - Missense
ZNF846ENSG00000196605ENST00000397902p.H300Yc.898C>TSubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.R1120Hc.3359G>ASubstitution - Missense
CD5ENSG00000110448ENST00000347785p.?c.400+10T>AUnknown
TARBP1ENSG00000059588ENST00000040877p.T910Ic.2729C>TSubstitution - Missense
OR4Q3ENSG00000182652ENST00000331723p.P59Sc.175C>TSubstitution - Missense
LIPJENSG00000204022ENST00000371939p.A193Gc.578C>GSubstitution - Missense
LMBR1ENSG00000105983ENST00000354505p.A145Ac.435C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000380702p.S788Sc.2364C>TSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000455637p.T1709Kc.5126C>ASubstitution - Missense
ARID5BENSG00000150347ENST00000309334p.N527Dc.1579A>GSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.R83Wc.247C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.?c.5752-5T>GUnknown
AFF2ENSG00000155966ENST00000370460p.H820Yc.2458C>TSubstitution - Missense
ABRAENSG00000174429ENST00000311955p.D146Nc.436G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.R382Rc.1146G>ASubstitution - coding silent
LHX1ENSG00000132130ENST00000254457p.N392Sc.1175A>GSubstitution - Missense
GABRQENSG00000147402ENST00000370306p.E159Kc.475G>ASubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.E724Kc.2170G>ASubstitution - Missense
APOL2ENSG00000128335ENST00000358502p.T126Tc.378C>TSubstitution - coding silent
SEC31AENSG00000138674ENST00000395310p.?c.79+5G>AUnknown
IFT57ENSG00000114446ENST00000264538p.I263Ic.789C>TSubstitution - coding silent
PAK7ENSG00000101349ENST00000378429p.P342Hc.1025C>ASubstitution - Missense
ENST00000532796p.C349Cc.1047C>TSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381318p.L53Lc.157T>CSubstitution - coding silent
ULK2ENSG00000083290ENST00000361658p.L467Fc.1399C>TSubstitution - Missense
CNNM4ENSG00000158158ENST00000377075p.P181Lc.542C>TSubstitution - Missense
DUSP4ENSG00000120875ENST00000240101p.G54Gc.162C>GSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.A174Ac.522A>CSubstitution - coding silent
ANKS1BENSG00000185046ENST00000549493p.H268Yc.802C>TSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.T1929Tc.5787G>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.S1161Sc.3483C>TSubstitution - coding silent
NM_003319p.E8199Kc.24595G>ASubstitution - Missense
ALS2CLENSG00000178038ENST00000318962p.Y700Yc.2100C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.S2175Sc.6525T>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.Q3985*c.11953C>TSubstitution - Nonsense
FILIP1ENSG00000118407ENST00000393004p.E481Kc.1441G>ASubstitution - Missense
EHBP1ENSG00000115504ENST00000263991p.T1040Sc.3118A>TSubstitution - Missense
ARMC4ENSG00000169126ENST00000434029p.?c.619-7A>GUnknown
CCHCR1ENSG00000204536ENST00000376266p.S14fs*54c.40_41delTCDeletion - Frameshift
LMBR1ENSG00000105983ENST00000353442p.A145Ac.435C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000359149p.T924Tc.2772C>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.E724Kc.2170G>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.?c.5445-10T>AUnknown
TBC1D10AENSG00000099992ENST00000215790p.S317Fc.950C>TSubstitution - Missense
TOM1ENSG00000100284ENST00000449058p.E75Gc.224A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.W18548*c.55644G>ASubstitution - Nonsense
ENST00000356127p.E28091Kc.84271G>ASubstitution - Missense
CHODLENSG00000154645ENST00000299295p.G140Ec.419G>ASubstitution - Missense
GGCXENSG00000115486ENST00000233838p.L309Lc.927C>TSubstitution - coding silent
SORBS3ENSG00000120896ENST00000240123p.T238Mc.713C>TSubstitution - Missense
HPDENSG00000158104ENST00000289004p.S21Pc.61T>CSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.G469Gc.1407C>ASubstitution - coding silent
ZMYM1ENSG00000197056ENST00000373330p.S934delSc.2798_2800delCTTDeletion - In frame
ZFRENSG00000056097ENST00000265069p.T751Tc.2253T>CSubstitution - coding silent
C19orf18ENSG00000177025ENST00000314391p.A76Ac.228T>GSubstitution - coding silent
ENST00000411420p.R86Qc.257G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.?c.1633+3A>TUnknown
DTNAENSG00000134769ENST00000399121p.K176Rc.527A>GSubstitution - Missense
ENST00000554864_v68p.K176Rc.527A>GSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.P1488Lc.4463C>TSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.A623Ac.1869G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000344859p.G97Rc.289G>ASubstitution - Missense
HCAR3ENSG00000255398ENST00000528880p.A174Ac.522A>CSubstitution - coding silent
NAV2ENSG00000166833ENST00000360655p.S847Sc.2541C>TSubstitution - coding silent
FOSL1ENSG00000175592ENST00000312562p.C122Rc.364T>CSubstitution - Missense
NOP2ENSG00000111641ENST00000322166p.D130Dc.390C>TSubstitution - coding silent
PSG3ENSG00000221826ENST00000327495p.A117Pc.349G>CSubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.K1055Rc.3164A>GSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.P1126Sc.3376C>TSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.S1624Fc.4871C>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.I245Ic.735T>ASubstitution - coding silent
KAT8ENSG00000103510ENST00000219797p.S440Fc.1319C>TSubstitution - Missense
TLR10ENSG00000174123ENST00000361424p.F350Fc.1050C>TSubstitution - coding silent
CHRM2ENSG00000181072ENST00000320658p.S309Fc.926C>TSubstitution - Missense
POFUT2ENSG00000186866ENST00000349485p.R324Wc.970C>TSubstitution - Missense
DTNAENSG00000134769ENST00000315456p.K176Rc.527A>GSubstitution - Missense
POLR2AENSG00000181222ENST00000322644p.D1389Vc.4166A>TSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.V816Lc.2446G>TSubstitution - Missense
FAM171BENSG00000144369ENST00000304698p.S284Sc.852T>CSubstitution - coding silent
SLC27A3ENSG00000143554ENST00000368661p.?c.1886-9A>GUnknown
PPFIBP1ENSG00000110841ENST00000228425p.A617Ac.1851G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.G97Rc.289G>ASubstitution - Missense
GANCENSG00000214013ENST00000318010p.R667*c.1999C>TSubstitution - Nonsense
GABREENSG00000102287ENST00000393914p.S24Fc.71C>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.K1089Ec.3265A>GSubstitution - Missense
ENST00000428290_v65p.K1089Ec.3265A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.R3463Cc.10387C>TSubstitution - Missense
OR9G1ENSG00000174914ENST00000312153p.S74Tc.220T>ASubstitution - Missense
NM_024947.2p.P293Sc.877C>TSubstitution - Missense
ENSG00000073169ENST00000380903p.A637Tc.1909G>ASubstitution - Missense
MAATS1ENSG00000183833ENST00000273390p.L571Lc.1711C>TSubstitution - coding silent
ATG16L1ENSG00000085978ENST00000392017p.?c.1431-9C>TUnknown
UTRNENSG00000152818ENST00000367545p.D2240Hc.6718G>CSubstitution - Missense
ZNF329ENSG00000181894ENST00000358067p.A351Tc.1051G>ASubstitution - Missense
TMEM182ENSG00000170417ENST00000412401p.L122Lc.364C>TSubstitution - coding silent
RASGRP3ENSG00000152689ENST00000403687p.M636Ic.1908G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.M102Ic.306G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.P1758Lc.5273C>TSubstitution - Missense
ENST00000362023p.R24Qc.71G>ASubstitution - Missense
C20orf112ENSG00000197183ENST00000201961p.G114Sc.340G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.S2220Sc.6660T>GSubstitution - coding silent
POFUT2ENSG00000186866ENST00000331343p.R324Wc.970C>TSubstitution - Missense
PDE4AENSG00000065989ENST00000352831p.S810Sc.2430C>TSubstitution - coding silent
PPM1DENSG00000170836ENST00000305921p.P267Sc.799C>TSubstitution - Missense
ALKBH7ENSG00000125652ENST00000245812p.G195Cc.583G>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.H1090Yc.3268C>TSubstitution - Missense
LGMNENSG00000100600ENST00000334869p.A12Ac.36C>TSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.A174Ac.522A>CSubstitution - coding silent
COL2A1ENSG00000139219ENST00000337299p.R871*c.2611C>TSubstitution - Nonsense
NM_001380.2p.Q205Lc.614A>TSubstitution - Missense
XPOTENSG00000184575ENST00000332707p.F722Lc.2166C>ASubstitution - Missense
SPIRE2ENSG00000204991ENST00000378247p.R696Cc.2086C>TSubstitution - Missense
POLR1BENSG00000125630ENST00000541869p.S258Fc.773C>TSubstitution - Missense
OR52N4ENSG00000181074ENST00000317254p.H90Yc.268C>TSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.A1026Tc.3076G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.R1849Wc.5545C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.F1885Fc.5655C>TSubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.G97Rc.289G>ASubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.R492Hc.1475G>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.E3875Kc.11623G>ASubstitution - Missense
ENST00000234505p.R479Gc.1435A>GSubstitution - Missense
CD1BENSG00000158485ENST00000368168p.R327Wc.979C>TSubstitution - Missense
DCTENSG00000080166ENST00000377028p.F436Fc.1308C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.E8391Kc.25171G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.F1886Fc.5658C>TSubstitution - coding silent
ITSN1ENSG00000205726ENST00000399338p.L53Lc.157T>CSubstitution - coding silent
TPK1ENSG00000196511ENST00000360057p.I122Tc.365T>CSubstitution - Missense
GABREENSG00000102287ENST00000370328p.S217Fc.650C>TSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.?c.3201-6C>TUnknown
NDST3ENSG00000164100ENST00000296499p.H227Yc.679C>TSubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.N790Dc.2368A>GSubstitution - Missense
FAM182BENSG00000175170ENST00000376403p.A73Ac.219T>CSubstitution - coding silent
RAD54L2ENSG00000164080ENST00000409535p.T1344Ac.4030A>GSubstitution - Missense
POFUT2ENSG00000186866ENST00000331343p.H323Hc.969C>TSubstitution - coding silent
ZNF557ENSG00000130544ENST00000252840p.L60Lc.180G>ASubstitution - coding silent
XM_210042.4p.E86Kc.256G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.M7514Lc.22540A>TSubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.H831Yc.2491C>TSubstitution - Missense
TIE1ENSG00000066056ENST00000538015p.Q360Qc.1080G>ASubstitution - coding silent
MBD6ENSG00000166987ENST00000355673p.G877Cc.2629G>TSubstitution - Missense
LCP1ENSG00000136167ENST00000323076p.A250Vc.749C>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.?c.568+7C>AUnknown
ZNF778ENSG00000170100ENST00000433976p.I608Rc.1823T>GSubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.N856Dc.2566A>GSubstitution - Missense
PLCB1ENSG00000182621ENST00000404098p.M101Ic.303G>ASubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.A1045Tc.3133G>ASubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.E452Ec.1356G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.H295Yc.883C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.R1862Kc.5585G>ASubstitution - Missense
DPP7ENSG00000176978ENST00000371579p.G67Gc.201C>TSubstitution - coding silent
ADAD1ENSG00000164113ENST00000296513p.?c.1488-8C>TUnknown
SLC4A7ENSG00000033867ENST00000295736p.S667Rc.2001C>GSubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.S422fs*15c.1263delTDeletion - Frameshift
NM_003319p.I20065Ic.60195T>ASubstitution - coding silent
GSDMAENSG00000167914ENST00000301659p.G77Gc.231G>ASubstitution - coding silent
CNGA1ENSG00000198515ENST00000358519p.T660Pc.1978A>CSubstitution - Missense
GPLD1ENSG00000112293ENST00000230036p.P600Pc.1800G>ASubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.?c.1023-5C>TUnknown
SEPN1ENSG00000162430ENST00000361547p.P211Sc.631C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.D1237Nc.3709G>ASubstitution - Missense
MTORENSG00000198793ENST00000361445p.R1612Qc.4835G>ASubstitution - Missense
OR11L1ENSG00000197591ENST00000355784p.F178Fc.534C>TSubstitution - coding silent
PRM1ENSG00000175646ENST00000312511p.R25Qc.74G>ASubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.D460Ec.1380T>ASubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
ENST00000368148p.A1035Ac.3105C>TSubstitution - coding silent
DGKZENSG00000149091ENST00000343674p.Q241Rc.722A>GSubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.R119Cc.355C>TSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.H1433Yc.4297C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.R1084Qc.3251G>ASubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.H31Rc.92A>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.K1217Ec.3649A>GSubstitution - Missense
BRSK2ENSG00000174672ENST00000308230p.D390Dc.1170C>TSubstitution - coding silent
TMEM145ENSG00000167619ENST00000301204p.G318Ec.953G>ASubstitution - Missense
NM_017760.4p.P685Lc.2054C>TSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.H31Rc.92A>GSubstitution - Missense
LSRENSG00000105699ENST00000361790p.V427Gc.1280T>GSubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372190p.A651Vc.1952C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.P6516Lc.19547C>TSubstitution - Missense
PSIP1ENSG00000164985ENST00000380733p.?c.149+5G>CUnknown
HIVEP2ENSG00000010818ENST00000012134p.G860Rc.2578G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000332712p.H208Yc.622C>TSubstitution - Missense
ENST00000434489p.P224Sc.670C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.M1113Ic.3339G>ASubstitution - Missense
COG5ENSG00000164597ENST00000297135p.H396Yc.1186C>TSubstitution - Missense
PCDHA6ENSG00000081842ENST00000378126p.H31Rc.92A>GSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.R160Rc.480G>ASubstitution - coding silent
FILIP1ENSG00000118407ENST00000237172p.E481Kc.1441G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.R3499Cc.10495C>TSubstitution - Missense
CPB1ENSG00000153002ENST00000282957p.F28Fc.84C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.W12176*c.36528G>ASubstitution - Nonsense
ENST00000250872p.S183Cc.547A>TSubstitution - Missense
DUSP4ENSG00000120875ENST00000240100p.G145Gc.435C>GSubstitution - coding silent
NCAM1ENSG00000149294ENST00000316851p.A577Vc.1730C>TSubstitution - Missense
KNTC1ENSG00000184445ENST00000333479p.G850Ec.2549G>ASubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.P2211Pc.6633A>CSubstitution - coding silent
CCDC181ENSG00000117477ENST00000367805p.A453fs*6c.1357delGDeletion - Frameshift
PRKRIRENSG00000137492ENST00000260045p.N563Sc.1688A>GSubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.*157Sc.470G>CNonstop extension
SH2D3CENSG00000095370ENST00000373276p.E344Kc.1030G>ASubstitution - Missense
ENST00000449000p.W417*c.1251G>ASubstitution - Nonsense
CEACAM1ENSG00000079385ENST00000161559p.T393Tc.1179G>ASubstitution - coding silent
CCHCR1ENSG00000204536ENST00000396268p.S103fs*54c.307_308delTCDeletion - Frameshift
RIMS2ENSG00000176406ENST00000507740p.R190Rc.570G>ASubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.F2920Fc.8760C>TSubstitution - coding silent
DNAJC13ENSG00000138246ENST00000260818p.V1783Vc.5349T>CSubstitution - coding silent
ENST00000396788p.S1330Fc.3989C>TSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.A457Vc.1370C>TSubstitution - Missense
SEC31AENSG00000138674ENST00000432794p.?c.79+5G>AUnknown
NPHP1ENSG00000144061ENST00000316534p.I573fs*10c.1719delTDeletion - Frameshift
GCKRENSG00000084734ENST00000264717p.S183Fc.548C>TSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.R1421Rc.4263G>ASubstitution - coding silent
MGAT5BENSG00000167889ENST00000301618p.A692Ac.2076C>TSubstitution - coding silent
NM_018993.2p.F367Lc.1099T>CSubstitution - Missense
FYBENSG00000082074ENST00000351578p.T564Kc.1691C>ASubstitution - Missense
DCLK1ENSG00000133083ENST00000379893p.P429Sc.1285C>TSubstitution - Missense
SLC2A14ENSG00000173262ENST00000396589p.S95Sc.285C>TSubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.P378Sc.1132C>TSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.Q135Kc.403C>ASubstitution - Missense
PRXENSG00000105227ENST00000324001p.G1267Rc.3799G>ASubstitution - Missense
EGR1ENSG00000120738ENST00000239938p.L277Lc.829C>TSubstitution - coding silent
CRTC1ENSG00000105662ENST00000321949p.L285Lc.855G>TSubstitution - coding silent
TPRNENSG00000176058ENST00000321773p.R330Wc.988C>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.G692Dc.2075G>ASubstitution - Missense
CCDC138ENSG00000163006ENST00000295124p.I396Tc.1187T>CSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.A1078Tc.3232G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.A2478Ac.7434G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.I26562Ic.79686T>ASubstitution - coding silent
KCNAB3ENSG00000170049ENST00000303790p.V113Mc.337G>ASubstitution - Missense
POLR2AENSG00000181222ENST00000322644p.A391Vc.1172C>TSubstitution - Missense
BFSP1ENSG00000125864ENST00000377868p.V172Vc.516C>TSubstitution - coding silent
CD5ENSG00000110448ENST00000347785p.G287Gc.861C>ASubstitution - coding silent
WHAMMENSG00000156232ENST00000286760p.R479Gc.1435A>GSubstitution - Missense
DGKZENSG00000149091ENST00000421244p.Q225Rc.674A>GSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.E412Kc.1234G>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.R915Cc.2743C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.D244Nc.730G>ASubstitution - Missense
TOM1ENSG00000100284ENST00000436462p.E37Gc.110A>GSubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.N138fs*5c.410delADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.E12719Kc.38155G>ASubstitution - Missense
ENST00000356127p.W18546*c.55638G>ASubstitution - Nonsense
ZNF789ENSG00000198556ENST00000331410p.W66*c.198G>ASubstitution - Nonsense
MCMDC2ENSG00000178460ENST00000396592p.G18Gc.54A>TSubstitution - coding silent
AKAP6ENSG00000151320ENST00000280979p.S929Sc.2787C>TSubstitution - coding silent
ENST00000370343p.E599Ec.1797A>GSubstitution - coding silent


COSMIC

8 mutations reported
1 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
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense12068308
APCENSG00000134982ENST00000457016p.D777fs*2c.2329_2332delGACADeletion - Frameshift10737795
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense16170021
FBXW7ENSG00000109670ENST00000281708p.R278*c.832C>TSubstitution - Nonsense16357143
CDKN2AENSG00000147889ENST00000304494p.*157Sc.470G>CNonstop extension9354451
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense18483309
CDKN2AENSG00000147889ENST00000304494p.?c.1_150del150Unknown8938142
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense15048078