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SBC-3 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

931 mutations reported
374 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
NNMTENSG00000166741ENST00000299964p.?c.154+10T>CUnknown
GPR158ENSG00000151025ENST00000376351p.S853Sc.2559G>TSubstitution - coding silent
LPAENSG00000198670ENST00000316300p.T1349Mc.4046C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.P36Pc.108G>ASubstitution - coding silent
KCNRGENSG00000198553ENST00000312942p.K271Nc.813G>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.S781Lc.2342C>TSubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.E194Kc.580G>ASubstitution - Missense
DTX3ENSG00000178498ENST00000548804p.P24Pc.72C>TSubstitution - coding silent
GK2ENSG00000196475ENST00000358842p.C283Fc.848G>TSubstitution - Missense
PRF1ENSG00000180644ENST00000373209p.R385Wc.1153C>TSubstitution - Missense
TTPALENSG00000124120ENST00000262605p.R147Cc.439C>TSubstitution - Missense
KITENSG00000157404ENST00000288135p.D910Yc.2728G>TSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.K100Kc.300G>ASubstitution - coding silent
SLIT1ENSG00000187122ENST00000266058p.V692Mc.2074G>ASubstitution - Missense
ENST00000358313p.C159Yc.476G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000351293p.?c.1161-7C>TUnknown
TLR5ENSG00000187554ENST00000366881p.L77Rc.230T>GSubstitution - Missense
RASSF4ENSG00000107551ENST00000340258p.R43Rc.129A>GSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.A343Tc.1027G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.?c.2809-9T>AUnknown
POU4F1ENSG00000152192ENST00000377208p.A67Ac.201C>TSubstitution - coding silent
MYL2ENSG00000111245ENST00000228841p.A102Tc.304G>ASubstitution - Missense
SELPLGENSG00000110876ENST00000550948p.P176Lc.527C>TSubstitution - Missense
SELPLGENSG00000110876ENST00000388962p.P166Lc.497C>TSubstitution - Missense
TDRD3ENSG00000083544ENST00000377894p.F94Vc.280T>GSubstitution - Missense
RCBTB2ENSG00000136161ENST00000344532p.L20Lc.58C>TSubstitution - coding silent
TNFSF11ENSG00000120659ENST00000239849p.L104Pc.311T>CSubstitution - Missense
MYL6BENSG00000196465ENST00000207437p.V92Mc.274G>ASubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.V201Ec.602T>ASubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.N872Sc.2615A>GSubstitution - Missense
TMEM68ENSG00000167904ENST00000334667p.?c.687+9T>CUnknown
MUC4ENSG00000145113ENST00000463781p.P1074Sc.3220C>TSubstitution - Missense
ENST00000251757p.Q389*c.1165C>TSubstitution - Nonsense
ATP2A3ENSG00000074370ENST00000359983p.V146Ic.436G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.G1319Sc.3955G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.G1119Sc.3355G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.F76Fc.228C>TSubstitution - coding silent
EGR1ENSG00000120738ENST00000239938p.F396Fc.1188C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.R634Qc.1901G>ASubstitution - Missense
SCAMP5ENSG00000198794ENST00000425597p.A207Tc.619G>ASubstitution - Missense
SCAMP5ENSG00000198794ENST00000361900p.A215Tc.643G>ASubstitution - Missense
ZBTB6ENSG00000186130ENST00000373659p.D41Nc.121G>ASubstitution - Missense
KPNA5ENSG00000196911ENST00000368564p.R30Qc.89G>ASubstitution - Missense
TMEM173ENSG00000184584ENST00000330794p.R197Qc.590G>ASubstitution - Missense
NM_053025p.S1281Sc.3843C>TSubstitution - coding silent
ENST00000538912p.G245Gc.735C>TSubstitution - coding silent
SLC5A8ENSG00000256870ENST00000536262p.L291Fc.871C>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.H844Lc.2531A>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.R358Rc.1072A>CSubstitution - coding silent
CALHM3ENSG00000183128ENST00000369783p.R83Qc.248G>ASubstitution - Missense
CALHM3ENSG00000183128ENST00000369783p.R83Qc.248G>ASubstitution - Missense
ABCC2ENSG00000023839ENST00000370449p.K961Rc.2882A>GSubstitution - Missense
FGFR2ENSG00000066468ENST00000457416p.L552fs*11c.1655_1665del11Deletion - Frameshift
FGFR2ENSG00000066468ENST00000358487p.L551fs*11c.1652_1662del11Deletion - Frameshift
FGFR2ENSG00000066468ENST00000351936p.L549fs*11c.1646_1656del11Deletion - Frameshift
HABP2ENSG00000148702ENST00000351270p.T114Tc.342G>TSubstitution - coding silent
APAF1ENSG00000120868ENST00000551964p.Y68Yc.204C>TSubstitution - coding silent
OR2AG1ENSG00000170803ENST00000307401p.R299Wc.895C>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.P3009Pc.9027G>ASubstitution - coding silent
IRF7ENSG00000185507ENST00000330243p.W391*c.1173G>ASubstitution - Nonsense
PHRF1ENSG00000070047ENST00000416188p.K1135Ec.3403A>GSubstitution - Missense
MPEG1ENSG00000197629ENST00000361050p.V281Lc.841G>CSubstitution - Missense
ENST00000336353p.Q295*c.883C>TSubstitution - Nonsense
RABGGTAENSG00000100949ENST00000399409p.M277Ic.831G>TSubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.T2500Sc.7499C>GSubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.S2466Sc.7398G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.V4328Ac.12983T>CSubstitution - Missense
C10orf90ENSG00000154493ENST00000284694p.R219Gc.655A>GSubstitution - Missense
CHST15ENSG00000182022ENST00000346248p.E278Ec.834G>ASubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.V725Vc.2175A>CSubstitution - coding silent
OR5P3ENSG00000182334ENST00000328375p.R51delRc.153_155delAAGDeletion - In frame
PLIN1ENSG00000166819ENST00000300055p.V222Vc.666T>GSubstitution - coding silent
ENST00000268134p.P36Pc.108G>ASubstitution - coding silent
NTRK3ENSG00000140538ENST00000360948p.L134Lc.402G>CSubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.T2775Ac.8323A>GSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.I293Sc.878T>GSubstitution - Missense
ENSG00000143674ENST00000366624p.E478Gc.1433A>GSubstitution - Missense
SU_OBSCN.1p.K6432Kc.19296G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.K5850Kc.17550G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.L3632Lc.10894C>TSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
OR4X2ENSG00000172208ENST00000302329p.L198Vc.592C>GSubstitution - Missense
ZSCAN29ENSG00000140265ENST00000396976p.S37Ic.110G>TSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.D583Nc.1747G>ASubstitution - Missense
C1orf56ENSG00000143443ENST00000368926p.C306Fc.917G>TSubstitution - Missense
MCL1ENSG00000143384ENST00000369026p.?c.688+2_689del351Unknown
HIST2H2BEENSG00000184678ENST00000369155p.K58Nc.174G>TSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.F842Fc.2526C>TSubstitution - coding silent
DCLRE1BENSG00000118655ENST00000369563p.P459Ac.1375C>GSubstitution - Missense
ZFP69BENSG00000187801ENST00000411995p.Y419Yc.1257T>CSubstitution - coding silent
ZFP69BENSG00000187801ENST00000361584p.Y317Yc.951T>CSubstitution - coding silent
EHBP1L1ENSG00000173442ENST00000309295p.G551Vc.1652G>TSubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.P883Tc.2647C>ASubstitution - Missense
MCUENSG00000156026ENST00000373053p.S72Pc.214T>CSubstitution - Missense
SLC29A3ENSG00000198246ENST00000373189p.V214Mc.640G>ASubstitution - Missense
WDFY4ENSG00000128815ENST00000265453p.?c.343-5C>TUnknown
BLMENSG00000197299ENST00000355112p.V765Ic.2293G>ASubstitution - Missense
TTLL5ENSG00000119685ENST00000298832p.A164Sc.490G>TSubstitution - Missense
PCNXENSG00000100731ENST00000304743p.N497Sc.1490A>GSubstitution - Missense
PLEKHD1ENSG00000175985ENST00000322564p.R366Qc.1097G>ASubstitution - Missense
C16orf62ENSG00000103544ENST00000438132p.K298Nc.894A>CSubstitution - Missense
ENST00000367355p.L58Lc.174G>TSubstitution - coding silent
TAS1R2ENSG00000179002ENST00000375371p.R317Pc.950G>CSubstitution - Missense
BCL9ENSG00000116128ENST00000234739p.?c.560+9A>CUnknown
DRAM2ENSG00000156171ENST00000286692p.S177Lc.530C>TSubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.S936Sc.2808T>CSubstitution - coding silent
ENST00000381363p.P112Lc.335C>TSubstitution - Missense
AMPD3ENSG00000133805ENST00000396554p.Y376Yc.1128C>TSubstitution - coding silent
MMP10ENSG00000166670ENST00000279441p.?c.787+1G>CUnknown
MUC6ENSG00000184956ENST00000421673p.G1901Rc.5701G>ASubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.S572Cc.1715C>GSubstitution - Missense
IL10RAENSG00000110324ENST00000227752p.R63Gc.187A>GSubstitution - Missense
APOA4ENSG00000110244ENST00000357780p.S353Sc.1059C>TSubstitution - coding silent
AXDND1ENSG00000162779ENST00000367618p.K217Ec.649A>GSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.V234Mc.700G>ASubstitution - Missense
ENST00000318117p.?c.149-4C>TUnknown
GRIK3ENSG00000163873ENST00000373091p.H58Hc.174T>CSubstitution - coding silent
CCDC27ENSG00000162592ENST00000294600p.Q477*c.1429C>TSubstitution - Nonsense
MEGF6ENSG00000162591ENST00000356575p.G922*c.2764G>TSubstitution - Nonsense
SLC19A2ENSG00000117479ENST00000236137p.R327Hc.980G>ASubstitution - Missense
CSNK1A1LENSG00000180138ENST00000379800p.K335*c.1003A>TSubstitution - Nonsense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
PRICKLE1ENSG00000139174ENST00000345127p.P78Pc.234A>CSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.L1040Qc.3119T>ASubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.S380Sc.1140C>TSubstitution - coding silent
PKD1L2ENSG00000166473ENST00000525539p.P1202Lc.3605C>TSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.Y125Hc.373T>CSubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.L1020Rc.3059T>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.L1110Lc.3328C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000375604p.L1163Lc.3487C>TSubstitution - coding silent
ING1ENSG00000153487ENST00000375774p.P319Sc.955C>TSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.K434Qc.1300A>CSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.H650Qc.1950C>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.H650Qc.1950C>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.I828Mc.2484C>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.I828Mc.2484C>GSubstitution - Missense
BTBD7ENSG00000011114ENST00000334746p.N99Sc.296A>GSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
CATSPERBENSG00000133962ENST00000256343p.V1000Ic.2998G>ASubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.P316Tc.946C>ASubstitution - Missense
PSMC6ENSG00000100519ENST00000445930p.D300Gc.899A>GSubstitution - Missense
ENST00000216407p.D286Gc.857A>GSubstitution - Missense
REREENSG00000142599ENST00000400908p.N367Sc.1100A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.A1055Ac.3165T>CSubstitution - coding silent
LPHN2ENSG00000117114ENST00000359929p.A1027Ac.3081T>CSubstitution - coding silent
THAP3ENSG00000041988ENST00000054650p.S99Rc.297T>GSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.Y896Yc.2688C>TSubstitution - coding silent
ATG4CENSG00000125703ENST00000371120p.?c.394+2T>CUnknown
C1orf168ENSG00000187889ENST00000343433p.D576Vc.1727A>TSubstitution - Missense
C8AENSG00000157131ENST00000361249p.R485Rc.1455C>ASubstitution - coding silent
NCOR2ENSG00000196498ENST00000405201p.L1614Lc.4842G>CSubstitution - coding silent
FAM227BENSG00000166262ENST00000299338p.?c.405+3A>GUnknown
CDK18ENSG00000117266ENST00000429964p.R426Wc.1276C>TSubstitution - Missense
CDK18ENSG00000117266ENST00000506784p.R456Wc.1366C>TSubstitution - Missense
HCN3ENSG00000143630ENST00000368358p.D398Nc.1192G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.?c.571-7G>TUnknown
DENND4BENSG00000198837ENST00000361217p.?c.426-7G>TUnknown
CPNE8ENSG00000139117ENST00000331366p.V296Fc.886G>TSubstitution - Missense
ENST00000266524p.Q815Qc.2445A>GSubstitution - coding silent
MROH7ENSG00000184313ENST00000339553p.S1037Rc.3111C>ASubstitution - Missense
UGT2A1ENSG00000173610ENST00000503640p.I256Ic.768C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.Q473Kc.1417C>ASubstitution - Missense
CD8AENSG00000153563ENST00000283635p.A80Tc.238G>ASubstitution - Missense
PDXKENSG00000160209ENST00000291565p.?c.379-9G>AUnknown
ZNF799ENSG00000196466ENST00000430385p.Q145Qc.435A>GSubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.D1668Nc.5002G>ASubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.V1185_S1186insMADVc.3539_3540ins12Insertion - In frame
P4HBENSG00000185624ENST00000331483p.S88Cc.263C>GSubstitution - Missense
GAAENSG00000171298ENST00000390015p.P444Pc.1332T>CSubstitution - coding silent
ENST00000262401p.?c.1081+8G>CUnknown
CSH1ENSG00000136488ENST00000316193p.S111Wc.332C>GSubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.A307Vc.920C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D3082Dc.9246C>TSubstitution - coding silent
ENTPD4ENSG00000197217ENST00000358689p.R594Rc.1780C>ASubstitution - coding silent
FAM208AENSG00000163946ENST00000355628p.N965Sc.2894A>GSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000338458p.A322Gc.965C>GSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000413728p.A296Gc.887C>GSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.A290Gc.869C>GSubstitution - Missense
ANKRD20A1ENSG00000196774ENST00000377477p.?c.979+5G>AUnknown
GLDCENSG00000178445ENST00000321612p.P223Rc.668C>GSubstitution - Missense
TTYH1ENSG00000167614ENST00000376531p.G86Rc.256G>ASubstitution - Missense
ENST00000359032_v68p.?c.1953+5G>AUnknown
AP2A1ENSG00000196961ENST00000359032p.?c.1953+5G>AUnknown
TDRD12ENSG00000173809ENST00000444215p.T824Tc.2472C>TSubstitution - coding silent
OAZ1ENSG00000104904ENST00000322297p.G144Gc.432C>TSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.T551Tc.1653G>ASubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.L172Fc.514C>TSubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.R1367Rc.4101G>ASubstitution - coding silent
WDR81ENSG00000167716ENST00000309182p.R316Rc.948G>ASubstitution - coding silent
WDR81ENSG00000167716ENST00000437219p.R164Rc.492G>ASubstitution - coding silent
ADAMTS10ENSG00000142303ENST00000270328p.R907Rc.2721C>GSubstitution - coding silent
ENST00000320400p.Q355Rc.1064A>GSubstitution - Missense
DEFA3ENSG00000239839ENST00000327857p.D50Dc.150C>TSubstitution - coding silent
MCPH1ENSG00000147316ENST00000344683p.D758Dc.2274C>TSubstitution - coding silent
MAP2ENSG00000078018ENST00000360351p.V501Ic.1501G>ASubstitution - Missense
WDR75ENSG00000115368ENST00000314761p.E576Ac.1727A>CSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.Y626Hc.1876T>CSubstitution - Missense
ENST00000356127p.K3709Rc.11126A>GSubstitution - Missense
TGM3ENSG00000125780ENST00000381458p.F384Lc.1152C>GSubstitution - Missense
SPTLC3ENSG00000172296ENST00000450297p.G208Gc.624C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A22354_G22355delAGc.67061_67066delCTGGTGDeletion - In frame
ENST00000356127p.A28724_G28725delAGc.86171_86176delCTGGTGDeletion - In frame
TTNENSG00000155657ENST00000342175p.A22421_G22422delAGc.67262_67267delCTGGTGDeletion - In frame
TTNENSG00000155657ENST00000342175p.G22422Gc.67266T>ASubstitution - coding silent
NM_003319p.G22230Gc.66690T>ASubstitution - coding silent
TTC30AENSG00000197557ENST00000355689p.E529Dc.1587G>TSubstitution - Missense
TRMT2AENSG00000099899ENST00000252136p.A417Ac.1251C>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000404751p.A417Ac.1251C>TSubstitution - coding silent
KDSRENSG00000119537ENST00000406396p.R316Rc.948T>CSubstitution - coding silent
TCF4ENSG00000196628ENST00000398339p.W51*c.153G>ASubstitution - Nonsense
KCNB2ENSG00000182674ENST00000523207p.R36Tc.107G>CSubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.D45Dc.135T>CSubstitution - coding silent
KIAA1875ENSG00000179698ENST00000323662p.L635_L636insSLc.1905_1906insAGCCTGInsertion - In frame
PLECENSG00000178209ENST00000322810p.G3713Gc.11139C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.G3603Gc.10809C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.G3576Gc.10728C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.G3499Gc.10497C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.G3472Gc.10416C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.V1481Mc.4441G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.S534Sc.1602C>ASubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.S534Sc.1602C>ASubstitution - coding silent
ALAS1ENSG00000023330ENST00000394965p.S334Ac.1000T>GSubstitution - Missense
GRM2ENSG00000164082ENST00000395052p.G214Gc.642C>TSubstitution - coding silent
BSNENSG00000164061ENST00000296452p.G3627Vc.10880G>TSubstitution - Missense
APEHENSG00000164062ENST00000296456p.D346Yc.1036G>TSubstitution - Missense
CORINENSG00000145244ENST00000273857p.F845Fc.2535C>TSubstitution - coding silent
NFXL1ENSG00000170448ENST00000381538p.N532Sc.1595A>GSubstitution - Missense
KLBENSG00000134962ENST00000257408p.C988Rc.2962T>CSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.H1409Hc.4227C>TSubstitution - coding silent
SCAF4ENSG00000156304ENST00000286835p.I857Ic.2571C>TSubstitution - coding silent
C17orf85ENSG00000074356ENST00000389005p.I78Ic.234T>CSubstitution - coding silent
XM_290799.5p.G769Ec.2306G>ASubstitution - Missense
CETPENSG00000087237ENST00000200676p.H24Hc.72C>TSubstitution - coding silent
MT1BENSG00000169688ENST00000334346p.C32Fc.95G>TSubstitution - Missense
BBS2ENSG00000125124ENST00000245157p.H248Hc.744T>CSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.S157_S159delSSSc.469_477delAGCAGCAGCDeletion - In frame
ABCC11ENSG00000121270ENST00000356608p.E1109Kc.3325G>ASubstitution - Missense
SOWAHBENSG00000186212ENST00000334306p.P363Lc.1088C>TSubstitution - Missense
SOWAHBENSG00000186212ENST00000334306p.G101fs*146c.302delGDeletion - Frameshift
BTCENSG00000174808ENST00000395743p.G162Gc.486T>ASubstitution - coding silent
LARP7ENSG00000174720ENST00000324052p.R548Qc.1643G>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S3196Sc.9588A>TSubstitution - coding silent
CCDC135ENSG00000159625ENST00000360716p.F754Fc.2262C>TSubstitution - coding silent
GPR56ENSG00000205336ENST00000379696p.V395Mc.1183G>ASubstitution - Missense
TMEM232ENSG00000186952ENST00000455884p.?c.1027-3C>TUnknown
ADH5ENSG00000197894ENST00000296412p.?c.564+1_565-1del151Unknown
GOLGA4ENSG00000144674ENST00000361924p.N353Dc.1057A>GSubstitution - Missense
PDCL3ENSG00000115539ENST00000264254p.A33Ac.99A>GSubstitution - coding silent
OTOP2ENSG00000183034ENST00000331427p.T394Ic.1181C>TSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.?c.4185-7C>TUnknown
NLRP8ENSG00000179709ENST00000291971p.R412Kc.1235G>ASubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.D551Nc.1651G>ASubstitution - Missense
ENST00000318252p.V1713Lc.5137G>TSubstitution - Missense
PYURFENSG00000145337ENST00000273968p.R48Gc.142C>GSubstitution - Missense
PYURFENSG00000145337ENST00000273968p.R48Gc.142C>GSubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.P145Qc.434C>ASubstitution - Missense
ADH5ENSG00000197894ENST00000296412p.?c.256+3_258del522Unknown
ENST00000336674p.T494Nc.1481C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1042Sc.3124C>TSubstitution - Missense
ENST00000405167p.P1042Sc.3124C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V1203Lc.3607G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2112Tc.6334G>ASubstitution - Missense
ENST00000405167p.H2109Hc.6327C>TSubstitution - coding silent
HEATR5BENSG00000008869ENST00000233099p.L1649Lc.4947A>GSubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.R1638Qc.4913G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.R1638Qc.4913G>ASubstitution - Missense
ENST00000333679p.A558Ac.1674C>TSubstitution - coding silent
DIDO1ENSG00000101191ENST00000395343p.P1673Lc.5018C>TSubstitution - Missense
LILRB5ENSG00000105609ENST00000450632p.?c.1550-9G>TUnknown
LENG1ENSG00000105617ENST00000222224p.M1Rc.2T>GSubstitution - Missense
VSTM1ENSG00000189068ENST00000338372p.A33Tc.97G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.L962Mc.2884C>ASubstitution - Missense
GPT2ENSG00000166123ENST00000340124p.K280Rc.839A>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.Y689Yc.2067C>TSubstitution - coding silent
ENSG00000182329ENST00000295844p.A82Vc.245C>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000450242p.L462Sc.1385T>CSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.S3993Fc.11978C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A16835Pc.50503G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A10530Pc.31588G>CSubstitution - Missense
CLDN18ENSG00000066405ENST00000183605p.G59Rc.175G>CSubstitution - Missense
ENST00000409867_v68p.T247Tc.741G>ASubstitution - coding silent
ANKRD30BLENSG00000163046ENST00000409867p.T247Tc.741G>ASubstitution - coding silent
SULT2A1ENSG00000105398ENST00000222002p.L245Fc.733C>TSubstitution - Missense
ENST00000317082p.P1260Pc.3780G>ASubstitution - coding silent
ENST00000317082_v61p.P1260Pc.3780G>ASubstitution - coding silent
MAU2ENSG00000129933ENST00000392313p.?c.1077+4A>GUnknown
CRTC1ENSG00000105662ENST00000321949p.T625Tc.1875C>GSubstitution - coding silent
TTC39BENSG00000155158ENST00000512701p.P480Sc.1438C>TSubstitution - Missense
NM_152574.1p.P414Sc.1240C>TSubstitution - Missense
UAP1L1ENSG00000197355ENST00000409858p.G131Rc.391G>ASubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.P885Pc.2655G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T4676Nc.14027C>ASubstitution - Missense
GIGYF1ENSG00000146830ENST00000275732p.Y39Cc.116A>GSubstitution - Missense
USP45ENSG00000123552ENST00000500704p.T310Ic.929C>TSubstitution - Missense
PPP2R5DENSG00000112640ENST00000485511p.A105Tc.313G>ASubstitution - Missense
USP49ENSG00000164663ENST00000373006p.A228Tc.682G>ASubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.P1357Sc.4069C>TSubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.Q207Qc.621A>GSubstitution - coding silent
MARVELD2ENSG00000152939ENST00000325631p.P102Lc.305C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.K1579Tc.4736A>CSubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.G800Gc.2400C>TSubstitution - coding silent
ENST00000344062p.L384Lc.1152G>ASubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.L294Lc.880C>TSubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.R348Rc.1044C>TSubstitution - coding silent
PARP14ENSG00000173193ENST00000474629p.V160Vc.480G>CSubstitution - coding silent
KLHL29ENSG00000119771ENST00000288548p.E119Kc.355G>ASubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.E68Kc.202G>ASubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.Q848Rc.2543A>GSubstitution - Missense
UGT1A9ENSG00000241119ENST00000354728p.Y242*c.726T>GSubstitution - Nonsense
DGKDENSG00000077044ENST00000264057p.E971Gc.2912A>GSubstitution - Missense
ENST00000359743p.S508Sc.1524G>TSubstitution - coding silent
SU_SPEGp.S3190Sc.9570C>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.A1177Ac.3531C>TSubstitution - coding silent
GLI2ENSG00000074047ENST00000361492p.V213Mc.637G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.?c.556-9C>AUnknown
MAGEB18ENSG00000176774ENST00000325250p.R331Hc.992G>ASubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.S327Sc.981C>GSubstitution - coding silent
COL28A1ENSG00000215018ENST00000399429p.R368Kc.1103G>ASubstitution - Missense
GMPRENSG00000137198ENST00000259727p.V123Fc.367G>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.P163Qc.488C>ASubstitution - Missense
MAPK9ENSG00000050748ENST00000455781p.E365Kc.1093G>ASubstitution - Missense
ENST00000425471_v68p.G223Gc.669C>TSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.E1780Kc.5338G>ASubstitution - Missense
ECH1ENSG00000104823ENST00000221418p.R148*c.442C>TSubstitution - Nonsense
GPSM1ENSG00000160360ENST00000354753p.L599Pc.1796T>CSubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372190p.L529Lc.1587G>ASubstitution - coding silent
AFAP1L1ENSG00000157510ENST00000296721p.S532Sc.1596C>TSubstitution - coding silent
LAMP3ENSG00000078081ENST00000265598p.V230Fc.688G>TSubstitution - Missense
PIP5K1CENSG00000186111ENST00000335312p.T543Mc.1628C>TSubstitution - Missense
MKS1ENSG00000011143ENST00000393119p.R108Hc.323G>ASubstitution - Missense
KRT13ENSG00000171401ENST00000246635p.L3Lc.9C>TSubstitution - coding silent
SU_CDKL4p.H235fs*27c.696_697insTTInsertion - Frameshift
MMS22LENSG00000146263ENST00000275053p.K924Rc.2771A>GSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.S216Sc.648T>CSubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.S71Sc.213T>CSubstitution - coding silent
DOPEY1ENSG00000083097ENST00000349129p.V1430Ic.4288G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.K912fs*>9c.2733delGDeletion - Frameshift
VNN2ENSG00000112303ENST00000326499p.Y217Fc.650A>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.E899Kc.2695G>ASubstitution - Missense
RSPH4AENSG00000111834ENST00000229554p.P96Lc.287C>TSubstitution - Missense
BAIAP2L2ENSG00000128298ENST00000381669p.R476Hc.1427G>ASubstitution - Missense
IL2RBENSG00000100385ENST00000216223p.P512Pc.1536C>ASubstitution - coding silent
ENST00000352736p.F78Fc.234C>TSubstitution - coding silent
ICAM4ENSG00000105371ENST00000340992p.R218Rc.654G>CSubstitution - coding silent
CDH19ENSG00000071991ENST00000262150p.Q459Ec.1375C>GSubstitution - Missense
ENST00000330758p.T74Ac.220A>GSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.S442Ic.1325G>TSubstitution - Missense
NOP14ENSG00000087269ENST00000314262p.F638Fc.1914C>TSubstitution - coding silent
GPR125ENSG00000152990ENST00000334304p.?c.1606-9C>AUnknown
CASP3ENSG00000164305ENST00000308394p.?c.604+8C>TUnknown
CC2D2AENSG00000048342ENST00000389652p.G45Gc.135C>TSubstitution - coding silent
UCP1ENSG00000109424ENST00000262999p.I130Tc.389T>CSubstitution - Missense
TFDP2ENSG00000114126ENST00000489671p.V6Fc.16G>TSubstitution - Missense
LSG1ENSG00000041802ENST00000265245p.C191Rc.571T>CSubstitution - Missense
RTP1ENSG00000175077ENST00000312295p.H93Hc.279C>TSubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.L596Lc.1788T>GSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.V275Ic.823G>ASubstitution - Missense
POLE3ENSG00000148229ENST00000374169p.N127delNc.379_381delAATDeletion - In frame
PI4KAENSG00000241973ENST00000572273p.G686Gc.2058G>CSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.L417Lc.1251C>GSubstitution - coding silent
STK32BENSG00000152953ENST00000282908p.?c.108+7A>GUnknown
MYCNENSG00000134323ENST00000281043p.T403Tc.1209G>CSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.P927Rc.2780C>GSubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.Q427Qc.1281G>ASubstitution - coding silent
CPAMD8ENSG00000160111ENST00000291440p.T461Tc.1383G>ASubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.N835Nc.2505C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.N829Nc.2487C>TSubstitution - coding silent
CCNFENSG00000162063ENST00000397066p.K89Mc.266A>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.V500Dc.1499T>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.V500Dc.1499T>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.T779Tc.2337G>ASubstitution - coding silent
ENST00000316490p.E4178Gc.12533A>GSubstitution - Missense
ATP6V1C1ENSG00000155097ENST00000395862p.N145Yc.433A>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.?c.413-9A>TUnknown
ENST00000319379p.E3477Kc.10429G>ASubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.Q1131Hc.3393G>CSubstitution - Missense
TESENSG00000135269ENST00000358204p.Y251*c.753T>ASubstitution - Nonsense
ENST00000257721p.Y251*c.753T>ASubstitution - Nonsense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
DPCR1ENSG00000168631ENST00000462446p.A340Vc.1019C>TSubstitution - Missense
ZSCAN31ENSG00000235109ENST00000439158p.G319Rc.955G>CSubstitution - Missense
OR2B2ENSG00000168131ENST00000303324p.R139Rc.417G>ASubstitution - coding silent
TIMD4ENSG00000145850ENST00000274532p.G63Sc.187G>ASubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.L610Fc.1828C>TSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.V592Vc.1776G>ASubstitution - coding silent
MAGEA1ENSG00000198681ENST00000356661p.L115Fc.343C>TSubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.G917Dc.2750G>ASubstitution - Missense
SPDYE1ENSG00000136206ENST00000258704p.S114Sc.342G>ASubstitution - coding silent
ZNF181ENSG00000197841ENST00000392232p.T472Ac.1414A>GSubstitution - Missense
ENST00000319144_v70p.L187Lc.561C>TSubstitution - coding silent
EPN3ENSG00000049283ENST00000537145p.R146Qc.437G>ASubstitution - Missense
PMFBP1ENSG00000118557ENST00000355636p.K694Ec.2080A>GSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.S906Fc.2717C>TSubstitution - Missense
ENST00000256343_v70p.V1000Ic.2998G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.A1027Ac.3081T>CSubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000537245p.Y898Yc.2694C>TSubstitution - coding silent
ENSG00000143674ENST00000366623p.E478Gc.1433A>GSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.P917Lc.2750C>TSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.E737Ec.2211G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000457511p.Q667Qc.2001A>GSubstitution - coding silent
ACTN1ENSG00000072110ENST00000376839p.D35Hc.103G>CSubstitution - Missense
OR1S1ENSG00000172774ENST00000309433p.S117Sc.351T>ASubstitution - coding silent
ENST00000327733p.C55Fc.164G>TSubstitution - Missense
HYOU1ENSG00000149428ENST00000543287p.S485Cc.1454C>GSubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.C159Yc.476G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000322635p.?c.1257-7C>TUnknown
ENST00000454161p.A700Ac.2100G>ASubstitution - coding silent
ENST00000344936_v70p.T626Nc.1877C>ASubstitution - Missense
ENST00000368674p.R172Gc.514A>GSubstitution - Missense
PLECENSG00000178209ENST00000356346p.G3562Gc.10686C>TSubstitution - coding silent
VEGFAENSG00000112715ENST00000372055p.V347Ic.1039G>ASubstitution - Missense
POLR1CENSG00000171453ENST00000304004p.I68Ic.204T>CSubstitution - coding silent
COL11A2ENSG00000204248ENST00000341947p.P1422Lc.4265C>TSubstitution - Missense
TUBB2BENSG00000137285ENST00000259818p.S40Nc.119G>ASubstitution - Missense
HLA-DRAENSG00000204287ENST00000395388p.T145Tc.435G>ASubstitution - coding silent
VARSENSG00000204394ENST00000375663p.G1144Dc.3431G>ASubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.E342Dc.1026G>CSubstitution - Missense
KIF2AENSG00000068796ENST00000407818p.P68Sc.202C>TSubstitution - Missense
SNX18ENSG00000178996ENST00000326277p.D400Ec.1200C>ASubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.H141Hc.423C>TSubstitution - coding silent
ATP6V0E1ENSG00000113732ENST00000519374p.V24Vc.72G>TSubstitution - coding silent
WWC1ENSG00000113645ENST00000265293p.G207Gc.621C>ASubstitution - coding silent
TACC3ENSG00000013810ENST00000313288p.R594Hc.1781G>ASubstitution - Missense
CGB5ENSG00000189052ENST00000301408p.P155Pc.465G>ASubstitution - coding silent
RBMXL3ENSG00000175718ENST00000424776p.G587Rc.1759G>CSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.R679Rc.2037G>ASubstitution - coding silent
TUBAL3ENSG00000178462ENST00000380419p.A390Ec.1169C>ASubstitution - Missense
MCL1ENSG00000143384ENST00000369026p.?c.936+2_937del752Unknown
RBM20ENSG00000203867ENST00000369519p.R982Ic.2945G>TSubstitution - Missense
SMYD3ENSG00000185420ENST00000388985p.D336Gc.1007A>GSubstitution - Missense
OR10Q1ENSG00000180475ENST00000316770p.Y223Yc.669C>TSubstitution - coding silent
OR52R1ENSG00000176937ENST00000380382p.N7Sc.20A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.K6562Kc.19686G>ASubstitution - coding silent
ZNF248ENSG00000198105ENST00000395867p.I60Vc.178A>GSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.G62Gc.186C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000354713p.V223Ic.667G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.G3458Gc.10374C>TSubstitution - coding silent
GRM3ENSG00000198822ENST00000394720p.S325Sc.975C>GSubstitution - coding silent
NRF1ENSG00000106459ENST00000393231p.T51Pc.151A>CSubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.R263Wc.787A>TSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.V1411Ic.4231G>ASubstitution - Missense
USP49ENSG00000164663ENST00000394253p.A228Tc.682G>ASubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.T416Rc.1247C>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.K1390Tc.4169A>CSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.K1385Tc.4154A>CSubstitution - Missense
RTCBENSG00000100220ENST00000451746p.F62Fc.186C>TSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000400028p.P650Lc.1949C>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
NFXL1ENSG00000170448ENST00000329043p.N532Sc.1595A>GSubstitution - Missense
TTLL3ENSG00000214021ENST00000426895p.T637Nc.1910C>ASubstitution - Missense
ENSG00000182329ENST00000541917p.A82Vc.245C>TSubstitution - Missense
GLSENSG00000115419ENST00000338435p.Y530Yc.1590T>CSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000216061p.G833Gc.2499C>TSubstitution - coding silent
MATN4ENSG00000124159ENST00000372754p.V123Mc.367G>ASubstitution - Missense
ID1ENSG00000125968ENST00000376105p.T117Tc.351C>TSubstitution - coding silent
FAM182BENSG00000175170ENST00000376404p.R66Gc.196C>GSubstitution - Missense
TTYH1ENSG00000167614ENST00000391739p.G135Rc.403G>ASubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.P1260Pc.3780G>ASubstitution - coding silent
ZNF274ENSG00000171606ENST00000345813p.R550Kc.1649G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.V1984Lc.5950G>TSubstitution - Missense
CDC34ENSG00000099804ENST00000215574p.Y207Yc.621C>TSubstitution - coding silent
MVDENSG00000167508ENST00000301012p.P101Rc.302C>GSubstitution - Missense
ENST00000356127p.A16833Pc.50497G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G22355Gc.67065T>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.S534Sc.1602C>ASubstitution - coding silent
PDXKENSG00000160209ENST00000291565p.?c.379-9G>AUnknown
TBCDENSG00000141556ENST00000355528p.R169Cc.505C>TSubstitution - Missense
NUDT18ENSG00000173566ENST00000309188p.S280Nc.839G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.K3709Rc.11126A>GSubstitution - Missense
ATL1ENSG00000198513ENST00000358385p.L190Lc.570C>GSubstitution - coding silent
C16orf62ENSG00000103544ENST00000251143p.K209Nc.627A>CSubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.?c.1607+7A>GUnknown
ENST00000426033p.?c.8929-5C>TUnknown
PAPLNENSG00000100767ENST00000427855p.A487Tc.1459G>ASubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.?c.1564-8C>GUnknown
ARHGAP32ENSG00000134909ENST00000310343p.P1393Pc.4179G>ASubstitution - coding silent
LARP4BENSG00000107929ENST00000440895p.N176Sc.526A>GSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.M1253Lc.3757A>TSubstitution - Missense
ETV6ENSG00000139083ENST00000396373p.H141Yc.421C>TSubstitution - Missense
ABCE1ENSG00000164163ENST00000296577p.R425Hc.1274G>ASubstitution - Missense
TTC39BENSG00000155158ENST00000380850p.P467Sc.1399C>TSubstitution - Missense
TNK1ENSG00000174292ENST00000570896p.S632Gc.1894A>GSubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.L596Lc.1788T>GSubstitution - coding silent
CDKL4ENSG00000205111ENST00000378803p.H235fs*27c.696_697insTTInsertion - Frameshift
KIR2DL3ENSG00000243772ENST00000434419p.P135Pc.405G>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.R692Rc.2076G>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.A965Ac.2895T>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000423482p.L1104Lc.3310C>TSubstitution - coding silent
GSDMCENSG00000147697ENST00000276708p.P260Sc.778C>TSubstitution - Missense
NDUFS4ENSG00000164258ENST00000296684p.?c.178-4G>CUnknown
ENST00000316490_v65p.T779Tc.2337G>ASubstitution - coding silent
CTAG2ENSG00000126890ENST00000247306p.P95Lc.284C>TSubstitution - Missense
KPNA2ENSG00000182481ENST00000330459p.A523Tc.1567G>ASubstitution - Missense
RBBP8NLENSG00000130701ENST00000252998p.S519Sc.1557C>TSubstitution - coding silent
ITGAXENSG00000140678ENST00000268296p.R640Qc.1919G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.L462Sc.1385T>CSubstitution - Missense
ENST00000356127p.G28725Gc.86175T>ASubstitution - coding silent
C21orf67ENSG00000183250ENST00000380070p.N18Sc.53A>GSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.Q1430Rc.4289A>GSubstitution - Missense
FZD3ENSG00000104290ENST00000537916p.P136Pc.408A>GSubstitution - coding silent
TEKENSG00000120156ENST00000380036p.D236Dc.708T>CSubstitution - coding silent
SLC33A1ENSG00000169359ENST00000392845p.E401Gc.1202A>GSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.S906Fc.2717C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P9811Lc.29432C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.A10463Pc.31387G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A28726_G28727delAGc.86177_86182delCTGGTGDeletion - In frame
ENST00000357934p.G15Gc.45G>TSubstitution - coding silent
ENSG00000257743ENST00000477922p.A291Ac.873G>ASubstitution - coding silent
DENND6AENSG00000174839ENST00000311128p.I350Ic.1050A>TSubstitution - coding silent
TEKENSG00000120156ENST00000380036p.D236Dc.708T>CSubstitution - coding silent
TTYH1ENSG00000167614ENST00000376530p.G86Rc.256G>ASubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.T551Tc.1653G>ASubstitution - coding silent
EMR1ENSG00000174837ENST00000312053p.T563Ic.1688C>TSubstitution - Missense
CHRNEENSG00000108556ENST00000293780p.C458Cc.1374C>TSubstitution - coding silent
ING1ENSG00000153487ENST00000338450p.P132Sc.394C>TSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.D541Dc.1623T>CSubstitution - coding silent
PRMT8ENSG00000111218ENST00000382622p.H86Hc.258C>TSubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.G723Vc.2168G>TSubstitution - Missense
CLSPNENSG00000092853ENST00000318121p.R1112Qc.3335G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.R358Rc.1072A>CSubstitution - coding silent
MAML2ENSG00000184384ENST00000524717p.L382Lc.1146G>ASubstitution - coding silent
ZP1ENSG00000149506ENST00000278853p.A152Tc.454G>ASubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.L804Lc.2412G>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.K1135Ec.3403A>GSubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.V1364Mc.4090G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.2845-9T>AUnknown
SERPINB2ENSG00000197632ENST00000299502p.R223Hc.668G>ASubstitution - Missense
HDGFL1ENSG00000112273ENST00000230012p.S91Sc.273C>TSubstitution - coding silent
ENST00000371287p.A12Ec.35C>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.P927Rc.2780C>GSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
WRNIP1ENSG00000124535ENST00000380773p.D9Dc.27C>TSubstitution - coding silent
PHIPENSG00000146247ENST00000275034p.A730Vc.2189C>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.?c.2733_2758-3>22Unknown
OBP2BENSG00000171102ENST00000372032p.R47Hc.140G>ASubstitution - Missense
UGCGENSG00000148154ENST00000374279p.I315Mc.945T>GSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.D22Yc.64G>TSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.E339Kc.1015G>ASubstitution - Missense
MAPK9ENSG00000050748ENST00000393360p.E365Kc.1093G>ASubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.P163Qc.488C>ASubstitution - Missense
CCDC135ENSG00000159625ENST00000360716p.R742Qc.2225G>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.862_863ins15Insertion - In frame
ADM2ENSG00000128165ENST00000362068p.R7_T12>Pc.20_34del15Complex - deletion inframe
MCUENSG00000156026ENST00000357157p.S72Pc.214T>CSubstitution - Missense
NM_058004.1p.G686Gc.2058G>CSubstitution - coding silent
ENST00000369268p.A9Ac.27G>ASubstitution - coding silent
ENST00000328088p.T364Ac.1090A>GSubstitution - Missense
KCTD17ENSG00000100379ENST00000403888p.F85Fc.255C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.D680Gc.2039A>GSubstitution - Missense
NM_003985p.S637Gc.1909A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H2109Hc.6327C>TSubstitution - coding silent
DZIP3ENSG00000198919ENST00000361582p.?c.258+7T>CUnknown
GPC1ENSG00000063660ENST00000264039p.L293Lc.879C>TSubstitution - coding silent
PPP6R1ENSG00000105063ENST00000412770p.G108Ac.323G>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.V1481Mc.4441G>ASubstitution - Missense
ENST00000250872p.V1203_S1204insMADVc.3593_3594ins12Insertion - In frame
FSIP2ENSG00000188738ENST00000343098p.Y626Hc.1876T>CSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.Q1155Qc.3465A>GSubstitution - coding silent
ENSG00000170276ENST00000304298p.H110Hc.330C>TSubstitution - coding silent
VASH1ENSG00000071246ENST00000167106p.S350Sc.1050C>TSubstitution - coding silent
ENST00000341258p.E407Ac.1220A>CSubstitution - Missense
FANK1ENSG00000203780ENST00000449042p.R105Cc.313C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.L3816Lc.11446C>TSubstitution - coding silent
NRP1ENSG00000099250ENST00000374816p.I242Sc.725T>GSubstitution - Missense
TDRD3ENSG00000083544ENST00000535286p.F187Vc.559T>GSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.V1984Lc.5950G>TSubstitution - Missense
MEF2DENSG00000116604ENST00000340875p.H304Lc.911A>TSubstitution - Missense
RASSF4ENSG00000107551ENST00000428466p.R36Rc.108A>GSubstitution - coding silent
GARNL3ENSG00000136895ENST00000373387p.G995Rc.2983G>CSubstitution - Missense
TNFRSF21ENSG00000146072ENST00000296861p.T213Ac.637A>GSubstitution - Missense
IL17AENSG00000112115ENST00000340057p.R43Qc.128G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.P927Rc.2780C>GSubstitution - Missense
ZYXENSG00000159840ENST00000322764p.A379Pc.1135G>CSubstitution - Missense
MKS1ENSG00000011143ENST00000337050p.R108Hc.323G>ASubstitution - Missense
TREM2ENSG00000095970ENST00000373113p.M1Ic.3G>ASubstitution - Missense
PPARGENSG00000132170ENST00000287820p.T67Ac.199A>GSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.V266Ec.797T>ASubstitution - Missense
CTAG2ENSG00000126890ENST00000369585p.P95Lc.284C>TSubstitution - Missense
GSAPENSG00000186088ENST00000257626p.A105Vc.314C>TSubstitution - Missense
C9orf89ENSG00000165233ENST00000375464p.G181Vc.542G>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
YRDCENSG00000196449ENST00000373044p.L279Vc.835C>GSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.R692Rc.2076G>ASubstitution - coding silent
NLRP14ENSG00000158077ENST00000299481p.G203Dc.608G>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.I99Ic.297C>ASubstitution - coding silent
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
WIF1ENSG00000156076ENST00000286574p.T360Tc.1080G>ASubstitution - coding silent
RAD51CENSG00000108384ENST00000337432p.R312Wc.934C>TSubstitution - Missense
ENST00000378024_v70p.P3009Pc.9027G>ASubstitution - coding silent
FZR1ENSG00000105325ENST00000395095p.R29Qc.86G>ASubstitution - Missense
GRIK3ENSG00000163873ENST00000373093p.H58Hc.174T>CSubstitution - coding silent
EML3ENSG00000149499ENST00000529309p.H700Hc.2100T>CSubstitution - coding silent
SCAIENSG00000173611ENST00000373549p.T468Tc.1404A>GSubstitution - coding silent
SRBD1ENSG00000068784ENST00000263736p.I285Tc.854T>CSubstitution - Missense
WHSC1ENSG00000109685ENST00000382891p.K361Qc.1081A>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.E899Kc.2695G>ASubstitution - Missense
OGTENSG00000147162ENST00000373719p.K996Rc.2987A>GSubstitution - Missense
PHKA2ENSG00000044446ENST00000379942p.C1095Cc.3285C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.?c.799+1delgUnknown
MUC4ENSG00000145113ENST00000463781p.T1999Tc.5997C>ASubstitution - coding silent
CSHL1ENSG00000204414ENST00000309894p.?c.472-9A>TUnknown
ARHGEF3ENSG00000163947ENST00000296315p.A290Gc.869C>GSubstitution - Missense
NFS1ENSG00000244005ENST00000374092p.M77Ic.231G>TSubstitution - Missense
ING1ENSG00000153487ENST00000333219p.P176Sc.526C>TSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.I828Mc.2484C>GSubstitution - Missense
PLEKHD1ENSG00000175985ENST00000322564p.R209Qc.626G>ASubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.P941Lc.2822C>TSubstitution - Missense
ENST00000310358p.R737Qc.2210G>ASubstitution - Missense
MS4A10ENSG00000172689ENST00000308287p.S225Sc.675C>TSubstitution - coding silent
ENST00000342887p.?c.2346+9G>TUnknown
SDR39U1ENSG00000100445ENST00000399390p.Q175*c.523C>TSubstitution - Nonsense
SU_OBSCN.1p.L3686Lc.11056C>TSubstitution - coding silent
ZFAND4ENSG00000172671ENST00000344646p.Q302Lc.905A>TSubstitution - Missense
NRP1ENSG00000099250ENST00000374823p.I242Sc.725T>GSubstitution - Missense
ENST00000405167p.P1074Sc.3220C>TSubstitution - Missense
POP4ENSG00000105171ENST00000221770p.T39Mc.116C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000237353p.K839Ec.2515A>GSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.K89Mc.266A>TSubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.G160Sc.478G>ASubstitution - Missense
MAKENSG00000111837ENST00000313243p.K377Rc.1130A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.K1400Tc.4199A>CSubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.D459Yc.1375G>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.S2307Fc.6920C>TSubstitution - Missense
FAM120BENSG00000112584ENST00000476287p.T393Rc.1178C>GSubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.Y400Nc.1198T>ASubstitution - Missense
PSMB3ENSG00000108294ENST00000225426p.L200Lc.598C>TSubstitution - coding silent
FAM208AENSG00000163946ENST00000431842p.N589Sc.1766A>GSubstitution - Missense
MELKENSG00000165304ENST00000298048p.D150Vc.449A>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.?c.2132-7C>TUnknown
TNFRSF9ENSG00000049249ENST00000377507p.R130Cc.388C>TSubstitution - Missense
SLC1A3ENSG00000079215ENST00000265113p.R342Qc.1025G>ASubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.?c.667-6C>TUnknown
RNASE8ENSG00000173431ENST00000308227p.H97Hc.291C>TSubstitution - coding silent
NTRK3ENSG00000140538ENST00000317501p.L134Lc.402G>CSubstitution - coding silent
OR8B4ENSG00000198657ENST00000356130p.V214Ic.640G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000322680p.?c.1344-7C>TUnknown
KIAA1462ENSG00000165757ENST00000375377p.H684Yc.2050C>TSubstitution - Missense
WIF1ENSG00000156076ENST00000286574p.T360Tc.1080G>ASubstitution - coding silent
ENST00000263281_v70p.C46Sc.137G>CSubstitution - Missense
RANBP9ENSG00000010017ENST00000011619p.?c.1795+10G>TUnknown
ZNF181ENSG00000197841ENST00000492450p.T428Ac.1282A>GSubstitution - Missense
MAP1SENSG00000130479ENST00000324096p.R103Rc.309G>CSubstitution - coding silent
A4GNTENSG00000118017ENST00000236709p.S150Lc.449C>TSubstitution - Missense
PGLYRP1ENSG00000008438ENST00000008938p.N37Kc.111C>ASubstitution - Missense
XM_051221.5p.S302Lc.905C>TSubstitution - Missense
RSBN1LENSG00000187257ENST00000334955p.R34Rc.100C>ASubstitution - coding silent
TXLNGENSG00000086712ENST00000380122p.K189Kc.567A>GSubstitution - coding silent
IQCEENSG00000106012ENST00000402050p.?c.1609-6T>GUnknown
GLB1ENSG00000170266ENST00000307363p.D35Gc.104A>GSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.N644Sc.1931A>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.L462Sc.1385T>CSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.A766Tc.2296G>ASubstitution - Missense
ALOX12BENSG00000179477ENST00000319144p.L187Lc.561C>TSubstitution - coding silent
DDX11ENSG00000013573ENST00000407793p.H836Rc.2507A>GSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.S2808Lc.8423C>TSubstitution - Missense
TAF6LENSG00000162227ENST00000294168p.R105Qc.314G>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.L134Lc.402G>CSubstitution - coding silent
MEF2DENSG00000116604ENST00000348159p.H305Lc.914A>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.P1044Pc.3132G>ASubstitution - coding silent
ANKRD1ENSG00000148677ENST00000371697p.?c.207+1G>CUnknown
PARP1ENSG00000143799ENST00000366794p.V762Vc.2286G>ASubstitution - coding silent
ATP2A3ENSG00000074370ENST00000352011p.V146Ic.436G>ASubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372195p.L528Lc.1584G>ASubstitution - coding silent
EXOC7ENSG00000182473ENST00000335146p.P676Pc.2028A>GSubstitution - coding silent
CD8AENSG00000153563ENST00000538832p.A121Tc.361G>ASubstitution - Missense
SNX18ENSG00000178996ENST00000381410p.D400Ec.1200C>ASubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.Q276Lc.827A>TSubstitution - Missense
ENST00000316490p.T779Tc.2337G>ASubstitution - coding silent
SGK2ENSG00000101049ENST00000341458p.I131Vc.391A>GSubstitution - Missense
ZNF285ENSG00000267508ENST00000330997p.T423Tc.1269A>GSubstitution - coding silent
FZR1ENSG00000105325ENST00000441788p.R29Qc.86G>ASubstitution - Missense
ADM2ENSG00000128165ENST00000395737p.G91_H95delGPRRHc.270_284del15Deletion - In frame
TREM2ENSG00000095970ENST00000338469p.M1Ic.3G>ASubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.D1063Vc.3188A>TSubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.P997Pc.2991C>TSubstitution - coding silent
ENSG00000228259ENST00000425471p.G223Gc.669C>TSubstitution - coding silent
GPR56ENSG00000205336ENST00000379696p.?c.1952-4G>AUnknown
ENST00000405167p.V1203Lc.3607G>CSubstitution - Missense
MFSD3ENSG00000167700ENST00000301327p.G378Rc.1132G>ASubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.I46Tc.137T>CSubstitution - Missense
LDLRENSG00000130164ENST00000558518p.G218Gc.654T>GSubstitution - coding silent
ENST00000375206p.Q1375Rc.4124A>GSubstitution - Missense
NUDT18ENSG00000173566ENST00000309188p.G126Cc.376G>TSubstitution - Missense
ENST00000318252p.D2811Dc.8433C>TSubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.Q347Qc.1041G>ASubstitution - coding silent
LRRIQ3ENSG00000162620ENST00000395089p.T123Tc.369C>TSubstitution - coding silent
THAP3ENSG00000041988ENST00000377627p.S99Rc.297T>GSubstitution - Missense
BTBD7ENSG00000011114ENST00000298896p.N99Sc.296A>GSubstitution - Missense
DCDC1ENSG00000170959ENST00000339794p.E175Kc.523G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.G1901Rc.5701G>ASubstitution - Missense
OR56B3PENSG00000180913ENST00000316517p.Q100Kc.298C>ASubstitution - Missense
CHST15ENSG00000182022ENST00000421115p.E278Ec.834G>ASubstitution - coding silent
ANKRD30AENSG00000148513ENST00000602533p.A343Tc.1027G>ASubstitution - Missense
ARSJENSG00000180801ENST00000315366p.E280Kc.838G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.S781Lc.2342C>TSubstitution - Missense
AQP7ENSG00000165269ENST00000539936p.F76Fc.228C>TSubstitution - coding silent
SUSD1ENSG00000106868ENST00000374270p.H137Qc.411T>GSubstitution - Missense
GIPRENSG00000010310ENST00000263281p.C46Sc.137G>CSubstitution - Missense
BCAMENSG00000187244ENST00000270233p.R191Cc.571C>TSubstitution - Missense
NUP85ENSG00000125450ENST00000245544p.R238Gc.712A>GSubstitution - Missense
NUP85ENSG00000125450ENST00000447371p.R70Gc.208A>GSubstitution - Missense
ENST00000405167p.T1999Tc.5997C>ASubstitution - coding silent
CLIP4ENSG00000115295ENST00000320081p.S55Tc.163T>ASubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.Y689Yc.2067C>TSubstitution - coding silent
ID1ENSG00000125968ENST00000376112p.T117Tc.351C>TSubstitution - coding silent
CPNE2ENSG00000140848ENST00000290776p.G302Gc.906A>TSubstitution - coding silent
CSHL1ENSG00000204414ENST00000561003p.H156Lc.467A>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.M1Vc.1A>GSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.E486Kc.1456G>ASubstitution - Missense
NXPE1ENSG00000095110ENST00000251921p.H42Yc.124C>TSubstitution - Missense
KCNA10ENSG00000143105ENST00000369771p.N85Kc.255C>GSubstitution - Missense
ENST00000426033p.A691Ac.2073G>ASubstitution - coding silent
OVOL1ENSG00000172818ENST00000335987p.R102Hc.305G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000541946p.S232Lc.695C>TSubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.S262Sc.786C>GSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000537465p.K844Ec.2530A>GSubstitution - Missense
GPR125ENSG00000152990ENST00000508133p.?c.928-9C>AUnknown
C10orf90ENSG00000154493ENST00000544758p.R316Gc.946A>GSubstitution - Missense
ENST00000229606p.R238Wc.712A>TSubstitution - Missense
GPR151ENSG00000173250ENST00000311104p.E387Qc.1159G>CSubstitution - Missense
WHSC1ENSG00000109685ENST00000503128p.K361Qc.1081A>CSubstitution - Missense
APOL5ENSG00000128313ENST00000249044p.R30*c.88C>TSubstitution - Nonsense
BRD1ENSG00000100425ENST00000216267p.A147Ac.441C>TSubstitution - coding silent
KLHL30ENSG00000168427ENST00000409223p.E68Kc.202G>ASubstitution - Missense
GLB1ENSG00000170266ENST00000445488p.D83Gc.248A>GSubstitution - Missense
LILRB5ENSG00000105609ENST00000316219p.?c.1574-9G>TUnknown
IRAK2ENSG00000134070ENST00000256458p.G445Ac.1334G>CSubstitution - Missense
FAM182BENSG00000175170ENST00000376403p.R69Gc.205C>GSubstitution - Missense
PLECENSG00000178209ENST00000354958p.G3450Gc.10350C>TSubstitution - coding silent
SOWAHBENSG00000186212ENST00000334306p.P363Sc.1087C>TSubstitution - Missense
NM_032217.3p.A1860Sc.5578G>TSubstitution - Missense
HELZENSG00000198265ENST00000358691p.T516Tc.1548A>GSubstitution - coding silent
TMPRSS9ENSG00000178297ENST00000332578p.A434Ac.1302C>TSubstitution - coding silent
COL4A6ENSG00000197565ENST00000394872p.?c.2135-7C>TUnknown
PHYKPLENSG00000175309ENST00000308158p.H141Hc.423C>TSubstitution - coding silent
MRPS18AENSG00000096080ENST00000427312p.P152Sc.454C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.A1393Ac.4179C>ASubstitution - coding silent
POLR1CENSG00000171453ENST00000372389p.I68Ic.204T>CSubstitution - coding silent
FAM129CENSG00000167483ENST00000335393p.T492Tc.1476G>ASubstitution - coding silent
ZNF546ENSG00000187187ENST00000347077p.M248Tc.743T>CSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.E3532Kc.10594G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.?c.413-9A>TUnknown
TAAR6ENSG00000146383ENST00000275198p.A282Ac.846C>TSubstitution - coding silent
ENST00000372191p.L206Lc.618G>ASubstitution - coding silent
ENST00000326605p.T39Tc.117G>ASubstitution - coding silent
NM_001184p.F1522Lc.4566C>GSubstitution - Missense
TFR2ENSG00000106327ENST00000223051p.N402Kc.1206C>ASubstitution - Missense
VRK2ENSG00000028116ENST00000435505p.E465fs*17c.1387_1388insACTTInsertion - Frameshift
USP34ENSG00000115464ENST00000398571p.L675Pc.2024T>CSubstitution - Missense
ARMC9ENSG00000135931ENST00000349938p.S508Sc.1524G>TSubstitution - coding silent
TMEM232ENSG00000186952ENST00000429839p.?c.1027-3C>TUnknown
CCDC106ENSG00000173581ENST00000308964p.S5Sc.15C>TSubstitution - coding silent
WDR53ENSG00000185798ENST00000332629p.R47Qc.140G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.L1346Pc.4037T>CSubstitution - Missense
HTN1ENSG00000126550ENST00000246896p.?c.72+6A>CUnknown
CEP250ENSG00000126001ENST00000397527p.R750Rc.2250T>GSubstitution - coding silent
GLSENSG00000115419ENST00000320717p.Y530Yc.1590T>CSubstitution - coding silent
EPN3ENSG00000049283ENST00000268933p.R91Qc.272G>ASubstitution - Missense
PRMT8ENSG00000111218ENST00000452611p.H77Hc.231C>TSubstitution - coding silent
ZC3H11AENSG00000058673ENST00000367210p.L804Lc.2412A>GSubstitution - coding silent
ITGA10ENSG00000143127ENST00000369304p.S1041Sc.3123C>TSubstitution - coding silent
AMOTL1ENSG00000166025ENST00000433060p.W825*c.2474G>ASubstitution - Nonsense
ARHGEF17ENSG00000110237ENST00000263674p.L571Fc.1711C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.L3915Lc.11743C>TSubstitution - coding silent
OR4B1ENSG00000175619ENST00000309562p.L280Lc.838C>TSubstitution - coding silent
ARHGAP12ENSG00000165322ENST00000344936p.T626Nc.1877C>ASubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.R732Cc.2194C>TSubstitution - Missense
ENST00000431552p.Y350Yc.1050T>CSubstitution - coding silent
USP31ENSG00000103404ENST00000219689p.P1136Lc.3407C>TSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.T806Tc.2418G>ASubstitution - coding silent
UBXN6ENSG00000167671ENST00000301281p.Y240Yc.720C>TSubstitution - coding silent
MCCC1ENSG00000078070ENST00000265594p.S688Fc.2063C>TSubstitution - Missense
MPLENSG00000117400ENST00000372470p.I570Ic.1710C>TSubstitution - coding silent
LTBP3ENSG00000168056ENST00000322147p.I837Tc.2510T>CSubstitution - Missense
NM_004667.3p.S2023Nc.6068G>ASubstitution - Missense
CLSPNENSG00000092853ENST00000251195p.R1112Qc.3335G>ASubstitution - Missense
SMYD3ENSG00000185420ENST00000541742p.D277Gc.830A>GSubstitution - Missense
XM_370575.3p.N84Sc.251A>GSubstitution - Missense
AF282265.1p.?c.1173+10C>TUnknown
ENST00000316540p.A143Vc.428C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.T2771Ac.8311A>GSubstitution - Missense
TMEM225ENSG00000204300ENST00000375026p.R67Kc.200G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000369056p.L552fs*11c.1655_1665del11Deletion - Frameshift
SH3PXD2BENSG00000174705ENST00000311601p.P911Pc.2733G>ASubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.A1393Ac.4179C>ASubstitution - coding silent
ZNF227ENSG00000131115ENST00000313040p.L42Vc.124C>GSubstitution - Missense
ZNF280BENSG00000198477ENST00000360412p.P299Lc.896C>TSubstitution - Missense
ENST00000316490_v65p.E4226Gc.12677A>GSubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.P575Pc.1725C>TSubstitution - coding silent
CRTC1ENSG00000105662ENST00000338797p.T641Tc.1923C>GSubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.S302Lc.905C>TSubstitution - Missense
PLGENSG00000122194ENST00000308192p.E54Kc.160G>ASubstitution - Missense
ADH5ENSG00000197894ENST00000296412p.?c.961+2_962del2202Unknown
IRAK2ENSG00000134070ENST00000256458p.G445Ac.1334G>CSubstitution - Missense
RBM48ENSG00000127993ENST00000265732p.S325Sc.975A>GSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.G3609Gc.10827C>TSubstitution - coding silent
PDS5AENSG00000121892ENST00000303538p.D111Nc.331G>ASubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.H650Qc.1950C>GSubstitution - Missense
FANCMENSG00000187790ENST00000267430p.H747Rc.2240A>GSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.R2015Tc.6044G>CSubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.T93Tc.279A>GSubstitution - coding silent
WDR64ENSG00000162843ENST00000366552p.E854Ac.2561A>CSubstitution - Missense
RBM14ENSG00000239306ENST00000310137p.S490Ac.1468T>GSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.K100Kc.300G>ASubstitution - coding silent
NRP1ENSG00000099250ENST00000265371p.I242Sc.725T>GSubstitution - Missense
ATP2A2ENSG00000174437ENST00000539276p.A303Dc.908C>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.G3472Gc.10416C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000441350p.?c.413-9A>TUnknown
KIF6ENSG00000164627ENST00000538893p.S725Lc.2174C>TSubstitution - Missense
ICAM4ENSG00000105371ENST00000380770p.G244Ac.731G>CSubstitution - Missense
C16orf62ENSG00000103544ENST00000448695p.K87Nc.261A>CSubstitution - Missense
SDR39U1ENSG00000100445ENST00000399395p.Q270*c.808C>TSubstitution - Nonsense
OR51J1ENSG00000184321ENST00000332043p.I305Tc.914T>CSubstitution - Missense
ASTN2ENSG00000148219ENST00000288520p.G349Gc.1047C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361209p.G181Rc.541G>ASubstitution - Missense
ADH5ENSG00000197894ENST00000296412p.?c.825+1_826-1del1242Unknown
ZNF274ENSG00000171606ENST00000326804p.R582Kc.1745G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.V1481Mc.4441G>ASubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.I265Ic.795C>TSubstitution - coding silent
KIR2DL3ENSG00000243772ENST00000342376p.P135Pc.405G>ASubstitution - coding silent
ENST00000344049p.G108Gc.324G>ASubstitution - coding silent
ATG4CENSG00000125703ENST00000317868p.?c.394+2T>CUnknown
ZNF280DENSG00000137871ENST00000267807p.?c.2315+6T>CUnknown
NM_006312.2p.L1621Lc.4863G>CSubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.A460Tc.1378G>ASubstitution - Missense
CSTF2TENSG00000177613ENST00000331173p.P234Lc.701C>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.D945Vc.2834A>TSubstitution - Missense
EML3ENSG00000149499ENST00000394773p.H700Hc.2100T>CSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
SLITRK5ENSG00000165300ENST00000325089p.P891Lc.2672C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T4819Nc.14456C>ASubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.Y118Hc.352T>CSubstitution - Missense
MATN4ENSG00000124159ENST00000372756p.V123Mc.367G>ASubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.K830Rc.2489A>GSubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.Q629Qc.1887G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
OBP2BENSG00000171102ENST00000372034p.A92Tc.274G>ASubstitution - Missense
FNIP1ENSG00000217128ENST00000510461p.T797Tc.2391T>CSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.G3554Gc.10662C>TSubstitution - coding silent
PDS5AENSG00000121892ENST00000503396p.D111Nc.331G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.Q473Kc.1417C>ASubstitution - Missense
EXOC7ENSG00000182473ENST00000357231p.P625Pc.1875A>GSubstitution - coding silent
INPP1ENSG00000151689ENST00000392329p.A21Ac.63G>ASubstitution - coding silent
PLEKHM1ENSG00000225190ENST00000430334p.?c.1580-9T>CUnknown
VPS13CENSG00000129003ENST00000395896p.K434Qc.1300A>CSubstitution - Missense
PKP2ENSG00000057294ENST00000070846p.V200Vc.600G>ASubstitution - coding silent
CTDP1ENSG00000060069ENST00000299543p.E418Qc.1252G>CSubstitution - Missense
ENST00000310276p.D900Vc.2699A>TSubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.?c.577-9C>AUnknown
TRNT1ENSG00000072756ENST00000251607p.P270_A271insKLc.810_811insAAACTTInsertion - In frame
ZNF304ENSG00000131845ENST00000282286p.H306Qc.918C>GSubstitution - Missense
ENST00000405167p.A2112Tc.6334G>ASubstitution - Missense
NRBP1ENSG00000115216ENST00000233557p.S2Sc.6G>ASubstitution - coding silent
RTCBENSG00000100220ENST00000216038p.F62Fc.186C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G28727Gc.86181T>ASubstitution - coding silent
NM_003895.2p.Y361Nc.1081T>ASubstitution - Missense
DHRS7BENSG00000109016ENST00000395511p.A191Tc.571G>ASubstitution - Missense
SLC18A1ENSG00000036565ENST00000276373p.T508Tc.1524G>ASubstitution - coding silent
NRF1ENSG00000106459ENST00000223190p.T51Pc.151A>CSubstitution - Missense
SYT3ENSG00000213023ENST00000338916p.G277Gc.831G>TSubstitution - coding silent
CT47B1ENSG00000236446ENST00000371311p.M45Vc.133A>GSubstitution - Missense
ENST00000248272p.I532Sc.1595T>GSubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.S99Lc.296C>TSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000313695p.E708Ec.2124G>ASubstitution - coding silent
NXPE1ENSG00000095110ENST00000424269p.H184Yc.550C>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000357555p.L462fs*11c.1385_1395del11Deletion - Frameshift
DMBT1ENSG00000187908ENST00000368909p.V725Vc.2175A>CSubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.S447Sc.1341C>GSubstitution - coding silent
SMYD2ENSG00000143499ENST00000366957p.A399Ac.1197C>TSubstitution - coding silent
NOP14ENSG00000087269ENST00000398071p.F638Fc.1914C>TSubstitution - coding silent
FAM129CENSG00000167483ENST00000595684p.T492Tc.1476G>ASubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000535355p.Y888Yc.2664C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.G3576Gc.10728C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361477p.G300Gc.900C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.G1248Gc.3744C>TSubstitution - coding silent
GPR110ENSG00000153292ENST00000371253p.S523fs*32c.1567_1568insTInsertion - Frameshift
ENST00000373990p.S434Nc.1301G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000332386p.T492Tc.1476G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
CNTNAP2ENSG00000174469ENST00000361727p.R389Rc.1167G>CSubstitution - coding silent
ANKFY1ENSG00000185722ENST00000574367p.P722Pc.2166T>CSubstitution - coding silent
CC2D2AENSG00000048342ENST00000424120p.G94Gc.282C>TSubstitution - coding silent
OGTENSG00000147162ENST00000373701p.K986Rc.2957A>GSubstitution - Missense
ZKSCAN2ENSG00000155592ENST00000328086p.R190Wc.568C>TSubstitution - Missense
NAT16ENSG00000167011ENST00000300303p.S42_G71>Wc.125_211del87Complex - deletion inframe
CTAG2ENSG00000126890ENST00000247306p.P95Lc.284C>TSubstitution - Missense
HOXA2ENSG00000105996ENST00000222718p.Q201*c.601C>TSubstitution - Nonsense
NMBRENSG00000135577ENST00000258042p.M1Rc.2T>GSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.E736Ec.2208G>ASubstitution - coding silent
NBEAENSG00000172915ENST00000400445p.R2015Tc.6044G>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.K649Qc.1945A>CSubstitution - Missense
ENST00000229606p.S237Sc.711C>GSubstitution - coding silent
JOSD1ENSG00000100221ENST00000216039p.N114Nc.342C>TSubstitution - coding silent
ELL2ENSG00000118985ENST00000237853p.S359Fc.1076C>TSubstitution - Missense
CLSTN2ENSG00000158258ENST00000458420p.E672Kc.2014G>ASubstitution - Missense
GYS1ENSG00000104812ENST00000323798p.D340Dc.1020C>TSubstitution - coding silent
TREM2ENSG00000095970ENST00000373122p.M1Ic.3G>ASubstitution - Missense
MAPK9ENSG00000050748ENST00000452135p.E365Kc.1093G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.N2669Kc.8007C>GSubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.D551Nc.1651G>ASubstitution - Missense
SLC6A11ENSG00000132164ENST00000254488p.Q184Rc.551A>GSubstitution - Missense
RNPEPL1ENSG00000142327ENST00000270357p.?c.709-3C>TUnknown
ENST00000356127p.P9811Lc.29432C>TSubstitution - Missense
NM_003319p.A10338Pc.31012G>CSubstitution - Missense
NM_003319p.A22229_G22230delAGc.66686_66691delCTGGTGDeletion - In frame
ENSG00000257743ENST00000477922p.E1352Gc.4055A>GSubstitution - Missense
SLC26A7ENSG00000147606ENST00000309536p.A307Vc.920C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.M1Vc.1A>GSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.L1227Lc.3681C>TSubstitution - coding silent
MROH2BENSG00000171495ENST00000399564p.I1070Vc.3208A>GSubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.M838Vc.2512A>GSubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.L812Lc.2436A>GSubstitution - coding silent
HMGCLENSG00000117305ENST00000374490p.D151Ec.453C>ASubstitution - Missense
INCENPENSG00000149503ENST00000394818p.?c.1173+10C>TUnknown
ENST00000368915p.V725Vc.2175A>CSubstitution - coding silent
UROSENSG00000188690ENST00000368786p.Q249*c.745C>TSubstitution - Nonsense
PLEKHH1ENSG00000054690ENST00000329153p.R673Qc.2018G>ASubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.R732Cc.2194C>TSubstitution - Missense
SLC7A10ENSG00000130876ENST00000253188p.C508Yc.1523G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000379507p.F75Fc.225C>TSubstitution - coding silent
FAM129CENSG00000167483ENST00000300971p.T492Tc.1476G>ASubstitution - coding silent
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361209p.G1197Gc.3591C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.G181Rc.541G>ASubstitution - Missense
NM_004520.1p.P41Sc.121C>TSubstitution - Missense
PSG9ENSG00000183668ENST00000270077p.Q383Qc.1149A>GSubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.V24Ic.70G>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.M703Lc.2107A>CSubstitution - 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