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YAPC - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

710 mutations reported
290 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
FBXO8ENSG00000164117ENST00000393674p.W182*c.545G>ASubstitution - Nonsense
VEGFBENSG00000173511ENST00000426086p.?c.410+9T>CUnknown
DENND3ENSG00000105339ENST00000262585p.Y851Yc.2553C>TSubstitution - coding silent
CBWD1ENSG00000172785ENST00000356521p.N363Ic.1088A>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.R382Rc.1146G>ASubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.I217Sc.650T>GSubstitution - Missense
EFCAB3ENSG00000172421ENST00000305286p.N339Kc.1017T>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.?c.3043+6T>CUnknown
NCLNENSG00000125912ENST00000246117p.P142Pc.426C>TSubstitution - coding silent
DCCENSG00000187323ENST00000442544p.T610Nc.1829C>ASubstitution - Missense
GCNT2ENSG00000111846ENST00000379597p.H256Pc.767A>CSubstitution - Missense
TRAF3IP2ENSG00000056972ENST00000368761p.G172Gc.516C>ASubstitution - coding silent
KIAA1919ENSG00000173214ENST00000368847p.I395Vc.1183A>GSubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.I1015Vc.3043A>GSubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.G417Vc.1250G>TSubstitution - Missense
INF2ENSG00000203485ENST00000252527p.G409Gc.1227C>TSubstitution - coding silent
C1QCENSG00000159189ENST00000374637p.R184Cc.550C>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.Q586Qc.1758A>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.S296Tc.887G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3040Pc.9120G>ASubstitution - coding silent
MEPCEENSG00000146834ENST00000310512p.L541Lc.1623G>ASubstitution - coding silent
RPS4Y2ENSG00000157828ENST00000288666p.K128Mc.383A>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.R921Rc.2763G>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.S2917Sc.8751G>ASubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.R1090Hc.3269G>ASubstitution - Missense
BCRENSG00000186716ENST00000305877p.S459Lc.1376C>TSubstitution - Missense
OR52A1ENSG00000182070ENST00000380367p.I128Vc.382A>GSubstitution - Missense
NMNAT3ENSG00000163864ENST00000413939p.Q65Rc.194A>GSubstitution - Missense
ECE1ENSG00000117298ENST00000357071p.E446Ec.1338G>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.T1849Ac.5545A>GSubstitution - Missense
MRPL23ENSG00000214026ENST00000381519p.?c.419_462del44Unknown
CACNA1HENSG00000196557ENST00000358590p.R1157Hc.3470G>ASubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.Q698Rc.2093A>GSubstitution - Missense
NUTM2GENSG00000188152ENST00000354649p.N174Nc.522C>TSubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.I475Ic.1425C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2994Lc.8981C>TSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.A391Vc.1172C>TSubstitution - Missense
PTPN4ENSG00000088179ENST00000263708p.?c.1981-1delgUnknown
ENST00000381114p.S385Nc.1154G>ASubstitution - Missense
RBFOX2ENSG00000100320ENST00000405409p.?c.27+5_27+6delgaUnknown
MICBENSG00000204516ENST00000252229p.G44Ec.131G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.A159Ac.477C>TSubstitution - coding silent
L3MBTL3ENSG00000198945ENST00000368136p.K101Rc.302A>GSubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.C314Cc.942C>TSubstitution - coding silent
C5ENSG00000106804ENST00000223642p.A286Ac.858A>CSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.F3808Sc.11423T>CSubstitution - Missense
MYOM3ENSG00000142661ENST00000329601p.R527Wc.1579C>TSubstitution - Missense
MYOFENSG00000138119ENST00000371501p.R1072Hc.3215G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.Q1440Hc.4320G>CSubstitution - Missense
MERTKENSG00000153208ENST00000295408p.P252Pc.756A>CSubstitution - coding silent
SAMD11ENSG00000187634ENST00000342066p.P628Lc.1883C>TSubstitution - Missense
KCTD3ENSG00000136636ENST00000259154p.K432Kc.1296G>ASubstitution - coding silent
NALCNENSG00000102452ENST00000251127p.?c.644+8T>GUnknown
IQSEC3ENSG00000120645ENST00000382841p.L208Rc.623T>GSubstitution - Missense
ENST00000422365_v68p.L90Lc.268T>CSubstitution - coding silent
ENST00000319682p.M1Tc.2T>CSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.I645Mc.1935A>GSubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.?c.993+5G>AUnknown
SPIRE2ENSG00000204991ENST00000378247p.R251Qc.752G>ASubstitution - Missense
TENSG00000164458ENST00000296946p.V110Vc.330G>ASubstitution - coding silent
CCDC22ENSG00000101997ENST00000376227p.D551Nc.1651G>ASubstitution - Missense
ENST00000405167p.P2994Lc.8981C>TSubstitution - Missense
ENST00000381114p.S385Nc.1154G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.D720Nc.2158G>ASubstitution - Missense
NM_001198.2p.Y356Yc.1068C>TSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.P725Pc.2175C>TSubstitution - coding silent
FSCN1ENSG00000075618ENST00000382361p.?c.989+7G>AUnknown
ENST00000229606p.S237Sc.711C>GSubstitution - coding silent
KCNK10ENSG00000100433ENST00000340700p.E483Kc.1447G>ASubstitution - Missense
ELAVL1ENSG00000066044ENST00000351593p.A104Ac.312G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.L722Pc.2165T>CSubstitution - Missense
SMAD4ENSG00000141646ENST00000342988p.R515fs*22c.1542delADeletion - Frameshift
ANO7ENSG00000146205ENST00000274979p.?c.716+7C>TUnknown
AFTPHENSG00000119844ENST00000238856p.Q351Pc.1052A>CSubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.R198Wc.592C>TSubstitution - Missense
OMGENSG00000126861ENST00000247271p.G360Rc.1078G>ASubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.G49Vc.146G>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.D4347Dc.13041C>TSubstitution - coding silent
USP47ENSG00000170242ENST00000399455p.P412Pc.1236C>TSubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.I217Sc.650T>GSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.T155Tc.465G>ASubstitution - coding silent
BRICD5ENSG00000182685ENST00000562360p.R135Wc.403C>TSubstitution - Missense
NMBENSG00000197696ENST00000360476p.?c.331-8C>TUnknown
NFE2ENSG00000123405ENST00000312156p.N303Sc.908A>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.T2134Sc.6401C>GSubstitution - Missense
C1orf189ENSG00000163263ENST00000368525p.H75fs*15c.222delGDeletion - Frameshift
TBC1D8BENSG00000133138ENST00000357242p.R370Hc.1109G>ASubstitution - Missense
POLR3FENSG00000132664ENST00000377603p.E3Ac.8A>CSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.S350Sc.1050G>ASubstitution - coding silent
KRTAP10-7ENSG00000205441ENST00000380102p.C161Cc.483T>CSubstitution - coding silent
RWDD2BENSG00000156253ENST00000493196p.P112Lc.335C>TSubstitution - Missense
FGFRL1ENSG00000127418ENST00000398484p.F260Fc.780C>TSubstitution - coding silent
PRSS36ENSG00000178226ENST00000268281p.H585Hc.1755T>CSubstitution - coding silent
MAPK9ENSG00000050748ENST00000425491p.K68Nc.204G>CSubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.L227Pc.680T>CSubstitution - Missense
SMARCC1ENSG00000173473ENST00000254480p.?c.1900-9C>TUnknown
UNC13AENSG00000130477ENST00000519716p.?c.270+10G>AUnknown
FCGBPENSG00000090920ENST00000221347p.Y4274Yc.12822C>TSubstitution - coding silent
ENST00000204005_v70p.T750Tc.2250T>ASubstitution - coding silent
NM_025228.1p.N528Nc.1584C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.E4026Kc.12076G>ASubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.P1070Pc.3210C>TSubstitution - coding silent
FAM149B1ENSG00000138286ENST00000242505p.?c.1127+10T>GUnknown
TLE3ENSG00000140332ENST00000558939p.P341Qc.1022C>ASubstitution - Missense
TUBENSG00000166402ENST00000305253p.?c.730+2T>GUnknown
SLC25A23ENSG00000125648ENST00000334510p.T414Tc.1242G>ASubstitution - coding silent
CRYGCENSG00000163254ENST00000282141p.R77Cc.229C>TSubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.V848Vc.2544G>TSubstitution - coding silent
MAGI1ENSG00000151276ENST00000402939p.E737Ac.2210A>CSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.Q1480Pc.4439A>CSubstitution - Missense
ENST00000420871_v68p.G953Gc.2859G>ASubstitution - coding silent
C16orf90ENSG00000215131ENST00000437192p.P42Lc.125C>TSubstitution - Missense
AFTPHENSG00000119844ENST00000238855p.Q351Pc.1052A>CSubstitution - Missense
STK31ENSG00000196335ENST00000355870p.?c.2637+9T>GUnknown
KIAA1109ENSG00000138688ENST00000264501p.T4239Tc.12717G>ASubstitution - coding silent
PRDM1ENSG00000057657ENST00000369096p.Y392Yc.1176C>TSubstitution - coding silent
SLC9B1P1ENSG00000183704ENST00000331172p.K96Nc.288A>CSubstitution - Missense
GIPRENSG00000010310ENST00000263281p.?c.489-6C>AUnknown
GPR160ENSG00000173890ENST00000355897p.P111Lc.332C>TSubstitution - Missense
C9orf9ENSG00000165698ENST00000350499p.S59Gc.175A>GSubstitution - Missense
GPSM1ENSG00000160360ENST00000392945p.D123Nc.367G>ASubstitution - Missense
MFSD7ENSG00000169026ENST00000322224p.T399Tc.1197T>GSubstitution - coding silent
GSTK1ENSG00000197448ENST00000358406p.G192Dc.575G>ASubstitution - Missense
GRHL2ENSG00000083307ENST00000251808p.Y352Hc.1054T>CSubstitution - Missense
GPR115ENSG00000153294ENST00000327753p.V430Mc.1288G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.S247Sc.741C>TSubstitution - coding silent
ENSG00000117600ENST00000370184p.R500Hc.1499G>ASubstitution - Missense
ZC3H13ENSG00000123200ENST00000242848p.R1343Qc.4028G>ASubstitution - Missense
NALCNENSG00000102452ENST00000376196p.?c.644+8T>GUnknown
DCAF6ENSG00000143164ENST00000367843p.T382Ac.1144A>GSubstitution - Missense
VEGFBENSG00000173511ENST00000309422p.?c.410+9T>CUnknown
ENST00000339762_v65p.V307Lc.919G>CSubstitution - Missense
VEGFBENSG00000173511ENST00000426086p.C161_R162delCRc.470_475delGCCGCTDeletion - In frame
CACNA1HENSG00000196557ENST00000348261p.R1157Hc.3470G>ASubstitution - Missense
SLC25A3ENSG00000075415ENST00000188376p.A47Vc.140C>TSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.H308Pc.923A>CSubstitution - Missense
FOXG1ENSG00000176165ENST00000382535p.S393Lc.1178C>TSubstitution - Missense
NM_004667.3p.D1826Ac.5477A>CSubstitution - Missense
ACSM1ENSG00000166743ENST00000307493p.E437Kc.1309G>ASubstitution - Missense
SPG21ENSG00000090487ENST00000204566p.Y121Yc.363C>TSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.A3944Sc.11830G>TSubstitution - Missense
TRIM24ENSG00000122779ENST00000343526p.P682Pc.2046A>GSubstitution - coding silent
KRT38ENSG00000171360ENST00000246646p.S7Gc.19A>GSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.K1753Kc.5259A>GSubstitution - coding silent
TMEM104ENSG00000109066ENST00000335464p.F323Lc.969C>GSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.?c.3293-4G>AUnknown
ENST00000542622p.F230Fc.690C>TSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.P708Pc.2124C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.D6048Dc.18144C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
MVKENSG00000110921ENST00000228510p.S128Sc.384C>TSubstitution - coding silent
ENST00000319957p.P55Pc.165G>CSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.D4612Gc.13835A>GSubstitution - Missense
PTERENSG00000165983ENST00000378000p.S206Pc.616T>CSubstitution - Missense
NM_014381.1p.Q698Rc.2093A>GSubstitution - Missense
TBC1D8BENSG00000133138ENST00000310452p.R370Hc.1109G>ASubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.T304Mc.911C>TSubstitution - Missense
FANCAENSG00000187741ENST00000389301p.K701Ec.2101A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S289Tc.866G>CSubstitution - Missense
HSPA4LENSG00000164070ENST00000508776p.?c.2167-7T>AUnknown
FCGBPENSG00000090920ENST00000221347p.S2639Sc.7917C>TSubstitution - coding silent
ENST00000316490p.G3058Rc.9172G>CSubstitution - Missense
SU_SgK071p.T320Tc.960C>TSubstitution - coding silent
FER1L6ENSG00000214814ENST00000399018p.K1488Kc.4464G>ASubstitution - coding silent
DFNB31ENSG00000095397ENST00000362057p.E341Kc.1021G>ASubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.D570Yc.1708G>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.S484Pc.1450T>CSubstitution - Missense
RBKSENSG00000171174ENST00000444339p.T256fs*24c.765delCDeletion - Frameshift
OR10A7ENSG00000179919ENST00000326258p.Y290Yc.870C>TSubstitution - coding silent
RASAL3ENSG00000105122ENST00000343625p.V583Mc.1747G>ASubstitution - Missense
UBXN11ENSG00000158062ENST00000374222p.R125Wc.373C>TSubstitution - Missense
RHOGENSG00000177105ENST00000351018p.R49Hc.146G>ASubstitution - Missense
ADSSL1ENSG00000185100ENST00000332972p.E160*c.478G>TSubstitution - Nonsense
CLEC16AENSG00000038532ENST00000409790p.L1009Lc.3027T>CSubstitution - coding silent
ENST00000398121p.Y15Cc.44A>GSubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.D359Yc.1075G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2191Ic.6572C>TSubstitution - Missense
NM_206943.1p.?c.4274-4G>AUnknown
C16orf90ENSG00000215131ENST00000399645p.S50Sc.150C>TSubstitution - coding silent
VPS35ENSG00000069329ENST00000299138p.Y439Yc.1317T>CSubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.T332Mc.995C>TSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.N283Sc.848A>GSubstitution - Missense
ELMO1ENSG00000155849ENST00000310758p.H409Yc.1225C>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.I1363Ic.4089C>TSubstitution - coding silent
ENST00000229606p.R238Wc.712A>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.L90Lc.268T>CSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.A765Tc.2293G>ASubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.S262Sc.786C>GSubstitution - coding silent
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
KRASENSG00000133703ENST00000256078p.G12Vc.35G>TSubstitution - Missense
LOXL1ENSG00000129038ENST00000261921p.A140Ac.420C>TSubstitution - coding silent
CSF3RENSG00000119535ENST00000373103p.P57Pc.171G>ASubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.A3944Sc.11830G>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.E488Kc.1462G>ASubstitution - Missense
PPAPDC3ENSG00000160539ENST00000372264p.R234Cc.700C>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.E283Qc.847G>CSubstitution - Missense
ENST00000378024_v70p.D4612Gc.13835A>GSubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.K442Nc.1326G>TSubstitution - Missense
ENST00000414315p.H47Rc.140A>GSubstitution - Missense
CD200R1ENSG00000163606ENST00000440122p.S138Lc.413C>TSubstitution - Missense
COG6ENSG00000133103ENST00000455146p.L604Lc.1810C>TSubstitution - coding silent
OR6S1ENSG00000181803ENST00000320704p.I94Vc.280A>GSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.G1139Gc.3417C>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.T1849Ac.5545A>GSubstitution - Missense
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000312350p.E488Kc.1462G>ASubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.S1239Rc.3717T>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.N1002Sc.3005A>GSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.V2819Mc.8455G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.K1004Kc.3012A>GSubstitution - coding silent
P4HBENSG00000185624ENST00000331483p.D499Dc.1497T>CSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.S247Sc.741C>TSubstitution - coding silent
THSD7BENSG00000144229ENST00000272643p.G1010Ec.3029G>ASubstitution - Missense
ANKRD30BLENSG00000163046ENST00000409867p.?c.219-10A>TUnknown
CACNA1BENSG00000148408ENST00000371372p.Q2246Hc.6738G>CSubstitution - Missense
ENST00000575751_v68p.P210Rc.629C>GSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.I311Nc.932T>ASubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.?c.313+3A>GUnknown
GPSM1ENSG00000160360ENST00000354753p.D100Nc.298G>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.T384_S452del69c.1146_1352del207Deletion - In frame
BMPERENSG00000164619ENST00000297161p.A446Tc.1336G>ASubstitution - Missense
TRAF3IP3ENSG00000009790ENST00000367024p.N548Nc.1644C>TSubstitution - coding silent
VEGFBENSG00000173511ENST00000426086p.D136Hc.406G>CSubstitution - Missense
DHX29ENSG00000067248ENST00000251636p.M482Tc.1445T>CSubstitution - Missense
TICAM1ENSG00000127666ENST00000248244p.S169Sc.507G>ASubstitution - coding silent
HSPG2ENSG00000142798ENST00000453796p.R19fs*86c.55_56delAGDeletion - Frameshift
OR52E8ENSG00000183269ENST00000537935p.P164Pc.492A>GSubstitution - coding silent
XRCC3ENSG00000126215ENST00000554913p.H346Pc.1037A>CSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T3744Ic.11231C>TSubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.D286Vc.857A>TSubstitution - Missense
CHTOPENSG00000160679ENST00000368694p.R124Gc.370A>GSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.S1376Gc.4126A>GSubstitution - Missense
DYRK2ENSG00000127334ENST00000344096p.A397Ac.1191C>ASubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
DNAJC10ENSG00000077232ENST00000264065p.I18Ic.54T>CSubstitution - coding silent
C3orf38ENSG00000179021ENST00000318887p.I275delIc.823_825delATTDeletion - In frame
ALOX12BENSG00000179477ENST00000319144p.L187Lc.561C>TSubstitution - coding silent
ACTR8ENSG00000113812ENST00000231909p.?c.276+9T>CUnknown
VWDEENSG00000146530ENST00000275358p.N583Yc.1747A>TSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.V537Vc.1611G>ASubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.G1478Dc.4433G>ASubstitution - Missense
SLC9A9ENSG00000181804ENST00000316549p.I123Kc.368T>ASubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.T535Tc.1605T>ASubstitution - coding silent
ZNF276ENSG00000158805ENST00000443381p.D479Nc.1435G>ASubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.E495Kc.1483G>ASubstitution - Missense
MAPK9ENSG00000050748ENST00000452135p.K68Nc.204G>CSubstitution - Missense
AK8ENSG00000165695ENST00000298545p.S449Sc.1347G>ASubstitution - coding silent
GGA2ENSG00000103365ENST00000309859p.Q72Rc.215A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.N6001Sc.18002A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.F3565Sc.10694T>CSubstitution - Missense
NM_058004.1p.?c.3069+8A>GUnknown
GSTK1ENSG00000197448ENST00000479303p.G248Dc.743G>ASubstitution - Missense
FGFR3ENSG00000068078ENST00000340107p.K594Kc.1782G>ASubstitution - coding silent
KCNIP1ENSG00000182132ENST00000377360p.D185Nc.553G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.T155Tc.465G>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.?c.3848-2A>CUnknown
CLASP1ENSG00000074054ENST00000397587p.A1306Ac.3918G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000541859p.A1083Ac.3249G>ASubstitution - coding silent
HRH3ENSG00000101180ENST00000340177p.A236Sc.706G>TSubstitution - Missense
CACNA2D2ENSG00000007402ENST00000424201p.N384Nc.1152C>TSubstitution - coding silent
ENST00000360191p.A327Tc.979G>ASubstitution - Missense
USP37ENSG00000135913ENST00000258399p.R420Kc.1259G>ASubstitution - Missense
DMDENSG00000198947ENST00000357033p.T960Ic.2879C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2192Lc.6575C>TSubstitution - Missense
ENST00000358511_v70p.P1958Hc.5873C>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.R33Qc.98G>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.V268Ic.802G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.N4300Sc.12899A>GSubstitution - Missense
ENST00000400460p.P124Rc.371C>GSubstitution - Missense
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.H179Rc.536A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S296Tc.887G>CSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.S2060delSc.6174_6176delCTCDeletion - In frame
ASB15ENSG00000146809ENST00000451558p.D428Dc.1284C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.P3514Pc.10542T>GSubstitution - coding silent
ANO4ENSG00000151572ENST00000392979p.V89Vc.267G>ASubstitution - coding silent
MUC2ENSG00000198788ENST00000359061p.V137Vc.411C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.E2328Ec.6984G>ASubstitution - coding silent
LRRC49ENSG00000137821ENST00000260382p.S223Pc.667T>CSubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.S738Fc.2213C>TSubstitution - Missense
NUTM2GENSG00000188152ENST00000372322p.N174Nc.522C>TSubstitution - coding silent
MCMDC2ENSG00000178460ENST00000396592p.L90Lc.268T>CSubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.C1419Fc.4256G>TSubstitution - Missense
PCGF2ENSG00000056661ENST00000360797p.P14Pc.42C>TSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.R20Qc.59G>ASubstitution - Missense
CSN2ENSG00000135222ENST00000353151p.P116Lc.347C>TSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.R134Rc.402G>ASubstitution - coding silent
DIDO1ENSG00000101191ENST00000370366p.K442Nc.1326G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R4821Hc.14462G>ASubstitution - Missense
NM_006343p.P252Pc.756A>CSubstitution - coding silent
LONRF2ENSG00000170500ENST00000393437p.S607Sc.1821T>GSubstitution - coding silent
ENST00000405167p.T2991Ic.8972C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.S2835Cc.8504C>GSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.V63Gc.188T>GSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.I696Ic.2088C>TSubstitution - coding silent
ENST00000316490_v65p.G3106Rc.9316G>CSubstitution - Missense
FASTKENSG00000164896ENST00000297532p.R326Rc.978G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.N6001Sc.18002A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.F3808Sc.11423T>CSubstitution - Missense
OR7C2ENSG00000127529ENST00000248072p.R139Rc.417G>ASubstitution - coding silent
SLC25A48ENSG00000145832ENST00000420621p.V75Mc.223G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000381822p.L96Lc.288T>CSubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.S129Sc.387G>ASubstitution - coding silent
CD200R1ENSG00000163606ENST00000308611p.S138Lc.413C>TSubstitution - Missense
KRT78ENSG00000170423ENST00000304620p.E377Ec.1131G>ASubstitution - coding silent
PCENSG00000173599ENST00000393955p.M1145Ic.3435G>TSubstitution - Missense
PDGFDENSG00000170962ENST00000393158p.A13Ac.39A>CSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.T39Ic.116C>TSubstitution - Missense
ENST00000389961_v65p.S1239Rc.3717T>GSubstitution - Missense
ENST00000266524p.S813Yc.2438C>ASubstitution - Missense
ACTR8ENSG00000113812ENST00000335754p.?c.1161+9T>CUnknown
MAGI1ENSG00000151276ENST00000483466p.E737Ac.2210A>CSubstitution - Missense
FRMD4AENSG00000151474ENST00000264546p.S549Rc.1647T>ASubstitution - Missense
TMC6ENSG00000141524ENST00000322914p.?c.1383+6G>AUnknown
EVA1CENSG00000166979ENST00000300255p.S427Sc.1281T>CSubstitution - coding silent
CES1ENSG00000198848ENST00000360526p.G211Rc.631G>ASubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.G987Gc.2961G>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S289Tc.866G>CSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.?c.6576+5A>GUnknown
ZNF606ENSG00000166704ENST00000341164p.T535Tc.1605T>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.A622Tc.1864G>ASubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.S1006Gc.3016A>GSubstitution - Missense
UEVLDENSG00000151116ENST00000543987p.R375Rc.1125G>ASubstitution - coding silent
PPP2R1BENSG00000137713ENST00000527614p.R270Cc.808C>TSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.R1072Hc.3215G>ASubstitution - Missense
CYB5R2ENSG00000166394ENST00000524790p.P42Lc.125C>TSubstitution - Missense
COG6ENSG00000133103ENST00000416691p.L604Lc.1810C>TSubstitution - coding silent
DCAF6ENSG00000143164ENST00000367840p.T382Ac.1144A>GSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.?c.896-10T>AUnknown
ECE1ENSG00000117298ENST00000264205p.E455Ec.1365G>ASubstitution - coding silent
ENST00000263187_v70p.S315*c.944C>ASubstitution - Nonsense
EXO1ENSG00000174371ENST00000366548p.D303Gc.908A>GSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.S287Sc.861G>ASubstitution - coding silent
DCCENSG00000187323ENST00000412726p.T458Nc.1373C>ASubstitution - Missense
MC2RENSG00000185231ENST00000399821p.E41Qc.121G>CSubstitution - Missense
TBCDENSG00000141556ENST00000397466p.K67Rc.200A>GSubstitution - Missense
ENST00000319144_v70p.L187Lc.561C>TSubstitution - coding silent
BCAS3ENSG00000141376ENST00000589222p.?c.993+5G>AUnknown
UNC13AENSG00000130477ENST00000252773p.?c.270+10G>AUnknown
SPTBN4ENSG00000160460ENST00000392025p.I106Ic.318C>TSubstitution - coding silent
HRH3ENSG00000101180ENST00000317393p.A236Sc.706G>TSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.?c.372+5G>AUnknown
CLASP1ENSG00000074054ENST00000455322p.A1322Ac.3966G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000545861p.A1073Ac.3219G>ASubstitution - coding silent
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
ENST00000314583_v70p.A362Pc.1084G>CSubstitution - Missense
ENST00000314583_v70p.N376Nc.1128T>CSubstitution - coding silent
HSPA4LENSG00000164070ENST00000439123p.?c.2260-7T>AUnknown
MAST4ENSG00000069020ENST00000403666p.S1871delSc.5607_5609delCTCDeletion - In frame
MAST4ENSG00000069020ENST00000261569p.S1866delSc.5592_5594delCTCDeletion - In frame
EVC2ENSG00000173040ENST00000344938p.L331Pc.992T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S289Tc.866G>CSubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.R263Wc.787A>TSubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.V151Vc.453G>ASubstitution - coding silent
ENST00000257665_v70p.N525Sc.1574A>GSubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.N327Ic.980A>TSubstitution - Missense
C9orf9ENSG00000165698ENST00000372136p.S59Gc.175A>GSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.A1657Pc.4969G>CSubstitution - Missense
NM_053025p.E1066Vc.3197A>TSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.R467Hc.1400G>ASubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.V603Mc.1807G>ASubstitution - Missense
ENST00000398860p.N3045Nc.9135T>CSubstitution - coding silent
SAV1ENSG00000151748ENST00000324679p.N382Kc.1146T>ASubstitution - Missense
SECISBP2LENSG00000138593ENST00000559471p.G561fs*16c.1673_1674insAInsertion - Frameshift
COL5A2ENSG00000204262ENST00000374866p.P1051Pc.3153A>GSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.N1002Sc.3005A>GSubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.Q586Qc.1758A>GSubstitution - coding silent
GGTLC1ENSG00000149435ENST00000335694p.P105Pc.315G>ASubstitution - coding silent
KRT28ENSG00000173908ENST00000306658p.T343Tc.1029G>ASubstitution - coding silent
HTTENSG00000197386ENST00000355072p.A3070Tc.9208G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.I696Ic.2088C>TSubstitution - coding silent
L3MBTL4ENSG00000154655ENST00000400105p.A48Tc.142G>ASubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.?c.2262-8T>CUnknown
IFIH1ENSG00000115267ENST00000263642p.G965Gc.2895C>TSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.C106Yc.317G>ASubstitution - Missense
ENST00000263281_v70p.?c.489-6C>AUnknown
SQLEENSG00000104549ENST00000265896p.A409Tc.1225G>ASubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.S361Sc.1083C>TSubstitution - coding silent
SNAPC1ENSG00000023608ENST00000216294p.L7Rc.20T>GSubstitution - Missense
SCAMP3ENSG00000116521ENST00000302631p.V215Vc.645C>TSubstitution - coding silent
EIF2B1ENSG00000111361ENST00000424014p.C115Cc.345C>TSubstitution - coding silent
TMED2ENSG00000086598ENST00000262225p.L11Lc.31C>TSubstitution - coding silent
SUSD3ENSG00000157303ENST00000375472p.D180Nc.538G>ASubstitution - Missense
BRDTENSG00000137948ENST00000362005p.S49Sc.147A>GSubstitution - coding silent
TLE3ENSG00000140332ENST00000317509p.P341Qc.1022C>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.E737Ac.2210A>CSubstitution - Missense
IKBKAPENSG00000070061ENST00000374647p.R696Qc.2087G>ASubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.T3199Pc.9595A>CSubstitution - Missense
ENPP1ENSG00000197594ENST00000360971p.?c.1737+10G>AUnknown
RAD51DENSG00000185379ENST00000394589p.I331Nc.992T>ASubstitution - Missense
RAD51DENSG00000185379ENST00000335858p.I199Nc.596T>ASubstitution - Missense
OR1D5ENSG00000262628ENST00000575751p.P210Rc.629C>GSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.Q123Ec.367C>GSubstitution - Missense
LPOENSG00000167419ENST00000262290p.P578Pc.1734G>ASubstitution - coding silent
ZNF383ENSG00000188283ENST00000352998p.H188Dc.562C>GSubstitution - Missense
ZNF302ENSG00000089335ENST00000505242p.H247Rc.740A>GSubstitution - Missense
C9orf96ENSG00000198870ENST00000371957p.T320Tc.960C>TSubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.S449Sc.1347G>ASubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.P518Pc.1554C>TSubstitution - coding silent
PCDHGA8ENSG00000253767ENST00000398604p.H229Hc.687C>TSubstitution - coding silent
CYP2A13ENSG00000197838ENST00000330436p.T134_L135insTc.397_398insCCAInsertion - In frame
LTBP4ENSG00000090006ENST00000308370p.T787Tc.2361T>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000392023p.I39Ic.117C>TSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.T279_S382del104c.835_1148>TCDeletion - In frame
ENST00000544403p.R198Wc.592C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.A159Ac.477C>TSubstitution - coding silent
ENST00000539307p.A196Ac.588C>TSubstitution - coding silent
TMEM168ENSG00000146802ENST00000312814p.R34Rc.102G>TSubstitution - coding silent
ENST00000319379p.S4706Nc.14117G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L2761Lc.8281T>CSubstitution - coding silent
ENST00000319379p.L2706Lc.8116T>CSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.A105Ac.315G>ASubstitution - coding silent
ZNF777ENSG00000196453ENST00000247930p.P518Pc.1554C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.S2942Sc.8826G>ASubstitution - coding silent
PVRIGENSG00000213413ENST00000317271p.P311fs*14c.926_927insCTInsertion - Frameshift
RBAKENSG00000146587ENST00000396912p.S254Lc.761C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.S4761Nc.14282G>ASubstitution - Missense
ENST00000331116p.T114Kc.341C>ASubstitution - Missense
WWP2ENSG00000198373ENST00000359154p.I765Ic.2295C>ASubstitution - coding silent
PALM3ENSG00000187867ENST00000340790p.E457Ec.1371G>ASubstitution - coding silent
COG7ENSG00000168434ENST00000307149p.Y225Cc.674A>GSubstitution - Missense
BRICD5ENSG00000182685ENST00000328540p.R135Wc.403C>TSubstitution - Missense
PKIGENSG00000168734ENST00000372894p.G28Rc.82G>ASubstitution - Missense
FITM2ENSG00000197296ENST00000396825p.L24Lc.70C>TSubstitution - coding silent
L3MBTL1ENSG00000185513ENST00000427442p.?c.1218+5G>AUnknown
ENST00000373135_v70p.?c.1014+5G>AUnknown
L3MBTL1ENSG00000185513ENST00000373134p.?c.1014+5G>AUnknown
NEBENSG00000183091ENST00000427231p.D6048Dc.18144C>TSubstitution - coding silent
CD40ENSG00000101017ENST00000372285p.I208Vc.622A>GSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.L331Pc.992T>CSubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.D577Vc.1730A>TSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.?c.3069+8A>GUnknown
ZNF74ENSG00000185252ENST00000400451p.S569Pc.1705T>CSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.C106Yc.317G>ASubstitution - Missense
FPGSENSG00000136877ENST00000373247p.?c.1212-5C>GUnknown
GARNL3ENSG00000136895ENST00000373387p.R7Gc.19A>GSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.R143Sc.429G>TSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.A1656Pc.4966G>CSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.I217Sc.650T>GSubstitution - Missense
KLHL2ENSG00000109466ENST00000226725p.D552Vc.1655A>TSubstitution - Missense
RTP4ENSG00000136514ENST00000259030p.R85Hc.254G>ASubstitution - Missense
KCNIP1ENSG00000182132ENST00000411494p.D187Nc.559G>ASubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.K592Kc.1776G>ASubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.E283Qc.847G>CSubstitution - Missense
ELOVL5ENSG00000012660ENST00000304434p.N255Nc.765C>TSubstitution - coding silent
GLYATL3ENSG00000203972ENST00000371197p.V44Vc.132G>TSubstitution - coding silent
GPR115ENSG00000153294ENST00000371220p.V487Mc.1459G>ASubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.V108Vc.324G>ASubstitution - coding silent
UEVLDENSG00000151116ENST00000543987p.D376Yc.1126G>TSubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.G417Rc.1249G>ASubstitution - Missense
ZNF276ENSG00000158805ENST00000289816p.D404Nc.1210G>ASubstitution - Missense
VPS9D1ENSG00000075399ENST00000389386p.?c.1258+4A>CUnknown
MYH2ENSG00000125414ENST00000245503p.R284Kc.851G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.K442Nc.1326G>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000370371p.K442Nc.1326G>TSubstitution - Missense
TMC4ENSG00000167608ENST00000301187p.S172Sc.516T>CSubstitution - coding silent
SEC14L3ENSG00000100012ENST00000215812p.?c.174+6A>CUnknown
RBKSENSG00000171174ENST00000302188p.T256fs*>67c.765delCDeletion - Frameshift
ENST00000405167p.P2192Lc.6575C>TSubstitution - Missense
ENST00000405167p.T2191Ic.6572C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2991Ic.8972C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3072Pc.9216G>ASubstitution - coding silent
SH3TC1ENSG00000125089ENST00000245105p.T406Tc.1218C>TSubstitution - coding silent
EMCNENSG00000164035ENST00000296420p.R186Qc.557G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.T956Ic.2867C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.T956Ic.2867C>TSubstitution - Missense
GSPT2ENSG00000189369ENST00000340438p.S33Sc.99C>TSubstitution - coding silent
CCDC22ENSG00000101997ENST00000376227p.D551Nc.1651G>ASubstitution - Missense
CD300LBENSG00000178789ENST00000392621p.A63Vc.188C>TSubstitution - Missense
CD300LBENSG00000178789ENST00000392621p.A63Sc.187G>TSubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.I578Fc.1732A>TSubstitution - Missense
WDR36ENSG00000134987ENST00000506538p.P744Pc.2232A>GSubstitution - coding silent
SDHAENSG00000073578ENST00000264932p.?c.456+9C>TUnknown
MAPK9ENSG00000050748ENST00000455781p.K68Nc.204G>CSubstitution - Missense
MAPK9ENSG00000050748ENST00000393360p.K68Nc.204G>CSubstitution - Missense
C5orf60ENSG00000204661ENST00000448248p.R147Wc.439C>TSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.R1181Hc.3542G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.G928Gc.2784G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000263710p.A1366Ac.4098G>ASubstitution - coding silent
MRPL44ENSG00000135900ENST00000258383p.R248Rc.744G>ASubstitution - coding silent
ZNF142ENSG00000115568ENST00000411696p.P113Sc.337C>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.P1958Hc.5873C>ASubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.R953Wc.2857C>TSubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.R860Wc.2578C>TSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.V63Gc.188T>GSubstitution - Missense
CCDC13ENSG00000244607ENST00000310232p.R708Qc.2123G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.S1881delSc.5637_5639delCTCDeletion - In frame
COL7A1ENSG00000114270ENST00000328333p.R886Hc.2657G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.?c.3197-2A>CUnknown
NM_001371.1p.?c.3197-2A>CUnknown
AGGF1ENSG00000164252ENST00000312916p.T574Tc.1722A>GSubstitution - coding silent
TRIP6ENSG00000087077ENST00000200457p.T382Mc.1145C>TSubstitution - Missense
PCOLCEENSG00000106333ENST00000223061p.G368Ec.1103G>ASubstitution - Missense
ARRDC1ENSG00000197070ENST00000371421p.A236Ac.708G>ASubstitution - coding silent
UBQLN2ENSG00000188021ENST00000338222p.N344Sc.1031A>GSubstitution - Missense
XM_060054.3p.P88Lc.263C>TSubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.?c.534+10G>AUnknown
FLYWCH1ENSG00000059122ENST00000416288p.S286Sc.858G>ASubstitution - coding silent
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Nc.1128T>CSubstitution - coding silent
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
TIMMDC1ENSG00000113845ENST00000494664p.?c.518-6A>GUnknown
BOCENSG00000144857ENST00000355385p.S270Rc.808A>CSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.G979Ec.2936G>ASubstitution - Missense
ENST00000409867_v68p.?c.219-10A>TUnknown
CYP4V2ENSG00000145476ENST00000378802p.R144Hc.431G>ASubstitution - Missense
SLC25A48ENSG00000145832ENST00000274513p.V75Mc.223G>ASubstitution - Missense
SLC25A48ENSG00000145832ENST00000412661p.V75Mc.223G>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369143p.R33Qc.98G>ASubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.M1396Vc.4186A>GSubstitution - Missense
ECHDC1ENSG00000093144ENST00000531967p.?c.435-8A>GUnknown
ECHDC1ENSG00000093144ENST00000368289p.?c.364-8A>GUnknown
TBC1D32ENSG00000146350ENST00000398212p.E130Ec.390A>GSubstitution - coding silent
ENST00000374581p.?c.476+7G>AUnknown
ELAVL1ENSG00000066044ENST00000407627p.A77Ac.231G>ASubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.T329Tc.987T>CSubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.R330Ic.989G>TSubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.S336Ic.1007G>TSubstitution - Missense
ZNF675ENSG00000197372ENST00000359788p.C342Rc.1024T>CSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.P417Sc.1249C>TSubstitution - Missense
KDM4BENSG00000127663ENST00000159111p.?c.2737-6T>CUnknown
ENST00000237536_v68p.?c.4833+8G>AUnknown
SOGA1ENSG00000149639ENST00000237536p.?c.4833+8G>AUnknown
SOGA1ENSG00000149639ENST00000237536p.?c.4833+8G>AUnknown
KIR3DX1ENSG00000104970ENST00000335056p.T344Sc.1030A>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.N1324Yc.3970A>TSubstitution - Missense
ZNF658ENSG00000196409ENST00000377626p.D378Vc.1133A>TSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.S893Fc.2678C>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.Q586Qc.1758A>GSubstitution - coding silent
ATXN7ENSG00000163635ENST00000398590p.P53Lc.158C>TSubstitution - Missense
ATXN7ENSG00000163635ENST00000295900p.P53Lc.158C>TSubstitution - Missense
FRMD4BENSG00000114541ENST00000398540p.S603Rc.1809T>ASubstitution - Missense
EFCAB3ENSG00000172421ENST00000450662p.N391Kc.1173T>ASubstitution - Missense
CLUHENSG00000132361ENST00000435359p.A16Vc.47C>TSubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.T337Mc.1010C>TSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.?c.5914+10C>TUnknown
CLUHENSG00000132361ENST00000435359p.A16Vc.47C>TSubstitution - Missense
TBCDENSG00000141556ENST00000355528p.K453Rc.1358A>GSubstitution - Missense
CCDC57ENSG00000176155ENST00000389641p.A258Ac.774C>GSubstitution - coding silent
ENST00000445854p.A258Ac.774C>GSubstitution - coding silent
OXLD1ENSG00000204237ENST00000374741p.G72Sc.214G>ASubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.T244Ac.730A>GSubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.T244Ac.730A>GSubstitution - Missense
ZNF443ENSG00000180855ENST00000301547p.V435Ac.1304T>CSubstitution - Missense
DAND5ENSG00000179284ENST00000317060p.P113Pc.339C>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.A793Tc.2377G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.L1471Pc.4412T>CSubstitution - Missense
ENST00000420871_v68p.L722Pc.2165T>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.G1702Gc.5106G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.G953Gc.2859G>ASubstitution - coding silent
ENST00000420871_v68p.K1004Kc.3012A>GSubstitution - coding silent
PTCD3ENSG00000132300ENST00000254630p.M420Vc.1258A>GSubstitution - Missense
ENST00000380102_v68p.C161Cc.483T>CSubstitution - coding silent
PROS1ENSG00000184500ENST00000394236p.T630Ic.1889C>TSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.?c.1443+8C>TUnknown
KRTAP4-16PENSG00000241241ENST00000440582p.P171Pc.513A>CSubstitution - coding silent
KCNJ15ENSG00000157551ENST00000398930p.P313Sc.937C>TSubstitution - Missense
NM_003895.2p.I436Ic.1308C>TSubstitution - coding silent
GPLD1ENSG00000112293ENST00000230036p.L657Rc.1970T>GSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.P516Pc.1548G>ASubstitution - coding silent
TRIM24ENSG00000122779ENST00000415680p.P648Pc.1944A>GSubstitution - coding silent
C7orf63ENSG00000105792ENST00000389297p.T941Rc.2822C>GSubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.T895Rc.2684C>GSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.G54Ec.161G>ASubstitution - Missense
TRAM1ENSG00000067167ENST00000262213p.F286Cc.857T>GSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.V1037Lc.3109G>CSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.V441Lc.1321G>CSubstitution - Missense
ENSG00000173213ENST00000308911p.T107Tc.321A>CSubstitution - coding silent
GGTLC1ENSG00000149435ENST00000278765p.P105Pc.315G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R11193Hc.33578G>ASubstitution - Missense
ENST00000356127p.R11193Hc.33578G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R4888Hc.14663G>ASubstitution - Missense
NM_003319p.R4696Hc.14087G>ASubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.S457Sc.1371G>ASubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.?c.713+7C>TUnknown
RAPH1ENSG00000173166ENST00000319170p.R1248Gc.3742A>GSubstitution - Missense
ALCAMENSG00000170017ENST00000306107p.?c.1665-10T>CUnknown
ENST00000336486p.?c.396-5C>TUnknown
ATP8A2ENSG00000132932ENST00000381655p.S332Sc.996G>ASubstitution - coding silent
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
CSF3RENSG00000119535ENST00000373104p.P57Pc.171G>ASubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.D3463Nc.10387G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.D3607Nc.10819G>ASubstitution - Missense
ST14ENSG00000149418ENST00000278742p.T619Mc.1856C>TSubstitution - Missense
ATP1A4ENSG00000132681ENST00000368081p.?c.2311+1G>TUnknown
PAPPA2ENSG00000116183ENST00000367662p.P223Pc.669C>TSubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367661p.P223Pc.669C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000261266p.S1158Gc.3472A>GSubstitution - Missense
NM_002837.2p.S1158Gc.3472A>GSubstitution - Missense
CNOT2ENSG00000111596ENST00000229195p.?c.569+8G>AUnknown
PDGFDENSG00000170962ENST00000393158p.A13Ac.39A>CSubstitution - coding silent
USP47ENSG00000170242ENST00000339865p.P324Pc.972C>TSubstitution - coding silent
PPP2R1BENSG00000137713ENST00000311129p.R270Cc.808C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.T39Ic.116C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.V137Vc.411C>TSubstitution - coding silent
NBL1ENSG00000158747ENST00000289749p.L38Vc.112C>GSubstitution - Missense
NBL1ENSG00000158747ENST00000375136p.L3Vc.7C>GSubstitution - Missense
NM_004284.2p.?c.896-10T>AUnknown
ACSM1ENSG00000166743ENST00000219151p.E88Kc.262G>ASubstitution - Missense
C14orf166BENSG00000100565ENST00000393774p.A263Ac.789T>CSubstitution - coding silent
PROX2ENSG00000119608ENST00000445876p.P410Lc.1229C>TSubstitution - Missense
RGS6ENSG00000182732ENST00000553525p.A89Sc.265G>TSubstitution - Missense
RGS6ENSG00000182732ENST00000555571p.A89Sc.265G>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R1157Hc.3470G>ASubstitution - Missense
PALD1ENSG00000107719ENST00000263563p.P633Pc.1899C>GSubstitution - coding silent
DDX50ENSG00000107625ENST00000373585p.?c.1935+9A>TUnknown
VEGFBENSG00000173511ENST00000309422p.D136Hc.406G>CSubstitution - Missense
VEGFBENSG00000173511ENST00000309422p.A194_A195delAAc.571_576delGCCGCTDeletion - In frame
CITENSG00000122966ENST00000392521p.?c.1887+1G>TUnknown
CITENSG00000122966ENST00000261833p.?c.1887+1G>TUnknown
SU_CRIKp.?c.1890+1G>TUnknown
TNFRSF1BENSG00000028137ENST00000376259p.R309Gc.925C>GSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.R342Rc.1026G>ASubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.R1759Sc.5277G>CSubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.V202Ic.604G>ASubstitution - Missense
ENST00000340350p.S50Sc.150C>TSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000538872p.L511Rc.1532T>GSubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.S1005fs*4c.3013_3014insAInsertion - Frameshift
SECISBP2LENSG00000138593ENST00000261847p.G516fs*16c.1538_1539insAInsertion - Frameshift
NCOR2ENSG00000196498ENST00000405201p.?c.4073-6C>TUnknown
NM_006312.2p.?c.4094-6C>TUnknown
CCDC92ENSG00000119242ENST00000238156p.K137Rc.410A>GSubstitution - Missense
OR2L5ENSG00000197454ENST00000355281p.W219Cc.657G>TSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.S10Ic.29G>TSubstitution - Missense
PPP1R8ENSG00000117751ENST00000311772p.?c.703-4G>AUnknown
SLC35F4ENSG00000151812ENST00000339762p.V307Lc.919G>CSubstitution - Missense
BMP4ENSG00000125378ENST00000559087p.E172Kc.514G>ASubstitution - Missense
MSH4ENSG00000057468ENST00000263187p.S315*c.944C>ASubstitution - Nonsense
USP3ENSG00000140455ENST00000380324p.K397Kc.1191G>ASubstitution - coding silent
PPP4R4ENSG00000119698ENST00000304338p.L275Lc.825G>ASubstitution - coding silent
GBP4ENSG00000162654ENST00000355754p.F187Lc.561C>ASubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.F981Sc.2942T>CSubstitution - Missense
ATP11AENSG00000068650ENST00000375630p.F981Sc.2942T>CSubstitution - Missense
UGT3A2ENSG00000168671ENST00000282507p.R432Kc.1295G>ASubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.T71Ic.212C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.T71Ic.212C>TSubstitution - Missense
OSMRENSG00000145623ENST00000274276p.C751Cc.2253C>TSubstitution - coding silent
TGM3ENSG00000125780ENST00000381458p.K669Ec.2005A>GSubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.A815Tc.2443G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.L90Lc.268T>CSubstitution - coding silent
HNRNPMENSG00000099783ENST00000325495p.?c.896-3C>TUnknown
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense
JPH4ENSG00000092051ENST00000356300p.A502fs*12c.1504_1505insGInsertion - Frameshift
ALPLENSG00000162551ENST00000374832p.V522Ic.1564G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.H179Rc.536A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
ENST00000545858p.H86Rc.257A>GSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.D725Nc.2173G>ASubstitution - Missense
ENST00000540262p.F103Fc.309C>TSubstitution - coding silent
NMNAT3ENSG00000163864ENST00000339837p.Q117Rc.350A>GSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.S356Sc.1068C>TSubstitution - coding silent
ENSG00000117600ENST00000370185p.R658Hc.1973G>ASubstitution - Missense
KRTCAP3ENSG00000157992ENST00000288873p.?c.206_213+8del16Unknown
HCLS1ENSG00000180353ENST00000314583p.A362Pc.1084G>CSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H179Rc.536A>GSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.R467Hc.1400G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000602107p.R514Hc.1541G>ASubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.S642Sc.1926G>ASubstitution - coding silent
MAP3K12ENSG00000139625ENST00000267079p.S609Sc.1827G>ASubstitution - coding silent
SP7ENSG00000170374ENST00000536324p.R289Wc.865C>TSubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.E458Ec.1374G>ASubstitution - coding silent
ARIH1ENSG00000166233ENST00000379887p.?c.1215+7A>GUnknown
KPNA3ENSG00000102753ENST00000261667p.S211Sc.633C>ASubstitution - coding silent
ZC3H13ENSG00000123200ENST00000282007p.R1343Qc.4028G>ASubstitution - Missense
OAS2ENSG00000111335ENST00000342315p.N700Dc.2098A>GSubstitution - Missense
ENST00000381852p.?c.36+6T>AUnknown
SDE2ENSG00000143751ENST00000272091p.P439Lc.1316C>TSubstitution - Missense
NM_152608.2p.P427Lc.1280C>TSubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.Y292Fc.875A>TSubstitution - Missense
RAB3GAP2ENSG00000118873ENST00000358951p.V843Ic.2527G>ASubstitution - Missense
CCDC7ENSG00000216937ENST00000277657p.?c.739+9A>GUnknown
OBSCNENSG00000154358ENST00000570156p.P236Sc.706C>TSubstitution - Missense
SU_OBSCN.1p.P236Sc.706C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.P236Sc.706C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.P236Sc.706C>TSubstitution - Missense
MYOFENSG00000138119ENST00000359263p.R1072Hc.3215G>ASubstitution - Missense
ACCSLENSG00000205126ENST00000378832p.R458Rc.1374G>ASubstitution - coding silent
ACCSENSG00000110455ENST00000263776p.W115*c.344G>ASubstitution - Nonsense
ENST00000349637p.P3493Pc.10479T>GSubstitution - coding silent
ENST00000349637p.T3723Ic.11168C>TSubstitution - Missense
FNBP4ENSG00000109920ENST00000263773p.L311Fc.931C>TSubstitution - Missense
OR52I2ENSG00000226288ENST00000312614p.S273Yc.818C>ASubstitution - Missense
HELBENSG00000127311ENST00000247815p.K149Rc.446A>GSubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.N235Nc.705C>TSubstitution - coding silent
TAF5LENSG00000135801ENST00000366675p.N235Nc.705C>TSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000453097p.P55Pc.165G>CSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000358657p.P82Pc.246G>CSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000394856p.P2Pc.6G>CSubstitution - coding silent
CYB5R2ENSG00000166394ENST00000299498p.P42Lc.125C>TSubstitution - Missense
B3GNT6ENSG00000198488ENST00000533140p.E169fs*64c.504delGDeletion - Frameshift
EFTUD1ENSG00000140598ENST00000268206p.A74Gc.221C>GSubstitution - Missense
INF2ENSG00000203485ENST00000392634p.G1139Gc.3417C>TSubstitution - coding silent
OR4D11ENSG00000176200ENST00000313253p.P167Sc.499C>TSubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.N226Dc.676A>GSubstitution - Missense
SLC25A3ENSG00000075415ENST00000228318p.A47Vc.140C>TSubstitution - Missense
ENST00000342887p.L716Pc.2147T>CSubstitution - Missense
MRGPRDENSG00000172938ENST00000309106p.F107Fc.321T>CSubstitution - coding silent
MYOM3ENSG00000142661ENST00000374434p.R527Wc.1579C>TSubstitution - Missense
NM_130398.2p.D303Gc.908A>GSubstitution - Missense
GALEENSG00000117308ENST00000374497p.?c.988+7G>AUnknown
ERCC5ENSG00000134899ENST00000355739p.A986Gc.2957C>GSubstitution - Missense
SLC25A3ENSG00000075415ENST00000551917p.A47Vc.140C>TSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.A962Ac.2886C>TSubstitution - coding silent
ANO4ENSG00000151572ENST00000538618p.V290Vc.870G>ASubstitution - coding silent
SBF2ENSG00000133812ENST00000256190p.H1603Hc.4809C>TSubstitution - coding silent


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