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NB10 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

544 mutations reported
220 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
SLCO1A2ENSG00000084453ENST00000390670p.F575Lc.1725T>ASubstitution - Missense
MCRS1ENSG00000187778ENST00000357123p.I427Ic.1281C>TSubstitution - coding silent
TMEM53ENSG00000126106ENST00000372237p.R121Hc.362G>ASubstitution - Missense
DPTENSG00000143196ENST00000367817p.V178Vc.534G>ASubstitution - coding silent
LAMC1ENSG00000135862ENST00000258341p.D1485fs*28c.4451_4452insAInsertion - Frameshift
ALDH4A1ENSG00000159423ENST00000290597p.D161Dc.483C>TSubstitution - coding silent
MAPTENSG00000186868ENST00000344290p.A297Pc.889G>CSubstitution - Missense
KLK14ENSG00000129437ENST00000391802p.D266Nc.796G>ASubstitution - Missense
LMAN2LENSG00000114988ENST00000264963p.R101Rc.303G>ASubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.R758Qc.2273G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.Y22223Nc.66667T>ASubstitution - Missense
NM_153697.1p.G507Sc.1519G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.E1175Ec.3525G>ASubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.E1175Ec.3525G>ASubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.M3475Tc.10424T>CSubstitution - Missense
ATP2C1ENSG00000017260ENST00000359644p.G408Dc.1223G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.K1749Kc.5247G>ASubstitution - coding silent
AK9ENSG00000155085ENST00000341338p.?c.675-1G>TUnknown
KIAA1671ENSG00000197077ENST00000358431p.V793Ic.2377G>ASubstitution - Missense
ENST00000302418_v70p.Q928Kc.2782C>ASubstitution - Missense
PIAS3ENSG00000131788ENST00000369299p.L69Lc.207C>GSubstitution - coding silent
TMEM210ENSG00000185863ENST00000413619p.D123Nc.367G>ASubstitution - Missense
ATAD3BENSG00000160072ENST00000308647p.Y604Hc.1810T>CSubstitution - Missense
OR10Q1ENSG00000180475ENST00000316770p.P171Pc.513C>TSubstitution - coding silent
LDB1ENSG00000198728ENST00000361198p.A373Vc.1118C>TSubstitution - Missense
C12orf43ENSG00000157895ENST00000288757p.D204Nc.610G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.T1132Ac.3394A>GSubstitution - Missense
ENST00000283050p.L33Lc.97T>CSubstitution - coding silent
LIMK2ENSG00000182541ENST00000331728p.F391Fc.1173C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.M3475Tc.10424T>CSubstitution - Missense
ITKENSG00000113263ENST00000422843p.F26Ic.76T>ASubstitution - Missense
CELF2ENSG00000048740ENST00000354897p.G240Sc.718G>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000368347p.A41Tc.121G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.H3528Yc.10582C>TSubstitution - Missense
ENST00000318252p.L1246Lc.3738C>TSubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.A3384Tc.10150G>ASubstitution - Missense
NM_181334.1p.E442Kc.1324G>ASubstitution - Missense
ANGPTL6ENSG00000130812ENST00000253109p.V143Lc.427G>TSubstitution - Missense
ENST00000332088p.Y121Yc.363C>TSubstitution - coding silent
SLC13A3ENSG00000158296ENST00000372121p.E178Dc.534G>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.R404Sc.1212A>CSubstitution - Missense
ENST00000369020_v68p.P7Lc.20C>TSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.R896Hc.2687G>ASubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.K211Kc.633G>ASubstitution - coding silent
RAD51BENSG00000182185ENST00000487270p.M120Tc.359T>CSubstitution - Missense
SLC39A14ENSG00000104635ENST00000359741p.L206Vc.616C>GSubstitution - Missense
METTL2BENSG00000165055ENST00000262432p.D27Vc.80A>TSubstitution - Missense
WRNENSG00000165392ENST00000298139p.E1067Qc.3199G>CSubstitution - Missense
ATP2C1ENSG00000017260ENST00000393221p.G442Dc.1325G>ASubstitution - Missense
DZIP1LENSG00000158163ENST00000469243p.E424Ec.1272G>ASubstitution - coding silent
TJP3ENSG00000105289ENST00000262968p.R173Rc.519G>ASubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.K1948Qc.5842A>CSubstitution - Missense
F2RL3ENSG00000127533ENST00000248076p.F296Lc.886T>CSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.P1136Sc.3406C>TSubstitution - Missense
MAPK8IP1ENSG00000121653ENST00000241014p.G428Rc.1282G>ASubstitution - Missense
OR6C76ENSG00000185821ENST00000328314p.T84Tc.252A>GSubstitution - coding silent
SU_OBSCN.1p.V4772Lc.14314G>TSubstitution - Missense
NM_006313.1p.S326Sc.978C>TSubstitution - coding silent
ENST00000538912p.?c.419-4T>AUnknown
IPO9ENSG00000198700ENST00000361565p.R718Qc.2153G>ASubstitution - Missense
KLK9ENSG00000213022ENST00000376832p.V151Mc.451G>ASubstitution - Missense
MMP24ENSG00000125966ENST00000246186p.R576Qc.1727G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.K32817Tc.98450A>CSubstitution - Missense
NM_003319p.K26320Tc.78959A>CSubstitution - Missense
ANKRD44ENSG00000065413ENST00000424317p.G347Sc.1039G>ASubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.?c.246+2_246+3insTUnknown
BDH1ENSG00000161267ENST00000392378p.?c.267+5G>AUnknown
TBCKENSG00000145348ENST00000273980p.?c.1450-3C>TUnknown
SAFB2ENSG00000130254ENST00000252542p.R590Kc.1769G>ASubstitution - Missense
XM_379699.1p.A4Tc.10G>ASubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.V157Vc.471G>TSubstitution - coding silent
SMDT1ENSG00000183172ENST00000331479p.D107_*108insDc.320_321insTGAInsertion - In frame
BCLAF1ENSG00000029363ENST00000531224p.L515Ic.1543C>ASubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.I506Ic.1518T>CSubstitution - coding silent
PCDHB15ENSG00000113248ENST00000231173p.T508Tc.1524G>ASubstitution - coding silent
RNF216ENSG00000011275ENST00000389902p.H684Hc.2052C>TSubstitution - coding silent
GLI3ENSG00000106571ENST00000395925p.E776*c.2326G>TSubstitution - Nonsense
CRTAMENSG00000109943ENST00000533709p.V106Fc.316G>TSubstitution - Missense
USP15ENSG00000135655ENST00000280377p.S355Sc.1065C>TSubstitution - coding silent
ENST00000263817_v70p.I626Tc.1877T>CSubstitution - Missense
SAA2ENSG00000134339ENST00000256733p.?c.231-8G>CUnknown
NBPF10ENSG00000163386ENST00000369338p.Q669Qc.2007A>GSubstitution - coding silent
TDRD15ENSG00000218819ENST00000405799p.I454Mc.1362T>GSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.?c.3165-5A>TUnknown
ASAH1ENSG00000104763ENST00000381733p.D46Nc.136G>ASubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.I575Ic.1725C>TSubstitution - coding silent
TUBA4AENSG00000127824ENST00000248437p.P72Pc.216T>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.G539Rc.1615G>ASubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.A209Ac.627C>TSubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.K371Kc.1113A>GSubstitution - coding silent
SAMD7ENSG00000187033ENST00000335556p.S79Sc.237C>TSubstitution - coding silent
PCDHB15ENSG00000113248ENST00000231173p.T508Ac.1522A>GSubstitution - Missense
MCRS1ENSG00000187778ENST00000550165p.I414Ic.1242C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.?c.594+1G>AUnknown
PPP3CBENSG00000107758ENST00000394822p.N337fs*8c.1010_1025del16Deletion - Frameshift
OBSCNENSG00000154358ENST00000570156p.V4902Lc.14704G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.G529Rc.1585G>ASubstitution - Missense
PNPENSG00000198805ENST00000361505p.R158Cc.472C>TSubstitution - Missense
POLA2ENSG00000014138ENST00000265465p.?c.1006+10G>AUnknown
TP53BP1ENSG00000067369ENST00000263801p.H39Yc.115C>TSubstitution - Missense
ATAD3AENSG00000197785ENST00000378755p.R377Rc.1131C>ASubstitution - coding silent
SORDENSG00000140263ENST00000267814p.A253fs*27c.753delGDeletion - Frameshift
KCNH5ENSG00000140015ENST00000322893p.P958Sc.2872C>TSubstitution - Missense
MSTNENSG00000138379ENST00000260950p.P285Hc.854C>ASubstitution - Missense
ENST00000424015p.A82Ec.245C>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.?c.2852-5T>CUnknown
CNOT11ENSG00000158435ENST00000289382p.I391Nc.1172T>ASubstitution - Missense
SLC35F5ENSG00000115084ENST00000245680p.T64Tc.192T>CSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.L2133Mc.6397C>ASubstitution - Missense
ENST00000326605p.I100Vc.298A>GSubstitution - Missense
FSCN1ENSG00000075618ENST00000382361p.K313Rc.938A>GSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.?c.3027-5A>TUnknown
PDE1CENSG00000154678ENST00000396191p.T511Mc.1532C>TSubstitution - Missense
TAS2R7ENSG00000121377ENST00000240687p.I53Mc.159A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.V4190Lc.12568G>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.V108Vc.324C>GSubstitution - coding silent
NYNRINENSG00000205978ENST00000382554p.?c.2545+9T>CUnknown
GTPBP4ENSG00000107937ENST00000360803p.?c.1113+10C>TUnknown
ALDH4A1ENSG00000159423ENST00000375341p.D161Dc.483C>TSubstitution - coding silent
CSNK1G1ENSG00000169118ENST00000303052p.P82Pc.246A>GSubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.A1172Vc.3515C>TSubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.F279Fc.837C>TSubstitution - coding silent
TBC1D17ENSG00000104946ENST00000221543p.C112Fc.335G>TSubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.L645Lc.1935G>TSubstitution - coding silent
PPIL3ENSG00000240344ENST00000392283p.H6Pc.17A>CSubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.D111Hc.331G>CSubstitution - Missense
MAPRE3ENSG00000084764ENST00000233121p.A263Sc.787G>TSubstitution - Missense
GALNT14ENSG00000158089ENST00000349752p.R181Rc.543G>TSubstitution - coding silent
NAPEPLDENSG00000161048ENST00000455523p.C295Yc.884G>ASubstitution - Missense
ELL2ENSG00000118985ENST00000237853p.E494Vc.1481A>TSubstitution - Missense
ADM2ENSG00000128165ENST00000362068p.P82fs*8c.241_242insTInsertion - Frameshift
AK9ENSG00000155085ENST00000424296p.?c.2115-1G>TUnknown
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
OPN5ENSG00000124818ENST00000371211p.Y17*c.51C>ASubstitution - Nonsense
OR4C6ENSG00000181903ENST00000314259p.M257Ic.771G>TSubstitution - Missense
STX16ENSG00000124222ENST00000361770p.Q260Qc.780G>ASubstitution - coding silent
SNRPNENSG00000128739ENST00000400100p.D89Yc.265G>TSubstitution - Missense
PPP3CBENSG00000107758ENST00000360663p.N319fs*8c.956_971del16Deletion - Frameshift
CHD8ENSG00000100888ENST00000399982p.P386Sc.1156C>TSubstitution - Missense
NM_006561.2p.G259Sc.775G>ASubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.?c.1428+9G>TUnknown
CBX1ENSG00000108468ENST00000393408p.R30Qc.89G>ASubstitution - Missense
DHDDSENSG00000117682ENST00000360009p.N18Sc.53A>GSubstitution - Missense
KLK13ENSG00000167759ENST00000156476p.D124Yc.370G>TSubstitution - Missense
BICD2ENSG00000185963ENST00000356884p.E461Kc.1381G>ASubstitution - Missense
CA9ENSG00000107159ENST00000378357p.V35fs*74c.103delGDeletion - Frameshift
ANKRD44ENSG00000065413ENST00000409153p.G532Sc.1594G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K26512Tc.79535A>CSubstitution - Missense
ZNRF3ENSG00000183579ENST00000406323p.E777Kc.2329G>ASubstitution - Missense
LILRA6ENSG00000244482ENST00000270464p.D111Hc.331G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
ENST00000381114p.N442Ic.1325A>TSubstitution - Missense
BOCENSG00000144857ENST00000355385p.T225Tc.675C>TSubstitution - coding silent
UPF1ENSG00000005007ENST00000262803p.D827Yc.2479G>TSubstitution - Missense
UPRTENSG00000094841ENST00000373383p.Q216Qc.648A>GSubstitution - coding silent
TBC1D19ENSG00000109680ENST00000264866p.R396Hc.1187G>ASubstitution - Missense
ENST00000534231p.K132Kc.396A>GSubstitution - coding silent
MTFR2ENSG00000146410ENST00000451457p.?c.515-9T>CUnknown
POU6F2ENSG00000106536ENST00000403058p.?c.886-2A>TUnknown
POGKENSG00000143157ENST00000367875p.P129Pc.387A>TSubstitution - coding silent
FANCAENSG00000187741ENST00000389301p.I573Mc.1719A>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.S1832Pc.5494T>CSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.S1190Fc.3569C>TSubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.K1722Kc.5166G>ASubstitution - coding silent
FYCO1ENSG00000163820ENST00000296137p.D935Dc.2805C>TSubstitution - coding silent
DARSENSG00000115866ENST00000264161p.F215Sc.644T>CSubstitution - Missense
HSPA4ENSG00000170606ENST00000304858p.T433Ic.1298C>TSubstitution - Missense
SHROOM1ENSG00000164403ENST00000319854p.R587Wc.1759C>TSubstitution - Missense
ATP13A4ENSG00000127249ENST00000342695p.L285Sc.854T>CSubstitution - Missense
ATP13A4ENSG00000127249ENST00000295548p.L285Sc.854T>CSubstitution - Missense
HTR1AENSG00000178394ENST00000323865p.D2Dc.6T>CSubstitution - coding silent
RTN4RL2ENSG00000186907ENST00000335099p.?c.513+9G>AUnknown
ENST00000446478p.A82Tc.244G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.V697Vc.2091C>GSubstitution - coding silent
CELF2ENSG00000048740ENST00000379261p.G264Sc.790G>ASubstitution - Missense
OR56B3PENSG00000180913ENST00000316517p.M124Tc.371T>CSubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.G1450Ec.4349G>ASubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.A129Gc.386C>GSubstitution - Missense
FAM231DENSG00000203815ENST00000369173p.G154Rc.460G>ASubstitution - Missense
ENST00000417177p.T1132Ac.3394A>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.Q3553Qc.10659A>GSubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000344859p.N193Sc.578A>GSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.A1365Tc.4093G>ASubstitution - Missense
LELP1ENSG00000203784ENST00000368747p.P12Pc.36C>ASubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.S763Sc.2289T>CSubstitution - coding silent
ITGA3ENSG00000005884ENST00000320031p.V815Vc.2445C>TSubstitution - coding silent
ARAP2ENSG00000047365ENST00000303965p.K85Rc.254A>GSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.M198Vc.592A>GSubstitution - Missense
HOXA1ENSG00000105991ENST00000343060p.R258Gc.772C>GSubstitution - Missense
ENST00000316490p.H2122Hc.6366C>TSubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.G1337Cc.4009G>TSubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.I943Ic.2829C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.T1127Ac.3379A>GSubstitution - Missense
ARID3AENSG00000116017ENST00000263620p.G368Sc.1102G>ASubstitution - Missense
MED16ENSG00000175221ENST00000312090p.?c.2099-6C>TUnknown
PCMTD1ENSG00000168300ENST00000360540p.Q294*c.880C>TSubstitution - Nonsense
HTTENSG00000197386ENST00000355072p.?c.889+9G>AUnknown
TTNENSG00000155657ENST00000359218p.Y22156Nc.66466T>ASubstitution - Missense
CYBBENSG00000165168ENST00000378588p.?c.337+1G>TUnknown
ALMS1ENSG00000116127ENST00000264448p.T3925Pc.11773A>CSubstitution - Missense
TUBA4AENSG00000127824ENST00000392088p.P57Pc.171T>CSubstitution - coding silent
SGK1ENSG00000118515ENST00000413996p.R212Rc.636G>TSubstitution - coding silent
KLHL2ENSG00000109466ENST00000226725p.N25Sc.74A>GSubstitution - Missense
ALPLENSG00000162551ENST00000374832p.Q477Hc.1431G>TSubstitution - Missense
ENST00000266746p.C59Sc.175T>ASubstitution - Missense
TMEM53ENSG00000126106ENST00000372242p.R121Hc.362G>ASubstitution - Missense
RAD51BENSG00000182185ENST00000487270p.M120Tc.359T>CSubstitution - Missense
ASB7ENSG00000183475ENST00000332783p.L12Pc.35T>CSubstitution - Missense
ENST00000360220p.P166Lc.497C>TSubstitution - Missense
NM_014363.3p.H3381Yc.10141C>TSubstitution - Missense
TMEM229AENSG00000234224ENST00000455783p.R243Rc.729C>GSubstitution - coding silent
DUSP4ENSG00000120875ENST00000240100p.E120Dc.360G>TSubstitution - Missense
TMPRSS11FENSG00000198092ENST00000356291p.N69Yc.205A>TSubstitution - Missense
FAM228BENSG00000219626ENST00000420135p.N166Ic.497A>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.?c.2852-5T>CUnknown
ENST00000381114p.N442Ic.1325A>TSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.M580Ic.1740G>ASubstitution - Missense
NEU2ENSG00000115488ENST00000233840p.T110Mc.329C>TSubstitution - Missense
NAPEPLDENSG00000161048ENST00000341533p.C222Yc.665G>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.T128Tc.384C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
TXNL4BENSG00000140830ENST00000268483p.I134Tc.401T>CSubstitution - Missense
ATAD3AENSG00000197785ENST00000339113p.R315Sc.943C>ASubstitution - Missense
FBXW5ENSG00000159069ENST00000428398p.?c.351+8C>TUnknown
ARHGAP33ENSG00000004777ENST00000378944p.L1089Lc.3265T>CSubstitution - coding silent
ZNRF3ENSG00000183579ENST00000544604p.E877Kc.2629G>ASubstitution - Missense
ANKRD44ENSG00000065413ENST00000337207p.G507Sc.1519G>ASubstitution - Missense
LMAN2LENSG00000114988ENST00000377079p.R101Rc.303G>ASubstitution - coding silent
SLC10A7ENSG00000120519ENST00000394062p.?c.397-10T>GUnknown
RAD51BENSG00000182185ENST00000471583p.M120Tc.359T>CSubstitution - Missense
USP15ENSG00000135655ENST00000393654p.S330Ic.989G>TSubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.?c.1244+8C>TUnknown
UTRNENSG00000152818ENST00000367526p.A939Tc.2815G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.L1517Lc.4551C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000451030p.I310Ic.930T>ASubstitution - coding silent
ENST00000319426p.G53Gc.159C>TSubstitution - coding silent
ZNF687ENSG00000143373ENST00000324048p.I559Vc.1675A>GSubstitution - Missense
GOLPH3LENSG00000143457ENST00000271732p.?c.316-1G>AUnknown
STXBP3ENSG00000116266ENST00000370008p.?c.338-9T>CUnknown
ARL5BENSG00000165997ENST00000377275p.L24Lc.72G>CSubstitution - coding silent
TRIM64BENSG00000189253ENST00000329862p.R78Rc.234A>GSubstitution - coding silent
ITGA3ENSG00000005884ENST00000007722p.V815Vc.2445C>TSubstitution - coding silent
MAPTENSG00000186868ENST00000262410p.A297Pc.889G>CSubstitution - Missense
STX16ENSG00000124222ENST00000361830p.Q277Qc.831G>ASubstitution - coding silent
DOCK8ENSG00000107099ENST00000453981p.L831Lc.2493G>TSubstitution - coding silent
KRTAP1-1ENSG00000188581ENST00000306271p.G110Ec.329G>ASubstitution - Missense
CFLARENSG00000003402ENST00000341222p.E80Dc.240G>TSubstitution - Missense
CXorf30ENSG00000205081ENST00000378657p.A477Tc.1429G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.I1257Ic.3771C>ASubstitution - coding silent
TFCP2L1ENSG00000115112ENST00000263707p.S396Nc.1187G>ASubstitution - Missense
SEMA3AENSG00000075213ENST00000265362p.?c.1361-4A>GUnknown
MEP1AENSG00000112818ENST00000230588p.E116Ec.348G>ASubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.I559Vc.1675A>GSubstitution - Missense
DDIT3ENSG00000175197ENST00000551116p.L113Lc.339G>ASubstitution - coding silent
OR10G9ENSG00000236981ENST00000375024p.I47Ic.141C>ASubstitution - coding silent
CRTAMENSG00000109943ENST00000227348p.V305Fc.913G>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.L78Lc.234C>GSubstitution - coding silent
PMVKENSG00000163344ENST00000368467p.R189Cc.565C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.?c.10212+9A>GUnknown
C3ENSG00000125730ENST00000245907p.A1286Ac.3858C>TSubstitution - coding silent
RAD51AP2ENSG00000214842ENST00000399080p.T1034Ac.3100A>GSubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.R488Rc.1464G>ASubstitution - coding silent
GINS3ENSG00000181938ENST00000318129p.E30Dc.90G>CSubstitution - Missense
PACSIN2ENSG00000100266ENST00000402229p.V324Ic.970G>ASubstitution - Missense
KCTD20ENSG00000112078ENST00000373731p.Q234Qc.702G>ASubstitution - coding silent
DSTENSG00000151914ENST00000370765p.L2133Mc.6397C>ASubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.I300Vc.898A>GSubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.V1817Mc.5449G>ASubstitution - Missense
CWH43ENSG00000109182ENST00000226432p.I360Ic.1080C>TSubstitution - coding silent
MARCH7ENSG00000136536ENST00000259050p.R531*c.1591A>TSubstitution - Nonsense
SHANK2ENSG00000162105ENST00000423696p.V317Vc.951C>GSubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.G524Rc.1570G>ASubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.?c.1760+8C>TUnknown
HERC5ENSG00000138646ENST00000264350p.E894Ac.2681A>CSubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.P41Sc.121C>TSubstitution - Missense
SERPINA5ENSG00000188488ENST00000553780p.V257fs*26c.765delGDeletion - Frameshift
NM_022048p.P82Pc.246A>GSubstitution - coding silent
SDF2ENSG00000132581ENST00000247020p.?c.348+3G>AUnknown
CFLARENSG00000003402ENST00000340870p.E80Dc.240G>TSubstitution - Missense
PSIP1ENSG00000164985ENST00000380716p.T267Tc.801A>GSubstitution - coding silent
PSIP1ENSG00000164985ENST00000380715p.T267Tc.801A>GSubstitution - coding silent
GINS3ENSG00000181938ENST00000426538p.E30Dc.90G>CSubstitution - Missense
USP15ENSG00000135655ENST00000393654p.S330Sc.990C>TSubstitution - coding silent
ANKRD33ENSG00000167612ENST00000340970p.I266Lc.796A>CSubstitution - Missense
KIDINS220ENSG00000134313ENST00000256707p.T1236Mc.3707C>TSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.T504Ac.1510A>GSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.D325Nc.973G>ASubstitution - Missense
LIMK2ENSG00000182541ENST00000340552p.F370Fc.1110C>TSubstitution - coding silent
FBXW7ENSG00000109670ENST00000263981p.K291Kc.873A>GSubstitution - coding silent
FBXW7ENSG00000109670ENST00000296555p.K253Kc.759A>GSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.I1651Lc.4951A>CSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.I1651Lc.4951A>CSubstitution - Missense
TMEM161BENSG00000164180ENST00000296595p.A324Ac.972T>CSubstitution - coding silent
MCHR1ENSG00000128285ENST00000249016p.S56Cc.166A>TSubstitution - Missense
FAM83FENSG00000133477ENST00000333407p.V281Ic.841G>ASubstitution - Missense
NM_152426.2p.?c.17+5C>TUnknown
SGK1ENSG00000118515ENST00000367858p.R293Rc.879G>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000528577p.R226Rc.678G>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000237305p.R198Rc.594G>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000367857p.R188Rc.564G>TSubstitution - coding silent
FAM46AENSG00000112773ENST00000369756p.R11Sc.31C>ASubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.K2093Qc.6277A>CSubstitution - Missense
SYNRGENSG00000006114ENST00000346661p.S935Tc.2804G>CSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.L1092Lc.3274T>CSubstitution - coding silent
FBXW5ENSG00000159069ENST00000325285p.?c.351+8C>TUnknown
PSAT1ENSG00000135069ENST00000376588p.A153Sc.457G>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.R404Sc.1212A>CSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.R404Sc.1212A>CSubstitution - Missense
SHKBP1ENSG00000160410ENST00000291842p.A209Ac.627C>TSubstitution - coding silent
PDE1CENSG00000154678ENST00000396193p.T571Mc.1712C>TSubstitution - Missense
SLITRK4ENSG00000179542ENST00000381779p.P345Hc.1034C>ASubstitution - Missense
SIL1ENSG00000120725ENST00000394817p.P282Lc.845C>TSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.A503Tc.1507G>ASubstitution - Missense
SLC36A3ENSG00000186334ENST00000335230p.V170Mc.508G>ASubstitution - Missense
ZNF786ENSG00000197362ENST00000491431p.S426delSc.1277_1279delCCTDeletion - In frame
PKD1L1ENSG00000158683ENST00000289672p.A6Sc.16G>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.N3954_R3955insNc.11863_11864insACAInsertion - In frame
VPS13BENSG00000132549ENST00000357162p.N3929_R3930insNc.11788_11789insACAInsertion - In frame
ENST00000316490_v65p.H2170Hc.6510C>TSubstitution - coding silent
RNPS1ENSG00000205937ENST00000397086p.?c.227+3G>AUnknown
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
SIN3BENSG00000127511ENST00000379803p.T500Mc.1499C>TSubstitution - Missense
ZNF225ENSG00000256294ENST00000262894p.Q170*c.508C>TSubstitution - Nonsense
SEMG1ENSG00000124233ENST00000372781p.S312Rc.934A>CSubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.E178Dc.534G>TSubstitution - Missense
SLC13A3ENSG00000158296ENST00000339636p.E178Dc.534G>TSubstitution - Missense
ENSG00000267882ENST00000599904p.T163Tc.489T>ASubstitution - coding silent
DDX1ENSG00000079785ENST00000381341p.G273Vc.818G>TSubstitution - Missense
SPECC1LENSG00000100014ENST00000314328p.Q661Kc.1981C>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.N2025Kc.6075C>ASubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.I626Tc.1877T>CSubstitution - Missense
NM_138995p.P1136Sc.3406C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.I310Ic.930T>ASubstitution - coding silent
RFC4ENSG00000163918ENST00000392481p.G253Cc.757G>TSubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.L67Fc.201G>TSubstitution - Missense
LIPHENSG00000163898ENST00000296252p.A180Gc.539C>GSubstitution - Missense
AADATENSG00000109576ENST00000337664p.G362Dc.1085G>ASubstitution - Missense
AADATENSG00000109576ENST00000337664p.Y326Cc.977A>GSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.G1123Ec.3368G>ASubstitution - Missense
GHRENSG00000112964ENST00000230882p.D150Yc.448G>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.Y1243Dc.3727T>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.K458Nc.1374A>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.K458Nc.1374A>TSubstitution - Missense
OR52A1ENSG00000182070ENST00000380367p.T300Ic.899C>TSubstitution - Missense
POLA2ENSG00000014138ENST00000541089p.?c.382+10G>AUnknown
USP15ENSG00000135655ENST00000280377p.S355Ic.1064G>TSubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.V205Lc.613G>TSubstitution - Missense
GOLPH3LENSG00000143457ENST00000427665p.?c.382-1G>AUnknown
SNRPNENSG00000128739ENST00000444203p.D93Yc.277G>TSubstitution - Missense
ENSG00000228157ENST00000443876p.?c.277+4C>TUnknown
KIAA1468ENSG00000134444ENST00000256858p.L71Lc.213C>ASubstitution - coding silent
UPF1ENSG00000005007ENST00000599848p.D838Yc.2512G>TSubstitution - Missense
DGCR14ENSG00000100056ENST00000252137p.E197Dc.591A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K26445Tc.79334A>CSubstitution - Missense
ENST00000356127p.K32815Tc.98444A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y28528Nc.85582T>ASubstitution - Missense
ENST00000356127p.Y28526Nc.85576T>ASubstitution - Missense
NM_003319p.Y22031Nc.66091T>ASubstitution - Missense
ANKRD44ENSG00000065413ENST00000282272p.G524Sc.1570G>ASubstitution - Missense
ALS2CR12ENSG00000155749ENST00000286190p.?c.1211+4C>TUnknown
CFLARENSG00000003402ENST00000309955p.E80Dc.240G>TSubstitution - Missense
PPIL3ENSG00000240344ENST00000286175p.H6Pc.17A>CSubstitution - Missense
EMC8ENSG00000131148ENST00000253457p.?c.308+5G>CUnknown
GPT2ENSG00000166123ENST00000340124p.K293Mc.878A>TSubstitution - Missense
ZNF525ENSG00000203326ENST00000474037p.Y299*c.897C>ASubstitution - Nonsense
ZNRF4ENSG00000105428ENST00000222033p.R40Rc.120G>ASubstitution - coding silent
DNAJC5ENSG00000101152ENST00000360864p.R153Rc.459C>TSubstitution - coding silent
RTEL1ENSG00000258366ENST00000508582p.?c.2924-5T>CUnknown
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.G489Sc.1465G>ASubstitution - Missense
CIDECENSG00000187288ENST00000336832p.L110Hc.329T>ASubstitution - Missense
HADHENSG00000138796ENST00000403312p.?c.877+4G>TUnknown
HADHENSG00000138796ENST00000309522p.?c.826+4G>TUnknown
FRAS1ENSG00000138759ENST00000264895p.I1257Ic.3771C>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000325942p.I1257Ic.3771C>ASubstitution - coding silent
HPSEENSG00000173083ENST00000311412p.N200Nc.600C>TSubstitution - coding silent
LIN54ENSG00000189308ENST00000340417p.L443Lc.1329G>ASubstitution - coding silent
NM_016323.1p.E894Ac.2681A>CSubstitution - Missense
HERC6ENSG00000138642ENST00000264346p.S494Sc.1482T>CSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.L1517Lc.4551C>TSubstitution - coding silent
RBM10ENSG00000182872ENST00000377604p.C761Cc.2283T>CSubstitution - coding silent
CYBBENSG00000165168ENST00000378588p.A113Sc.337G>TSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376423p.M145Vc.433A>GSubstitution - Missense
ZNF749ENSG00000186230ENST00000334181p.A42Vc.125C>TSubstitution - Missense
SLC25A19ENSG00000125454ENST00000320362p.V139Vc.417G>ASubstitution - coding silent
BUB1ENSG00000169679ENST00000302759p.P460Hc.1379C>ASubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-1G>TUnknown
HLTFENSG00000071794ENST00000310053p.S965Cc.2894C>GSubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.E146Ec.438G>ASubstitution - coding silent
SCLT1ENSG00000151466ENST00000281142p.Q138Qc.414G>ASubstitution - coding silent
SCLT1ENSG00000151466ENST00000281142p.Q138Qc.414G>ASubstitution - coding silent
KIAA1244ENSG00000112379ENST00000251691p.S936*c.2807C>ASubstitution - Nonsense
NM_020340.2p.S865*c.2594C>ASubstitution - Nonsense
SUMO4ENSG00000177688ENST00000326669p.R51Rc.153G>ASubstitution - coding silent
ENST00000433511p.P95Lc.284C>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.K1192Rc.3575A>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.?c.612+1G>AUnknown
ARHGAP8ENSG00000241484ENST00000389774p.E437Kc.1309G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.G718Rc.2152G>ASubstitution - Missense
POC5ENSG00000152359ENST00000428202p.A551Sc.1651G>TSubstitution - Missense
POC5ENSG00000152359ENST00000446329p.A526Sc.1576G>TSubstitution - Missense
FAM169AENSG00000198780ENST00000389156p.R650Rc.1950G>TSubstitution - coding silent
HOMER1ENSG00000152413ENST00000334082p.D275Vc.824A>TSubstitution - Missense
GIGYF1ENSG00000146830ENST00000275732p.E392Ec.1176G>ASubstitution - coding silent
ENST00000539430p.E111Ec.333G>ASubstitution - coding silent
PSIP1ENSG00000164985ENST00000380733p.T267Tc.801A>GSubstitution - coding silent
UPRTENSG00000094841ENST00000373379p.Q216Qc.648A>GSubstitution - coding silent
ITM2AENSG00000078596ENST00000373298p.I169Vc.505A>GSubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.A1284Ac.3852G>ASubstitution - coding silent
LYPD1ENSG00000150551ENST00000397463p.G12*c.34G>TSubstitution - Nonsense
DZIP1LENSG00000158163ENST00000327532p.E424Ec.1272G>ASubstitution - coding silent
LRBAENSG00000198589ENST00000357115p.T2136Tc.6408A>GSubstitution - coding silent
SLC10A7ENSG00000120519ENST00000335472p.?c.397-10T>GUnknown
SLC10A7ENSG00000120519ENST00000394059p.?c.397-10T>GUnknown
FBXW7ENSG00000109670ENST00000281708p.K371Kc.1113A>GSubstitution - coding silent
OGDHLENSG00000197444ENST00000374103p.P37Pc.111G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.T1127Ac.3379A>GSubstitution - Missense
POLA2ENSG00000014138ENST00000265465p.?c.1006+10G>AUnknown
MUS81ENSG00000172732ENST00000308110p.A505Ac.1515C>TSubstitution - coding silent
MUS81ENSG00000172732ENST00000308110p.A505Ac.1515C>TSubstitution - coding silent
PRPF3ENSG00000117360ENST00000324862p.A359Sc.1075G>TSubstitution - Missense
ZFYVE9ENSG00000157077ENST00000287727p.Q983Rc.2948A>GSubstitution - Missense
CASC1ENSG00000118307ENST00000320267p.S659Nc.1976G>ASubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.D396Dc.1188T>CSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.L2294Lc.6882G>TSubstitution - coding silent
LELP1ENSG00000203784ENST00000368747p.P12Hc.35C>ASubstitution - Missense
GLDNENSG00000186417ENST00000335449p.G78Wc.232G>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.N193Sc.578A>GSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.N193Sc.578A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R34Qc.101G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.R105Qc.314G>ASubstitution - Missense
OR14A16ENSG00000196772ENST00000357627p.Q98Kc.292C>ASubstitution - Missense
GIPC2ENSG00000137960ENST00000370759p.D160Hc.478G>CSubstitution - Missense
FNTBENSG00000257365ENST00000246166p.A258Vc.773C>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000382108p.P166Lc.497C>TSubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.D2755Nc.8263G>ASubstitution - Missense
SCP2D1ENSG00000132631ENST00000377428p.P97Lc.290C>TSubstitution - Missense
SESTD1ENSG00000187231ENST00000428443p.S55Nc.164G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.F279Fc.837C>TSubstitution - coding silent
RB1CC1ENSG00000023287ENST00000025008p.E1228Kc.3682G>ASubstitution - Missense
ENST00000215591p.A1157Vc.3470C>TSubstitution - Missense
ZNF510ENSG00000081386ENST00000375231p.P431Tc.1291C>ASubstitution - Missense
TRIM47ENSG00000132481ENST00000254816p.A234Tc.700G>ASubstitution - Missense
ENSG00000228157ENST00000428928p.T94Mc.281C>TSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.H572Qc.1716C>GSubstitution - Missense
NM_022046.3p.D250Nc.748G>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.T171Mc.512C>TSubstitution - Missense
SLC4A11ENSG00000088836ENST00000380056p.T144Mc.431C>TSubstitution - Missense
SNTA1ENSG00000101400ENST00000217381p.L121Lc.361T>CSubstitution - coding silent
STX16ENSG00000124222ENST00000371132p.Q256Qc.768G>ASubstitution - coding silent
TSHZ2ENSG00000182463ENST00000371497p.P536Pc.1608C>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.S554Pc.1660T>CSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.S554Pc.1660T>CSubstitution - Missense
TMEM229AENSG00000234224ENST00000455783p.R243Rc.729C>GSubstitution - coding silent
CCDC107ENSG00000159884ENST00000426546p.G180Gc.540C>TSubstitution - coding silent
DOCK8ENSG00000107099ENST00000432829p.L763Lc.2289G>TSubstitution - coding silent
SLC18A1ENSG00000036565ENST00000276373p.S257Sc.771T>GSubstitution - coding silent
C17orf64ENSG00000141371ENST00000269127p.?c.154-9C>AUnknown
TANC2ENSG00000170921ENST00000389520p.G165Ec.494G>ASubstitution - Missense
ENST00000389520_v65p.G165Ec.494G>ASubstitution - Missense
RAB40BENSG00000141542ENST00000571995p.I112Ic.336C>TSubstitution - coding silent
NM_020777.1p.?c.1310+8C>TUnknown
NOD2ENSG00000167207ENST00000300589p.L1014Mc.3040C>ASubstitution - Missense
KRTAP4-8ENSG00000204880ENST00000333822p.C29Yc.86G>ASubstitution - Missense
C4orf19ENSG00000154274ENST00000381980p.E286Ec.858G>ASubstitution - coding silent
C6orf62ENSG00000112308ENST00000378119p.D28Dc.84C>TSubstitution - coding silent
TAS2R38ENSG00000257138ENST00000547270p.L220Lc.660G>TSubstitution - coding silent
NM_014916p.D325Nc.973G>ASubstitution - Missense
DLX6ENSG00000006377ENST00000518156p.A242Vc.725C>TSubstitution - Missense
ZNF394ENSG00000160908ENST00000337673p.D159Dc.477C>TSubstitution - coding silent
KIFC2ENSG00000167702ENST00000301332p.L140Lc.420G>TSubstitution - coding silent
ASAH1ENSG00000104763ENST00000262097p.D30Nc.88G>ASubstitution - Missense
ASAH1ENSG00000104763ENST00000314146p.D46Nc.136G>ASubstitution - Missense
MAPK4ENSG00000141639ENST00000400384p.K291Nc.873G>TSubstitution - Missense
KIAA1468ENSG00000134444ENST00000398130p.L71Lc.213C>ASubstitution - coding silent
GREB1LENSG00000141449ENST00000424526p.?c.833-9G>AUnknown
ENST00000404449p.?c.836-9G>AUnknown
KIR3DL2ENSG00000240403ENST00000326321p.C293Wc.879C>GSubstitution - Missense
DUSP15ENSG00000149599ENST00000278979p.A241Ac.723G>ASubstitution - coding silent
PDE1CENSG00000154678ENST00000396184p.T511Mc.1532C>TSubstitution - Missense
DLX6ENSG00000006377ENST00000007660p.A214Vc.641C>TSubstitution - Missense
FABP1ENSG00000163586ENST00000295834p.E62Kc.184G>ASubstitution - Missense
C1orf116ENSG00000182795ENST00000359470p.D285Vc.854A>TSubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.K266Qc.796A>CSubstitution - Missense
NFE2ENSG00000123405ENST00000312156p.T359Nc.1076C>ASubstitution - Missense
TAS2R30ENSG00000256188ENST00000539585p.S10Fc.29C>TSubstitution - Missense
ENST00000422992p.S10Fc.29C>TSubstitution - Missense
NRP1ENSG00000099250ENST00000265371p.?c.1925-4G>TUnknown
KIF5BENSG00000170759ENST00000302418p.Q928Kc.2782C>ASubstitution - Missense
ZNF487ENSG00000243660ENST00000431662p.?c.1030+5G>AUnknown
WNT9AENSG00000143816ENST00000272164p.A274Ac.822C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.L3Lc.9G>TSubstitution - coding silent
ENST00000412131p.L3Lc.9G>TSubstitution - coding silent
WNT3AENSG00000154342ENST00000366753p.?c.1056-4G>AUnknown
ZMIZ1ENSG00000108175ENST00000334512p.V761Vc.2283G>TSubstitution - coding silent
KIF20BENSG00000138182ENST00000260753p.E375Kc.1123G>ASubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.E375Kc.1123G>ASubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.R953Hc.2858G>ASubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.R1023Hc.3068G>ASubstitution - Missense
TNKS2ENSG00000107854ENST00000371627p.G466Gc.1398C>ASubstitution - coding silent
PHF21AENSG00000135365ENST00000418153p.?c.1682-5_1695>16Unknown
PHF21AENSG00000135365ENST00000323180p.?c.1544-5_1557>16Unknown
INSRRENSG00000027644ENST00000368195p.C12Cc.36C>TSubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.C12Cc.36C>TSubstitution - coding silent
NM_024779.3p.Y189Yc.567C>TSubstitution - coding silent
DDIT3ENSG00000175197ENST00000547303p.L90Lc.270G>ASubstitution - coding silent
NM_006313.1p.S326Ic.977G>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.H242Yc.724C>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.H242Yc.724C>TSubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.?c.130-10C>GUnknown
IL16ENSG00000172349ENST00000302987p.V956Lc.2866G>TSubstitution - Missense
NM_172217.1p.V910Lc.2728G>TSubstitution - Missense
SH3GL3ENSG00000140600ENST00000324537p.F304fs*1c.910_911delTTDeletion - Frameshift
SH3GL3ENSG00000140600ENST00000427482p.F296fs*1c.886_887delTTDeletion - Frameshift
CALYENSG00000130643ENST00000252939p.V99Mc.295G>ASubstitution - Missense
RNASE13ENSG00000206150ENST00000382951p.R41Gc.121A>GSubstitution - Missense
RNASE6ENSG00000169413ENST00000304677p.Q63Rc.188A>GSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.P107Sc.319C>TSubstitution - Missense
OR52B1PENSG00000180909ENST00000316506p.G165Vc.494G>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000357171p.V108Vc.324C>GSubstitution - coding silent
PLXNC1ENSG00000136040ENST00000258526p.V710Ac.2129T>CSubstitution - Missense
LDB1ENSG00000198728ENST00000425280p.A409Vc.1226C>TSubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.I1583Tc.4748T>CSubstitution - Missense
ZBTB44ENSG00000196323ENST00000397753p.T283Tc.849C>TSubstitution - coding silent
ENST00000338191p.T283Tc.849C>TSubstitution - coding silent
ENST00000321016_v61p.E1068Kc.3202G>ASubstitution - Missense
IGSF9BENSG00000080854ENST00000321016p.E524Kc.1570G>ASubstitution - Missense
OTOGENSG00000188162ENST00000399397p.P1167Lc.3500C>TSubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.R614Rc.1842G>ASubstitution - coding silent
BRINP2ENSG00000198797ENST00000361539p.L131Mc.391C>ASubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.T41Tc.123G>TSubstitution - coding silent
TRHDEENSG00000072657ENST00000261180p.R363Tc.1088G>CSubstitution - Missense
C1SENSG00000182326ENST00000328916p.E687Ec.2061G>ASubstitution - coding silent
WDR47ENSG00000085433ENST00000369965p.V198Lc.592G>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.L78Lc.234C>GSubstitution - coding silent
ZBTB41ENSG00000177888ENST00000367405p.H395Hc.1185C>TSubstitution - coding silent
ACSM2BENSG00000066813ENST00000329697p.K525Kc.1575G>ASubstitution - coding silent
BMI1ENSG00000168283ENST00000376663p.T41Tc.123G>ASubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377369p.V484Vc.1452G>ASubstitution - coding silent
CUBNENSG00000107611ENST00000377833p.P1184Hc.3551C>ASubstitution - Missense
RAD51BENSG00000182185ENST00000488612p.M120Tc.359T>CSubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.K691Nc.2073G>CSubstitution - Missense
NM_001271.1p.K691Nc.2073G>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