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RERF-GC-1B - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

738 mutations reported
293 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
ARNT2ENSG00000172379ENST00000303329p.R414Cc.1240C>TSubstitution - Missense
PAWRENSG00000177425ENST00000328827p.?c.917_936+13del33Unknown
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
LRRIQ1ENSG00000133640ENST00000393217p.?c.4210-7T>CUnknown
ZNF140ENSG00000196387ENST00000355557p.?c.10-10G>AUnknown
TP53BP2ENSG00000143514ENST00000343537p.G842Rc.2524G>ASubstitution - Missense
ALPLENSG00000162551ENST00000374832p.A177Tc.529G>ASubstitution - Missense
ESRRGENSG00000196482ENST00000408911p.T291Tc.873G>ASubstitution - coding silent
RGRENSG00000148604ENST00000359452p.F145Fc.435C>TSubstitution - coding silent
ENST00000381852p.?c.36+6T>AUnknown
PPP1CCENSG00000186298ENST00000340766p.L90Lc.270T>CSubstitution - coding silent
PPP1CCENSG00000186298ENST00000335007p.L90Lc.270T>CSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.K1293*c.3877A>TSubstitution - Nonsense
ANKRD30AENSG00000148513ENST00000602533p.K1293*c.3877A>TSubstitution - Nonsense
ITGB1ENSG00000150093ENST00000396033p.C35Cc.105T>CSubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.?c.2664-2A>TUnknown
USP30ENSG00000135093ENST00000257548p.?c.721-1G>AUnknown
SELPLGENSG00000110876ENST00000550948p.S367Sc.1101C>TSubstitution - coding silent
ZFAND3ENSG00000156639ENST00000287218p.?c.361+8C>TUnknown
ERBB3ENSG00000065361ENST00000267101p.E981Qc.2941G>CSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.E981Qc.2941G>CSubstitution - Missense
DGKAENSG00000065357ENST00000331886p.L450Fc.1350G>TSubstitution - Missense
IRAK4ENSG00000198001ENST00000448290p.R183Qc.548G>ASubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.P277Pc.831C>TSubstitution - coding silent
CCDC62ENSG00000130783ENST00000253079p.A639Vc.1916C>TSubstitution - Missense
CCDC62ENSG00000130783ENST00000341952p.A639Vc.1916C>TSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.G2000Gc.6000C>TSubstitution - coding silent
TBATAENSG00000166220ENST00000299290p.F49Fc.147C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.R213*c.637C>TSubstitution - Nonsense
ENST00000414315p.R81*c.241C>TSubstitution - Nonsense
KCNA10ENSG00000143105ENST00000369771p.I166Ic.498C>ASubstitution - coding silent
CLDN9ENSG00000213937ENST00000445369p.R194Hc.581G>ASubstitution - Missense
ENST00000545858p.R120*c.358C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.R213*c.637C>TSubstitution - Nonsense
ZNF365ENSG00000138311ENST00000395254p.R235Cc.703C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.H112Pc.335A>CSubstitution - Missense
ENST00000417177p.H117Pc.350A>CSubstitution - Missense
ENST00000398860p.N249Nc.747C>TSubstitution - coding silent
ENST00000398860p.K1047Mc.3140A>TSubstitution - Missense
NFYCENSG00000066136ENST00000447388p.R252Rc.756C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000352115p.A542Sc.1624G>TSubstitution - Missense
ANPEPENSG00000166825ENST00000300060p.A191Ac.573G>ASubstitution - coding silent
ENST00000238613p.A65Tc.193G>ASubstitution - Missense
VRTNENSG00000133980ENST00000256362p.S139Sc.417T>CSubstitution - coding silent
AREL1ENSG00000119682ENST00000356357p.E231Qc.691G>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.Y462Cc.1385A>GSubstitution - Missense
ENST00000417177p.Y467Cc.1400A>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.Y467Cc.1400A>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.N1541Nc.4623C>TSubstitution - coding silent
ENST00000426033p.V444Vc.1332G>ASubstitution - coding silent
CACNB2ENSG00000165995ENST00000377329p.A512Sc.1534G>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000396576p.A511Sc.1531G>TSubstitution - Missense
MKXENSG00000150051ENST00000375790p.S335Sc.1005G>ASubstitution - coding silent
GJA5ENSG00000143140ENST00000369237p.L333Fc.997C>TSubstitution - Missense
MTORENSG00000198793ENST00000361445p.A1884Ac.5652C>ASubstitution - coding silent
ACTL8ENSG00000117148ENST00000375406p.A20Ac.60C>TSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.L664Fc.1992G>TSubstitution - Missense
NXPE1ENSG00000095110ENST00000251921p.L358Fc.1072C>TSubstitution - Missense
C1QTNF5ENSG00000223953ENST00000528368p.T223Tc.669A>CSubstitution - coding silent
B4GALNT3ENSG00000139044ENST00000266383p.F928Fc.2784C>TSubstitution - coding silent
NM_004667.3p.L3125Lc.9375C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.S3003Lc.9008C>TSubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.V58Lc.172G>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.P1795Sc.5383C>TSubstitution - Missense
FCER1GENSG00000158869ENST00000289902p.P85Pc.255A>GSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.L184Pc.551T>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.L184Pc.551T>CSubstitution - Missense
TNNENSG00000120332ENST00000239462p.R1157Wc.3469C>TSubstitution - Missense
EPB41ENSG00000159023ENST00000349460p.H321Yc.961C>TSubstitution - Missense
DLGAP3ENSG00000116544ENST00000373347p.S431Sc.1293C>TSubstitution - coding silent
MEGF6ENSG00000162591ENST00000356575p.R1504Qc.4511G>ASubstitution - Missense
BAG3ENSG00000151929ENST00000369085p.E553Dc.1659A>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.Y1039Hc.3115T>CSubstitution - Missense
ENDOUENSG00000111405ENST00000229003p.I325Ic.975C>TSubstitution - coding silent
KDM2AENSG00000173120ENST00000529006p.R760Qc.2279G>ASubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.?c.1918-10C>TUnknown
ITGBL1ENSG00000198542ENST00000376180p.S227fs*180c.680delGDeletion - Frameshift
METAP2ENSG00000111142ENST00000323666p.?c.152-1G>AUnknown
C14orf79ENSG00000140104ENST00000547315p.L47Lc.139C>TSubstitution - coding silent
ADSSL1ENSG00000185100ENST00000332972p.I350fs*25c.1048delADeletion - Frameshift
OR5B12ENSG00000172362ENST00000302572p.P260Sc.778C>TSubstitution - Missense
REC8ENSG00000100918ENST00000311457p.?c.1448+9G>AUnknown
JPH4ENSG00000092051ENST00000356300p.D516Dc.1548T>CSubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.E493Gc.1478A>GSubstitution - Missense
CMTM5ENSG00000166091ENST00000359320p.A123Ac.369T>ASubstitution - coding silent
CMTM5ENSG00000166091ENST00000339180p.A190Ac.570T>ASubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.E1536Ec.4608G>ASubstitution - coding silent
PSMA4ENSG00000041357ENST00000044462p.I11Vc.31A>GSubstitution - Missense
UROSENSG00000188690ENST00000368786p.?c.245-3C>TUnknown
ADARB2ENSG00000185736ENST00000381312p.G95Cc.283G>TSubstitution - Missense
MTG1ENSG00000148824ENST00000317502p.N153Nc.459C>TSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.L2376Ic.7126C>ASubstitution - Missense
OR11H12ENSG00000257115ENST00000550708p.C34*c.102T>ASubstitution - Nonsense
C12orf44ENSG00000123395ENST00000336854p.R66Hc.197G>ASubstitution - Missense
KCNA1ENSG00000111262ENST00000382545p.Q20Qc.60G>ASubstitution - coding silent
HAPLN3ENSG00000140511ENST00000359595p.D290fs*>71c.870delTDeletion - Frameshift
ALPK3ENSG00000136383ENST00000258888p.P1743Pc.5229G>TSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.P1743Pc.5229G>TSubstitution - coding silent
CADPSENSG00000163618ENST00000383710p.L273Hc.818T>ASubstitution - Missense
FLNBENSG00000136068ENST00000490882p.D190Dc.570C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.D190Dc.570C>TSubstitution - coding silent
CCDC66ENSG00000180376ENST00000394672p.E286Kc.856G>ASubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.K294Nc.882A>TSubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.K177Nc.531A>TSubstitution - Missense
ENST00000370795p.P78Pc.234C>TSubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.E381Qc.1141G>CSubstitution - Missense
ENST00000344073p.E44fs*47c.130_133delGAGADeletion - Frameshift
COPS3ENSG00000141030ENST00000268717p.R389Rc.1167G>ASubstitution - coding silent
ZNF98ENSG00000197360ENST00000357774p.N73fs*2c.218delADeletion - Frameshift
ZNF98ENSG00000197360ENST00000357774p.N73fs*2c.218delADeletion - Frameshift
ZNF492ENSG00000229676ENST00000456783p.N32fs*2c.94delADeletion - Frameshift
POLRMTENSG00000099821ENST00000588649p.V429Mc.1285G>ASubstitution - Missense
CUL4BENSG00000158290ENST00000371322p.E559Ac.1676A>CSubstitution - Missense
CUL4BENSG00000158290ENST00000404115p.E577Ac.1730A>CSubstitution - Missense
PCP2ENSG00000174788ENST00000311069p.R37Qc.110G>ASubstitution - Missense
XKR4ENSG00000206579ENST00000327381p.L334Lc.1002C>GSubstitution - coding silent
PLS3ENSG00000102024ENST00000355899p.K187delKc.553_555delAAGDeletion - In frame
CPA6ENSG00000165078ENST00000297770p.Y37Hc.109T>CSubstitution - Missense
ENST00000215591p.V414Mc.1240G>ASubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.H762Hc.2286T>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R297Qc.890G>ASubstitution - Missense
ENST00000356127p.R297Qc.890G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R297Qc.890G>ASubstitution - Missense
ENST00000446427p.E514Ec.1542G>ASubstitution - coding silent
PKD1L2ENSG00000166473ENST00000337114p.?c.2911-2A>GUnknown
SPAG7ENSG00000091640ENST00000206020p.Q143Qc.429G>ASubstitution - coding silent
MACROD2ENSG00000172264ENST00000378058p.A127Ac.381C>TSubstitution - coding silent
BUB1BENSG00000156970ENST00000287598p.M396Lc.1186A>CSubstitution - Missense
LIFRENSG00000113594ENST00000263409p.N340Nc.1020T>CSubstitution - coding silent
MSLNENSG00000102854ENST00000382862p.E514Ec.1542G>ASubstitution - coding silent
ADCK1ENSG00000063761ENST00000238561p.?c.423+3_423+14delacccacctttgcUnknown
PAQR7ENSG00000182749ENST00000374296p.L307Vc.919C>GSubstitution - Missense
BCL10ENSG00000142867ENST00000370580p.T162Mc.485C>TSubstitution - Missense
SSX2IPENSG00000117155ENST00000342203p.L432Vc.1294C>GSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.T631Ac.1891A>GSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.?c.2822-7T>CUnknown
DNAH10ENSG00000197653ENST00000409039p.E3098Kc.9292G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.A523Vc.1568C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.Y2985Cc.8954A>GSubstitution - Missense
ENST00000298047_v61p.Y2985Cc.8954A>GSubstitution - Missense
PRAMEF11ENSG00000204513ENST00000535591p.M1Lc.1A>CSubstitution - Missense
CHSY1ENSG00000131873ENST00000254190p.L782Lc.2344C>TSubstitution - coding silent
C1orf43ENSG00000143612ENST00000368521p.A192Vc.575C>TSubstitution - Missense
C1orf43ENSG00000143612ENST00000350592p.A158Vc.473C>TSubstitution - Missense
ATP8B2ENSG00000143515ENST00000368489p.V1108Vc.3324C>TSubstitution - coding silent
IVLENSG00000163207ENST00000368764p.Q31Qc.93G>ASubstitution - coding silent
ENSG00000177340ENST00000313737p.N126Yc.376A>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.H791Hc.2373C>TSubstitution - coding silent
ZFYVE9ENSG00000157077ENST00000287727p.G253Sc.757G>ASubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.F49Fc.147T>CSubstitution - coding silent
KLHDC1ENSG00000197776ENST00000359332p.L263Lc.787C>TSubstitution - coding silent
FAM179BENSG00000198718ENST00000361577p.L418Lc.1254G>CSubstitution - coding silent
KIAA1551ENSG00000174718ENST00000312561p.K1520Ec.4558A>GSubstitution - Missense
CSDE1ENSG00000009307ENST00000369530p.I402Mc.1206T>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.R3210Hc.9629G>ASubstitution - Missense
TADA1ENSG00000152382ENST00000367874p.S120*c.359C>GSubstitution - Nonsense
STRCENSG00000242866ENST00000450892p.R1602Qc.4805G>ASubstitution - Missense
CST6ENSG00000175315ENST00000312134p.T90Sc.268A>TSubstitution - Missense
CFL1ENSG00000172757ENST00000308162p.A157Ac.471C>TSubstitution - coding silent
TET1ENSG00000138336ENST00000373644p.N265Dc.793A>GSubstitution - Missense
ZNF365ENSG00000138311ENST00000395255p.Q14Hc.42G>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.R235Cc.703C>TSubstitution - Missense
BDH1ENSG00000161267ENST00000392378p.S219Lc.656C>TSubstitution - Missense
ENST00000405167p.S1018Cc.3053C>GSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.L427Vc.1279C>GSubstitution - Missense
XDHENSG00000158125ENST00000379416p.H1221Rc.3662A>GSubstitution - Missense
AXIN1ENSG00000103126ENST00000262320p.?c.879-5T>CUnknown
ARFGAP1ENSG00000101199ENST00000370275p.I41Vc.121A>GSubstitution - Missense
ZNF160ENSG00000170949ENST00000429604p.R799Gc.2395A>GSubstitution - Missense
ZNF347ENSG00000197937ENST00000334197p.G815Gc.2445G>ASubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.L480Vc.1438T>GSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.G415Rc.1243G>CSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.F830Lc.2490C>ASubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.Y689Yc.2067C>TSubstitution - coding silent
ACSF3ENSG00000176715ENST00000317447p.D475Ec.1425C>ASubstitution - Missense
CEP97ENSG00000182504ENST00000341893p.L109Lc.327G>ASubstitution - coding silent
CEP97ENSG00000182504ENST00000327230p.L109Lc.327G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.R1472fs*3c.4406_4410delAAAAGDeletion - Frameshift
ANKRD36ENSG00000135976ENST00000461153p.R1275fs*3c.3815_3819delAAAAGDeletion - Frameshift
ANKRD36ENSG00000135976ENST00000420699p.K1470Kc.4410G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.K1273Kc.3819G>ASubstitution - coding silent
BOLLENSG00000152430ENST00000321801p.T144Tc.432T>GSubstitution - coding silent
FAM83HENSG00000180921ENST00000388913p.R174Rc.522G>TSubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.L1242Vc.3724C>GSubstitution - Missense
PLECENSG00000178209ENST00000322810p.P602Pc.1806G>CSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.P465Pc.1395G>CSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.R727Rc.2181G>TSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.R727Rc.2181G>TSubstitution - coding silent
HIST1H3FENSG00000256316ENST00000446824p.A22Tc.64G>ASubstitution - Missense
HIST1H3CENSG00000196532ENST00000540144p.L62Lc.186G>ASubstitution - coding silent
TPMTENSG00000137364ENST00000309983p.?c.1delAUnknown
NRSN1ENSG00000152954ENST00000378491p.F154fs*>42c.460delTDeletion - Frameshift
N6AMT1ENSG00000156239ENST00000303775p.A7Gc.20C>GSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.L582Sc.1745T>CSubstitution - Missense
LIMCH1ENSG00000064042ENST00000313860p.A501Gc.1502C>GSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.A886Gc.2657C>GSubstitution - Missense
ENST00000404649p.V22_Q23insHLHFLVc.61_62ins18Insertion - In frame
ENST00000273600p.I4033Ic.12099C>ASubstitution - coding silent
MT1GENSG00000125144ENST00000444837p.G47Dc.140G>ASubstitution - Missense
MT1GENSG00000125144ENST00000379811p.G48Dc.143G>ASubstitution - Missense
CES5AENSG00000159398ENST00000521992p.I572Tc.1715T>CSubstitution - Missense
CES5AENSG00000159398ENST00000319165p.I493Tc.1478T>CSubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.L1191Rc.3572T>GSubstitution - Missense
LONP2ENSG00000102910ENST00000285737p.G769Ec.2306G>ASubstitution - Missense
ORMDL3ENSG00000172057ENST00000394169p.K152Nc.456G>CSubstitution - Missense
SOCS7ENSG00000174111ENST00000577233p.D292Hc.874G>CSubstitution - Missense
ENST00000420871_v68p.K332Mc.995A>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000295246p.K502Mc.1505A>TSubstitution - Missense
DCKENSG00000156136ENST00000286648p.I26Ic.78C>TSubstitution - coding silent
FRG2CENSG00000172969ENST00000308062p.Q198Kc.592C>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.Q915Hc.2745G>CSubstitution - Missense
RRP1BENSG00000160208ENST00000340648p.K107Nc.321A>CSubstitution - Missense
ENST00000332012p.A244Sc.730G>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.T179Tc.537T>ASubstitution - coding silent
THOC1ENSG00000079134ENST00000261600p.P369Pc.1107C>TSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000429416p.Q915Hc.2745G>CSubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.T337Mc.1010C>TSubstitution - Missense
CACNG5ENSG00000075429ENST00000169565p.I120Ic.360C>TSubstitution - coding silent
CACNG5ENSG00000075429ENST00000533854p.I120Ic.360C>TSubstitution - coding silent
NBNENSG00000104320ENST00000265433p.F659Fc.1977T>CSubstitution - coding silent
STMN4ENSG00000015592ENST00000350889p.R183Rc.549G>ASubstitution - coding silent
LOXL2ENSG00000134013ENST00000389131p.S29Sc.87C>TSubstitution - coding silent
ENST00000375112p.I96_V97>Mc.288_290delAGTComplex - deletion inframe
ENST00000375112p.V97Mc.289G>ASubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.C904Yc.2711G>ASubstitution - Missense
FAM189A2ENSG00000135063ENST00000257515p.E369delEc.1102_1104delGAGDeletion - In frame
ZBBXENSG00000169064ENST00000455345p.H162Hc.486C>TSubstitution - coding silent
HKR1ENSG00000181666ENST00000324411p.K107Tc.320A>CSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.P839Pc.2517G>TSubstitution - coding silent
C2orf61ENSG00000239605ENST00000445927p.S198Cc.593C>GSubstitution - Missense
TBC1D31ENSG00000156787ENST00000287380p.?c.1884+10C>AUnknown
LAMA1ENSG00000101680ENST00000389658p.?c.8208-5C>TUnknown
MGAT3ENSG00000128268ENST00000341184p.P55Pc.165G>TSubstitution - coding silent
RWDD1ENSG00000111832ENST00000466444p.I165Tc.494T>CSubstitution - Missense
P4HA2ENSG00000072682ENST00000379100p.S108Pc.322T>CSubstitution - Missense
TERTENSG00000164362ENST00000310581p.C982Cc.2946T>CSubstitution - coding silent
DMXL1ENSG00000172869ENST00000311085p.H914Rc.2741A>GSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.E1032Qc.3094G>CSubstitution - Missense
CKMT2ENSG00000131730ENST00000254035p.?c.756-4T>AUnknown
SOGA2ENSG00000168502ENST00000359865p.R592Qc.1775G>ASubstitution - Missense
NUP210ENSG00000132182ENST00000254508p.H1227Qc.3681C>GSubstitution - Missense
ACPPENSG00000014257ENST00000351273p.L258Lc.774C>TSubstitution - coding silent
TMEM43ENSG00000170876ENST00000306077p.V89Mc.265G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.D2418Gc.7253A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.D2418Gc.7253A>GSubstitution - Missense
CYP4V2ENSG00000145476ENST00000378802p.R272Wc.814C>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000308893p.R341Qc.1022G>ASubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.V126Mc.376G>ASubstitution - Missense
FCHO1ENSG00000130475ENST00000252771p.N800Tc.2399A>CSubstitution - Missense
XM_291322.3p.E73Qc.217G>CSubstitution - Missense
NCANENSG00000130287ENST00000252575p.Q1036*c.3106C>TSubstitution - Nonsense
IL4RENSG00000077238ENST00000395762p.D137Nc.409G>ASubstitution - Missense
PNISRENSG00000132424ENST00000369239p.I141Mc.423A>GSubstitution - Missense
COL28A1ENSG00000215018ENST00000399429p.V898Vc.2694G>CSubstitution - coding silent
FBLN1ENSG00000077942ENST00000327858p.D173Nc.517G>ASubstitution - Missense
FBLN1ENSG00000077942ENST00000262722p.D173Nc.517G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.P490Pc.1470G>ASubstitution - coding silent
SRSF3ENSG00000112081ENST00000339436p.?c.342-1G>CUnknown
GKN1ENSG00000169605ENST00000377938p.L89Lc.267C>TSubstitution - coding silent
AFTPHENSG00000119844ENST00000238856p.K288Rc.863A>GSubstitution - Missense
CCT4ENSG00000115484ENST00000394440p.V390Fc.1168G>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.D2713Gc.8138A>GSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.R1481Cc.4441C>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.Q1546Qc.4638G>ASubstitution - coding silent
STEAP4ENSG00000127954ENST00000380079p.R237Lc.710G>TSubstitution - Missense
CHCHD5ENSG00000125611ENST00000324913p.C79Yc.236G>ASubstitution - Missense
MAGEB6ENSG00000176746ENST00000379034p.K165Kc.495A>GSubstitution - coding silent
TXLNGENSG00000086712ENST00000380122p.I465_A468delIKAAc.1379_1390del12Deletion - In frame
SCML2ENSG00000102098ENST00000251900p.S264*c.791C>ASubstitution - Nonsense
SLC9A9ENSG00000181804ENST00000316549p.A346Tc.1036G>ASubstitution - Missense
REG1AENSG00000115386ENST00000233735p.R54Hc.161G>ASubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.K603Rc.1808A>GSubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.E1336Kc.4006G>ASubstitution - Missense
SQSTM1ENSG00000161011ENST00000389805p.C289Yc.866G>ASubstitution - Missense
ITGA9ENSG00000144668ENST00000264741p.T227Mc.680C>TSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.D826Nc.2476G>ASubstitution - Missense
CCDC113ENSG00000103021ENST00000219299p.?c.391-7C>TUnknown
CDH3ENSG00000062038ENST00000429102p.P148Pc.444G>ASubstitution - coding silent
BCL2L11ENSG00000153094ENST00000393253p.?c.229-2A>GUnknown
RANBP2ENSG00000153201ENST00000283195p.S1699_T1709>10c.5091_5126>33Unknown
MRPS9ENSG00000135972ENST00000258455p.D327Dc.981C>TSubstitution - coding silent
FHL2ENSG00000115641ENST00000409177p.G48Sc.142G>ASubstitution - Missense
TMEM190ENSG00000160472ENST00000291934p.T138Mc.413C>TSubstitution - Missense
UBA1ENSG00000130985ENST00000377351p.K268Nc.804A>CSubstitution - Missense
UBA1ENSG00000130985ENST00000442035p.K282Nc.846A>CSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000433686p.A540Vc.1619C>TSubstitution - Missense
UBXN8ENSG00000104691ENST00000265616p.V7Ic.19G>ASubstitution - Missense
NM_016323.1p.D595Dc.1785C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H3757Qc.11271C>GSubstitution - Missense
ENST00000405167p.D3757Ec.11271C>GSubstitution - Missense
NR6A1ENSG00000148200ENST00000487099p.S199fs*2c.592_593ins22Insertion - Frameshift
FIBCD1ENSG00000130720ENST00000372338p.V357Lc.1069G>CSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.D1011Nc.3031G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.D1011Nc.3031G>ASubstitution - Missense
LRRC15ENSG00000172061ENST00000347624p.A352Tc.1054G>ASubstitution - Missense
UTS2BENSG00000188958ENST00000340524p.K110Rc.329A>GSubstitution - Missense
ATP13A4ENSG00000127249ENST00000295548p.G183Gc.549G>ASubstitution - coding silent
DGKGENSG00000058866ENST00000265022p.H764Dc.2290C>GSubstitution - Missense
FAM49AENSG00000197872ENST00000381323p.S96Sc.288C>TSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.S1297Pc.3889T>CSubstitution - Missense
ENST00000355850p.R155Cc.463C>TSubstitution - Missense
GAPVD1ENSG00000165219ENST00000394105p.P1444Pc.4332A>GSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.Y377Fc.1130A>TSubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.Q169Qc.507G>ASubstitution - coding silent
SLC13A3ENSG00000158296ENST00000279027p.P255Pc.765T>CSubstitution - coding silent
ZSWIM1ENSG00000168612ENST00000372523p.L258Lc.774C>TSubstitution - coding silent
SNX21ENSG00000124104ENST00000491381p.G28Ec.83G>ASubstitution - Missense
PSG6ENSG00000170848ENST00000187910p.D174Nc.520G>ASubstitution - Missense
FITM2ENSG00000197296ENST00000396825p.S112Sc.336C>TSubstitution - coding silent
EMILIN3ENSG00000183798ENST00000332312p.P290Lc.869C>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.Q1624Pc.4871A>CSubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.S516Cc.1547C>GSubstitution - Missense
CASKIN1ENSG00000167971ENST00000343516p.P141Pc.423G>ASubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
ZFPM2ENSG00000169946ENST00000407775p.E23Dc.69G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.P1344Tc.4030C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.P1362Tc.4084C>ASubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.R85Qc.254G>ASubstitution - Missense
ST7ENSG00000004866ENST00000393451p.?c.1337-7T>CUnknown
NOS3ENSG00000164867ENST00000297494p.?c.2324+9G>AUnknown
DGKBENSG00000136267ENST00000403951p.P362Lc.1085C>TSubstitution - Missense
NMUR2ENSG00000132911ENST00000255262p.A302Tc.904G>ASubstitution - Missense
OR2W1ENSG00000204704ENST00000377175p.D89Gc.266A>GSubstitution - Missense
RINT1ENSG00000135249ENST00000257700p.I690Vc.2068A>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.V319Lc.955G>CSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.H649Hc.1947C>TSubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.S667fs*73c.1998delCDeletion - Frameshift
PCDHB14ENSG00000120327ENST00000239449p.R715Rc.2145G>ASubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.P621Sc.1861C>TSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.E873Kc.2617G>ASubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.P71Pc.213G>ASubstitution - coding silent
ROR2ENSG00000169071ENST00000375708p.E703Dc.2109G>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S4652Lc.13955C>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.?c.2398+8C>AUnknown
STK17AENSG00000164543ENST00000319357p.N353Hc.1057A>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.G2026Gc.6078A>GSubstitution - coding silent
SLC6A8ENSG00000130821ENST00000253122p.D505Dc.1515C>TSubstitution - coding silent
OBP2AENSG00000122136ENST00000340780p.C74Yc.221G>ASubstitution - Missense
GTF3C5ENSG00000148308ENST00000372097p.R435Wc.1303C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000372050p.R553Qc.1658G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.V994Ic.2980G>ASubstitution - Missense
TLE4ENSG00000106829ENST00000376520p.P365Pc.1095C>TSubstitution - coding silent
MAMDC4ENSG00000177943ENST00000317446p.A958Tc.2872G>ASubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.A1037Tc.3109G>ASubstitution - Missense
MCCC1ENSG00000078070ENST00000265594p.?c.639+2T>AUnknown
UCK1ENSG00000130717ENST00000372215p.L262Pc.785T>CSubstitution - Missense
KIAA0141ENSG00000081791ENST00000194118p.L357Lc.1071C>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.M110Tc.329T>CSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.S798Sc.2394C>TSubstitution - coding silent
HEATR6ENSG00000068097ENST00000184956p.K334Ec.1000A>GSubstitution - Missense
NOGENSG00000183691ENST00000332822p.L123Lc.369A>GSubstitution - coding silent
ZBBXENSG00000169064ENST00000392766p.H162Hc.486C>TSubstitution - coding silent
CCDC17ENSG00000159588ENST00000343901p.T252Ac.754A>GSubstitution - Missense
GJA8ENSG00000121634ENST00000369235p.G119Ec.356G>ASubstitution - Missense
ITGB1ENSG00000150093ENST00000423113p.C35Cc.105T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.T3798Tc.11394G>ASubstitution - coding silent
ENST00000325084p.P277Pc.831C>TSubstitution - coding silent
CDC42BPBENSG00000198752ENST00000361246p.?c.892-2A>GUnknown
CDH23ENSG00000107736ENST00000398809p.N244Nc.732C>TSubstitution - coding silent
CCDC66ENSG00000180376ENST00000436465p.E286Kc.856G>ASubstitution - Missense
BUB1BENSG00000156970ENST00000412359p.M410Lc.1228A>CSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.T3473Sc.10418C>GSubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.D215Gc.644A>GSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.E761Ec.2283G>ASubstitution - coding silent
ENST00000421549p.V643Vc.1929A>GSubstitution - coding silent
CDH1ENSG00000039068ENST00000261769p.I250Nc.749T>ASubstitution - Missense
SLC16A10ENSG00000112394ENST00000368851p.S210Sc.630C>TSubstitution - coding silent
NOD2ENSG00000167207ENST00000300589p.A616Pc.1846G>CSubstitution - Missense
KANSL3ENSG00000114982ENST00000431828p.S606Sc.1818G>ASubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.T179Tc.537T>ASubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.A1277Tc.3829G>ASubstitution - Missense
CDC16ENSG00000130177ENST00000360383p.L193Pc.578T>CSubstitution - Missense
NM_172373.2p.L345Lc.1035A>GSubstitution - coding silent
NM_007365.1p.G421Sc.1261G>ASubstitution - Missense
ENST00000341258p.?c.1078-10C>TUnknown
ENST00000280576p.E1690Kc.5068G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000435930p.F235Fc.705C>TSubstitution - coding silent
CPA6ENSG00000165078ENST00000518549p.Y37Hc.109T>CSubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.P427Sc.1279C>TSubstitution - Missense
NM_004224.1p.P427Sc.1279C>TSubstitution - Missense
NM_004224.1p.G430Gc.1290T>CSubstitution - coding silent
CUL4BENSG00000158290ENST00000336592p.E564Ac.1691A>CSubstitution - Missense
NM_053025p.E1066Vc.3197A>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.2664-2A>TUnknown
UCKL1ENSG00000198276ENST00000354216p.T93Tc.279G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.R3845Hc.11534G>ASubstitution - Missense
NCAPG2ENSG00000146918ENST00000409423p.V16Ic.46G>ASubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.D589Ac.1766A>CSubstitution - Missense
PLECENSG00000178209ENST00000354589p.P465Pc.1395G>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000339750p.P280Tc.838C>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.Y1009Yc.3027C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000357272p.D190Dc.570C>TSubstitution - coding silent
ENST00000539533_v68p.M318Vc.952A>GSubstitution - Missense
ENSG00000255622ENST00000539533p.M318Vc.952A>GSubstitution - Missense
SLC13A3ENSG00000158296ENST00000372121p.L233Pc.698T>CSubstitution - Missense
FBLN1ENSG00000077942ENST00000348697p.D173Nc.517G>ASubstitution - Missense
ENST00000421660p.I1417Lc.4249A>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.D819Dc.2457T>CSubstitution - coding silent
HKR1ENSG00000181666ENST00000392153p.K88Tc.263A>CSubstitution - Missense
NFYCENSG00000066136ENST00000425457p.R252Rc.756C>TSubstitution - coding silent
PAPOLAENSG00000090060ENST00000557320p.F49Fc.147T>CSubstitution - coding silent
TAOK2ENSG00000149930ENST00000416441p.R168Qc.503G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.A523Vc.1568C>TSubstitution - Missense
ELF1ENSG00000120690ENST00000239882p.L345Lc.1035A>GSubstitution - coding silent
ENST00000458043_v65p.H1303Yc.3907C>TSubstitution - Missense
PADI2ENSG00000117115ENST00000375486p.G421Sc.1261G>ASubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.P167Lc.500C>TSubstitution - Missense
TBATAENSG00000166220ENST00000545575p.F39Fc.117C>TSubstitution - coding silent
ENST00000454161p.V453Vc.1359G>ASubstitution - coding silent
CACNB2ENSG00000165995ENST00000377319p.A473Sc.1417G>TSubstitution - Missense
EGFL8ENSG00000241404ENST00000395512p.H172fs*3c.510delCDeletion - Frameshift
PLXNB3ENSG00000198753ENST00000538282p.V221Vc.663G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R213*c.637C>TSubstitution - Nonsense
CACNB2ENSG00000165995ENST00000377315p.A518Sc.1552G>TSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.Y683Yc.2049C>TSubstitution - coding silent
LRSAM1ENSG00000148356ENST00000373322p.A451Tc.1351G>ASubstitution - Missense
GSTA3ENSG00000174156ENST00000211122p.A183Sc.547G>TSubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.G430Gc.1290T>CSubstitution - coding silent
GAGE2DENSG00000240257ENST00000404720p.G24Wc.70G>TSubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.F519Fc.1557C>TSubstitution - coding silent
TBC1D32ENSG00000146350ENST00000398212p.M1Tc.2T>CSubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.S149Ic.446G>TSubstitution - Missense
PDIA6ENSG00000143870ENST00000272227p.I305Vc.913A>GSubstitution - Missense
CFL2ENSG00000165410ENST00000341223p.G4Gc.12A>GSubstitution - coding silent
C1orf63ENSG00000117616ENST00000243189p.N185Sc.554A>GSubstitution - Missense
FTCDENSG00000160282ENST00000397748p.P164Pc.492C>TSubstitution - coding silent
RNF17ENSG00000132972ENST00000255324p.K1079Nc.3237A>TSubstitution - Missense
RXFP2ENSG00000133105ENST00000298386p.S723Pc.2167T>CSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.L1223Lc.3669C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.Y462Cc.1385A>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.H112Pc.335A>CSubstitution - Missense
CAPN1ENSG00000014216ENST00000279247p.?c.268-4G>AUnknown
PLECENSG00000178209ENST00000356346p.P451Pc.1353G>CSubstitution - coding silent
TP53BP2ENSG00000143514ENST00000391878p.G713Rc.2137G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.K559Mc.1676A>TSubstitution - Missense
TMEM192ENSG00000170088ENST00000306480p.?c.575-4T>CUnknown
C2ENSG00000166278ENST00000299367p.N312Kc.936C>GSubstitution - Missense
PTGDSENSG00000107317ENST00000224167p.L79Vc.235C>GSubstitution - Missense
SLC25A39ENSG00000013306ENST00000377095p.V285Vc.855C>GSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.P1158Tc.3472C>ASubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.P564Pc.1692G>ASubstitution - coding silent
UCK1ENSG00000130717ENST00000372211p.L267Pc.800T>CSubstitution - Missense
NM_017760.4p.V16Ic.46G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000361971p.V611Vc.1833G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P3744Lc.11231C>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.L498Vc.1492T>GSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.R469Wc.1405C>TSubstitution - Missense
CMTM8ENSG00000170293ENST00000307526p.V85Ic.253G>ASubstitution - Missense
ACPPENSG00000014257ENST00000336375p.L258Lc.774C>TSubstitution - coding silent
SRCIN1ENSG00000017373ENST00000264659p.S541Lc.1622C>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.V1643Ac.4928T>CSubstitution - Missense
FTCDENSG00000160282ENST00000397746p.P164Pc.492C>TSubstitution - coding silent
NOX5ENSG00000255346ENST00000260364p.?c.120+9T>CUnknown
USP47ENSG00000170242ENST00000339865p.M533Tc.1598T>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.V469Mc.1405G>ASubstitution - Missense
SLC3A2ENSG00000168003ENST00000377892p.G34Vc.101G>TSubstitution - Missense
SYT11ENSG00000132718ENST00000368324p.?c.862-9T>AUnknown
SELPLGENSG00000110876ENST00000388962p.S357Sc.1071C>TSubstitution - coding silent
ENSG00000186838ENST00000335426p.Q288*c.862C>TSubstitution - Nonsense
TP63ENSG00000073282ENST00000418709p.H443Hc.1329C>TSubstitution - coding silent
MTMR9ENSG00000104643ENST00000221086p.M116Vc.346A>GSubstitution - Missense
DDX56ENSG00000136271ENST00000258772p.?c.1567-1G>CUnknown
PLXNB3ENSG00000198753ENST00000538966p.V634Vc.1902G>ASubstitution - coding silent
GPR50ENSG00000102195ENST00000218316p.P432Sc.1294C>TSubstitution - Missense
NM_004224.1p.P432Sc.1294C>TSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.K481delKc.1435_1437delAAGDeletion - In frame
PCDHGB6ENSG00000253305ENST00000520790p.G571Vc.1712G>TSubstitution - Missense
RALGDSENSG00000160271ENST00000372062p.R524Qc.1571G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.P311Pc.933G>ASubstitution - coding silent
ADAM28ENSG00000042980ENST00000265769p.E536Kc.1606G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.E1144Kc.3430G>ASubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.L868Lc.2604C>GSubstitution - coding silent
AURKCENSG00000105146ENST00000302804p.F239Fc.717T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S1018Cc.3053C>GSubstitution - Missense
RSL24D1ENSG00000137876ENST00000260443p.T64Ic.191C>TSubstitution - Missense
MACROD2ENSG00000172264ENST00000217246p.A362Ac.1086C>TSubstitution - coding silent
NOL4ENSG00000101746ENST00000261592p.Y33Yc.99C>TSubstitution - coding silent
MPHOSPH9ENSG00000051825ENST00000302349p.Y1016*c.3048T>GSubstitution - Nonsense
TMED2ENSG00000086598ENST00000262225p.L11Lc.31C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.P1639Pc.4917C>TSubstitution - coding silent
LCE3EENSG00000185966ENST00000368789p.E49Kc.145G>ASubstitution - Missense
BPTFENSG00000171634ENST00000335221p.G2126Gc.6378C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R213*c.637C>TSubstitution - Nonsense
LPHN3ENSG00000150471ENST00000507625p.Y445Fc.1334A>TSubstitution - Missense
PDIA6ENSG00000143870ENST00000381611p.I310Vc.928A>GSubstitution - Missense
ENSG00000180574ENST00000322446p.R349Qc.1046G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.P148Pc.444G>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.Y377Fc.1130A>TSubstitution - Missense
ENSG00000186838ENST00000423711p.Q288*c.862C>TSubstitution - Nonsense
AFTPHENSG00000119844ENST00000238855p.K288Rc.863A>GSubstitution - Missense
SEPSECSENSG00000109618ENST00000382103p.?c.1120+8C>AUnknown
B3GAT2ENSG00000112309ENST00000230053p.T99Ac.295A>GSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.?c.2815-10A>TUnknown
SU_KSR1p.P239Pc.717C>GSubstitution - coding silent
PHF12ENSG00000109118ENST00000332830p.Q760Ec.2278C>GSubstitution - Missense
ZDHHC14ENSG00000175048ENST00000359775p.?c.855+10T>CUnknown
PCSK9ENSG00000169174ENST00000302118p.I424Vc.1270A>GSubstitution - Missense
GATMENSG00000171766ENST00000396659p.T389fs*4c.1164_1165insAInsertion - Frameshift
NM_003319p.R297Qc.890G>ASubstitution - Missense
KRTAP5-4ENSG00000241598ENST00000399682p.K227fs*1c.678_679insTInsertion - Frameshift
DGKBENSG00000136267ENST00000258767p.P362Lc.1085C>TSubstitution - Missense
TOX2ENSG00000124191ENST00000372999p.R181Kc.542G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.Y377Fc.1130A>TSubstitution - Missense
ST7ENSG00000004866ENST00000265437p.?c.1406-7T>CUnknown
FAM91A1ENSG00000176853ENST00000334705p.?c.550-5C>TUnknown
MAST4ENSG00000069020ENST00000403666p.P301Pc.903G>ASubstitution - coding silent
DMXL1ENSG00000172869ENST00000539542p.H914Rc.2741A>GSubstitution - Missense
P4HA2ENSG00000072682ENST00000166534p.S108Pc.322T>CSubstitution - Missense
JADE2ENSG00000043143ENST00000395003p.Y231Fc.692A>TSubstitution - Missense
FIGNL1ENSG00000132436ENST00000395556p.M119Tc.356T>CSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.M110Tc.329T>CSubstitution - Missense
C18orf54ENSG00000166845ENST00000300091p.L44Lc.132G>CSubstitution - coding silent
ITGALENSG00000005844ENST00000356798p.K1063Rc.3188A>GSubstitution - Missense
FBLN1ENSG00000077942ENST00000442170p.D173Nc.517G>ASubstitution - Missense
KCNH6ENSG00000173826ENST00000583023p.D119Dc.357C>TSubstitution - coding silent
KRT6CENSG00000170465ENST00000252250p.Q449Qc.1347G>ASubstitution - coding silent
CSDE1ENSG00000009307ENST00000358528p.I387Mc.1161T>GSubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.Q14Hc.42G>TSubstitution - Missense
CDH23ENSG00000107736ENST00000461841p.N289Nc.867C>TSubstitution - coding silent
ZNF84ENSG00000198040ENST00000392319p.R103Sc.309A>TSubstitution - Missense
ENSG00000180574ENST00000538173p.R349Qc.1046G>ASubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.V101Vc.303C>ASubstitution - coding silent
ENST00000448712p.Y247Fc.740A>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.F830Lc.2490C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.V175Fc.523G>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.T238Tc.714G>ASubstitution - coding silent
NM_004440p.D589Ac.1766A>CSubstitution - Missense
EVCENSG00000072840ENST00000264956p.?c.1564-6C>TUnknown
ESRRGENSG00000196482ENST00000391890p.T275Tc.825G>ASubstitution - coding silent
ZNRF4ENSG00000105428ENST00000222033p.E359Kc.1075G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.T3256Sc.9767C>GSubstitution - Missense
TAOK2ENSG00000149930ENST00000279394p.R341Qc.1022G>ASubstitution - Missense
ANKRD20A4ENSG00000172014ENST00000357336p.P426Sc.1276C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.27476-7A>GUnknown
PLECENSG00000178209ENST00000436759p.P492Pc.1476G>CSubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.P1106Sc.3316C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.N2888Nc.8664C>TSubstitution - coding silent
EAPPENSG00000129518ENST00000250454p.S87Fc.260C>TSubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.G934Sc.2800G>ASubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.L500Fc.1498C>TSubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.P167Lc.500C>TSubstitution - Missense
HTR3AENSG00000166736ENST00000355556p.R482Cc.1444C>TSubstitution - Missense
ANXA10ENSG00000109511ENST00000359299p.R292Lc.875G>TSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.P255Sc.763C>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P1883Pc.5649C>TSubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000240727p.A484Vc.1451C>TSubstitution - Missense
PES1ENSG00000100029ENST00000354694p.A192Ac.576C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.R3289Hc.9866G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.K332Mc.995A>TSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.?c.1055-9C>AUnknown
GNASENSG00000087460ENST00000371100p.V277Gc.830T>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.Y689Yc.2067C>TSubstitution - coding silent
RBM48ENSG00000127993ENST00000265732p.T278Tc.834A>GSubstitution - coding silent
CORINENSG00000145244ENST00000273857p.R45Rc.135G>CSubstitution - coding silent
TPRKBENSG00000144034ENST00000272424p.E12Kc.34G>ASubstitution - Missense
PYGLENSG00000100504ENST00000216392p.T238fs*14c.712_713delACDeletion - Frameshift
MTNR1BENSG00000134640ENST00000257068p.V256Vc.768G>ASubstitution - coding silent
TMTC2ENSG00000179104ENST00000321196p.I554Ic.1662T>CSubstitution - coding silent
SCN2AENSG00000136531ENST00000375427p.S1297Pc.3889T>CSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.V101Vc.303C>ASubstitution - coding silent
ATP13A4ENSG00000127249ENST00000342695p.G183Gc.549G>ASubstitution - coding silent
ENST00000348077p.R232Kc.695G>ASubstitution - Missense
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
NFYCENSG00000066136ENST00000308733p.R252Rc.756C>TSubstitution - coding silent
NM_001371.1p.T3256Sc.9767C>GSubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.R624Qc.1871G>ASubstitution - Missense
SEPSECSENSG00000109618ENST00000302922p.?c.883+8C>AUnknown
PSG6ENSG00000170848ENST00000292125p.D174Nc.520G>ASubstitution - Missense
BOLLENSG00000152430ENST00000392296p.T132Tc.396T>GSubstitution - coding silent
C18orf8ENSG00000141452ENST00000269221p.S163Rc.487A>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.Y3315Cc.9944A>GSubstitution - Missense
COG1ENSG00000166685ENST00000299886p.I131Ic.393C>TSubstitution - coding silent
ENST00000405167p.P3744Lc.11231C>TSubstitution - Missense
NCANENSG00000130287ENST00000252575p.Q1036*c.3106C>TSubstitution - Nonsense
ZNF764ENSG00000169951ENST00000252797p.P367Pc.1101C>TSubstitution - coding silent
SALL4ENSG00000101115ENST00000217086p.I84Mc.252C>GSubstitution - Missense
ENST00000356127p.T3798Tc.11394G>ASubstitution - coding silent
ANO4ENSG00000151572ENST00000392979p.?c.1207+9T>CUnknown
EFCAB2ENSG00000203666ENST00000366522p.R245Cc.733C>TSubstitution - Missense
SNX21ENSG00000124104ENST00000342644p.G28Ec.83G>ASubstitution - Missense
TP63ENSG00000073282ENST00000354600p.H349Hc.1047C>TSubstitution - coding silent
LIMCH1ENSG00000064042ENST00000396595p.A347Gc.1040C>GSubstitution - Missense
COMMD6ENSG00000188243ENST00000355801p.*99*c.296G>ASubstitution - coding silent
ALDH3B2ENSG00000132746ENST00000530069p.T238Mc.713C>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.Q14Hc.42G>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.V127Mc.379G>ASubstitution - Missense
UROSENSG00000188690ENST00000368778p.?c.245-3C>TUnknown
MAST4ENSG00000069020ENST00000261569p.P296Pc.888G>ASubstitution - coding silent
TOPAZ1ENSG00000173769ENST00000309765p.C937Wc.2811T>GSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.A1871Vc.5612C>TSubstitution - Missense
AARSENSG00000090861ENST00000261772p.?c.334-10C>AUnknown
RIMS2ENSG00000176406ENST00000507740p.P1158Tc.3472C>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.H649Hc.1947C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000371663p.F442Fc.1326C>TSubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.P1165Pc.3495G>ASubstitution - coding silent
CADPSENSG00000163618ENST00000283269p.L273Hc.818T>ASubstitution - Missense
PHF20ENSG00000025293ENST00000374012p.N663Dc.1987A>GSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.I3969Ic.11907C>ASubstitution - coding silent
SLC17A4ENSG00000146039ENST00000377905p.S472Sc.1416G>ASubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
WDR12ENSG00000138442ENST00000261015p.P65Pc.195C>GSubstitution - coding silent
OVOL2ENSG00000125850ENST00000278780p.G223Sc.667G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.T304Mc.911C>TSubstitution - Missense
PTGDSENSG00000107317ENST00000371625p.L79Vc.235C>GSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.A1076Vc.3227C>TSubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.E517Gc.1550A>GSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.I368Ic.1104T>CSubstitution - coding silent
LRRC15ENSG00000172061ENST00000439944p.A358Tc.1072G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.I756Vc.2266A>GSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.Y683Yc.2049C>TSubstitution - coding silent
NRSN1ENSG00000152954ENST00000378477p.F154fs*>24c.460delTDeletion - Frameshift
CDH23ENSG00000107736ENST00000299366p.N249Nc.747C>TSubstitution - coding silent
COL4A3BPENSG00000113163ENST00000380494p.I617Vc.1849A>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.V994Ic.2980G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.A1277Tc.3829G>ASubstitution - Missense
HIST1H2AEENSG00000168274ENST00000303910p.P110Pc.330C>GSubstitution - coding silent
LIMCH1ENSG00000064042ENST00000512820p.A489Gc.1466C>GSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.S1185Sc.3555T>CSubstitution - coding silent
LIFRENSG00000113594ENST00000263409p.N340Nc.1020T>CSubstitution - coding silent
ENST00000300671p.D819Dc.2457T>CSubstitution - coding silent
DOCK11ENSG00000147251ENST00000276202p.?c.1980+3A>GUnknown
IFT43ENSG00000119650ENST00000314067p.?c.216-9T>CUnknown
KCNK4ENSG00000182450ENST00000422670p.P380Lc.1139C>TSubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEEc.40_41insAGGAGGInsertion - In frame
AKR1A1ENSG00000117448ENST00000372070p.V39Ac.116T>CSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R213*c.637C>TSubstitution - Nonsense
GPR31ENSG00000120436ENST00000366834p.P48Pc.144G>ASubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.?c.4863-4G>AUnknown
FCN2ENSG00000160339ENST00000291744p.C98Cc.294C>TSubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.P255Sc.763C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.?c.344-11_620-50del816Unknown
SSX2IPENSG00000117155ENST00000370612p.L432Vc.1294C>GSubstitution - Missense
COL4A3BPENSG00000113163ENST00000405807p.I489Vc.1465A>GSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.K1081Mc.3242A>TSubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.E169Kc.505G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.P443Pc.1329G>CSubstitution - coding silent
ZNF365ENSG00000138311ENST00000395255p.R235Cc.703C>TSubstitution - Missense
FNTBENSG00000257365ENST00000246166p.V122Ac.365T>CSubstitution - Missense
ENST00000343901_v65p.T252Ac.754A>GSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.I508Sc.1523T>GSubstitution - Missense
ANKRD34AENSG00000181039ENST00000323397p.E293*c.877G>TSubstitution - Nonsense
NM_033667.1p.C35Cc.105T>CSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.G362Gc.1086A>GSubstitution - coding silent
BTBD16ENSG00000138152ENST00000260723p.V82Mc.244G>ASubstitution - Missense
ZNF496ENSG00000162714ENST00000294753p.V257Vc.771C>TSubstitution - coding silent
OR4D9ENSG00000172742ENST00000329328p.D84Dc.252T>CSubstitution - coding silent
GPR162ENSG00000250510ENST00000311268p.V192Fc.574G>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.S426Sc.1278G>ASubstitution - coding silent
CCDC66ENSG00000180376ENST00000436465p.K294Nc.882A>TSubstitution - Missense
ZNF496ENSG00000162714ENST00000366498p.V293Vc.879C>TSubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.?c.3077+6T>AUnknown
PTGDSENSG00000107317ENST00000371623p.L79Vc.235C>GSubstitution - Missense
TLE4ENSG00000106829ENST00000376552p.P333Pc.999C>TSubstitution - coding silent
SLC25A39ENSG00000013306ENST00000225308p.V277Vc.831C>GSubstitution - coding silent
TAS2R40ENSG00000221937ENST00000408947p.R85Qc.254G>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.V319Lc.955G>CSubstitution - Missense
PLAGL1ENSG00000118495ENST00000367571p.T206Tc.618C>ASubstitution - coding silent
MRPS9ENSG00000135972ENST00000258455p.S247Rc.739A>CSubstitution - Missense
UPK3BENSG00000243566ENST00000257632p.K223Nc.669G>CSubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.P673Lc.2018C>TSubstitution - Missense
LY6HENSG00000176956ENST00000430474p.G126Gc.378G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R297Qc.890G>ASubstitution - Missense
C11orf72ENSG00000184224ENST00000333139p.C65Cc.195T>CSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.L664Fc.1992G>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.?c.3077+6T>AUnknown
SIX4ENSG00000100625ENST00000216513p.S655Fc.1964C>TSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.E2512Ec.7536G>ASubstitution - coding silent
TICRRENSG00000140534ENST00000268138p.?c.5603-4C>GUnknown
FAM196BENSG00000204767ENST00000377365p.L390Rc.1169T>GSubstitution - Missense
CILP2ENSG00000160161ENST00000291495p.T608Mc.1823C>TSubstitution - Missense
OBP2AENSG00000122136ENST00000371776p.C74Yc.221G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.Y952Yc.2856C>TSubstitution - coding silent
EPHX3ENSG00000105131ENST00000221730p.I184Mc.552C>GSubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.R552Qc.1655G>ASubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.V707Vc.2121G>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.?c.2398+8C>AUnknown
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.L2071Pc.6212T>CSubstitution - Missense
XPCENSG00000154767ENST00000285021p.Y865Yc.2595C>TSubstitution - coding silent
TMEFF2ENSG00000144339ENST00000272771p.?c.440-6C>GUnknown
TTNENSG00000155657ENST00000360870p.R297Qc.890G>ASubstitution - Missense
FAM189A2ENSG00000135063ENST00000377216p.E156delEc.463_465delGAGDeletion - In frame
ENST00000356127p.?c.27476-7A>GUnknown
SCRIBENSG00000180900ENST00000356994p.L1242Vc.3724C>GSubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.?c.3251+4C>AUnknown
MOCS3ENSG00000124217ENST00000244051p.L109Vc.325C>GSubstitution - Missense
POMZP3ENSG00000146707ENST00000310842p.K57Rc.170A>GSubstitution - Missense
ZFPL1ENSG00000162300ENST00000294258p.N296Dc.886A>GSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.Y1026Hc.3076T>CSubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.H530Yc.1588C>TSubstitution - Missense
EFCAB2ENSG00000203666ENST00000366523p.R109Cc.325C>TSubstitution - Missense
TP63ENSG00000073282ENST00000264731p.H443Hc.1329C>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.S1897Sc.5691G>ASubstitution - coding silent
KIF4BENSG00000226650ENST00000435029p.E873Kc.2617G>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.L477Mc.1429C>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
NM_198255.1p.C970Cc.2910T>CSubstitution - coding silent
KRTAP12-1ENSG00000187175ENST00000391617p.C55fs*>42c.163_164delTGDeletion - Frameshift
RNASEH1ENSG00000171865ENST00000315212p.R157Qc.470G>ASubstitution - Missense
ARFGAP1ENSG00000101199ENST00000353546p.I41Vc.121A>GSubstitution - Missense
KIF19ENSG00000196169ENST00000389916p.?c.778-9G>AUnknown
KSR1ENSG00000141068ENST00000319524p.P239Pc.717C>GSubstitution - coding silent
CCDC176ENSG00000119636ENST00000394009p.A366Tc.1096G>ASubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.V444Vc.1332G>ASubstitution - coding silent
SLC45A3ENSG00000158715ENST00000367145p.L208Vc.622C>GSubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.S285Sc.855C>TSubstitution - coding silent
HERC5ENSG00000138646ENST00000264350p.D595Dc.1785C>TSubstitution - coding silent
CENPFENSG00000117724ENST00000366955p.L2888Lc.8662C>TSubstitution - coding silent
ENST00000360228_v70p.P277Pc.831C>TSubstitution - coding silent
ZDHHC6ENSG00000023041ENST00000369405p.?c.1092-1G>CUnknown
WDR64ENSG00000162843ENST00000366552p.W279Cc.837G>TSubstitution - Missense
USP47ENSG00000170242ENST00000399455p.M621Tc.1862T>CSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.D224Gc.671A>GSubstitution - Missense
TMEM192ENSG00000170088ENST00000506087p.?c.563-4T>CUnknown
ENST00000357018p.P277Pc.831C>TSubstitution - coding silent
POMZP3ENSG00000146707ENST00000275569p.K57Rc.170A>GSubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.C73Yc.218G>ASubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.?c.344-11_620-50del816Unknown
CNOT8ENSG00000155508ENST00000285896p.H157Dc.469C>GSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.P71Pc.213G>ASubstitution - coding silent
AURKCENSG00000105146ENST00000448930p.F205Fc.615T>CSubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.G358Ec.1073G>ASubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.?c.827-9G>AUnknown
IGSF3ENSG00000143061ENST00000369483p.V489Mc.1465G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.H117Pc.350A>CSubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.G355*c.1063G>TSubstitution - Nonsense
WDR93ENSG00000140527ENST00000268130p.K553Kc.1659G>ASubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S2554*c.7661C>GSubstitution - Nonsense
DHRS3ENSG00000162496ENST00000376223p.E57Dc.171G>CSubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.T264Nc.791C>ASubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.M523Ic.1569G>TSubstitution - Missense
YEATS2ENSG00000163872ENST00000305135p.I1417Lc.4249A>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.R748Rc.2244G>TSubstitution - coding silent
IRAK4ENSG00000198001ENST00000448290p.R183Qc.548G>ASubstitution - 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