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BC-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

542 mutations reported
197 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
ABCB11ENSG00000073734ENST00000263817p.S22Tc.64T>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000429452p.L524Lc.1572G>ASubstitution - coding silent
FRMD1ENSG00000153303ENST00000283309p.E236Kc.706G>ASubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.T267Mc.800C>TSubstitution - Missense
ENST00000375206p.T12Sc.34A>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.P835Pc.2505A>GSubstitution - coding silent
ZNF800ENSG00000048405ENST00000393312p.L363Ic.1087C>ASubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.R287Qc.860G>ASubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.R405Qc.1214G>ASubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.V378fs*46c.1131_1132insCAInsertion - Frameshift
ARHGEF12ENSG00000196914ENST00000397843p.H124fs*7c.369_372delTCATDeletion - Frameshift
MRGPRGENSG00000182170ENST00000332314p.A56Pc.166G>CSubstitution - Missense
HGFACENSG00000109758ENST00000382774p.?c.118-8C>AUnknown
SGSM1ENSG00000167037ENST00000400358p.R60Qc.179G>ASubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.L1233Lc.3699C>TSubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.S17fs*16c.49_50insTInsertion - Frameshift
SAMD7ENSG00000187033ENST00000335556p.F428Cc.1283T>GSubstitution - Missense
GTF3C5ENSG00000148308ENST00000372095p.I328Ic.984C>TSubstitution - coding silent
FRMD3ENSG00000172159ENST00000328788p.E4Kc.10G>ASubstitution - Missense
SNX25ENSG00000109762ENST00000504273p.P755Lc.2264C>TSubstitution - Missense
MAML3ENSG00000196782ENST00000509479p.S389Sc.1167C>TSubstitution - coding silent
METTL14ENSG00000145388ENST00000388822p.P166Lc.497C>TSubstitution - Missense
CTC1ENSG00000178971ENST00000315684p.Q37Hc.111G>TSubstitution - Missense
RFX2ENSG00000087903ENST00000303657p.A508Vc.1523C>TSubstitution - Missense
ITGAVENSG00000138448ENST00000261023p.Q722Qc.2166A>GSubstitution - coding silent
ZBTB1ENSG00000126804ENST00000394712p.V142Ic.424G>ASubstitution - Missense
MUC15ENSG00000169550ENST00000436318p.N175Kc.525C>ASubstitution - Missense
SART1ENSG00000175467ENST00000312397p.?c.982-7C>TUnknown
GRHL3ENSG00000158055ENST00000350501p.V589Vc.1767G>ASubstitution - coding silent
FRMD4AENSG00000151474ENST00000357447p.G1001Ec.3002G>ASubstitution - Missense
BRSK2ENSG00000174672ENST00000382179p.R44Kc.131G>ASubstitution - Missense
SNIP1ENSG00000163877ENST00000296215p.H124Hc.372C>TSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.A727Vc.2180C>TSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.D967Nc.2899G>ASubstitution - Missense
NM_152586.2p.S9Fc.26C>TSubstitution - Missense
TP53BP2ENSG00000143514ENST00000391878p.F35Cc.104T>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000494651p.P333Sc.997C>TSubstitution - Missense
TCF25ENSG00000141002ENST00000263347p.P238Pc.714C>TSubstitution - coding silent
MRPL34ENSG00000130312ENST00000252602p.?c.65+8C>TUnknown
ZYXENSG00000159840ENST00000322764p.P121Pc.363G>TSubstitution - coding silent
FNDC3BENSG00000075420ENST00000336824p.P384Pc.1152C>TSubstitution - coding silent
NM_006596.3p.R880Hc.2639G>ASubstitution - Missense
AF083811.1p.?c.987-7C>TUnknown
SEC16BENSG00000120341ENST00000308284p.L9Lc.27G>TSubstitution - coding silent
CCP110ENSG00000103540ENST00000396212p.L117Lc.349T>CSubstitution - coding silent
DDX21ENSG00000165732ENST00000354185p.A386Tc.1156G>ASubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.D1349Dc.4047C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.L1551Lc.4653A>GSubstitution - coding silent
ENST00000262870p.Q199Hc.597G>TSubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.E29Qc.85G>CSubstitution - Missense
ATG10ENSG00000152348ENST00000282185p.A90Ac.270G>ASubstitution - coding silent
BTNL9ENSG00000165810ENST00000327705p.?c.110-1G>AUnknown
RGS12ENSG00000159788ENST00000306648p.P11Sc.31C>TSubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.R295*c.883C>TSubstitution - Nonsense
RNF148ENSG00000235631ENST00000434824p.M1Ic.3G>ASubstitution - Missense
ENST00000300671p.L3553Lc.10659C>TSubstitution - coding silent
TMCO4ENSG00000162542ENST00000294543p.E438Kc.1312G>ASubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.R161Cc.481C>TSubstitution - Missense
LIMK1ENSG00000106683ENST00000538333p.V146Vc.438C>TSubstitution - coding silent
EIF4G1ENSG00000114867ENST00000319274p.?c.3780+9T>CUnknown
LIPEENSG00000079435ENST00000244289p.H663Hc.1989C>TSubstitution - coding silent
BNC2ENSG00000173068ENST00000380672p.E725Kc.2173G>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.R584Kc.1751G>ASubstitution - Missense
CBWD2ENSG00000136682ENST00000259199p.E181Kc.541G>ASubstitution - Missense
FSCN3ENSG00000106328ENST00000265825p.Q212*c.634C>TSubstitution - Nonsense
ENST00000262017p.A729Tc.2185G>ASubstitution - Missense
CCDC64ENSG00000135127ENST00000257583p.E116Kc.346G>ASubstitution - Missense
VPS39ENSG00000166887ENST00000318006p.L405Lc.1215G>ASubstitution - coding silent
GBF1ENSG00000107862ENST00000369983p.M171Ic.513G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.E660Ec.1980G>ASubstitution - coding silent
SPRYD3ENSG00000167778ENST00000301463p.E387Ec.1161G>ASubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.?c.3244-9C>GUnknown
PCSK9ENSG00000169174ENST00000452118p.?c.208-2A>GUnknown
TOR2AENSG00000160404ENST00000373284p.A277Tc.829G>ASubstitution - Missense
ADAM29ENSG00000168594ENST00000359240p.P352Hc.1055C>ASubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.L1760Lc.5280C>GSubstitution - coding silent
ASIC4ENSG00000072182ENST00000358078p.E153Gc.458A>GSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.K893Kc.2679G>ASubstitution - coding silent
MC1RENSG00000258839ENST00000555147p.I180fs*59c.537_538insCInsertion - Frameshift
HIST1H1EENSG00000168298ENST00000304218p.A123Tc.367G>ASubstitution - Missense
HIST1H3CENSG00000196532ENST00000540144p.E95Kc.283G>ASubstitution - Missense
KCNG1ENSG00000026559ENST00000371571p.M142Ic.426G>ASubstitution - Missense
ENST00000333834_v70p.A432Tc.1294G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.R538Hc.1613G>ASubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.V775Ac.2324T>CSubstitution - Missense
CD151ENSG00000177697ENST00000397420p.L250Lc.750G>ASubstitution - coding silent
SOCS2ENSG00000120833ENST00000340600p.L106Lc.316T>CSubstitution - coding silent
RPGRIP1ENSG00000092200ENST00000400017p.E1044Ec.3132G>ASubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.G230Rc.688G>CSubstitution - Missense
NM_182507.1p.V266Vc.798G>ASubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.?c.3567-3C>AUnknown
ENST00000349637p.A2105Pc.6313G>CSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.P1764Sc.5290C>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000389656p.Y120Yc.360C>TSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.I170Vc.508A>GSubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.M429Ic.1287G>ASubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.R276Ic.827G>TSubstitution - Missense
RICTORENSG00000164327ENST00000357387p.?c.2051+6C>AUnknown
SMG9ENSG00000105771ENST00000270066p.L171Lc.513A>GSubstitution - coding silent
ZYXENSG00000159840ENST00000322764p.E122Qc.364G>CSubstitution - Missense
ENST00000342288p.P1447Sc.4339C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375205p.T12Sc.34A>TSubstitution - Missense
PTPN1ENSG00000196396ENST00000371621p.?c.354+2deltUnknown
S1PR4ENSG00000125910ENST00000246115p.A114Tc.340G>ASubstitution - Missense
RICTORENSG00000164327ENST00000296782p.?c.2051+6C>AUnknown
KMT2DENSG00000167548ENST00000301067p.Q3011fs*49c.9031delCDeletion - Frameshift
SLIT1ENSG00000187122ENST00000266058p.L668Fc.2002C>TSubstitution - Missense
PVRENSG00000073008ENST00000406449p.E116Kc.346G>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.Q502Kc.1504C>ASubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.D293Dc.879C>TSubstitution - coding silent
ZNF646ENSG00000167395ENST00000300850p.I1580Vc.4738A>GSubstitution - Missense
PASKENSG00000115687ENST00000234040p.S713Lc.2138C>TSubstitution - Missense
COX7B2ENSG00000170516ENST00000355591p.C50Cc.150T>CSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.G3702Ec.11105G>ASubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.R1693_S1694insTRc.5080_5081insCCCGCAInsertion - In frame
MPEG1ENSG00000197629ENST00000361050p.F10Fc.30C>TSubstitution - coding silent
NFRKBENSG00000170322ENST00000524794p.G577Gc.1731C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.L4062Rc.12185T>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.L1581Lc.4743G>ASubstitution - coding silent
COL15A1ENSG00000204291ENST00000375001p.E904Ec.2712A>GSubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.S389Sc.1167C>TSubstitution - coding silent
VN1R1ENSG00000178201ENST00000321039p.P193Pc.579A>GSubstitution - coding silent
TRIM36ENSG00000152503ENST00000282369p.H697Rc.2090A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R1680Qc.5039G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.R1680Qc.5039G>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.S713Lc.2138C>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000444520p.L524Lc.1572G>ASubstitution - coding silent
ZNF800ENSG00000048405ENST00000393313p.L363Ic.1087C>ASubstitution - Missense
CNN3ENSG00000117519ENST00000370206p.H309Yc.925C>TSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.Q991Rc.2972A>GSubstitution - Missense
CTSSENSG00000163131ENST00000368985p.?c.127-1G>AUnknown
SPATA4ENSG00000150628ENST00000280191p.?c.689-5T>CUnknown
CYP3A5ENSG00000106258ENST00000222982p.I383Ic.1149C>TSubstitution - coding silent
MAGI2ENSG00000187391ENST00000535697p.F250Fc.750C>TSubstitution - coding silent
ANXA13ENSG00000104537ENST00000262219p.G102Rc.304G>CSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.H697Rc.2090A>GSubstitution - Missense
SLURP1ENSG00000126233ENST00000246515p.M51Kc.152T>ASubstitution - Missense
DAG1ENSG00000173402ENST00000308775p.I769Ic.2307C>TSubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.P530Pc.1590C>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.F1832Fc.5496T>CSubstitution - coding silent
NM_006255p.?c.614-5C>TUnknown
CHORDC1ENSG00000110172ENST00000320585p.L37Fc.111A>CSubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.P316Lc.947C>TSubstitution - Missense
CEBPEENSG00000092067ENST00000206513p.G26Ec.77G>ASubstitution - Missense
SLC35D3ENSG00000182747ENST00000331858p.A75Ac.225G>ASubstitution - coding silent
DOCK7ENSG00000116641ENST00000251157p.?c.4585-5T>CUnknown
RALGPS1ENSG00000136828ENST00000394022p.R381Sc.1143G>CSubstitution - Missense
SPATA4ENSG00000150628ENST00000280191p.I84Mc.252A>GSubstitution - Missense
ENST00000402998p.R429Kc.1286G>ASubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.P896Qc.2687C>ASubstitution - Missense
ENST00000456564p.P802Qc.2405C>ASubstitution - Missense
L1TD1ENSG00000240563ENST00000498273p.D353Nc.1057G>ASubstitution - Missense
SLC35D1ENSG00000116704ENST00000235345p.?c.729+10T>AUnknown
DOCK7ENSG00000116641ENST00000340370p.?c.4519-5T>CUnknown
MLKLENSG00000168404ENST00000308807p.I405Ic.1215C>TSubstitution - coding silent
CYFIP1ENSG00000068793ENST00000313077p.A774Ec.2321C>ASubstitution - Missense
ARHGAP42ENSG00000165895ENST00000298815p.E78Ec.234G>ASubstitution - coding silent
TMPRSS13ENSG00000137747ENST00000445164p.K479Kc.1437A>GSubstitution - coding silent
ENST00000367790_v70p.L175Lc.525C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.L1881Lc.5643C>GSubstitution - coding silent
OR2A7ENSG00000243896ENST00000493325p.I173fs*42c.517delADeletion - Frameshift
RIMS2ENSG00000176406ENST00000507740p.R201Kc.602G>ASubstitution - Missense
EGFENSG00000138798ENST00000265171p.H337Yc.1009C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R1680Qc.5039G>ASubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.T482Nc.1445C>ASubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.V669Mc.2005G>ASubstitution - Missense
ZBTB1ENSG00000126804ENST00000358738p.V142Ic.424G>ASubstitution - Missense
TOP1MTENSG00000184428ENST00000329245p.A567Tc.1699G>ASubstitution - Missense
ENST00000411702p.S936Fc.2807C>TSubstitution - Missense
KCNG1ENSG00000026559ENST00000396017p.M142Ic.426G>ASubstitution - Missense
KIAA1549LENSG00000110427ENST00000265654p.A456Tc.1366G>ASubstitution - Missense
SU_KSR2p.A891Ac.2673C>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000392638p.R334Hc.1001G>ASubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.M24Lc.70A>CSubstitution - Missense
GPC2ENSG00000213420ENST00000292377p.R132Hc.395G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.Q991Pc.2972A>CSubstitution - Missense
SETD5ENSG00000168137ENST00000302463p.V146Lc.436G>CSubstitution - Missense
ENST00000376655p.H88Qc.264C>ASubstitution - Missense
DDX21ENSG00000165732ENST00000354185p.A386Dc.1157C>ASubstitution - Missense
SUCLA2ENSG00000136143ENST00000378654p.V119fs*4c.355_356insAGGAGGAGInsertion - Frameshift
WDR19ENSG00000157796ENST00000399820p.D1083Dc.3249T>CSubstitution - coding silent
TEX35ENSG00000240021ENST00000258298p.L29Vc.85T>GSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.H790Rc.2369A>GSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.H712Rc.2135A>GSubstitution - Missense
C20orf62ENSG00000168746ENST00000372910p.T79Ac.235A>GSubstitution - Missense
SESN1ENSG00000080546ENST00000436639p.D123Nc.367G>ASubstitution - Missense
SLC22A16ENSG00000004809ENST00000330550p.L4Lc.10C>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.G664Rc.1990G>CSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.D513Nc.1537G>ASubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.E649Dc.1947A>CSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.I598Vc.1792A>GSubstitution - Missense
PSDENSG00000059915ENST00000020673p.A51Vc.152C>TSubstitution - Missense
TINF2ENSG00000092330ENST00000267415p.Q414Qc.1242G>ASubstitution - coding silent
TUBGCP2ENSG00000130640ENST00000252936p.K164Kc.492G>ASubstitution - coding silent
ADAMTSL3ENSG00000156218ENST00000286744p.D1097Nc.3289G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.D1128Nc.3382G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000411752p.E118Kc.352G>ASubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.A859Ac.2577C>TSubstitution - coding silent
OR9G1ENSG00000174914ENST00000312153p.M269Tc.806T>CSubstitution - Missense
COG6ENSG00000133103ENST00000416691p.L380Lc.1140C>TSubstitution - coding silent
LRRC73ENSG00000204052ENST00000372441p.?c.657+10C>TUnknown
PVRENSG00000073008ENST00000425690p.E116Kc.346G>ASubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.Y969Cc.2906A>GSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.H61Rc.182A>GSubstitution - Missense
NM_152536.2p.Q627Qc.1881G>ASubstitution - coding silent
STX10ENSG00000104915ENST00000242770p.E62Ec.186G>ASubstitution - coding silent
CHDHENSG00000016391ENST00000315251p.H445Yc.1333C>TSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.I438Ic.1314C>TSubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.E344Qc.1030G>CSubstitution - Missense
PCSK9ENSG00000169174ENST00000302118p.?c.208-2A>GUnknown
MROH7ENSG00000184313ENST00000421030p.V259Ac.776T>CSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000378215p.P290Sc.868C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.I1580Vc.4738A>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.I598Vc.1792A>GSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.D372Nc.1114G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.W1761Gc.5281T>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L4062Rc.12185T>GSubstitution - Missense
ENST00000419043p.V180Vc.540C>TSubstitution - coding silent
ENST00000273083p.?c.2221+9C>TUnknown
CAPN14ENSG00000214711ENST00000403897p.E528Kc.1582G>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.L640Lc.1920G>ASubstitution - coding silent
SPATA21ENSG00000187144ENST00000540400p.L357Lc.1071C>TSubstitution - coding silent
ZNF709ENSG00000242852ENST00000397732p.V32Vc.96G>ASubstitution - coding silent
RNF148ENSG00000235631ENST00000434824p.M1Ic.3G>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.K633Tc.1898A>CSubstitution - Missense
NOVA1ENSG00000139910ENST00000539517p.D47Dc.141C>TSubstitution - coding silent
BNC2ENSG00000173068ENST00000380666p.E725Kc.2173G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000418777p.E682Kc.2044G>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000409623p.R91Qc.272G>ASubstitution - Missense
CYP3A5ENSG00000106258ENST00000343703p.I373Ic.1119C>TSubstitution - coding silent
LIMK1ENSG00000106683ENST00000538333p.W400*c.1200G>ASubstitution - Nonsense
HLA-AENSG00000206503ENST00000376806p.E288Kc.862G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.P1759Sc.5275C>TSubstitution - Missense
BTNL9ENSG00000165810ENST00000376842p.?c.110-1G>AUnknown
BTNL9ENSG00000165810ENST00000376841p.?c.110-1G>AUnknown
TENM2ENSG00000145934ENST00000545108p.L1880Lc.5640C>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000545108p.W1881Gc.5641T>GSubstitution - Missense
KRT20ENSG00000171431ENST00000167588p.V223Ac.668T>CSubstitution - Missense
ETS2ENSG00000157557ENST00000360214p.?c.1194+5G>TUnknown
TNS1ENSG00000079308ENST00000171887p.A564Vc.1691C>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.Y764Yc.2292C>TSubstitution - coding silent
AKAP6ENSG00000151320ENST00000280979p.L1699Fc.5095C>TSubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.H481Hc.1443T>CSubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.?c.2501-9C>TUnknown
PTPRUENSG00000060656ENST00000460170p.D1343Dc.4029C>TSubstitution - coding silent
TMEM67ENSG00000164953ENST00000453321p.R172Qc.515G>ASubstitution - Missense
C19orf57ENSG00000132016ENST00000346736p.G143Vc.428G>TSubstitution - Missense
B3GNT5ENSG00000176597ENST00000326505p.Y153Yc.459C>TSubstitution - coding silent
ZNF571ENSG00000180479ENST00000328550p.K135Tc.404A>CSubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.P164Hc.491C>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.P1953Sc.5857C>TSubstitution - Missense
NM_032121.3p.I20Ic.60C>TSubstitution - coding silent
LLGL2ENSG00000073350ENST00000392550p.G408Dc.1223G>ASubstitution - Missense
EMCNENSG00000164035ENST00000296420p.P144Rc.431C>GSubstitution - Missense
RNF185ENSG00000138942ENST00000326132p.D48Nc.142G>ASubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.R379fs*54c.1135_1136insCInsertion - Frameshift
CCNKENSG00000090061ENST00000389879p.S8Lc.23C>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.M333Vc.997A>GSubstitution - Missense
PNNENSG00000100941ENST00000216832p.S702Lc.2105C>TSubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.G835Dc.2504G>ASubstitution - Missense
GNB5ENSG00000069966ENST00000261837p.S232Sc.696C>TSubstitution - coding silent
SGPL1ENSG00000166224ENST00000373202p.T262Ac.784A>GSubstitution - Missense
OR4L1ENSG00000176246ENST00000315683p.V220Lc.658G>CSubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.?c.3567-3C>AUnknown
SCN8AENSG00000196876ENST00000354534p.A727Vc.2180C>TSubstitution - Missense
MDKENSG00000110492ENST00000395565p.G55Sc.163G>ASubstitution - Missense
ATF7IP2ENSG00000166669ENST00000396560p.E230Kc.688G>ASubstitution - Missense
HTR3DENSG00000186090ENST00000428798p.T237Ic.710C>TSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.D293Dc.879C>TSubstitution - coding silent
TNNT2ENSG00000118194ENST00000360372p.E150Kc.448G>ASubstitution - Missense
TEX35ENSG00000240021ENST00000367639p.L113Vc.337T>GSubstitution - Missense
SETDB1ENSG00000143379ENST00000498193p.?c.2501-9C>TUnknown
CDK9ENSG00000136807ENST00000373264p.L165Pc.494T>CSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.S431Fc.1292C>TSubstitution - Missense
ZYXENSG00000159840ENST00000322764p.E122Ac.365A>CSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.R393Kc.1178G>ASubstitution - Missense
UGP2ENSG00000169764ENST00000337130p.L55Vc.163C>GSubstitution - Missense
ENST00000333535_v68p.Y1950Cc.5849A>GSubstitution - Missense
CPXM1ENSG00000088882ENST00000380605p.R354Cc.1060C>TSubstitution - Missense
MRPS35ENSG00000061794ENST00000081029p.R86Qc.257G>ASubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.F92Fc.276C>TSubstitution - coding silent
ENST00000367790p.L175Lc.525C>TSubstitution - coding silent
USP54ENSG00000166348ENST00000408019p.S921Fc.2762C>TSubstitution - Missense
CAPN14ENSG00000214711ENST00000444918p.E528Kc.1582G>ASubstitution - Missense
TTC3ENSG00000182670ENST00000540756p.?c.649-7T>AUnknown
ALDH1A1ENSG00000165092ENST00000297785p.V162Ic.484G>ASubstitution - Missense
ENST00000428593p.V176Ic.526G>ASubstitution - Missense
RUNDC1ENSG00000198863ENST00000361677p.?c.857-10C>TUnknown
KAT2AENSG00000108773ENST00000225916p.K643Kc.1929G>ASubstitution - coding silent
MSH2ENSG00000095002ENST00000233146p.V605Ic.1813G>ASubstitution - Missense
LRPPRCENSG00000138095ENST00000260665p.V854fs*7c.2556_2557insAInsertion - Frameshift
HMGN3ENSG00000118418ENST00000344726p.A88Tc.262G>ASubstitution - Missense
PHIPENSG00000146247ENST00000275034p.?c.4630+7C>GUnknown
SLC31A1ENSG00000136868ENST00000374212p.N157Nc.471C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.R171Kc.512G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R201Kc.602G>ASubstitution - Missense
SPAG1ENSG00000104450ENST00000388798p.L704Lc.2112C>TSubstitution - coding silent
H2AFVENSG00000105968ENST00000308153p.L118fs*>11c.352_353delCTDeletion - Frameshift
OR2A7ENSG00000243896ENST00000493325p.I173fs*42c.517delADeletion - Frameshift
DOCK4ENSG00000128512ENST00000437633p.P1450Sc.4348C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.E288Kc.862G>ASubstitution - Missense
HIST1H4JENSG00000197238ENST00000355057p.R41Hc.122G>ASubstitution - Missense
ENST00000388903p.L1714Lc.5142C>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.W1882Gc.5644T>GSubstitution - Missense
ENST00000388903p.W1715Gc.5143T>GSubstitution - Missense
SPARCENSG00000113140ENST00000231061p.R218Wc.652C>TSubstitution - Missense
ARSIENSG00000183876ENST00000328668p.R491Hc.1472G>ASubstitution - Missense
CDK13ENSG00000065883ENST00000181839p.S1065Fc.3194C>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000392006p.P404Sc.1210C>TSubstitution - Missense
ZBTB7AENSG00000178951ENST00000322357p.C490Cc.1470C>TSubstitution - coding silent
TGENSG00000042832ENST00000220616p.V2101Mc.6301G>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.V1006Lc.3016G>TSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.V1006Lc.3016G>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.V371Vc.1113G>ASubstitution - coding silent
SGSM1ENSG00000167037ENST00000400359p.R60Qc.179G>ASubstitution - Missense
SRP72ENSG00000174780ENST00000342756p.E359Kc.1075G>ASubstitution - Missense
EMILIN3ENSG00000183798ENST00000332312p.V378Mc.1132G>ASubstitution - Missense
SLC27A1ENSG00000130304ENST00000442725p.F317Lc.951C>ASubstitution - Missense
SLC27A1ENSG00000130304ENST00000252595p.F317Lc.951C>ASubstitution - Missense
DDA1ENSG00000130311ENST00000359866p.?c.198+3G>AUnknown
EPS15L1ENSG00000127527ENST00000248070p.S49Lc.146C>TSubstitution - Missense
OR1I1ENSG00000094661ENST00000209540p.T231Tc.693T>GSubstitution - coding silent
NM_014353.3p.P190Sc.568C>TSubstitution - Missense
CCDC122ENSG00000151773ENST00000281508p.L191Lc.573A>GSubstitution - coding silent
KRT80ENSG00000167767ENST00000313234p.V231Vc.693G>ASubstitution - coding silent
BTBD11ENSG00000151136ENST00000357167p.E440Kc.1318G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.D557Yc.1669G>TSubstitution - Missense
PWWP2BENSG00000171813ENST00000368609p.S343Sc.1029C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000400992p.G133Gc.399C>GSubstitution - coding silent
RHBGENSG00000132677ENST00000451864p.G133Gc.399C>GSubstitution - coding silent
ENPP5ENSG00000112796ENST00000371383p.W40*c.120G>ASubstitution - Nonsense
ANXA10ENSG00000109511ENST00000359299p.?c.481-1G>AUnknown
HTR3DENSG00000186090ENST00000382489p.T285Ic.854C>TSubstitution - Missense
HTR3DENSG00000186090ENST00000334128p.T112Ic.335C>TSubstitution - Missense
PKN3ENSG00000160447ENST00000291906p.P834Hc.2501C>ASubstitution - Missense
TTC29ENSG00000137473ENST00000513335p.D446Ec.1338T>ASubstitution - Missense
MED12LENSG00000144893ENST00000309237p.E554Ac.1661A>CSubstitution - Missense
ITGAVENSG00000138448ENST00000433736p.Q676Qc.2028A>GSubstitution - coding silent
ENST00000263817_v70p.S22Tc.64T>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.Q1069Pc.3206A>CSubstitution - Missense
TTC3ENSG00000182670ENST00000540756p.?c.649-5G>AUnknown
EPS15L1ENSG00000127527ENST00000455140p.S49Lc.146C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.L3544Lc.10632C>TSubstitution - coding silent
ITGB3ENSG00000259207ENST00000559488p.A729Tc.2185G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.C847Fc.2540G>TSubstitution - Missense
VPS39ENSG00000166887ENST00000348544p.L416Lc.1248G>ASubstitution - coding silent
RPGRIP1ENSG00000092200ENST00000206660p.E1044Ec.3132G>ASubstitution - coding silent
MROH7ENSG00000184313ENST00000339553p.V259Ac.776T>CSubstitution - Missense
ENST00000371287p.Q60Rc.179A>GSubstitution - Missense
ETS2ENSG00000157557ENST00000360214p.?c.1194+5G>TUnknown
PIK3C3ENSG00000078142ENST00000262039p.F214Fc.642C>TSubstitution - coding silent
MYOM1ENSG00000101605ENST00000356443p.L15Fc.43C>TSubstitution - Missense
ENST00000436173p.F1101Ic.3301T>ASubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.S887Fc.2660C>TSubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.S887Fc.2660C>TSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.E15Ec.45G>ASubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.P530Pc.1590C>TSubstitution - coding silent
SLCO4A1ENSG00000101187ENST00000370507p.R549Qc.1646G>ASubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.N447Nc.1341C>TSubstitution - coding silent
TCF25ENSG00000141002ENST00000263346p.P473Pc.1419C>TSubstitution - coding silent
MICAL3ENSG00000243156ENST00000441493p.L524Lc.1572G>ASubstitution - coding silent
MICAL3ENSG00000243156ENST00000207726p.L524Lc.1572G>ASubstitution - coding silent
BRSK1ENSG00000160469ENST00000309383p.R379fs*54c.1135_1136insCInsertion - Frameshift
ENST00000309305p.D118Nc.352G>ASubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.L746Fc.2236C>TSubstitution - Missense
TBXAS1ENSG00000059377ENST00000416849p.?c.1506-10G>AUnknown
TBXAS1ENSG00000059377ENST00000263552p.?c.1368-10G>AUnknown
MED12LENSG00000144893ENST00000474524p.E554Ac.1661A>CSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.Q868Qc.2604G>ASubstitution - coding silent
EXOC6BENSG00000144036ENST00000272427p.M376Tc.1127T>CSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.R985Rc.2953A>CSubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-1G>TUnknown
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
STPG2ENSG00000163116ENST00000295268p.S289Fc.866C>TSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.Y1950Cc.5849A>GSubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.Y1950Cc.5849A>GSubstitution - Missense
KLF11ENSG00000172059ENST00000305883p.P483Lc.1448C>TSubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.G408Dc.1223G>ASubstitution - Missense
FDXRENSG00000161513ENST00000581530p.?c.610-4C>AUnknown
FDXRENSG00000161513ENST00000581530p.?c.610-4C>AUnknown
ZNF606ENSG00000166704ENST00000341164p.E649Dc.1947A>CSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.S238Ic.713G>TSubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.A930Vc.2789C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.Q1060Pc.3179A>CSubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.P30Pc.90T>CSubstitution - coding silent
MORC2ENSG00000133422ENST00000397641p.P92Pc.276T>CSubstitution - coding silent
NEFHENSG00000100285ENST00000310624p.P705Hc.2114C>ASubstitution - Missense
UCKL1ENSG00000198276ENST00000354216p.G490Gc.1470C>TSubstitution - coding silent
KCNK17ENSG00000124780ENST00000373231p.G271Gc.813G>ASubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.P1774Sc.5320C>TSubstitution - Missense
MAP4ENSG00000047849ENST00000264724p.L277Lc.831G>ASubstitution - coding silent
KIAA1324LENSG00000164659ENST00000450689p.A889Vc.2666C>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.A649Vc.1946C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.F413Fc.1239C>TSubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.N1270Nc.3810C>TSubstitution - coding silent
FOXF2ENSG00000137273ENST00000259806p.F137Fc.411C>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.G664Rc.1990G>CSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.V371Lc.1111G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.L1581Lc.4743G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000261368p.Q455Kc.1363C>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000379533p.Q502Kc.1504C>ASubstitution - Missense
PPARGC1AENSG00000109819ENST00000264867p.L88Vc.262T>GSubstitution - Missense
TTC29ENSG00000137473ENST00000325106p.D420Ec.1260T>ASubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.L712Lc.2136G>ASubstitution - coding silent
GOLGB1ENSG00000173230ENST00000340645p.K1465Mc.4394A>TSubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.P154Sc.460C>TSubstitution - Missense
CD19ENSG00000177455ENST00000324662p.Q512Hc.1536G>TSubstitution - Missense
DHDHENSG00000104808ENST00000221403p.V101Ac.302T>CSubstitution - Missense
MAGT1ENSG00000102158ENST00000358075p.I52Ic.156C>TSubstitution - coding silent
TROENSG00000067445ENST00000173898p.?c.1657+4A>GUnknown
TROENSG00000067445ENST00000319167p.?c.1657+4A>GUnknown
DMRTA1ENSG00000176399ENST00000325870p.S475Lc.1424C>TSubstitution - Missense
ENST00000419043p.W434*c.1302G>ASubstitution - Nonsense
RASAL2ENSG00000075391ENST00000462775p.S887Sc.2661C>TSubstitution - coding silent
RASAL2ENSG00000075391ENST00000367649p.S1028Sc.3084C>TSubstitution - coding silent
TEX35ENSG00000240021ENST00000319416p.L105Vc.313T>GSubstitution - Missense
TEX35ENSG00000240021ENST00000367643p.L105Vc.313T>GSubstitution - Missense
TEX35ENSG00000240021ENST00000367641p.L105Vc.313T>GSubstitution - Missense
EPHA2ENSG00000142627ENST00000358432p.R315Wc.943C>TSubstitution - Missense
TNNT2ENSG00000118194ENST00000367322p.E155Kc.463G>ASubstitution - Missense
TNNT2ENSG00000118194ENST00000458432p.E167Kc.499G>ASubstitution - Missense
S100A5ENSG00000196420ENST00000359215p.L47Lc.141G>ASubstitution - coding silent
CYFIP1ENSG00000068793ENST00000435939p.A343Ec.1028C>ASubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.Q991Rc.2972A>GSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.V259Ac.776T>CSubstitution - Missense
AGBL4ENSG00000186094ENST00000371839p.E458Kc.1372G>ASubstitution - Missense
UQCRHENSG00000173660ENST00000311672p.E24Kc.70G>ASubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.R367Qc.1100G>ASubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.G135Gc.405G>TSubstitution - coding silent
SPATA21ENSG00000187144ENST00000335496p.L380Lc.1140C>TSubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.?c.2501-9C>TUnknown
ENST00000334821p.S32Sc.96C>TSubstitution - coding silent
SLC22A8ENSG00000149452ENST00000336232p.T104Ic.311C>TSubstitution - Missense
ENST00000398860p.D1045Yc.3133G>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.C847Fc.2540G>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.C847Fc.2540G>TSubstitution - Missense
ALKBH1ENSG00000100601ENST00000216489p.R53Hc.158G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.A682Tc.2044G>ASubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.T250Nc.749C>ASubstitution - Missense
NM_006293p.V661Mc.1981G>ASubstitution - Missense
GBP2ENSG00000162645ENST00000370466p.?c.1150-9A>TUnknown
ATG2BENSG00000066739ENST00000359933p.V2039Vc.6117G>TSubstitution - coding silent
EFCAB7ENSG00000203965ENST00000371088p.V606Ic.1816G>ASubstitution - Missense
CNKSR1ENSG00000142675ENST00000361530p.L41Rc.122T>GSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.S1454Fc.4361C>TSubstitution - Missense
PRAMEF10ENSG00000187545ENST00000235347p.P454Pc.1362C>TSubstitution - coding silent
DDX55ENSG00000111364ENST00000238146p.F181Cc.542T>GSubstitution - Missense
CD151ENSG00000177697ENST00000397420p.E251Kc.751G>ASubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.I871Vc.2611A>GSubstitution - Missense
KCNS2ENSG00000156486ENST00000287042p.M204Tc.611T>CSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.I438Ic.1314C>TSubstitution - coding silent
MAGI1ENSG00000151276ENST00000402939p.P807Pc.2421A>GSubstitution - coding silent
MAGI1ENSG00000151276ENST00000483466p.P835Pc.2505A>GSubstitution - coding silent
UHRF2ENSG00000147854ENST00000276893p.E30Dc.90G>CSubstitution - Missense
LENG9ENSG00000182909ENST00000333834p.A410Tc.1228G>ASubstitution - Missense
S1PR4ENSG00000125910ENST00000246115p.A114Tc.340G>ASubstitution - Missense
ENST00000452401p.V23Vc.69G>CSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.F622Fc.1866C>TSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.F622Fc.1866C>TSubstitution - coding silent
MIEF2ENSG00000177427ENST00000323019p.G366Dc.1097G>ASubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.I409Tc.1226T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.?c.42699+9T>CUnknown
MCPH1ENSG00000147316ENST00000344683p.G641Rc.1921G>CSubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.A689Vc.2066C>TSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.S29Sc.87C>TSubstitution - coding silent
TNS1ENSG00000079308ENST00000446903p.S154Sc.462C>TSubstitution - coding silent
CPS1ENSG00000021826ENST00000430249p.A1179Sc.3535G>TSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.A1173Sc.3517G>TSubstitution - Missense
CRYGBENSG00000182187ENST00000260988p.M172Ic.516G>ASubstitution - Missense
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
TTC3ENSG00000182670ENST00000354749p.?c.1579-7T>AUnknown
TTC3ENSG00000182670ENST00000354749p.?c.1579-5G>AUnknown
KRTAP15-1ENSG00000186970ENST00000334067p.S104Yc.311C>ASubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.S227Sc.681G>TSubstitution - coding silent
C16orf71ENSG00000166246ENST00000299320p.Y46Cc.137A>GSubstitution - Missense
UTP3ENSG00000132467ENST00000254803p.E438Kc.1312G>ASubstitution - Missense
SETD5ENSG00000168137ENST00000402198p.V244Lc.730G>CSubstitution - Missense
LILRB4ENSG00000186818ENST00000391736p.P407Sc.1219C>TSubstitution - Missense
TPRG1ENSG00000188001ENST00000345063p.E75Kc.223G>ASubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.Q1154*c.3460C>TSubstitution - Nonsense
CR1ENSG00000203710ENST00000367049p.E2220*c.6658G>TSubstitution - Nonsense
CR1ENSG00000203710ENST00000400960p.E1770*c.5308G>TSubstitution - Nonsense
ZNF266ENSG00000174652ENST00000361151p.R536Qc.1607G>ASubstitution - Missense
STON2ENSG00000140022ENST00000267540p.R743Hc.2228G>ASubstitution - Missense
MYOGENSG00000122180ENST00000241651p.E31Kc.91G>ASubstitution - Missense
LCLAT1ENSG00000172954ENST00000309052p.R287Wc.859C>TSubstitution - Missense
TCTN1ENSG00000204852ENST00000397655p.E254Kc.760G>ASubstitution - Missense
GPN3ENSG00000111231ENST00000543199p.F229Sc.686T>CSubstitution - Missense
GPN3ENSG00000111231ENST00000228827p.F190Sc.569T>CSubstitution - Missense
BTBD11ENSG00000151136ENST00000280758p.E903Kc.2707G>ASubstitution - Missense
CCDC122ENSG00000151773ENST00000444614p.L191Lc.573A>GSubstitution - coding silent
KBTBD6ENSG00000165572ENST00000379485p.L214fs*16c.640_641delCTDeletion - Frameshift
COG6ENSG00000133103ENST00000455146p.L380Lc.1140C>TSubstitution - coding silent
EIF4BENSG00000063046ENST00000262056p.E527Kc.1579G>ASubstitution - Missense
CER1ENSG00000147869ENST00000380911p.V179Lc.535G>TSubstitution - Missense
NOVA1ENSG00000139910ENST00000344429p.D47Dc.141C>TSubstitution - coding silent
TRMT61BENSG00000171103ENST00000306108p.D416Nc.1246G>ASubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.T664Mc.1991C>TSubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.R172Qc.515G>ASubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.R477Hc.1430G>ASubstitution - Missense
BCS1LENSG00000074582ENST00000392109p.R144Qc.431G>ASubstitution - Missense
POTEEENSG00000188219ENST00000356920p.A296Vc.887C>TSubstitution - Missense
POTEEENSG00000188219ENST00000358087p.A306Vc.917C>TSubstitution - Missense
NM_017449p.M24Lc.70A>CSubstitution - Missense
EPHB2ENSG00000133216ENST00000374627p.M18Lc.52A>CSubstitution - Missense
COG2ENSG00000135775ENST00000366669p.F17Lc.49T>CSubstitution - Missense
POC1BENSG00000139323ENST00000313546p.S161Lc.482C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A2102Pc.6304G>CSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.R957Rc.2869A>CSubstitution - coding silent
ZNF202ENSG00000166261ENST00000336139p.E87Kc.259G>ASubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.E1483Kc.4447G>ASubstitution - Missense
ENAHENSG00000154380ENST00000366844p.D385Nc.1153G>ASubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.F164Cc.491T>GSubstitution - Missense
ZNF487ENSG00000243660ENST00000431662p.Y286Hc.856T>CSubstitution - Missense
ZNF25ENSG00000175395ENST00000302609p.D147Dc.441C>TSubstitution - coding silent
SPRY2ENSG00000136158ENST00000377104p.R104*c.310C>TSubstitution - Nonsense
CCDC28BENSG00000160050ENST00000373602p.H103Yc.307C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.D1343Dc.4029C>TSubstitution - coding silent
CDK8ENSG00000132964ENST00000381527p.E12Kc.34G>ASubstitution - Missense
CHUKENSG00000213341ENST00000370397p.E496Dc.1488G>TSubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.Q446Qc.1338G>ASubstitution - coding silent
ENST00000368577p.E477Ec.1431G>ASubstitution - coding silent
PWWP2BENSG00000171813ENST00000305233p.S343Sc.1029C>TSubstitution - coding silent
MRPL46ENSG00000259494ENST00000312475p.K216Kc.648G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.L1551Lc.4653A>GSubstitution - coding silent
KRT84ENSG00000161849ENST00000257951p.A428Vc.1283C>TSubstitution - Missense
KRT80ENSG00000167767ENST00000394815p.V231Vc.693G>ASubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.G147Gc.441C>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.Q3281fs*49c.9841delCDeletion - Frameshift
BCL9ENSG00000116128ENST00000234739p.E482Kc.1444G>ASubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.R1733Wc.5197C>TSubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.A456Tc.1366G>ASubstitution - Missense
MPPED2ENSG00000066382ENST00000448418p.V259Ec.776T>ASubstitution - Missense
MUC15ENSG00000169550ENST00000455601p.N148Kc.444C>ASubstitution - Missense
ACAT1ENSG00000075239ENST00000265838p.E25Dc.75A>TSubstitution - Missense
CASP5ENSG00000137757ENST00000393141p.?c.583-15_583-1delctccatctcctgcagUnknown
NM_004347.1p.?c.496-15_496-1delctccatctcctgcagUnknown
KIAA1377ENSG00000110318ENST00000263468p.?c.3035-5T>CUnknown
ENST00000298815_v65p.E506Ec.1518G>ASubstitution - coding silent
TMPRSS13ENSG00000137747ENST00000524993p.K479Kc.1437A>GSubstitution - coding silent
ENST00000263528p.S1017Sc.3051C>TSubstitution - coding silent


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID