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NAMALWA - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1319 mutations reported
463 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
FLNBENSG00000136068ENST00000357272p.L1212Fc.3634C>TSubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.W333Lc.998G>TSubstitution - Missense
NM_012197.2p.S372Rc.1116C>ASubstitution - Missense
CCDC105ENSG00000160994ENST00000292574p.E345Dc.1035G>TSubstitution - Missense
ENST00000367790p.A156Tc.466G>ASubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.S231Sc.693G>TSubstitution - coding silent
SEMA4AENSG00000196189ENST00000368285p.D748Nc.2242G>ASubstitution - Missense
GYLTL1BENSG00000165905ENST00000325468p.H352Hc.1056T>CSubstitution - coding silent
REREENSG00000142599ENST00000400908p.R1192Rc.3574C>ASubstitution - coding silent
OR4M2ENSG00000182974ENST00000332663p.Y35Cc.104A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.N393Kc.1179C>ASubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.C510Fc.1529G>TSubstitution - Missense
DICER1ENSG00000100697ENST00000343455p.N984Ic.2951A>TSubstitution - Missense
MAXENSG00000125952ENST00000358664p.K104Nc.312G>CSubstitution - Missense
ENST00000271311_v71p.R225Wc.673C>TSubstitution - Missense
DPTENSG00000143196ENST00000367817p.?c.431+6T>GUnknown
ZNF365ENSG00000138311ENST00000395255p.G299Gc.897C>ASubstitution - coding silent
DALRD3ENSG00000178149ENST00000341949p.H194Rc.581A>GSubstitution - Missense
RHOHENSG00000168421ENST00000505618p.K189Rc.566A>GSubstitution - Missense
AFAP1ENSG00000196526ENST00000360265p.C395*c.1185C>ASubstitution - Nonsense
SMARCA4ENSG00000127616ENST00000429416p.P1447_K1450delPAEKc.4339_4350del12Deletion - In frame
NM_015461.1p.S1069Yc.3206C>ASubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.I523Tc.1568T>CSubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.F1297Lc.3891C>ASubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.P52Pc.156C>ASubstitution - coding silent
TEX13BENSG00000170925ENST00000302917p.A191Vc.572C>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000396592p.I379Fc.1135A>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.A1454Tc.4360G>ASubstitution - Missense
MLPHENSG00000115648ENST00000264605p.E391Vc.1172A>TSubstitution - Missense
CLEC4FENSG00000152672ENST00000272367p.R444Cc.1330C>TSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.V272Lc.814G>TSubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.T714Tc.2142T>GSubstitution - coding silent
ENST00000278882_v61p.K111*c.331A>TSubstitution - Nonsense
DNMT3BENSG00000088305ENST00000328111p.E216Gc.647A>GSubstitution - Missense
PMAIP1ENSG00000141682ENST00000316660p.D34Gc.101A>GSubstitution - Missense
ZNF792ENSG00000180884ENST00000404801p.C399Cc.1197T>CSubstitution - coding silent
MAPK11ENSG00000185386ENST00000330651p.V290Mc.868G>ASubstitution - Missense
PPARDENSG00000112033ENST00000360694p.R361Qc.1082G>ASubstitution - Missense
MOCS1ENSG00000124615ENST00000373186p.V328Vc.984C>ASubstitution - coding silent
DCCENSG00000187323ENST00000412726p.V312Ic.934G>ASubstitution - Missense
PDGFRAENSG00000134853ENST00000257290p.V421Vc.1263C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.L1212Fc.3634C>TSubstitution - Missense
CPA6ENSG00000165078ENST00000297770p.P342Pc.1026C>ASubstitution - coding silent
HOXB13ENSG00000159184ENST00000290295p.E257Kc.769G>ASubstitution - Missense
SP110ENSG00000135899ENST00000540870p.Q396fs*6c.1186delCDeletion - Frameshift
ACVR2BENSG00000114739ENST00000352511p.E23Kc.67G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.A253Ac.759C>TSubstitution - coding silent
BCORENSG00000183337ENST00000397354p.R243Lc.728G>TSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.D1850Gc.5549A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2858Fc.8573C>TSubstitution - Missense
SLC5A1ENSG00000100170ENST00000266088p.K305Kc.915G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.?c.38725+4C>TUnknown
MOXD1ENSG00000079931ENST00000336749p.E289Dc.867G>CSubstitution - Missense
ETV4ENSG00000175832ENST00000319349p.P117Sc.349C>TSubstitution - Missense
POTEEENSG00000188219ENST00000356920p.R136Hc.407G>ASubstitution - Missense
POTEFENSG00000196604ENST00000409914p.N79Nc.237C>TSubstitution - coding silent
FBXO36ENSG00000153832ENST00000283946p.?c.378+5C>TUnknown
INPP5DENSG00000168918ENST00000359570p.D186Gc.557A>GSubstitution - Missense
UGT1A7ENSG00000244122ENST00000373426p.P60Lc.179C>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.T2623Mc.7868C>TSubstitution - Missense
OR4C46ENSG00000185926ENST00000328188p.T46Pc.136A>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.S2207Sc.6621C>TSubstitution - coding silent
EIF4E1BENSG00000175766ENST00000318682p.K34Nc.102G>TSubstitution - Missense
ENST00000316490_v65p.Y289Cc.866A>GSubstitution - Missense
ENST00000316490p.Y289Cc.866A>GSubstitution - Missense
MAMLD1ENSG00000013619ENST00000370401p.A121Tc.361G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.I1129Tc.3386T>CSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.G914Rc.2740G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.I379Fc.1135A>TSubstitution - Missense
OR13C2ENSG00000257019ENST00000542196p.F177Sc.530T>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.G299Gc.897C>ASubstitution - coding silent
TMCC3ENSG00000057704ENST00000261226p.T431Ac.1291A>GSubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.F182Fc.546C>TSubstitution - coding silent
SLC2A3ENSG00000059804ENST00000075120p.?c.673+3_673+6delgagtUnknown
FOXRED1ENSG00000110074ENST00000263578p.R17Rc.51G>TSubstitution - coding silent
TMEM254ENSG00000133678ENST00000450179p.?c.19+4_19+5insTUnknown
MYO16ENSG00000041515ENST00000357550p.L642Lc.1924T>CSubstitution - coding silent
WACENSG00000095787ENST00000354911p.T244Pc.730A>CSubstitution - Missense
BLMENSG00000197299ENST00000355112p.?c.2556-8T>AUnknown
RHBDF1ENSG00000007384ENST00000262316p.W292Lc.875G>TSubstitution - Missense
DCCENSG00000187323ENST00000442544p.V464Ic.1390G>ASubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.C1328Fc.3983G>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.N699fs*9c.2091delADeletion - Frameshift
KRTAP10-1ENSG00000215455ENST00000400375p.S249Pc.745T>CSubstitution - Missense
DSG4ENSG00000175065ENST00000359747p.P647Pc.1941A>CSubstitution - coding silent
FLOT2ENSG00000132589ENST00000394908p.A139Sc.415G>TSubstitution - Missense
FAM3DENSG00000198643ENST00000358781p.A67Ac.201G>ASubstitution - coding silent
MINK1ENSG00000141503ENST00000355280p.P571Pc.1713G>ASubstitution - coding silent
CATSPER4ENSG00000188782ENST00000456354p.H91Yc.271C>TSubstitution - Missense
SPRENSG00000116096ENST00000234454p.V153Gc.458T>GSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.M193fs*14c.571_572insAInsertion - Frameshift
SHANK3ENSG00000251322ENST00000262795p.T1394Tc.4182G>ASubstitution - coding silent
ZNF211ENSG00000121417ENST00000240731p.A34Dc.101C>ASubstitution - Missense
CRYBG3ENSG00000080200ENST00000182096p.R424Rc.1270A>CSubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.S1976Sc.5928C>TSubstitution - coding silent
ZNF792ENSG00000180884ENST00000404801p.H253Qc.759T>ASubstitution - Missense
ZNF211ENSG00000121417ENST00000407202p.H174Qc.522T>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.R771fs*17c.2311delADeletion - Frameshift
ROR2ENSG00000169071ENST00000375708p.H743Yc.2227C>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.A640Sc.1918G>TSubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.N345Nc.1035T>CSubstitution - coding silent
IFNA10ENSG00000186803ENST00000357374p.S51Cc.152C>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.D472Dc.1416C>TSubstitution - coding silent
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
MPP2ENSG00000108852ENST00000461854p.T558Kc.1673C>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.K1044Nc.3132G>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.R1021Qc.3062G>ASubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.P187Sc.559C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.D2232Nc.6694G>ASubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.I752Fc.2254A>TSubstitution - Missense
TFECENSG00000105967ENST00000393485p.D113fs*7c.335_336insAInsertion - Frameshift
ERI3ENSG00000117419ENST00000456170p.G194Gc.582C>ASubstitution - coding silent
IGSF9ENSG00000085552ENST00000368094p.A463Tc.1387G>ASubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.S231Sc.693G>TSubstitution - coding silent
UHRF1BP1LENSG00000111647ENST00000279907p.A1056Vc.3167C>TSubstitution - Missense
TFECENSG00000105967ENST00000265440p.D142fs*7c.422_423insAInsertion - Frameshift
OR4M2ENSG00000182974ENST00000332663p.F94Yc.281T>ASubstitution - Missense
ENST00000298047_v61p.?c.3984+8C>TUnknown
KCNT2ENSG00000162687ENST00000294725p.L916Lc.2748G>TSubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.L876Lc.2628C>TSubstitution - coding silent
RBM19ENSG00000122965ENST00000392561p.T665Sc.1993A>TSubstitution - Missense
FAM63AENSG00000143409ENST00000361936p.L188Ic.562C>ASubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.L727Lc.2181T>CSubstitution - coding silent
TEX2ENSG00000136478ENST00000258991p.H533Nc.1597C>ASubstitution - Missense
SU_KSR1p.R864Wc.2590C>TSubstitution - Missense
SLC13A2ENSG00000007216ENST00000314669p.L54Lc.162G>ASubstitution - coding silent
BAG1ENSG00000107262ENST00000472232p.A49Gc.146C>GSubstitution - Missense
ENST00000429478p.G1137Wc.3409G>TSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.F892Lc.2676C>ASubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.S386Pc.1156T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.?c.19810+4C>TUnknown
NM_003319p.?c.19234+4C>TUnknown
DALRD3ENSG00000178149ENST00000395462p.H27Rc.80A>GSubstitution - Missense
C9orf64ENSG00000165118ENST00000376344p.L159Lc.477G>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.S258Pc.772T>CSubstitution - Missense
TMEM246ENSG00000165152ENST00000374848p.R13Wc.37C>TSubstitution - Missense
FOXO3ENSG00000118689ENST00000343882p.S505Sc.1515C>TSubstitution - coding silent
MOCS1ENSG00000124615ENST00000340692p.V328Vc.984C>ASubstitution - coding silent
C4orf29ENSG00000164074ENST00000398965p.G115Vc.344G>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.D439Dc.1317C>TSubstitution - coding silent
TRAF7ENSG00000131653ENST00000326181p.T610Tc.1830G>ASubstitution - coding silent
LNX1ENSG00000072201ENST00000263925p.L587Fc.1759C>TSubstitution - Missense
VSTM2AENSG00000170419ENST00000407838p.P205Hc.614C>ASubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.F1216Fc.3648T>CSubstitution - coding silent
PCDHB15ENSG00000113248ENST00000231173p.F701Fc.2103C>TSubstitution - coding silent
LRRC34ENSG00000171757ENST00000316515p.N220Yc.658A>TSubstitution - Missense
LRRIQ4ENSG00000188306ENST00000340806p.R502fs*27c.1504_1505delAGDeletion - Frameshift
ZNF618ENSG00000157657ENST00000288466p.F753Fc.2259C>TSubstitution - coding silent
CACNA1BENSG00000148408ENST00000277549p.F764Fc.2292T>CSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.N1008Kc.3024C>ASubstitution - Missense
DCBLD2ENSG00000057019ENST00000326857p.C99Fc.296G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.Y879Cc.2636A>GSubstitution - Missense
GPAMENSG00000119927ENST00000348367p.T71Ic.212C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S2987Lc.8960C>TSubstitution - Missense
OR4D5ENSG00000171014ENST00000307033p.T219Kc.656C>ASubstitution - Missense
TNFSF11ENSG00000120659ENST00000239849p.D174Nc.520G>ASubstitution - Missense
BCAR3ENSG00000137936ENST00000370247p.Y19Cc.56A>GSubstitution - Missense
ENST00000355290p.R184Lc.551G>TSubstitution - Missense
ZNF770ENSG00000198146ENST00000356321p.N599Ic.1796A>TSubstitution - Missense
DIS3LENSG00000166938ENST00000319212p.T426Ac.1276A>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.P2751Sc.8251C>TSubstitution - Missense
TOR3AENSG00000186283ENST00000367627p.P204Tc.610C>ASubstitution - Missense
MAGI3ENSG00000081026ENST00000307546p.D819Ec.2457C>ASubstitution - Missense
CD53ENSG00000143119ENST00000271324p.T189fs*6c.565delADeletion - Frameshift
DYNC2H1ENSG00000187240ENST00000398093p.L810fs*35c.2425delTDeletion - Frameshift
ENST00000273600p.R3140Tc.9419G>CSubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.L829Lc.2487G>CSubstitution - coding silent
C21orf88ENSG00000184809ENST00000380612p.G43Ec.128G>ASubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.S453Lc.1358C>TSubstitution - Missense
TTC22ENSG00000006555ENST00000371276p.?c.624-8G>AUnknown
WDR47ENSG00000085433ENST00000400794p.E436Ac.1307A>CSubstitution - Missense
ART5ENSG00000167311ENST00000397067p.S164Sc.492C>TSubstitution - coding silent
WDR47ENSG00000085433ENST00000369965p.E429Ac.1286A>CSubstitution - Missense
SIRT3ENSG00000142082ENST00000382743p.L347Fc.1041G>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.S2201Sc.6603C>TSubstitution - coding silent
CNSTENSG00000162852ENST00000366513p.E379Kc.1135G>ASubstitution - Missense
C10orf76ENSG00000120029ENST00000370033p.P20Pc.60A>GSubstitution - coding silent
SLC13A2ENSG00000007216ENST00000444914p.L54Lc.162G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.?c.6380-8C>AUnknown
GOLGA5ENSG00000066455ENST00000163416p.G21Gc.63G>ASubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.P1501Pc.4503C>GSubstitution - coding silent
ZFAND1ENSG00000104231ENST00000220669p.Q258Kc.772C>ASubstitution - Missense
PDGFRLENSG00000104213ENST00000251630p.V194Ac.581T>CSubstitution - Missense
KLHL5ENSG00000109790ENST00000504108p.M687Ic.2061G>CSubstitution - Missense
HTTENSG00000197386ENST00000355072p.G1389*c.4165G>TSubstitution - Nonsense
TOPAZ1ENSG00000173769ENST00000309765p.R468Wc.1402C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.K1044Nc.3132G>TSubstitution - Missense
IFNA10ENSG00000186803ENST00000357374p.L38Fc.114G>TSubstitution - Missense
FAAH2ENSG00000165591ENST00000374900p.C67Rc.199T>CSubstitution - Missense
BOCENSG00000144857ENST00000355385p.?c.2963+5C>AUnknown
LPAENSG00000198670ENST00000316300p.T843Tc.2529T>ASubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.?c.523+5G>TUnknown
CPENSG00000047457ENST00000264613p.L897Lc.2691G>ASubstitution - coding silent
PRKAR1AENSG00000108946ENST00000358598p.?c.441-8T>GUnknown
NRG1ENSG00000157168ENST00000356819p.M457Ic.1371G>TSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.I1017Tc.3050T>CSubstitution - Missense
MRPS18BENSG00000204568ENST00000259873p.H111Pc.332A>CSubstitution - Missense
GRPEL2ENSG00000164284ENST00000329271p.D51Gc.152A>GSubstitution - Missense
PANX3ENSG00000154143ENST00000284288p.C66*c.198C>ASubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
KCNN2ENSG00000080709ENST00000503706p.R105Qc.314G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000455322p.A1410Tc.4228G>ASubstitution - Missense
RBM25ENSG00000119707ENST00000261973p.C612Yc.1835G>ASubstitution - Missense
ENST00000368089_v71p.Q212Hc.636G>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.L1114Lc.3342G>TSubstitution - coding silent
C10orf2ENSG00000107815ENST00000311916p.I367Ic.1101C>TSubstitution - coding silent
REC8ENSG00000100918ENST00000311457p.?c.1317-3_1317-2insCCTUnknown
FCRL1ENSG00000163534ENST00000358292p.T200Sc.599C>GSubstitution - Missense
RAB40ALENSG00000102128ENST00000218249p.Q73Kc.217C>ASubstitution - Missense
TVP23CENSG00000175106ENST00000518321p.I49Vc.145A>GSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.E200*c.598G>TSubstitution - Nonsense
TPM1ENSG00000140416ENST00000334895p.A147Ac.441T>CSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000368339p.I231Tc.692T>CSubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.K515Ic.1544A>TSubstitution - Missense
PRSS23ENSG00000150687ENST00000280258p.A248Ac.744C>TSubstitution - coding silent
ZNF664ENSG00000179195ENST00000337815p.K29Nc.87G>TSubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.E1095Ec.3285G>ASubstitution - coding silent
LRRD1ENSG00000240720ENST00000458448p.C436Sc.1306T>ASubstitution - Missense
CLGNENSG00000153132ENST00000325617p.V26Ac.77T>CSubstitution - Missense
CD2BP2ENSG00000169217ENST00000305596p.S60Fc.179C>TSubstitution - Missense
UFSP1ENSG00000176125ENST00000388761p.A69Vc.206C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.R492Mc.1475G>TSubstitution - Missense
HSF4ENSG00000102878ENST00000264009p.S253Rc.757A>CSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.?c.2116-8T>AUnknown
HYDINENSG00000157423ENST00000321489p.Y347Hc.1039T>CSubstitution - Missense
BRD4ENSG00000141867ENST00000371835p.A526Ac.1578A>GSubstitution - coding silent
SLC2A10ENSG00000197496ENST00000359271p.S380Yc.1139C>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.T2671Tc.8013G>ASubstitution - coding silent
SIL1ENSG00000120725ENST00000394817p.A346Tc.1036G>ASubstitution - Missense
ENST00000305759p.P614Pc.1842G>TSubstitution - coding silent
GOLIM4ENSG00000173905ENST00000470487p.N269Sc.806A>GSubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.S468Lc.1403C>TSubstitution - Missense
ENST00000274361_v65p.P346Tc.1036C>ASubstitution - Missense
ZNF214ENSG00000149050ENST00000278314p.?c.127+6G>AUnknown
ENST00000557886_v68p.N167Sc.500A>GSubstitution - Missense
C11orf63ENSG00000109944ENST00000227349p.?c.978+9C>AUnknown
ENST00000299644p.L135Rc.404T>GSubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.R1207Qc.3620G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.D122Yc.364G>TSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.E369Ec.1107G>ASubstitution - coding silent
DENND2AENSG00000146966ENST00000275884p.P124Pc.372G>ASubstitution - coding silent
DLGAP1ENSG00000170579ENST00000539435p.R70Wc.208C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R6312Hc.18935G>ASubstitution - Missense
MINK1ENSG00000141503ENST00000347992p.P571Pc.1713G>ASubstitution - coding silent
LRRC59ENSG00000108829ENST00000225972p.Q160Rc.479A>GSubstitution - Missense
XM_291321.3p.V61Lc.181G>CSubstitution - Missense
STX1BENSG00000099365ENST00000215095p.S58Sc.174C>TSubstitution - coding silent
ALPK1ENSG00000073331ENST00000458497p.S622Fc.1865C>TSubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.E39Gc.116A>GSubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.G409Vc.1226G>TSubstitution - Missense
ENST00000381954p.I405Mc.1215C>GSubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.Q151Qc.453A>GSubstitution - coding silent
TBR1ENSG00000136535ENST00000389554p.F68Sc.203T>CSubstitution - Missense
C7orf43ENSG00000146826ENST00000316937p.?c.637+2T>AUnknown
ENPP1ENSG00000197594ENST00000360971p.I515Vc.1543A>GSubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.D657Yc.1969G>TSubstitution - Missense
MED30ENSG00000164758ENST00000297347p.A129Pc.385G>CSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.R468Wc.1402C>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.N130Ic.389A>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000454762p.?c.337+8C>TUnknown
POTEFENSG00000196604ENST00000361163p.N79Nc.237C>TSubstitution - coding silent
BRD4ENSG00000141867ENST00000360016p.A526Ac.1578A>GSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.Q172Kc.514C>ASubstitution - Missense
GYLTL1BENSG00000165905ENST00000389968p.H79Hc.237T>CSubstitution - coding silent
URM1ENSG00000167118ENST00000452446p.G98Gc.294A>GSubstitution - coding silent
SLC28A1ENSG00000156222ENST00000537624p.I85Vc.253A>GSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.F182Fc.546C>TSubstitution - coding silent
CPEB1ENSG00000214575ENST00000568128p.I54Tc.161T>CSubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.P707Pc.2121C>GSubstitution - coding silent
PRDM4ENSG00000110851ENST00000228437p.?c.12-1G>TUnknown
MAGI3ENSG00000081026ENST00000369615p.D819Ec.2457C>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.C325Cc.975C>TSubstitution - coding silent
PBLDENSG00000108187ENST00000309049p.I7Tc.20T>CSubstitution - Missense
DNM3ENSG00000197959ENST00000358155p.I204Ic.612C>TSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000543371p.P497Qc.1490C>ASubstitution - Missense
NM_002779.2p.A763Vc.2288C>TSubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.F722Fc.2166C>TSubstitution - coding silent
MTA2ENSG00000149480ENST00000278823p.?c.1255-7C>TUnknown
LPHN2ENSG00000117114ENST00000359929p.Y941Cc.2822A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.Y954Cc.2861A>GSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.R245Lc.734G>TSubstitution - Missense
C9ENSG00000113600ENST00000263408p.P140Tc.418C>ASubstitution - Missense
FAM181AENSG00000140067ENST00000267594p.N74Kc.222C>GSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.?c.5783-8C>AUnknown
CCPG1ENSG00000260916ENST00000310958p.N416Nc.1248T>CSubstitution - coding silent
KNTC1ENSG00000184445ENST00000333479p.?c.5176-6T>GUnknown
MINAENSG00000170854ENST00000360258p.?c.552+3A>CUnknown
ENST00000217256p.R55Qc.164G>ASubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.K1652Nc.4956G>CSubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.P183Pc.549A>GSubstitution - coding silent
HMGN1ENSG00000205581ENST00000361263p.I88Ic.264C>TSubstitution - coding silent
POTEJENSG00000222038ENST00000409602p.L924Pc.2771T>CSubstitution - Missense
ENST00000356731_v68p.Y356Cc.1067A>GSubstitution - Missense
CASKIN2ENSG00000177303ENST00000321617p.P357Sc.1069C>TSubstitution - Missense
ERGIC1ENSG00000113719ENST00000393784p.G223Gc.669C>GSubstitution - coding silent
ZNF227ENSG00000131115ENST00000313040p.H398Yc.1192C>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.E662Kc.1984G>ASubstitution - Missense
SCO1ENSG00000133028ENST00000255390p.T261Tc.783A>GSubstitution - coding silent
SCFD2ENSG00000184178ENST00000401642p.?c.1708-3C>TUnknown
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.G722*c.2164G>TSubstitution - Nonsense
FRG1ENSG00000109536ENST00000226798p.R158Sc.474A>TSubstitution - Missense
C9orf84ENSG00000165181ENST00000374287p.F114Lc.340T>CSubstitution - Missense
ZUFSPENSG00000153975ENST00000368576p.K77_N79>FHc.229_235AAAGACA>TTCCComplex - deletion inframe
ENST00000274361_v65p.N345Nc.1035T>CSubstitution - coding silent
CXCR3ENSG00000186810ENST00000373693p.P44Pc.132A>GSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.L1492Lc.4476G>ASubstitution - coding silent
ABCF2ENSG00000033050ENST00000222388p.S3Fc.8C>TSubstitution - Missense
ENST00000307015p.S102*c.305C>ASubstitution - Nonsense
GABRA2ENSG00000151834ENST00000540012p.I262Fc.784A>TSubstitution - Missense
RHBDF1ENSG00000007384ENST00000454039p.W292Lc.875G>TSubstitution - Missense
SPRTNENSG00000010072ENST00000366644p.N19Nc.57C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.Q172Kc.514C>ASubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.R219Tc.656G>CSubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.Q556Kc.1666C>ASubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.L935Fc.2805G>TSubstitution - Missense
ATP2B1ENSG00000070961ENST00000359142p.V862Vc.2586T>GSubstitution - coding silent
MYCNENSG00000134323ENST00000281043p.V282Vc.846G>ASubstitution - coding silent
DLG2ENSG00000150672ENST00000398309p.E91*c.271G>TSubstitution - Nonsense
CACNA1EENSG00000198216ENST00000367570p.L233Mc.697C>ASubstitution - Missense
OTOGENSG00000188162ENST00000399397p.?c.3226-2A>GUnknown
SELEENSG00000007908ENST00000333360p.F518Fc.1554C>TSubstitution - coding silent
PNLIPRP3ENSG00000203837ENST00000369230p.N125Yc.373A>TSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.?c.3576-8T>AUnknown
SALL4ENSG00000101115ENST00000217086p.V524Mc.1570G>ASubstitution - Missense
SERPINA7ENSG00000123561ENST00000327674p.T379Tc.1137T>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.R8882Qc.26645G>ASubstitution - Missense
ENST00000356127p.R6312Hc.18935G>ASubstitution - Missense
USP10ENSG00000103194ENST00000219473p.A393Ac.1179C>TSubstitution - coding silent
DIS3LENSG00000166938ENST00000319194p.T343Ac.1027A>GSubstitution - Missense
TPM1ENSG00000140416ENST00000267996p.A183Ac.549T>CSubstitution - coding silent
CATSPERBENSG00000133962ENST00000256343p.?c.1288-1G>TUnknown
CACNA1SENSG00000081248ENST00000362061p.?c.1619+10G>AUnknown
C3orf58ENSG00000181744ENST00000315691p.E340*c.1018G>TSubstitution - Nonsense
XM_379699.1p.R144Ic.431G>TSubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.P483Pc.1449C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.?c.19609+4C>TUnknown
MICAL3ENSG00000243156ENST00000441493p.S1302Nc.3905G>ASubstitution - Missense
ENST00000278882_v61p.K152Rc.455A>GSubstitution - Missense
DCCENSG00000187323ENST00000442544p.L180Lc.540G>ASubstitution - coding silent
UMODL1ENSG00000177398ENST00000400424p.Q994Kc.2980C>ASubstitution - Missense
DENND6BENSG00000205593ENST00000413817p.A387Ac.1161C>TSubstitution - coding silent
SLC6A20ENSG00000163817ENST00000358525p.A171Ec.512C>ASubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.Q1467Qc.4401G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.G3225Gc.9675A>TSubstitution - coding silent
UBE3BENSG00000151148ENST00000280774p.E91*c.271G>TSubstitution - Nonsense
OR4C11ENSG00000172188ENST00000302231p.E94*c.280G>TSubstitution - Nonsense
NM_002467.2p.L105Lc.315G>ASubstitution - coding silent
EPPINENSG00000101448ENST00000336443p.?c.343+5G>CUnknown
KMT2CENSG00000055609ENST00000262189p.T2671Tc.8013G>ASubstitution - coding silent
LNX1ENSG00000072201ENST00000306888p.L491Fc.1471C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.I484Vc.1450A>GSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.C487Sc.1459T>ASubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.E961*c.2881G>TSubstitution - Nonsense
UGT2B15ENSG00000196620ENST00000338206p.E441Dc.1323G>TSubstitution - Missense
SHBENSG00000107338ENST00000377700p.?c.718-10C>TUnknown
SYNE1ENSG00000131018ENST00000448038p.L1275Vc.3823C>GSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.D731Nc.2191G>ASubstitution - Missense
KLHL5ENSG00000109790ENST00000359687p.M687Ic.2061G>CSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.Y941Cc.2822A>GSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.T840Nc.2519C>ASubstitution - Missense
KCNV1ENSG00000164794ENST00000524391p.G213Ac.638G>CSubstitution - Missense
DSTENSG00000151914ENST00000370765p.C508Rc.1522T>CSubstitution - Missense
CLUL1ENSG00000079101ENST00000338387p.K50Tc.149A>CSubstitution - Missense
CHD1ENSG00000153922ENST00000284049p.N444Nc.1332C>TSubstitution - coding silent
EXPH5ENSG00000110723ENST00000265843p.Q223Kc.667C>ASubstitution - Missense
MYCENSG00000136997ENST00000377970p.S264Rc.790A>CSubstitution - Missense
FGFR3ENSG00000068078ENST00000340107p.?c.616-3C>TUnknown
HYDINENSG00000157423ENST00000321489p.Y289Cc.866A>GSubstitution - Missense
ZSWIM4ENSG00000132003ENST00000254323p.F596Fc.1788C>TSubstitution - coding silent
OTOGLENSG00000165899ENST00000458043p.L142Mc.424C>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
SHISA2ENSG00000180730ENST00000319420p.R196Qc.587G>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.D2129Dc.6387C>TSubstitution - coding silent
PSDENSG00000059915ENST00000020673p.A978Vc.2933C>TSubstitution - Missense
FANCIENSG00000140525ENST00000300027p.P938Sc.2812C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.T2587Mc.7760C>TSubstitution - Missense
MYBL1ENSG00000185697ENST00000522677p.T551Ac.1651A>GSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.L129Lc.387C>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000408042p.F892Lc.2676C>ASubstitution - Missense
CDC7ENSG00000097046ENST00000234626p.?c.115+5G>CUnknown
LRRC8DENSG00000171492ENST00000337338p.P611Pc.1833A>CSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000368315p.G17Gc.51G>TSubstitution - coding silent
RASGEF1BENSG00000138670ENST00000264400p.K368Qc.1102A>CSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.H672Rc.2015A>GSubstitution - Missense
NARSENSG00000134440ENST00000256854p.T35Tc.105A>CSubstitution - coding silent
HUNKENSG00000142149ENST00000270112p.A272Dc.815C>ASubstitution - Missense
HGFACENSG00000109758ENST00000382774p.L21Vc.61C>GSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.P31Qc.92C>ASubstitution - Missense
CXCR3ENSG00000186810ENST00000373691p.P91Pc.273A>GSubstitution - coding silent
IFNA7ENSG00000214042ENST00000239347p.M155Ic.465G>ASubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.P835Lc.2504C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.P1544Tc.4630C>ASubstitution - Missense
DGKDENSG00000077044ENST00000264057p.E280Ec.840A>GSubstitution - coding silent
MPHOSPH10ENSG00000124383ENST00000244230p.Y452Cc.1355A>GSubstitution - Missense
TRIM31ENSG00000204616ENST00000376734p.T171Tc.513G>ASubstitution - coding silent
NM_002467.2p.V5Ac.14T>CSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.T270Mc.809C>TSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.T1258Mc.3773C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000342247p.E340Ec.1020G>ASubstitution - coding silent
KLHL5ENSG00000109790ENST00000381930p.M687Ic.2061G>CSubstitution - Missense
UPF1ENSG00000005007ENST00000599848p.K1023*c.3067A>TSubstitution - Nonsense
TRIM6ENSG00000121236ENST00000380097p.L124Rc.371T>GSubstitution - Missense
OR51T1ENSG00000176900ENST00000380378p.A97Dc.290C>ASubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.S1202Yc.3605C>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.S319Sc.957G>ASubstitution - coding silent
ENST00000358313p.A218Ac.654A>GSubstitution - coding silent
ZFP1ENSG00000184517ENST00000393430p.K359Rc.1076A>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.S492Gc.1474A>GSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.A985Ec.2954C>ASubstitution - Missense
ENST00000453814p.A105Sc.313G>TSubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.E40*c.118G>TSubstitution - Nonsense
NAV1ENSG00000134369ENST00000367296p.D1141Nc.3421G>ASubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.W575Sc.1724G>CSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.A737Ac.2211C>TSubstitution - coding silent
DSC3ENSG00000134762ENST00000360428p.K47Qc.139A>CSubstitution - Missense
PTK2BENSG00000120899ENST00000544172p.I501Vc.1501A>GSubstitution - Missense
ENST00000377689p.R130Gc.388A>GSubstitution - Missense
FAM217BENSG00000196227ENST00000358293p.R58Cc.172C>TSubstitution - Missense
POTEEENSG00000188219ENST00000358087p.R136Hc.407G>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.A1121Pc.3361G>CSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.A2021Ac.6063G>ASubstitution - coding silent
IL5RAENSG00000091181ENST00000446632p.P376Ac.1126C>GSubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.I572Vc.1714A>GSubstitution - Missense
MUC20ENSG00000176945ENST00000447234p.I594Mc.1782C>GSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.G91Gc.273T>GSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.R204Qc.611G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000399338p.P927Qc.2780C>ASubstitution - Missense
TMF1ENSG00000144747ENST00000398559p.V192Lc.574G>TSubstitution - Missense
RNF133ENSG00000188050ENST00000340112p.V177Gc.530T>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.T421Mc.1262C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.D731Nc.2191G>ASubstitution - Missense
CD320ENSG00000167775ENST00000301458p.S225Nc.674G>ASubstitution - Missense
CRISPLD2ENSG00000103196ENST00000262424p.A92Vc.275C>TSubstitution - Missense
FAM110BENSG00000169122ENST00000361488p.Q7Ec.19C>GSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.S1099Tc.3295T>ASubstitution - Missense
ADD2ENSG00000075340ENST00000264436p.S718Ic.2153G>TSubstitution - Missense
SSX3ENSG00000165584ENST00000298396p.I176Vc.526A>GSubstitution - Missense
ZNF534ENSG00000198633ENST00000332323p.S84fs*2c.250_251insAInsertion - Frameshift
ARVCFENSG00000099889ENST00000263207p.D562Nc.1684G>ASubstitution - Missense
USP18ENSG00000184979ENST00000215794p.L196Ic.586C>ASubstitution - Missense
BAIAP2L1ENSG00000006453ENST00000005260p.T166Tc.498C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374283p.F178Lc.532T>CSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.K1012*c.3034A>TSubstitution - Nonsense
SEMA3DENSG00000153993ENST00000284136p.Y464Yc.1392C>TSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.K1427Nc.4281G>TSubstitution - Missense
TPT1ENSG00000133112ENST00000309246p.A51Ac.153T>CSubstitution - coding silent
DGKGENSG00000058866ENST00000265022p.F287Sc.860T>CSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.Q1161Kc.3481C>ASubstitution - Missense
HYDINENSG00000157423ENST00000288168p.Y364Hc.1090T>CSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.Y316Cc.947A>GSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.D2663Ec.7989C>ASubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.S427Sc.1281A>CSubstitution - coding silent
NM_002711.2p.I752Fc.2254A>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.D45fs*7c.132delGDeletion - Frameshift
BMS1ENSG00000165733ENST00000374518p.?c.902-4C>TUnknown
MIA3ENSG00000154305ENST00000344922p.S1033Sc.3099C>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.V1401Ic.4201G>ASubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.T1115Kc.3344C>ASubstitution - Missense
FAM183AENSG00000186973ENST00000335282p.T125Tc.375G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
SFRP1ENSG00000104332ENST00000220772p.?c.622+10C>TUnknown
TTC22ENSG00000006555ENST00000371274p.?c.624-8G>AUnknown
POGZENSG00000143442ENST00000271715p.V835Lc.2503G>CSubstitution - Missense
ENST00000312452p.Q429Qc.1287G>ASubstitution - coding silent
NCR3LG1ENSG00000188211ENST00000338965p.P433Ac.1297C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.R1051Rc.3153C>TSubstitution - coding silent
KERAENSG00000139330ENST00000266719p.S118Ic.353G>TSubstitution - Missense
SIAEENSG00000110013ENST00000263593p.G187Vc.560G>TSubstitution - Missense
CD33ENSG00000105383ENST00000262262p.A289Vc.866C>TSubstitution - Missense
NM_020871.2p.I489Fc.1465A>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.S492Gc.1474A>GSubstitution - Missense
PRSS23ENSG00000150687ENST00000280258p.A248Dc.743C>ASubstitution - Missense
RNF186ENSG00000178828ENST00000375121p.S10Sc.30C>TSubstitution - coding silent
SLC36A4ENSG00000180773ENST00000326402p.S236Lc.707C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.?c.742-9C>AUnknown
BBXENSG00000114439ENST00000415149p.T152Ic.455C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.N653Nc.1959T>CSubstitution - coding silent
ZNF705GENSG00000215372ENST00000400156p.P143Lc.428C>TSubstitution - Missense
SLC7A13ENSG00000164893ENST00000419776p.S301Sc.903A>CSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.V125Lc.373G>TSubstitution - Missense
ENST00000319509_v65p.D68Dc.204T>CSubstitution - coding silent
NYAP2ENSG00000144460ENST00000272907p.S152Rc.456C>ASubstitution - Missense
SP110ENSG00000135899ENST00000258381p.Q390fs*6c.1168delCDeletion - Frameshift
ARSFENSG00000062096ENST00000381127p.I105Vc.313A>GSubstitution - Missense
CAMK2AENSG00000070808ENST00000398376p.V486Ic.1456G>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.A1025Sc.3073G>TSubstitution - Missense
NOP14ENSG00000087269ENST00000314262p.G410Dc.1229G>ASubstitution - Missense
PHAXENSG00000164902ENST00000297540p.G100Dc.299G>ASubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.G281Rc.841G>ASubstitution - Missense
AKNAENSG00000106948ENST00000307564p.R1245Qc.3734G>ASubstitution - Missense
RFC4ENSG00000163918ENST00000392481p.N318Nc.954C>TSubstitution - coding silent
NM_003829.1p.A1787Ac.5361G>TSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000456883p.S319Sc.957G>ASubstitution - coding silent
KRT78ENSG00000170423ENST00000304620p.G460Gc.1380G>TSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.R2481Kc.7442G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.N393Kc.1179C>ASubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.D1212Yc.3634G>TSubstitution - Missense
NCAPD3ENSG00000151503ENST00000534548p.F1035Fc.3105C>TSubstitution - coding silent
ANAPC5ENSG00000089053ENST00000261819p.A537Gc.1610C>GSubstitution - Missense
ERI3ENSG00000117419ENST00000372257p.G327Gc.981C>ASubstitution - coding silent
XCL2ENSG00000143185ENST00000367819p.D79Dc.237C>TSubstitution - coding silent
KCNK4ENSG00000182450ENST00000422670p.T211Ic.632C>TSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.P123Qc.368C>ASubstitution - Missense
NPSENSG00000214285ENST00000398023p.V12Ac.35T>CSubstitution - Missense
FANK1ENSG00000203780ENST00000368693p.G200Gc.600C>TSubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.P609Sc.1825C>TSubstitution - Missense
ENST00000452401p.V487Vc.1461G>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V14381Dc.43142T>ASubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.S509Sc.1527T>CSubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.S502Sc.1506G>ASubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.L35Lc.105C>GSubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.R1207Qc.3620G>ASubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.?c.4962+7G>AUnknown
MYH13ENSG00000006788ENST00000252172p.Q1602Qc.4806G>ASubstitution - coding silent
PTK2BENSG00000120899ENST00000397497p.I247Vc.739A>GSubstitution - Missense
TMEM229AENSG00000234224ENST00000455783p.T276Tc.828G>TSubstitution - coding silent
SLC6A20ENSG00000163817ENST00000353278p.A171Ec.512C>ASubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.A712Ec.2135C>ASubstitution - Missense
PLA2G4CENSG00000105499ENST00000413144p.H198Nc.592C>ASubstitution - Missense
SPDYE2BENSG00000173678ENST00000436228p.D222Ec.666C>GSubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.D68Dc.204T>CSubstitution - coding silent
INHBBENSG00000163083ENST00000295228p.T352Tc.1056G>ASubstitution - coding silent
DTX2ENSG00000091073ENST00000324432p.P188Pc.564G>ASubstitution - coding silent
CRIPAKENSG00000179979ENST00000324803p.T88Ic.263C>TSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.A1472Ac.4416G>TSubstitution - coding silent
SLC32A1ENSG00000101438ENST00000217420p.G376Gc.1128C>ASubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.L172Ic.514C>ASubstitution - Missense
ANGPT1ENSG00000154188ENST00000297450p.E217*c.649G>TSubstitution - Nonsense
USP13ENSG00000058056ENST00000263966p.Y191Cc.572A>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.S258Pc.772T>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.F63Lc.189C>ASubstitution - Missense
MYCENSG00000136997ENST00000377970p.V20Ac.59T>CSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.F846Fc.2538C>TSubstitution - coding silent
ZNF618ENSG00000157657ENST00000288466p.F753Fc.2259C>TSubstitution - coding silent
KCNN2ENSG00000080709ENST00000264773p.R453Qc.1358G>ASubstitution - Missense
MPDZENSG00000107186ENST00000319217p.A1787Ac.5361G>TSubstitution - coding silent
ENST00000256343_v70p.?c.1288-1G>TUnknown
KCNT2ENSG00000162687ENST00000367431p.L842Lc.2526G>TSubstitution - coding silent
PHGDHENSG00000092621ENST00000369407p.A494Vc.1481C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.L642Lc.1924T>CSubstitution - coding silent
MPDZENSG00000107186ENST00000541718p.A1787Ac.5361G>TSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000369397p.P491Qc.1472C>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S1836Sc.5508T>ASubstitution - coding silent
GOLGA6L19ENSG00000259243ENST00000557886p.N167Sc.500A>GSubstitution - Missense
PRR5LENSG00000135362ENST00000378867p.G311Ac.932G>CSubstitution - Missense
RBP4ENSG00000138207ENST00000371467p.A46Sc.136G>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.S1390Yc.4169C>ASubstitution - Missense
AGLENSG00000162688ENST00000370163p.E436Dc.1308G>CSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.Q794Rc.2381A>GSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.D55Vc.164A>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.E196*c.586G>TSubstitution - Nonsense
TOR1AIP1ENSG00000143337ENST00000435319p.A430Ac.1290T>CSubstitution - coding silent
ZSCAN2ENSG00000176371ENST00000448803p.K610Kc.1830A>GSubstitution - coding silent
DPP8ENSG00000074603ENST00000300141p.*883Qc.2647T>CNonstop extension
ENST00000368724p.A94Sc.280G>TSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.L2536Lc.7608G>TSubstitution - coding silent
NM_007332.1p.N130Ic.389A>TSubstitution - Missense
HIST1H1CENSG00000187837ENST00000343677p.Q95*c.283C>TSubstitution - Nonsense
BCAS3ENSG00000141376ENST00000390652p.S500Ic.1499G>TSubstitution - Missense
BPIFA3ENSG00000131059ENST00000375454p.Q89Hc.267G>TSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.T88Tc.264A>GSubstitution - coding silent
CTCFENSG00000102974ENST00000264010p.T678Ic.2033C>TSubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.T487Tc.1461G>ASubstitution - coding silent
AMZ2ENSG00000196704ENST00000392720p.E39Gc.116A>GSubstitution - Missense
CXXC4ENSG00000168772ENST00000394767p.P203Hc.608C>ASubstitution - Missense
SLC9B1ENSG00000164037ENST00000296422p.M80Ic.240G>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.S2170Sc.6510G>ASubstitution - coding silent
NRCAMENSG00000091129ENST00000379022p.S278Tc.833G>CSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.L1296Fc.3888G>TSubstitution - Missense
NR1I2ENSG00000144852ENST00000337940p.P36Tc.106C>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.R104Qc.311G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.L1804Fc.5412G>TSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.D1943Ac.5828A>CSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.D1943Yc.5827G>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.L154Lc.460T>CSubstitution - coding silent
ERCC6ENSG00000225830ENST00000355832p.N115Ic.344A>TSubstitution - Missense
OR51T1ENSG00000176900ENST00000322049p.A70Dc.209C>ASubstitution - Missense
OR5C1ENSG00000148215ENST00000373680p.A121Sc.361G>TSubstitution - Missense
LHX2ENSG00000106689ENST00000373615p.V333Mc.997G>ASubstitution - Missense
ZNF880ENSG00000221923ENST00000422689p.H318Nc.952C>ASubstitution - Missense
ZIM2ENSG00000269699ENST00000221722p.R68Wc.202C>TSubstitution - Missense
BBS9ENSG00000122507ENST00000354265p.S188Pc.562T>CSubstitution - Missense
POGZENSG00000143442ENST00000491586p.V791Lc.2371G>CSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.K1005Kc.3015G>ASubstitution - coding silent
PADI1ENSG00000142623ENST00000375471p.V18Vc.54G>ASubstitution - coding silent
SORCS1ENSG00000108018ENST00000263054p.L1114Lc.3342G>TSubstitution - coding silent
RGS7ENSG00000182901ENST00000366565p.S474Tc.1420T>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T3865Tc.11595A>CSubstitution - coding silent
PRR25ENSG00000167945ENST00000301698p.P9Lc.26C>TSubstitution - Missense
CCDC91ENSG00000123106ENST00000306172p.M3Vc.7A>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.G1813Dc.5438G>ASubstitution - Missense
GABRA2ENSG00000151834ENST00000356504p.I317Fc.949A>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L930Mc.2788C>ASubstitution - Missense
MYL12AENSG00000101608ENST00000579226p.T127Tc.381A>CSubstitution - coding silent
TRMT10BENSG00000165275ENST00000297994p.N294Kc.882C>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.V125Lc.373G>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.T421Mc.1262C>TSubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.I379Fc.1135A>TSubstitution - Missense
SP100ENSG00000067066ENST00000341950p.?c.1347+7G>AUnknown
ZNF804BENSG00000182348ENST00000333190p.S689Sc.2067C>TSubstitution - coding silent
STEAP2ENSG00000157214ENST00000394621p.H79Rc.236A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.K7288Nc.21864G>CSubstitution - Missense
NM_145686p.V960Ec.2879T>ASubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.N859Nc.2577T>CSubstitution - coding silent
ZSCAN5CENSG00000204532ENST00000534327p.P158Sc.472C>TSubstitution - Missense
SGMS2ENSG00000164023ENST00000394684p.G164Gc.492A>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S1546Sc.4638C>TSubstitution - coding silent
GIMAP1ENSG00000213203ENST00000307194p.N171Nc.513C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.G408Vc.1223G>TSubstitution - Missense
ERAP2ENSG00000164308ENST00000510309p.S349fs?c.1041_1044delTCTTDeletion - Frameshift
ANKRD31ENSG00000145700ENST00000274361p.P346Tc.1036C>ASubstitution - Missense
ZNF28ENSG00000198538ENST00000339844p.?c.156-1G>AUnknown
SYNE1ENSG00000131018ENST00000341594p.L1334Vc.4000C>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.G3368Gc.10104A>TSubstitution - coding silent
ADD1ENSG00000087274ENST00000398125p.S468Lc.1403C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.A985Ec.2954C>ASubstitution - Missense
GSG1ENSG00000111305ENST00000432710p.Q298Hc.894G>CSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.E673Kc.2017G>ASubstitution - Missense
UBE3BENSG00000151148ENST00000540230p.E91*c.271G>TSubstitution - Nonsense
ENST00000341231p.T87Tc.261C>TSubstitution - coding silent
ENST00000337072p.L124Rc.371T>GSubstitution - Missense
OR5D16ENSG00000205029ENST00000378396p.A118Sc.352G>TSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.A1543Sc.4627G>TSubstitution - Missense
TOR3AENSG00000186283ENST00000447595p.P96Tc.286C>ASubstitution - Missense
ENST00000367790_v70p.A156Tc.466G>ASubstitution - Missense
LCE1FENSG00000240386ENST00000334371p.C105Gc.313T>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.E1169Ec.3507A>GSubstitution - coding silent
UGGT2ENSG00000102595ENST00000397618p.?c.758-4G>AUnknown
AGLENSG00000162688ENST00000361522p.E419Dc.1257G>CSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.*899Qc.2695T>CNonstop extension
TPM1ENSG00000140416ENST00000403994p.A183Ac.549T>CSubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.A704Sc.2110G>TSubstitution - Missense
MROH7ENSG00000184313ENST00000339553p.S502Sc.1506G>ASubstitution - coding silent
ERI3ENSG00000117419ENST00000372259p.G212Gc.636C>ASubstitution - coding silent
PRDM16ENSG00000142611ENST00000270722p.E909Dc.2727G>TSubstitution - Missense
SRSF10ENSG00000188529ENST00000344989p.R62Rc.186T>CSubstitution - coding silent
SRSF10ENSG00000188529ENST00000374452p.R62Rc.186T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.R1049Rc.3147C>TSubstitution - coding silent
PLA2G4CENSG00000105499ENST00000599111p.H208Nc.622C>ASubstitution - Missense
CCDC102BENSG00000150636ENST00000584156p.F267Lc.801C>GSubstitution - Missense
CCDC102BENSG00000150636ENST00000358653p.F267Lc.801C>GSubstitution - Missense
DCCENSG00000187323ENST00000412726p.L28Lc.84G>ASubstitution - coding silent
DLGAP1ENSG00000170579ENST00000581527p.R372Wc.1114C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581699p.R78Wc.232C>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.A253Ac.759C>TSubstitution - coding silent
BCAS3ENSG00000141376ENST00000589222p.S500Ic.1499G>TSubstitution - Missense
NBR1ENSG00000188554ENST00000389312p.V118Lc.352G>CSubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.A1394Tc.4180G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000541859p.A1171Tc.3511G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.A1161Tc.3481G>ASubstitution - Missense
MAP4K4ENSG00000071054ENST00000350878p.V919Ec.2756T>ASubstitution - Missense
MAP4K4ENSG00000071054ENST00000350198p.V798Ec.2393T>ASubstitution - Missense
BCAS1ENSG00000064787ENST00000371440p.A364Sc.1090G>TSubstitution - Missense
FRG1BENSG00000149531ENST00000439954p.K116*c.346A>TSubstitution - Nonsense
GRM7ENSG00000196277ENST00000357716p.P142Pc.426G>TSubstitution - coding silent
GRM7ENSG00000196277ENST00000403881p.P142Pc.426G>TSubstitution - coding silent
CCDC142ENSG00000135637ENST00000393965p.V556Lc.1666G>CSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.N507Nc.1521C>TSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.S1976Sc.5928C>TSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.S1955Sc.5865G>ASubstitution - coding silent
PPARGC1BENSG00000155846ENST00000394320p.P388Lc.1163C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.L184Mc.550C>ASubstitution - Missense
VPS13BENSG00000132549ENST00000441350p.D45fs*7c.132delGDeletion - Frameshift
NOP14ENSG00000087269ENST00000398071p.G410Dc.1229G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.P124Pc.372G>ASubstitution - coding silent
UBN2ENSG00000157741ENST00000473989p.L912Lc.2736G>CSubstitution - coding silent
TJAP1ENSG00000137221ENST00000372445p.?c.495+8C>TUnknown
PRICKLE4ENSG00000124593ENST00000359201p.Q96Kc.286C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.K7288Nc.21864G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.K6971Nc.20913G>CSubstitution - Missense
SIMC1ENSG00000170085ENST00000332772p.D228Gc.683A>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.C1121Fc.3362G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000303219p.A640Sc.1918G>TSubstitution - Missense
SFRP1ENSG00000104332ENST00000220772p.?c.622+10C>TUnknown
SLC6A15ENSG00000072041ENST00000266682p.?c.1302+10C>TUnknown
ENST00000358313p.A218Sc.652G>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.R1021Qc.3062G>ASubstitution - Missense
GRIA4ENSG00000152578ENST00000282499p.G675Rc.2023G>ASubstitution - Missense
ENST00000376337p.Q192Hc.576G>TSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.R984Gc.2950C>GSubstitution - Missense
ENST00000316490p.Y347Hc.1039T>CSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.Y347Hc.1039T>CSubstitution - Missense
ENST00000316490_v65p.C1715Sc.5143T>ASubstitution - Missense
ENST00000316490p.C1667Sc.4999T>ASubstitution - Missense
ENST00000316490_v65p.I2929Nc.8786T>ASubstitution - Missense
ENST00000316490p.I2881Nc.8642T>ASubstitution - Missense
ENST00000309900p.I487Nc.1460T>ASubstitution - Missense
AARSENSG00000090861ENST00000261772p.D207Ec.621C>ASubstitution - Missense
EPPINENSG00000101448ENST00000555685p.?c.391+5G>CUnknown
EPPINENSG00000101448ENST00000336443p.?c.343+5G>CUnknown
CHD6ENSG00000124177ENST00000373233p.R1184Kc.3551G>ASubstitution - Missense
ZNF229ENSG00000167383ENST00000291187p.S21fs*4c.61_62insTInsertion - Frameshift
ZNF223ENSG00000178386ENST00000434772p.P90Tc.268C>ASubstitution - Missense
CEACAM6ENSG00000086548ENST00000199764p.G92Gc.276G>ASubstitution - coding silent
BRD4ENSG00000141867ENST00000263377p.A526Ac.1578A>GSubstitution - coding silent
ILVBLENSG00000105135ENST00000263383p.?c.1614+7G>CUnknown
DDX1ENSG00000079785ENST00000381341p.E664Dc.1992A>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.Q813Qc.2439G>ASubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.Q813Qc.2439G>ASubstitution - coding silent
TWISTNBENSG00000105849ENST00000222567p.L338Lc.1014T>GSubstitution - coding silent
AHRENSG00000106546ENST00000242057p.Q624Lc.1871A>TSubstitution - Missense
AHRENSG00000106546ENST00000242057p.D677Dc.2031C>TSubstitution - coding silent
VIPR2ENSG00000106018ENST00000262178p.V254Ic.760G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.P117Pc.351C>TSubstitution - coding silent
NM_002467.2p.S249Rc.745A>CSubstitution - Missense
MYCENSG00000136997ENST00000377970p.L120Lc.360G>ASubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.P2327Pc.6981C>ASubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.?c.3711+4A>CUnknown
SCN7AENSG00000136546ENST00000409855p.?c.3711+4A>CUnknown
TBC1D13ENSG00000107021ENST00000372648p.H186Yc.556C>TSubstitution - Missense
ZBTB34ENSG00000177125ENST00000373452p.K128Kc.384A>GSubstitution - coding silent
RABGAP1ENSG00000011454ENST00000373647p.S444Nc.1331G>ASubstitution - Missense
NM_012197.2p.S372Nc.1115G>ASubstitution - Missense
RABGAP1ENSG00000011454ENST00000373647p.S444Rc.1332C>ASubstitution - Missense
OR5C1ENSG00000148215ENST00000373680p.H60Rc.179A>GSubstitution - Missense
OR1K1ENSG00000165204ENST00000277309p.A247Dc.740C>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.S419Fc.1256C>TSubstitution - Missense
ENST00000345702p.D767Gc.2300A>GSubstitution - Missense
TRAPPC11ENSG00000168538ENST00000334690p.N537Kc.1611C>GSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.?c.616-3C>TUnknown
HPGDENSG00000164120ENST00000296522p.P55Lc.164C>TSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.E1043fs*1c.3123_3124insTInsertion - Frameshift
MB21D2ENSG00000180611ENST00000392452p.R151Rc.451C>ASubstitution - coding silent
PSMD2ENSG00000175166ENST00000310118p.A410Vc.1229C>TSubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.P68Ac.202C>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.T53Ic.158C>TSubstitution - Missense
CRISP2ENSG00000124490ENST00000339139p.S129fs*32c.383_384insAInsertion - Frameshift
MEP1AENSG00000112818ENST00000230588p.W3Lc.8G>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000372444p.?c.465+8C>TUnknown
MLNENSG00000096395ENST00000430124p.K48Kc.144G>ASubstitution - coding silent
PHF1ENSG00000112511ENST00000374516p.G291Rc.871G>ASubstitution - Missense
ATF6BENSG00000213676ENST00000375203p.R533Rc.1599G>ASubstitution - coding silent
DEPDC1BENSG00000035499ENST00000265036p.G447Dc.1340G>ASubstitution - Missense
RBP4ENSG00000138207ENST00000371469p.A44Sc.130G>TSubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.A218Sc.652G>TSubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.A218Ac.654A>GSubstitution - coding silent
FAM35AENSG00000122376ENST00000298786p.V228Lc.682G>CSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.D520Gc.1559A>GSubstitution - Missense
MALRD1ENSG00000204740ENST00000455457p.K295Qc.883A>CSubstitution - Missense
STK32CENSG00000165752ENST00000368620p.A148Ac.444C>TSubstitution - coding silent
ENST00000368854p.Y23Yc.69C>TSubstitution - coding silent
FANK1ENSG00000203780ENST00000368691p.G178Gc.534C>TSubstitution - coding silent
DCTN2ENSG00000175203ENST00000543672p.D175Yc.523G>TSubstitution - Missense
ENST00000357132p.?c.195-10C>TUnknown
C17orf78ENSG00000167230ENST00000300618p.?c.508+7T>CUnknown
CCL4L1ENSG00000205020ENST00000358756p.?c.93+8G>AUnknown
ENST00000449046_v65p.N589Nc.1767T>CSubstitution - coding silent
SLFN12LENSG00000205045ENST00000449046p.N589Nc.1767T>CSubstitution - coding silent
SLFN12LENSG00000205045ENST00000361112p.N587Nc.1761T>CSubstitution - coding silent
TMEM98ENSG00000006042ENST00000394642p.M91Rc.272T>GSubstitution - Missense
RAB11FIP4ENSG00000131242ENST00000325874p.D561Dc.1683C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.G553Vc.1658G>TSubstitution - Missense
NT5EENSG00000135318ENST00000257770p.R401Cc.1201C>TSubstitution - Missense
ZNF461ENSG00000197808ENST00000396893p.F282Sc.845T>CSubstitution - Missense
ZNF461ENSG00000197808ENST00000396893p.F155Sc.464T>CSubstitution - Missense
ZNF211ENSG00000121417ENST00000407202p.C320Cc.960T>CSubstitution - coding silent
ZNF30ENSG00000168661ENST00000439785p.K71*c.211A>TSubstitution - Nonsense
MKS1ENSG00000011143ENST00000393119p.T306Ac.916A>GSubstitution - Missense
MKS1ENSG00000011143ENST00000337050p.T306Ac.916A>GSubstitution - Missense
MPP2ENSG00000108852ENST00000269095p.T534Kc.1601C>ASubstitution - Missense
NBR1ENSG00000188554ENST00000422280p.V118Lc.352G>CSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.A1056Gc.3167C>GSubstitution - Missense
PPARGC1BENSG00000155846ENST00000309241p.P388Lc.1163C>TSubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.D657Yc.1969G>TSubstitution - Missense
KCTD16ENSG00000183775ENST00000512467p.L209Fc.627G>TSubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.D702Yc.2104G>TSubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.D742Yc.2224G>TSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.M18fs*19c.51delGDeletion - Frameshift
PLD1ENSG00000075651ENST00000351298p.N5Nc.15C>TSubstitution - coding silent
OTOL1ENSG00000182447ENST00000327928p.T57Pc.169A>CSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.G683*c.2047G>TSubstitution - Nonsense
CYP2B6ENSG00000197408ENST00000324071p.D64Dc.192C>TSubstitution - coding silent
ENST00000301171p.?c.169-7C>AUnknown
PIAS4ENSG00000105229ENST00000262971p.A74Ac.222C>TSubstitution - coding silent
NMRK2ENSG00000077009ENST00000168977p.N163Nc.489C>TSubstitution - coding silent
SECISBP2ENSG00000187742ENST00000375807p.V593Dc.1778T>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.A1065Sc.3193G>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.S1670Yc.5009C>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.C1421Fc.4262G>TSubstitution - Missense
PAEPENSG00000122133ENST00000371766p.?c.97-10G>AUnknown
PPP1R26ENSG00000196422ENST00000356818p.T652Tc.1956C>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.K3209*c.9625A>TSubstitution - Nonsense
MAMLD1ENSG00000013619ENST00000432680p.A96Tc.286G>ASubstitution - Missense
NM_005491.1p.A48Tc.142G>ASubstitution - Missense
VGLL1ENSG00000102243ENST00000370634p.Y32*c.96C>ASubstitution - Nonsense
BBS9ENSG00000122507ENST00000242067p.S188Pc.562T>CSubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.S188Pc.562T>CSubstitution - Missense
NUDCD2ENSG00000170584ENST00000302764p.W18fs*54c.51delGDeletion - Frameshift
PCDHGA2ENSG00000081853ENST00000394576p.P614Pc.1842G>TSubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.A747Ac.2241C>TSubstitution - coding silent
NRCAMENSG00000091129ENST00000379028p.S278Tc.833G>CSubstitution - Missense
NRCAMENSG00000091129ENST00000351718p.S272Tc.815G>CSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.S1936Ic.5807G>TSubstitution - Missense
C6orf136ENSG00000204564ENST00000293604p.A317Dc.950C>ASubstitution - Missense
ZSCAN12ENSG00000158691ENST00000361028p.K82Ec.244A>GSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.D45fs*7c.132delGDeletion - Frameshift
GJC3ENSG00000176402ENST00000312891p.S229Yc.686C>ASubstitution - Missense
ZNF3ENSG00000166526ENST00000413658p.D129fs*>3c.386delADeletion - Frameshift
OR2AE1ENSG00000244623ENST00000316368p.S274fs*11c.820delTDeletion - Frameshift
VSTM2AENSG00000170419ENST00000402026p.P204Hc.611C>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.M2737Vc.8209A>GSubstitution - Missense
ABCF2ENSG00000033050ENST00000287844p.S3Fc.8C>TSubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.?c.683-3C>GUnknown
HYDINENSG00000157423ENST00000393550p.Y289Cc.866A>GSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.Y306Cc.917A>GSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.Y374Hc.1120T>CSubstitution - Missense
ENST00000316490_v65p.Y347Hc.1039T>CSubstitution - Missense
PACSIN2ENSG00000100266ENST00000402229p.?c.1029-10C>AUnknown
NM_053025p.D839Dc.2517T>CSubstitution - coding silent
GNB2ENSG00000172354ENST00000303210p.T243Tc.729C>TSubstitution - coding silent
KLC4ENSG00000137171ENST00000259708p.R510Qc.1529G>ASubstitution - Missense
RPL7L1ENSG00000146223ENST00000493763p.T230Kc.689C>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000394263p.Q96Kc.286C>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000335515p.Q96Kc.286C>ASubstitution - Missense
COL4A3BPENSG00000113163ENST00000380494p.N531Nc.1593C>TSubstitution - coding silent
COL4A3BPENSG00000113163ENST00000405807p.N403Nc.1209C>TSubstitution - coding silent
ZNF366ENSG00000178175ENST00000318442p.R598Wc.1792C>TSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.H201Nc.601C>ASubstitution - Missense
MARVELD2ENSG00000152939ENST00000325631p.?c.1503+9G>AUnknown
AUTS2ENSG00000158321ENST00000342771p.D1041Ec.3123C>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.Q964Rc.2891A>GSubstitution - Missense
RELNENSG00000189056ENST00000343529p.Q964Kc.2890C>ASubstitution - Missense
XM_379909.2p.L275Lc.825A>GSubstitution - coding silent
DNAJC2ENSG00000105821ENST00000249270p.L317Lc.951A>GSubstitution - coding silent
TFR2ENSG00000106327ENST00000223051p.?c.473+10G>AUnknown
ATP8B3ENSG00000130270ENST00000525591p.D425Dc.1275C>TSubstitution - coding silent
COLGALT1ENSG00000130309ENST00000252599p.Q504Qc.1512A>GSubstitution - coding silent
NHSL2ENSG00000204131ENST00000540800p.V430Lc.1288G>CSubstitution - Missense
IFNA1ENSG00000197919ENST00000276927p.E156Qc.466G>CSubstitution - Missense
IFNEENSG00000184995ENST00000448696p.M1Ic.3G>ASubstitution - Missense
FOCADENSG00000188352ENST00000380249p.Y511Cc.1532A>GSubstitution - Missense
ENST00000380437p.S675*c.2024C>ASubstitution - Nonsense
CACNA1BENSG00000148408ENST00000371372p.F1570Fc.4710T>CSubstitution - coding silent
POTEFENSG00000196604ENST00000357462p.N79Nc.237C>TSubstitution - coding silent
MAPK3ENSG00000102882ENST00000263025p.R104Qc.311G>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.R104Qc.311G>ASubstitution - Missense
ATP2A1ENSG00000196296ENST00000357084p.D738Nc.2212G>ASubstitution - Missense
ELSPBP1ENSG00000169393ENST00000339841p.T13Nc.38C>ASubstitution - Missense
CRXENSG00000105392ENST00000221996p.S212Rc.636C>ASubstitution - Missense
FBLN2ENSG00000163520ENST00000404922p.A131Ec.392C>ASubstitution - Missense
STAG1ENSG00000118007ENST00000383202p.T1072Tc.3216C>TSubstitution - coding silent
WDR5BENSG00000196981ENST00000330689p.V290Vc.870G>ASubstitution - coding silent
LRRC58ENSG00000163428ENST00000295628p.L127Lc.381C>TSubstitution - coding silent
MAATS1ENSG00000183833ENST00000273390p.T654Tc.1962C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.H746Qc.2238T>GSubstitution - Missense
CCDC74AENSG00000163040ENST00000467992p.P5Sc.13C>TSubstitution - Missense
ENST00000409602_v68p.L924Pc.2771T>CSubstitution - Missense
ZNF608ENSG00000168916ENST00000306315p.M1095Rc.3284T>GSubstitution - Missense
SLC34A2ENSG00000157765ENST00000382051p.S161Rc.483C>ASubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.K179*c.535A>TSubstitution - Nonsense
PDLIM3ENSG00000154553ENST00000284770p.S250Lc.749C>TSubstitution - Missense
PDLIM3ENSG00000154553ENST00000284771p.S202Lc.605C>TSubstitution - Missense
ASIC5ENSG00000256394ENST00000537611p.G247Dc.740G>ASubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.D1041Dc.3123C>TSubstitution - coding silent
CCDC102BENSG00000150636ENST00000360242p.F267Lc.801C>GSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.?c.1781+1G>AUnknown
PHF3ENSG00000118482ENST00000262043p.A1424Sc.4270G>TSubstitution - Missense
ZNF451ENSG00000112200ENST00000370706p.N1030Nc.3090C>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000357489p.N982Nc.2946C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.C508Rc.1522T>CSubstitution - Missense
DSTENSG00000151914ENST00000370769p.C834Rc.2500T>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.C508Rc.1522T>CSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.G876Vc.2627G>TSubstitution - Missense
MOXD1ENSG00000079931ENST00000367963p.E357Dc.1071G>CSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.G462fs*14c.1382_1383insACInsertion - Frameshift
KIAA0408ENSG00000189367ENST00000483725p.P504Pc.1512C>TSubstitution - coding silent
TRMT11ENSG00000066651ENST00000334379p.?c.1008-6G>AUnknown
C9orf84ENSG00000165181ENST00000394779p.F75Lc.223T>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.G400Cc.1198G>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.G400Cc.1198G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.A640Sc.1918G>TSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.V282Ac.845T>CSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.Y352_Y408del57c.1054_1224del171Deletion - In frame
ZNF211ENSG00000121417ENST00000544273p.A33Dc.98C>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.R193Wc.577C>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.G409Vc.1226G>TSubstitution - Missense
ZFP28ENSG00000196867ENST00000301318p.R567Ic.1700G>TSubstitution - Missense
ZNF470ENSG00000197016ENST00000330619p.L271Lc.813T>CSubstitution - coding silent
LONP1ENSG00000196365ENST00000360614p.C637Cc.1911C>TSubstitution - coding silent
SAFB2ENSG00000130254ENST00000252542p.K532*c.1594A>TSubstitution - Nonsense
GPKOWENSG00000068394ENST00000156109p.A345Vc.1034C>TSubstitution - Missense
KCND1ENSG00000102057ENST00000218176p.R92Hc.275G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.R169Cc.505C>TSubstitution - Missense
NPAS2ENSG00000170485ENST00000335681p.K612Nc.1836G>TSubstitution - Missense
NPAS2ENSG00000170485ENST00000542504p.K677Nc.2031G>TSubstitution - Missense
MAPK8IP2ENSG00000008735ENST00000008876p.Q500Hc.1500G>TSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.V272Lc.814G>TSubstitution - Missense
CMTM1ENSG00000089505ENST00000379500p.D198Yc.592G>TSubstitution - Missense
CMTM1ENSG00000089505ENST00000336328p.D28Yc.82G>TSubstitution - Missense
STARD4ENSG00000164211ENST00000296632p.A189Ac.567C>TSubstitution - coding silent
SLCO6A1ENSG00000205359ENST00000379807p.D490Ec.1470T>ASubstitution - Missense
ACVR2BENSG00000114739ENST00000352511p.E23Kc.67G>ASubstitution - Missense
MFSD1ENSG00000118855ENST00000415822p.C322Fc.965G>TSubstitution - Missense
MFSD1ENSG00000118855ENST00000264266p.C273Fc.818G>TSubstitution - Missense
MLF1ENSG00000178053ENST00000392822p.V88Vc.264G>TSubstitution - coding silent
MLF1ENSG00000178053ENST00000392822p.P89Tc.265C>ASubstitution - Missense
SEMA4FENSG00000135622ENST00000357877p.P91Pc.273C>ASubstitution - coding silent
LOXL3ENSG00000115318ENST00000264094p.N698Kc.2094C>ASubstitution - Missense
CCDC142ENSG00000135637ENST00000290418p.V549Lc.1645G>CSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.A1982Ac.5946G>ASubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.Q206Kc.616C>ASubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.?c.523+5G>TUnknown
HNRNPH1ENSG00000169045ENST00000393432p.Y356Cc.1067A>GSubstitution - Missense
HNRNPH1ENSG00000169045ENST00000356731p.Y356Cc.1067A>GSubstitution - Missense
ENST00000454347p.G115Vc.344G>TSubstitution - Missense
ENST00000330166p.K1427Nc.4281G>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.G947Sc.2839G>ASubstitution - Missense
ENST00000330166p.G947Sc.2839G>ASubstitution - Missense
PRDM5ENSG00000138738ENST00000264808p.R281Rc.841A>CSubstitution - coding silent
SEC24DENSG00000150961ENST00000280551p.G46Gc.138G>TSubstitution - coding silent
ARSJENSG00000180801ENST00000315366p.D395Ec.1185C>ASubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.I508fs*3c.1522delADeletion - Frameshift
ALPK1ENSG00000073331ENST00000458497p.P880Lc.2639C>TSubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.E1827Ec.5481G>ASubstitution - coding silent
EGFENSG00000138798ENST00000265171p.Q482Qc.1446A>GSubstitution - coding silent
PARK2ENSG00000185345ENST00000366898p.R314Wc.940C>TSubstitution - Missense
PARK2ENSG00000185345ENST00000366892p.R314Wc.940C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L1268Vc.3802C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L1268Vc.3802C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.L1275Vc.3823C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.K7359Nc.22077G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.K7359Nc.22077G>CSubstitution - Missense
ABRACLENSG00000146386ENST00000461027p.E39Kc.115G>ASubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.F137Fc.411C>TSubstitution - coding silent
GLI2ENSG00000074047ENST00000361492p.P1554Lc.4661C>TSubstitution - Missense
STEAP2ENSG00000157214ENST00000394626p.H79Rc.236A>GSubstitution - Missense
YWHAGENSG00000170027ENST00000307630p.S155Sc.465C>TSubstitution - coding silent
GNA12ENSG00000146535ENST00000275364p.R106fs*2c.312_319delCTCAAGGGDeletion - Frameshift
PCBP1ENSG00000169564ENST00000303577p.K121*c.361A>TSubstitution - Nonsense
SOX11ENSG00000176887ENST00000322002p.R82Mc.245G>TSubstitution - Missense
MLPHENSG00000115648ENST00000264605p.E391Kc.1171G>ASubstitution - Missense
FBXO36ENSG00000153832ENST00000283946p.?c.378+5C>TUnknown
PRSS45ENSG00000188086ENST00000442359p.T191Tc.573C>TSubstitution - coding silent
ACKR2ENSG00000144648ENST00000442925p.V168Ic.502G>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.R1664Hc.4991G>ASubstitution - Missense
C18orf25ENSG00000152242ENST00000282059p.T27Kc.80C>ASubstitution - Missense
NM_007332.1p.N1008Kc.3024C>ASubstitution - Missense
ENST00000400156_v68p.P143Lc.428C>TSubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.R1115Rc.3345G>ASubstitution - coding silent
ENST00000357934p.L745Lc.2235G>TSubstitution - coding silent
ENST00000356067p.L709Lc.2127G>TSubstitution - coding silent
FRG1BENSG00000149531ENST00000278882p.K152Rc.455A>GSubstitution - Missense
USP43ENSG00000154914ENST00000285199p.G596Gc.1788C>ASubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.R32Cc.94C>TSubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.E523*c.1567G>TSubstitution - Nonsense
DFNB59ENSG00000204311ENST00000375129p.L248Lc.742T>CSubstitution - coding silent
CECR2ENSG00000099954ENST00000400585p.E368Ec.1104G>ASubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.V197Vc.591A>TSubstitution - coding silent
DNMT3BENSG00000088305ENST00000201963p.E228Gc.683A>GSubstitution - Missense
FRG1BENSG00000149531ENST00000278882p.K111*c.331A>TSubstitution - Nonsense
ITSN2ENSG00000198399ENST00000406921p.K1209Rc.3626A>GSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.N498Nc.1494C>TSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000391987p.P624Pc.1872C>TSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000439140p.S293Sc.879C>TSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000286195p.S293Sc.879C>TSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000450242p.S293Sc.879C>TSubstitution - coding silent
ENST00000356127p.?c.38725+4C>TUnknown
TGFB1I1ENSG00000140682ENST00000394863p.?c.519+1G>TUnknown
TGFB1I1ENSG00000140682ENST00000394858p.?c.468+1G>TUnknown
ITGAXENSG00000140678ENST00000268296p.V256Fc.766G>TSubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.P252Pc.756A>GSubstitution - coding silent
HHLA2ENSG00000114455ENST00000357759p.P252Pc.756A>GSubstitution - coding silent
BBXENSG00000114439ENST00000325805p.T152Ic.455C>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.K30Ec.88A>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.K30Ec.88A>GSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.K1209Rc.3626A>GSubstitution - Missense
ZNF320ENSG00000182986ENST00000391781p.Q88Kc.262C>ASubstitution - Missense
ZNF534ENSG00000198633ENST00000301085p.S71fs*2c.211_212insAInsertion - Frameshift
ZNF610ENSG00000167554ENST00000327920p.R420Ic.1259G>TSubstitution - Missense
ENST00000570743p.Q1602Qc.4806G>ASubstitution - coding silent
CADENSG00000084774ENST00000264705p.K1934Kc.5802G>ASubstitution - coding silent
TRIM54ENSG00000138100ENST00000296098p.P79Pc.237A>GSubstitution - coding silent
NM_032546.2p.P63Pc.189A>GSubstitution - coding silent
NEFHENSG00000100285ENST00000310624p.E891Dc.2673A>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.?c.796-9C>AUnknown
PAK7ENSG00000101349ENST00000378429p.P607Pc.1821C>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1566Ac.4696A>GSubstitution - Missense
ENST00000405167p.T1566Ac.4696A>GSubstitution - Missense
ENST00000405167p.S1546Sc.4638C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S2103Fc.6308C>TSubstitution - Missense
ENST00000405167p.S2103Fc.6308C>TSubstitution - Missense
ENST00000405167p.S2858Fc.8573C>TSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.T329Tc.987G>ASubstitution - coding silent
PRKG2ENSG00000138669ENST00000395578p.?c.1940+7C>AUnknown
PRKG2ENSG00000138669ENST00000395578p.?c.1940+8C>AUnknown
DCBLD2ENSG00000057019ENST00000326840p.C99Fc.296G>TSubstitution - Missense
OR5H15ENSG00000233412ENST00000356526p.H54Hc.162C>TSubstitution - coding silent
OXSMENSG00000151093ENST00000280701p.T410Ic.1229C>TSubstitution - Missense
NRROSENSG00000174004ENST00000328557p.D138Ec.414C>GSubstitution - Missense
SLC51AENSG00000163959ENST00000296327p.V73Ic.217G>ASubstitution - Missense
SSX1ENSG00000126752ENST00000376919p.H140Yc.418C>TSubstitution - Missense
SSX3ENSG00000165584ENST00000376895p.I88Vc.262A>GSubstitution - Missense
BCORENSG00000183337ENST00000378444p.R243Lc.728G>TSubstitution - Missense
MED14ENSG00000180182ENST00000324817p.G632Ac.1895G>CSubstitution - Missense
CXorf30ENSG00000205081ENST00000378657p.R617Ic.1850G>TSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.Y999*c.2997C>GSubstitution - Nonsense
ENSG00000176593ENST00000313957p.L73Vc.217C>GSubstitution - Missense
ENSG00000176593ENST00000313957p.L73Vc.217C>GSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.E293Dc.879A>CSubstitution - Missense
ENST00000226258p.R309Rc.925A>CSubstitution - coding silent
TLCD2ENSG00000185561ENST00000330676p.V179Fc.535G>TSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.G231Dc.692G>ASubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.S246Sc.738C>TSubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.F690Lc.2070T>GSubstitution - Missense
URI1ENSG00000105176ENST00000542441p.E485*c.1453G>TSubstitution - Nonsense
GCC1ENSG00000179562ENST00000321407p.L410Vc.1228C>GSubstitution - Missense
TMEM229AENSG00000234224ENST00000455783p.T276Tc.828G>TSubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.C1474Wc.4422C>GSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.C733Wc.2199C>GSubstitution - Missense
C20orf196ENSG00000171984ENST00000303142p.A82Ac.246T>CSubstitution - coding silent
BMP7ENSG00000101144ENST00000395863p.T399Tc.1197G>ASubstitution - coding silent
BCAS1ENSG00000064787ENST00000395961p.A319Sc.955G>TSubstitution - Missense
ZFP64ENSG00000020256ENST00000361387p.K468Ec.1402A>GSubstitution - Missense
ADNPENSG00000101126ENST00000349014p.Y378Fc.1133A>TSubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.P142Pc.426G>TSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.L1212Fc.3634C>TSubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.R409Rc.1227G>TSubstitution - coding silent
SHBENSG00000107338ENST00000377707p.?c.718-10C>TUnknown
LRRC19ENSG00000184434ENST00000380055p.H241Dc.721C>GSubstitution - Missense
CEP95ENSG00000258890ENST00000556440p.L309Fc.925C>TSubstitution - Missense
CEP95ENSG00000258890ENST00000556440p.L309Fc.925C>TSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.V1179Fc.3535G>TSubstitution - Missense
ACEENSG00000159640ENST00000290863p.P11Pc.33C>ASubstitution - coding silent
ACEENSG00000159640ENST00000490216p.P11Pc.33C>ASubstitution - coding silent
WWP1ENSG00000123124ENST00000517970p.G920*c.2758G>TSubstitution - Nonsense
SLC7A13ENSG00000164893ENST00000297524p.S310Sc.930A>CSubstitution - coding silent
PTK2BENSG00000120899ENST00000397501p.I501Vc.1501A>GSubstitution - Missense
TMIGD1ENSG00000182271ENST00000328886p.R107Kc.320G>ASubstitution - Missense
ALDOCENSG00000109107ENST00000395321p.R22Rc.64C>ASubstitution - coding silent
KSR1ENSG00000141068ENST00000319524p.R886Wc.2656C>TSubstitution - Missense
C21orf88ENSG00000184809ENST00000380612p.G43Rc.127G>ASubstitution - Missense
ENSG00000188474ENST00000339302p.G202Gc.606G>ASubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.P1479_K1482delPAEKc.4435_4446del12Deletion - In frame
DLGAP1ENSG00000170579ENST00000315677p.R372Wc.1114C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000534970p.R84Wc.250C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.P1361Pc.4083C>TSubstitution - coding silent
DSG4ENSG00000175065ENST00000308128p.P647Pc.1941A>CSubstitution - coding silent
DSC3ENSG00000134762ENST00000434452p.K47Qc.139A>CSubstitution - Missense
HRH4ENSG00000134489ENST00000256906p.M276fs*10c.827delTDeletion - Frameshift
DHFRL1ENSG00000178700ENST00000394221p.R33Mc.98G>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.?c.1561-8C>TUnknown
ENST00000434864p.M29Lc.85A>CSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.K1623Qc.4867A>CSubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.Q1194Kc.3580C>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398437p.P207Sc.619C>TSubstitution - Missense
MT1HENSG00000205358ENST00000332374p.?c.94+1_95-1del326Unknown
SALL1ENSG00000103449ENST00000251020p.K489Kc.1467G>ASubstitution - coding silent
NAGPAENSG00000103174ENST00000312251p.N284Tc.851A>CSubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.C395*c.1185C>ASubstitution - Nonsense
NM_032217.3p.T596Ic.1787C>TSubstitution - Missense
MOB1BENSG00000173542ENST00000309395p.?c.182-9G>TUnknown
ENAMENSG00000132464ENST00000396073p.G994Gc.2982G>ASubstitution - coding silent
SULT1E1ENSG00000109193ENST00000226444p.N265fs*9c.789_790insAInsertion - Frameshift
UGT2B4ENSG00000156096ENST00000305107p.P284Pc.852T>CSubstitution - coding silent
ENST00000273612p.A896Gc.2687C>GSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.A737Ac.2211C>TSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.L930Mc.2788C>ASubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.G702Gc.2106A>GSubstitution - coding silent
WEE2ENSG00000214102ENST00000397541p.P452Sc.1354C>TSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.P637Pc.1911G>CSubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.G91Dc.272G>ASubstitution - Missense
HIST1H1CENSG00000187837ENST00000343677p.P200Sc.598C>TSubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.?c.1933-8C>GUnknown
KIF21BENSG00000116852ENST00000332129p.A1530Sc.4588G>TSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.V1075Mc.3223G>ASubstitution - Missense
GON4LENSG00000116580ENST00000361040p.V1075Mc.3223G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.V1075Mc.3223G>ASubstitution - Missense
YY1AP1ENSG00000163374ENST00000295566p.I159Tc.476T>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.?c.3984+8C>TUnknown
C1orf173ENSG00000178965ENST00000326665p.E1453Kc.4357G>ASubstitution - Missense
GNG12ENSG00000172380ENST00000370982p.V32Vc.96T>GSubstitution - coding silent
CACHD1ENSG00000158966ENST00000290039p.?c.1629+1G>AUnknown
CYP2J2ENSG00000134716ENST00000371204p.L320Lc.960G>TSubstitution - coding silent
TPM1ENSG00000140416ENST00000288398p.A183Ac.549T>CSubstitution - coding silent
TPM1ENSG00000140416ENST00000358278p.A183Ac.549T>CSubstitution - coding silent
TCL1AENSG00000100721ENST00000554012p.?c.120+10G>AUnknown
ASB2ENSG00000100628ENST00000315988p.A31Sc.91G>TSubstitution - Missense
BTBD7ENSG00000011114ENST00000334746p.M727fs*1c.2179delADeletion - Frameshift
GPR68ENSG00000119714ENST00000238699p.A76Vc.227C>TSubstitution - Missense
PPP1R36ENSG00000165807ENST00000298705p.L320Mc.958C>ASubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.L141Lc.423A>GSubstitution - coding silent
CHAMP1ENSG00000198824ENST00000361283p.V218Lc.652G>TSubstitution - Missense
CHAMP1ENSG00000198824ENST00000361283p.E668Ac.2003A>CSubstitution - Missense
EML1ENSG00000066629ENST00000334192p.T821Tc.2463G>ASubstitution - coding silent
F3ENSG00000117525ENST00000334047p.V107Fc.319G>TSubstitution - Missense
DR1ENSG00000117505ENST00000370267p.E89delEc.263_265delAAGDeletion - In frame
GBP7ENSG00000213512ENST00000294671p.Q513Rc.1538A>GSubstitution - Missense
CALML4ENSG00000129007ENST00000467889p.T88Tc.264G>CSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.P2751Sc.8251C>TSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.A1023Sc.3067G>TSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.Q850Rc.2549A>GSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.S696Tc.2087G>CSubstitution - Missense
C9ENSG00000113600ENST00000263408p.S261Sc.783A>GSubstitution - coding silent
EXD1ENSG00000178997ENST00000314992p.S470Pc.1408T>CSubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.R219Tc.656G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T3865Tc.11595A>CSubstitution - coding silent
LRRC59ENSG00000108829ENST00000225972p.Q160Hc.480G>TSubstitution - Missense
NM_003954p.?c.1291-9C>TUnknown
ATP2C2ENSG00000064270ENST00000262429p.?c.418-6G>CUnknown
WWOXENSG00000186153ENST00000355860p.T174Tc.522A>TSubstitution - coding silent
WWOXENSG00000186153ENST00000566780p.A292Ac.876T>GSubstitution - coding silent
STAT4ENSG00000138378ENST00000358470p.V304Ic.910G>ASubstitution - Missense
DNAJC10ENSG00000077232ENST00000264065p.S354Sc.1062G>ASubstitution - coding silent
NEUROD1ENSG00000162992ENST00000295108p.G18Rc.52G>CSubstitution - Missense
SESTD1ENSG00000187231ENST00000428443p.Q273Kc.817C>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.G200Rc.598G>CSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.G200Rc.598G>CSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.L129Lc.387C>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000354981p.S1099Tc.3295T>ASubstitution - Missense
LRCH2ENSG00000130224ENST00000317135p.I489Fc.1465A>TSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.M1123Vc.3367A>GSubstitution - Missense
ENST00000422365_v68p.I379Fc.1135A>TSubstitution - Missense
YTHDF3ENSG00000185728ENST00000539294p.P385Sc.1153C>TSubstitution - Missense
OPRK1ENSG00000082556ENST00000265572p.A166Dc.497C>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.P330Qc.989C>ASubstitution - Missense
TMEM169ENSG00000163449ENST00000295658p.L124Lc.370T>CSubstitution - coding silent
NCOR1ENSG00000141027ENST00000268712p.E830Gc.2489A>GSubstitution - Missense
TVP23CENSG00000175106ENST00000225576p.I49Vc.145A>GSubstitution - Missense
TEX13BENSG00000170925ENST00000302917p.G311Gc.933C>GSubstitution - coding silent
TCEAL1ENSG00000172465ENST00000372626p.P34Sc.100C>TSubstitution - Missense
RAB40ALENSG00000102128ENST00000218249p.Q73Kc.217C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.R8882Qc.26645G>ASubstitution - Missense
ENST00000331986p.R4515Qc.13544G>ASubstitution - Missense
IPPKENSG00000127080ENST00000287996p.S45Sc.135G>ASubstitution - coding silent
ENST00000428290_v65p.V125Lc.373G>TSubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.A667Tc.1999G>ASubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.D346Dc.1038C>TSubstitution - coding silent
ARHGEF12ENSG00000196914ENST00000397843p.L1197Lc.3591G>ASubstitution - coding silent
PDZD3ENSG00000172367ENST00000322712p.G24Gc.72C>GSubstitution - coding silent
RNF214ENSG00000167257ENST00000531452p.A629_Q630insPc.1888_1889insCCCInsertion - In frame
HTR3BENSG00000149305ENST00000260191p.A21Vc.62C>TSubstitution - Missense
TARDBPENSG00000120948ENST00000240185p.?c.543+8C>TUnknown
FNDC7ENSG00000143107ENST00000370017p.R224Wc.670C>TSubstitution - Missense
AMY2BENSG00000240038ENST00000361355p.D111Ac.332A>CSubstitution - Missense
WACENSG00000095787ENST00000428935p.T199Pc.595A>CSubstitution - Missense
BMI1ENSG00000168283ENST00000376663p.Y211Hc.631T>CSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.K1418Qc.4252A>CSubstitution - Missense
PDILTENSG00000169340ENST00000302451p.E550Kc.1648G>ASubstitution - Missense
HTR6ENSG00000158748ENST00000289753p.?c.874-5C>TUnknown
CFHENSG00000000971ENST00000367429p.?c.2956+9C>AUnknown
A1CFENSG00000148584ENST00000373995p.P365Pc.1095C>ASubstitution - coding silent
A1CFENSG00000148584ENST00000282641p.P357Pc.1071C>ASubstitution - coding silent
A1CFENSG00000148584ENST00000374001p.P357Pc.1071C>ASubstitution - coding silent
C10orf71ENSG00000177354ENST00000323868p.C325Cc.975C>TSubstitution - coding silent
ENST00000426033p.C2419Cc.7257C>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.S2201Sc.6603C>TSubstitution - coding silent
SV2BENSG00000185518ENST00000394232p.G76Gc.228C>GSubstitution - coding silent
IQGAP1ENSG00000140575ENST00000268182p.V1150Fc.3448G>TSubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.A129Tc.385G>ASubstitution - Missense
PAPLNENSG00000100767ENST00000340738p.W548Sc.1643G>CSubstitution - Missense
MAP3K11ENSG00000173327ENST00000309100p.V336Fc.1006G>TSubstitution - Missense
EHBP1L1ENSG00000173442ENST00000309295p.A612Vc.1835C>TSubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.P171Lc.512C>TSubstitution - Missense
SLC22A10ENSG00000184999ENST00000332793p.T494fs*32c.1479_1480insTInsertion - Frameshift
PBLDENSG00000108187ENST00000432941p.I7Tc.20T>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.G299Gc.897C>ASubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.E1524_A1531>D*c.4572_4591>11Complex - deletion inframe
XM_052561.7p.I1234Tc.3701T>CSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.G70Gc.210T>GSubstitution - coding silent
ENST00000409706p.T125Tc.375G>ASubstitution - coding silent
CATSPER1ENSG00000175294ENST00000312106p.R365Wc.1093C>TSubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.V386Ic.1156G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.E3740Kc.11218G>ASubstitution - Missense
VPS72ENSG00000163159ENST00000368892p.Y89Cc.266A>GSubstitution - Missense
CPSF3LENSG00000127054ENST00000435064p.A405Ac.1215A>CSubstitution - coding silent
MFN2ENSG00000116688ENST00000235329p.Q494Hc.1482G>TSubstitution - Missense
PHGDHENSG00000092621ENST00000369409p.A528Vc.1583C>TSubstitution - Missense
FBXO33ENSG00000165355ENST00000298097p.L174Rc.521T>GSubstitution - Missense
FAM151AENSG00000162391ENST00000302250p.?c.941-10G>AUnknown
MROH7ENSG00000184313ENST00000421030p.S502Sc.1506G>ASubstitution - coding silent
ELAVL4ENSG00000162374ENST00000357083p.M1Rc.2T>GSubstitution - Missense
CYP4B1ENSG00000142973ENST00000271153p.?c.1204+5G>TUnknown
FBN1ENSG00000166147ENST00000316623p.R1125Qc.3374G>ASubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.E2717Kc.8149G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.D122Yc.364G>TSubstitution - Missense
SERF2ENSG00000140264ENST00000409960p.C118Rc.352T>CSubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.L3Hc.8T>ASubstitution - Missense
IVLENSG00000163207ENST00000368764p.H584Nc.1750C>ASubstitution - Missense
ENST00000362017p.S204Sc.612G>ASubstitution - coding silent
REP15ENSG00000174236ENST00000310791p.K105Mc.314A>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.V170Ic.508G>ASubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.F979Fc.2937C>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000280241p.E130*c.388G>TSubstitution - Nonsense
DLG2ENSG00000150672ENST00000376104p.K723Ic.2168A>TSubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.K657Ic.1970A>TSubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.K618Ic.1853A>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.L1804Fc.5412G>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.L1804Fc.5412G>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.A985Ec.2954C>ASubstitution - Missense
FAM214AENSG00000047346ENST00000261844p.P223Lc.668C>TSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.Q2555Qc.7665G>ASubstitution - coding silent
SPRTNENSG00000010072ENST00000295050p.N123Nc.369C>TSubstitution - coding silent
GNPATENSG00000116906ENST00000366647p.P385Pc.1155C>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.E8479*c.25435G>TSubstitution - Nonsense
SU_OBSCN.1p.E8349*c.25045G>TSubstitution - Nonsense
ATP2B1ENSG00000070961ENST00000261173p.V865Vc.2595A>TSubstitution - coding silent
ATP2B1ENSG00000070961ENST00000359142p.V865Vc.2595A>TSubstitution - coding silent
ATP2B1ENSG00000070961ENST00000261173p.V862Vc.2586T>GSubstitution - coding silent
ENST00000458043_v65p.L1777Mc.5329C>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.A783Dc.2348C>ASubstitution - Missense
DCTN2ENSG00000175203ENST00000434715p.D175Yc.523G>TSubstitution - Missense
DCTN2ENSG00000175203ENST00000434715p.D175Yc.523G>TSubstitution - Missense
GOLT1BENSG00000111711ENST00000229314p.L22Lc.66G>TSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.H481Hc.1443C>TSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.H481Hc.1443C>TSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000545875p.S319Sc.957G>ASubstitution - coding silent
STK32CENSG00000165752ENST00000368625p.A111Ac.333C>TSubstitution - coding silent
STK32CENSG00000165752ENST00000298630p.A98Ac.294C>TSubstitution - coding silent
CPXM2ENSG00000121898ENST00000241305p.Y527Yc.1581C>TSubstitution - coding silent
C11orf30ENSG00000158636ENST00000334736p.E846*c.2536G>TSubstitution - Nonsense
MOGAT2ENSG00000166391ENST00000198801p.E228Kc.682G>ASubstitution - Missense
FANCIENSG00000140525ENST00000310775p.P998Sc.2992C>TSubstitution - Missense
TICRRENSG00000140534ENST00000268138p.S57Ic.170G>TSubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.I85Vc.253A>GSubstitution - Missense
SLC28A1ENSG00000156222ENST00000338602p.I85Vc.253A>GSubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.G950Vc.2849G>TSubstitution - Missense
SLC22A17ENSG00000092096ENST00000206544p.V197Lc.589G>TSubstitution - Missense
PNPENSG00000198805ENST00000361505p.N243Nc.729C>TSubstitution - coding silent
MTA1ENSG00000182979ENST00000331320p.G277Gc.831G>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.P1594Tc.4780C>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.M1825Ic.5475G>TSubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.L660Lc.1978C>TSubstitution - coding silent
CTSGENSG00000100448ENST00000216336p.L129Lc.387G>TSubstitution - coding silent
ZNF695ENSG00000197472ENST00000339986p.H478Dc.1432C>GSubstitution - Missense
SRSF10ENSG00000188529ENST00000492112p.R62Rc.186T>CSubstitution - coding silent
RGS7ENSG00000182901ENST00000366565p.S474Tc.1420T>ASubstitution - Missense
ID3ENSG00000117318ENST00000374561p.Q81Hc.243G>TSubstitution - Missense
FGF14ENSG00000102466ENST00000376143p.L56Lc.168C>ASubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.F722Fc.2166C>TSubstitution - coding silent
ENST00000538912p.?c.788-5G>AUnknown
STAB2ENSG00000136011ENST00000388887p.R1154Qc.3461G>ASubstitution - Missense
GAS2L3ENSG00000139354ENST00000266754p.G644Gc.1932G>TSubstitution - coding silent
PIWIL4ENSG00000134627ENST00000299001p.?c.1638+6T>AUnknown
SORCS3ENSG00000156395ENST00000369701p.?c.3238-2A>TUnknown
C10orf76ENSG00000120029ENST00000311122p.P20Pc.60A>GSubstitution - coding silent
ENST00000393462p.G846Gc.2538G>CSubstitution - coding silent
TACC2ENSG00000138162ENST00000369005p.V669Fc.2005G>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.V669Fc.2005G>TSubstitution - Missense
DHTKD1ENSG00000181192ENST00000263035p.A71Tc.211G>ASubstitution - Missense
NCDNENSG00000020129ENST00000373243p.G141Gc.423G>ASubstitution - coding silent
NCDNENSG00000020129ENST00000373253p.G124Gc.372G>ASubstitution - coding silent
ADAMTS4ENSG00000158859ENST00000367996p.C536Fc.1607G>TSubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.C536Fc.1607G>TSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.Y742Yc.2226T>CSubstitution - coding silent
IGSF9ENSG00000085552ENST00000361509p.A447Tc.1339G>ASubstitution - Missense
KCNJ10ENSG00000177807ENST00000368089p.Q212Hc.636G>TSubstitution - Missense
FAM189A1ENSG00000104059ENST00000261275p.G410Gc.1230C>TSubstitution - coding silent
CPMENSG00000135678ENST00000551568p.L437Lc.1311T>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.L233Mc.697C>ASubstitution - Missense
PSMD13ENSG00000185627ENST00000431206p.K254Ec.760A>GSubstitution - Missense
PSMD13ENSG00000185627ENST00000532097p.K252Ec.754A>GSubstitution - Missense
GRIA4ENSG00000152578ENST00000393127p.G675Rc.2023G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S1055Ac.3163T>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S1055Ac.3163T>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.G1813Dc.5438G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.R193Wc.577C>TSubstitution - Missense
CNKSR1ENSG00000142675ENST00000361530p.H687Yc.2059C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
KLC4ENSG00000137171ENST00000394056p.R492Qc.1475G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.S1955Sc.5865G>ASubstitution - coding silent
KIAA1958ENSG00000165185ENST00000337530p.T424Mc.1271C>TSubstitution - Missense
PCED1BENSG00000179715ENST00000546455p.R77Hc.230G>ASubstitution - Missense
EGFL6ENSG00000198759ENST00000380602p.?c.1184-8C>GUnknown
CXXC4ENSG00000168772ENST00000426831p.P34Hc.101C>ASubstitution - Missense
REXO4ENSG00000148300ENST00000371942p.F237Fc.711C>TSubstitution - coding silent
RIMKLBENSG00000166532ENST00000357529p.R93Cc.277C>TSubstitution - Missense
IFNA7ENSG00000214042ENST00000239347p.M155Tc.464T>CSubstitution - Missense
TMEM74ENSG00000164841ENST00000297459p.R230Hc.689G>ASubstitution - Missense
METTL24ENSG00000053328ENST00000338882p.N201Nc.603C>TSubstitution - coding silent
ZNF454ENSG00000178187ENST00000320129p.R292Ic.875G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.E930*c.2788G>TSubstitution - Nonsense
UGT1A9ENSG00000241119ENST00000354728p.T240Tc.720G>ASubstitution - coding silent
GPR84ENSG00000139572ENST00000267015p.M183Ic.549G>ASubstitution - Missense
TENC1ENSG00000111077ENST00000314276p.A1277fs*15c.3828delGDeletion - Frameshift
TENC1ENSG00000111077ENST00000314250p.A1267fs*15c.3798delGDeletion - Frameshift
KRT2ENSG00000172867ENST00000309680p.Y232fs*23c.693delGDeletion - Frameshift
USH2AENSG00000042781ENST00000307340p.Q172Kc.514C>ASubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.G337Gc.1011C>ASubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.S1840Yc.5519C>ASubstitution - Missense
UBE3BENSG00000151148ENST00000434735p.E91*c.271G>TSubstitution - Nonsense
ACACBENSG00000076555ENST00000377848p.V227Vc.681G>ASubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.R645*c.1933C>TSubstitution - Nonsense
UTP14CENSG00000253797ENST00000521776p.S704Sc.2112C>TSubstitution - coding silent
SIN3AENSG00000169375ENST00000394947p.Q1056*c.3166C>TSubstitution - Nonsense
OR6C68ENSG00000205327ENST00000548615p.T222Kc.665C>ASubstitution - Missense
CXCL12ENSG00000107562ENST00000374426p.A114Sc.340G>TSubstitution - Missense
NM_033667.1p.F252Fc.756C>TSubstitution - coding silent
ITGB1ENSG00000150093ENST00000396033p.F252Fc.756C>TSubstitution - coding silent
ITGB1ENSG00000150093ENST00000423113p.F252Fc.756C>TSubstitution - coding silent
ZEB1ENSG00000148516ENST00000320985p.D536Gc.1607A>GSubstitution - Missense
KIF1BENSG00000054523ENST00000263934p.S1024Ic.3071G>TSubstitution - Missense
UGGT2ENSG00000102595ENST00000376747p.?c.758-4G>AUnknown
OXGR1ENSG00000165621ENST00000298440p.K320Kc.960A>GSubstitution - coding silent
SOX21ENSG00000125285ENST00000376945p.K47Rc.140A>GSubstitution - Missense
NUTM2DENSG00000214562ENST00000381697p.V43Vc.129A>GSubstitution - coding silent
ENST00000358313p.V228Lc.682G>CSubstitution - Missense
ENST00000358313p.G281Rc.841G>ASubstitution - Missense
NUTM2DENSG00000214562ENST00000412718p.V43Vc.129A>GSubstitution - coding silent
C10orf11ENSG00000148655ENST00000372499p.A164Vc.491C>TSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.S501Sc.1503C>TSubstitution - coding silent
IBA57-AS1ENSG00000203684ENST00000366713p.P63Tc.187C>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.P245Pc.735G>ASubstitution - coding silent
ENST00000349637p.P245Pc.735G>ASubstitution - coding silent
OR8D2ENSG00000197263ENST00000357438p.L55Ic.163C>ASubstitution - Missense
UBASH3BENSG00000154127ENST00000284273p.L580Ic.1738C>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.V849Mc.2545G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.V849Mc.2545G>ASubstitution - Missense
ENST00000328974p.?c.278-5T>CUnknown
FCRL1ENSG00000163534ENST00000368176p.T200Sc.599C>GSubstitution - Missense
ETV3ENSG00000117036ENST00000368192p.L325Lc.975C>ASubstitution - coding silent
ENST00000402751p.P461Lc.1382C>TSubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.N846Sc.2537A>GSubstitution - Missense
ART5ENSG00000167311ENST00000397068p.S164Sc.492C>TSubstitution - coding silent
TEAD1ENSG00000187079ENST00000361985p.T324Tc.972C>TSubstitution - coding silent
TEAD1ENSG00000187079ENST00000361905p.T309Tc.927C>TSubstitution - coding silent


COSMIC

3 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
NM_002467.2p.V5Ac.14T>CSubstitution - Missense23143597
MYCENSG00000136997ENST00000377970p.V20Ac.59T>CSubstitution - Missense23143597
MKI67ENSG00000148773ENST00000368654p.R2481Kc.7442G>ASubstitution - Missense23143597