Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

NCI-H250 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1734 mutations reported
539 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
GARNL3ENSG00000136895ENST00000373387p.Q1000Hc.3000G>TSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.L115Fc.343C>TSubstitution - Missense
OR51I2ENSG00000187918ENST00000341449p.A190Pc.568G>CSubstitution - Missense
PGRENSG00000082175ENST00000325455p.Q564Qc.1692G>ASubstitution - coding silent
COL20A1ENSG00000101203ENST00000422202p.D296Nc.886G>ASubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.H409Yc.1225C>TSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.?c.1437+10G>TUnknown
EPHA1ENSG00000146904ENST00000275815p.?c.432+4C>AUnknown
NOBOXENSG00000106410ENST00000467773p.R276Rc.826C>ASubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.M1401Ic.4203G>TSubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.Q444Hc.1332A>CSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.F878Fc.2634C>TSubstitution - coding silent
ECM2ENSG00000106823ENST00000444490p.C623Yc.1868G>ASubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.G293Ac.878G>CSubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.A87Dc.260C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S3130Sc.9390C>TSubstitution - coding silent
ADAP1ENSG00000105963ENST00000539900p.?c.422-8C>TUnknown
TBC1D4ENSG00000136111ENST00000377636p.P807Pc.2421C>GSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000360084p.M371Vc.1111A>GSubstitution - Missense
CELA2AENSG00000142615ENST00000359621p.L46fs*17c.134delCDeletion - Frameshift
MYO1AENSG00000166866ENST00000300119p.K553Ec.1657A>GSubstitution - Missense
OR10A3ENSG00000170683ENST00000360759p.L63Lc.189C>TSubstitution - coding silent
CHFRENSG00000072609ENST00000315585p.L534Fc.1602G>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.E1511Kc.4531G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.?c.1437-3T>AUnknown
SU_BRSK2p.L441Ic.1321C>ASubstitution - Missense
PEF1ENSG00000162517ENST00000373703p.Q102Kc.304C>ASubstitution - Missense
ENST00000409706p.?c.297+9G>AUnknown
FLGENSG00000143631ENST00000368799p.S1992*c.5975C>ASubstitution - Nonsense
DNAH3ENSG00000158486ENST00000261383p.R4026Sc.12076C>ASubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.R611Hc.1832G>ASubstitution - Missense
ENST00000331826_v68p.Y199*c.597C>ASubstitution - Nonsense
CACNA1CENSG00000151067ENST00000402845p.Y220Yc.660C>TSubstitution - coding silent
ENSG00000117598ENST00000263177p.A153Sc.457G>TSubstitution - Missense
ENST00000355290p.E332Kc.994G>ASubstitution - Missense
GOSR2ENSG00000108433ENST00000225567p.Q125Hc.375G>TSubstitution - Missense
AK4ENSG00000162433ENST00000545314p.?c.439-10G>AUnknown
SNTG1ENSG00000147481ENST00000518864p.?c.219+4G>TUnknown
C20orf112ENSG00000197183ENST00000326071p.A109Tc.325G>ASubstitution - Missense
SLC6A16ENSG00000063127ENST00000335875p.V577Ic.1729G>ASubstitution - Missense
CLTAENSG00000122705ENST00000242285p.S109Ic.326G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.E85*c.253G>TSubstitution - Nonsense
SIGLEC8ENSG00000105366ENST00000321424p.A80Sc.238G>TSubstitution - Missense
PSAPL1ENSG00000178597ENST00000319098p.P234Hc.701C>ASubstitution - Missense
C21orf33ENSG00000160221ENST00000291577p.A183Ac.549G>TSubstitution - coding silent
CALCRENSG00000004948ENST00000394441p.P439Ac.1315C>GSubstitution - Missense
KRTAP8-1ENSG00000183640ENST00000329621p.P12Qc.35C>ASubstitution - Missense
SYT5ENSG00000129990ENST00000354308p.T257Tc.771C>ASubstitution - coding silent
ENST00000360660p.T833Tc.2499T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E22310Dc.66930A>CSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.D199Yc.595G>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000344425p.?c.387+6C>TUnknown
ZBTB45ENSG00000119574ENST00000354590p.R178Hc.533G>ASubstitution - Missense
LONRF2ENSG00000170500ENST00000393437p.I612Vc.1834A>GSubstitution - Missense
NM_020340.2p.G198Gc.594G>TSubstitution - coding silent
REG3GENSG00000143954ENST00000393897p.D164Yc.490G>TSubstitution - Missense
ENST00000396788p.H837Yc.2509C>TSubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.E420Vc.1259A>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S1448*c.4343C>ASubstitution - Nonsense
SBDSENSG00000126524ENST00000246868p.T77Tc.231A>GSubstitution - coding silent
FREM1ENSG00000164946ENST00000422223p.D1666Nc.4996G>ASubstitution - Missense
NM_001184p.I2164Vc.6490A>GSubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.A22Ac.66G>TSubstitution - coding silent
SOGA3ENSG00000214338ENST00000368268p.N632Kc.1896C>ASubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.P126Pc.378T>ASubstitution - coding silent
FNDC3BENSG00000075420ENST00000336824p.H986Rc.2957A>GSubstitution - Missense
PCDHGA11ENSG00000253873ENST00000398587p.K926Nc.2778G>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.K923Nc.2769G>TSubstitution - Missense
NM_020416.2p.I120Mc.360T>GSubstitution - Missense
SLC12A5ENSG00000124140ENST00000243964p.L704Mc.2110C>ASubstitution - Missense
PDCD6ENSG00000249915ENST00000264933p.G87Dc.260G>ASubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.L602Lc.1804C>TSubstitution - coding silent
MARCOENSG00000019169ENST00000327097p.?c.613+2T>CUnknown
PTPRDENSG00000153707ENST00000381196p.P126Pc.378T>ASubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.P126Pc.378T>ASubstitution - coding silent
MRAP2ENSG00000135324ENST00000257776p.T70Ic.209C>TSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.R495Rc.1483C>ASubstitution - coding silent
POM121L2ENSG00000158553ENST00000444565p.P540Hc.1619C>ASubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.L147Lc.439C>TSubstitution - coding silent
PPP2R2CENSG00000074211ENST00000335585p.I120Mc.360T>GSubstitution - Missense
C19orf47ENSG00000160392ENST00000392035p.I286Ic.858C>TSubstitution - coding silent
CCDC97ENSG00000142039ENST00000269967p.T113Ac.337A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.V711Vc.2133C>GSubstitution - coding silent
GAPTENSG00000175857ENST00000396776p.V84Fc.250G>TSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.P136Tc.406C>ASubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.I449Vc.1345A>GSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.S146Cc.437C>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.C277Fc.830G>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000424866p.A139Ac.417A>CSubstitution - coding silent
RFX4ENSG00000111783ENST00000392842p.P720fs*>16c.2155delTDeletion - Frameshift
KDM2AENSG00000173120ENST00000529006p.C925Cc.2775C>TSubstitution - coding silent
CIDEBENSG00000136305ENST00000336557p.R51Wc.151C>TSubstitution - Missense
OR56B3PENSG00000180913ENST00000316517p.A99Dc.296C>ASubstitution - Missense
TMEM80ENSG00000177042ENST00000397510p.L125Hc.374T>ASubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.L546Ic.1636C>ASubstitution - Missense
PXNENSG00000089159ENST00000424649p.P51Pc.153A>CSubstitution - coding silent
TNFRSF8ENSG00000120949ENST00000263932p.D79Hc.235G>CSubstitution - Missense
CASP12ENSG00000204403ENST00000422698p.S330Sc.990C>GSubstitution - coding silent
ACSM5ENSG00000183549ENST00000331849p.G199Gc.597C>GSubstitution - coding silent
COX16ENSG00000133983ENST00000389912p.V44Mc.130G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.P30Tc.88C>ASubstitution - Missense
RGS16ENSG00000143333ENST00000367558p.K20Ec.58A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.Y190Yc.570C>TSubstitution - coding silent
PLCXD3ENSG00000182836ENST00000377801p.L206Rc.617T>GSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.Q1266*c.3796C>TSubstitution - Nonsense
KIF16BENSG00000089177ENST00000408042p.P1295Pc.3885G>ASubstitution - coding silent
PGM5ENSG00000154330ENST00000396396p.T158Tc.474G>TSubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.G310Sc.928G>ASubstitution - Missense
TECENSG00000135605ENST00000381501p.V71Vc.213C>TSubstitution - coding silent
MTUS1ENSG00000129422ENST00000262102p.S773Sc.2319G>ASubstitution - coding silent
TCP10L2ENSG00000166984ENST00000366832p.E18Dc.54G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.30178+2T>AUnknown
GMEB2ENSG00000101216ENST00000370077p.P504Pc.1512C>TSubstitution - coding silent
LILRB2ENSG00000131042ENST00000314446p.A504Sc.1510G>TSubstitution - Missense
HAO1ENSG00000101323ENST00000378789p.?c.721+4C>AUnknown
MUC4ENSG00000145113ENST00000463781p.L1926Ic.5776C>ASubstitution - Missense
TBCKENSG00000145348ENST00000273980p.D668Yc.2002G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2953Tc.8857G>ASubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.P1341Ac.4021C>GSubstitution - Missense
UGT1A10ENSG00000242515ENST00000344644p.T240Tc.720G>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.P1321Tc.3961C>ASubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.?c.2814+5G>TUnknown
MROH2AENSG00000185038ENST00000389758p.T1656Tc.4968G>ASubstitution - coding silent
UGT1A9ENSG00000241119ENST00000354728p.V496Ec.1487T>ASubstitution - Missense
DNERENSG00000187957ENST00000341772p.Y677Nc.2029T>ASubstitution - Missense
STAG1ENSG00000118007ENST00000383202p.R534Lc.1601G>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T3973Pc.11917A>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.?c.1842-6G>TUnknown
SLC6A20ENSG00000163817ENST00000358525p.W539Lc.1616G>TSubstitution - Missense
ENST00000373468p.G766Ec.2297G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000448662p.P373Pc.1119A>TSubstitution - coding silent
EPXENSG00000121053ENST00000225371p.N153Kc.459C>ASubstitution - Missense
GABRR1ENSG00000146276ENST00000454853p.A465Ec.1394C>ASubstitution - Missense
RSPO2ENSG00000147655ENST00000276659p.R195Ic.584G>TSubstitution - Missense
ENST00000405167p.L1681Lc.5043T>CSubstitution - coding silent
UNC5DENSG00000156687ENST00000287272p.A845Dc.2534C>ASubstitution - Missense
ENST00000318252p.M52Ic.156G>ASubstitution - Missense
ENST00000405167p.A1982Tc.5944G>ASubstitution - Missense
ENST00000405167p.A1918Tc.5752G>ASubstitution - Missense
SLC22A14ENSG00000144671ENST00000273173p.V137Lc.409G>TSubstitution - Missense
ENST00000396788p.L838Fc.2512C>TSubstitution - Missense
SLC19A3ENSG00000135917ENST00000258403p.S463Tc.1387T>ASubstitution - Missense
NYAP1ENSG00000166924ENST00000300179p.L234Lc.702G>TSubstitution - coding silent
CCDC14ENSG00000175455ENST00000310351p.L442Lc.1324C>TSubstitution - coding silent
NAA50ENSG00000121579ENST00000240922p.?c.332+2_333del968Unknown
RNF150ENSG00000170153ENST00000420921p.T227Ic.680C>TSubstitution - Missense
GSG1LENSG00000169181ENST00000380897p.C137Fc.410G>TSubstitution - Missense
SLC6A20ENSG00000163817ENST00000353278p.W502Lc.1505G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.R846Lc.2537G>TSubstitution - Missense
PI4K2BENSG00000038210ENST00000264864p.N390Hc.1168A>CSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.?c.592+9G>AUnknown
PTPRKENSG00000152894ENST00000368226p.G1381Vc.4142G>TSubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.T170Ic.509C>TSubstitution - Missense
ENST00000395106p.K26Ec.76A>GSubstitution - Missense
PABPC1ENSG00000070756ENST00000318607p.Q285Kc.853C>ASubstitution - Missense
ENST00000316490_v65p.G3209Wc.9625G>TSubstitution - Missense
CD177ENSG00000204936ENST00000378009p.?c.53-9C>AUnknown
L3MBTL1ENSG00000185513ENST00000373134p.R269Cc.805C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T638Tc.1914T>CSubstitution - coding silent
PALLDENSG00000129116ENST00000508898p.P143Hc.428C>ASubstitution - Missense
RCOR3ENSG00000117625ENST00000419091p.S411Fc.1232C>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000421836p.P83Pc.249C>ASubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.S733Ic.2198G>TSubstitution - Missense
SRPXENSG00000101955ENST00000343800p.G142Vc.425G>TSubstitution - Missense
MYO3AENSG00000095777ENST00000543632p.A500Ac.1500G>TSubstitution - coding silent
ACMSDENSG00000153086ENST00000356140p.A154Vc.461C>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000398814p.T485Sc.1453A>TSubstitution - Missense
RRNAD1ENSG00000143303ENST00000368216p.S5Tc.13T>ASubstitution - Missense
MMRN2ENSG00000173269ENST00000372027p.D153Gc.458A>GSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.?c.1422+7C>TUnknown
GZMBENSG00000100453ENST00000382542p.L47Pc.140T>CSubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.G857Wc.2569G>TSubstitution - Missense
NDUFC2ENSG00000151366ENST00000281031p.K105*c.313A>TSubstitution - Nonsense
RGS7ENSG00000182901ENST00000366565p.E315fs*13c.943delGDeletion - Frameshift
TRPM1ENSG00000134160ENST00000397795p.G300Rc.898G>ASubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.C616Fc.1847G>TSubstitution - Missense
HTR6ENSG00000158748ENST00000289753p.?c.715-4G>AUnknown
MAPK8IP3ENSG00000138834ENST00000250894p.P587Ac.1759C>GSubstitution - Missense
GPR139ENSG00000180269ENST00000570682p.F319Sc.956T>CSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.P1379Lc.4136C>TSubstitution - Missense
AK7ENSG00000140057ENST00000267584p.R623Wc.1867C>TSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.P359Hc.1076C>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.M1025Ic.3075G>TSubstitution - Missense
MARCH2ENSG00000099785ENST00000602117p.S196Sc.588C>TSubstitution - coding silent
GNEENSG00000159921ENST00000396594p.R508Cc.1522C>TSubstitution - Missense
DPM1ENSG00000000419ENST00000371588p.R37Sc.109C>ASubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.L937Lc.2811G>TSubstitution - coding silent
C17orf97ENSG00000187624ENST00000360127p.E260Kc.778G>ASubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.A415Ec.1244C>ASubstitution - Missense
MYLK4ENSG00000145949ENST00000274643p.G299Sc.895G>ASubstitution - Missense
MSR1ENSG00000038945ENST00000381998p.E260Kc.778G>ASubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.P616Pc.1848A>GSubstitution - coding silent
ACTR1BENSG00000115073ENST00000289228p.G19Rc.55G>ASubstitution - Missense
ENST00000405167p.G2956Cc.8866G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2858Fc.8573C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2821Vc.8462A>TSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.Y92Yc.276T>CSubstitution - coding silent
PDLIM5ENSG00000163110ENST00000317968p.A187Vc.560C>TSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.K932Kc.2796G>ASubstitution - coding silent
GNEENSG00000159921ENST00000377902p.R477Cc.1429C>TSubstitution - Missense
CORO6ENSG00000167549ENST00000388767p.Q208Kc.622C>ASubstitution - Missense
KRTAP10-12ENSG00000189169ENST00000400365p.R237Sc.709C>ASubstitution - Missense
KRTAP4-5ENSG00000198271ENST00000343246p.C26Fc.77G>TSubstitution - Missense
KRTAP4-8ENSG00000204880ENST00000333822p.T88Nc.263C>ASubstitution - Missense
SKA1ENSG00000154839ENST00000285116p.?c.450-1G>AUnknown
ENSG00000257743ENST00000477922p.S1380Lc.4139C>TSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.D367Nc.1099G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G14730Ec.44189G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E15938Dc.47814A>CSubstitution - Missense
DNMT3AENSG00000119772ENST00000406659p.R96Lc.287G>TSubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.P710fs*4c.2128_2129delCCDeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.H989Dc.2965C>GSubstitution - Missense
ENST00000405167p.L1665Lc.4995T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1572Tc.4716C>TSubstitution - coding silent
ZNF816ENSG00000180257ENST00000357666p.E14*c.40G>TSubstitution - Nonsense
ISOC2ENSG00000063241ENST00000085068p.V88Lc.262G>TSubstitution - Missense
TMLHEENSG00000185973ENST00000334398p.P29Pc.87C>ASubstitution - coding silent
STEAP2ENSG00000157214ENST00000394621p.S9Nc.26G>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.T752Tc.2256G>CSubstitution - coding silent
FAM154AENSG00000155875ENST00000380534p.P122Pc.366T>ASubstitution - coding silent
EZH1ENSG00000108799ENST00000428826p.W114Cc.342G>CSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R185Sc.555G>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.P1307Tc.3919C>ASubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.H353Nc.1057C>ASubstitution - Missense
ENST00000345013p.L72Lc.214C>TSubstitution - coding silent
TESK2ENSG00000070759ENST00000372086p.L440Mc.1318C>ASubstitution - Missense
DCCENSG00000187323ENST00000412726p.G255Vc.764G>TSubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.V64Lc.190G>TSubstitution - Missense
NRSN1ENSG00000152954ENST00000378477p.V138Mc.412G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.R8355Ic.25064G>TSubstitution - Missense
BRINP3ENSG00000162670ENST00000367462p.F576Fc.1728C>TSubstitution - coding silent
ENST00000331986p.E4952Dc.14856G>TSubstitution - Missense
OCRLENSG00000122126ENST00000371113p.R819Pc.2456G>CSubstitution - Missense
CYP1A2ENSG00000140505ENST00000343932p.?c.1166+3G>AUnknown
OR52I1ENSG00000232268ENST00000450052p.A240Ac.720C>ASubstitution - coding silent
GYLTL1BENSG00000165905ENST00000325468p.R547Cc.1639C>TSubstitution - Missense
ART1ENSG00000129744ENST00000250693p.P245Pc.735C>GSubstitution - coding silent
EXOC6ENSG00000138190ENST00000371552p.Q683Lc.2048A>TSubstitution - Missense
PPP3CBENSG00000107758ENST00000360663p.I287Vc.859A>GSubstitution - Missense
ENST00000341155p.R583Gc.1747A>GSubstitution - Missense
TBC1D10CENSG00000175463ENST00000312390p.R100Gc.298C>GSubstitution - Missense
FLT1ENSG00000102755ENST00000541932p.?c.1437-3T>AUnknown
RGS7ENSG00000182901ENST00000366565p.E315fs*13c.943delGDeletion - Frameshift
RGS7ENSG00000182901ENST00000407727p.E315fs*13c.943delGDeletion - Frameshift
DUSP27ENSG00000198842ENST00000361200p.R1006Qc.3017G>ASubstitution - Missense
RCSD1ENSG00000198771ENST00000367854p.S116Wc.347C>GSubstitution - Missense
DBX1ENSG00000109851ENST00000227256p.H301Yc.901C>TSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000375408p.S498Sc.1494C>TSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.R1314Rc.3940A>CSubstitution - coding silent
LIX1LENSG00000152022ENST00000369308p.L291Vc.871C>GSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.N3552Nc.10656C>TSubstitution - coding silent
OR2M5ENSG00000162727ENST00000366476p.L199Ic.595C>ASubstitution - Missense
PMVKENSG00000163344ENST00000368467p.R42Qc.125G>ASubstitution - Missense
TNP1ENSG00000118245ENST00000236979p.D45Nc.133G>ASubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.Q250Lc.749A>TSubstitution - Missense
TEKT4ENSG00000163060ENST00000295201p.A386Ac.1158G>CSubstitution - coding silent
ZNF878ENSG00000257446ENST00000547628p.R355Qc.1064G>ASubstitution - Missense
OCM2ENSG00000135175ENST00000257627p.D5Nc.13G>ASubstitution - Missense
SPG7ENSG00000197912ENST00000341316p.?c.618+3_618+60del58Unknown
C2orf53ENSG00000186143ENST00000335524p.P122Tc.364C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2757Nc.8269G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.I1807Tc.5420T>CSubstitution - Missense
BMP4ENSG00000125378ENST00000559087p.S318Nc.953G>ASubstitution - Missense
KARSENSG00000065427ENST00000319410p.K64Kc.192G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P1138Tc.3412C>ASubstitution - Missense
FBP1ENSG00000165140ENST00000375326p.G320*c.958G>TSubstitution - Nonsense
AHCYL2ENSG00000158467ENST00000474594p.E102Gc.305A>GSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.L1372*c.4115T>ASubstitution - Nonsense
DSC3ENSG00000134762ENST00000434452p.P141Hc.422C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.G21102Ec.63305G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.?c.2434-7C>TUnknown
MUC4ENSG00000145113ENST00000463781p.H3421Qc.10263C>GSubstitution - Missense
ENST00000405167p.D1221Dc.3663C>TSubstitution - coding silent
ENST00000405167p.V1017Ac.3050T>CSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.H409Yc.1225C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.D289Nc.865G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1982Tc.5944G>ASubstitution - Missense
UVSSAENSG00000163945ENST00000389851p.L202Lc.604C>TSubstitution - coding silent
OR2V2ENSG00000182613ENST00000328275p.C180Sc.539G>CSubstitution - Missense
STYXL1ENSG00000127952ENST00000359697p.?c.811-5C>AUnknown
SYNE1ENSG00000131018ENST00000265368p.R8743Ic.26228G>TSubstitution - Missense
QKIENSG00000112531ENST00000392127p.P317Pc.951A>GSubstitution - coding silent
ENST00000451531_v68p.H134Qc.402C>ASubstitution - Missense
ENST00000344519_v68p.G44fs*26c.129_130insTInsertion - Frameshift
NM_000052.2p.?c.2782-1G>TUnknown
FREM1ENSG00000164946ENST00000380894p.D202Nc.604G>ASubstitution - Missense
TIGITENSG00000181847ENST00000383671p.G90Sc.268G>ASubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.?c.592+9G>AUnknown
FCN1ENSG00000085265ENST00000371806p.V166Lc.496G>TSubstitution - Missense
HSPB9ENSG00000197723ENST00000355067p.D52Nc.154G>ASubstitution - Missense
ENST00000361316p.A1301Tc.3901G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.K922Nc.2766G>TSubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.R139Qc.416G>ASubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.A293Dc.878C>ASubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.K683Nc.2049G>TSubstitution - Missense
ENST00000544403p.K683Nc.2049G>TSubstitution - Missense
OR56B1ENSG00000181023ENST00000317121p.V286Vc.858G>ASubstitution - coding silent
OR8H3ENSG00000181761ENST00000313472p.H175Nc.523C>ASubstitution - Missense
ENST00000327733p.M1Vc.1A>GSubstitution - Missense
ENSG00000117600ENST00000370184p.V463Mc.1387G>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.C2618Sc.7853G>CSubstitution - Missense
NTNG2ENSG00000196358ENST00000360670p.P116Hc.347C>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.?c.1181-3C>TUnknown
BAI3ENSG00000135298ENST00000238918p.L604Lc.1812A>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.M324Ic.972G>ASubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.P533Pc.1599G>TSubstitution - coding silent
NLRP8ENSG00000179709ENST00000291971p.V536Mc.1606G>ASubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.A995Tc.2983G>ASubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.G186Cc.556G>TSubstitution - Missense
SLC6A15ENSG00000072041ENST00000266682p.A607Sc.1819G>TSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.A1335Ac.4005C>ASubstitution - coding silent
H2AFJENSG00000246705ENST00000389078p.S2Sc.6C>TSubstitution - coding silent
ENST00000370696p.P279Rc.836C>GSubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.L167Lc.501G>TSubstitution - coding silent
ENSG00000270149ENST00000289779p.R181fs*10c.541delCDeletion - Frameshift
COL17A1ENSG00000065618ENST00000353479p.E1382Kc.4144G>ASubstitution - Missense
AKR1E2ENSG00000165568ENST00000298375p.G225Cc.673G>TSubstitution - Missense
FAM183AENSG00000186973ENST00000335282p.?c.297+9G>AUnknown
CASP12ENSG00000204403ENST00000422698p.K213Nc.639G>CSubstitution - Missense
LACTBENSG00000103642ENST00000261893p.P280Rc.839C>GSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.R489Hc.1466G>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000371037p.P595Pc.1785T>ASubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.S2308Sc.6924G>CSubstitution - coding silent
PTH2RENSG00000144407ENST00000272847p.S7Sc.21G>CSubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.E2994Kc.8980G>ASubstitution - Missense
NEFMENSG00000104722ENST00000221166p.H906Qc.2718C>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.A514Sc.1540G>TSubstitution - Missense
CHMP4BENSG00000101421ENST00000217402p.V153Ac.458T>CSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.G985Ec.2954G>ASubstitution - Missense
FAM19A1ENSG00000183662ENST00000478136p.I89Ic.267A>TSubstitution - coding silent
FRMD4BENSG00000114541ENST00000398540p.?c.1234+9T>AUnknown
SMG6ENSG00000070366ENST00000263073p.K53Rc.158A>GSubstitution - Missense
OR9A4ENSG00000258083ENST00000548136p.V72Vc.216C>ASubstitution - coding silent
CALD1ENSG00000122786ENST00000361675p.A650Ec.1949C>ASubstitution - Missense
HIST1H3BENSG00000124693ENST00000244661p.L71Qc.212T>ASubstitution - Missense
PRKRAENSG00000180228ENST00000325748p.A108Ac.324A>CSubstitution - coding silent
CST1ENSG00000170373ENST00000398402p.V78Fc.232G>TSubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.?c.2494-7C>TUnknown
OTOFENSG00000115155ENST00000339598p.L1077Pc.3230T>CSubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.D855Yc.2563G>TSubstitution - Missense
ENST00000356127p.G21100Ec.63299G>ASubstitution - Missense
NM_003319p.G14605Ec.43814G>ASubstitution - Missense
ENST00000405167p.T1028Tc.3084C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3759Tc.11277C>GSubstitution - coding silent
ZIC1ENSG00000152977ENST00000282928p.A151Ac.453C>ASubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.L614Fc.1842G>TSubstitution - Missense
LPAENSG00000198670ENST00000316300p.R1218Sc.3654G>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.R341Cc.1021C>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.K19Rc.56A>GSubstitution - Missense
MPPED1ENSG00000186732ENST00000538182p.V234Lc.700G>TSubstitution - Missense
CD200R1ENSG00000163606ENST00000308611p.P256Tc.766C>ASubstitution - Missense
TFAP2AENSG00000137203ENST00000319516p.S411Ic.1232G>TSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.K921Nc.2763G>TSubstitution - Missense
PCDHGA9ENSG00000261934ENST00000573521p.K923Nc.2769G>TSubstitution - Missense
ACTR3CENSG00000106526ENST00000252071p.T72Mc.215C>TSubstitution - Missense
KELENSG00000197993ENST00000355265p.P528Hc.1583C>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.V866Dc.2597T>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.?c.1577-10C>GUnknown
PALLDENSG00000129116ENST00000335742p.Q203Rc.608A>GSubstitution - Missense
PACSIN1ENSG00000124507ENST00000244458p.S3Rc.9C>GSubstitution - Missense
ENST00000255326p.S166Cc.496A>TSubstitution - Missense
GZMBENSG00000100453ENST00000382540p.L13Pc.38T>CSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.R178Hc.533G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.G716Vc.2147G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.?c.1181-3C>TUnknown
MPDZENSG00000107186ENST00000319217p.R222Ic.665G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C277Fc.830G>TSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.G988Rc.2962G>ASubstitution - Missense
OR2M4ENSG00000171180ENST00000306687p.M228Ic.684G>TSubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.Q306Hc.918G>CSubstitution - Missense
MYF6ENSG00000111046ENST00000228641p.P74Sc.220C>TSubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.K282Qc.844A>CSubstitution - Missense
CHFRENSG00000072609ENST00000432561p.L575Fc.1725G>TSubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.L217Lc.651G>TSubstitution - coding silent
TCIRG1ENSG00000110719ENST00000265686p.V544Lc.1630G>CSubstitution - Missense
CHKAENSG00000110721ENST00000265689p.I113Vc.337A>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.E1511Kc.4531G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.G632Cc.1894G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000541932p.G632Cc.1894G>TSubstitution - Missense
PPRC1ENSG00000148840ENST00000278070p.D184Yc.550G>TSubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.N717Kc.2151C>ASubstitution - Missense
ENST00000450802_v68p.R317Gc.949A>GSubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.H298Hc.894C>TSubstitution - coding silent
NM_015133.2p.R611Hc.1832G>ASubstitution - Missense
NM_001271.1p.L1507Lc.4521G>TSubstitution - coding silent
SLC6A17ENSG00000197106ENST00000331565p.G140Gc.420G>ASubstitution - coding silent
TYRENSG00000077498ENST00000263321p.D356Vc.1067A>TSubstitution - Missense
CPNE8ENSG00000139117ENST00000331366p.D239Yc.715G>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.A474Gc.1421C>GSubstitution - Missense
SLC38A6ENSG00000139974ENST00000267488p.V124Lc.370G>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000555453p.G782Wc.2344G>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.V242Vc.726G>TSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376717p.A231Ac.693A>CSubstitution - coding silent
ENST00000328843_v70p.T1596Mc.4787C>TSubstitution - Missense
RFX4ENSG00000111783ENST00000229387p.P626fs*>16c.1873delTDeletion - Frameshift
TCTN3ENSG00000119977ENST00000265993p.D43Hc.127G>CSubstitution - Missense
OS9ENSG00000135506ENST00000315970p.S162Sc.486C>TSubstitution - coding silent
MADDENSG00000110514ENST00000311027p.S146Ic.437G>TSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.D748Gc.2243A>GSubstitution - Missense
DCP1BENSG00000151065ENST00000280665p.D192fs*11c.575_577ACA>CCComplex - frameshift
NLRP14ENSG00000158077ENST00000299481p.?c.2123+9G>TUnknown
GZMBENSG00000100453ENST00000216341p.L13Lc.39G>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.G2524Rc.7570G>ASubstitution - Missense
CCDC88BENSG00000168071ENST00000359902p.T556Mc.1667C>TSubstitution - Missense
POU2F3ENSG00000137709ENST00000260264p.P185Lc.554C>TSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.A1111Gc.3332C>GSubstitution - Missense
TOR1AIP1ENSG00000143337ENST00000435319p.?c.610+8A>GUnknown
MDGA2ENSG00000139915ENST00000357362p.A559Dc.1676C>ASubstitution - Missense
DNAAF2ENSG00000165506ENST00000298292p.V595Vc.1785G>ASubstitution - coding silent
ENST00000268613_v61p.T463Tc.1389C>GSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.M564Rc.1691T>GSubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.?c.3692-6T>CUnknown
ENST00000242365_v65p.G770Cc.2308G>TSubstitution - Missense
ADAP1ENSG00000105963ENST00000265846p.?c.389-8C>TUnknown
ENST00000407030p.N74Kc.222C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T991Nc.2972C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1634Pc.4902T>ASubstitution - coding silent
ENST00000405167p.P2256Sc.6766C>TSubstitution - Missense
PDCD6ENSG00000249915ENST00000264933p.G87Dc.260G>ASubstitution - Missense
NOVENSG00000136999ENST00000259526p.G114Wc.340G>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.G1387Vc.4160G>TSubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.K929Nc.2787G>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.Y270*c.810C>ASubstitution - Nonsense
SUN3ENSG00000164744ENST00000395572p.L220Qc.659T>ASubstitution - Missense
WFDC10AENSG00000180305ENST00000372643p.Q61Kc.181C>ASubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.R281Wc.841C>TSubstitution - Missense
PITPNM2ENSG00000090975ENST00000280562p.L300Fc.898C>TSubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.A380Pc.1138G>CSubstitution - Missense
DCP1BENSG00000151065ENST00000397173p.D90fs*11c.269_271ACA>CCComplex - frameshift
IL17RDENSG00000144730ENST00000427856p.G590*c.1768G>TSubstitution - Nonsense
POM121ENSG00000196313ENST00000434423p.I1029Tc.3086T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.R8695Ic.26084G>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000381862p.A49Ac.147C>ASubstitution - coding silent
SLC10A2ENSG00000125255ENST00000245312p.L240Lc.720G>TSubstitution - coding silent
CCDC33ENSG00000140481ENST00000321288p.T688Sc.2062A>TSubstitution - Missense
ENST00000375089p.G612*c.1834G>TSubstitution - Nonsense
ENST00000399269p.S35Lc.104C>TSubstitution - Missense
ENST00000268134p.E1988*c.5962G>TSubstitution - Nonsense
ACANENSG00000157766ENST00000439576p.E1988*c.5962G>TSubstitution - Nonsense
TMC3ENSG00000188869ENST00000359440p.P1077Hc.3230C>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.C227Fc.680G>TSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.L62Mc.184C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.C1827Fc.5480G>TSubstitution - Missense
PXNENSG00000089159ENST00000228307p.P51Pc.153A>CSubstitution - coding silent
CCDC92ENSG00000119242ENST00000238156p.T327Mc.980C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.R1044Rc.3132G>TSubstitution - coding silent
STRIP1ENSG00000143093ENST00000369795p.V179Ac.536T>CSubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.P172Tc.514C>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.P181fs*89c.542delCDeletion - Frameshift
ADCK1ENSG00000063761ENST00000238561p.F477Fc.1431C>TSubstitution - coding silent
CCNKENSG00000090061ENST00000389879p.G104Vc.311G>TSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.E393Kc.1177G>ASubstitution - Missense
TNFRSF9ENSG00000049249ENST00000377507p.D127Yc.379G>TSubstitution - Missense
ARHGAP44ENSG00000006740ENST00000379672p.E249*c.745G>TSubstitution - Nonsense
OR1L1ENSG00000173679ENST00000373686p.P76Qc.227C>ASubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.L102Lc.306C>ASubstitution - coding silent
PMFBP1ENSG00000118557ENST00000355636p.D567Yc.1699G>TSubstitution - Missense
FBXL2ENSG00000153558ENST00000446237p.P147Qc.440C>ASubstitution - Missense
SPAG9ENSG00000008294ENST00000505279p.G6Vc.17G>TSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.R55Cc.163C>TSubstitution - Missense
RCOR3ENSG00000117625ENST00000367005p.S353Fc.1058C>TSubstitution - Missense
SCN3BENSG00000166257ENST00000299333p.K136fs*2c.408_417del10Deletion - Frameshift
NLRP14ENSG00000158077ENST00000299481p.Q562Hc.1686G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000539099p.?c.1437-3T>AUnknown
DNAH3ENSG00000158486ENST00000261383p.R4026Sc.12076C>ASubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.N843Nc.2529C>TSubstitution - coding silent
TYRENSG00000077498ENST00000263321p.A357Sc.1069G>TSubstitution - Missense
PRAMEF11ENSG00000204513ENST00000535591p.V53Ic.157G>ASubstitution - Missense
OR2L5ENSG00000197454ENST00000355281p.V275Fc.823G>TSubstitution - Missense
EGLN3ENSG00000129521ENST00000250457p.M1Ic.3G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.L1869Lc.5607G>TSubstitution - coding silent
UPF3AENSG00000169062ENST00000375299p.?c.521-1G>CUnknown
GOSR2ENSG00000108433ENST00000415811p.Q125Hc.375G>TSubstitution - Missense
NGFRENSG00000064300ENST00000172229p.R360Wc.1078C>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.?c.480-9C>TUnknown
DOCK11ENSG00000147251ENST00000276202p.R1033Cc.3097C>TSubstitution - Missense
KLK10ENSG00000129451ENST00000391805p.R154Rc.460C>ASubstitution - coding silent
FRMD4AENSG00000151474ENST00000264546p.?c.1072+9T>AUnknown
OR13J1ENSG00000168828ENST00000377981p.T74Mc.221C>TSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.R1160Cc.3478C>TSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.N815Ic.2444A>TSubstitution - Missense
UGT2A3ENSG00000135220ENST00000251566p.G390*c.1168G>TSubstitution - Nonsense
GRM7ENSG00000196277ENST00000389335p.G716Vc.2147G>TSubstitution - Missense
C4orf40ENSG00000187533ENST00000344526p.P173Hc.518C>ASubstitution - Missense
ENST00000360191p.V359Fc.1075G>TSubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.L769Fc.2305C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.D289Nc.865G>ASubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.P331Tc.991C>ASubstitution - Missense
CCDC54ENSG00000138483ENST00000261058p.A13Vc.38C>TSubstitution - Missense
ENST00000405167p.D2821Nc.8461G>ASubstitution - Missense
ENST00000405167p.D2757Nc.8269G>ASubstitution - Missense
ENST00000405167p.H989Dc.2965C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1028Tc.3084C>TSubstitution - coding silent
CHRNA6ENSG00000147434ENST00000276410p.Y232Cc.695A>GSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000361686p.P81Lc.242C>TSubstitution - Missense
LRRN1ENSG00000175928ENST00000319331p.Q409Kc.1225C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.R8695Ic.26084G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S406Yc.1217C>ASubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.V15Lc.43G>TSubstitution - Missense
ENST00000358511_v70p.S2105Sc.6315C>TSubstitution - coding silent
ARFGAP3ENSG00000242247ENST00000263245p.?c.477+7A>TUnknown
ZNF142ENSG00000115568ENST00000411696p.H1000Rc.2999A>GSubstitution - Missense
CPNE4ENSG00000196353ENST00000512055p.S99Rc.295A>CSubstitution - Missense
BAXENSG00000087088ENST00000293288p.P130Pc.390G>ASubstitution - coding silent
FREM3ENSG00000183090ENST00000329798p.P2116Qc.6347C>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.W211Cc.633G>CSubstitution - Missense
PLEKHH3ENSG00000068137ENST00000293349p.H708Rc.2123A>GSubstitution - Missense
FAM46AENSG00000112773ENST00000320172p.R107Rc.321C>TSubstitution - coding silent
ENST00000319379p.L1320Pc.3959T>CSubstitution - Missense
ENST00000316490_v65p.E2934Vc.8801A>TSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.V598Fc.1792G>TSubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.A737Sc.2209G>TSubstitution - Missense
KITENSG00000157404ENST00000288135p.L764Lc.2290C>TSubstitution - coding silent
ZNF335ENSG00000198026ENST00000322927p.?c.814+9G>AUnknown
TCTN3ENSG00000119977ENST00000371217p.D61Hc.181G>CSubstitution - Missense
EXOC6ENSG00000138190ENST00000371547p.Q704Lc.2111A>TSubstitution - Missense
ATP13A3ENSG00000133657ENST00000256031p.V641Vc.1923G>TSubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000399667p.E38Kc.112G>ASubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.V66Fc.196G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.G94Vc.281G>TSubstitution - Missense
METTL24ENSG00000053328ENST00000338882p.H226Qc.678C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R846Lc.2537G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.R846Lc.2537G>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000437304p.P536Pc.1608A>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000393528p.P378Pc.1134A>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.V347Lc.1039G>TSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.V1092Fc.3274G>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.A2966Ac.8898A>CSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.Q440Hc.1320G>TSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.K925Nc.2775G>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.K918Nc.2754G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.?c.1181-3C>TUnknown
EPHA1ENSG00000146904ENST00000275815p.?c.432+4C>AUnknown
FBLN1ENSG00000077942ENST00000348697p.I234Lc.700A>CSubstitution - Missense
CEP68ENSG00000011523ENST00000537589p.V239Lc.715G>TSubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.A582Ac.1746C>TSubstitution - coding silent
PCDHGC4ENSG00000242419ENST00000306593p.R569Lc.1706G>TSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.L138Mc.412C>ASubstitution - Missense
NOL8ENSG00000198000ENST00000442668p.S843Sc.2529T>ASubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.R1065Hc.3194G>ASubstitution - Missense
RBMS2ENSG00000076067ENST00000262031p.L63Lc.187T>CSubstitution - coding silent
OR6C6ENSG00000188324ENST00000358433p.S228Cc.683C>GSubstitution - Missense
MEF2DENSG00000116604ENST00000340875p.T110Mc.329C>TSubstitution - Missense
LARP4ENSG00000161813ENST00000398473p.N600Dc.1798A>GSubstitution - Missense
OR5AN1ENSG00000176495ENST00000313940p.L46Vc.136C>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D4130fs*32c.12390delCDeletion - Frameshift
FAM178AENSG00000119906ENST00000370271p.P44Lc.131C>TSubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.C376*c.1128C>ASubstitution - Nonsense
CCDC88BENSG00000168071ENST00000356786p.H1451Hc.4353C>TSubstitution - coding silent
IQCKENSG00000174628ENST00000320394p.R198Lc.593G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.L2068Lc.6204G>TSubstitution - coding silent
PARD3BENSG00000116117ENST00000351153p.N1130Kc.3390C>ASubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.A448Gc.1343C>GSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E260Kc.778G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.V1840Vc.5520G>ASubstitution - coding silent
CALCRENSG00000004948ENST00000359558p.P473Ac.1417C>GSubstitution - Missense
FAM120BENSG00000112584ENST00000476287p.W58*c.173G>ASubstitution - Nonsense
DYMENSG00000141627ENST00000269445p.S345Tc.1033T>ASubstitution - Missense
CRISPLD1ENSG00000121005ENST00000262207p.I444Vc.1330A>GSubstitution - Missense
MINAENSG00000170854ENST00000360258p.P177Pc.531G>TSubstitution - coding silent
ENST00000405167p.T1227Ic.3680C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1126Tc.3378T>CSubstitution - coding silent
FBXL2ENSG00000153558ENST00000484457p.P406Qc.1217C>ASubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356860p.S975Gc.2923A>GSubstitution - Missense
FBLN1ENSG00000077942ENST00000442170p.I234Lc.700A>CSubstitution - Missense
COL6A5ENSG00000172752ENST00000265379p.K1980Rc.5939A>GSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.L1001Fc.3001C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.T993Tc.2979G>ASubstitution - coding silent
ZC3H4ENSG00000130749ENST00000253048p.M442Vc.1324A>GSubstitution - Missense
ZNF66ENSG00000160229ENST00000425625p.G90fs*26c.265_266insTInsertion - Frameshift
PLA1AENSG00000144837ENST00000273371p.V232Vc.696G>TSubstitution - coding silent
TSHZ1ENSG00000179981ENST00000322038p.A341Ac.1023G>CSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.V55Lc.163G>TSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.K925Nc.2775G>TSubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.K923Nc.2769G>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.K922Nc.2766G>TSubstitution - Missense
ZNF568ENSG00000198453ENST00000455427p.C560Gc.1678T>GSubstitution - Missense
ZNF790ENSG00000197863ENST00000356725p.G73Rc.217G>CSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.N338Nc.1014C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.L768Fc.2304G>TSubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.?c.1230+8C>TUnknown
AHCYL2ENSG00000158467ENST00000325006p.E205Gc.614A>GSubstitution - Missense
FEZF1ENSG00000128610ENST00000442488p.T404Tc.1212G>TSubstitution - coding silent
ADAMTS9ENSG00000163638ENST00000498707p.D1442Yc.4324G>TSubstitution - Missense
CDH2ENSG00000170558ENST00000269141p.A464Sc.1390G>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.A49Ac.147C>ASubstitution - coding silent
PPP2R1AENSG00000105568ENST00000322088p.P91Tc.271C>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.D324Yc.970G>TSubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.V52Lc.154G>CSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.E501*c.1501G>TSubstitution - Nonsense
SLC22A13ENSG00000172940ENST00000311856p.G400Cc.1198G>TSubstitution - Missense
NM_033267.2p.L402Lc.1206G>CSubstitution - coding silent
GYG1ENSG00000163754ENST00000345003p.C89Fc.266G>TSubstitution - Missense
RELNENSG00000189056ENST00000343529p.V1862Vc.5586C>ASubstitution - coding silent
FBLN1ENSG00000077942ENST00000262722p.R562Lc.1685G>TSubstitution - Missense
ENST00000265050p.C22Yc.65G>ASubstitution - Missense
OPHN1ENSG00000079482ENST00000355520p.P740Pc.2220C>TSubstitution - coding silent
BTLAENSG00000186265ENST00000334529p.Q43Hc.129A>TSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.V1053Fc.3157G>TSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.E973*c.2917G>TSubstitution - Nonsense
PCDHGA10ENSG00000253846ENST00000398610p.K927Nc.2781G>TSubstitution - Missense
ZNF284ENSG00000186026ENST00000421176p.R316fs*95c.947delGDeletion - Frameshift
PLIN4ENSG00000167676ENST00000301286p.V639Vc.1917C>GSubstitution - coding silent
ISL1ENSG00000016082ENST00000230658p.P339Lc.1016C>TSubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.A296Ac.888C>TSubstitution - coding silent
ENSG00000258417ENST00000262283p.A610Ac.1830T>ASubstitution - coding silent
TNFSF8ENSG00000106952ENST00000223795p.M20Tc.59T>CSubstitution - Missense
LRRC55ENSG00000183908ENST00000497933p.L128Hc.383T>ASubstitution - Missense
OR8H2ENSG00000181767ENST00000313503p.V284Gc.851T>GSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.?c.387+6C>TUnknown
NLGN4XENSG00000146938ENST00000381093p.Q247Kc.739C>ASubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.R147Sc.441A>CSubstitution - Missense
CCDC92ENSG00000119242ENST00000238156p.F224Fc.672C>TSubstitution - coding silent
ADH7ENSG00000196344ENST00000209665p.E160Kc.478G>ASubstitution - Missense
ADH7ENSG00000196344ENST00000476959p.E168Kc.502G>ASubstitution - Missense
INHBCENSG00000175189ENST00000309668p.S38Sc.114C>TSubstitution - coding silent
JRKLENSG00000183340ENST00000332349p.L84Lc.252G>ASubstitution - coding silent
OTOGENSG00000188162ENST00000399397p.D380Dc.1140C>TSubstitution - coding silent
ENST00000417177p.C1834Fc.5501G>TSubstitution - Missense
ARMC3ENSG00000165309ENST00000298032p.A465Vc.1394C>TSubstitution - Missense
OR4N4ENSG00000183706ENST00000328795p.R122Sc.364C>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000440491p.T605Mc.1814C>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.?c.480-9C>TUnknown
SNTG1ENSG00000147481ENST00000518864p.L405Lc.1215A>CSubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000307431p.M1097Ic.3291G>TSubstitution - Missense
DNAH2ENSG00000183914ENST00000570791p.E820Dc.2460G>CSubstitution - Missense
LIM2ENSG00000105370ENST00000221973p.V14Vc.42G>ASubstitution - coding silent
NUTM2FENSG00000130950ENST00000253262p.Q379*c.1135C>TSubstitution - Nonsense
ZNFX1ENSG00000124201ENST00000455070p.A318Sc.952G>TSubstitution - Missense
MTERFD1ENSG00000156469ENST00000287025p.?c.678-1G>TUnknown
MYOM2ENSG00000036448ENST00000262113p.K1270Ec.3808A>GSubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.V1053Lc.3157G>CSubstitution - Missense
NRSN1ENSG00000152954ENST00000378491p.V138Mc.412G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.70085-6C>TUnknown
PYGBENSG00000100994ENST00000216962p.K725Ec.2173A>GSubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.C800Wc.2400C>GSubstitution - Missense
ENST00000405167p.P2258Lc.6773C>TSubstitution - Missense
ENST00000405167p.V2969Ic.8905G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3790Ac.11368A>GSubstitution - Missense
ENST00000405167p.D3789Ec.11367C>GSubstitution - Missense
CXorf36ENSG00000147113ENST00000398000p.L172Vc.514C>GSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409088p.Y91Yc.273T>CSubstitution - coding silent
NM_017886p.L453Lc.1359A>GSubstitution - coding silent
RSRC1ENSG00000174891ENST00000295930p.?c.653-1G>AUnknown
SYNE1ENSG00000131018ENST00000423061p.S413Yc.1238C>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.S647_A648insRSRSc.1920_1921ins12Insertion - In frame
ENST00000321016_v61p.T680Mc.2039C>TSubstitution - Missense
CHRM1ENSG00000168539ENST00000306960p.R443Lc.1328G>TSubstitution - Missense
VPS33AENSG00000139719ENST00000267199p.K195Kc.585A>GSubstitution - coding silent
RLFENSG00000117000ENST00000372771p.E1838*c.5512G>TSubstitution - Nonsense
IGSF22ENSG00000179057ENST00000319338p.?c.1799-3C>AUnknown
CACNA1SENSG00000081248ENST00000362061p.S243Sc.729G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.Y190Yc.570C>TSubstitution - coding silent
IFI44ENSG00000137965ENST00000370747p.D117Ec.351T>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.R678Wc.2032C>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.N407Yc.1219A>TSubstitution - Missense
CLEC11AENSG00000105472ENST00000250340p.R41Rc.123G>CSubstitution - coding silent
FBP1ENSG00000165140ENST00000375326p.G320Vc.959G>TSubstitution - Missense
ELP3ENSG00000134014ENST00000256398p.V162Vc.486G>TSubstitution - coding silent
CEP41ENSG00000106477ENST00000223208p.A159Sc.475G>TSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.A1065Gc.3194C>GSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.G630Gc.1890G>ASubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.E776*c.2326G>TSubstitution - Nonsense
KRT20ENSG00000171431ENST00000167588p.E416Kc.1246G>ASubstitution - Missense
NM_003319p.E15813Dc.47439A>CSubstitution - Missense
CCT8L2ENSG00000198445ENST00000359963p.L267Lc.801A>TSubstitution - coding silent
CPXM1ENSG00000088882ENST00000380605p.K342Ec.1024A>GSubstitution - Missense
ENST00000354247p.?c.1219-2A>TUnknown
SRPXENSG00000101955ENST00000378533p.G155Vc.464G>TSubstitution - Missense
ZDHHC19ENSG00000163958ENST00000296326p.A47Sc.139G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1021Dc.3061C>GSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.G839Vc.2516G>TSubstitution - Missense
NM_014614.1p.Q1530Lc.4589A>TSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.I764Tc.2291T>CSubstitution - Missense
CEP68ENSG00000011523ENST00000377990p.V627Lc.1879G>TSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.R925Qc.2774G>ASubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.K39Nc.117G>TSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.R495Rc.1483C>ASubstitution - coding silent
POM121L12ENSG00000221900ENST00000408890p.N209Kc.627C>ASubstitution - Missense
WIPI2ENSG00000157954ENST00000288828p.?c.576+1G>AUnknown
FER1L6ENSG00000214814ENST00000399018p.?c.3966+4G>TUnknown
NM_024114.2p.W148Lc.443G>TSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000409087p.P81Lc.242C>TSubstitution - Missense
C8orf22ENSG00000168333ENST00000303202p.M1Kc.2T>ASubstitution - Missense
SUN3ENSG00000164744ENST00000453192p.L208Qc.623T>ASubstitution - Missense
DCPSENSG00000110063ENST00000263579p.R224Hc.671G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E9319Dc.27957G>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.N236Nc.708C>TSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.I1019Vc.3055A>GSubstitution - Missense
ENST00000327087_v68p.K282Qc.844A>CSubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.L217Lc.651G>TSubstitution - coding silent
OR10A2ENSG00000170790ENST00000307322p.S135Fc.404C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000250373p.G794Wc.2380G>TSubstitution - Missense
GXYLT1ENSG00000151233ENST00000280876p.M248Vc.742A>GSubstitution - Missense
PCED1BENSG00000179715ENST00000546455p.P382Hc.1145C>ASubstitution - Missense
ENST00000310358p.K256Kc.768A>GSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.P297Pc.891G>ASubstitution - coding silent
IGSF22ENSG00000179057ENST00000513874p.?c.1799-3C>AUnknown
CACNA1EENSG00000198216ENST00000367573p.R1044Rc.3132G>TSubstitution - coding silent
ENST00000257034p.V21Fc.61G>TSubstitution - Missense
PCSK6ENSG00000140479ENST00000348070p.Y364*c.1092C>ASubstitution - Nonsense
STK38LENSG00000211455ENST00000389032p.T184Sc.550A>TSubstitution - Missense
CA6ENSG00000131686ENST00000377443p.T220Tc.660C>TSubstitution - coding silent
SPEF2ENSG00000152582ENST00000282469p.I214Vc.640A>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.A968Sc.2902G>TSubstitution - Missense
NUTM2FENSG00000130950ENST00000341207p.?c.743-10C>TUnknown
CEP41ENSG00000106477ENST00000489512p.?c.98-4A>GUnknown
FAM205AENSG00000205108ENST00000378788p.A1065Gc.3194C>GSubstitution - Missense
ENST00000339267p.R472Cc.1414C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000537465p.D717Yc.2149G>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.R342Hc.1025G>ASubstitution - Missense
OR2M5ENSG00000162727ENST00000366476p.F209Fc.627T>CSubstitution - coding silent
FOXD4L1ENSG00000184492ENST00000306507p.A253Pc.757G>CSubstitution - Missense
PIK3R1ENSG00000145675ENST00000336483p.N294Dc.880A>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.M2886Vc.8656A>GSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.A1224Sc.3670G>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.P1728Tc.5182C>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.R1392Qc.4175G>ASubstitution - Missense
TNFRSF1AENSG00000067182ENST00000162749p.R410Lc.1229G>TSubstitution - Missense
CTSHENSG00000103811ENST00000220166p.Q182Kc.544C>ASubstitution - Missense
RNASE9ENSG00000188655ENST00000338904p.Y155Yc.465C>TSubstitution - coding silent
PRICKLE1ENSG00000139174ENST00000345127p.G732Vc.2195G>TSubstitution - Missense
CUTCENSG00000119929ENST00000370476p.G201Ac.602G>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000395251p.A3Vc.8C>TSubstitution - Missense
FAM131CENSG00000185519ENST00000375662p.R74Hc.221G>ASubstitution - Missense
KCNC1ENSG00000129159ENST00000379472p.L155Lc.465G>TSubstitution - coding silent
ENSG00000214670ENST00000338772p.G93Cc.277G>TSubstitution - Missense
ENST00000429306p.V382Vc.1146C>GSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.C313Fc.938G>TSubstitution - Missense
SHCBP1LENSG00000157060ENST00000367547p.P165Tc.493C>ASubstitution - Missense
OR2M7ENSG00000177186ENST00000317965p.G233Gc.699A>TSubstitution - coding silent
HOXB1ENSG00000120094ENST00000239174p.L160Pc.479T>CSubstitution - Missense
IRS4ENSG00000133124ENST00000372129p.P1216Qc.3647C>ASubstitution - Missense
BMP1ENSG00000168487ENST00000397814p.G596Vc.1787G>TSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.R355Qc.1064G>ASubstitution - Missense
PROS1ENSG00000184500ENST00000394236p.P76Tc.226C>ASubstitution - Missense
COQ9ENSG00000088682ENST00000262507p.R27Cc.79C>TSubstitution - Missense
TMEM130ENSG00000166448ENST00000339375p.A317Dc.950C>ASubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.T732Tc.2196G>CSubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.P579Lc.1736C>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.?c.3596-6T>CUnknown
DNMT3AENSG00000119772ENST00000321117p.R96Lc.287G>TSubstitution - Missense
ENST00000405167p.T1126Tc.3378T>CSubstitution - coding silent
ENST00000405167p.D3453Ec.10359C>GSubstitution - Missense
ENST00000405167p.T1572Tc.4716C>TSubstitution - coding silent
ENST00000405167p.L1926Ic.5776C>ASubstitution - Missense
BSGENSG00000172270ENST00000333511p.P184Pc.552C>TSubstitution - coding silent
ZIM3ENSG00000141946ENST00000269834p.Q252Hc.756G>TSubstitution - Missense
MARCH6ENSG00000145495ENST00000274140p.?c.1691+10G>TUnknown
SYNE1ENSG00000131018ENST00000265368p.S406Yc.1217C>ASubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.T3024delTc.9064_9066delACADeletion - In frame
MUC12ENSG00000205277ENST00000536621p.S2987Sc.8961C>TSubstitution - coding silent
ZNF66ENSG00000160229ENST00000425625p.G90fs*26c.267_268insTInsertion - Frameshift
ACAD11ENSG00000240303ENST00000264990p.F437Fc.1311T>CSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.S1227Sc.3681C>GSubstitution - coding silent
DIAPH2ENSG00000147202ENST00000324765p.?c.587+3A>GUnknown
DHX58ENSG00000108771ENST00000251642p.V60Vc.180G>TSubstitution - coding silent
ZNF585AENSG00000196967ENST00000356958p.Q373Hc.1119G>TSubstitution - Missense
EGFRENSG00000146648ENST00000344576p.N338Nc.1014C>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.A1332Sc.3994G>TSubstitution - Missense
PSMG4ENSG00000180822ENST00000324987p.F51Yc.152T>ASubstitution - Missense
KLHL31ENSG00000124743ENST00000370905p.M278Ic.834G>ASubstitution - Missense
BRSK2ENSG00000174672ENST00000308230p.P462Pc.1386C>ASubstitution - coding silent
NFATC4ENSG00000100968ENST00000556279p.G826Wc.2476G>TSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.G612*c.1834G>TSubstitution - Nonsense
SNRNP200ENSG00000144028ENST00000349783p.D130Vc.389A>TSubstitution - Missense
CXorf40BENSG00000197021ENST00000462691p.R26Lc.77G>TSubstitution - Missense
SCUBE3ENSG00000146197ENST00000394681p.C221Sc.661T>ASubstitution - Missense
DGKBENSG00000136267ENST00000258767p.?c.711+1G>CUnknown
KIDINS220ENSG00000134313ENST00000256707p.M1418Ic.4254G>TSubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.P274Pc.822G>ASubstitution - coding silent
SCELENSG00000136155ENST00000349847p.M16Ic.48G>CSubstitution - Missense
MGMTENSG00000170430ENST00000306010p.Q17Hc.51G>TSubstitution - Missense
NLRP13ENSG00000173572ENST00000342929p.D1021Yc.3061G>TSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.G103Rc.307G>ASubstitution - Missense
LEKR1ENSG00000197980ENST00000356539p.P338Pc.1014C>TSubstitution - coding silent
ENST00000314395p.S312Ic.935G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R8743Ic.26228G>TSubstitution - Missense
UGT1A4ENSG00000244474ENST00000373409p.V500Ec.1499T>ASubstitution - Missense
UGT1A3ENSG00000243135ENST00000482026p.V500Ec.1499T>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.?c.474-4C>GUnknown
FBLN1ENSG00000077942ENST00000442170p.R562Lc.1685G>TSubstitution - Missense
TLE4ENSG00000106829ENST00000376520p.G333Vc.998G>TSubstitution - Missense
FAXDC2ENSG00000170271ENST00000326080p.S33Pc.97T>CSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.?c.711+1G>CUnknown
PTPRN2ENSG00000155093ENST00000404321p.S398Cc.1192A>TSubstitution - Missense
NM_144685p.S424Sc.1272C>TSubstitution - coding silent
ENST00000373135_v70p.R269Cc.805C>TSubstitution - Missense
NM_003829.1p.R222Ic.665G>TSubstitution - Missense
PPP3CBENSG00000107758ENST00000394822p.I305Vc.913A>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.R1602Sc.4806G>TSubstitution - Missense
GDPD4ENSG00000178795ENST00000376217p.Y26*c.78C>ASubstitution - Nonsense
PLCXD2ENSG00000240891ENST00000477665p.W234*c.701G>ASubstitution - Nonsense
NFATC2ENSG00000101096ENST00000371564p.V493Ac.1478T>CSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.E184Kc.550G>ASubstitution - Missense
CAPN14ENSG00000214711ENST00000444918p.R136Lc.407G>TSubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.?c.607-1G>TUnknown
SMC2ENSG00000136824ENST00000303219p.G94Vc.281G>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.I418Vc.1252A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.E1948Qc.5842G>CSubstitution - Missense
MYOD1ENSG00000129152ENST00000250003p.R155Lc.464G>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.?c.981-5C>TUnknown
NM_007170p.L424Mc.1270C>ASubstitution - Missense
ENST00000397697p.K816Kc.2448G>ASubstitution - coding silent
LRGUKENSG00000155530ENST00000285928p.V532Ec.1595T>ASubstitution - Missense
SCINENSG00000006747ENST00000297029p.G114Cc.340G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.E85*c.253G>TSubstitution - Nonsense
OTOFENSG00000115155ENST00000272371p.L1844Pc.5531T>CSubstitution - Missense
RFPL3ENSG00000128276ENST00000249007p.Q15Hc.45A>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.G1026Rc.3076G>CSubstitution - Missense
JPH3ENSG00000154118ENST00000284262p.G141Cc.421G>TSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.R2489Pc.7466G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2256Sc.6766C>TSubstitution - Missense
GADL1ENSG00000144644ENST00000282538p.V346Lc.1036G>TSubstitution - Missense
CDH11ENSG00000140937ENST00000268603p.D85Vc.254A>TSubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.Q1644Lc.4931A>TSubstitution - Missense
KBTBD12ENSG00000187715ENST00000405109p.V432Ac.1295T>CSubstitution - Missense
IL4RENSG00000077238ENST00000395762p.G562fs*64c.1683_1684insTInsertion - Frameshift
ITPR1ENSG00000150995ENST00000456211p.?c.1842-6G>TUnknown
PLCXD2ENSG00000240891ENST00000393934p.W234*c.701G>ASubstitution - Nonsense
SORBS2ENSG00000154556ENST00000418609p.P189Pc.567A>TSubstitution - coding silent
ZNF569ENSG00000196437ENST00000316950p.N385Sc.1154A>GSubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.K920Nc.2760G>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.K922Nc.2766G>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.V347Lc.1039G>TSubstitution - Missense
ACTBENSG00000075624ENST00000331789p.E226Dc.678G>CSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.E670*c.2008G>TSubstitution - Nonsense
PLIN4ENSG00000167676ENST00000301286p.G857Sc.2569G>ASubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.?c.155+10G>TUnknown
SPOCK3ENSG00000196104ENST00000357545p.P131Pc.393C>ASubstitution - coding silent
SNX18ENSG00000178996ENST00000326277p.R556Sc.1668G>CSubstitution - Missense
TJAP1ENSG00000137221ENST00000372445p.S123Nc.368G>ASubstitution - Missense
LINSENSG00000140471ENST00000561308p.E225Ec.675A>GSubstitution - coding silent
CELF6ENSG00000140488ENST00000395258p.V261Vc.783G>ASubstitution - coding silent
SPOCK3ENSG00000196104ENST00000357154p.Q358Hc.1074G>CSubstitution - Missense
DRC1ENSG00000157856ENST00000439066p.T138Tc.414G>CSubstitution - coding silent
MED12LENSG00000144893ENST00000309237p.E512Kc.1534G>ASubstitution - Missense
PIGFENSG00000151665ENST00000306465p.V57Lc.169G>CSubstitution - Missense
PLCH1ENSG00000114805ENST00000494598p.R341Cc.1021C>TSubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.G716Vc.2147G>TSubstitution - Missense
ABHD14BENSG00000114779ENST00000315877p.S109Lc.326C>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000421836p.Q307Hc.921G>CSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357154p.P134Pc.402C>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.?c.3295+4_3295+5ins15Unknown
KRTAP9-2ENSG00000239886ENST00000377723p.T85Nc.254C>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.R995Rc.2985G>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.V934Dc.2801T>ASubstitution - Missense
NPHP3ENSG00000113971ENST00000343113p.A22Ac.66G>TSubstitution - coding silent
TMEM143ENSG00000161558ENST00000541566p.R250Rc.750C>TSubstitution - coding silent
PCDHAC1ENSG00000248383ENST00000409700p.L70Lc.210A>GSubstitution - coding silent
SLC22A5ENSG00000197375ENST00000435065p.Q110Lc.329A>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.G1398Vc.4193G>TSubstitution - Missense
NKAIN2ENSG00000188580ENST00000368416p.P113Qc.338C>ASubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.W81*c.242G>ASubstitution - Nonsense
SLC17A2ENSG00000112337ENST00000377850p.I249Ic.747C>ASubstitution - coding silent
AHCYL2ENSG00000158467ENST00000531335p.E124Gc.371A>GSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.A448Gc.1343C>GSubstitution - Missense
FOXP2ENSG00000128573ENST00000403559p.L640Fc.1920G>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.D961Ec.2883C>GSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.S987Gc.2959A>GSubstitution - Missense
TMEM130ENSG00000166448ENST00000416379p.A317Dc.950C>ASubstitution - Missense
MUSKENSG00000030304ENST00000189978p.?c.79+6T>AUnknown
TEX10ENSG00000136891ENST00000535814p.G348Wc.1042G>TSubstitution - Missense
NTNG2ENSG00000196358ENST00000372179p.P116Hc.347C>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.I269Lc.805A>CSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.P126Pc.378T>ASubstitution - coding silent
RFX3ENSG00000080298ENST00000420720p.?c.98+9A>GUnknown
RFX3ENSG00000080298ENST00000442560p.?c.98+9A>GUnknown
CNKSR2ENSG00000149970ENST00000279451p.G839Vc.2516G>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.R205Sc.615A>CSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.?c.587+3A>GUnknown
HAUS5ENSG00000249115ENST00000203166p.R332Rc.996C>TSubstitution - coding silent
PIK3R1ENSG00000145675ENST00000320694p.N264Dc.790A>GSubstitution - Missense
ANAPC7ENSG00000196510ENST00000455511p.L149Lc.447A>GSubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.?c.2500-5C>TUnknown
FCRL2ENSG00000132704ENST00000469986p.L63Vc.187C>GSubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.R475Pc.1424G>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.C227Fc.680G>TSubstitution - Missense
FOXG1ENSG00000176165ENST00000382535p.P198Pc.594C>GSubstitution - coding silent
ADAM12ENSG00000148848ENST00000368679p.?c.1422+7C>TUnknown
MUC6ENSG00000184956ENST00000421673p.G1677Gc.5031G>ASubstitution - coding silent
PAMR1ENSG00000149090ENST00000278360p.A520Dc.1559C>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.P3902Hc.11705C>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.K125Nc.375G>TSubstitution - Missense
PRAMEF11ENSG00000204513ENST00000535591p.K400Nc.1200G>CSubstitution - Missense
PITPNM2ENSG00000090975ENST00000320201p.L300Fc.898C>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000426342p.A559Dc.1676C>ASubstitution - Missense
C14orf183ENSG00000168260ENST00000305273p.G102Gc.306G>ASubstitution - coding silent
LRRK1ENSG00000154237ENST00000388948p.?c.990-5C>TUnknown
KANK4ENSG00000132854ENST00000371153p.G354Gc.1062A>GSubstitution - coding silent
GBP6ENSG00000183347ENST00000370456p.A601Tc.1801G>ASubstitution - Missense
MARCH2ENSG00000099785ENST00000381035p.S126Sc.378C>TSubstitution - coding silent
ERI1ENSG00000104626ENST00000250263p.Q39fs*3c.113_114delCTDeletion - Frameshift
CNTN3ENSG00000113805ENST00000263665p.V1009Ac.3026T>CSubstitution - Missense
TAC1ENSG00000006128ENST00000319273p.R127Kc.380G>ASubstitution - Missense
NM_014916p.S119Sc.357G>TSubstitution - coding silent
PRSS36ENSG00000178226ENST00000268281p.P331Qc.992C>ASubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.V247Lc.739G>TSubstitution - Missense
ENST00000405167p.T991Nc.2972C>ASubstitution - Missense
ENST00000405167p.P1634Pc.4902T>ASubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.H835Hc.2505C>TSubstitution - coding silent
XM_070277.6p.A372Ac.1116T>ASubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.P956Pc.2868C>ASubstitution - coding silent
GAPVD1ENSG00000165219ENST00000394105p.L956Vc.2866C>GSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.L344Lc.1032G>ASubstitution - coding silent
SLC25A25ENSG00000148339ENST00000432073p.L330Lc.990G>ASubstitution - coding silent
SLC25A25ENSG00000148339ENST00000373064p.L310Lc.930G>ASubstitution - coding silent
MPDZENSG00000107186ENST00000541718p.R222Ic.665G>TSubstitution - Missense
CRATENSG00000095321ENST00000318080p.E246Ec.738G>ASubstitution - coding silent
ABCC5ENSG00000114770ENST00000334444p.R1228Lc.3683G>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.A1216Ec.3647C>ASubstitution - Missense
ANXA10ENSG00000109511ENST00000359299p.R52Wc.154A>TSubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.V416Vc.1248A>GSubstitution - coding silent
DDX60LENSG00000181381ENST00000260184p.?c.607-1G>TUnknown
PALLDENSG00000129116ENST00000261509p.P164Hc.491C>ASubstitution - Missense
PALLDENSG00000129116ENST00000261509p.Q585Rc.1754A>GSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.I1298Ic.3894A>CSubstitution - coding silent
NNTENSG00000112992ENST00000264663p.?c.382-6C>TUnknown
NNTENSG00000112992ENST00000264663p.A191Ac.573G>ASubstitution - coding silent
GHRENSG00000112964ENST00000230882p.G504fs*57c.1509delGDeletion - Frameshift
OXCT1ENSG00000083720ENST00000196371p.G424fs*6c.1271delGDeletion - Frameshift
ADAMTS16ENSG00000145536ENST00000274181p.A1174Ac.3522C>ASubstitution - coding silent
VARSENSG00000204394ENST00000375663p.?c.973-9C>TUnknown
SCUBE3ENSG00000146197ENST00000274938p.C221Sc.661T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S406Yc.1217C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S413Yc.1238C>ASubstitution - Missense
FAM178AENSG00000119906ENST00000370269p.P44Lc.131C>TSubstitution - Missense
ARMC3ENSG00000165309ENST00000409049p.A465Vc.1394C>TSubstitution - Missense
GLB1L3ENSG00000166105ENST00000389887p.V119Lc.355G>CSubstitution - Missense
GLB1L3ENSG00000166105ENST00000389887p.H128Lc.383A>TSubstitution - Missense
ENST00000314689p.Y131*c.393T>GSubstitution - Nonsense
TRIM48ENSG00000150244ENST00000417545p.W164Lc.491G>TSubstitution - Missense
OR51Q1ENSG00000167360ENST00000300778p.L68Lc.204G>TSubstitution - coding silent
ENST00000314657p.M35Ic.105G>ASubstitution - Missense
UBQLN3ENSG00000175520ENST00000311659p.Q320Hc.960G>TSubstitution - Missense
OR8K5ENSG00000181752ENST00000313447p.L43Qc.128T>ASubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.M59Ic.177G>TSubstitution - Missense
OR1S2ENSG00000197887ENST00000302592p.G255Vc.764G>TSubstitution - Missense
OR1S2ENSG00000197887ENST00000302592p.P223Pc.669C>ASubstitution - coding silent
ACAD10ENSG00000111271ENST00000455480p.L763Pc.2288T>CSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.?c.2451+1G>TUnknown
ATP5G2ENSG00000135390ENST00000394349p.P90Pc.270G>ASubstitution - coding silent
KANSL2ENSG00000139620ENST00000357861p.L22Lc.66G>TSubstitution - coding silent
NELL2ENSG00000184613ENST00000395487p.C325*c.975C>ASubstitution - Nonsense
MON2ENSG00000061987ENST00000280379p.L1462Pc.4385T>CSubstitution - Missense
MMP19ENSG00000123342ENST00000394182p.R189Pc.566G>CSubstitution - Missense
DGKHENSG00000102780ENST00000379274p.L1026Mc.3076C>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000281815p.N129Nc.387C>TSubstitution - coding silent
DEDDENSG00000158796ENST00000392188p.E57Ec.171G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367567p.R651Rc.1953G>TSubstitution - coding silent
VWA5B1ENSG00000158816ENST00000289825p.G329*c.985G>TSubstitution - Nonsense
NRD1ENSG00000078618ENST00000544028p.I595Tc.1784T>CSubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.P626Pc.1878T>ASubstitution - coding silent
GZMBENSG00000100453ENST00000382540p.L13Lc.39G>TSubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000399667p.R37Rc.111G>ASubstitution - coding silent
UBE2ZENSG00000159202ENST00000360943p.R305Rc.915G>TSubstitution - coding silent
GOSR2ENSG00000108433ENST00000393456p.Q125Hc.375G>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.A386Ac.1158G>CSubstitution - coding silent
SLC13A3ENSG00000158296ENST00000372121p.G243Ac.728G>CSubstitution - Missense
SLC13A3ENSG00000158296ENST00000372121p.?c.728-1G>TUnknown
ENTPD6ENSG00000197586ENST00000433259p.G97Rc.289G>CSubstitution - Missense
FBLN1ENSG00000077942ENST00000348697p.R562Lc.1685G>TSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.G804*c.2410G>TSubstitution - Nonsense
ABCA12ENSG00000144452ENST00000389661p.T2167Tc.6501T>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000416524p.V226Lc.676G>TSubstitution - Missense
SLC6A8ENSG00000130821ENST00000253122p.P209Hc.626C>ASubstitution - Missense
SLC6A8ENSG00000130821ENST00000429147p.S25Sc.75C>ASubstitution - coding silent
PCDHAC1ENSG00000248383ENST00000253807p.L70Lc.210A>GSubstitution - coding silent
ARSIENSG00000183876ENST00000328668p.Y252*c.756C>ASubstitution - Nonsense
ENST00000377643p.P121Lc.362C>TSubstitution - Missense
ZSCAN23ENSG00000187987ENST00000289788p.G214Vc.641G>TSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R185Sc.555G>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.G306Cc.916G>TSubstitution - Missense
FOXP2ENSG00000128573ENST00000408937p.L648Fc.1944G>TSubstitution - Missense
PDIA4ENSG00000155660ENST00000286091p.R370Qc.1109G>ASubstitution - Missense
NOBOXENSG00000106410ENST00000223140p.R276Rc.826C>ASubstitution - coding silent
GIMAP6ENSG00000133561ENST00000328902p.R178Lc.533G>TSubstitution - Missense
REPIN1ENSG00000214022ENST00000397281p.R82Qc.245G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L1375Pc.4124T>CSubstitution - Missense
ZNF713ENSG00000178665ENST00000429591p.Y329Cc.986A>GSubstitution - Missense
CNPY4ENSG00000166997ENST00000262932p.E224Ec.672A>GSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.T1306_E1311>IEETGc.3917_3935>16Complex - deletion inframe
PINX1ENSG00000254093ENST00000314787p.R248Lc.743G>TSubstitution - Missense
PDPRENSG00000090857ENST00000288050p.I312Vc.934A>GSubstitution - Missense
ENST00000316490p.E2886Vc.8657A>TSubstitution - Missense
ENST00000309900p.E492Vc.1475A>TSubstitution - Missense
ENST00000316490_v65p.M3420Lc.10258A>TSubstitution - Missense
ENST00000316490p.M3372Lc.10114A>TSubstitution - Missense
ENST00000316490p.G3161Wc.9481G>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000237353p.D712Yc.2134G>TSubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.K460Nc.1380G>TSubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.K460Nc.1380G>TSubstitution - Missense
PRKCBENSG00000166501ENST00000321728p.K460Nc.1380G>TSubstitution - Missense
PKN1ENSG00000123143ENST00000342216p.?c.2234+1_2234+8delgtgtgtgcUnknown
PKN1ENSG00000123143ENST00000242783p.?c.2216+1_2216+8delgtgtgtgcUnknown
MEGF8ENSG00000105429ENST00000251268p.P915Tc.2743C>ASubstitution - Missense
ENST00000251268_v61p.P1374Tc.4120C>ASubstitution - Missense
CD177ENSG00000204936ENST00000378012p.?c.53-9C>AUnknown
ZNF233ENSG00000159915ENST00000334152p.A87Tc.259G>ASubstitution - Missense
IRGCENSG00000124449ENST00000244314p.L218Ic.652C>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G785Sc.2353G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T710Tc.2130T>CSubstitution - coding silent
L3MBTL1ENSG00000185513ENST00000427442p.R337Cc.1009C>TSubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.G293Cc.877G>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.L6062Lc.18186C>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.L6062Lc.18186C>ASubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L4361Lc.13083C>ASubstitution - coding silent
GALNT13ENSG00000144278ENST00000392825p.?c.976-9T>GUnknown
GALNT13ENSG00000144278ENST00000409237p.?c.976-9T>GUnknown
FRYLENSG00000075539ENST00000503238p.L129Vc.385T>GSubstitution - Missense
WDSUB1ENSG00000196151ENST00000359774p.W340*c.1020G>ASubstitution - Nonsense
CYTIPENSG00000115165ENST00000264192p.?c.383-1G>TUnknown
PDGFRAENSG00000134853ENST00000257290p.I888Ic.2664C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.V866Dc.2597T>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.V866Dc.2597T>ASubstitution - Missense
POLR2BENSG00000047315ENST00000381227p.R613Wc.1837C>TSubstitution - Missense
NM_002847.2p.S375Cc.1123A>TSubstitution - Missense
NOM1ENSG00000146909ENST00000275820p.R561Pc.1682G>CSubstitution - Missense
ISPDENSG00000214960ENST00000407010p.Q141Hc.423G>TSubstitution - Missense
ISPDENSG00000214960ENST00000407010p.Q141Hc.423G>TSubstitution - Missense
AGR2ENSG00000106541ENST00000419304p.M129Vc.385A>GSubstitution - Missense
ESYT2ENSG00000117868ENST00000251527p.P386Lc.1157C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S152Sc.456C>TSubstitution - coding silent
CSRNP3ENSG00000178662ENST00000342316p.P304Hc.911C>ASubstitution - Missense
TATDN1ENSG00000147687ENST00000276692p.R119*c.355C>TSubstitution - Nonsense
FER1L6ENSG00000214814ENST00000399018p.E1245Vc.3734A>TSubstitution - Missense
KLHL38ENSG00000175946ENST00000325995p.P319Lc.956C>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.N1935Sc.5804A>GSubstitution - Missense
ZFP36L2ENSG00000152518ENST00000282388p.S308_S310delSASc.922_930delTCGGCCTCCDeletion - In frame
FSHRENSG00000170820ENST00000406846p.R21Rc.61C>ASubstitution - coding silent
PIGFENSG00000151665ENST00000281382p.V57Lc.169G>CSubstitution - Missense
PTRFENSG00000177469ENST00000357037p.E129Ec.387G>ASubstitution - coding silent
COA3ENSG00000183978ENST00000328434p.?c.214+10C>TUnknown
TUBG1ENSG00000131462ENST00000251413p.A83Ac.249C>GSubstitution - coding silent
C1QL1ENSG00000131094ENST00000253407p.A58Sc.172G>TSubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.S633Sc.1899G>ASubstitution - coding silent
SPAG9ENSG00000008294ENST00000357122p.G6Vc.17G>TSubstitution - Missense
WFIKKN2ENSG00000173714ENST00000311378p.Q70Hc.210G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R846Lc.2537G>TSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.G6Vc.17G>TSubstitution - Missense
GRAMD1AENSG00000089351ENST00000317991p.D300Yc.898G>TSubstitution - Missense
NPHS1ENSG00000161270ENST00000378910p.W1201Rc.3601T>CSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.T749Tc.2247C>TSubstitution - coding silent
ZNF585AENSG00000196967ENST00000392157p.Q318Hc.954G>TSubstitution - Missense
NMD3ENSG00000169251ENST00000351193p.S297fs*17c.886delGDeletion - Frameshift
GPR160ENSG00000173890ENST00000355897p.Y281Hc.841T>CSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.W578*c.1733G>ASubstitution - Nonsense
PLD1ENSG00000075651ENST00000331659p.G14Rc.40G>ASubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.T22Tc.66G>TSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.T22Tc.66G>TSubstitution - coding silent
PCDHGA10ENSG00000253846ENST00000398610p.A428Sc.1282G>TSubstitution - Missense
PCDHGC5ENSG00000240764ENST00000252087p.K935Nc.2805G>TSubstitution - Missense
PCDHGC5ENSG00000240764ENST00000252087p.K935Nc.2805G>TSubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.K923Nc.2769G>TSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.K923Nc.2769G>TSubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.K923Nc.2769G>TSubstitution - Missense
PCDHGA8ENSG00000253767ENST00000398604p.K923Nc.2769G>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.K923Nc.2769G>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.K922Nc.2766G>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.K922Nc.2766G>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.K918Nc.2754G>TSubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.K914Nc.2742G>TSubstitution - Missense
ENST00000573521_v68p.K923Nc.2769G>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.K922Nc.2766G>TSubstitution - Missense
ENST00000571252_v68p.K922Nc.2766G>TSubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.K920Nc.2760G>TSubstitution - Missense
ENST00000576222_v68p.K920Nc.2760G>TSubstitution - Missense
GFI1BENSG00000165702ENST00000372122p.Q216Qc.648G>ASubstitution - coding silent
NTNG2ENSG00000196358ENST00000393229p.P116Hc.347C>ASubstitution - Missense
FCN2ENSG00000160339ENST00000291744p.A231Ac.693G>ASubstitution - coding silent
CCDC183ENSG00000213213ENST00000338005p.D177Hc.529G>CSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.P1607Rc.4820C>GSubstitution - Missense
NM_014866.1p.P1607Rc.4820C>GSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P126Pc.378T>ASubstitution - coding silent
ENST00000346816p.P126Pc.378T>ASubstitution - coding silent
NOL8ENSG00000198000ENST00000545558p.S843Sc.2529T>ASubstitution - coding silent
ROR2ENSG00000169071ENST00000375708p.M603Vc.1807A>GSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.H339Hc.1017C>TSubstitution - coding silent
CTSLENSG00000135047ENST00000343150p.K233Nc.699G>TSubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.L433Lc.1299G>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.A4753Tc.14257G>ASubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.S499Sc.1497C>TSubstitution - coding silent
C19orf47ENSG00000160392ENST00000582783p.I353Ic.1059C>TSubstitution - coding silent
CYP2S1ENSG00000167600ENST00000310054p.G217fs*58c.645delGDeletion - Frameshift
SHKBP1ENSG00000160410ENST00000291842p.T32Tc.96C>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.A1332Sc.3994G>TSubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.A286Vc.857C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.K1669Nc.5007G>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.I1663Vc.4987A>GSubstitution - Missense
CXorf40BENSG00000197021ENST00000370404p.R26Lc.77G>TSubstitution - Missense
SPANXN2ENSG00000203924ENST00000370498p.T8Tc.24C>ASubstitution - coding silent
PASD1ENSG00000166049ENST00000370357p.?c.1437+10G>TUnknown
ZNF43ENSG00000198521ENST00000354959p.E64*c.190G>TSubstitution - Nonsense
ENST00000344519_v68p.G44fs*26c.127_128insTInsertion - Frameshift
DHX34ENSG00000134815ENST00000328771p.N288Sc.863A>GSubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.W773Cc.2319G>TSubstitution - Missense
EML2ENSG00000125746ENST00000245925p.E37Kc.109G>ASubstitution - Missense
SPHK2ENSG00000063176ENST00000245222p.S327Sc.981C>TSubstitution - coding silent
SPHK2ENSG00000063176ENST00000443164p.S389Sc.1167C>TSubstitution - coding silent
TMEM143ENSG00000161558ENST00000293261p.R360Rc.1080C>TSubstitution - coding silent
GSG1LENSG00000169181ENST00000447459p.C292Fc.875G>TSubstitution - Missense
BAXENSG00000087088ENST00000345358p.P130Pc.390G>ASubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000416288p.R37Rc.111G>ASubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000416288p.E38Kc.112G>ASubstitution - Missense
SPNS1ENSG00000169682ENST00000311008p.R520Rc.1560C>TSubstitution - coding silent
PRSS21ENSG00000007038ENST00000005995p.P107Lc.320C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.G579Dc.1736G>ASubstitution - Missense
POTEIENSG00000196834ENST00000451531p.H134Qc.402C>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.A3816Ec.11447C>ASubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.?c.2695+1G>TUnknown
THSD7BENSG00000144229ENST00000413152p.?c.2602+1G>TUnknown
CD200R1ENSG00000163606ENST00000308611p.P256Rc.767C>GSubstitution - Missense
TAGLN3ENSG00000144834ENST00000273368p.G48fs*9c.136delCDeletion - Frameshift
ENST00000540095p.G48fs*9c.136delCDeletion - Frameshift
CD96ENSG00000153283ENST00000283285p.W543Rc.1627T>ASubstitution - Missense
CASRENSG00000036828ENST00000296154p.P278Tc.832C>ASubstitution - Missense
IQCB1ENSG00000173226ENST00000310864p.H375Nc.1123C>ASubstitution - Missense
HGDENSG00000113924ENST00000283871p.?c.470-3C>AUnknown
CPNE4ENSG00000196353ENST00000512332p.S117Rc.349A>CSubstitution - Missense
CASRENSG00000036828ENST00000296154p.A986Tc.2956G>ASubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.V423Vc.1269T>ASubstitution - coding silent
CNTN6ENSG00000134115ENST00000446702p.G424Vc.1271G>TSubstitution - Missense
RNF150ENSG00000170153ENST00000515673p.T368Ic.1103C>TSubstitution - Missense
XM_371709.3p.T277Ic.830C>TSubstitution - Missense
NM_001184p.V696Vc.2088C>TSubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.A1449Tc.4345G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.P285Pc.855A>TSubstitution - coding silent
MEGF10ENSG00000145794ENST00000274473p.T58Tc.174G>TSubstitution - coding silent
SLC22A5ENSG00000197375ENST00000245407p.Q110Lc.329A>TSubstitution - Missense
ARSKENSG00000164291ENST00000380009p.G22Rc.64G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.Y2389Cc.7166A>GSubstitution - Missense
CHD1ENSG00000153922ENST00000284049p.V1197fs*1c.3585delADeletion - Frameshift
CDH7ENSG00000081138ENST00000323011p.R351Hc.1052G>ASubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.R351Hc.1052G>ASubstitution - Missense
TBL1YENSG00000092377ENST00000383032p.M124Rc.371T>GSubstitution - Missense
CCDC102BENSG00000150636ENST00000358653p.S278Ic.833G>TSubstitution - Missense
PDXPENSG00000241360ENST00000215904p.A272Ac.816G>ASubstitution - coding silent
TFAP2AENSG00000137203ENST00000379608p.S409Ic.1226G>TSubstitution - Missense
TFAP2AENSG00000137203ENST00000379604p.S415Ic.1244G>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.E84*c.250G>TSubstitution - Nonsense
DSTENSG00000151914ENST00000370754p.E262*c.784G>TSubstitution - Nonsense
USP17L2ENSG00000223443ENST00000333796p.R423Gc.1267C>GSubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.V214Ic.640G>ASubstitution - Missense
TEX10ENSG00000136891ENST00000374902p.G345Wc.1033G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.G94Vc.281G>TSubstitution - Missense
MUSKENSG00000030304ENST00000374448p.?c.79+6T>AUnknown
ENST00000394831p.K580Rc.1739A>GSubstitution - Missense
PALM2ENSG00000243444ENST00000374531p.D312Yc.934G>TSubstitution - Missense
NKAIN2ENSG00000188580ENST00000368417p.P113Qc.338C>ASubstitution - Missense
FAM46AENSG00000112773ENST00000369756p.R188Rc.564C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.Q2350Qc.7050G>ASubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.Q2205Qc.6615G>ASubstitution - coding silent
OR3A1ENSG00000180090ENST00000323404p.R125Lc.374G>TSubstitution - Missense
OR1A1ENSG00000172146ENST00000304094p.H56Nc.166C>ASubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.?c.869+7A>GUnknown
FAM110CENSG00000184731ENST00000327669p.P118Pc.354C>TSubstitution - coding silent
SP4ENSG00000105866ENST00000222584p.L224Lc.670C>TSubstitution - coding silent
SKAP2ENSG00000005020ENST00000345317p.H289Hc.867C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.T1596Mc.4787C>TSubstitution - Missense
SEMA3DENSG00000153993ENST00000284136p.S274Cc.821C>GSubstitution - Missense
STEAP2ENSG00000157214ENST00000394626p.S9Nc.26G>ASubstitution - Missense
NXPH1ENSG00000122584ENST00000405863p.S189Sc.567C>GSubstitution - coding silent
SLC25A40ENSG00000075303ENST00000341119p.?c.332+2T>AUnknown
MAGEB6ENSG00000176746ENST00000379034p.A199Vc.596C>TSubstitution - Missense
ENST00000381114p.A653Sc.1957G>TSubstitution - Missense
ENST00000381114p.A653Sc.1957G>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.R878Rc.2632C>ASubstitution - coding silent
SAP130ENSG00000136715ENST00000357702p.Q569Lc.1706A>TSubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.Q569Lc.1706A>TSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.G618Wc.1852G>TSubstitution - Missense
SU_SPEGp.G1793Gc.5379A>TSubstitution - coding silent
ENST00000396788p.H837Rc.2510A>GSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.H1000Yc.2998C>TSubstitution - Missense
ENST00000396788p.T830Tc.2490G>ASubstitution - coding silent
EPHA4ENSG00000116106ENST00000281821p.H980Hc.2940C>TSubstitution - coding silent
EPHA4ENSG00000116106ENST00000281821p.H980Hc.2940C>TSubstitution - coding silent
ENST00000373702p.V677Ec.2030T>ASubstitution - Missense
UGT1A10ENSG00000242515ENST00000344644p.V496Ec.1487T>ASubstitution - Missense
UGT1A7ENSG00000244122ENST00000373426p.V496Ec.1487T>ASubstitution - Missense
DIS3L2ENSG00000144535ENST00000325385p.R748Hc.2243G>ASubstitution - Missense
TRPM8ENSG00000144481ENST00000324695p.R897Wc.2689A>TSubstitution - Missense
UGT1A5ENSG00000240224ENST00000373414p.V500Ec.1499T>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.V499Ec.1496T>ASubstitution - Missense
UGT1A6ENSG00000167165ENST00000305139p.V498Ec.1493T>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000373450p.V496Ec.1487T>ASubstitution - Missense
CLHC1ENSG00000162994ENST00000407122p.L349Ic.1045T>ASubstitution - Missense
CLHC1ENSG00000162994ENST00000407122p.L349Ic.1045T>ASubstitution - Missense
NM_053025p.G766Gc.2298C>ASubstitution - coding silent
SEMA5BENSG00000082684ENST00000195173p.R404Hc.1211G>ASubstitution - Missense
CCDC14ENSG00000175455ENST00000433542p.L561Lc.1681C>TSubstitution - coding silent
MBD4ENSG00000129071ENST00000249910p.D392Yc.1174G>TSubstitution - Missense
EFCC1ENSG00000114654ENST00000480450p.C459Yc.1376G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.T635Tc.1905G>ASubstitution - coding silent
CAND2ENSG00000144712ENST00000295989p.T542Tc.1626G>ASubstitution - coding silent
ENST00000344062p.A413Vc.1238C>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.S2105Sc.6315C>TSubstitution - coding silent
FBLN1ENSG00000077942ENST00000327858p.R562Lc.1685G>TSubstitution - Missense
FBLN1ENSG00000077942ENST00000327858p.I234Lc.700A>CSubstitution - Missense
FBLN1ENSG00000077942ENST00000262722p.I234Lc.700A>CSubstitution - Missense
FAM118AENSG00000100376ENST00000216214p.G35Vc.104G>TSubstitution - Missense
MPPED1ENSG00000186732ENST00000417669p.V201Lc.601G>TSubstitution - Missense
C22orf34ENSG00000188511ENST00000444628p.R223Lc.668G>TSubstitution - Missense
PTH1RENSG00000160801ENST00000313049p.?c.1354-3C>GUnknown
PTPN23ENSG00000076201ENST00000265562p.T1057Tc.3171C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000357086p.?c.1887-6G>TUnknown
FRS3ENSG00000137218ENST00000259748p.G408Wc.1222G>TSubstitution - Missense
GNB2ENSG00000172354ENST00000303210p.G324Gc.972C>GSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T1059Tc.3177G>CSubstitution - coding silent
POM121ENSG00000196313ENST00000395270p.I764Tc.2291T>CSubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.A557Ac.1671C>TSubstitution - coding silent
NDOR1ENSG00000188566ENST00000371521p.T16Tc.48G>CSubstitution - coding silent
NDOR1ENSG00000188566ENST00000344894p.T16Tc.48G>CSubstitution - coding silent
ENST00000324457p.D79Nc.235G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.G633Ac.1898G>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.I1077Lc.3229A>CSubstitution - Missense
FAM154AENSG00000155875ENST00000380534p.P122Hc.365C>ASubstitution - Missense
NLGN4XENSG00000146938ENST00000381095p.Q227Kc.679C>ASubstitution - Missense
STSENSG00000101846ENST00000217961p.V453Vc.1359G>TSubstitution - coding silent
ATP7AENSG00000165240ENST00000341514p.?c.2782-1G>TUnknown
REXO1ENSG00000079313ENST00000170168p.A706fs*65c.2116delGDeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.S2103Fc.6308C>TSubstitution - Missense
ENST00000405167p.S2103Fc.6308C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2222Tc.6664G>ASubstitution - Missense
ENST00000405167p.A2222Tc.6664G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2258Lc.6773C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.P632fs*4c.1894_1895delCCDeletion - Frameshift
TNK2ENSG00000061938ENST00000333602p.P632fs*4c.1894_1895delCCDeletion - Frameshift
ENST00000405167p.H1021Dc.3061C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V1017Ac.3050T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1227Ic.3680C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D1221Dc.3663C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1566Ac.4696A>GSubstitution - Missense
ENST00000405167p.T1566Ac.4696A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1665Lc.4995T>CSubstitution - coding silent
RARBENSG00000077092ENST00000330688p.D249Ec.747C>ASubstitution - Missense
RARBENSG00000077092ENST00000404969p.D256Ec.768C>ASubstitution - Missense
MFI2ENSG00000163975ENST00000296351p.G289fs*>14c.866delGDeletion - Frameshift
WDR53ENSG00000185798ENST00000332629p.R284Cc.850C>TSubstitution - Missense
OR5H2ENSG00000197938ENST00000355273p.S198Sc.594T>CSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.A263fs*33c.782_783insGInsertion - Frameshift
BRPF1ENSG00000156983ENST00000383829p.T907Tc.2721A>CSubstitution - coding silent
BRPF1ENSG00000156983ENST00000383829p.P971Pc.2913C>ASubstitution - coding silent
DSPPENSG00000152591ENST00000399271p.G123Ec.368G>ASubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.A850Dc.2549C>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.M324Ic.972G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.E250Ac.749A>CSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.E217Ac.650A>CSubstitution - Missense
ENST00000354247p.G155Vc.464G>TSubstitution - Missense
XM_372202.2p.L505Fc.1513C>TSubstitution - Missense
SBK3ENSG00000231274ENST00000420723p.R157Rc.469C>ASubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.L367Mc.1099C>ASubstitution - Missense
ZNF132ENSG00000131849ENST00000254166p.K305Ec.913A>GSubstitution - Missense
FUT5ENSG00000130383ENST00000252675p.D39Nc.115G>ASubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.Y352_Y408del57c.1054_1224del171Deletion - In frame
ZNF814ENSG00000204514ENST00000435989p.E293Dc.879A>CSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.V282Ac.845T>CSubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.R264Lc.791G>TSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000361686p.L491Lc.1473G>CSubstitution - coding silent
TGFBRAP1ENSG00000135966ENST00000258449p.Q412Qc.1236G>ASubstitution - coding silent
ENST00000396566p.V162Lc.484G>TSubstitution - Missense
FBXL2ENSG00000153558ENST00000538181p.P322Qc.965C>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.?c.2764-2A>GUnknown
ULK4ENSG00000168038ENST00000301831p.L453Lc.1359A>GSubstitution - coding silent
CSRNP1ENSG00000144655ENST00000273153p.R78Rc.234G>ASubstitution - coding silent
KLHL40ENSG00000157119ENST00000287777p.A260Sc.778G>TSubstitution - Missense
PJA2ENSG00000198961ENST00000361189p.C105Sc.314G>CSubstitution - Missense
ENSG00000187185ENST00000335616p.T207fs*7c.620_635>GCTComplex - frameshift
CTNND2ENSG00000169862ENST00000304623p.P533Rc.1598C>GSubstitution - Missense
CDH11ENSG00000140937ENST00000394156p.D85Vc.254A>TSubstitution - Missense
PSKH1ENSG00000159792ENST00000291041p.E141Dc.423G>TSubstitution - Missense
KIAA0895LENSG00000196123ENST00000290881p.?c.847+1G>TUnknown
ACTG2ENSG00000163017ENST00000345517p.Y280*c.840C>ASubstitution - Nonsense
LRRTM4ENSG00000176204ENST00000409093p.Y91Yc.273T>CSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.S733Ic.2198G>TSubstitution - Missense
REG1BENSG00000172023ENST00000305089p.S117Yc.350C>ASubstitution - Missense
MED12LENSG00000144893ENST00000474524p.E512Kc.1534G>ASubstitution - Missense
ENST00000356539_v65p.P642Pc.1926C>TSubstitution - coding silent
PLCH1ENSG00000114805ENST00000334686p.R323Cc.967C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000447496p.R341Cc.1021C>TSubstitution - Missense
TRAM1L1ENSG00000174599ENST00000310754p.R357Sc.1071A>CSubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.T253Tc.759C>ASubstitution - coding silent
KIAA1244ENSG00000112379ENST00000251691p.G269Gc.807G>TSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.T815Nc.2444C>ASubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.T815Nc.2444C>ASubstitution - Missense
ZCCHC2ENSG00000141664ENST00000269499p.M750Ic.2250G>ASubstitution - Missense
MC5RENSG00000176136ENST00000324750p.S226Nc.677G>ASubstitution - Missense
RCVRNENSG00000109047ENST00000226193p.K198Nc.594G>TSubstitution - Missense
TNNT1ENSG00000105048ENST00000291901p.R189Sc.565C>ASubstitution - Missense
ENTPD6ENSG00000197586ENST00000376652p.G97Rc.289G>CSubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.P28Tc.82C>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.G210Gc.630G>TSubstitution - coding silent
PLAGL2ENSG00000126003ENST00000246229p.A388Ac.1164G>TSubstitution - coding silent
DNMT3BENSG00000088305ENST00000328111p.G198Gc.594G>TSubstitution - coding silent
DGCR6ENSG00000183628ENST00000331444p.V149Gc.446T>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000392505p.G825*c.2473G>TSubstitution - Nonsense
OSBPL6ENSG00000079156ENST00000190611p.G800*c.2398G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.?c.89201-6C>TUnknown
ENST00000356127p.?c.89195-6C>TUnknown
TTNENSG00000155657ENST00000342175p.?c.70286-6C>TUnknown
NM_003319p.?c.69710-6C>TUnknown
ENST00000356127p.E22308Dc.66924A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E16005Dc.48015A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G14797Ec.44390G>ASubstitution - Missense
ENST00000356127p.?c.30178+2T>AUnknown
PGAP1ENSG00000197121ENST00000354764p.A63Tc.187G>ASubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.V363Fc.1087G>TSubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.N1241Hc.3721A>CSubstitution - Missense
SATB2ENSG00000119042ENST00000417098p.P256Lc.767C>TSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.G449Dc.1346G>ASubstitution - Missense
ING5ENSG00000168395ENST00000313552p.V233Fc.697G>TSubstitution - Missense
DRC1ENSG00000157856ENST00000288710p.T582Tc.1746G>CSubstitution - coding silent
OTOFENSG00000115155ENST00000402415p.L1154Pc.3461T>CSubstitution - Missense
HADHAENSG00000084754ENST00000380649p.A695fs*35c.2083delGDeletion - Frameshift
SLC5A6ENSG00000138074ENST00000310574p.R580Qc.1739G>ASubstitution - Missense
TATDN2ENSG00000157014ENST00000287652p.E467Dc.1401G>TSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.H730Lc.2189A>TSubstitution - Missense
ITGAMENSG00000169896ENST00000287497p.D547Vc.1640A>TSubstitution - Missense
FANCAENSG00000187741ENST00000389301p.I525Vc.1573A>GSubstitution - Missense
SPATA33ENSG00000167523ENST00000301031p.?c.35-4T>AUnknown
SPG7ENSG00000197912ENST00000268704p.?c.618+3_618+60del58Unknown
MYH4ENSG00000264424ENST00000255381p.R252Mc.755G>TSubstitution - Missense
ENSG00000268500ENST00000429354p.R356Rc.1066C>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000389534p.E20Dc.60G>TSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.E20Dc.60G>TSubstitution - Missense
ENST00000359131p.G107fs*>28c.318delCDeletion - Frameshift
STMN3ENSG00000197457ENST00000370053p.K78delKc.232_234delAAGDeletion - In frame
KCNQ2ENSG00000075043ENST00000359125p.?c.387+6C>TUnknown
KCNQ2ENSG00000075043ENST00000354587p.?c.387+6C>TUnknown
PAK7ENSG00000101349ENST00000378429p.P278Pc.834T>GSubstitution - coding silent
CAPN14ENSG00000214711ENST00000403897p.R136Lc.407G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3453Qc.10359C>GSubstitution - Missense
ENST00000405167p.V3843Vc.11529C>TSubstitution - coding silent
ENST00000405167p.T3790Ac.11368A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D3789Ec.11367C>GSubstitution - Missense
ENST00000405167p.T3759Tc.11277C>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V3843Vc.11529C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H4237Hc.12711C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T4228Nc.12683C>ASubstitution - Missense
ENST00000405167p.S2858Fc.8573C>TSubstitution - Missense
ENST00000405167p.D2821Vc.8462A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2821Nc.8461G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2969Tc.8905G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2956Cc.8866G>TSubstitution - Missense
ENST00000405167p.A2953Tc.8857G>ASubstitution - Missense
ENST00000405167p.D3421Ec.10263C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1681Lc.5043T>CSubstitution - coding silent
ENST00000405167p.I1807Tc.5420T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1918Tc.5752G>ASubstitution - Missense
IL17RDENSG00000144730ENST00000296318p.G614*c.1840G>TSubstitution - Nonsense
IL17RDENSG00000144730ENST00000320057p.G470*c.1408G>TSubstitution - Nonsense
SLC18A1ENSG00000036565ENST00000276373p.?c.1016-8T>AUnknown
FAM19A1ENSG00000183662ENST00000478136p.I89Ic.267A>TSubstitution - coding silent
LOXL2ENSG00000134013ENST00000389131p.T151Tc.453G>ASubstitution - coding silent
MFHAS1ENSG00000147324ENST00000276282p.P148Pc.444C>TSubstitution - coding silent
SLC26A7ENSG00000147606ENST00000309536p.Q250Lc.749A>TSubstitution - Missense
NBNENSG00000104320ENST00000265433p.A249Sc.745G>TSubstitution - Missense
INTS2ENSG00000108506ENST00000444766p.?c.2481-1G>TUnknown
GH1ENSG00000259384ENST00000323322p.D142Yc.424G>TSubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.G310Sc.928G>ASubstitution - Missense
SLC13A2ENSG00000007216ENST00000444914p.V503Mc.1507G>ASubstitution - Missense
SLC13A2ENSG00000007216ENST00000314669p.V454Mc.1360G>ASubstitution - Missense
ENST00000329040p.?c.179-1G>TUnknown
NPC1ENSG00000141458ENST00000269228p.?c.2514+7G>TUnknown
WDR45BENSG00000141580ENST00000392325p.T100Tc.300A>TSubstitution - coding silent
DSC3ENSG00000134762ENST00000360428p.P141Hc.422C>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.G337Gc.1011G>ASubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.E1069*c.3205G>TSubstitution - Nonsense
KLHL14ENSG00000197705ENST00000359358p.G583Gc.1749G>TSubstitution - coding silent
ZNF878ENSG00000257446ENST00000602107p.R402Qc.1205G>ASubstitution - Missense
ENST00000380102_v68p.P228Hc.683C>ASubstitution - Missense
KRTAP10-7ENSG00000205441ENST00000380102p.P228Hc.683C>ASubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.D130Vc.389A>TSubstitution - Missense
NM_032217.3p.T1088Ic.3263C>TSubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.I1026Ic.3078A>TSubstitution - coding silent
SLC4A4ENSG00000080493ENST00000425175p.E90Dc.270A>TSubstitution - Missense
SLC4A4ENSG00000080493ENST00000340595p.E46Dc.138A>TSubstitution - Missense
ENST00000312412_v68p.R221Qc.662G>ASubstitution - Missense
ENSG00000174093ENST00000312412p.R221Qc.662G>ASubstitution - Missense
CAPNS2ENSG00000256812ENST00000457326p.R125Wc.373C>TSubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.T223Nc.668C>ASubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.T223Nc.668C>ASubstitution - Missense
KRT20ENSG00000171431ENST00000167588p.R243Kc.728G>ASubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.L814Qc.2441T>ASubstitution - Missense
ABHD14BENSG00000114779ENST00000361143p.S111Lc.332C>TSubstitution - Missense
IQCF6ENSG00000214686ENST00000398780p.R59Cc.175C>TSubstitution - Missense
TCP10L2ENSG00000166984ENST00000366832p.E18Dc.54G>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.?c.3692-6T>CUnknown
DEKENSG00000124795ENST00000397239p.R362Kc.1085G>ASubstitution - Missense
CAP2ENSG00000112186ENST00000229922p.V35Ic.103G>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.I249Ic.747C>ASubstitution - coding silent
HIST1H3AENSG00000198366ENST00000357647p.R9Rc.27G>CSubstitution - coding silent
ENST00000399313p.T732Tc.2196G>CSubstitution - coding silent
FAM180AENSG00000189320ENST00000338588p.L155Vc.463C>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.D958Ec.2874C>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.D958Ec.2874C>GSubstitution - Missense
SU_SgK085p.G299Sc.895G>ASubstitution - Missense
MYLK4ENSG00000145949ENST00000268446p.G299Sc.895G>ASubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.G820Cc.2458G>TSubstitution - Missense
ENST00000242365_v65p.P529Lc.1586C>TSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.V1822Vc.5466G>ASubstitution - coding silent
LMTK2ENSG00000164715ENST00000297293p.S119Sc.357G>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.V2357Vc.7071G>TSubstitution - coding silent
CYP11B1ENSG00000160882ENST00000292427p.?c.395+8G>CUnknown
CYP3A4ENSG00000160868ENST00000336411p.S119Yc.356C>ASubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.E260Kc.778G>ASubstitution - Missense
ENST00000357934p.D326Yc.976G>TSubstitution - Missense
ENST00000356067p.D304Yc.910G>TSubstitution - Missense
JPH1ENSG00000104369ENST00000342232p.R535Lc.1604G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.?c.2591-1G>CUnknown
DCCENSG00000187323ENST00000442544p.G407Vc.1220G>TSubstitution - Missense
ENSG00000173213ENST00000308911p.R251Wc.751C>TSubstitution - Missense
MAPK4ENSG00000141639ENST00000400384p.K45Nc.135G>TSubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.A374Pc.1120G>CSubstitution - Missense
GLG1ENSG00000090863ENST00000205061p.?c.2052+5G>TUnknown
GOSR2ENSG00000108433ENST00000439730p.Q125Hc.375G>TSubstitution - Missense
GIPENSG00000159224ENST00000357424p.S118Sc.354C>GSubstitution - coding silent
RSAD1ENSG00000136444ENST00000258955p.?c.904+10G>TUnknown
ENST00000389608p.R197Rc.591G>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P1138Tc.3412C>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.N407Ic.1220A>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.T877Ac.2629A>GSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.T877Ac.2629A>GSubstitution - Missense
MSGN1ENSG00000151379ENST00000281047p.S18Tc.52T>ASubstitution - Missense
ZNF804AENSG00000170396ENST00000302277p.F819Lc.2457C>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.?c.2446-1G>AUnknown
PARD3BENSG00000116117ENST00000358768p.N1137Kc.3411C>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.N1137Kc.3411C>ASubstitution - Missense
C2orf80ENSG00000188674ENST00000341287p.C130Yc.389G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.A978Sc.2932G>TSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.T2485Tc.7455T>ASubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.L405Lc.1215A>CSubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.Q465*c.1393C>TSubstitution - Nonsense
C8orf22ENSG00000168333ENST00000399653p.M1Kc.2T>ASubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.?c.219+4G>TUnknown
TMEM169ENSG00000163449ENST00000295658p.T164Mc.491C>TSubstitution - Missense
SOX17ENSG00000164736ENST00000297316p.R123Rc.369G>TSubstitution - coding silent
ENST00000310210p.L111Qc.332T>ASubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.N79Nc.237C>TSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.N105Nc.315C>TSubstitution - coding silent
ACSBG2ENSG00000130377ENST00000252669p.G417Gc.1251C>ASubstitution - coding silent
CLEC4GENSG00000182566ENST00000328853p.P17Pc.51C>TSubstitution - coding silent
CCL25ENSG00000131142ENST00000390669p.S145Lc.434C>TSubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.K367Tc.1100A>CSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.Q1623Kc.4867C>ASubstitution - Missense
QRICH2ENSG00000129646ENST00000262765p.D1429Hc.4285G>CSubstitution - Missense
SRP68ENSG00000167881ENST00000307877p.R84Sc.252G>TSubstitution - Missense
SLC7A9ENSG00000021488ENST00000023064p.T350Pc.1048A>CSubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.C867Cc.2601C>TSubstitution - coding silent
TRPM4ENSG00000130529ENST00000252826p.G1009Sc.3025G>ASubstitution - Missense
ENST00000456956p.A109Tc.325G>ASubstitution - Missense
NUP62ENSG00000213024ENST00000352066p.S286_T287insSc.859_860insGCAInsertion - In frame
PRR12ENSG00000126464ENST00000418929p.L718Lc.2152C>TSubstitution - coding silent
ACPTENSG00000142513ENST00000270593p.A342Tc.1024G>ASubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.M25Ic.75G>CSubstitution - Missense
NFS1ENSG00000244005ENST00000374092p.R272Hc.815G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.A514Sc.1540G>TSubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.A514Sc.1540G>TSubstitution - Missense
BPIENSG00000101425ENST00000262865p.N104Yc.310A>TSubstitution - Missense
NFATC2ENSG00000101096ENST00000396009p.V493Ac.1478T>CSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.S810Rc.2430C>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.G114Cc.340G>TSubstitution - Missense
GRM8ENSG00000179603ENST00000405249p.A448Gc.1343C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S1559Nc.4676G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S1559Nc.4676G>ASubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.K816Kc.2448G>ASubstitution - coding silent
TEKENSG00000120156ENST00000380036p.?c.3201-1G>TUnknown
TEKENSG00000120156ENST00000380036p.?c.3201-1G>TUnknown
PLXNA4ENSG00000221866ENST00000378539p.E85*c.253G>TSubstitution - Nonsense
PLXNA4ENSG00000221866ENST00000423507p.E85*c.253G>TSubstitution - Nonsense
PLXNA4ENSG00000221866ENST00000378539p.A481Ac.1443G>ASubstitution - coding silent
RFX3ENSG00000080298ENST00000382004p.?c.215+9A>GUnknown
RFX3ENSG00000080298ENST00000358730p.?c.215+9A>GUnknown
LINGO2ENSG00000174482ENST00000379992p.V462Lc.1384G>TSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.V462Lc.1384G>TSubstitution - Missense
CNTNAP3BENSG00000154529ENST00000377564p.E775Kc.2323G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.A1360Ec.4079C>ASubstitution - Missense
TRIM3ENSG00000110171ENST00000525074p.G665Cc.1993G>TSubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.R222Qc.665G>ASubstitution - Missense
RASAL1ENSG00000111344ENST00000261729p.S88Sc.264G>ASubstitution - coding silent
RASAL1ENSG00000111344ENST00000261729p.V72Vc.216G>CSubstitution - coding silent
SDSLENSG00000139410ENST00000345635p.T233Tc.699G>ASubstitution - coding silent
CLIP1ENSG00000130779ENST00000358808p.?c.2418+1G>TUnknown
IGSF3ENSG00000143061ENST00000369486p.P297Pc.891G>ASubstitution - coding silent
HMGCS2ENSG00000134240ENST00000369406p.E336Kc.1006G>ASubstitution - Missense
SV2AENSG00000159164ENST00000369146p.W432Cc.1296G>TSubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.A395fs*4c.1182_1183delCGDeletion - Frameshift
DHRS3ENSG00000162496ENST00000376223p.Q166Rc.497A>GSubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.R1006Rc.3016C>ASubstitution - coding silent
NRD1ENSG00000078618ENST00000354831p.I795Tc.2384T>CSubstitution - Missense
DNAAF2ENSG00000165506ENST00000298292p.V595Vc.1785G>ASubstitution - coding silent
ENST00000406975p.V86Vc.258G>ASubstitution - coding silent
MDGA2ENSG00000139915ENST00000399232p.A857Dc.2570C>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.P275Pc.825G>ASubstitution - coding silent
SU_LRRK1p.?c.909-5C>TUnknown
LINSENSG00000140471ENST00000314742p.E225Ec.675A>GSubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.G659Vc.1976G>TSubstitution - Missense
OR4F15ENSG00000182854ENST00000332238p.D175Yc.523G>TSubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.Y364*c.1092C>ASubstitution - Nonsense
PCSK6ENSG00000140479ENST00000344273p.Y364*c.1092C>ASubstitution - Nonsense
CACNA1CENSG00000151067ENST00000347598p.Y190Yc.570C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.Y190Yc.570C>TSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000538872p.P475Tc.1423C>ASubstitution - Missense
ITFG2ENSG00000111203ENST00000228799p.V38Vc.114G>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.H1319Nc.3955C>ASubstitution - Missense
SPRR1AENSG00000169474ENST00000368762p.H50Qc.150C>GSubstitution - Missense
PRELPENSG00000188783ENST00000343110p.R25*c.73C>TSubstitution - Nonsense
TRIM49CENSG00000204449ENST00000448984p.C313Fc.938G>TSubstitution - Missense
ENST00000257034p.A300Vc.899C>TSubstitution - Missense
TRIM49ENSG00000168930ENST00000329758p.C313Fc.938G>TSubstitution - Missense
ME3ENSG00000151376ENST00000393324p.V403Vc.1209G>TSubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.D56Dc.168C>TSubstitution - coding silent
NBPF9ENSG00000168614ENST00000338347p.N531Nc.1593C>TSubstitution - coding silent
PRAMEF11ENSG00000204513ENST00000535591p.P33Sc.97C>TSubstitution - Missense
OR2L2ENSG00000203663ENST00000366479p.Q99Pc.296A>CSubstitution - Missense
OR2T27ENSG00000187701ENST00000344889p.S243*c.728C>ASubstitution - Nonsense
C1orf168ENSG00000187889ENST00000343433p.P450Tc.1348C>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000435165p.P100Pc.300T>ASubstitution - coding silent
SGIP1ENSG00000118473ENST00000371039p.P398Pc.1194T>ASubstitution - coding silent
GNPNAT1ENSG00000100522ENST00000216410p.R129Tc.386G>CSubstitution - Missense
SH3GLB1ENSG00000097033ENST00000482504p.?c.570+8A>GUnknown
ENST00000212369p.?c.570+8A>GUnknown
PCNXL4ENSG00000126773ENST00000406854p.Y208Yc.624T>CSubstitution - coding silent
SLC38A6ENSG00000139974ENST00000354886p.V124Lc.370G>TSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.A333Sc.997G>TSubstitution - Missense
GPHNENSG00000171723ENST00000478722p.Q307Hc.921G>TSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.R1043fs*3c.3128delGDeletion - Frameshift
ADCK1ENSG00000063761ENST00000341211p.F409Fc.1227C>TSubstitution - coding silent
C14orf159ENSG00000133943ENST00000523816p.?c.905_919+20del35Unknown
FAM181AENSG00000140067ENST00000267594p.?c.99+9G>TUnknown
EVLENSG00000196405ENST00000392920p.A11Sc.31G>TSubstitution - Missense
EVLENSG00000196405ENST00000392920p.D58Gc.173A>GSubstitution - Missense
ENSG00000117600ENST00000370185p.V621Mc.1861G>ASubstitution - Missense
F7ENSG00000057593ENST00000375581p.R456Cc.1366C>TSubstitution - Missense
UGT3A2ENSG00000168671ENST00000282507p.S446Sc.1338C>ASubstitution - coding silent
SPEF2ENSG00000152582ENST00000303129p.M114fs*22c.339delCDeletion - Frameshift
SPEF2ENSG00000152582ENST00000356031p.I214Vc.640A>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.Y119Fc.356A>TSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.L281Lc.843C>ASubstitution - coding silent
C7ENSG00000112936ENST00000313164p.Q17Ec.49C>GSubstitution - Missense
KARSENSG00000065427ENST00000302445p.K36Kc.108G>ASubstitution - coding silent
TRPC4ENSG00000133107ENST00000379705p.N712Kc.2136C>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.G693Wc.2077G>TSubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.G693Wc.2077G>TSubstitution - Missense
F5ENSG00000198734ENST00000367797p.R1573Lc.4718G>TSubstitution - Missense
CLSPNENSG00000092853ENST00000318121p.E686*c.2056G>TSubstitution - Nonsense
CLSPNENSG00000092853ENST00000251195p.E686*c.2056G>TSubstitution - Nonsense
NPAP1ENSG00000185823ENST00000329468p.N54Kc.162C>ASubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.R317Gc.949A>GSubstitution - Missense
NM_004667.3p.I1904Vc.5710A>GSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.G1421Sc.4261G>ASubstitution - Missense
OTUD7AENSG00000169918ENST00000307050p.E264*c.790G>TSubstitution - Nonsense
FCRL6ENSG00000181036ENST00000368106p.?c.604+5G>AUnknown
ATP1A2ENSG00000018625ENST00000361216p.?c.2564-7C>TUnknown
DEDDENSG00000158796ENST00000368006p.E57Ec.171G>ASubstitution - coding silent
INSCENSG00000188487ENST00000379554p.L265Lc.795G>TSubstitution - coding silent
INSCENSG00000188487ENST00000379554p.M445Ic.1335G>ASubstitution - Missense
PDE3BENSG00000152270ENST00000282096p.R138Lc.413G>TSubstitution - Missense
BRSK2ENSG00000174672ENST00000382179p.P486Pc.1458C>ASubstitution - coding silent
BRSK2ENSG00000174672ENST00000308219p.P440Pc.1320C>ASubstitution - coding silent
GLB1L3ENSG00000166105ENST00000431683p.V119Lc.355G>CSubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.H128Lc.383A>TSubstitution - Missense
IGSF9BENSG00000080854ENST00000321016p.T136Mc.407C>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.A136Ac.408T>GSubstitution - coding silent
INSCENSG00000188487ENST00000379554p.V60Vc.180C>ASubstitution - coding silent
ENST00000265969_v68p.L155Lc.465G>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.S725Sc.2175C>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.S725Sc.2175C>TSubstitution - coding silent
CLDN25ENSG00000228607ENST00000453129p.E161Ac.482A>CSubstitution - Missense
C11orf57ENSG00000150776ENST00000280352p.E243fs*20c.726delGDeletion - Frameshift
DSCAML1ENSG00000177103ENST00000321322p.I133Ic.399C>ASubstitution - coding silent
NXPE2ENSG00000204361ENST00000389586p.R151Sc.453G>TSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.R151Sc.453G>TSubstitution - Missense
C11orf71ENSG00000180425ENST00000325636p.F41fs*7c.117_118insGInsertion - Frameshift
MFRPENSG00000235718ENST00000555262p.S299Lc.896C>TSubstitution - Missense
TRAPPC4ENSG00000196655ENST00000533632p.Y92Sc.275A>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.G1677Gc.5031G>ASubstitution - coding silent
NM_000926.2p.Q564Qc.1692G>ASubstitution - coding silent
CASP12ENSG00000204403ENST00000422698p.L17Lc.49T>CSubstitution - coding silent
ENST00000282251_v68p.C770Fc.2309G>TSubstitution - Missense
ATHL1ENSG00000142102ENST00000409548p.V240Ic.718G>ASubstitution - Missense
ENST00000312105p.V63Ic.187G>ASubstitution - Missense
CHIAENSG00000134216ENST00000369740p.Y326fs*59c.974_975ins14Insertion - Frameshift
CHIAENSG00000134216ENST00000430615p.Y218fs*59c.650_651ins14Insertion - Frameshift
STRIP1ENSG00000143093ENST00000369794p.V179Ac.536T>CSubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.?c.53-3C>AUnknown
UBR4ENSG00000127481ENST00000375254p.C2618Sc.7853G>CSubstitution - Missense
ENST00000270720p.A83Tc.247G>ASubstitution - Missense
KLHDC7AENSG00000179023ENST00000400664p.A578Gc.1733C>GSubstitution - Missense
ENST00000338282p.A1104Gc.3311C>GSubstitution - Missense
NTAN1ENSG00000157045ENST00000287706p.?c.488-8T>CUnknown
NM_015133.2p.P587Ac.1759C>GSubstitution - Missense
DCUN1D3ENSG00000188215ENST00000324344p.D222Hc.664G>CSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.K125Nc.375G>TSubstitution - Missense
RAB18ENSG00000099246ENST00000356940p.G136Vc.407G>TSubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.W599Cc.1797G>TSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.D1310Nc.3928G>ASubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.L1507Lc.4521G>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.L1666Fc.4996C>TSubstitution - Missense
TFAMENSG00000108064ENST00000487519p.G153Vc.458G>TSubstitution - Missense
CNGA4ENSG00000132259ENST00000379936p.L489Lc.1467G>TSubstitution - coding silent
CHRM1ENSG00000168539ENST00000306960p.P18Pc.54A>TSubstitution - coding silent
DNAJB12ENSG00000148719ENST00000338820p.P58Pc.174C>ASubstitution - coding silent
NM_001002762.1p.P24Pc.72C>ASubstitution - coding silent
SPDYCENSG00000204710ENST00000377185p.H224Nc.670C>ASubstitution - Missense
ENST00000334646p.V122Vc.366G>TSubstitution - coding silent
AF274025.1p.?c.251+9G>AUnknown
OR10K1ENSG00000173285ENST00000289451p.T159Nc.476C>ASubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.L316Vc.946C>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.D3602Dc.10806C>TSubstitution - coding silent
STAT6ENSG00000166888ENST00000300134p.?c.478+1G>TUnknown
ANO2ENSG00000047617ENST00000546188p.H132Hc.396T>CSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.H132Hc.396T>CSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.K283Qc.847A>CSubstitution - Missense
MON2ENSG00000061987ENST00000393632p.L1461Pc.4382T>CSubstitution - Missense
ENST00000327087_v68p.H132Hc.396T>CSubstitution - coding silent
ENST00000356215_v68p.I99Ic.297C>ASubstitution - coding silent
ENSG00000197301ENST00000356215p.I99Ic.297C>ASubstitution - coding silent
EP400NLENSG00000185684ENST00000376625p.K435Nc.1305G>TSubstitution - Missense
ENST00000376625_v68p.K435Nc.1305G>TSubstitution - Missense
EP400NLENSG00000185684ENST00000361109p.K282Nc.846G>TSubstitution - Missense
ZNF84ENSG00000198040ENST00000392319p.Q29fs*13c.81_82delCTDeletion - Frameshift
C12orf54ENSG00000177627ENST00000314014p.S17Yc.50C>ASubstitution - Missense
NCKAP5LENSG00000167566ENST00000335999p.P637Lc.1910C>TSubstitution - Missense
NCKAP5LENSG00000167566ENST00000335999p.P1046Lc.3137C>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.P1728Tc.5182C>ASubstitution - Missense
IL16ENSG00000172349ENST00000302987p.A335Pc.1003G>CSubstitution - Missense
NM_172217.1p.A335Pc.1003G>CSubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.E256Vc.767A>TSubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.L802Fc.2406G>TSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.F733Fc.2199C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.E1782*c.5344G>TSubstitution - Nonsense
C2CD3ENSG00000168014ENST00000334126p.E1782*c.5344G>TSubstitution - Nonsense
ENST00000317359p.M126Ic.378G>TSubstitution - Missense
GDPD4ENSG00000178795ENST00000315938p.Y26*c.78C>ASubstitution - Nonsense
MYO7AENSG00000137474ENST00000409709p.E476fs*23c.1425delGDeletion - Frameshift
ADAM12ENSG00000148848ENST00000368676p.?c.1422+7C>TUnknown
EBF3ENSG00000108001ENST00000368648p.L115Wc.344T>GSubstitution - Missense
EBF3ENSG00000108001ENST00000355311p.L115Wc.344T>GSubstitution - Missense
MGMTENSG00000170430ENST00000306010p.L207Lc.619T>CSubstitution - coding silent
NM_002412.1p.L176Lc.526T>CSubstitution - coding silent
PRAP1ENSG00000165828ENST00000433452p.P150Sc.448C>TSubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.?c.5110+6T>CUnknown
OR4M1ENSG00000176299ENST00000315957p.R237Wc.709A>TSubstitution - Missense
NOP9ENSG00000196943ENST00000267425p.E380*c.1138G>TSubstitution - Nonsense
GZMBENSG00000100453ENST00000382542p.L47Lc.141G>TSubstitution - coding silent
GZMBENSG00000100453ENST00000216341p.L13Pc.38T>CSubstitution - Missense
OR5A1ENSG00000172320ENST00000302030p.F260Ic.778T>ASubstitution - Missense
OR5AN1ENSG00000176495ENST00000313940p.H245Rc.734A>GSubstitution - Missense
OR56B3PENSG00000180913ENST00000316517p.C189Yc.566G>ASubstitution - Missense
MRGPRFENSG00000172935ENST00000309099p.G61Cc.181G>TSubstitution - Missense
ENST00000342078p.L80Hc.239T>ASubstitution - Missense
CCDC38ENSG00000165972ENST00000344280p.S197Nc.590G>ASubstitution - Missense
ENST00000432996p.N479Nc.1437C>TSubstitution - coding silent
ENST00000341155p.V646Mc.1936G>ASubstitution - Missense
EEA1ENSG00000102189ENST00000322349p.G1331Gc.3993C>ASubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1286Pc.3858A>TSubstitution - coding silent
MYOM3ENSG00000142661ENST00000374434p.?c.3295+4_3295+5ins15Unknown
XM_371214.3p.S1031Sc.3093G>ASubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.?c.1843-9A>GUnknown
FAM178AENSG00000119906ENST00000238961p.P44Lc.131C>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.P1132Pc.3396C>ASubstitution - coding silent
CNTN5ENSG00000149972ENST00000524871p.L62Mc.184C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.L1755Fc.5265A>TSubstitution - Missense
GXYLT1ENSG00000151233ENST00000398675p.M279Vc.835A>GSubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.C326*c.978C>ASubstitution - Nonsense
CCND2ENSG00000118971ENST00000261254p.L164Fc.492G>TSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.S166Cc.496A>TSubstitution - Missense
NM_031277.1p.S166Cc.496A>TSubstitution - Missense
PTENENSG00000171862ENST00000371953p.E99*c.295G>TSubstitution - Nonsense
ADAMTS20ENSG00000173157ENST00000389420p.L1755Fc.5265A>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000521381p.N564Dc.1690A>GSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.L1398Lc.4194A>TSubstitution - coding silent
ENST00000215938p.S94Sc.282A>TSubstitution - coding silent
MMP3ENSG00000149968ENST00000299855p.R65*c.193C>TSubstitution - Nonsense
SEMA5BENSG00000082684ENST00000357599p.R404Hc.1211G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.R458Hc.1373G>ASubstitution - Missense
ATP5G2ENSG00000135390ENST00000338662p.P49Pc.147G>ASubstitution - coding silent
C9orf84ENSG00000165181ENST00000394779p.N444Nc.1332C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374287p.N483Nc.1449C>TSubstitution - coding silent
POM121L12ENSG00000221900ENST00000408890p.P242Hc.725C>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.G236Wc.706G>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357545p.Q355Hc.1065G>CSubstitution - Missense
CXorf66ENSG00000203933ENST00000370540p.P158Pc.474A>GSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.R1413*c.4237C>TSubstitution - Nonsense
PRRC2CENSG00000117523ENST00000392078p.R1413*c.4237C>TSubstitution - Nonsense
LATENSG00000213658ENST00000360872p.V10Mc.28G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C277Fc.830G>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.A500Ac.1500G>TSubstitution - coding silent
NBPF14ENSG00000122497ENST00000369219p.R281Rc.843A>GSubstitution - coding silent
OR2A5ENSG00000221836ENST00000408906p.R122Lc.365G>TSubstitution - Missense
OR4D6ENSG00000166884ENST00000300127p.F177Lc.531C>ASubstitution - Missense
CTSAENSG00000064601ENST00000372484p.R180Hc.539G>ASubstitution - Missense
NSUN3ENSG00000178694ENST00000314622p.R255Lc.764G>TSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.D640Nc.1918G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T2051Mc.6152C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T2051Mc.6152C>TSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E320Kc.958G>ASubstitution - Missense
LATENSG00000213658ENST00000395461p.V46Mc.136G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.C277Fc.830G>TSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.R271Hc.812G>ASubstitution - Missense
CR1LENSG00000197721ENST00000508064p.P17Tc.49C>ASubstitution - Missense
CR1LENSG00000197721ENST00000508064p.P17Lc.50C>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.?c.4017+10G>TUnknown
HOXC10ENSG00000180818ENST00000303460p.P132Hc.395C>ASubstitution - Missense
GOLGA6AENSG00000159289ENST00000290438p.V495Mc.1483G>ASubstitution - Missense
CELF6ENSG00000140488ENST00000287202p.V374Vc.1122G>ASubstitution - coding silent
CCDC33ENSG00000140481ENST00000268082p.T78Sc.232A>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000398814p.N218Ic.653A>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.N421Ic.1262A>TSubstitution - Missense
DGKHENSG00000102780ENST00000337343p.L1162Mc.3484C>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.T841fs*8c.2518delGDeletion - Frameshift
RB1ENSG00000139687ENST00000267163p.T841fs*8c.2518delGDeletion - Frameshift
PCDH17ENSG00000118946ENST00000377918p.G393Gc.1179C>GSubstitution - coding silent
RFX4ENSG00000111783ENST00000357881p.P729fs*>16c.2182delTDeletion - Frameshift
NM_016238.1p.L115Lc.345A>GSubstitution - coding silent
CMKLR1ENSG00000174600ENST00000312143p.L92Lc.276C>TSubstitution - coding silent
TBC1D4ENSG00000136111ENST00000377636p.Q500*c.1498C>TSubstitution - Nonsense
ACAD10ENSG00000111271ENST00000313698p.L732Pc.2195T>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.M2848Vc.8542A>GSubstitution - Missense
NM_015057.1p.M2848Vc.8542A>GSubstitution - Missense
UGGT2ENSG00000102595ENST00000376747p.G414Vc.1241G>TSubstitution - Missense
FRRS1ENSG00000156869ENST00000287474p.Y349Cc.1046A>GSubstitution - Missense
ZEB1ENSG00000148516ENST00000320985p.P152Tc.454C>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.E1209Dc.3627G>CSubstitution - Missense
CDHR1ENSG00000148600ENST00000372117p.Q306Hc.918G>CSubstitution - Missense
EXOC6ENSG00000138190ENST00000260762p.Q688Lc.2063A>TSubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.D43Hc.127G>CSubstitution - Missense
GRIK4ENSG00000149403ENST00000527524p.P476Pc.1428C>ASubstitution - coding silent
HSPA8ENSG00000109971ENST00000532636p.A180Sc.538G>TSubstitution - Missense
GRIK4ENSG00000149403ENST00000527524p.A719Ac.2157C>ASubstitution - coding silent
CHST1ENSG00000175264ENST00000308064p.A156Dc.467C>ASubstitution - Missense
ENST00000330155p.V122Vc.366G>TSubstitution - coding silent


COSMIC

0 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