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OVCAR-8 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

795 mutations reported
281 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
ENST00000265148.1p.?c.694-1G>TUnknown
C2orf71ENSG00000179270ENST00000331664p.S1212Gc.3634A>GSubstitution - Missense
GTF3C2ENSG00000115207ENST00000264720p.L69Pc.206T>CSubstitution - Missense
OCA2ENSG00000104044ENST00000354638p.G359Rc.1075G>CSubstitution - Missense
EEF1DENSG00000104529ENST00000423316p.V498Ic.1492G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.?c.13529-6A>GUnknown
ENST00000328843_v70p.L3419Pc.10256T>CSubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.S309Gc.925A>GSubstitution - Missense
CIZ1ENSG00000148337ENST00000372938p.S577Fc.1730C>TSubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.S332fs*2c.993delCDeletion - Frameshift
EP400ENSG00000183495ENST00000389561p.?c.4855+5G>TUnknown
ZFYVE26ENSG00000072121ENST00000347230p.P939Pc.2817C>ASubstitution - coding silent
RSU1ENSG00000148484ENST00000377921p.G189Gc.567G>ASubstitution - coding silent
ANPEPENSG00000166825ENST00000300060p.K152Nc.456G>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369248p.M474_E476delMFEc.1419_1428>TDeletion - In frame
PAK1ENSG00000149269ENST00000278568p.L6Lc.16C>TSubstitution - coding silent
OR10P1ENSG00000175398ENST00000309675p.G224Vc.671G>TSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.S893*c.2678C>ASubstitution - Nonsense
NDRG3ENSG00000101079ENST00000349004p.G136Gc.408A>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S2403Fc.7208C>TSubstitution - Missense
ZNF326ENSG00000162664ENST00000340281p.P98Sc.292C>TSubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.M146Vc.436A>GSubstitution - Missense
NKIRAS2ENSG00000168256ENST00000307641p.K167Nc.501G>TSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000308008p.T1205Ac.3613A>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.E1016Gc.3047A>GSubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.F982Fc.2946C>TSubstitution - coding silent
IFNA1ENSG00000197919ENST00000276927p.P133Pc.399C>ASubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.N1174Ic.3521A>TSubstitution - Missense
ALPPL2ENSG00000163286ENST00000295453p.R169Gc.505C>GSubstitution - Missense
KIAA0087ENSG00000122548ENST00000242109p.L87Vc.259T>GSubstitution - Missense
ZNF174ENSG00000103343ENST00000268655p.R281Gc.841A>GSubstitution - Missense
SH2D3CENSG00000095370ENST00000373276p.V374Vc.1122C>GSubstitution - coding silent
ARHGAP6ENSG00000047648ENST00000380718p.V706Vc.2118G>TSubstitution - coding silent
CLASP1ENSG00000074054ENST00000455322p.L913Lc.2739G>ASubstitution - coding silent
GPATCH4ENSG00000160818ENST00000438976p.L282fs*1c.845_849delTGAATDeletion - Frameshift
TGENSG00000042832ENST00000220616p.A454Ac.1362T>CSubstitution - coding silent
SH2D7ENSG00000183476ENST00000328828p.L31Lc.93G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.S2149Sc.6447C>TSubstitution - coding silent
MS4A4AENSG00000110079ENST00000337908p.L54*c.161T>ASubstitution - Nonsense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
TMEM229AENSG00000234224ENST00000455783p.D269Nc.805G>ASubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.S99Nc.296G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000343815p.V772Lc.2314G>CSubstitution - Missense
LRMPENSG00000118308ENST00000354454p.G495Gc.1485G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.A2168Ac.6504C>ASubstitution - coding silent
ANKRD12ENSG00000101745ENST00000262126p.K119Ec.355A>GSubstitution - Missense
ZKSCAN7ENSG00000196345ENST00000273320p.P466Pc.1398C>GSubstitution - coding silent
KALRNENSG00000160145ENST00000291478p.K94Ec.280A>GSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.T76Pc.226A>CSubstitution - Missense
TAS2R5ENSG00000127366ENST00000247883p.D65Yc.193G>TSubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.V783Lc.2347G>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.?c.4963+5G>TUnknown
SH2D3CENSG00000095370ENST00000314830p.V442Vc.1326C>GSubstitution - coding silent
AXLENSG00000167601ENST00000359092p.H292Qc.876T>ASubstitution - Missense
ERLEC1ENSG00000068912ENST00000185150p.L11Lc.33G>CSubstitution - coding silent
KIF5AENSG00000155980ENST00000455537p.N161Nc.483C>TSubstitution - coding silent
GOLGB1ENSG00000173230ENST00000340645p.Q2334Lc.7001A>TSubstitution - Missense
ENST00000443737p.A29Ac.87T>CSubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.S725Sc.2175A>GSubstitution - coding silent
SIGLEC7ENSG00000168995ENST00000317643p.I205Vc.613A>GSubstitution - Missense
C8AENSG00000157131ENST00000361249p.V167Gc.500T>GSubstitution - Missense
IGSF22ENSG00000179057ENST00000513874p.P557Ac.1669C>GSubstitution - Missense
ZNF384ENSG00000126746ENST00000396801p.G154Gc.462C>TSubstitution - coding silent
TNNT3ENSG00000130595ENST00000381589p.A124Sc.370G>TSubstitution - Missense
DPH2ENSG00000132768ENST00000255108p.P195Sc.583C>TSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.Q1535Ec.4603C>GSubstitution - Missense
LMX1AENSG00000162761ENST00000367893p.Q260Ec.778C>GSubstitution - Missense
LPAENSG00000198670ENST00000316300p.F953Lc.2859C>ASubstitution - Missense
TRABD2AENSG00000186854ENST00000335459p.Q202*c.604C>TSubstitution - Nonsense
ENST00000405167p.D1893Dc.5679C>TSubstitution - coding silent
ZNF468ENSG00000204604ENST00000243639p.R394Hc.1181G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.?c.1414-3C>TUnknown
DHRS7CENSG00000184544ENST00000330255p.K160*c.478A>TSubstitution - Nonsense
HIST1H3DENSG00000197409ENST00000356476p.D82Dc.246T>CSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.H452Hc.1356C>TSubstitution - coding silent
CYB561ENSG00000008283ENST00000392975p.A214Ac.642G>ASubstitution - coding silent
ITIH3ENSG00000162267ENST00000449956p.V262Lc.784G>CSubstitution - Missense
ENST00000590278p.E360Dc.1080G>CSubstitution - Missense
LIPEENSG00000079435ENST00000244289p.?c.1842+3A>CUnknown
ENST00000397266p.L175Qc.524T>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.R154Tc.461G>CSubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.L269Lc.807C>GSubstitution - coding silent
TNPO1ENSG00000083312ENST00000506351p.R343Sc.1029G>CSubstitution - Missense
GCNT4ENSG00000176928ENST00000322348p.M1Ic.3G>ASubstitution - Missense
PSMA8ENSG00000154611ENST00000308268p.Q20Ec.58C>GSubstitution - Missense
PDPNENSG00000162493ENST00000294489p.A168Ac.504G>ASubstitution - coding silent
CAPN10ENSG00000142330ENST00000391982p.R260Rc.780G>ASubstitution - coding silent
ERGIC3ENSG00000125991ENST00000447986p.T52Rc.155C>GSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.E1324fs*5c.3970_3998del29Deletion - Frameshift
PARP16ENSG00000138617ENST00000261888p.G199Gc.597G>TSubstitution - coding silent
UBAP2LENSG00000143569ENST00000361546p.V772Lc.2314G>CSubstitution - Missense
CSDE1ENSG00000009307ENST00000358528p.H701Rc.2102A>GSubstitution - Missense
MS4A4AENSG00000110079ENST00000395016p.T120Tc.360C>ASubstitution - coding silent
SLC35F3ENSG00000183780ENST00000366618p.K329Kc.987G>ASubstitution - coding silent
ENST00000376951p.Q654Lc.1961A>TSubstitution - Missense
ENST00000544512p.S389Sc.1167C>GSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.T138Tc.414C>TSubstitution - coding silent
CIAPIN1ENSG00000005194ENST00000394391p.M210Lc.628A>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.T1642Tc.4926C>GSubstitution - coding silent
DEFB110ENSG00000203970ENST00000371148p.?c.198_204GCAGTAA>ATUnknown
ZNF527ENSG00000189164ENST00000356178p.G270Vc.809G>TSubstitution - Missense
RNF20ENSG00000155827ENST00000389120p.K530Mc.1589A>TSubstitution - Missense
F13A1ENSG00000124491ENST00000264870p.Q86Kc.256C>ASubstitution - Missense
HTR1FENSG00000179097ENST00000319595p.D69Gc.206A>GSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.F65Ic.193T>ASubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.I162Mc.486C>GSubstitution - Missense
LGR6ENSG00000133067ENST00000255432p.K273Rc.818A>GSubstitution - Missense
DHRS4L2ENSG00000187630ENST00000335125p.M148Tc.443T>CSubstitution - Missense
NM_014824.1p.T650Tc.1950C>GSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.S166Rc.498T>ASubstitution - Missense
ADCK3ENSG00000163050ENST00000366779p.G549Sc.1645G>ASubstitution - Missense
RRP1BENSG00000160208ENST00000340648p.L520Lc.1560C>TSubstitution - coding silent
C1orf141ENSG00000203963ENST00000371007p.C369Wc.1107T>GSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.?c.1854-4_1864>14Unknown
GABRQENSG00000147402ENST00000370306p.D597Ec.1791T>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000509018p.T1205Ac.3613A>GSubstitution - Missense
NELFAENSG00000185049ENST00000333877p.Q418*c.1252C>TSubstitution - Nonsense
SLC22A16ENSG00000004809ENST00000368919p.C27Fc.80G>TSubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.K367fs*69c.1095delGDeletion - Frameshift
BCAT1ENSG00000060982ENST00000261192p.?c.817+1_818-1del5485Unknown
MFSD1ENSG00000118855ENST00000415822p.R503Tc.1508G>CSubstitution - Missense
HERC6ENSG00000138642ENST00000273960p.K299Qc.895A>CSubstitution - Missense
EFHC2ENSG00000183690ENST00000420999p.?c.2233-310_2270del348Unknown
FNDC4ENSG00000115226ENST00000264703p.R136Rc.408A>TSubstitution - coding silent
NM_003319p.L5514Lc.16542C>TSubstitution - coding silent
CLASP1ENSG00000074054ENST00000397587p.L897Lc.2691G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.?c.376-1G>AUnknown
RABEPKENSG00000136933ENST00000373544p.S142Fc.425C>TSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.V442Vc.1326C>GSubstitution - coding silent
SKIV2LENSG00000204351ENST00000375394p.R653Cc.1957C>TSubstitution - Missense
WWC2ENSG00000151718ENST00000403733p.P847Pc.2541G>ASubstitution - coding silent
ENST00000334436p.S235fs*2c.702delCDeletion - Frameshift
RBPJLENSG00000124232ENST00000343694p.?c.1176+9G>AUnknown
USP32ENSG00000170832ENST00000300896p.L959Ic.2875C>ASubstitution - Missense
WIBGENSG00000170473ENST00000408946p.Q39Lc.116A>TSubstitution - Missense
PNLDC1ENSG00000146453ENST00000275275p.P413Sc.1237C>TSubstitution - Missense
ENST00000377290p.D80Nc.238G>ASubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.I487Fc.1459A>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.S1286Gc.3856A>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.V613Lc.1837G>TSubstitution - Missense
DHRS4L2ENSG00000187630ENST00000382755p.M146Tc.437T>CSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.I2039Fc.6115A>TSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.R735Hc.2204G>ASubstitution - Missense
RIMBP3ENSG00000196622ENST00000426804p.L520_L528delLNVRDLDRLc.1559_1585del27Deletion - In frame
XM_374491.1p.?c.1528+2_1528+1969del1968Unknown
ZDHHC2ENSG00000104219ENST00000262096p.F251Lc.753T>ASubstitution - Missense
PAXBP1ENSG00000159086ENST00000331923p.E184Kc.550G>ASubstitution - Missense
KANSL3ENSG00000114982ENST00000431828p.P521Pc.1563C>TSubstitution - coding silent
ZNF317ENSG00000130803ENST00000247956p.A235Tc.703G>ASubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.R1086Rc.3256C>ASubstitution - coding silent
PXDNENSG00000130508ENST00000252804p.S1269Sc.3807G>ASubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000409386p.K226Kc.678G>ASubstitution - coding silent
SPINK5ENSG00000133710ENST00000256084p.?c.794+10G>CUnknown
C6orf222ENSG00000189325ENST00000437635p.D151Nc.451G>ASubstitution - Missense
NM_004667.3p.I431Kc.1292T>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.V613Lc.1837G>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.E1819Ec.5457G>ASubstitution - coding silent
ENSG00000182329ENST00000541917p.G327Sc.979G>ASubstitution - Missense
PLD5ENSG00000180287ENST00000427495p.R472Rc.1416G>TSubstitution - coding silent
BEST4ENSG00000142959ENST00000372207p.P260Tc.778C>ASubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.R534Rc.1602G>TSubstitution - coding silent
ENST00000342887p.L512Pc.1535T>CSubstitution - Missense
MS4A4AENSG00000110079ENST00000337908p.T139Tc.417C>ASubstitution - coding silent
FCHSD2ENSG00000137478ENST00000409418p.T706Tc.2118C>GSubstitution - coding silent
RIPK4ENSG00000183421ENST00000352483p.K51Tc.152A>CSubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.D369Yc.1105G>TSubstitution - Missense
DZIP3ENSG00000198919ENST00000361582p.S528*c.1583C>GSubstitution - Nonsense
C20orf112ENSG00000197183ENST00000359676p.?c.387+5G>AUnknown
LAMB2ENSG00000172037ENST00000305544p.R1312Qc.3935G>ASubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.G324fs*86c.969_979del11Deletion - Frameshift
KRASENSG00000133703ENST00000311936p.P121Hc.362C>ASubstitution - Missense
EML4ENSG00000143924ENST00000318522p.?c.1012-9T>AUnknown
ENST00000451290p.E25Qc.73G>CSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.K1791Ec.5371A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.?c.13529-6A>GUnknown
SEC14L6ENSG00000214491ENST00000402034p.T334Ic.1001C>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000372445p.A257Ac.771T>GSubstitution - coding silent
TNNT3ENSG00000130595ENST00000381561p.A129Sc.385G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.?c.6013+1G>CUnknown
RXFP2ENSG00000133105ENST00000298386p.L737Fc.2209C>TSubstitution - Missense
PLD5ENSG00000180287ENST00000366545p.R442Rc.1326G>TSubstitution - coding silent
DNAJB13ENSG00000187726ENST00000339764p.?c.721-3T>CUnknown
MAP10ENSG00000212916ENST00000418460p.L13Sc.38T>CSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.V2102Mc.6304G>ASubstitution - Missense
PCDHA8ENSG00000204962ENST00000531613p.Y316*c.948C>GSubstitution - Nonsense
HCFC1ENSG00000172534ENST00000310441p.C149Yc.446G>ASubstitution - Missense
KIAA1430ENSG00000164323ENST00000296775p.R428Rc.1284A>GSubstitution - coding silent
TGM4ENSG00000163810ENST00000296125p.K518Nc.1554G>TSubstitution - Missense
P4HTMENSG00000178467ENST00000343546p.E321Ec.963G>ASubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.P2350Ac.7048C>GSubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.A227Sc.679G>TSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.I222Tc.665T>CSubstitution - Missense
PTK6ENSG00000101213ENST00000217185p.G198Vc.593G>TSubstitution - Missense
ENSG00000182329ENST00000295844p.G383Sc.1147G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.376-1G>AUnknown
RAPGEF1ENSG00000107263ENST00000372195p.S310Wc.929C>GSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.V1868Gc.5603T>GSubstitution - Missense
ENST00000360245p.T5Mc.14C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.N586Tc.1757A>CSubstitution - Missense
ENST00000412510p.V32Ic.94G>ASubstitution - Missense
OR14J1ENSG00000204695ENST00000377160p.K320Qc.958A>CSubstitution - Missense
NM_014824.1p.?c.1538-7T>GUnknown
ANKLE2ENSG00000176915ENST00000357997p.R155Rc.465A>GSubstitution - coding silent
ERO1LBENSG00000086619ENST00000354619p.C262Cc.786C>TSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.Y877*c.2631C>ASubstitution - Nonsense
TMEM104ENSG00000109066ENST00000335464p.G144Vc.431G>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.R16Qc.47G>ASubstitution - Missense
CHGBENSG00000089199ENST00000378961p.D491Hc.1471G>CSubstitution - Missense
DKKL1ENSG00000104901ENST00000221498p.H209Qc.627C>GSubstitution - Missense
KRASENSG00000133703ENST00000256078p.P121Hc.362C>ASubstitution - Missense
BCAT1ENSG00000060982ENST00000261192p.?c.390+5_394del2651Unknown
KNTC1ENSG00000184445ENST00000333479p.?c.2019+5G>CUnknown
RNASELENSG00000135828ENST00000367559p.C301Cc.903T>CSubstitution - coding silent
MIIPENSG00000116691ENST00000235332p.P324Lc.971C>TSubstitution - Missense
E2F2ENSG00000007968ENST00000361729p.L153Lc.459G>CSubstitution - coding silent
NEU3ENSG00000162139ENST00000294064p.L288Lc.864C>TSubstitution - coding silent
PARK2ENSG00000185345ENST00000366892p.P113fs*51c.337_376del40Deletion - Frameshift
APCENSG00000134982ENST00000457016p.A1225Sc.3673G>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.V107Vc.321C>TSubstitution - coding silent
TESK2ENSG00000070759ENST00000372086p.?c.792+4A>GUnknown
MYO16ENSG00000041515ENST00000457511p.S798Gc.2392A>GSubstitution - Missense
TNNT3ENSG00000130595ENST00000381579p.A118Sc.352G>TSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.R425Wc.1273C>TSubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.R653Cc.1957C>TSubstitution - Missense
HIST1H2BKENSG00000197903ENST00000396891p.S88Sc.264G>CSubstitution - coding silent
TANGO6ENSG00000103047ENST00000261778p.L173Lc.519G>ASubstitution - coding silent
NM_152424.1p.K54*c.160A>TSubstitution - Nonsense
ZNF253ENSG00000256771ENST00000355650p.T486Rc.1457C>GSubstitution - Missense
RMI1ENSG00000178966ENST00000325875p.R622Qc.1865G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.376-1G>AUnknown
TP53ENSG00000141510ENST00000269305p.?c.376-1G>AUnknown
DGKIENSG00000157680ENST00000288490p.S878Lc.2633C>TSubstitution - Missense
TPM2ENSG00000198467ENST00000378300p.V64Vc.192G>TSubstitution - coding silent
KLHL5ENSG00000109790ENST00000359687p.R429Rc.1287G>TSubstitution - coding silent
MED17ENSG00000042429ENST00000251871p.Q264Qc.792G>ASubstitution - coding silent
CSDE1ENSG00000009307ENST00000369530p.H716Rc.2147A>GSubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.Q780Kc.2338C>ASubstitution - Missense
KRT3ENSG00000186442ENST00000417996p.N256Kc.768C>GSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.Q489Rc.1466A>GSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.P249Tc.745C>ASubstitution - Missense
MROH1ENSG00000179832ENST00000528919p.E128Dc.384G>CSubstitution - Missense
MROH1ENSG00000179832ENST00000423230p.E128Dc.384G>CSubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.L765Lc.2295G>TSubstitution - coding silent
ENST00000537425_v68p.G97Gc.291A>GSubstitution - coding silent
NT5C1BENSG00000185013ENST00000416783p.?c.121-1G>AUnknown
ADAT1ENSG00000065457ENST00000307921p.Q280Hc.840G>TSubstitution - Missense
SSPNENSG00000123096ENST00000242729p.L193Lc.579G>TSubstitution - coding silent
TUBD1ENSG00000108423ENST00000325752p.L348Ic.1042C>ASubstitution - Missense
IKBIPENSG00000166130ENST00000342502p.D252Gc.755A>GSubstitution - Missense
KLHL33ENSG00000185271ENST00000344581p.Q299Kc.895C>ASubstitution - Missense
POU6F1ENSG00000184271ENST00000333640p.L128Lc.382T>CSubstitution - coding silent
NM_014903.3p.L2282Mc.6844C>ASubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.N570Nc.1710T>CSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.N3520Nc.10560C>TSubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.I1168Ic.3504C>TSubstitution - coding silent
FRYENSG00000073910ENST00000380250p.L235Fc.705G>CSubstitution - Missense
RNF103ENSG00000239305ENST00000237455p.D487Ac.1460A>CSubstitution - Missense
PSPC1ENSG00000121390ENST00000338910p.M320Ic.960G>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.S3100Ac.9298T>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.E1259Kc.3775G>ASubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.P113Tc.337C>ASubstitution - Missense
NM_020137p.R259Rc.777G>ASubstitution - coding silent
ABLIM2ENSG00000163995ENST00000447017p.T158Rc.473C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D1893Dc.5679C>TSubstitution - coding silent
CENPEENSG00000138778ENST00000265148p.?c.694-1G>TUnknown
TTNENSG00000155657ENST00000342175p.L5706Lc.17118C>TSubstitution - coding silent
ANKRD62ENSG00000181626ENST00000314074p.P16Pc.48C>TSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.L207Lc.621G>ASubstitution - coding silent
HSPB9ENSG00000197723ENST00000355067p.S40Rc.118A>CSubstitution - Missense
KIAA1430ENSG00000164323ENST00000458385p.R428Rc.1284A>GSubstitution - coding silent
F13A1ENSG00000124491ENST00000264870p.Y168Cc.503A>GSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P1486Lc.4457C>TSubstitution - Missense
RDXENSG00000137710ENST00000343115p.Q529*c.1585C>TSubstitution - Nonsense
ARL2ENSG00000213465ENST00000246747p.D95Nc.283G>ASubstitution - Missense
SKIV2L2ENSG00000039123ENST00000230640p.E586Gc.1757A>GSubstitution - Missense
RABL6ENSG00000196642ENST00000371671p.M146Vc.436A>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000504198p.R102Tc.305G>CSubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.L664Lc.1992G>ASubstitution - coding silent
IGSF22ENSG00000179057ENST00000319338p.P557Ac.1669C>GSubstitution - Missense
UBE2IENSG00000103275ENST00000355803p.P69Pc.207A>CSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.S3660Sc.10980G>ASubstitution - coding silent
ADNPENSG00000101126ENST00000349014p.S141_T142insSc.419_420insCAGInsertion - In frame
PCLOENSG00000186472ENST00000333891p.S4088Cc.12263C>GSubstitution - Missense
MFSD1ENSG00000118855ENST00000264266p.R454Tc.1361G>CSubstitution - Missense
EAF1ENSG00000144597ENST00000396842p.A113Vc.338C>TSubstitution - Missense
ENST00000333807p.?c.2149-310_2186del348Unknown
STRNENSG00000115808ENST00000263918p.A682Ac.2046T>ASubstitution - coding silent
CAPN10ENSG00000142330ENST00000391984p.R260Rc.780G>ASubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.T898fs*31c.2692delADeletion - Frameshift
ANKRD30BENSG00000180777ENST00000358984p.A196Ac.588A>TSubstitution - coding silent
ERGIC3ENSG00000125991ENST00000357394p.T52Rc.155C>GSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.?c.5858-8A>CUnknown
PPP2R2BENSG00000156475ENST00000394413p.R96Tc.287G>CSubstitution - Missense
XPCENSG00000154767ENST00000285021p.A193Vc.578C>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.S881Lc.2642C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.C177Fc.530G>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.P315Pc.945C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373388p.?c.430+1G>CUnknown
ZNF362ENSG00000160094ENST00000373428p.A15Ac.45C>GSubstitution - coding silent
TDRD9ENSG00000156414ENST00000409874p.F653Cc.1958T>GSubstitution - Missense
PAK1ENSG00000149269ENST00000356341p.L6Lc.16C>TSubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.L2304Mc.6910C>ASubstitution - Missense
ATF7ENSG00000170653ENST00000328463p.L35Lc.103T>CSubstitution - coding silent
ATF7ENSG00000170653ENST00000548446p.L35Lc.103T>CSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.T1742Rc.5225C>GSubstitution - Missense
SLC3A1ENSG00000138079ENST00000260649p.T529Sc.1586C>GSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.G185Rc.553G>ASubstitution - Missense
TMEM229AENSG00000234224ENST00000455783p.D269Nc.805G>ASubstitution - Missense
FAM71F2ENSG00000205085ENST00000480462p.F45Lc.135T>ASubstitution - Missense
ENST00000456955p.V268Lc.802G>CSubstitution - Missense
ZNF384ENSG00000126746ENST00000396795p.G154Gc.462C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000302728p.E1016Gc.3047A>GSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.?c.3550-5A>CUnknown
LGR6ENSG00000133067ENST00000439764p.K186Rc.557A>GSubstitution - Missense
CERS2ENSG00000143418ENST00000368954p.?c.613-6C>TUnknown
TTBK2ENSG00000128881ENST00000267890p.V716Lc.2146G>TSubstitution - Missense
METTL13ENSG00000010165ENST00000361735p.E401Ec.1203G>ASubstitution - coding silent
CNNM1ENSG00000119946ENST00000370534p.R37Wc.109C>TSubstitution - Missense
KIF17ENSG00000117245ENST00000247986p.Y843*c.2529C>ASubstitution - Nonsense
SCGNENSG00000079689ENST00000377961p.K81Nc.243A>TSubstitution - Missense
KLK8ENSG00000129455ENST00000391806p.Q147Kc.439C>ASubstitution - Missense
C7ENSG00000112936ENST00000313164p.H559Dc.1675C>GSubstitution - Missense
TTC39AENSG00000085831ENST00000371750p.S19Gc.55A>GSubstitution - Missense
ADARENSG00000160710ENST00000368474p.A787Vc.2360C>TSubstitution - Missense
DSTENSG00000151914ENST00000370754p.R115Lc.344G>TSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.S1730fs*4c.5187delTDeletion - Frameshift
ADAMTSL1ENSG00000178031ENST00000380548p.S775Ac.2323T>GSubstitution - Missense
SLC22A16ENSG00000004809ENST00000439654p.C27Fc.80G>TSubstitution - Missense
ZNF638ENSG00000075292ENST00000377802p.S283Sc.849C>GSubstitution - coding silent
SLC29A1ENSG00000112759ENST00000371708p.T25Tc.75G>ASubstitution - coding silent
SPATA18ENSG00000163071ENST00000295213p.S266Sc.798C>TSubstitution - coding silent
FAPENSG00000078098ENST00000188790p.?c.1153-6T>GUnknown
DNAH14ENSG00000185842ENST00000430092p.S2802Sc.8406C>TSubstitution - coding silent
OR10W1ENSG00000172772ENST00000395079p.L271Mc.811T>ASubstitution - Missense
JAKMIP1ENSG00000152969ENST00000282924p.A375Ac.1125G>ASubstitution - coding silent
ZBTB25ENSG00000089775ENST00000394715p.A43Ac.129T>GSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.E297Dc.891G>CSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.Q702Qc.2106G>ASubstitution - coding silent
B4GALNT3ENSG00000139044ENST00000266383p.?c.170-5C>AUnknown
DPY19L2ENSG00000177990ENST00000324472p.R298Cc.892C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.C177Fc.530G>TSubstitution - Missense
SPG7ENSG00000197912ENST00000268704p.Q93Kc.277C>ASubstitution - Missense
GABRG1ENSG00000163285ENST00000295452p.A239Ac.717A>TSubstitution - coding silent
LRRC66ENSG00000188993ENST00000343457p.K368Ic.1103A>TSubstitution - Missense
NFKBIBENSG00000104825ENST00000313582p.S312Ic.935G>TSubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.T2549Tc.7647A>CSubstitution - coding silent
SMG8ENSG00000167447ENST00000300917p.S20Fc.59C>TSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.T727Sc.2179A>TSubstitution - Missense
P4HTMENSG00000178467ENST00000383729p.E321Ec.963G>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.V1651Gc.4952T>GSubstitution - Missense
DMDENSG00000198947ENST00000378707p.S644Ac.1930T>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S4088Cc.12263C>GSubstitution - Missense
FEM1CENSG00000145780ENST00000274457p.I548Sc.1643T>GSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
ATF7ENSG00000170653ENST00000591397p.L35Lc.103T>CSubstitution - coding silent
TPX2ENSG00000088325ENST00000340513p.I591Vc.1771A>GSubstitution - Missense
TJAP1ENSG00000137221ENST00000372444p.A247Ac.741T>GSubstitution - coding silent
SCYL3ENSG00000000457ENST00000367771p.A54Sc.160G>TSubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.Y728Cc.2183A>GSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.C571Gc.1711T>GSubstitution - Missense
GPATCH4ENSG00000160818ENST00000368232p.L277fs*1c.830_834delTGAATDeletion - Frameshift
ENST00000377560_v62p.I1418Ic.4254C>TSubstitution - coding silent
CNNM4ENSG00000158158ENST00000540067p.V211Ic.631G>ASubstitution - Missense
ENST00000496398_v68p.K42Ec.124A>GSubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.?c.121-1G>AUnknown
CGNL1ENSG00000128849ENST00000281282p.K498fs*1c.1492_1496AAAAC>TComplex - frameshift
CC2D2AENSG00000048342ENST00000424120p.S577Sc.1731G>ASubstitution - coding silent
PARK2ENSG00000185345ENST00000366892p.P113Tc.337C>ASubstitution - Missense
BMP2KENSG00000138756ENST00000335016p.P538Rc.1613C>GSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.R735Hc.2204G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.D742Yc.2224G>TSubstitution - Missense
GLULENSG00000135821ENST00000339526p.G148Vc.443G>TSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.P1452_P1456delPPPPPc.4341_4355del15Deletion - In frame
GTF2H4ENSG00000213780ENST00000259895p.L327Fc.979C>TSubstitution - Missense
EIF3EENSG00000104408ENST00000220849p.M420Vc.1258A>GSubstitution - Missense
GPR115ENSG00000153294ENST00000371220p.I131Vc.391A>GSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.P119Tc.355C>ASubstitution - Missense
EMBENSG00000170571ENST00000303221p.?c.966+1G>AUnknown
PMELENSG00000185664ENST00000449260p.L584Pc.1751T>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.A2985Vc.8954C>TSubstitution - Missense
ANKLE2ENSG00000176915ENST00000337516p.R155Rc.465A>GSubstitution - coding silent
DNAJB13ENSG00000187726ENST00000543947p.?c.196-3T>CUnknown
MYRFENSG00000124920ENST00000278836p.G728Vc.2183G>TSubstitution - Missense
MYRFENSG00000124920ENST00000327797p.G372Vc.1115G>TSubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.?c.1836+9G>TUnknown
DIP2CENSG00000151240ENST00000381496p.P142Tc.424C>ASubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.L992Vc.2974T>GSubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.S2187Tc.6559T>ASubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.?c.449-3C>AUnknown
USH2AENSG00000042781ENST00000366943p.N3520Nc.10560C>TSubstitution - coding silent
ADARENSG00000160710ENST00000292205p.A830Vc.2489C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.S430Rc.1290C>GSubstitution - Missense
HRH3ENSG00000101180ENST00000317393p.V153Mc.457G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.?c.1522-3C>TUnknown
PTPRMENSG00000173482ENST00000400060p.F996Fc.2988C>TSubstitution - coding silent
ENST00000586406p.P30Pc.90C>TSubstitution - coding silent
AKAP1ENSG00000121057ENST00000314126p.S309Gc.925A>GSubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.R429Rc.1287G>TSubstitution - coding silent
NELFAENSG00000185049ENST00000382882p.Q429*c.1285C>TSubstitution - Nonsense
WWC2ENSG00000151718ENST00000448232p.P847Pc.2541G>ASubstitution - coding silent
SLC38A11ENSG00000169507ENST00000409149p.I176Lc.526A>CSubstitution - Missense
CLASP1ENSG00000074054ENST00000541859p.L674Lc.2022G>ASubstitution - coding silent
B2MENSG00000166710ENST00000544417p.?c.68-288_260del481Unknown
PCLOENSG00000186472ENST00000423517p.S4088Cc.12263C>GSubstitution - Missense
MNX1ENSG00000130675ENST00000543409p.E148*c.442G>TSubstitution - Nonsense
DGKIENSG00000157680ENST00000288490p.S878Lc.2633C>TSubstitution - Missense
SLC29A1ENSG00000112759ENST00000313248p.T104Tc.312G>ASubstitution - coding silent
SLC22A16ENSG00000004809ENST00000330550p.C25Fc.74G>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.C177Fc.530G>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.T158Rc.473C>GSubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.T158Rc.473C>GSubstitution - Missense
SLC22A9ENSG00000149742ENST00000279178p.A283Vc.848C>TSubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.K865Qc.2593A>CSubstitution - Missense
MS4A4AENSG00000110079ENST00000395016p.L35*c.104T>ASubstitution - Nonsense
FCHSD2ENSG00000137478ENST00000409418p.P463Rc.1388C>GSubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.G776Vc.2327G>TSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000534860p.V531Vc.1593G>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000451030p.N586Tc.1757A>CSubstitution - Missense
NM_004347.1p.L190Lc.570G>ASubstitution - coding silent
G2E3ENSG00000092140ENST00000206595p.Q176Ec.526C>GSubstitution - Missense
VWFENSG00000110799ENST00000572068p.T26Tc.78C>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.V5195_Q5202>Ec.15584_15604del21Complex - deletion inframe
ADAM17ENSG00000151694ENST00000310823p.P556Lc.1667C>TSubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.R410Rc.1230G>ASubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.?c.1528+2_1528+1969del1968Unknown
ZNF510ENSG00000081386ENST00000375231p.C142Wc.426T>GSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000337414p.V706Vc.2118G>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E2833Qc.8497G>CSubstitution - Missense
NM_003319p.E2787Qc.8359G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S2403Fc.7208C>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.I1139Vc.3415A>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.D1282Vc.3845A>TSubstitution - Missense
AOAHENSG00000136250ENST00000258749p.A364Tc.1090G>ASubstitution - Missense
GIMAP2ENSG00000106560ENST00000223293p.S293Rc.879C>ASubstitution - Missense
ZNF66ENSG00000160229ENST00000425625p.Y247fs*4c.740delADeletion - Frameshift
TUBA4AENSG00000127824ENST00000248437p.?c.375+1_376-1del241Unknown
MCF2ENSG00000101977ENST00000519895p.K796Qc.2386A>CSubstitution - Missense
CLCA1ENSG00000016490ENST00000234701p.A259Vc.776C>TSubstitution - Missense
NM_014824.1p.P407Rc.1220C>GSubstitution - Missense
CLTCENSG00000141367ENST00000269122p.?c.519+1G>TUnknown
MTMR4ENSG00000108389ENST00000323456p.V990Lc.2968G>CSubstitution - Missense
MPOENSG00000005381ENST00000225275p.L617Lc.1851G>TSubstitution - coding silent
MPOENSG00000005381ENST00000340482p.L649Lc.1947G>TSubstitution - coding silent
DHX33ENSG00000005100ENST00000225296p.T419Tc.1257G>ASubstitution - coding silent
NMT1ENSG00000136448ENST00000258960p.V286Vc.858A>GSubstitution - coding silent
DBF4BENSG00000161692ENST00000393547p.?c.1273-3C>TUnknown
HSPB9ENSG00000197723ENST00000355067p.S40Nc.119G>ASubstitution - Missense
CAMKMTENSG00000143919ENST00000378494p.?c.556+9A>GUnknown
OBP2BENSG00000171102ENST00000372034p.K32Nc.96G>CSubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372190p.S311Wc.932C>GSubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.?c.794+10G>CUnknown
PPP2R2BENSG00000156475ENST00000336640p.R99Tc.296G>CSubstitution - Missense
PPP2R2BENSG00000156475ENST00000508545p.R85Tc.254G>CSubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.Q1074Qc.3222G>ASubstitution - coding silent
ZMAT3ENSG00000172667ENST00000311417p.V289Ic.865G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.E2658Qc.7972G>CSubstitution - Missense
ENST00000409072_v68p.?c.1_309del309Unknown
FAM183BENSG00000164556ENST00000409072p.?c.1_309del309Unknown
AXLENSG00000167601ENST00000301178p.H292Qc.876T>ASubstitution - Missense
ENST00000359667p.V32Ic.94G>ASubstitution - Missense
PRXENSG00000105227ENST00000324001p.V515Ac.1544T>CSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.T1073Nc.3218C>ASubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.M224Vc.670A>GSubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.L327Fc.979C>TSubstitution - Missense
ZKSCAN8ENSG00000198315ENST00000330236p.R558Sc.1674G>CSubstitution - Missense
HIST1H2BKENSG00000197903ENST00000356950p.S88Sc.264G>CSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.E1820Ec.5460G>ASubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.E1699Ec.5097G>ASubstitution - coding silent
ENST00000388903p.E1653Ec.4959G>ASubstitution - coding silent
PCDHA8ENSG00000204962ENST00000378123p.Y316*c.948C>GSubstitution - Nonsense
KDM3BENSG00000120733ENST00000314358p.K1180Kc.3540A>GSubstitution - coding silent
NM_005334.1p.C50Yc.149G>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.E434*c.1300G>TSubstitution - Nonsense
TANGO6ENSG00000103047ENST00000261778p.L644Lc.1932G>ASubstitution - coding silent
ZFPM2ENSG00000169946ENST00000407775p.S1064Yc.3191C>ASubstitution - Missense
C8orf74ENSG00000171060ENST00000304519p.H106Pc.317A>CSubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.A823Vc.2468C>TSubstitution - Missense
RADILENSG00000157927ENST00000399583p.H732Qc.2196C>GSubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.A876Pc.2626G>CSubstitution - Missense
ENST00000397266p.P134Pc.402C>ASubstitution - coding silent
ZNF783ENSG00000204946ENST00000434415p.E491Ec.1473G>ASubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.C146Yc.437G>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.S266Sc.798C>TSubstitution - coding silent
ARHGAP15ENSG00000075884ENST00000295095p.D244Nc.730G>ASubstitution - Missense
RBPJLENSG00000124232ENST00000343694p.?c.1176+8C>GUnknown
EMILIN3ENSG00000183798ENST00000332312p.R473Cc.1417C>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.?c.4682-8A>CUnknown
ENST00000251268_v61p.?c.6059-8A>CUnknown
APC2ENSG00000115266ENST00000233607p.L513Lc.1539T>ASubstitution - coding silent
NANOS3ENSG00000187556ENST00000339133p.K64Nc.192G>CSubstitution - Missense
HBQ1ENSG00000086506ENST00000199708p.?c.96-10C>TUnknown
EEF2KENSG00000103319ENST00000263026p.E434*c.1300G>TSubstitution - Nonsense
FAM135BENSG00000147724ENST00000395297p.L207Lc.621G>ASubstitution - coding silent
LRRC6ENSG00000129295ENST00000250173p.Q168*c.502C>TSubstitution - Nonsense
SLC38A11ENSG00000169507ENST00000303735p.I154Lc.460A>CSubstitution - Missense
ITGB6ENSG00000115221ENST00000283249p.Q95Qc.285G>ASubstitution - coding silent
PTPRN2ENSG00000155093ENST00000404321p.E4*c.10G>TSubstitution - Nonsense
ESYT2ENSG00000117868ENST00000251527p.P668Tc.2002C>ASubstitution - Missense
MNX1ENSG00000130675ENST00000252971p.E360*c.1078G>TSubstitution - Nonsense
NSD1ENSG00000165671ENST00000439151p.T1642Tc.4926C>GSubstitution - coding silent
CDHR2ENSG00000074276ENST00000261944p.T724Mc.2171C>TSubstitution - Missense
SPDL1ENSG00000040275ENST00000265295p.Q483Qc.1449G>ASubstitution - coding silent
GPR115ENSG00000153294ENST00000327753p.I74Vc.220A>GSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.E1057Kc.3169G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.E1057Kc.3169G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D742Yc.2224G>TSubstitution - Missense
ENST00000318252p.D471Yc.1411G>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.R1222Gc.3664C>GSubstitution - Missense
BMP3ENSG00000152785ENST00000282701p.S173Rc.519C>GSubstitution - Missense
LCATENSG00000213398ENST00000264005p.A282Pc.844G>CSubstitution - Missense
CES3ENSG00000172828ENST00000303334p.V50Mc.148G>ASubstitution - Missense
TSLPENSG00000145777ENST00000344895p.?c.1_217-33del1588Unknown
FERENSG00000151422ENST00000281092p.I468Ic.1404A>TSubstitution - coding silent
EPM2AIP1ENSG00000178567ENST00000322716p.R67Rc.199C>ASubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.L397Vc.1189C>GSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.Q617Lc.1850A>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.R3670fs*>10c.11008_11011delAGAADeletion - Frameshift
C3orf20ENSG00000131379ENST00000253697p.H461Rc.1382A>GSubstitution - Missense
TRABD2AENSG00000186854ENST00000409520p.Q202*c.604C>TSubstitution - Nonsense
ZNF638ENSG00000075292ENST00000264447p.S283Sc.849C>GSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.S3104Ac.9310T>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.S3100Ac.9298T>GSubstitution - Missense
DMDENSG00000198947ENST00000378723p.S36Ac.106T>GSubstitution - Missense
ENST00000378682p.S1763Ac.5287T>GSubstitution - Missense
APOOENSG00000184831ENST00000379226p.P30Sc.88C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.P2350Ac.7048C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.?c.13529-6A>GUnknown
DNAH11ENSG00000105877ENST00000328843p.L3419Pc.10256T>CSubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.P113fs*51c.337_376del40Deletion - Frameshift
PELI1ENSG00000197329ENST00000358912p.L402Fc.1206G>CSubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.?c.524-2A>CUnknown
TUBA4AENSG00000127824ENST00000392088p.?c.330+1_331-1del241Unknown
GLI2ENSG00000074047ENST00000361492p.G1281Gc.3843G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000263710p.L918Lc.2754G>ASubstitution - coding silent
PTPN4ENSG00000088179ENST00000263708p.Q454Ec.1360C>GSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.M882Ic.2646G>CSubstitution - Missense
DMDENSG00000198947ENST00000357033p.E1263Kc.3787G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.E1259Kc.3775G>ASubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.A80Ac.240C>GSubstitution - coding silent
UQCRC1ENSG00000010256ENST00000203407p.E443Dc.1329G>CSubstitution - Missense
CCR2ENSG00000121807ENST00000292301p.K344Ec.1030A>GSubstitution - Missense
ZNF35ENSG00000169981ENST00000396056p.H253Lc.758A>TSubstitution - Missense
RRP7AENSG00000189306ENST00000323013p.P279Rc.836C>GSubstitution - Missense
ENST00000358511_v70p.N1174Ic.3521A>TSubstitution - Missense
GATA2ENSG00000179348ENST00000341105p.V211Vc.633C>GSubstitution - coding silent
NM_053025p.G902Vc.2705G>TSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.K54*c.160A>TSubstitution - Nonsense
CALN1ENSG00000183166ENST00000395275p.V231Lc.691G>CSubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.V189Lc.565G>CSubstitution - Missense
FOXP4ENSG00000137166ENST00000373060p.G212Gc.636G>ASubstitution - coding silent
FOXP4ENSG00000137166ENST00000373063p.G212Gc.636G>ASubstitution - coding silent
NM_001371.1p.V1651Gc.4952T>GSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.L807Lc.2421G>TSubstitution - coding silent
ENST00000344519_v68p.Y201fs*4c.602delADeletion - Frameshift
ZNF736ENSG00000234444ENST00000355095p.T458Rc.1373C>GSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000307984p.T1218Ac.3652A>GSubstitution - Missense
MEGF10ENSG00000145794ENST00000274473p.S92Sc.276T>GSubstitution - coding silent
CC2D2AENSG00000048342ENST00000389652p.S528Sc.1584G>ASubstitution - coding silent
FREM3ENSG00000183090ENST00000329798p.P369Pc.1107T>GSubstitution - coding silent
DRD3ENSG00000151577ENST00000383673p.R272Sc.816A>TSubstitution - Missense
GRAMD1CENSG00000178075ENST00000358160p.G14Vc.41G>TSubstitution - Missense
TMX3ENSG00000166479ENST00000299608p.V46Vc.138A>GSubstitution - coding silent
PPP3R2ENSG00000188386ENST00000374806p.G147Gc.441C>ASubstitution - coding silent
ATAD2ENSG00000156802ENST00000287394p.P1141Tc.3421C>ASubstitution - Missense
LGSNENSG00000146166ENST00000485906p.L438Wc.1313T>GSubstitution - Missense
REV3LENSG00000009413ENST00000358835p.L3040Vc.9118T>GSubstitution - Missense
NM_002912.1p.L2962Vc.8884T>GSubstitution - Missense
RPSAP58ENSG00000205246ENST00000496398p.K42Ec.124A>GSubstitution - Missense
ENSG00000178404ENST00000322630p.K356Rc.1067A>GSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
HRH3ENSG00000101180ENST00000340177p.V153Mc.457G>ASubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.I554Vc.1660A>GSubstitution - Missense
ADIGENSG00000182035ENST00000537425p.G97Gc.291A>GSubstitution - coding silent
BPIFA1ENSG00000198183ENST00000375422p.D205Ec.615C>GSubstitution - Missense
CHST8ENSG00000124302ENST00000262622p.T226Sc.677C>GSubstitution - Missense
ENST00000398670p.V262Lc.784G>CSubstitution - Missense
ZNF658ENSG00000196409ENST00000377626p.E715Dc.2145A>TSubstitution - Missense
TPM2ENSG00000198467ENST00000378292p.V64Vc.192G>TSubstitution - coding silent
TPM2ENSG00000198467ENST00000360958p.V64Vc.192G>TSubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.E533*c.1597G>TSubstitution - Nonsense
TAOK1ENSG00000160551ENST00000261716p.E533*c.1597G>TSubstitution - Nonsense
SEBOX,VTNENSG00000109072ENST00000226218p.R310Lc.929G>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.V107Vc.321C>TSubstitution - coding silent
SMG6ENSG00000070366ENST00000263073p.E178Vc.533A>TSubstitution - Missense
C17orf82ENSG00000187013ENST00000335108p.V45Mc.133G>ASubstitution - Missense
C17orf82ENSG00000187013ENST00000335108p.V45Mc.133G>ASubstitution - Missense
CALB1ENSG00000104327ENST00000265431p.E210Dc.630A>TSubstitution - Missense
CXCL6ENSG00000124875ENST00000226317p.G38Vc.113G>TSubstitution - Missense
RAD18ENSG00000070950ENST00000264926p.T375Tc.1125A>GSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.?c.828+9A>TUnknown
RRP1BENSG00000160208ENST00000340648p.L521Lc.1561C>TSubstitution - coding silent
ZNF433ENSG00000197647ENST00000344980p.R666Kc.1997G>ASubstitution - Missense
CCR6ENSG00000112486ENST00000400926p.F236Lc.706T>CSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.G289Vc.866G>TSubstitution - Missense
KLHL5ENSG00000109790ENST00000504108p.R429Rc.1287G>TSubstitution - coding silent
RAPGEFL1ENSG00000108352ENST00000264644p.P332Pc.996A>TSubstitution - coding silent
UBN1ENSG00000118900ENST00000396658p.T811Ic.2432C>TSubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.V498Ic.1492G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.I555Vc.1663A>GSubstitution - Missense
NINLENSG00000101004ENST00000278886p.V1103fs*22c.3307delGDeletion - Frameshift
TGM6ENSG00000166948ENST00000202625p.W404Cc.1212G>CSubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.A196Ac.588A>TSubstitution - coding silent
DHRS7CENSG00000184544ENST00000330255p.T159Tc.477G>TSubstitution - coding silent
ENST00000360191p.A375Ac.1125C>ASubstitution - coding silent
CAPN10ENSG00000142330ENST00000354082p.R260Rc.780G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.L12011Lc.36033C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L5639Lc.16917C>TSubstitution - coding silent
ENST00000356127p.L12011Lc.36033C>TSubstitution - coding silent
DIDO1ENSG00000101191ENST00000370371p.S430Rc.1290C>GSubstitution - Missense
DIDO1ENSG00000101191ENST00000370366p.S430Rc.1290C>GSubstitution - Missense
SPG7ENSG00000197912ENST00000341316p.Q93Kc.277C>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.?c.1849-6C>TUnknown
ENST00000407030p.N109Hc.325A>CSubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.T175fs*31c.523delADeletion - Frameshift
BMP2KENSG00000138756ENST00000502871p.P538Rc.1613C>GSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.E1091Kc.3271G>ASubstitution - Missense
SU_NEK10p.E1044Kc.3130G>ASubstitution - Missense
GTF3C2ENSG00000115207ENST00000264720p.L69fs*20c.206_225del20Deletion - Frameshift
LARGEENSG00000133424ENST00000397394p.R60Rc.178C>ASubstitution - coding silent
SEC14L6ENSG00000214491ENST00000402034p.T334Ic.1001C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.D996Dc.2988C>TSubstitution - coding silent
MYT1ENSG00000196132ENST00000536311p.D1023Dc.3069C>TSubstitution - coding silent
PTK6ENSG00000101213ENST00000217185p.V283Vc.849C>ASubstitution - coding silent
COL20A1ENSG00000101203ENST00000326996p.?c.3625-5A>CUnknown
COL20A1ENSG00000101203ENST00000358894p.?c.3526-5A>CUnknown
DIDO1ENSG00000101191ENST00000395343p.S430Rc.1290C>GSubstitution - Missense
NDUFA11ENSG00000174886ENST00000418389p.S148Fc.443C>TSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.R616Rc.1848G>ASubstitution - coding silent
GRIPAP1ENSG00000068400ENST00000376423p.R537Rc.1611G>ASubstitution - coding silent
CHRNA6ENSG00000147434ENST00000276410p.I105Nc.314T>ASubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.S1216Sc.3648G>ASubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.G1025Ac.3074G>CSubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.G11Ac.32G>CSubstitution - Missense
TNNT3ENSG00000130595ENST00000278317p.A126Sc.376G>TSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.E507Dc.1521G>CSubstitution - Missense
LY9ENSG00000122224ENST00000368041p.P449Hc.1346C>ASubstitution - Missense
OCA2ENSG00000104044ENST00000382996p.G359Rc.1075G>CSubstitution - Missense
NDNENSG00000182636ENST00000331837p.M163Tc.488T>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.?c.6133+1G>CUnknown
SUCOENSG00000094975ENST00000263688p.R1005Qc.3014G>ASubstitution - Missense
AMPD3ENSG00000133805ENST00000396554p.?c.445_453+25del34Unknown
CASP5ENSG00000137757ENST00000393141p.L219Lc.657G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.A2168Ac.6504C>ASubstitution - coding silent
ASAH2ENSG00000188611ENST00000395526p.A344Vc.1031C>TSubstitution - Missense
ASAH2ENSG00000188611ENST00000395526p.A325Vc.974C>TSubstitution - Missense
CRTC3ENSG00000140577ENST00000268184p.R97Rc.289A>CSubstitution - coding silent
IQGAP1ENSG00000140575ENST00000268182p.E251Kc.751G>ASubstitution - Missense
PCNXENSG00000100731ENST00000304743p.V1938Vc.5814C>TSubstitution - coding silent
RDH11ENSG00000072042ENST00000381346p.G48Gc.144A>GSubstitution - coding silent
PTGS2ENSG00000073756ENST00000367468p.T104Sc.310A>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.T104Sc.310A>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.N3194Nc.9582T>CSubstitution - coding silent
TRIT1ENSG00000043514ENST00000316891p.I83Lc.247A>CSubstitution - Missense
CHST3ENSG00000122863ENST00000373115p.G177Gc.531G>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.?c.376-1G>AUnknown
ANK3ENSG00000151150ENST00000280772p.Y2461Hc.7381T>CSubstitution - Missense
TTC39AENSG00000085831ENST00000262676p.S15Gc.43A>GSubstitution - Missense
NM_007170p.?c.744+4A>GUnknown
B2MENSG00000166710ENST00000558401p.?c.68-288_260del481Unknown
DVL1ENSG00000107404ENST00000378891p.A317Ac.951C>TSubstitution - coding silent
TTF2ENSG00000116830ENST00000369466p.V4Lc.10G>CSubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.A467Ac.1401A>GSubstitution - coding silent
NM_015906p.A467Ac.1401A>GSubstitution - coding silent
TBX3ENSG00000135111ENST00000257566p.K118Qc.352A>CSubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.K325Rc.974A>GSubstitution - Missense
ALG10ENSG00000139133ENST00000266483p.Y425Sc.1274A>CSubstitution - Missense
CCDC67ENSG00000165325ENST00000298050p.L598Vc.1792C>GSubstitution - Missense
ENST00000298047_v61p.D1282Vc.3845A>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.R425Wc.1273C>TSubstitution - Missense
ENST00000298047_v61p.R425Wc.1273C>TSubstitution - Missense
ENST00000447890p.G568Sc.1702G>ASubstitution - Missense
PICALMENSG00000073921ENST00000532317p.G518Sc.1552G>ASubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.M710Tc.2129T>CSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.L992Vc.2974T>GSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.L992Vc.2974T>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.E297Dc.891G>CSubstitution - Missense
PTPN21ENSG00000070778ENST00000328736p.M839Ic.2517G>ASubstitution - Missense
SLC38A6ENSG00000139974ENST00000267488p.E421Gc.1262A>GSubstitution - Missense
SLC38A6ENSG00000139974ENST00000354886p.E421Gc.1262A>GSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.?c.1854-4_1864>14Unknown
ITGA11ENSG00000137809ENST00000315757p.E128Dc.384G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E2787Qc.8359G>CSubstitution - Missense
ENST00000356127p.E2833Qc.8497G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E2787Qc.8359G>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.E2833Qc.8497G>CSubstitution - Missense
ENST00000376987p.D106Vc.317A>TSubstitution - Missense
ARID3AENSG00000116017ENST00000263620p.A429Tc.1285G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T756Tc.2268T>CSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T756Tc.2268T>CSubstitution - coding silent
PNPLA6ENSG00000032444ENST00000414982p.?c.2287+9C>TUnknown
PNPLA6ENSG00000032444ENST00000221249p.?c.2143+9C>TUnknown
LHFPL1ENSG00000182508ENST00000371968p.R49fs*13c.147delGDeletion - Frameshift
RGAG1ENSG00000243978ENST00000465301p.S347Sc.1041C>TSubstitution - coding silent
XRCC5ENSG00000079246ENST00000392133p.V586Vc.1758C>TSubstitution - coding silent
TDRD15ENSG00000218819ENST00000405799p.S1547Cc.4640C>GSubstitution - Missense
PLEKHG4ENSG00000196155ENST00000360461p.R334Qc.1001G>ASubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.R272Sc.816A>CSubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.H188fs*65c.560_561insGInsertion - Frameshift
OR6C75ENSG00000187857ENST00000343399p.T108fs*12c.321_322insGInsertion - Frameshift
MCF2ENSG00000101977ENST00000370576p.K720Qc.2158A>CSubstitution - Missense
MCF2ENSG00000101977ENST00000370573p.K720Qc.2158A>CSubstitution - Missense
MAOBENSG00000069535ENST00000378069p.E376Dc.1128A>CSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.K51Tc.152A>CSubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.C500Rc.1498T>CSubstitution - Missense
LCP1ENSG00000136167ENST00000323076p.T150Mc.449C>TSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.V350Vc.1050G>ASubstitution - coding silent
ENOX1ENSG00000120658ENST00000261488p.V350Vc.1050G>ASubstitution - coding silent
PMLENSG00000140464ENST00000268058p.A743Ac.2229C>TSubstitution - coding silent
PTPN14ENSG00000152104ENST00000366956p.E678Kc.2032G>ASubstitution - Missense
TESENSG00000135269ENST00000358204p.Y353fs*26c.1057_1058insTInsertion - Frameshift
ENST00000257721p.Y353fs*26c.1057_1058insTInsertion - Frameshift
NM_020247p.G270Sc.808G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.M592Lc.1774A>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.M592Lc.1774A>TSubstitution - Missense
CCDC7ENSG00000216937ENST00000277657p.L383Pc.1148T>CSubstitution - Missense
ENST00000349637p.V5150_Q5157>Ec.15449_15469del21Complex - deletion inframe
MICALCLENSG00000133808ENST00000256186p.P469_P470delPPc.1367_1372delCTCCTCDeletion - In frame
TECTAENSG00000109927ENST00000392793p.A374Sc.1120G>TSubstitution - Missense
GOLGA7BENSG00000155265ENST00000370602p.H6Nc.16C>ASubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.?c.1630-7C>AUnknown
EP400ENSG00000183495ENST00000389561p.A2949Vc.8846C>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.?c.449-3C>AUnknown
TARBP1ENSG00000059588ENST00000040877p.?c.1100-10G>CUnknown
PCNXL2ENSG00000135749ENST00000258229p.V271Ic.811G>ASubstitution - Missense
MAP10ENSG00000212916ENST00000418460p.L13Sc.38T>CSubstitution - Missense
GALNT4ENSG00000257594ENST00000529983p.L324Lc.972T>CSubstitution - coding silent
GALNT4ENSG00000257594ENST00000413530p.L152Lc.456T>CSubstitution - coding silent
OR10J3ENSG00000196266ENST00000332217p.T100Tc.300T>ASubstitution - coding silent
DNAJC16ENSG00000116138ENST00000375847p.Q107Lc.320A>TSubstitution - Missense
ENST00000368148p.L296Vc.886C>GSubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.?c.308_310+13del16Unknown
NEU3ENSG00000162139ENST00000294064p.L288Lc.864C>TSubstitution - coding silent
FCHSD2ENSG00000137478ENST00000409418p.?c.1706-7T>GUnknown
ENST00000355746p.A71Vc.212C>TSubstitution - Missense
ENST00000279593p.I171Vc.511A>GSubstitution - Missense
DCAF11ENSG00000100897ENST00000559115p.K346Qc.1036A>CSubstitution - Missense
KLHL33ENSG00000185271ENST00000344581p.Q299Kc.895C>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.M3842Ic.11526G>ASubstitution - Missense
TDRD9ENSG00000156414ENST00000339063p.F368Cc.1103T>GSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.?c.3067-4C>TUnknown
TTC40ENSG00000171811ENST00000263170p.L207Lc.621G>CSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.L2046Lc.6138G>CSubstitution - coding silent
MGMTENSG00000170430ENST00000306010p.P233Lc.698C>TSubstitution - Missense
NM_002412.1p.P202Lc.605C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.M474_E476delMFEc.1419_1428>TDeletion - In frame
KIF26BENSG00000162849ENST00000407071p.C571Gc.1711T>GSubstitution - Missense
SDCCAG8ENSG00000054282ENST00000366541p.E428Vc.1283A>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.V245Vc.735T>GSubstitution - coding silent
TBX10ENSG00000167800ENST00000335385p.A48Pc.142G>CSubstitution - Missense
ZBTB3ENSG00000185670ENST00000394807p.S289Sc.867A>CSubstitution - coding silent
SCGB1A1ENSG00000149021ENST00000278282p.?c.243+46_276del638Unknown
MYRFENSG00000124920ENST00000265460p.G719Vc.2156G>TSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.R1157Qc.3470G>ASubstitution - Missense
SCYL3ENSG00000000457ENST00000367772p.A54Sc.160G>TSubstitution - Missense
TWF1ENSG00000151239ENST00000395510p.Y42Nc.124T>ASubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.C184Gc.550T>GSubstitution - Missense
AMOTL1ENSG00000166025ENST00000433060p.E494Ec.1482A>GSubstitution - coding silent
NT5C2ENSG00000076685ENST00000343289p.?c.688-7A>GUnknown
CNNM1ENSG00000119946ENST00000356713p.R402Wc.1204C>TSubstitution - Missense
ENST00000545858p.?c.97-1G>AUnknown
NM_006575p.R552Qc.1655G>ASubstitution - Missense
HOXD8ENSG00000175879ENST00000313173p.S179Nc.536G>ASubstitution - Missense
C11orf53ENSG00000150750ENST00000280325p.T133Mc.398C>TSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.A375Ac.1125G>ASubstitution - coding silent
CADENSG00000084774ENST00000264705p.A2201Tc.6601G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.Q121*c.361C>TSubstitution - Nonsense
ZNF281ENSG00000162702ENST00000367353p.P715Hc.2144C>ASubstitution - Missense
AGO4ENSG00000134698ENST00000373210p.W771*c.2312G>ASubstitution - Nonsense
LDLRAP1ENSG00000157978ENST00000374338p.C286Gc.856T>GSubstitution - Missense
ENST00000330166p.T1742Rc.5225C>GSubstitution - Missense
HLTFENSG00000071794ENST00000310053p.N920Sc.2759A>GSubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.Q26Rc.77A>GSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.P131Sc.391C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.R4254Tc.12761G>CSubstitution - Missense
FBLN7ENSG00000144152ENST00000331203p.G364Dc.1091G>ASubstitution - Missense
LRRC14ENSG00000160959ENST00000292524p.R415Wc.1243C>TSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.V754Fc.2260G>TSubstitution - Missense
ZNF398ENSG00000197024ENST00000475153p.R530Wc.1588C>TSubstitution - Missense
TAS2R38ENSG00000257138ENST00000547270p.N301Ic.902A>TSubstitution - Missense
SP8ENSG00000164651ENST00000418710p.L17Pc.50T>CSubstitution - Missense
LGSNENSG00000146166ENST00000485906p.G385*c.1153G>TSubstitution - Nonsense
RREB1ENSG00000124782ENST00000379938p.P487Lc.1460C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.P487Lc.1460C>TSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.I1850Sc.5549T>GSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.I1850Sc.5549T>GSubstitution - Missense
CYB561A3ENSG00000162144ENST00000426130p.G221Rc.661G>ASubstitution - Missense
CYB561A3ENSG00000162144ENST00000294072p.G204Rc.610G>ASubstitution - Missense
OR8K5ENSG00000181752ENST00000313447p.Y60Nc.178T>ASubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.V222Mc.664G>ASubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P1486Lc.4457C>TSubstitution - Missense
PARP16ENSG00000138617ENST00000261888p.G199Vc.596G>TSubstitution - Missense
FAM71CENSG00000180219ENST00000324341p.Y33*c.99C>GSubstitution - Nonsense
PMELENSG00000185664ENST00000552882p.L584Pc.1751T>CSubstitution - Missense
LRP3ENSG00000130881ENST00000253193p.E486Dc.1458G>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.T173Pc.517A>CSubstitution - Missense


COSMIC

92 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
ARL2ENSG00000213465ENST00000246747p.D95Nc.283G>ASubstitution - Missense23856246
NOTCH1ENSG00000148400ENST00000277541p.P1486Lc.4457C>TSubstitution - Missense23856246
ADNPENSG00000101126ENST00000349014p.S141_T142insSc.419_420insCAGInsertion - In frame23856246
RDXENSG00000137710ENST00000343115p.Q529*c.1585C>TSubstitution - Nonsense23856246
SKIV2L2ENSG00000039123ENST00000230640p.E586Gc.1757A>GSubstitution - Missense23856246
DLL1ENSG00000198719ENST00000366756p.G185Rc.553G>ASubstitution - Missense23856246
SLC3A1ENSG00000138079ENST00000260649p.T529Sc.1586C>GSubstitution - Missense23856246
SIPA1L2ENSG00000116991ENST00000366630p.Q121*c.361C>TSubstitution - Nonsense23856246
ZNF281ENSG00000162702ENST00000367353p.P715Hc.2144C>ASubstitution - Missense23856246
ENST00000257721p.Y353fs*26c.1057_1058insTInsertion - Frameshift23856246
C2CD3ENSG00000168014ENST00000334126p.I1850Sc.5549T>GSubstitution - Missense23856246
LRP3ENSG00000130881ENST00000253193p.E486Dc.1458G>CSubstitution - Missense23856246
CCDC66ENSG00000180376ENST00000394672p.S489_K490insPc.1467_1468insCCTInsertion - In frame23856246
MS4A4AENSG00000110079ENST00000337908p.L54*c.161T>ASubstitution - Nonsense23856246
C2CD3ENSG00000168014ENST00000313663p.I1850Sc.5549T>GSubstitution - Missense23856246
SP8ENSG00000164651ENST00000418710p.L17Pc.50T>CSubstitution - Missense23856246
TESENSG00000135269ENST00000358204p.Y353fs*26c.1057_1058insTInsertion - Frameshift23856246
CCDC66ENSG00000180376ENST00000394672p.S606_K607insPc.1818_1819insCCTInsertion - In frame23856246
COL1A1ENSG00000108821ENST00000225964p.G377Dc.1130G>ASubstitution - Missense23856246
MAOBENSG00000069535ENST00000378069p.E376Dc.1128A>CSubstitution - Missense23856246
LGSNENSG00000146166ENST00000485906p.G385*c.1153G>TSubstitution - Nonsense23856246
CADENSG00000084774ENST00000264705p.A2201Tc.6601G>ASubstitution - Missense23856246
CCDC7ENSG00000216937ENST00000277657p.L77fs*6c.230_231insTInsertion - Frameshift23856246
RIPK4ENSG00000183421ENST00000332512p.K51Tc.152A>CSubstitution - Missense23856246
MCF2ENSG00000101977ENST00000370573p.K720Qc.2158A>CSubstitution - Missense23856246
TAS2R38ENSG00000257138ENST00000547270p.N301Ic.902A>TSubstitution - Missense23856246
FASTKD3ENSG00000124279ENST00000264669p.I240delIc.715_717delATTDeletion - In frame23856246
EP300ENSG00000100393ENST00000263253p.S1730fs*4c.5188delTDeletion - Frameshift23856246
AGO4ENSG00000134698ENST00000373210p.W771*c.2312G>ASubstitution - Nonsense23856246
FAM71CENSG00000180219ENST00000324341p.Y33*c.99C>GSubstitution - Nonsense23856246
NOTCH1ENSG00000148400ENST00000277541p.P1486Lc.4457C>TSubstitution - Missense23856246
FAM83HENSG00000180921ENST00000388913p.H188fs*65c.560_561insGInsertion - Frameshift23856246
LDLRAP1ENSG00000157978ENST00000374338p.C286Gc.856T>GSubstitution - Missense23856246
OR6C75ENSG00000187857ENST00000343399p.T108fs*12c.321_322insGInsertion - Frameshift23856246
GPATCH4ENSG00000160818ENST00000368232p.L277fs*1c.826_830delGAATTDeletion - Frameshift23856246
CTNNB1ENSG00000168036ENST00000349496p.Q26Rc.77A>GSubstitution - Missense23856246
PMELENSG00000185664ENST00000552882p.L584Pc.1751T>CSubstitution - Missense23856246
PLEKHG4ENSG00000196155ENST00000360461p.R334Qc.1001G>ASubstitution - Missense23856246
LHFPL1ENSG00000182508ENST00000371968p.R49fs*13c.146delGDeletion - Frameshift23856246
ABCC8ENSG00000006071ENST00000389817p.V222Mc.664G>ASubstitution - Missense23856246
CREBBPENSG00000005339ENST00000262367p.S893*c.2678C>ASubstitution - Nonsense23856246
ZNF23ENSG00000167377ENST00000357254p.R272Sc.816A>CSubstitution - Missense23856246
OR8K5ENSG00000181752ENST00000313447p.Y60Nc.178T>ASubstitution - Missense23856246
FBLN7ENSG00000144152ENST00000331203p.G364Dc.1091G>ASubstitution - Missense23856246
HLTFENSG00000071794ENST00000310053p.N920Sc.2759A>GSubstitution - Missense23856246
MCF2ENSG00000101977ENST00000370576p.K720Qc.2158A>CSubstitution - Missense23856246
PARP16ENSG00000138617ENST00000261888p.G199Vc.596G>TSubstitution - Missense23856246
TTNENSG00000155657ENST00000360870p.R4254Tc.12761G>CSubstitution - Missense23856246
FOCADENSG00000188352ENST00000380249p.V754Fc.2260G>TSubstitution - Missense23856246
OCA2ENSG00000104044ENST00000354638p.G359Rc.1075G>CSubstitution - Missense23856246
DZIP3ENSG00000198919ENST00000361582p.S528*c.1583C>GSubstitution - Nonsense23856246
RETNLBENSG00000163515ENST00000295755p.L14fs*1c.29_30insCCTAATCCInsertion - Frameshift23856246
KANK3ENSG00000186994ENST00000330915p.E674delEc.2017_2019delGAGDeletion - In frame23856246
MCF2ENSG00000101977ENST00000370578p.K865Qc.2593A>CSubstitution - Missense23856246
ADAM17ENSG00000151694ENST00000310823p.P556Lc.1667C>TSubstitution - Missense23856246
ERBB2ENSG00000141736ENST00000269571p.G776Vc.2327G>TSubstitution - Missense23856246
MS4A4AENSG00000110079ENST00000395016p.L35*c.104T>ASubstitution - Nonsense23856246
SLC22A9ENSG00000149742ENST00000279178p.A283Vc.848C>TSubstitution - Missense23856246
ABCG8ENSG00000143921ENST00000272286p.D369Yc.1105G>TSubstitution - Missense23856246
OR10W1ENSG00000172772ENST00000395079p.L271Mc.811T>ASubstitution - Missense23856246
NKTRENSG00000114857ENST00000232978p.P131Sc.391C>TSubstitution - Missense23856246
NM_004667.3p.I431Kc.1292T>ASubstitution - Missense23856246
LAMA1ENSG00000101680ENST00000389658p.T173Pc.517A>CSubstitution - Missense23856246
RIPK4ENSG00000183421ENST00000352483p.K51Tc.152A>CSubstitution - Missense23856246
LRRC14ENSG00000160959ENST00000292524p.R415Wc.1243C>TSubstitution - Missense23856246
ENST00000330166p.T1742Rc.5225C>GSubstitution - Missense23856246
CLCA1ENSG00000016490ENST00000234701p.A259Vc.776C>TSubstitution - Missense23856246
PSMA8ENSG00000154611ENST00000308268p.Q20Ec.58C>GSubstitution - Missense23856246
GCNT4ENSG00000176928ENST00000322348p.M1Ic.3G>ASubstitution - Missense23856246
FAM122CENSG00000156500ENST00000370784p.T157fs*9c.469delADeletion - Frameshift23856246
ACACBENSG00000076555ENST00000377848p.Y877*c.2631C>ASubstitution - Nonsense23856246
TMEM104ENSG00000109066ENST00000335464p.G144Vc.431G>TSubstitution - Missense23856246
ACIN1ENSG00000100813ENST00000262710p.R640_S641insPRc.1920_1921insCCACGTInsertion - In frame23856246
HTR1FENSG00000179097ENST00000319595p.D69Gc.206A>GSubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000525539p.N236fs*26c.705_706delAADeletion - Frameshift23856246
NRXN3ENSG00000021645ENST00000335750p.F65Ic.193T>ASubstitution - Missense23856246
MCF2ENSG00000101977ENST00000519895p.K796Qc.2386A>CSubstitution - Missense23856246
OTUD7BENSG00000163113ENST00000369135p.K553delKc.1646_1648delAGADeletion - In frame23856246
PNLDC1ENSG00000146453ENST00000275275p.P413Sc.1237C>TSubstitution - Missense23856246
CCDC116ENSG00000161180ENST00000292779p.I487Fc.1459A>TSubstitution - Missense23856246
EIF4ENIF1ENSG00000184708ENST00000397525p.M6Vc.16A>GSubstitution - Missense23856246
WIBGENSG00000170473ENST00000408946p.Q39Lc.116A>TSubstitution - Missense23856246
GPRC5DENSG00000111291ENST00000228887p.P274fs*24c.817_833del17Deletion - Frameshift23856246
GOLGB1ENSG00000173230ENST00000340645p.Q2334Lc.7001A>TSubstitution - Missense23856246
FAT4ENSG00000196159ENST00000394329p.T1742Rc.5225C>GSubstitution - Missense23856246
NINLENSG00000101004ENST00000278886p.V1103fs*22c.3305delGDeletion - Frameshift23856246
RNF103ENSG00000239305ENST00000237455p.D487Ac.1460A>CSubstitution - Missense23856246
FRYENSG00000073910ENST00000380250p.L235Fc.705G>CSubstitution - Missense23856246
RMI1ENSG00000178966ENST00000325875p.R622Qc.1865G>ASubstitution - Missense23856246
C3orf20ENSG00000131379ENST00000253697p.K367fs*69c.1098delGDeletion - Frameshift23856246
PKD1L2ENSG00000166473ENST00000337114p.N236fs*26c.705_706delAADeletion - Frameshift23856246
ENST00000377290p.D80Nc.238G>ASubstitution - Missense23856246