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

LOX IMVI - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1190 mutations reported
468 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
FBXO31ENSG00000103264ENST00000311635p.I337Ic.1011C>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.P2603Sc.7807C>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.?c.2333+5G>TUnknown
ALPK1ENSG00000073331ENST00000458497p.F117Fc.351C>TSubstitution - coding silent
LRRFIP1ENSG00000124831ENST00000392000p.V760Ic.2278G>ASubstitution - Missense
XM_051221.5p.E1526Ec.4578G>ASubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356253p.I539Nc.1616T>ASubstitution - Missense
SNRKENSG00000163788ENST00000454177p.R638Pc.1913G>CSubstitution - Missense
CA10ENSG00000154975ENST00000340813p.R24Rc.72G>ASubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.P514Lc.1541C>TSubstitution - Missense
ENST00000309900p.R170Qc.509G>ASubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.?c.1339+9G>AUnknown
KLHL12ENSG00000117153ENST00000435533p.A148fs*6c.442delGDeletion - Frameshift
SETD2ENSG00000181555ENST00000330022p.R1122Cc.3364C>TSubstitution - Missense
DAOENSG00000110887ENST00000228476p.?c.813+10G>AUnknown
KCNIP3ENSG00000115041ENST00000468529p.E42Kc.124G>ASubstitution - Missense
CEP250ENSG00000126001ENST00000397527p.P1218Sc.3652C>TSubstitution - Missense
AMHR2ENSG00000135409ENST00000257863p.S273Fc.818C>TSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.G166Ec.497G>ASubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.E312Kc.934G>ASubstitution - Missense
A1CFENSG00000148584ENST00000373995p.G26Ec.77G>ASubstitution - Missense
ENST00000368148p.R887Qc.2660G>ASubstitution - Missense
CACUL1ENSG00000151893ENST00000369151p.L148Ic.442T>ASubstitution - Missense
CPN1ENSG00000120054ENST00000370418p.?c.1012-7C>TUnknown
ENST00000304751p.K60Kc.180G>ASubstitution - coding silent
A2MENSG00000175899ENST00000318602p.?c.483+8T>GUnknown
JMJD1CENSG00000171988ENST00000399262p.K1659Rc.4976A>GSubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.A55Ac.165A>TSubstitution - coding silent
RNF220ENSG00000187147ENST00000361799p.Q505Hc.1515G>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.L546Sc.1637T>CSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.H152Yc.454C>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000311745p.A37Ac.111C>ASubstitution - coding silent
MOB3CENSG00000142961ENST00000371940p.V164Ac.491T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5633Fc.16898C>TSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.E258Kc.772G>ASubstitution - Missense
FOXN1ENSG00000109101ENST00000579795p.A555Sc.1663G>TSubstitution - Missense
ENST00000318252p.?c.9227-7C>TUnknown
VWDEENSG00000146530ENST00000275358p.T776Tc.2328T>CSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.F1583Vc.4747T>GSubstitution - Missense
KCNH6ENSG00000173826ENST00000583023p.?c.1101+8G>TUnknown
ROBO1ENSG00000169855ENST00000464233p.V246Vc.738T>CSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.E933Kc.2797G>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.M635Ic.1905G>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.N4419Nc.13257C>TSubstitution - coding silent
ZNF813ENSG00000198346ENST00000396403p.R272Kc.815G>ASubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.?c.921-10C>TUnknown
XYLBENSG00000093217ENST00000207870p.K433Nc.1299G>TSubstitution - Missense
LFNGENSG00000106003ENST00000402506p.L142Lc.424C>TSubstitution - coding silent
UGGT1ENSG00000136731ENST00000259253p.F1312Fc.3936C>TSubstitution - coding silent
PNPLA1ENSG00000180316ENST00000388715p.S293Lc.878C>TSubstitution - Missense
ENST00000319589p.L58Lc.174C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000370186p.E300Kc.898G>ASubstitution - Missense
OR1K1ENSG00000165204ENST00000277309p.T20Ac.58A>GSubstitution - Missense
RNF220ENSG00000187147ENST00000335497p.Q247Hc.741G>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.T795Ic.2384C>TSubstitution - Missense
KCNIP3ENSG00000115041ENST00000360990p.E68Kc.202G>ASubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.G441Rc.1321G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K2784Rc.8351A>GSubstitution - Missense
SERPING1ENSG00000149131ENST00000278407p.S150Fc.449C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.S3132Fc.9395C>TSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.P1163Lc.3488C>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.A934Ac.2802C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.A2109Vc.6326C>TSubstitution - Missense
OTOGLENSG00000165899ENST00000298820p.?c.2057+7G>AUnknown
TBC1D10CENSG00000175463ENST00000312390p.R220Rc.660G>ASubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.P1029Sc.3085C>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.P805Lc.2414C>TSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.S344Sc.1032G>ASubstitution - coding silent
SF3B4ENSG00000143368ENST00000271628p.?c.1087+10C>TUnknown
CGNL1ENSG00000128849ENST00000281282p.G819Ec.2456G>ASubstitution - Missense
POLR2LENSG00000177700ENST00000322028p.K12Kc.36G>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.L69Pc.206T>CSubstitution - Missense
CORO2BENSG00000103647ENST00000566799p.?c.1171+4C>TUnknown
TTNENSG00000155657ENST00000360870p.L3097Lc.9291G>TSubstitution - coding silent
CPS1ENSG00000021826ENST00000233072p.H1162Hc.3486C>TSubstitution - coding silent
CEACAM18ENSG00000213822ENST00000396477p.P84Lc.251C>TSubstitution - Missense
TEKENSG00000120156ENST00000380036p.?c.53-8C>TUnknown
CACNA1DENSG00000157388ENST00000288139p.M10fs*28c.28_29insAInsertion - Frameshift
CRYZL1ENSG00000205758ENST00000381554p.?c.263-9G>AUnknown
KRTAP13-3ENSG00000240432ENST00000390690p.S50Fc.149C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.V246Vc.738T>CSubstitution - coding silent
LRRC16AENSG00000079691ENST00000329474p.G568Rc.1702G>ASubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.G1423Rc.4267G>ASubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.D191Nc.571G>ASubstitution - Missense
TBC1D25ENSG00000068354ENST00000376771p.P528Pc.1584C>TSubstitution - coding silent
ECT2LENSG00000203734ENST00000367682p.Q339Qc.1017G>ASubstitution - coding silent
GPR64ENSG00000173698ENST00000357991p.T265Tc.795T>ASubstitution - coding silent
SH3RF2ENSG00000156463ENST00000359120p.S348Yc.1043C>ASubstitution - Missense
NUP88ENSG00000108559ENST00000573584p.?c.298-5T>GUnknown
PPARGC1AENSG00000109819ENST00000264867p.S616Tc.1846T>ASubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.K259Kc.777G>ASubstitution - coding silent
SIGLEC9ENSG00000129450ENST00000440804p.W180*c.540G>ASubstitution - Nonsense
PRXENSG00000105227ENST00000324001p.S526Pc.1576T>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.G777Vc.2330G>TSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.F242Fc.726C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000339750p.Q145Qc.435G>ASubstitution - coding silent
ANK3ENSG00000151150ENST00000280772p.E3736Kc.11206G>ASubstitution - Missense
CD1EENSG00000158488ENST00000368167p.V369Ic.1105G>ASubstitution - Missense
OR13C5ENSG00000255800ENST00000374779p.M258Kc.773T>ASubstitution - Missense
DZIP3ENSG00000198919ENST00000361582p.A896Vc.2687C>TSubstitution - Missense
NHSENSG00000188158ENST00000380060p.S1462Yc.4385C>ASubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.A120Ac.360G>ASubstitution - coding silent
SH2D2AENSG00000027869ENST00000392306p.D28Nc.82G>ASubstitution - Missense
CREB3L1ENSG00000157613ENST00000529193p.S238Fc.713C>TSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.G355Ec.1064G>ASubstitution - Missense
SCYL3ENSG00000000457ENST00000367772p.?c.815+8C>TUnknown
C10orf71ENSG00000177354ENST00000374144p.T90Tc.270G>ASubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.L1652Mc.4954C>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.S3886Sc.11658C>TSubstitution - coding silent
RNF207ENSG00000158286ENST00000377939p.L49Lc.145C>TSubstitution - coding silent
ENST00000356127p.R7726Rc.23178G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L3051Lc.9153G>TSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.V196Ec.587T>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.P932Pc.2796C>TSubstitution - coding silent
SOGA1ENSG00000149639ENST00000279034p.S931Fc.2792C>TSubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.?c.1690-4C>TUnknown
ANKRD36CENSG00000174501ENST00000420871p.F834Vc.2500T>GSubstitution - Missense
AATKENSG00000181409ENST00000326724p.G59Dc.176G>ASubstitution - Missense
ALPK2ENSG00000198796ENST00000361673p.A535Ac.1605C>TSubstitution - coding silent
NM_007023.1p.?c.66-9C>TUnknown
TTC30AENSG00000197557ENST00000355689p.A294Ec.881C>ASubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.R176Rc.528G>ASubstitution - coding silent
OR56B3PENSG00000180913ENST00000316517p.F23Fc.69C>TSubstitution - coding silent
SLC22A24ENSG00000197658ENST00000417740p.L37Lc.111G>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.L2641Lc.7923A>GSubstitution - coding silent
SLC22A15ENSG00000163393ENST00000369503p.F164Lc.492C>ASubstitution - Missense
TBX5ENSG00000089225ENST00000526441p.A11Tc.31G>ASubstitution - Missense
TACR2ENSG00000075073ENST00000373306p.N97delNc.290_292delACADeletion - In frame
VIMENSG00000026025ENST00000544301p.S430Lc.1289C>TSubstitution - Missense
NEBLENSG00000078114ENST00000377122p.K615Kc.1845G>ASubstitution - coding silent
MASTLENSG00000120539ENST00000375946p.S340Sc.1020T>CSubstitution - coding silent
ST5ENSG00000166444ENST00000534127p.K436Kc.1308G>ASubstitution - coding silent
GEMIN2ENSG00000092208ENST00000308317p.L36Lc.106T>CSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.S1321Sc.3963C>TSubstitution - coding silent
ABCG1ENSG00000160179ENST00000398457p.?c.1660-4C>TUnknown
ZNF878ENSG00000257446ENST00000547628p.T250Sc.749C>GSubstitution - Missense
PSMD3ENSG00000108344ENST00000264639p.F220Fc.660C>TSubstitution - coding silent
CDH20ENSG00000101542ENST00000262717p.G142Sc.424G>ASubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.S781Sc.2343C>TSubstitution - coding silent
NM_152536.2p.P269Sc.805C>TSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.L212Lc.636G>TSubstitution - coding silent
ATP13A1ENSG00000105726ENST00000357324p.T913Ic.2738C>TSubstitution - Missense
GKAP1ENSG00000165113ENST00000376371p.R37Qc.110G>ASubstitution - Missense
ENST00000502505_v70p.L58Lc.174C>TSubstitution - coding silent
ECM2ENSG00000106823ENST00000444490p.L390Lc.1168T>CSubstitution - coding silent
PRXENSG00000105227ENST00000324001p.L667Lc.2001C>TSubstitution - coding silent
ENST00000373926p.C260Gc.778T>GSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.E212Kc.634G>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.I1009Ic.3027C>TSubstitution - coding silent
TMTC4ENSG00000125247ENST00000342624p.F426Fc.1278C>TSubstitution - coding silent
KCTD10ENSG00000110906ENST00000228495p.?c.217+1G>AUnknown
INO80ENSG00000128908ENST00000361937p.P1055Sc.3163C>TSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.E85Kc.253G>ASubstitution - Missense
RCVRNENSG00000109047ENST00000226193p.E145Kc.433G>ASubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.Q871fs*80c.2610_2611insTInsertion - Frameshift
DSC3ENSG00000134762ENST00000360428p.E400Kc.1198G>ASubstitution - Missense
ENST00000368148p.G856Ec.2567G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.?c.2140-3T>AUnknown
CNTN5ENSG00000149972ENST00000528682p.P357Pc.1071G>ASubstitution - coding silent
SOHLH2ENSG00000120669ENST00000379881p.P229Pc.687G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.G668Ec.2003G>ASubstitution - Missense
CST8ENSG00000125815ENST00000246012p.L67Lc.199C>TSubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.S131Sc.393C>TSubstitution - coding silent
C9orf131ENSG00000174038ENST00000312292p.Q488Qc.1464G>ASubstitution - coding silent
CACNA1DENSG00000157388ENST00000350061p.M10fs*28c.28_29insAInsertion - Frameshift
MRPL45ENSG00000174100ENST00000312513p.A30Ec.89C>ASubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.G328Gc.984G>ASubstitution - coding silent
LOXHD1ENSG00000167210ENST00000398722p.P506Sc.1516C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T9972Tc.29916G>ASubstitution - coding silent
RFPL2ENSG00000128253ENST00000248980p.V311Vc.933C>TSubstitution - coding silent
GPR45ENSG00000135973ENST00000258456p.G169Sc.505G>ASubstitution - Missense
ENST00000381114p.E1851Kc.5551G>ASubstitution - Missense
ENST00000373108p.D141Nc.421G>ASubstitution - Missense
USP38ENSG00000170185ENST00000307017p.R58Qc.173G>ASubstitution - Missense
TFDP2ENSG00000114126ENST00000489671p.R145Qc.434G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.S822Fc.2465C>TSubstitution - Missense
HSDL2ENSG00000119471ENST00000398805p.A30Vc.89C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.Q1227Qc.3681G>ASubstitution - coding silent
ENST00000316490_v65p.E4221Kc.12661G>ASubstitution - Missense
SLC38A9ENSG00000177058ENST00000539768p.H440Yc.1318C>TSubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.L596Fc.1786C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.E371Kc.1111G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.E806Ec.2418G>ASubstitution - coding silent
KRTAP19-3ENSG00000244025ENST00000334063p.G63Ec.188G>ASubstitution - Missense
GLRX5ENSG00000182512ENST00000331334p.D153Yc.457G>TSubstitution - Missense
CCDC66ENSG00000180376ENST00000436465p.P116Pc.348T>CSubstitution - coding silent
MAGEC3ENSG00000165509ENST00000298296p.D50Nc.148G>ASubstitution - Missense
ENST00000357934p.K314Ec.940A>GSubstitution - Missense
PTPN12ENSG00000127947ENST00000248594p.Q703*c.2107C>TSubstitution - Nonsense
KRT4ENSG00000170477ENST00000293774p.E384Kc.1150G>ASubstitution - Missense
C1orf168ENSG00000187889ENST00000343433p.P316Lc.947C>TSubstitution - Missense
DDX46ENSG00000145833ENST00000354283p.S386Fc.1157C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.S6375Sc.19125C>TSubstitution - coding silent
OR52R1ENSG00000176937ENST00000380382p.T11Tc.33G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000355637p.A37Ac.111C>ASubstitution - coding silent
SYTL1ENSG00000142765ENST00000543823p.R91Rc.273G>ASubstitution - coding silent
DLGAP4ENSG00000080845ENST00000373913p.G357Dc.1070G>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.A455Vc.1364C>TSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.T250Sc.749C>GSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.P292Sc.874C>TSubstitution - Missense
ENST00000316347p.S76Sc.228C>TSubstitution - coding silent
SCML4ENSG00000146285ENST00000369020p.S268Fc.803C>TSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.S917Sc.2751A>GSubstitution - coding silent
CTNNA1ENSG00000044115ENST00000302763p.S515Lc.1544C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.E244Kc.730G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.?c.28-8A>GUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.A778Ac.2334C>TSubstitution - coding silent
HKDC1ENSG00000156510ENST00000354624p.I334Ic.1002C>TSubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.G826Ec.2477G>ASubstitution - Missense
DPAGT1ENSG00000172269ENST00000354202p.P298Sc.892C>TSubstitution - Missense
GRHPRENSG00000137106ENST00000318158p.E128Kc.382G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.S253Fc.758C>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.G193Ec.578G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.K2830Rc.8489A>GSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.R554Rc.1662G>ASubstitution - coding silent
ZBTB37ENSG00000185278ENST00000367702p.Q146Qc.438A>GSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000360610p.?c.2503+7G>TUnknown
ARHGAP20ENSG00000137727ENST00000260283p.?c.106-8A>GUnknown
ENST00000426033p.D2501Ec.7503T>ASubstitution - Missense
ENST00000280576p.S2478Sc.7434C>TSubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.L1652Mc.4954C>ASubstitution - Missense
SHC4ENSG00000185634ENST00000332408p.?c.1304-8C>TUnknown
CAPSLENSG00000152611ENST00000397367p.A12Ac.36G>ASubstitution - coding silent
KIAA0513ENSG00000135709ENST00000258180p.?c.824-10C>TUnknown
CLVS1ENSG00000177182ENST00000325897p.R83Rc.249G>ASubstitution - coding silent
AATKENSG00000181409ENST00000326724p.G59Dc.176G>ASubstitution - Missense
SSH2ENSG00000141298ENST00000269033p.P566Sc.1696C>TSubstitution - Missense
NM_003319p.E5834Kc.17500G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.P784Sc.2350C>TSubstitution - Missense
P4HTMENSG00000178467ENST00000343546p.Y84Yc.252C>TSubstitution - coding silent
NM_001371.1p.E154Kc.460G>ASubstitution - Missense
AK9ENSG00000155085ENST00000424296p.R380Hc.1139G>ASubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.D791Nc.2371G>ASubstitution - Missense
CD300LGENSG00000161649ENST00000317310p.E298Kc.892G>ASubstitution - Missense
ENST00000289630p.F211Fc.633C>TSubstitution - coding silent
PPM1FENSG00000100034ENST00000263212p.Y193*c.579C>GSubstitution - Nonsense
GPR111ENSG00000164393ENST00000398742p.S615Sc.1845C>TSubstitution - coding silent
GPR111ENSG00000164393ENST00000296862p.S683Sc.2049C>TSubstitution - coding silent
AARS2ENSG00000124608ENST00000244571p.N116Nc.348C>TSubstitution - coding silent
ENGENSG00000106991ENST00000344849p.V588Ic.1762G>ASubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.?c.341-10C>TUnknown
ENST00000337072p.?c.1813-4C>AUnknown
CAPN3ENSG00000092529ENST00000318023p.?c.1783-6C>TUnknown
ENGENSG00000106991ENST00000373203p.V588Ic.1762G>ASubstitution - Missense
COBLENSG00000106078ENST00000395542p.F1155Fc.3465C>TSubstitution - coding silent
NTRK1ENSG00000198400ENST00000392302p.V384Mc.1150G>ASubstitution - Missense
PPP1R21ENSG00000162869ENST00000281394p.H659Yc.1975C>TSubstitution - Missense
HHATLENSG00000010282ENST00000310417p.W409*c.1226G>ASubstitution - Nonsense
C22orf42ENSG00000205856ENST00000382097p.S189Ic.566G>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.L885Lc.2655G>TSubstitution - coding silent
CDK11BENSG00000248333ENST00000407249p.I129Vc.385A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.V3237Fc.9709G>TSubstitution - Missense
NM_018979p.L640Pc.1919T>CSubstitution - Missense
RBM14ENSG00000239306ENST00000310137p.D589Ec.1767C>GSubstitution - Missense
COL13A1ENSG00000197467ENST00000398978p.R257Wc.769C>TSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.E1002Kc.3004G>ASubstitution - Missense
CFHENSG00000000971ENST00000367429p.L827Lc.2481G>ASubstitution - coding silent
KCNT2ENSG00000162687ENST00000294725p.L646Fc.1936C>TSubstitution - Missense
CHI3L2ENSG00000064886ENST00000369748p.?c.481-1G>TUnknown
NIPBLENSG00000164190ENST00000448238p.K1034Ec.3100A>GSubstitution - Missense
ARHGAP40ENSG00000124143ENST00000373345p.T539Tc.1617C>TSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.V246Vc.738T>CSubstitution - coding silent
KATNAL2ENSG00000167216ENST00000245121p.?c.432+10G>AUnknown
ENST00000411420p.D81Nc.241G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.V926Lc.2776G>CSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.R1087Kc.3260G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.P1679Ac.5035C>GSubstitution - Missense
ENST00000373108p.G223Sc.667G>ASubstitution - Missense
NM_021998.2p.D284Nc.850G>ASubstitution - Missense
ACBD4ENSG00000181513ENST00000431281p.V22Ic.64G>ASubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.G512Ec.1535G>ASubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.I101Ic.303C>TSubstitution - coding silent
ENST00000406302p.G147Rc.439G>ASubstitution - Missense
DENND5BENSG00000170456ENST00000306833p.Q687Qc.2061G>ASubstitution - coding silent
CTNND1ENSG00000198561ENST00000399050p.T402Sc.1205C>GSubstitution - Missense
PDXDC1ENSG00000179889ENST00000455313p.A23Tc.67G>ASubstitution - Missense
TP63ENSG00000073282ENST00000354600p.P445Lc.1334C>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000358359p.N919Yc.2755A>TSubstitution - Missense
PABPC3ENSG00000151846ENST00000281589p.R94Qc.281G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.S43Fc.128C>TSubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.W808*c.2423G>ASubstitution - Nonsense
XM_497119.1p.D3502Ec.10506C>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.W3211Gc.9631T>GSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.S396Fc.1187C>TSubstitution - Missense
ZNF215ENSG00000149054ENST00000278319p.S331Fc.992C>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.T1675Mc.5024C>TSubstitution - Missense
COL13A1ENSG00000197467ENST00000398969p.R240Wc.718C>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.I2476Ic.7428C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.S1321Sc.3963C>TSubstitution - coding silent
ITGA11ENSG00000137809ENST00000315757p.K514Kc.1542G>ASubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.Q178Qc.534G>ASubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.P932Pc.2796C>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.A198Ac.594G>ASubstitution - coding silent
KBTBD8ENSG00000163376ENST00000295568p.V360Vc.1080C>TSubstitution - coding silent
SLC39A14ENSG00000104635ENST00000359741p.S194Sc.582C>TSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000413728p.A461Vc.1382C>TSubstitution - Missense
CHMP3ENSG00000115561ENST00000263856p.E203Kc.607G>ASubstitution - Missense
KANK2ENSG00000197256ENST00000355150p.I521Ic.1563C>TSubstitution - coding silent
CA13ENSG00000185015ENST00000321764p.S167Fc.500C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P4565Pc.13695G>ASubstitution - coding silent
RFPL2ENSG00000128253ENST00000400236p.V282Vc.846C>TSubstitution - coding silent
HIF3AENSG00000124440ENST00000377670p.A158Tc.472G>ASubstitution - Missense
ZDHHC15ENSG00000102383ENST00000373367p.S303Tc.907T>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.L3594Lc.10782G>ASubstitution - coding silent
PREPLENSG00000138078ENST00000260648p.I110Ic.330C>TSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.C972Yc.2915G>ASubstitution - Missense
SU_CDKL4p.?c.652+3A>GUnknown
ADAMTSL2ENSG00000197859ENST00000354484p.A669Ac.2007C>TSubstitution - coding silent
TANC1ENSG00000115183ENST00000263635p.L498Vc.1492C>GSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.E1273Kc.3817G>ASubstitution - Missense
PLTPENSG00000100979ENST00000372431p.E211Qc.631G>CSubstitution - Missense
RNF220ENSG00000187147ENST00000443020p.Q292Hc.876G>TSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.V651Vc.1953G>ASubstitution - coding silent
CLYBLENSG00000125246ENST00000425186p.R42Lc.125G>TSubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.?c.1801-6C>TUnknown
ATG2AENSG00000110046ENST00000377264p.P855Lc.2564C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.S1045Fc.3134C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.P1552Lc.4655C>TSubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.T1063Tc.3189C>TSubstitution - coding silent
MYL1ENSG00000168530ENST00000352451p.R92Rc.276G>ASubstitution - coding silent
CACNA2D3ENSG00000157445ENST00000474759p.D646Nc.1936G>ASubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.K585Ec.1753A>GSubstitution - Missense
ENST00000356127p.L23457Lc.70371G>ASubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.N1510Nc.4530C>TSubstitution - coding silent
WNT7BENSG00000188064ENST00000339464p.E265Kc.793G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G414Rc.1240G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.D1445Nc.4333G>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.M1598Ic.4794G>ASubstitution - Missense
OR51I2ENSG00000187918ENST00000341449p.V135Vc.405G>TSubstitution - coding silent
ACBD5ENSG00000107897ENST00000375888p.D227Nc.679G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.P591Sc.1771C>TSubstitution - Missense
CAPZA3ENSG00000177938ENST00000317658p.L34Fc.100C>TSubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.P654Sc.1960C>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.G1115Rc.3343G>ASubstitution - Missense
MYOZ3ENSG00000164591ENST00000297130p.P167Sc.499C>TSubstitution - Missense
EIF3MENSG00000149100ENST00000531120p.L164Fc.490C>TSubstitution - Missense
CNTNAP3ENSG00000106714ENST00000297668p.P316Lc.947C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.R3630Cc.10888C>TSubstitution - Missense
OR10A2ENSG00000170790ENST00000307322p.P154Sc.460C>TSubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.E185Kc.553G>ASubstitution - Missense
NUAK2ENSG00000163545ENST00000367157p.H322Hc.966C>TSubstitution - coding silent
DENND5BENSG00000170456ENST00000389082p.Q652Qc.1956G>ASubstitution - coding silent
TMEM255BENSG00000184497ENST00000375353p.M223Tc.668T>CSubstitution - Missense
NM_175739.2p.F71Fc.213C>TSubstitution - coding silent
INADLENSG00000132849ENST00000371158p.Y559Fc.1676A>TSubstitution - Missense
NM_006192.1p.?c.777+9G>AUnknown
NCOR1ENSG00000141027ENST00000268712p.R2118Sc.6354G>TSubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.P116Pc.348T>CSubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.S131Sc.393C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.?c.10040-7C>TUnknown
C16orf71ENSG00000166246ENST00000299320p.D335Nc.1003G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E6026Kc.18076G>ASubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.L104Pc.311T>CSubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.P81Lc.242C>TSubstitution - Missense
MAP7ENSG00000135525ENST00000354570p.G168Ec.503G>ASubstitution - Missense
SLC9A5ENSG00000135740ENST00000299798p.V380Vc.1140C>TSubstitution - coding silent
LFNGENSG00000106003ENST00000402045p.L84Lc.250C>TSubstitution - coding silent
ENST00000298728p.C1227Cc.3681C>TSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.Y905Cc.2714A>GSubstitution - Missense
CFTRENSG00000001626ENST00000003084p.?c.1393-4C>TUnknown
ENST00000316490_v65p.R2539Qc.7616G>ASubstitution - Missense
PDE1CENSG00000154678ENST00000396193p.I190Ic.570C>TSubstitution - coding silent
C15orf39ENSG00000167173ENST00000567617p.F651Fc.1953C>TSubstitution - coding silent
CCDC64ENSG00000135127ENST00000257583p.R236Rc.708G>ASubstitution - coding silent
PNPLA1ENSG00000180316ENST00000457797p.S389Lc.1166C>TSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.D362Nc.1084G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.M719Ic.2157G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.S5Fc.14C>TSubstitution - Missense
BMFENSG00000104081ENST00000354670p.M1Ic.3G>ASubstitution - Missense
NHSENSG00000188158ENST00000398097p.S1306Yc.3917C>ASubstitution - Missense
DCCENSG00000187323ENST00000442544p.D1177Nc.3529G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000515401p.P191Lc.572C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.L4776Sc.14327T>CSubstitution - Missense
PIWIL2ENSG00000197181ENST00000356766p.G816Rc.2446G>ASubstitution - Missense
SLC10A2ENSG00000125255ENST00000245312p.S177Fc.530C>TSubstitution - Missense
GPATCH2ENSG00000092978ENST00000366935p.E257Qc.769G>CSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.C484Cc.1452T>CSubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.T679Nc.2036C>ASubstitution - Missense
DNASE1L3ENSG00000163687ENST00000394549p.I165Ic.495C>TSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.E674Ec.2022G>ASubstitution - coding silent
ENST00000356127p.P10937Pc.32811G>ASubstitution - coding silent
GPR34ENSG00000171659ENST00000378142p.K379Ec.1135A>GSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.M346Ic.1038G>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.?c.2632-5C>TUnknown
SNRKENSG00000163788ENST00000454177p.R638Pc.1913G>CSubstitution - Missense
ENST00000369020_v68p.S297Fc.890C>TSubstitution - Missense
UBTFENSG00000108312ENST00000302904p.G706Gc.2118C>TSubstitution - coding silent
HAP1ENSG00000173805ENST00000347901p.A133Ac.399C>TSubstitution - coding silent
RAB11FIP4ENSG00000131242ENST00000325874p.S244Sc.732G>ASubstitution - coding silent
CAPN11ENSG00000137225ENST00000398776p.D495Nc.1483G>ASubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.R309Qc.926G>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.P255Sc.763C>TSubstitution - Missense
MAP4K4ENSG00000071054ENST00000350198p.I130Ic.390C>TSubstitution - coding silent
CST9LENSG00000101435ENST00000376979p.L25Lc.75G>ASubstitution - coding silent
LSSENSG00000160285ENST00000397728p.V537Mc.1609G>ASubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.G222Wc.664G>TSubstitution - Missense
GPSM2ENSG00000121957ENST00000406462p.R563Sc.1689G>CSubstitution - Missense
LMAN1ENSG00000074695ENST00000251047p.W104Lc.311G>TSubstitution - Missense
TAF12ENSG00000120656ENST00000263974p.K160Rc.479A>GSubstitution - Missense
ANGPT2ENSG00000091879ENST00000325203p.I401Lc.1201A>CSubstitution - Missense
SLC39A14ENSG00000104635ENST00000359741p.S194Cc.581C>GSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.P230Sc.688C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.G187Ec.560G>ASubstitution - Missense
ENST00000349637p.G187Ec.560G>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.V651Vc.1953G>ASubstitution - coding silent
CYP27B1ENSG00000111012ENST00000228606p.R389Hc.1166G>ASubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.G5Rc.13G>CSubstitution - Missense
ENST00000398860p.Y1753Nc.5257T>ASubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.S1045Fc.3134C>TSubstitution - Missense
PDXDC1ENSG00000179889ENST00000396410p.A23Tc.67G>ASubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.K1034Ec.3100A>GSubstitution - Missense
TLE3ENSG00000140332ENST00000558939p.P446Sc.1336C>TSubstitution - Missense
BCAS4ENSG00000124243ENST00000371608p.E182Kc.544G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.?c.53-8C>TUnknown
ENST00000436173p.T2010Ic.6029C>TSubstitution - Missense
RCAN1ENSG00000159200ENST00000313806p.I239Ic.717C>TSubstitution - coding silent
RCAN1ENSG00000159200ENST00000381132p.I184Ic.552C>TSubstitution - coding silent
GSDMBENSG00000073605ENST00000418519p.R35Cc.103C>TSubstitution - Missense
NM_003319p.T9780Tc.29340G>ASubstitution - coding silent
GATA6ENSG00000141448ENST00000269216p.C465Gc.1393T>GSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.D445Dc.1335C>TSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.S396Sc.1188C>TSubstitution - coding silent
PEX13ENSG00000162928ENST00000295030p.P235Pc.705A>GSubstitution - coding silent
ZKSCAN7ENSG00000196345ENST00000273320p.P690Pc.2070C>TSubstitution - coding silent
COL9A1ENSG00000112280ENST00000320755p.P255Sc.763C>TSubstitution - Missense
THUMPD2ENSG00000138050ENST00000454352p.L200Lc.598T>CSubstitution - coding silent
PDGFRBENSG00000113721ENST00000261799p.R439Rc.1317G>ASubstitution - coding silent
NFAT5ENSG00000102908ENST00000432919p.T984Tc.2952T>GSubstitution - coding silent
WISP2ENSG00000064205ENST00000372868p.P40Pc.120G>TSubstitution - coding silent
OR52B6ENSG00000187747ENST00000345043p.N329Nc.987T>CSubstitution - coding silent
TRIM39ENSG00000204599ENST00000540416p.R102Wc.304C>TSubstitution - Missense
SERPING1ENSG00000149131ENST00000278407p.S150Sc.450C>TSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000547372p.A60Ac.180C>ASubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.P577Lc.1730C>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.R280Qc.839G>ASubstitution - Missense
GALNT15ENSG00000131386ENST00000339732p.A271Pc.811G>CSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.V1663Ec.4988T>ASubstitution - Missense
TAS2R7ENSG00000121377ENST00000240687p.I62Ic.186A>TSubstitution - coding silent
ENST00000372234p.E324Ec.972G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.D1452Gc.4355A>GSubstitution - Missense
ENST00000377653p.P228Lc.683C>TSubstitution - Missense
USP29ENSG00000131864ENST00000254181p.S308Fc.923C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.S1202Fc.3605C>TSubstitution - Missense
FATE1ENSG00000147378ENST00000370350p.W158*c.474G>ASubstitution - Nonsense
ATG7ENSG00000197548ENST00000354449p.F502Lc.1504T>CSubstitution - Missense
ASNSD1ENSG00000138381ENST00000260952p.G470Rc.1408G>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.T1008Tc.3024G>ASubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.P1091Ac.3271C>GSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.?c.2648-3C>TUnknown
NLRP14ENSG00000158077ENST00000299481p.L1001Pc.3002T>CSubstitution - Missense
ENSG00000189275ENST00000341866p.R6Kc.17G>ASubstitution - Missense
KDM4EENSG00000235268ENST00000450979p.H189Qc.567C>GSubstitution - Missense
FIBINENSG00000176971ENST00000318627p.D42Nc.124G>ASubstitution - Missense
KSR2ENSG00000171435ENST00000302438p.F422Fc.1266C>TSubstitution - coding silent
KIAA1324ENSG00000116299ENST00000369939p.?c.803-6C>TUnknown
USP5ENSG00000111667ENST00000389231p.R651Cc.1951C>TSubstitution - Missense
GNAT2ENSG00000134183ENST00000351050p.A5Vc.14C>TSubstitution - Missense
ZNF812ENSG00000224689ENST00000457674p.P12Sc.34C>TSubstitution - Missense
INADLENSG00000132849ENST00000371158p.E1793Ec.5379G>ASubstitution - coding silent
C9orf3ENSG00000148120ENST00000297979p.K350Ec.1048A>GSubstitution - Missense
TBC1D17ENSG00000104946ENST00000221543p.P257Pc.771C>TSubstitution - coding silent
CPSF1ENSG00000071894ENST00000349769p.S1217Sc.3651C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.E5959Kc.17875G>ASubstitution - Missense
TTC30BENSG00000196659ENST00000408939p.A294Ec.881C>ASubstitution - Missense
NM_003319p.P4440Pc.13320G>ASubstitution - coding silent
MRPL33ENSG00000243147ENST00000379666p.N31Nc.93C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.N4419Nc.13257C>TSubstitution - coding silent
XM_098980.6p.K469Kc.1407G>ASubstitution - coding silent
CCDC170ENSG00000120262ENST00000239374p.?c.774+5G>AUnknown
ZNF142ENSG00000115568ENST00000411696p.K207Qc.619A>CSubstitution - Missense
A4GNTENSG00000118017ENST00000236709p.R302Tc.905G>CSubstitution - Missense
CASTENSG00000153113ENST00000309190p.?c.1518+8C>TUnknown
DSPENSG00000096696ENST00000379802p.D575Dc.1725T>CSubstitution - coding silent
NRXN1ENSG00000179915ENST00000406316p.M727Ic.2181G>ASubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.T493Rc.1478C>GSubstitution - Missense
OBP2BENSG00000171102ENST00000372034p.?c.206+10G>AUnknown
PCDHA6ENSG00000081842ENST00000529310p.F211Fc.633C>TSubstitution - coding silent
GRIA1ENSG00000155511ENST00000285900p.K196Kc.588G>ASubstitution - coding silent
INHBAENSG00000122641ENST00000242208p.H289Yc.865C>TSubstitution - Missense
PDE1CENSG00000154678ENST00000396191p.I130Ic.390C>TSubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
HIPK2ENSG00000064393ENST00000342645p.M635Ic.1905G>CSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.R1625Cc.4873C>TSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.P1055Sc.3163C>TSubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.Q176*c.526C>TSubstitution - Nonsense
NF1ENSG00000196712ENST00000358273p.Q1174*c.3520C>TSubstitution - Nonsense
RGS7ENSG00000182901ENST00000407727p.R44Cc.130C>TSubstitution - Missense
CASC1ENSG00000118307ENST00000354189p.A76Vc.227C>TSubstitution - Missense
ENST00000394167p.Q164*c.490C>TSubstitution - Nonsense
PLCXD3ENSG00000182836ENST00000377801p.G124Dc.371G>ASubstitution - Missense
OR51B4ENSG00000183251ENST00000380224p.R302Cc.904C>TSubstitution - Missense
IKZF4ENSG00000123411ENST00000262032p.P83Sc.247C>TSubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.?c.3270+10G>TUnknown
OR8S1ENSG00000197376ENST00000310194p.V214Vc.642C>ASubstitution - coding silent
ZIC2ENSG00000043355ENST00000376335p.G359Gc.1077G>ASubstitution - coding silent
SYVN1ENSG00000162298ENST00000377190p.D97Dc.291T>CSubstitution - coding silent
SLC22A15ENSG00000163393ENST00000369503p.F164Lc.492C>ASubstitution - Missense
TBX5ENSG00000089225ENST00000310346p.A11Tc.31G>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.P877Lc.2630C>TSubstitution - Missense
ENST00000322367p.S856Sc.2568C>TSubstitution - coding silent
NUAK2ENSG00000163545ENST00000367157p.H322Hc.966C>TSubstitution - coding silent
ENST00000456228p.T175Tc.525C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.L30Pc.89T>CSubstitution - Missense
FAM83GENSG00000188522ENST00000345041p.R508Wc.1522C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.S1486Sc.4458C>TSubstitution - coding silent
DDX21ENSG00000165732ENST00000354185p.F154Lc.460T>CSubstitution - Missense
SYTL1ENSG00000142765ENST00000318074p.R91Rc.273G>ASubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.L762Lc.2284C>TSubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.L762Lc.2284C>TSubstitution - coding silent
PLXDC1ENSG00000161381ENST00000315392p.?c.400-8C>TUnknown
CCDC137ENSG00000185298ENST00000329214p.Q143fs*27c.428_438>TComplex - frameshift
KRT12ENSG00000187242ENST00000251643p.G106Rc.316G>ASubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.P1045Sc.3133C>TSubstitution - Missense
ABRACLENSG00000146386ENST00000367660p.V70Gc.209T>GSubstitution - Missense
PACSIN2ENSG00000100266ENST00000402229p.Y388Yc.1164C>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.S899Ic.2696G>TSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.I947Lc.2839A>CSubstitution - Missense
HIF3AENSG00000124440ENST00000420102p.A107Tc.319G>ASubstitution - Missense
CCDC9ENSG00000105321ENST00000221922p.W321Lc.962G>TSubstitution - Missense
NANOS2ENSG00000188425ENST00000341294p.R125Cc.373C>TSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.S2635Yc.7904C>ASubstitution - Missense
SOX14ENSG00000168875ENST00000306087p.R10Pc.29G>CSubstitution - Missense
FKBP1CENSG00000198225ENST00000356170p.T22Nc.65C>ASubstitution - Missense
SRD5A1ENSG00000145545ENST00000274192p.G208Ac.623G>CSubstitution - Missense
TRPV5ENSG00000127412ENST00000265310p.G79Gc.237G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.?c.2976+9C>TUnknown
METTL9ENSG00000197006ENST00000358154p.N268Tc.803A>CSubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.P112Sc.334C>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.G42Rc.124G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.E212Kc.634G>ASubstitution - Missense
POF1BENSG00000124429ENST00000373145p.E299Kc.895G>ASubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.E1118Kc.3352G>ASubstitution - Missense
ENST00000356067p.K292Ec.874A>GSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.R324Kc.971G>ASubstitution - Missense
CYP19A1ENSG00000137869ENST00000396402p.I16Ic.48C>TSubstitution - coding silent
OR13G1ENSG00000197437ENST00000359688p.T164Ic.491C>TSubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.S2599Lc.7796C>TSubstitution - Missense
PEX2ENSG00000164751ENST00000357039p.S3Fc.8C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K2830Rc.8489A>GSubstitution - Missense
CDO1ENSG00000129596ENST00000250535p.P110Rc.329C>GSubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.P341Sc.1021C>TSubstitution - Missense
MGMTENSG00000170430ENST00000306010p.P155Lc.464C>TSubstitution - Missense
B4GALNT1ENSG00000135454ENST00000341156p.P144Pc.432G>ASubstitution - coding silent
POLEENSG00000177084ENST00000320574p.P282Sc.844C>TSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.G355Rc.1063G>ASubstitution - Missense
KDM4EENSG00000235268ENST00000450979p.H189Qc.567C>GSubstitution - Missense
MTMR10ENSG00000166912ENST00000435680p.R605Kc.1814G>ASubstitution - Missense
ENST00000398860p.G1374Dc.4121G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.L3051Lc.9153G>TSubstitution - coding silent
FN1ENSG00000115414ENST00000354785p.V196Ec.587T>ASubstitution - Missense
YWHAEENSG00000108953ENST00000264335p.L93Lc.279A>GSubstitution - coding silent
TRIM55ENSG00000147573ENST00000315962p.R480Rc.1440G>ASubstitution - coding silent
KBTBD8ENSG00000163376ENST00000417314p.V386Vc.1158C>TSubstitution - coding silent
GABBR2ENSG00000136928ENST00000259455p.I399Ic.1197C>TSubstitution - coding silent
WDR4ENSG00000160193ENST00000398208p.P396Lc.1187C>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.D633Nc.1897G>ASubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.?c.2222-9C>TUnknown
BIRC6ENSG00000115760ENST00000421745p.V926Lc.2776G>CSubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.M90Ic.270G>ASubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.S896Tc.2687G>CSubstitution - Missense
SDHAENSG00000073578ENST00000264932p.D275Hc.823G>CSubstitution - Missense
NM_181334.1p.?c.408-10C>TUnknown
DPCR1ENSG00000168631ENST00000462446p.S817Lc.2450C>TSubstitution - Missense
CEP135ENSG00000174799ENST00000257287p.D807Nc.2419G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.L41Lc.123G>ASubstitution - coding silent
AHRRENSG00000063438ENST00000316418p.T321Tc.963C>TSubstitution - coding silent
MYL1ENSG00000168530ENST00000341685p.R48Rc.144G>ASubstitution - coding silent
SRGAP3ENSG00000196220ENST00000360413p.E909Kc.2725G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000423696p.T1295Mc.3884C>TSubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.?c.341-10C>TUnknown
KSR2ENSG00000171435ENST00000339824p.F725Fc.2175C>TSubstitution - coding silent
ACAD10ENSG00000111271ENST00000455480p.R865Cc.2593C>TSubstitution - Missense
DENND5BENSG00000170456ENST00000354285p.Q674Qc.2022G>ASubstitution - coding silent
ADARENSG00000160710ENST00000292205p.A511Tc.1531G>ASubstitution - Missense
CDK11BENSG00000248333ENST00000317673p.D134Gc.401A>GSubstitution - Missense
C1orf110ENSG00000185860ENST00000367911p.P85Pc.255A>GSubstitution - coding silent
ACTN2ENSG00000077522ENST00000542672p.R852Wc.2554C>TSubstitution - Missense
GPATCH2ENSG00000092978ENST00000366934p.E257Qc.769G>CSubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.D140Ec.420C>ASubstitution - Missense
SHC4ENSG00000185634ENST00000396535p.?c.575-8C>TUnknown
CLEC16AENSG00000038532ENST00000409552p.M376Vc.1126A>GSubstitution - Missense
NBR1ENSG00000188554ENST00000389312p.V828Ic.2482G>ASubstitution - Missense
HAP1ENSG00000173805ENST00000310778p.A133Ac.399C>TSubstitution - coding silent
ABCA8ENSG00000141338ENST00000430352p.E488Kc.1462G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.M90Ic.270G>ASubstitution - Missense
USP6ENSG00000129204ENST00000304328p.R721Cc.2161C>TSubstitution - Missense
KANK2ENSG00000197256ENST00000432929p.I529Ic.1587C>TSubstitution - coding silent
ZCCHC2ENSG00000141664ENST00000269499p.?c.1128+6C>AUnknown
UPF1ENSG00000005007ENST00000599848p.I994Ic.2982C>TSubstitution - coding silent
ENST00000397439_v70p.E184Kc.550G>ASubstitution - Missense
PRXENSG00000105227ENST00000324001p.P534Pc.1602A>GSubstitution - coding silent
PRXENSG00000105227ENST00000324001p.K524Kc.1572A>GSubstitution - coding silent
ETV2ENSG00000105672ENST00000402764p.P160Pc.480C>GSubstitution - coding silent
PLTPENSG00000100979ENST00000542937p.E231Qc.691G>CSubstitution - Missense
WISP2ENSG00000064205ENST00000372865p.P40Pc.120G>TSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381285p.V1001Ic.3001G>ASubstitution - Missense
RCAN1ENSG00000159200ENST00000381135p.I229Ic.687C>TSubstitution - coding silent
PLCB1ENSG00000182621ENST00000404098p.F134Fc.402C>TSubstitution - coding silent
MAP4K4ENSG00000071054ENST00000350878p.I110Ic.330C>TSubstitution - coding silent
RAPGEF4ENSG00000091428ENST00000264111p.?c.66-9C>TUnknown
FN1ENSG00000115414ENST00000426059p.V196Ec.587T>ASubstitution - Missense
CDKL4ENSG00000205111ENST00000378803p.?c.652+3A>GUnknown
ANKMY1ENSG00000144504ENST00000405523p.L171Fc.511C>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.L786Lc.2356C>TSubstitution - coding silent
GRM7ENSG00000196277ENST00000357716p.G886Dc.2657G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.G886Dc.2657G>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000398972p.R257Wc.769C>TSubstitution - Missense
ENST00000499676_v70p.R84Qc.251G>ASubstitution - Missense
CASTENSG00000153113ENST00000338252p.?c.1545+8C>TUnknown
CASTENSG00000153113ENST00000395813p.?c.1833+8C>TUnknown
EHMT2ENSG00000204371ENST00000395728p.G99Rc.295G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.L98Lc.294G>ASubstitution - coding silent
TRIM39ENSG00000204599ENST00000540416p.I101Ic.303C>TSubstitution - coding silent
COL21A1ENSG00000124749ENST00000535941p.S822Fc.2465C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.L1678Ic.5032T>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.V198Ac.593T>CSubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.V198Ac.593T>CSubstitution - Missense
SLC45A4ENSG00000022567ENST00000517878p.L213Lc.637C>TSubstitution - coding silent
SYBUENSG00000147642ENST00000422135p.P521Sc.1561C>TSubstitution - Missense
CNTNAP3ENSG00000106714ENST00000358144p.P228Lc.683C>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.Q440Qc.1320G>ASubstitution - coding silent
TPTE2ENSG00000132958ENST00000390680p.E262Kc.784G>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000524377p.V420Mc.1258G>ASubstitution - Missense
TCTN1ENSG00000204852ENST00000551590p.P223Sc.667C>TSubstitution - Missense
STC2ENSG00000113739ENST00000265087p.W290*c.869G>ASubstitution - Nonsense
CARFENSG00000138380ENST00000320443p.S37Fc.110C>TSubstitution - Missense
ANGPT2ENSG00000091879ENST00000325203p.I401Lc.1201A>CSubstitution - Missense
C15orf39ENSG00000167173ENST00000360639p.F651Fc.1953C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.P682Ac.2044C>GSubstitution - Missense
ENST00000368148p.E1587Gc.4760A>GSubstitution - Missense
TMTC4ENSG00000125247ENST00000342624p.G610Ec.1829G>ASubstitution - Missense
MTUS2ENSG00000132938ENST00000380808p.L124Lc.372C>TSubstitution - coding silent
NMUR2ENSG00000132911ENST00000255262p.E295Dc.885G>TSubstitution - Missense
ENST00000544403p.K196Kc.588G>ASubstitution - coding silent
TRIM27ENSG00000204713ENST00000377199p.H507Yc.1519C>TSubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.I101Ic.303C>TSubstitution - coding silent
TRIM39ENSG00000204599ENST00000376656p.R102Wc.304C>TSubstitution - Missense
TRIM26ENSG00000234127ENST00000454678p.?c.905-8C>TUnknown
TRIM26ENSG00000234127ENST00000453195p.?c.905-8C>TUnknown
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
GTF2H4ENSG00000213780ENST00000453897p.G127Rc.379G>CSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.V198Ac.593T>CSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.E71Kc.211G>ASubstitution - Missense
COBLENSG00000106078ENST00000265136p.F1073Fc.3219C>TSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.G1952Gc.5856G>TSubstitution - coding silent
PABPC1ENSG00000070756ENST00000318607p.D17Dc.51C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.Q1209Qc.3627G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.Q1023Qc.3069G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.Q1023Qc.3069G>ASubstitution - coding silent
NFAT5ENSG00000102908ENST00000393742p.T890Tc.2670T>GSubstitution - coding silent
ENST00000316490p.R2491Qc.7472G>ASubstitution - Missense
ENST00000316490p.E4173Kc.12517G>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.G795Sc.2383G>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.G795Sc.2383G>ASubstitution - Missense
CASKIN1ENSG00000167971ENST00000343516p.P714Lc.2141C>TSubstitution - Missense
ENST00000382453p.P543Lc.1628C>TSubstitution - Missense
CASKIN1ENSG00000167971ENST00000343516p.P714Sc.2140C>TSubstitution - Missense
ENST00000382453p.P543Sc.1627C>TSubstitution - Missense
SLC5A11ENSG00000158865ENST00000347898p.E255Kc.763G>ASubstitution - Missense
CLEC17AENSG00000187912ENST00000417570p.E201Kc.601G>ASubstitution - Missense
PSG11ENSG00000243130ENST00000401740p.I109Ic.327C>TSubstitution - coding silent
ACTR5ENSG00000101442ENST00000243903p.I237Vc.709A>GSubstitution - Missense
CWH43ENSG00000109182ENST00000226432p.Q656Kc.1966C>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.?c.2976+9C>TUnknown
PRPS1L1ENSG00000229937ENST00000506618p.H315Lc.944A>TSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.H315Lc.944A>TSubstitution - Missense
ENSG00000258417ENST00000262283p.P142Lc.425C>TSubstitution - Missense
HHLA1ENSG00000132297ENST00000414222p.P400Lc.1199C>TSubstitution - Missense
SLC45A4ENSG00000022567ENST00000024061p.L162Lc.484C>TSubstitution - coding silent
NR5A1ENSG00000136931ENST00000373588p.?c.990+10C>TUnknown
NR5A1ENSG00000136931ENST00000373587p.?c.342+10C>TUnknown
OR1L3ENSG00000171481ENST00000304820p.F62Fc.186C>TSubstitution - coding silent
ANGPTL2ENSG00000136859ENST00000373425p.N300Sc.899A>GSubstitution - Missense
DOLPP1ENSG00000167130ENST00000372546p.L149Lc.445C>TSubstitution - coding silent
FETUBENSG00000090512ENST00000265029p.Q198Qc.594G>ASubstitution - coding silent
LCP2ENSG00000043462ENST00000046794p.?c.622-7T>CUnknown
LCP2ENSG00000043462ENST00000046794p.?c.622-7T>CUnknown
AHRRENSG00000063438ENST00000316418p.T321Ic.962C>TSubstitution - Missense
C4AENSG00000244731ENST00000428956p.S893Fc.2678C>TSubstitution - Missense
C4AENSG00000244731ENST00000428956p.S893Fc.2678C>TSubstitution - Missense
TFAP2BENSG00000008196ENST00000393655p.G444Gc.1332G>ASubstitution - coding silent
GRM7ENSG00000196277ENST00000357716p.S253Fc.758C>TSubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.S253Fc.758C>TSubstitution - Missense
TCTN1ENSG00000204852ENST00000397655p.P223Sc.667C>TSubstitution - Missense
CACUL1ENSG00000151893ENST00000340214p.L148Ic.442T>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000356340p.R257Wc.769C>TSubstitution - Missense
BLNKENSG00000095585ENST00000427367p.P192Tc.574C>ASubstitution - Missense
OR4C12ENSG00000221954ENST00000335238p.L141Lc.423C>TSubstitution - coding silent
OR52H1ENSG00000181616ENST00000322653p.L138Lc.414G>ASubstitution - coding silent
OR9G4ENSG00000172457ENST00000302957p.G219Sc.655G>ASubstitution - Missense
TRIM34ENSG00000258659ENST00000514226p.?c.751-4C>AUnknown
OR5T2ENSG00000181718ENST00000313264p.D160Yc.478G>TSubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.N214Nc.642T>CSubstitution - coding silent
OR5AS1ENSG00000181785ENST00000313555p.L319Fc.957A>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000361391p.T402Sc.1205C>GSubstitution - Missense
PRG2ENSG00000186652ENST00000311862p.G72Rc.214G>ASubstitution - Missense
AUTS2ENSG00000158321ENST00000403018p.S82*c.245C>ASubstitution - Nonsense
EHMT1ENSG00000181090ENST00000460843p.C1258Cc.3774C>TSubstitution - coding silent
UPF1ENSG00000005007ENST00000262803p.I983Ic.2949C>TSubstitution - coding silent
ENST00000344519_v68p.E478Kc.1432G>ASubstitution - Missense
HIF3AENSG00000124440ENST00000300862p.A156Tc.466G>ASubstitution - Missense
TULP2ENSG00000104804ENST00000221399p.R325Sc.975A>CSubstitution - Missense
CA11ENSG00000063180ENST00000084798p.A58Ac.174G>ASubstitution - coding silent
POTEIENSG00000196834ENST00000451531p.D48Nc.142G>ASubstitution - Missense
ENST00000451531_v68p.D48Nc.142G>ASubstitution - Missense
FBLN2ENSG00000163520ENST00000404922p.I366Lc.1096A>CSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.L640Lc.1920G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.L687Lc.2061G>ASubstitution - coding silent
FSTL4ENSG00000053108ENST00000265342p.S56Fc.167C>TSubstitution - Missense
ZNF711ENSG00000147180ENST00000373165p.D304Nc.910G>ASubstitution - Missense
POF1BENSG00000124429ENST00000262753p.E299Kc.895G>ASubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.N135Ic.404A>TSubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.T1703Ac.5107A>GSubstitution - Missense
AK9ENSG00000155085ENST00000285397p.R380Hc.1139G>ASubstitution - Missense
SYCP2LENSG00000153157ENST00000283141p.R60Gc.178C>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.S822Fc.2465C>TSubstitution - Missense
XM_059776.6p.T59Nc.176C>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.P498Sc.1492C>TSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.P518Sc.1552C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.G374Rc.1120G>ASubstitution - Missense
GABBR2ENSG00000136928ENST00000259455p.A116Ac.348C>TSubstitution - coding silent
ENPP2ENSG00000136960ENST00000259486p.I901Ic.2703C>TSubstitution - coding silent
ENPP2ENSG00000136960ENST00000522826p.I874Ic.2622C>TSubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.P331Pc.993C>ASubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.P331Pc.993C>ASubstitution - coding silent
NIPSNAP3BENSG00000165028ENST00000374762p.?c.61-6C>TUnknown
SVEP1ENSG00000165124ENST00000401783p.P591Sc.1771C>TSubstitution - Missense
EPB41L4BENSG00000095203ENST00000374566p.P653Tc.1957C>ASubstitution - Missense
THEMISENSG00000172673ENST00000368248p.R324Kc.971G>ASubstitution - Missense
ENST00000432934p.Q333Qc.999G>ASubstitution - coding silent
ENST00000237177p.P1001Sc.3001C>TSubstitution - Missense
LEPREL4ENSG00000141696ENST00000355468p.R229Wc.685C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.M767Ic.2301G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.M767Ic.2301G>ASubstitution - Missense
FSHRENSG00000170820ENST00000406846p.?c.524+4A>CUnknown
NBR1ENSG00000188554ENST00000422280p.V828Ic.2482G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.D1445Nc.4333G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.D1422Nc.4264G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.D1445Nc.4333G>ASubstitution - Missense
ACBD4ENSG00000181513ENST00000398322p.V22Ic.64G>ASubstitution - Missense
NM_014209.1p.P188Pc.564C>GSubstitution - coding silent
ZFP82ENSG00000181007ENST00000392171p.L61Ic.181C>ASubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.E42Gc.125A>GSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.E42Gc.125A>GSubstitution - Missense
PDGFRBENSG00000113721ENST00000261799p.R439Qc.1316G>ASubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.C972Yc.2915G>ASubstitution - Missense
WDR5ENSG00000196363ENST00000358625p.T124Tc.372C>TSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.E1748Ec.5244G>ASubstitution - coding silent
ECM2ENSG00000106823ENST00000344604p.L412Lc.1234T>CSubstitution - coding silent
S1PR3ENSG00000213694ENST00000375846p.F112Fc.336C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.?c.11259+8G>AUnknown
CYP2B6ENSG00000197408ENST00000324071p.E273Kc.817G>ASubstitution - Missense
PDE1CENSG00000154678ENST00000396184p.I130Ic.390C>TSubstitution - coding silent
MYL7ENSG00000106631ENST00000223364p.V89Ic.265G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000263519p.E300Kc.898G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.E300Kc.898G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.E300Kc.898G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.?c.8010+5C>TUnknown
ENST00000502505_v68p.L58Lc.174C>TSubstitution - coding silent
ENSG00000249034ENST00000502505p.L58Lc.174C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.P10937Pc.32811G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.P4632Pc.13896G>ASubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.S580Fc.1739C>TSubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.V865Vc.2595G>ASubstitution - coding silent
GPR113ENSG00000173567ENST00000333478p.V666Vc.1998G>ASubstitution - coding silent
GPR113ENSG00000173567ENST00000333478p.S582Sc.1746C>TSubstitution - coding silent
TXNDC9ENSG00000115514ENST00000264255p.I76Ic.228C>TSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.Q389Ec.1165C>GSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.P468Lc.1403C>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000284322p.P419Lc.1256C>TSubstitution - Missense
TMEM8AENSG00000129925ENST00000431232p.L211Fc.631C>TSubstitution - Missense
NM_024735.2p.I165Ic.495C>TSubstitution - coding silent
MYH1ENSG00000109061ENST00000226207p.E1380Gc.4139A>GSubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.F197Fc.591C>TSubstitution - coding silent
ZNF880ENSG00000221923ENST00000422689p.G358Gc.1074C>GSubstitution - coding silent
NPBWR2ENSG00000125522ENST00000369768p.V165Ic.493G>ASubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.L104Pc.311T>CSubstitution - Missense
RFPL2ENSG00000128253ENST00000400237p.V372Vc.1116C>TSubstitution - coding silent
KAT2BENSG00000114166ENST00000263754p.K218Kc.654A>GSubstitution - coding silent
EMCNENSG00000164035ENST00000296420p.?c.569-1G>AUnknown
NM_006904p.P2604Sc.7810C>TSubstitution - Missense
CXorf22ENSG00000165164ENST00000297866p.I774Nc.2321T>ASubstitution - Missense
ENST00000299997p.P38Hc.113C>ASubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.R348Rc.1044G>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.E488Kc.1462G>ASubstitution - Missense
ENST00000316893p.D362Nc.1084G>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.T1079Tc.3237A>TSubstitution - coding silent
NM_145686p.I130Ic.390C>TSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.M346Ic.1038G>ASubstitution - Missense
TMEM175ENSG00000127419ENST00000264771p.?c.153+9G>CUnknown
PPIP5K2ENSG00000145725ENST00000321521p.N919Yc.2755A>TSubstitution - Missense
WASH4PENSG00000234769ENST00000326592p.I257Tc.770T>CSubstitution - Missense
CSNK2A2ENSG00000070770ENST00000262506p.D215Dc.645C>TSubstitution - coding silent
CYP26B1ENSG00000003137ENST00000001146p.L312Pc.935T>CSubstitution - Missense
VAX2ENSG00000116035ENST00000234392p.P239Lc.716C>TSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.P510Sc.1528C>TSubstitution - Missense
P2RY12ENSG00000169313ENST00000302632p.L144Lc.432C>TSubstitution - coding silent
TXLNBENSG00000164440ENST00000358430p.Q386Qc.1158G>ASubstitution - coding silent
TULP4ENSG00000130338ENST00000367097p.S234Sc.702A>GSubstitution - coding silent
LPAENSG00000198670ENST00000316300p.D1680Nc.5038G>ASubstitution - Missense
LFNGENSG00000106003ENST00000222725p.L213Lc.637C>TSubstitution - coding silent
DBF4ENSG00000006634ENST00000265728p.Y353Nc.1057T>ASubstitution - Missense
SH3KBP1ENSG00000147010ENST00000379698p.A571Ac.1713C>TSubstitution - coding silent
CDKL5ENSG00000008086ENST00000379996p.T296Ac.886A>GSubstitution - Missense
PPEF1ENSG00000086717ENST00000361511p.R484Qc.1451G>ASubstitution - Missense
SH3KBP1ENSG00000147010ENST00000397821p.A608Ac.1824C>TSubstitution - coding silent
ENST00000381114p.E1851Kc.5551G>ASubstitution - Missense
TTLL4ENSG00000135912ENST00000392102p.S538Fc.1613C>TSubstitution - Missense
ENST00000396788p.K44Qc.130A>CSubstitution - Missense
PLCD4ENSG00000115556ENST00000450993p.?c.410+5C>TUnknown
CAB39ENSG00000135932ENST00000258418p.A85Gc.254C>GSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.E1526Ec.4578G>ASubstitution - coding silent
TRPM8ENSG00000144481ENST00000324695p.?c.1654-3C>AUnknown
LRRFIP1ENSG00000124831ENST00000244815p.V736Ic.2206G>ASubstitution - Missense
CCDC37ENSG00000163885ENST00000352312p.D376Nc.1126G>ASubstitution - Missense
TRHENSG00000170893ENST00000302649p.G96Ec.287G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.L786Lc.2356C>TSubstitution - coding silent
ARHGAP8ENSG00000241484ENST00000389774p.?c.393-10C>TUnknown
P4HTMENSG00000178467ENST00000383729p.Y84Yc.252C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.G808Ec.2423G>ASubstitution - Missense
PNPLA1ENSG00000180316ENST00000394571p.S388Lc.1163C>TSubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.S511Lc.1532C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.E154Kc.460G>ASubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.S82*c.245C>ASubstitution - Nonsense
EDEM2ENSG00000088298ENST00000540582p.L386Lc.1158G>ASubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000344754p.V1618Vc.4854C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.V1618Vc.4854C>TSubstitution - coding silent
ENST00000237536_v68p.S1169Fc.3506C>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.S1169Fc.3506C>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.S1169Fc.3506C>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.E463Ec.1389G>ASubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.T35Tc.105T>CSubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.T1420Nc.4259C>ASubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.K585Ec.1753A>GSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.G489Rc.1465G>ASubstitution - Missense
ARID3CENSG00000205143ENST00000378909p.P254Pc.762C>ASubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000296315p.A455Vc.1364C>TSubstitution - Missense
ARHGEF3ENSG00000163947ENST00000338458p.A487Vc.1460C>TSubstitution - Missense
ZNF596ENSG00000172748ENST00000308811p.L294Lc.882T>CSubstitution - coding silent
NM_032682.3p.P209Sc.625C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.T955Mc.2864C>TSubstitution - Missense
C8orf47ENSG00000177459ENST00000318528p.?c.1013-3C>AUnknown
CEP112ENSG00000154240ENST00000392769p.R656Rc.1968G>ASubstitution - coding silent
CEP112ENSG00000154240ENST00000535342p.R656Rc.1968G>ASubstitution - coding silent
FASNENSG00000169710ENST00000306749p.?c.5218+9C>TUnknown
NOL4ENSG00000101746ENST00000261592p.E383Kc.1147G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000602107p.T297Sc.890C>GSubstitution - Missense
ABCG1ENSG00000160179ENST00000398437p.?c.2128-4C>TUnknown
COL18A1ENSG00000182871ENST00000355480p.L435Lc.1305C>TSubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.L670Lc.2010C>TSubstitution - coding silent
ENST00000420871_v68p.F834Vc.2500T>GSubstitution - Missense
GRM7ENSG00000196277ENST00000389335p.G886Dc.2657G>ASubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.?c.455-902_457del905Unknown
SEMA4CENSG00000168758ENST00000305476p.L65Lc.195G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000495273p.V207Vc.621T>CSubstitution - coding silent
GSDMBENSG00000073605ENST00000394175p.R35Cc.103C>TSubstitution - Missense
KRTAP1-5ENSG00000221852ENST00000361883p.A151Vc.452C>TSubstitution - Missense
KRTAP13-3ENSG00000240432ENST00000390690p.I134Ic.402C>TSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381318p.V1001Ic.3001G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.G278Gc.834A>GSubstitution - coding silent
DTHD1ENSG00000197057ENST00000357504p.G113Gc.339A>GSubstitution - coding silent
BAP1ENSG00000163930ENST00000460680p.N251Nc.753C>TSubstitution - coding silent
ENST00000399313p.G568Rc.1702G>ASubstitution - Missense
HIST1H1TENSG00000187475ENST00000338379p.A130Ac.390C>TSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.I208Vc.622A>GSubstitution - Missense
NM_022740p.M635Ic.1905G>CSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.S145Sc.435C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.L1038Fc.3112C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.P292Sc.874C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.P292Sc.874C>TSubstitution - Missense
ENST00000389322p.P292Sc.874C>TSubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.P508Sc.1522C>TSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.Q581Qc.1743G>ASubstitution - coding silent
DLX5ENSG00000105880ENST00000222598p.Q22Qc.66G>ASubstitution - coding silent
CALCRENSG00000004948ENST00000359558p.H415Yc.1243C>TSubstitution - Missense
CALCRENSG00000004948ENST00000394441p.H381Yc.1141C>TSubstitution - Missense
PDGFRLENSG00000104213ENST00000251630p.F347Vc.1039T>GSubstitution - Missense
TCEB3CL2ENSG00000266996ENST00000591973p.S361Lc.1082C>TSubstitution - Missense
ENST00000424015p.V34Vc.102C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.L23459Lc.70377G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L17087Lc.51261G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L17154Lc.51462G>ASubstitution - coding silent
NM_003319p.L16962Lc.50886G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.T16277Tc.48831G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.T9905Tc.29715G>ASubstitution - coding silent
ENST00000356127p.T16275Tc.48825G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E12331Kc.36991G>ASubstitution - Missense
ENST00000356127p.E12331Kc.36991G>ASubstitution - Missense
POMGNT1ENSG00000085998ENST00000371984p.F46Fc.138C>TSubstitution - coding silent
POMGNT1ENSG00000085998ENST00000371992p.F46Fc.138C>TSubstitution - coding silent
TTC39AENSG00000085831ENST00000371750p.G322Ec.965G>ASubstitution - Missense
TTC39AENSG00000085831ENST00000262675p.G259Ec.776G>ASubstitution - Missense
TTC39AENSG00000085831ENST00000262676p.G318Ec.953G>ASubstitution - Missense
C2CD5ENSG00000111731ENST00000333957p.?c.1147+9T>GUnknown
C2CD5ENSG00000111731ENST00000544930p.?c.526+9T>GUnknown
CACNA1CENSG00000151067ENST00000347598p.S1369Sc.4107C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.S1343Sc.4029C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000402845p.S1399Sc.4197C>TSubstitution - coding silent
ADARENSG00000160710ENST00000368474p.A468Tc.1402G>ASubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.?c.3423+8G>AUnknown
NM_032105.1p.G147Rc.439G>ASubstitution - Missense
AP4E1ENSG00000081014ENST00000261842p.I745Mc.2235A>GSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.W625Cc.1875G>CSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.W724Cc.2172G>CSubstitution - Missense
TRIM49ENSG00000168930ENST00000329758p.F48Fc.144T>CSubstitution - coding silent
DUSP16ENSG00000111266ENST00000228862p.S362Sc.1086C>TSubstitution - coding silent
TRIP11ENSG00000100815ENST00000267622p.D317Vc.950A>TSubstitution - Missense
SERPINA9ENSG00000170054ENST00000337425p.F71Fc.213C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.G845Ec.2534G>ASubstitution - Missense
PTPLAD1ENSG00000074696ENST00000261875p.?c.131-8C>TUnknown
IGDCC4ENSG00000103742ENST00000352385p.H1025fs*45c.3073delCDeletion - Frameshift
RASL12ENSG00000103710ENST00000220062p.F176Fc.528C>TSubstitution - coding silent
RASL12ENSG00000103710ENST00000434605p.F165Fc.495C>TSubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.A910Vc.2729C>TSubstitution - Missense
TLE3ENSG00000140332ENST00000317509p.P446Sc.1336C>TSubstitution - Missense
MICU2ENSG00000165487ENST00000382374p.I139Ic.417C>TSubstitution - coding silent
ENST00000456228p.T175Tc.525C>TSubstitution - coding silent
ZMYM2ENSG00000121741ENST00000382869p.T175Tc.525C>TSubstitution - coding silent
THBS1ENSG00000137801ENST00000260356p.I1131Ic.3393C>TSubstitution - coding silent
CAPSLENSG00000152611ENST00000397366p.A12Ac.36G>ASubstitution - coding silent
C9ENSG00000113600ENST00000263408p.D166Nc.496G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.A17Ac.51C>ASubstitution - coding silent
HOXB1ENSG00000120094ENST00000239174p.P142Sc.424C>TSubstitution - Missense
CXCL16ENSG00000161921ENST00000293778p.S11Sc.33C>TSubstitution - coding silent
CXCL16ENSG00000161921ENST00000293778p.S11Sc.33C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S5633Fc.16898C>TSubstitution - Missense
ENST00000331986p.S1266Fc.3797C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R7726Rc.23178G>ASubstitution - coding silent
CST8ENSG00000125815ENST00000246012p.R3Kc.8G>ASubstitution - Missense
PAX1ENSG00000125813ENST00000398485p.?c.1059+9G>AUnknown
TTNENSG00000155657ENST00000342992p.L3097Lc.9291G>TSubstitution - coding silent
ENST00000356127p.L3097Lc.9291G>TSubstitution - coding silent
NM_003319p.L3051Lc.9153G>TSubstitution - coding silent
CRYGBENSG00000182187ENST00000260988p.M44Tc.131T>CSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.H1168Hc.3504C>TSubstitution - coding silent
TRIM55ENSG00000147573ENST00000276573p.R480Rc.1440G>ASubstitution - coding silent
PLS3ENSG00000102024ENST00000355899p.N508Dc.1522A>GSubstitution - Missense
GRIA3ENSG00000125675ENST00000541091p.H636Yc.1906C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V13821Ic.41461G>ASubstitution - Missense
IPPKENSG00000127080ENST00000287996p.T123Tc.369C>TSubstitution - coding silent
C9orf3ENSG00000148120ENST00000375315p.K350Ec.1048A>GSubstitution - Missense
XM_043653.9p.P144Sc.430C>TSubstitution - Missense
YWHAEENSG00000108953ENST00000264335p.L93Lc.279A>GSubstitution - coding silent
COL4A6ENSG00000197565ENST00000334504p.C483Cc.1449T>CSubstitution - coding silent
DNAH2ENSG00000183914ENST00000570791p.E258Kc.772G>ASubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.E390Kc.1168G>ASubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.S50Fc.149C>TSubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.P145Lc.434C>TSubstitution - Missense
KLK5ENSG00000167754ENST00000336334p.G51Ec.152G>ASubstitution - Missense
BPIFA3ENSG00000131059ENST00000375454p.R84Rc.252G>ASubstitution - coding silent
SCAND1ENSG00000171222ENST00000373991p.P19Tc.55C>ASubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.P51Lc.152C>TSubstitution - Missense
AMDHD1ENSG00000139344ENST00000266736p.S137Fc.410C>TSubstitution - Missense
NTN4ENSG00000074527ENST00000343702p.A388Gc.1163C>GSubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.E755Kc.2263G>ASubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.A995Ec.2984C>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.P357Pc.1071G>ASubstitution - coding silent
PIWIL4ENSG00000134627ENST00000299001p.H374Yc.1120C>TSubstitution - Missense
GPR83ENSG00000123901ENST00000243673p.F244Fc.732C>TSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000361466p.?c.2524+7G>TUnknown
KLRC4ENSG00000183542ENST00000309384p.Q102Qc.306G>ASubstitution - coding silent
SU_DYRK4p.I628Ic.1884C>TSubstitution - coding silent
MTUS2ENSG00000132938ENST00000431530p.L1155Lc.3465C>TSubstitution - coding silent
C1orf112ENSG00000000460ENST00000286031p.L670Lc.2010G>ASubstitution - coding silent
SCYL3ENSG00000000457ENST00000367771p.?c.815+8C>TUnknown
ENST00000362058p.A21Vc.62C>TSubstitution - Missense
ZBTB37ENSG00000185278ENST00000427304p.Q146Qc.438A>GSubstitution - coding silent
SLC9C2ENSG00000162753ENST00000367714p.P590Lc.1769C>TSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.L2641Lc.7923A>GSubstitution - coding silent
NM_004667.3p.P2870Lc.8609C>TSubstitution - Missense
EPHA2ENSG00000142627ENST00000358432p.?c.154-8C>TUnknown
ARHGEF19ENSG00000142632ENST00000270747p.P704Pc.2112C>ASubstitution - coding silent
C1orf110ENSG00000185860ENST00000367910p.P90Pc.270A>GSubstitution - coding silent
TNRENSG00000116147ENST00000367674p.P349Pc.1047G>ASubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.P1552Lc.4655C>TSubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.R104Kc.311G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.L1680Mc.5038C>ASubstitution - Missense
SWT1ENSG00000116668ENST00000367501p.?c.1026+1G>AUnknown
USP5ENSG00000111667ENST00000229268p.R674Cc.2020C>TSubstitution - Missense
TTC12ENSG00000149292ENST00000314756p.P724Qc.2171C>ASubstitution - Missense
TRPC6ENSG00000137672ENST00000344327p.L238Lc.714C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.G749Gc.2247G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.G749Gc.2247G>ASubstitution - coding silent
KIAA1324ENSG00000116299ENST00000369939p.?c.803-5C>TUnknown
MOV10ENSG00000155363ENST00000357443p.R455Qc.1364G>ASubstitution - Missense
TPRENSG00000047410ENST00000367478p.?c.5889+9G>CUnknown
PTPRCENSG00000081237ENST00000442510p.V83Ic.247G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.I2476Ic.7428C>TSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376624p.H351Yc.1051C>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.H427Yc.1279C>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.V1450Fc.4348G>TSubstitution - Missense
ACBD5ENSG00000107897ENST00000396271p.D218Nc.652G>ASubstitution - Missense
ACBD5ENSG00000107897ENST00000375905p.D183Nc.547G>ASubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.P339Lc.1016C>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.M378Vc.1132A>GSubstitution - Missense
TEKT5ENSG00000153060ENST00000283025p.S87Ac.259T>GSubstitution - Missense
C10orf71ENSG00000177354ENST00000323868p.T90Tc.270G>ASubstitution - coding silent
ENST00000399868p.Q91Hc.273G>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.K1440Rc.4319A>GSubstitution - Missense
SLC22A24ENSG00000197658ENST00000326192p.L37Lc.111G>ASubstitution - coding silent
CHRM1ENSG00000168539ENST00000306960p.L183Fc.547C>TSubstitution - Missense
CTSWENSG00000172543ENST00000307886p.M242Lc.724A>CSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.V380Ac.1139T>CSubstitution - Missense
ENST00000309024p.V261Ac.782T>CSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.V261Ac.782T>CSubstitution - Missense
RNF220ENSG00000187147ENST00000355387p.Q505Hc.1515G>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.L618Sc.1853T>CSubstitution - Missense
CCDC64ENSG00000135127ENST00000397558p.R539Rc.1617G>ASubstitution - coding silent
SU_KSR2p.F757Fc.2271C>TSubstitution - coding silent
NGFENSG00000134259ENST00000369512p.L211Lc.631C>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.S157Sc.471T>CSubstitution - coding silent
ENST00000369342p.S118Sc.354T>CSubstitution - coding silent
CAPN3ENSG00000092529ENST00000357568p.?c.1783-6C>TUnknown
CAPN3ENSG00000092529ENST00000356316p.?c.1522-6C>TUnknown
PDZK1IP1ENSG00000162366ENST00000371885p.P59Qc.176C>ASubstitution - Missense
MOB3CENSG00000142961ENST00000271139p.V193Ac.578T>CSubstitution - Missense
USP9XENSG00000124486ENST00000324545p.T1534fs*4c.4600_4601insAInsertion - Frameshift
CR1ENSG00000203710ENST00000367049p.A1384Ac.4152C>TSubstitution - coding silent
EIF4BENSG00000063046ENST00000262056p.F208Fc.624T>CSubstitution - coding silent
SUOXENSG00000139531ENST00000394109p.N267fs*3c.799_803delAACCGDeletion - Frameshift
IKZF4ENSG00000123411ENST00000262032p.T41Tc.123C>TSubstitution - coding silent
OR6C68ENSG00000205327ENST00000548615p.I154Ic.462C>TSubstitution - coding silent
CMKLR1ENSG00000174600ENST00000312143p.M1Tc.2T>CSubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.A120Ac.360G>ASubstitution - coding silent
ALDH2ENSG00000111275ENST00000261733p.?c.360+1G>AUnknown
ALDH2ENSG00000111275ENST00000261733p.?c.360+1G>AUnknown
ZEB1ENSG00000148516ENST00000320985p.R325Qc.974G>ASubstitution - Missense
LEFTY2ENSG00000143768ENST00000366820p.E84Kc.250G>ASubstitution - Missense
ITIH5ENSG00000123243ENST00000256861p.G768Gc.2304G>ASubstitution - coding silent
MSS51ENSG00000166343ENST00000372912p.C137Cc.411C>TSubstitution - coding silent
STAMBPL1ENSG00000138134ENST00000371924p.K142Tc.425A>CSubstitution - Missense
STAMBPL1ENSG00000138134ENST00000371927p.K142Tc.425A>CSubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.S60Sc.180C>TSubstitution - coding silent
MICALCLENSG00000133808ENST00000256186p.D322Nc.964G>ASubstitution - Missense
CRTAMENSG00000109943ENST00000227348p.T27Ic.80C>TSubstitution - Missense
OR8B8ENSG00000197125ENST00000328064p.R293Rc.879G>ASubstitution - coding silent
OR10S1ENSG00000196248ENST00000531945p.S231Sc.693C>TSubstitution - coding silent
ENST00000349637p.V3216Fc.9646G>TSubstitution - Missense
FLI1ENSG00000151702ENST00000429175p.D14Nc.40G>ASubstitution - Missense
CHST1ENSG00000175264ENST00000308064p.L9Lc.27C>TSubstitution - coding silent
AGBL2ENSG00000165923ENST00000298861p.F532Fc.1596C>TSubstitution - coding silent
ENST00000402751p.F85Fc.255C>TSubstitution - coding silent
SH2D2AENSG00000027869ENST00000368199p.D28Nc.82G>ASubstitution - Missense
GNSENSG00000135677ENST00000258145p.?c.525+10T>CUnknown
ENST00000458043_v65p.?c.6834+7G>AUnknown
OTOGLENSG00000165899ENST00000458043p.?c.1929+7G>AUnknown
LRRIQ1ENSG00000133640ENST00000393217p.?c.5016+10G>TUnknown
LRRIQ1ENSG00000133640ENST00000393217p.R265Kc.794G>ASubstitution - Missense
ENST00000256007p.R265Kc.794G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.C10Sc.28T>ASubstitution - Missense
AGTENSG00000135744ENST00000366667p.V272Vc.816G>ASubstitution - coding silent
POLEENSG00000177084ENST00000320574p.P282Sc.844C>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.R554Rc.1662G>ASubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.?c.2340-7C>TUnknown
ABCC9ENSG00000069431ENST00000261201p.?c.2340-7C>TUnknown
SLCO1B3ENSG00000111700ENST00000381545p.E672Kc.2014G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.?c.2449-3T>AUnknown
PLEKHA5ENSG00000052126ENST00000299275p.E714Kc.2140G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.E817Kc.2449G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.?c.2354-3C>TUnknown
KMT2DENSG00000167548ENST00000301067p.A2379Vc.7136C>TSubstitution - Missense
CHRNB4ENSG00000117971ENST00000261751p.I284Ic.852C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.D1452Gc.4355A>GSubstitution - Missense
CLPBENSG00000162129ENST00000294053p.A86Gc.257C>GSubstitution - Missense
PPME1ENSG00000214517ENST00000328257p.L310Vc.928C>GSubstitution - Missense
PAAF1ENSG00000175575ENST00000310571p.?c.820-5C>TUnknown
TTC40ENSG00000171811ENST00000368586p.R2015Rc.6045G>ASubstitution - coding silent
INPP5AENSG00000068383ENST00000368594p.S310Sc.930T>CSubstitution - coding silent
NM_005539.2p.S310Sc.930T>CSubstitution - coding silent
OR10G2ENSG00000255582ENST00000542433p.R187Cc.559C>TSubstitution - Missense
IL25ENSG00000166090ENST00000329715p.T47Tc.141C>TSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.R509Hc.1526G>ASubstitution - Missense
STXBP6ENSG00000168952ENST00000358326p.F206Cc.617T>GSubstitution - Missense
MS4A3ENSG00000149516ENST00000278865p.P36Lc.107C>TSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.R770Qc.2309G>ASubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.R770Qc.2309G>ASubstitution - Missense
OR52W1ENSG00000175485ENST00000311352p.V54Vc.162G>ASubstitution - coding silent
NADSYN1ENSG00000172890ENST00000319023p.P44Sc.130C>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.T1079Mc.3236C>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.L640Pc.1919T>CSubstitution - Missense
OR2G2ENSG00000177489ENST00000320065p.R131Lc.392G>TSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.N1570Yc.4708A>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.L1461Ic.4381T>ASubstitution - Missense
NM_001371.1p.L1461Ic.4381T>ASubstitution - Missense
RANBP17ENSG00000204764ENST00000523189p.V136Mc.406G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.P191Lc.572C>TSubstitution - Missense
CLGNENSG00000153132ENST00000325617p.P394Lc.1181C>TSubstitution - Missense
GUF1ENSG00000151806ENST00000281543p.F525Vc.1573T>GSubstitution - Missense
TP63ENSG00000073282ENST00000264731p.P539Lc.1616C>TSubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.Q550*c.1648C>TSubstitution - Nonsense
NEK4ENSG00000114904ENST00000233027p.E820Gc.2459A>GSubstitution - Missense
ENST00000377824p.E128Kc.382G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.W3251Gc.9751T>GSubstitution - Missense
NM_022783.1p.N220Ic.659A>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.D1641Gc.4922A>GSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.R321Wc.961C>TSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.R321Wc.961C>TSubstitution - Missense
DPY19L4ENSG00000156162ENST00000414645p.R516*c.1546C>TSubstitution - Nonsense
KCNS2ENSG00000156486ENST00000287042p.P382Sc.1144C>TSubstitution - Missense
DEFA4ENSG00000164821ENST00000297435p.S45Fc.134C>TSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.S1441Rc.4323T>GSubstitution - Missense
ABRACLENSG00000146386ENST00000367660p.H71Yc.211C>TSubstitution - Missense
LATS1ENSG00000131023ENST00000543571p.R995Lc.2984G>TSubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.R995Lc.2984G>TSubstitution - Missense
RPL7L1ENSG00000146223ENST00000493763p.P143Lc.428C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.R1422Wc.4264C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.R1422Wc.4264C>TSubstitution - Missense
RITA1ENSG00000139405ENST00000549621p.P266Lc.797C>TSubstitution - Missense
CASC1ENSG00000118307ENST00000320267p.A12Vc.35C>TSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.D240Hc.718G>CSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.D240Hc.718G>CSubstitution - Missense
OR4C16ENSG00000181935ENST00000314634p.L287Vc.859C>GSubstitution - Missense
CUZD1ENSG00000138161ENST00000368904p.A24Tc.70G>ASubstitution - Missense
NM_002412.1p.P124Lc.371C>TSubstitution - Missense
BLNKENSG00000095585ENST00000224337p.P192Tc.574C>ASubstitution - Missense
PNLIPRP1ENSG00000187021ENST00000358834p.E179*c.535G>TSubstitution - Nonsense
UPF2ENSG00000151461ENST00000356352p.R645Gc.1933A>GSubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.E400Kc.1198G>ASubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.K182Nc.546G>TSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000400091p.K341Nc.1023G>TSubstitution - Missense
PIEZO2ENSG00000154864ENST00000285141p.S391Lc.1172C>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.Q1174*c.3520C>TSubstitution - Nonsense
KRT15ENSG00000171346ENST00000393976p.I137Vc.409A>GSubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.S758Fc.2273C>TSubstitution - Missense
CES5AENSG00000159398ENST00000521992p.P109Tc.325C>ASubstitution - Missense
CES5AENSG00000159398ENST00000319165p.P80Tc.238C>ASubstitution - Missense
MVPENSG00000013364ENST00000395353p.G847Ec.2540G>ASubstitution - Missense
CILPENSG00000138615ENST00000261883p.G706Ec.2117G>ASubstitution - Missense
ITGBL1ENSG00000198542ENST00000376180p.G482Ec.1445G>ASubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.G72Ac.215G>CSubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.P341Sc.1021C>TSubstitution - Missense
STOML3ENSG00000133115ENST00000379631p.R164Qc.491G>ASubstitution - Missense
OTTHUMT00000056248.1p.T1527fs*4c.4579_4580insAInsertion - Frameshift
KLHL12ENSG00000117153ENST00000367261p.A110fs*6c.328delGDeletion - Frameshift
F8ENSG00000185010ENST00000360256p.G193Ec.578G>ASubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.D3612Ec.10836C>GSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.D666Nc.1996G>ASubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.G615Ec.1844G>ASubstitution - Missense
ZIM3ENSG00000141946ENST00000269834p.E39Dc.117G>TSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000250360p.W180*c.540G>ASubstitution - Nonsense
ZNF701ENSG00000167562ENST00000540331p.F290Yc.869T>ASubstitution - Missense
ZNF701ENSG00000167562ENST00000391785p.F224Yc.671T>ASubstitution - Missense
PODNL1ENSG00000132000ENST00000339560p.S111Fc.332C>TSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.S4800Sc.14400C>TSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.R102Wc.304C>TSubstitution - Missense
ISXENSG00000175329ENST00000308700p.R86Cc.256C>TSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.Q1212*c.3634C>TSubstitution - Nonsense
ACTN2ENSG00000077522ENST00000366578p.R852Wc.2554C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.L1038Fc.3112C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.L1038Fc.3112C>TSubstitution - Missense
ANGPTL5ENSG00000187151ENST00000334289p.R81Kc.242G>ASubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.E408Kc.1222G>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.L111Lc.333C>TSubstitution - coding silent
HHATLENSG00000010282ENST00000310417p.W409*c.1227G>ASubstitution - Nonsense
PLCB1ENSG00000182621ENST00000338037p.F135Fc.405C>TSubstitution - coding silent
PLCB1ENSG00000182621ENST00000378641p.F135Fc.405C>TSubstitution - coding silent
ACAD10ENSG00000111271ENST00000313698p.R834Cc.2500C>TSubstitution - Missense
PHACTR1ENSG00000112137ENST00000332995p.Q264Qc.792G>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.D1912Dc.5736C>TSubstitution - coding silent
TPTE2ENSG00000132958ENST00000400230p.E339Kc.1015G>ASubstitution - Missense
COQ5ENSG00000110871ENST00000288532p.P4Pc.12C>TSubstitution - coding silent
GALNT8ENSG00000130035ENST00000252318p.P403Sc.1207C>TSubstitution - Missense
USP6ENSG00000129204ENST00000250066p.R1038Cc.3112C>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.P230Sc.688C>TSubstitution - Missense
PIK3R2ENSG00000105647ENST00000222254p.N561Dc.1681A>GSubstitution - Missense
FAM183BENSG00000164556ENST00000409072p.R104Cc.310C>TSubstitution - Missense
ENST00000409072_v68p.R104Cc.310C>TSubstitution - Missense
ENST00000310358p.R582Hc.1745G>ASubstitution - Missense
GAKENSG00000178950ENST00000314167p.I435Ic.1305C>TSubstitution - coding silent
REG4ENSG00000134193ENST00000354219p.W93*c.279G>ASubstitution - Nonsense
ANKMY1ENSG00000144504ENST00000391987p.L312Fc.934C>TSubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.L171Fc.511C>TSubstitution - Missense
MFSD6ENSG00000151690ENST00000392328p.V6Ac.17T>CSubstitution - Missense
PLCL1ENSG00000115896ENST00000428675p.A741Tc.2221G>ASubstitution - Missense
NM_006226.1p.A643Tc.1927G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.K2784Rc.8351A>GSubstitution - Missense
ENST00000356127p.K2830Rc.8489A>GSubstitution - Missense
NM_003319p.K2784Rc.8351A>GSubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.V598Ic.1792G>ASubstitution - Missense
LY75ENSG00000054219ENST00000263636p.S719Rc.2157C>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.A730Sc.2188G>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.A730Sc.2188G>TSubstitution - Missense
KCNIP3ENSG00000115041ENST00000295225p.E68Kc.202G>ASubstitution - Missense
PPP1R21ENSG00000162869ENST00000294952p.H670Yc.2008C>TSubstitution - Missense
LHCGRENSG00000138039ENST00000294954p.L384Pc.1151T>CSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.V514Mc.1540G>ASubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.R44Cc.130C>TSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.R44Cc.130C>TSubstitution - Missense


COSMIC

211 mutations reported
2 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
CEP250ENSG00000126001ENST00000397527p.P1218Sc.3652C>TSubstitution - Missense23856246
NUP210LENSG00000143552ENST00000368559p.G166Ec.497G>ASubstitution - Missense23856246
CCDC27ENSG00000162592ENST00000294600p.L639fs*8c.1916delTDeletion - Frameshift23856246
GALNT15ENSG00000131386ENST00000339732p.A271Pc.811G>CSubstitution - Missense23856246
NPNTENSG00000168743ENST00000305572p.P333delPc.996_998delACCDeletion - In frame23856246
RP1L1ENSG00000183638ENST00000382483p.V1663Ec.4988T>ASubstitution - Missense23856246
COL4A4ENSG00000081052ENST00000396625p.G1115Rc.3343G>ASubstitution - Missense23856246
CAPZA3ENSG00000177938ENST00000317658p.L34Fc.100C>TSubstitution - Missense23856246
ALMS1ENSG00000116127ENST00000264448p.R3630Cc.10888C>TSubstitution - Missense23856246
NPNTENSG00000168743ENST00000379987p.P333delPc.996_998delACCDeletion - In frame23856246
EIF3MENSG00000149100ENST00000531120p.L164Fc.490C>TSubstitution - Missense23856246
MYOZ3ENSG00000164591ENST00000297130p.P167Sc.499C>TSubstitution - Missense23856246
TBC1D32ENSG00000146350ENST00000398212p.P654Sc.1960C>TSubstitution - Missense23856246
ANGPT2ENSG00000091879ENST00000325203p.I401Lc.1201A>CSubstitution - Missense23856246
GPSM2ENSG00000121957ENST00000406462p.R563Sc.1689G>CSubstitution - Missense23856246
TAF12ENSG00000120656ENST00000263974p.K160Rc.479A>GSubstitution - Missense23856246
LSSENSG00000160285ENST00000397728p.V537Mc.1609G>ASubstitution - Missense23856246
LMAN1ENSG00000074695ENST00000251047p.W104Lc.311G>TSubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense20530683
ENST00000356127p.K2830Rc.8489A>GSubstitution - Missense23856246
KDM3AENSG00000115548ENST00000409556p.A730Sc.2188G>TSubstitution - Missense23856246
ZIM3ENSG00000141946ENST00000269834p.E39Dc.117G>TSubstitution - Missense23856246
FSHRENSG00000170820ENST00000406846p.V514Mc.1540G>ASubstitution - Missense23856246
ACAD10ENSG00000111271ENST00000313698p.R834Cc.2500C>TSubstitution - Missense23856246
ZNF609ENSG00000180357ENST00000326648p.K948delKc.2842_2844delAAGDeletion - In frame23856246
ARHGAP28ENSG00000088756ENST00000314319p.K182Nc.546G>TSubstitution - Missense23856246
DNAH8ENSG00000124721ENST00000359357p.L1461Ic.4381T>ASubstitution - Missense23856246
REG4ENSG00000134193ENST00000354219p.W93*c.279G>ASubstitution - Nonsense23856246
FAM47BENSG00000189132ENST00000329357p.G615Ec.1844G>ASubstitution - Missense23856246
GPR156ENSG00000175697ENST00000315843p.Q550*c.1648C>TSubstitution - Nonsense23856246
ACOX2ENSG00000168306ENST00000302819p.T154fs*25c.456_459delACAGDeletion - Frameshift23856246
DSC3ENSG00000134762ENST00000434452p.E400Kc.1198G>ASubstitution - Missense23856246
ITGBL1ENSG00000198542ENST00000376180p.G482Ec.1445G>ASubstitution - Missense23856246
ARHGEF40ENSG00000165801ENST00000298694p.G72Ac.215G>CSubstitution - Missense23856246
TRIM42ENSG00000155890ENST00000286349p.E408Kc.1222G>ASubstitution - Missense23856246
PKHD1ENSG00000170927ENST00000371117p.R1422Wc.4264C>TSubstitution - Missense23856246
CCND1ENSG00000110092ENST00000227507p.D240Hc.718G>CSubstitution - Missense23856246
PODNL1ENSG00000132000ENST00000339560p.S111Fc.332C>TSubstitution - Missense23856246
CES5AENSG00000159398ENST00000521992p.P109Tc.325C>ASubstitution - Missense23856246
OR2G2ENSG00000177489ENST00000320065p.R131Lc.392G>TSubstitution - Missense23856246
PIEZO2ENSG00000154864ENST00000285141p.S391Lc.1172C>TSubstitution - Missense23856246
GUF1ENSG00000151806ENST00000281543p.F525Vc.1573T>GSubstitution - Missense23856246
OR52D1ENSG00000181609ENST00000322641p.F164delFc.492_494delCTTDeletion - In frame23856246
CTTNBP2ENSG00000077063ENST00000160373p.S1441Rc.4323T>GSubstitution - Missense23856246
LLPHENSG00000139233ENST00000266604p.M75fs*13c.224delTDeletion - Frameshift23856246
LATS1ENSG00000131023ENST00000253339p.R995Lc.2984G>TSubstitution - Missense23856246
MVPENSG00000013364ENST00000395353p.G847Ec.2540G>ASubstitution - Missense23856246
CLGNENSG00000153132ENST00000325617p.P394Lc.1181C>TSubstitution - Missense23856246
NF1ENSG00000196712ENST00000358273p.Q1174*c.3520C>TSubstitution - Nonsense23856246
ENST00000394167p.Q164*c.490C>TSubstitution - Nonsense23856246
SETD2ENSG00000181555ENST00000409792p.R1625Cc.4873C>TSubstitution - Missense23856246
SLC12A8ENSG00000221955ENST00000393469p.S5Fc.14C>TSubstitution - Missense23856246
PIWIL2ENSG00000197181ENST00000356766p.G816Rc.2446G>ASubstitution - Missense23856246
ADAMTS12ENSG00000151388ENST00000515401p.P191Lc.572C>TSubstitution - Missense23856246
TMEM144ENSG00000164124ENST00000296529p.L59fs*33c.176delTDeletion - Frameshift23856246
DCCENSG00000187323ENST00000442544p.D1177Nc.3529G>ASubstitution - Missense23856246
NHSENSG00000188158ENST00000398097p.S1306Yc.3917C>ASubstitution - Missense23856246
SLC10A2ENSG00000125255ENST00000245312p.S177Fc.530C>TSubstitution - Missense23856246
TTNENSG00000155657ENST00000360870p.L4776Sc.14327T>CSubstitution - Missense23856246
BMFENSG00000104081ENST00000354670p.M1Ic.3G>ASubstitution - Missense23856246
GLRX5ENSG00000182512ENST00000331334p.D153Yc.457G>TSubstitution - Missense23856246
SERPING1ENSG00000149131ENST00000278407p.S150Fc.449C>TSubstitution - Missense23856246
TTNENSG00000155657ENST00000342175p.K2784Rc.8351A>GSubstitution - Missense23856246
KRTAP19-3ENSG00000244025ENST00000334063p.G63Ec.188G>ASubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000525539p.N236fs*26c.705_706delAADeletion - Frameshift23856246
SLC25A2ENSG00000120329ENST00000239451p.Y44fs*1c.130_131insAInsertion - Frameshift23856246
DNAH5ENSG00000039139ENST00000265104p.S3132Fc.9395C>TSubstitution - Missense23856246
TRPC4ENSG00000133107ENST00000379681p.P341Sc.1021C>TSubstitution - Missense23856246
PEX2ENSG00000164751ENST00000357039p.S3Fc.8C>TSubstitution - Missense23856246
CDO1ENSG00000129596ENST00000250535p.P110Rc.329C>GSubstitution - Missense23856246
GPR158ENSG00000151025ENST00000376351p.E1118Kc.3352G>ASubstitution - Missense23856246
OR13G1ENSG00000197437ENST00000359688p.T164Ic.491C>TSubstitution - Missense23856246
PIEZO2ENSG00000154864ENST00000302079p.S2599Lc.7796C>TSubstitution - Missense23856246
MGMTENSG00000170430ENST00000306010p.P155Lc.464C>TSubstitution - Missense23856246
TTNENSG00000155657ENST00000342992p.K2830Rc.8489A>GSubstitution - Missense23856246
RCVRNENSG00000109047ENST00000226193p.E145Kc.433G>ASubstitution - Missense23856246
ARID2ENSG00000189079ENST00000334344p.Q871fs*80c.2610_2611insTInsertion - Frameshift23856246
DSC3ENSG00000134762ENST00000360428p.E400Kc.1198G>ASubstitution - Missense23856246
NDST4ENSG00000138653ENST00000264363p.E85Kc.253G>ASubstitution - Missense23856246
SETD2ENSG00000181555ENST00000330022p.R1122Cc.3364C>TSubstitution - Missense23856246
AMHR2ENSG00000135409ENST00000257863p.S273Fc.818C>TSubstitution - Missense23856246
TCAPENSG00000173991ENST00000309889p.E13delEc.37_39delGAGDeletion - In frame23856246
KCNIP3ENSG00000115041ENST00000468529p.E42Kc.124G>ASubstitution - Missense23856246
FER1L6ENSG00000214814ENST00000399018p.D1641Gc.4922A>GSubstitution - Missense23856246
PKHD1ENSG00000170927ENST00000340994p.R1422Wc.4264C>TSubstitution - Missense23856246
DEFA4ENSG00000164821ENST00000297435p.S45Fc.134C>TSubstitution - Missense23856246
KCNIP3ENSG00000115041ENST00000295225p.E68Kc.202G>ASubstitution - Missense23856246
TRPC4ENSG00000133107ENST00000379705p.P341Sc.1021C>TSubstitution - Missense23856246
TP63ENSG00000073282ENST00000264731p.P539Lc.1616C>TSubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense23856246
BLNKENSG00000095585ENST00000224337p.P192Tc.574C>ASubstitution - Missense23856246
TRIB1ENSG00000173334ENST00000311922p.R321Wc.961C>TSubstitution - Missense23856246
DPY19L4ENSG00000156162ENST00000414645p.R516*c.1546C>TSubstitution - Nonsense23856246
NEK4ENSG00000114904ENST00000233027p.E820Gc.2459A>GSubstitution - Missense23856246
SIGLEC9ENSG00000129450ENST00000250360p.W180*c.540G>ASubstitution - Nonsense23856246
LATS1ENSG00000131023ENST00000543571p.R995Lc.2984G>TSubstitution - Missense23856246
F8ENSG00000185010ENST00000360256p.G193Ec.578G>ASubstitution - Missense23856246
CASC1ENSG00000118307ENST00000320267p.A12Vc.35C>TSubstitution - Missense23856246
COL27A1ENSG00000196739ENST00000356083p.G1517Ec.4550G>ASubstitution - Missense23856246
ZNF701ENSG00000167562ENST00000391785p.F224Yc.671T>ASubstitution - Missense23856246
SUOXENSG00000139531ENST00000394109p.N267fs*3c.800_804delACCGADeletion - Frameshift23856246
PKP4ENSG00000144283ENST00000389759p.V598Ic.1792G>ASubstitution - Missense23856246
TACR2ENSG00000075073ENST00000373306p.N97delNc.287_289delACADeletion - In frame23856246
PPP1R21ENSG00000162869ENST00000294952p.H670Yc.2008C>TSubstitution - Missense23856246
NM_022783.1p.N220Ic.659A>TSubstitution - Missense23856246
F8ENSG00000185010ENST00000360256p.G193Ec.578G>ASubstitution - Missense23856246
RGS7ENSG00000182901ENST00000366565p.R44Cc.130C>TSubstitution - Missense23856246
CD320ENSG00000167775ENST00000301458p.E88delEc.256_258delGAGDeletion - In frame23856246
ACTN2ENSG00000077522ENST00000366578p.R852Wc.2554C>TSubstitution - Missense23856246
TECTAENSG00000109927ENST00000392793p.S1202Fc.3605C>TSubstitution - Missense23856246
CNDP1ENSG00000150656ENST00000358821p.L20_E21insLc.60_61insCTGInsertion - In frame23856246
SLC22A14ENSG00000144671ENST00000273173p.L238fs*25c.713_716delTGTTDeletion - Frameshift23856246
SLC39A14ENSG00000104635ENST00000359741p.S194Cc.581C>GSubstitution - Missense23856246
PRKCEENSG00000171132ENST00000306156p.G222Wc.664G>TSubstitution - Missense23856246
EPHA3ENSG00000044524ENST00000336596p.W808*c.2423G>ASubstitution - Nonsense23856246
ZNF215ENSG00000149054ENST00000278319p.S331Fc.992C>TSubstitution - Missense23856246
XM_497119.1p.D3502Ec.10506C>GSubstitution - Missense23856246
SLC12A8ENSG00000221955ENST00000393469p.S43Fc.128C>TSubstitution - Missense23856246
CSMD3ENSG00000164796ENST00000343508p.W3211Gc.9631T>GSubstitution - Missense23856246
PDZD2ENSG00000133401ENST00000282493p.S396Fc.1187C>TSubstitution - Missense23856246
PTPN12ENSG00000127947ENST00000248594p.Q703*c.2107C>TSubstitution - Nonsense23856246
DDX46ENSG00000145833ENST00000354283p.S386Fc.1157C>TSubstitution - Missense23856246
C1orf168ENSG00000187889ENST00000343433p.P316Lc.947C>TSubstitution - Missense23856246
KRT4ENSG00000170477ENST00000293774p.E384Kc.1150G>ASubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000337114p.N236fs*26c.705_706delAADeletion - Frameshift23856246
MAGEC3ENSG00000165509ENST00000298296p.D50Nc.148G>ASubstitution - Missense23856246
DNAH2ENSG00000183914ENST00000389173p.?c.3179+4_3179+5insAGTGCUnknown23856246
NTRK1ENSG00000198400ENST00000392302p.V384Mc.1150G>ASubstitution - Missense23856246
C22orf42ENSG00000205856ENST00000382097p.S189Ic.566G>TSubstitution - Missense23856246
HHATLENSG00000010282ENST00000310417p.W409*c.1226G>ASubstitution - Nonsense23856246
PPP1R21ENSG00000162869ENST00000281394p.H659Yc.1975C>TSubstitution - Missense23856246
RGS7ENSG00000182901ENST00000407727p.R44Cc.130C>TSubstitution - Missense23856246
CASC1ENSG00000118307ENST00000354189p.A76Vc.227C>TSubstitution - Missense23856246
PLCXD3ENSG00000182836ENST00000377801p.G124Dc.371G>ASubstitution - Missense23856246
OR51B4ENSG00000183251ENST00000380224p.R302Cc.904C>TSubstitution - Missense23856246
SBNO1ENSG00000139697ENST00000267176p.Q176*c.526C>TSubstitution - Nonsense23856246
KIAA1199ENSG00000103888ENST00000356249p.K1360delKc.4078_4080delAAGDeletion - In frame23856246
UPF2ENSG00000151461ENST00000356352p.R645Gc.1933A>GSubstitution - Missense23856246
PIK3R2ENSG00000105647ENST00000222254p.N561Dc.1681A>GSubstitution - Missense23856246
CSMD3ENSG00000164796ENST00000297405p.W3251Gc.9751T>GSubstitution - Missense23856246
NM_002412.1p.P124Lc.371C>TSubstitution - Missense23856246
LY75ENSG00000054219ENST00000263636p.S719Rc.2157C>ASubstitution - Missense23856246
FMN2ENSG00000155816ENST00000319653p.N1570Yc.4708A>TSubstitution - Missense23856246
RANBP17ENSG00000204764ENST00000523189p.V136Mc.406G>ASubstitution - Missense23856246
TRIB1ENSG00000173334ENST00000311922p.R321Wc.961C>TSubstitution - Missense23856246
NM_001371.1p.L1461Ic.4381T>ASubstitution - Missense23856246
ENST00000377824p.E128Kc.382G>ASubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense19996208
STAG2ENSG00000101972ENST00000371160p.0?c.1_3696del3696Unknown21852505
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense19441164
NF1ENSG00000196712ENST00000358273p.Q1174*c.3520C>TSubstitution - Nonsense23856246
GALNT8ENSG00000130035ENST00000252318p.P403Sc.1207C>TSubstitution - Missense23856246
NUP205ENSG00000155561ENST00000285968p.G826Ec.2477G>ASubstitution - Missense23856246
ARHGAP28ENSG00000088756ENST00000400091p.K341Nc.1023G>TSubstitution - Missense23856246
GRM7ENSG00000196277ENST00000389335p.S253Fc.758C>TSubstitution - Missense23856246
USP29ENSG00000131864ENST00000254181p.S308Fc.923C>TSubstitution - Missense23856246
NM_003319p.K2784Rc.8351A>GSubstitution - Missense23856246
ATG7ENSG00000197548ENST00000354449p.F502Lc.1504T>CSubstitution - Missense23856246
GRHPRENSG00000137106ENST00000318158p.E128Kc.382G>ASubstitution - Missense23856246
ASNSD1ENSG00000138381ENST00000260952p.G470Rc.1408G>ASubstitution - Missense23856246
DPAGT1ENSG00000172269ENST00000354202p.P298Sc.892C>TSubstitution - Missense23856246
TTNENSG00000155657ENST00000360870p.K2830Rc.8489A>GSubstitution - Missense23856246
TKTL2ENSG00000151005ENST00000280605p.L520fs*1c.1556delCDeletion - Frameshift23856246
OTTHUMT00000056248.1p.T1527fs*4c.4579_4580insAInsertion - Frameshift23856246
FATE1ENSG00000147378ENST00000370350p.W158*c.474G>ASubstitution - Nonsense23856246
LHCGRENSG00000138039ENST00000294954p.L384Pc.1151T>CSubstitution - Missense23856246
ADAMTS12ENSG00000151388ENST00000504830p.P191Lc.572C>TSubstitution - Missense23856246
STC2ENSG00000113739ENST00000265087p.W290*c.869G>ASubstitution - Nonsense23856246
ANGPT2ENSG00000091879ENST00000325203p.I401Lc.1201A>CSubstitution - Missense23856246
TCTN1ENSG00000204852ENST00000551590p.P223Sc.667C>TSubstitution - Missense23856246
NTRK1ENSG00000198400ENST00000524377p.V420Mc.1258G>ASubstitution - Missense23856246
CARFENSG00000138380ENST00000320443p.S37Fc.110C>TSubstitution - Missense23856246
NDST3ENSG00000164100ENST00000296499p.E361Gc.1082A>GSubstitution - Missense23856246
KRT15ENSG00000171346ENST00000393976p.I137Vc.409A>GSubstitution - Missense23856246
NM_006226.1p.A643Tc.1927G>ASubstitution - Missense23856246
CILPENSG00000138615ENST00000261883p.G706Ec.2117G>ASubstitution - Missense23856246
RGS7ENSG00000182901ENST00000366565p.R44Cc.130C>TSubstitution - Missense23856246
ANKMY1ENSG00000144504ENST00000361678p.L171Fc.511C>TSubstitution - Missense23856246
TTNENSG00000155657ENST00000359218p.K2784Rc.8351A>GSubstitution - Missense23856246
USP9XENSG00000124486ENST00000324545p.T1534fs*4c.4600_4601insAInsertion - Frameshift23856246
ANGPTL5ENSG00000187151ENST00000334289p.R81Kc.242G>ASubstitution - Missense23856246
ARID1AENSG00000117713ENST00000324856p.Q1212*c.3634C>TSubstitution - Nonsense23856246
HAVCR1ENSG00000113249ENST00000339252p.T160_V161insTc.474_475insACAInsertion - In frame23856246
ABRACLENSG00000146386ENST00000367660p.H71Yc.211C>TSubstitution - Missense23856246
ZNF701ENSG00000167562ENST00000540331p.F290Yc.869T>ASubstitution - Missense23856246
FER1L6ENSG00000214814ENST00000399018p.E312Kc.934G>ASubstitution - Missense23856246
HHATLENSG00000010282ENST00000310417p.W409*c.1227G>ASubstitution - Nonsense23856246
OR5B3ENSG00000172769ENST00000309403p.F31fs*16c.87delCDeletion - Frameshift23856246
ASB15ENSG00000146809ENST00000451558p.D241fs*52c.721delGDeletion - Frameshift23856246
RITA1ENSG00000139405ENST00000549621p.P266Lc.797C>TSubstitution - Missense23856246
KDM3AENSG00000115548ENST00000409556p.A730Sc.2188G>TSubstitution - Missense23856246
HUWE1ENSG00000086758ENST00000342160p.D3612Ec.10836C>GSubstitution - Missense23856246
ANKMY1ENSG00000144504ENST00000391987p.L312Fc.934C>TSubstitution - Missense23856246
MFSD6ENSG00000151690ENST00000392328p.V6Ac.17T>CSubstitution - Missense23856246
CD1EENSG00000158488ENST00000368167p.V369Ic.1105G>ASubstitution - Missense23856246
DZIP3ENSG00000198919ENST00000361582p.A896Vc.2687C>TSubstitution - Missense23856246
OR13C5ENSG00000255800ENST00000374779p.M258Kc.773T>ASubstitution - Missense23856246
ANK3ENSG00000151150ENST00000280772p.E3736Kc.11206G>ASubstitution - Missense23856246
NHSENSG00000188158ENST00000380060p.S1462Yc.4385C>ASubstitution - Missense23856246
NOS2ENSG00000007171ENST00000313735p.S758Fc.2273C>TSubstitution - Missense23856246
RPL7L1ENSG00000146223ENST00000493763p.P143Lc.428C>TSubstitution - Missense23856246
PNLIPRP1ENSG00000187021ENST00000358834p.E179*c.535G>TSubstitution - Nonsense23856246
OR4C16ENSG00000181935ENST00000314634p.L287Vc.859C>GSubstitution - Missense23856246
CES5AENSG00000159398ENST00000319165p.P80Tc.238C>ASubstitution - Missense23856246
KCNS2ENSG00000156486ENST00000287042p.P382Sc.1144C>TSubstitution - Missense23856246
CCND1ENSG00000110092ENST00000227507p.D240Hc.718G>CSubstitution - Missense23856246
STOML3ENSG00000133115ENST00000379631p.R164Qc.491G>ASubstitution - Missense23856246
FAM47AENSG00000185448ENST00000346193p.D666Nc.1996G>ASubstitution - Missense23856246
KLHL12ENSG00000117153ENST00000367261p.A110fs*6c.328delGDeletion - Frameshift23856246
PLCL1ENSG00000115896ENST00000428675p.A741Tc.2221G>ASubstitution - Missense23856246
CUZD1ENSG00000138161ENST00000368904p.A24Tc.70G>ASubstitution - Missense23856246