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COLO-684 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1686 mutations reported
491 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
CD1CENSG00000158481ENST00000368170p.S285Nc.854G>ASubstitution - Missense
NM_001004342.2p.R435Cc.1303C>TSubstitution - Missense
SMAP2ENSG00000084070ENST00000372718p.A182Ac.546G>ASubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.?c.932+4T>CUnknown
CSMD3ENSG00000164796ENST00000297405p.G2616Vc.7847G>TSubstitution - Missense
CGNENSG00000143375ENST00000271636p.R199Hc.596G>ASubstitution - Missense
NM_000770.2p.G70Dc.209G>ASubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.T1474fs*14c.4414delADeletion - Frameshift
APPBP2ENSG00000062725ENST00000083182p.R518*c.1552C>TSubstitution - Nonsense
RC3H1ENSG00000135870ENST00000258349p.R159Qc.476G>ASubstitution - Missense
GRHL1ENSG00000134317ENST00000324883p.S421fs*6c.1255delGDeletion - Frameshift
KCNB2ENSG00000182674ENST00000523207p.E146fs*3c.428delADeletion - Frameshift
POU4F2ENSG00000151615ENST00000281321p.R331Hc.992G>ASubstitution - Missense
ZDHHC15ENSG00000102383ENST00000373367p.V31Ic.91G>ASubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.K923fs*4c.2769delADeletion - Frameshift
SLC26A5ENSG00000170615ENST00000306312p.I57fs*1c.169delADeletion - Frameshift
TRPS1ENSG00000104447ENST00000395715p.R1125Wc.3373C>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.H733fs*30c.2191delCDeletion - Frameshift
CNTLNENSG00000044459ENST00000380647p.R253Gc.757C>GSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.E1244Dc.3732G>TSubstitution - Missense
OTUD1ENSG00000165312ENST00000376495p.V329Vc.987G>ASubstitution - coding silent
PTENENSG00000171862ENST00000371953p.R130*c.388C>TSubstitution - Nonsense
MTERFD3ENSG00000120832ENST00000392830p.L14Lc.40C>TSubstitution - coding silent
UTP14CENSG00000253797ENST00000521776p.L526Ic.1576C>ASubstitution - Missense
KIAA0226LENSG00000102445ENST00000378784p.S97Sc.291T>CSubstitution - coding silent
MAN2C1ENSG00000140400ENST00000267978p.M587Ic.1761G>TSubstitution - Missense
CLK3ENSG00000179335ENST00000395066p.A418Tc.1252G>ASubstitution - Missense
CLK3ENSG00000179335ENST00000345005p.A270Tc.808G>ASubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.V968Vc.2904C>TSubstitution - coding silent
ERBB3ENSG00000065361ENST00000411731p.V119Ic.355G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.V119Ic.355G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.C301Cc.903T>CSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.V1395Ac.4184T>CSubstitution - Missense
HP1BP3ENSG00000127483ENST00000312239p.?c.511-2A>GUnknown
DTLENSG00000143476ENST00000366991p.S647fs*4c.1936delGDeletion - Frameshift
FAM71AENSG00000162771ENST00000294829p.R128Wc.382C>TSubstitution - Missense
VASH2ENSG00000143494ENST00000366968p.V129Ac.386T>CSubstitution - Missense
PFKFB2ENSG00000123836ENST00000367079p.P416Hc.1247C>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.Q1756Pc.5267A>CSubstitution - Missense
KPNA1ENSG00000114030ENST00000344337p.E60delEc.179_181delAAGDeletion - In frame
KCNA1ENSG00000111262ENST00000382545p.E116Kc.346G>ASubstitution - Missense
TRIM67ENSG00000119283ENST00000366653p.R435Cc.1303C>TSubstitution - Missense
NM_002439.1p.K374fs*20c.1114_1115delAADeletion - Frameshift
BMP1ENSG00000168487ENST00000306385p.N614fs*138c.1833delCDeletion - Frameshift
TNKSENSG00000173273ENST00000310430p.T508fs*33c.1516delADeletion - Frameshift
FKBP15ENSG00000119321ENST00000446284p.K690fs*9c.2069delADeletion - Frameshift
DDX26BENSG00000165359ENST00000370752p.L120fs*1c.352delTDeletion - Frameshift
NM_182540.2p.L120fs*1c.352delTDeletion - Frameshift
CSN3ENSG00000171209ENST00000304954p.*183fs?c.548delADeletion - Frameshift
CDH10ENSG00000040731ENST00000264463p.Y730fs*19c.2187delCDeletion - Frameshift
GRM8ENSG00000179603ENST00000405249p.K296fs*2c.888delADeletion - Frameshift
MKL1ENSG00000196588ENST00000355630p.L787fs*41c.2359delCDeletion - Frameshift
EXOSC9ENSG00000123737ENST00000379663p.F78fs*23c.227delTDeletion - Frameshift
ZNF93ENSG00000184635ENST00000343769p.K171fs*6c.506delADeletion - Frameshift
HKR1ENSG00000181666ENST00000324411p.A90Ac.270G>ASubstitution - coding silent
INO80DENSG00000114933ENST00000403263p.M514fs*5c.1540delADeletion - Frameshift
INO80DENSG00000114933ENST00000403263p.M409fs*5c.1225delADeletion - Frameshift
HERC1ENSG00000103657ENST00000443617p.V1879fs*26c.5634delADeletion - Frameshift
SETD1AENSG00000099381ENST00000262519p.G708fs*95c.2115delCDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.G1235fs*95c.3704delGDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.G962fs*95c.2885delGDeletion - Frameshift
MAP3K12ENSG00000139625ENST00000547035p.S569fs*45c.1704delCDeletion - Frameshift
MAP3K12ENSG00000139625ENST00000267079p.S536fs*45c.1605delCDeletion - Frameshift
SYNE2ENSG00000054654ENST00000358025p.K677fs*30c.2025delADeletion - Frameshift
NAV1ENSG00000134369ENST00000367296p.A1224Vc.3671C>TSubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.R425fs*36c.1266delGDeletion - Frameshift
PRKAA2ENSG00000162409ENST00000371244p.F90fs*3c.264delTDeletion - Frameshift
KCNAB3ENSG00000170049ENST00000303790p.A377Tc.1129G>ASubstitution - Missense
TGFB2ENSG00000092969ENST00000366929p.N302fs*10c.898delADeletion - Frameshift
ZNF831ENSG00000124203ENST00000371030p.T52fs*4c.146delCDeletion - Frameshift
NR2C2ENSG00000177463ENST00000323373p.F582fs*10c.1739delTDeletion - Frameshift
GRID1ENSG00000182771ENST00000327946p.R300Hc.899G>ASubstitution - Missense
SETENSG00000119335ENST00000322030p.?c.274+2T>CUnknown
NDST4ENSG00000138653ENST00000264363p.T654Ic.1961C>TSubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.P978Pc.2934G>ASubstitution - coding silent
CYFIP2ENSG00000055163ENST00000318218p.C1044Cc.3132C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000442283p.C1044Cc.3132C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000377576p.C1019Cc.3057C>TSubstitution - coding silent
CTCFLENSG00000124092ENST00000243914p.S410Sc.1230C>TSubstitution - coding silent
BCL2L13ENSG00000099968ENST00000317582p.N415Nc.1245C>TSubstitution - coding silent
MOCOSENSG00000075643ENST00000261326p.A561Tc.1681G>ASubstitution - Missense
GMIPENSG00000089639ENST00000203556p.D680Dc.2040C>TSubstitution - coding silent
MATKENSG00000007264ENST00000310132p.R467Hc.1400G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.A3348Vc.10043C>TSubstitution - Missense
ENST00000298047_v61p.A3348Vc.10043C>TSubstitution - Missense
S100A7AENSG00000184330ENST00000329256p.A83Ac.249C>TSubstitution - coding silent
SMC3ENSG00000108055ENST00000361804p.L333Lc.997C>TSubstitution - coding silent
C1orf101ENSG00000179397ENST00000366533p.K175Kc.525A>GSubstitution - coding silent
SMYD3ENSG00000185420ENST00000388985p.Q380Rc.1139A>GSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.K402Tc.1205A>CSubstitution - Missense
RGS7ENSG00000182901ENST00000407727p.K402Tc.1205A>CSubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.W793Rc.2377T>ASubstitution - Missense
A2MENSG00000175899ENST00000318602p.?c.879+6T>CUnknown
NDUFV1ENSG00000167792ENST00000322776p.E161Kc.481G>ASubstitution - Missense
NDUFV1ENSG00000167792ENST00000322776p.P406Pc.1218G>CSubstitution - coding silent
OR2AG2ENSG00000188124ENST00000338569p.E196Gc.587A>GSubstitution - Missense
CCSENSG00000173992ENST00000533244p.T69Mc.206C>TSubstitution - Missense
RABGGTAENSG00000100949ENST00000399409p.G325Gc.975C>TSubstitution - coding silent
CIDEBENSG00000136305ENST00000258807p.T55Tc.165C>ASubstitution - coding silent
CDH24ENSG00000139880ENST00000487137p.R20Hc.59G>ASubstitution - Missense
PACS2ENSG00000179364ENST00000325438p.E209Ec.627G>ASubstitution - coding silent
BAG5ENSG00000166170ENST00000299204p.L430Pc.1289T>CSubstitution - Missense
APOPT1ENSG00000256053ENST00000247618p.?c.322-13_351>33Unknown
ZNF839ENSG00000022976ENST00000442396p.A722Ac.2166G>ASubstitution - coding silent
CDC42BPBENSG00000198752ENST00000361246p.?c.268-9G>AUnknown
LHPPENSG00000107902ENST00000368842p.Y253Yc.759C>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.R2214Cc.6640C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.R2214Cc.6640C>TSubstitution - Missense
CAPN5ENSG00000149260ENST00000278559p.N622Nc.1866C>TSubstitution - coding silent
CYB5R2ENSG00000166394ENST00000299498p.T145fs*8c.433delADeletion - Frameshift
P4HA3ENSG00000149380ENST00000331597p.A523Vc.1568C>TSubstitution - Missense
AP3B2ENSG00000103723ENST00000261722p.Y100Cc.299A>GSubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.?c.162+6A>GUnknown
FMNL3ENSG00000161791ENST00000335154p.S495Sc.1485T>CSubstitution - coding silent
PFKMENSG00000152556ENST00000359794p.Q78Hc.234G>TSubstitution - Missense
ART4ENSG00000111339ENST00000228936p.Q72*c.214C>TSubstitution - Nonsense
ACTN2ENSG00000077522ENST00000366578p.G365Dc.1094G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.E1545Vc.4634A>TSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.A1198Ac.3594G>ASubstitution - coding silent
PCNXL2ENSG00000135749ENST00000430153p.R85Qc.254G>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.R631Qc.1892G>ASubstitution - Missense
EXOC8ENSG00000116903ENST00000360394p.A296Vc.887C>TSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.Q490Rc.1469A>GSubstitution - Missense
NM_014903.3p.Q490Rc.1469A>GSubstitution - Missense
VWFENSG00000110799ENST00000261405p.C325*c.975C>ASubstitution - Nonsense
SHMT2ENSG00000182199ENST00000393827p.A96Vc.287C>TSubstitution - Missense
OR10K2ENSG00000180708ENST00000314902p.S275Sc.825A>CSubstitution - coding silent
PYHIN1ENSG00000163564ENST00000392254p.Q248*c.742C>TSubstitution - Nonsense
KIRRELENSG00000183853ENST00000359209p.I415Ic.1245T>CSubstitution - coding silent
RHBGENSG00000132677ENST00000368246p.V357fs*23c.1065delGDeletion - Frameshift
DGKZENSG00000149091ENST00000343674p.P865fs*38c.2588delCDeletion - Frameshift
DGKZENSG00000149091ENST00000395574p.P815fs*38c.2438delCDeletion - Frameshift
C11orf74ENSG00000166352ENST00000334307p.E9Kc.25G>ASubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.E521Ec.1563G>ASubstitution - coding silent
ARHGAP19ENSG00000213390ENST00000358531p.S19Ic.56G>TSubstitution - Missense
PAPSS2ENSG00000198682ENST00000361175p.?c.381+3_381+7delaaaaaUnknown
ENST00000412131p.T1211Ac.3631A>GSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.T596Ac.1786A>GSubstitution - Missense
WNT3AENSG00000154342ENST00000284523p.Y260Cc.779A>GSubstitution - Missense
GJC2ENSG00000198835ENST00000366714p.A215Tc.643G>ASubstitution - Missense
RAP1GAPENSG00000076864ENST00000374765p.R128Qc.383G>ASubstitution - Missense
ENST00000374757p.R270Qc.809G>ASubstitution - Missense
HLXENSG00000136630ENST00000366903p.I178Fc.532A>TSubstitution - Missense
NM_033667.1p.G534Ec.1601G>ASubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.G534Ec.1601G>ASubstitution - Missense
ITGB1ENSG00000150093ENST00000423113p.G534Ec.1601G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.D1154Nc.3460G>ASubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.V73Ac.218T>CSubstitution - Missense
SART3ENSG00000075856ENST00000228284p.F251fs*31c.752delTDeletion - Frameshift
PCDH9ENSG00000184226ENST00000377865p.S337Pc.1009T>CSubstitution - Missense
CD101ENSG00000134256ENST00000369470p.Q762Rc.2285A>GSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.R345Hc.1034G>ASubstitution - Missense
TRIM45ENSG00000134253ENST00000256649p.K297Rc.890A>GSubstitution - Missense
TRIM45ENSG00000134253ENST00000256649p.K294Tc.881A>CSubstitution - Missense
RNF34ENSG00000170633ENST00000392464p.S181fs*35c.534_535insTInsertion - Frameshift
SRRM4ENSG00000139767ENST00000267260p.R153Mc.458G>TSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R153Mc.458G>TSubstitution - Missense
RIMS3ENSG00000117016ENST00000372683p.A37Vc.110C>TSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.T1270Tc.3810A>GSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.T433Ac.1297A>GSubstitution - Missense
HEYLENSG00000163909ENST00000372852p.M1Ic.3G>ASubstitution - Missense
HK1ENSG00000156515ENST00000298649p.A457Vc.1370C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.V230Ac.689T>CSubstitution - Missense
ENST00000417177p.V235Ac.704T>CSubstitution - Missense
PHYHIPLENSG00000165443ENST00000373880p.A133Ac.399A>GSubstitution - coding silent
PHYHIPLENSG00000165443ENST00000373880p.I153Vc.457A>GSubstitution - Missense
ENST00000358546p.L5Lc.15A>GSubstitution - coding silent
GDF10ENSG00000107623ENST00000224605p.P310Pc.930G>ASubstitution - coding silent
SSTR5ENSG00000162009ENST00000397547p.T347Tc.1041G>ASubstitution - coding silent
FAM161BENSG00000156050ENST00000286544p.K34Kc.102G>ASubstitution - coding silent
MLH3ENSG00000119684ENST00000355774p.N71Nc.213T>CSubstitution - coding silent
GPATCH2LENSG00000089916ENST00000261530p.R455Rc.1363A>CSubstitution - coding silent
GPATCH2LENSG00000089916ENST00000312858p.R450Rc.1348A>CSubstitution - coding silent
PCNXENSG00000100731ENST00000304743p.I2244Tc.6731T>CSubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.E650Vc.1949A>TSubstitution - Missense
FAM161BENSG00000156050ENST00000286544p.R605Pc.1814G>CSubstitution - Missense
ZMYND11ENSG00000015171ENST00000397962p.H486Yc.1456C>TSubstitution - Missense
ZMYND11ENSG00000015171ENST00000558098p.H486Yc.1456C>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.A806Vc.2417C>TSubstitution - Missense
FAM171A1ENSG00000148468ENST00000378116p.G698fs*47c.2093delGDeletion - Frameshift
TELO2ENSG00000100726ENST00000262319p.A656Ac.1968C>TSubstitution - coding silent
MTORENSG00000198793ENST00000361445p.T2509Ac.7525A>GSubstitution - Missense
CAPZA1ENSG00000116489ENST00000263168p.L192Pc.575T>CSubstitution - Missense
CARSENSG00000110619ENST00000380525p.A145Tc.433G>ASubstitution - Missense
CARSENSG00000110619ENST00000397111p.A62Tc.184G>ASubstitution - Missense
CARSENSG00000110619ENST00000397114p.A52Tc.154G>ASubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.I2671Ic.8013C>ASubstitution - coding silent
NM_182557.1p.M503Ic.1509G>TSubstitution - Missense
ENST00000392849p.M503Ic.1509G>TSubstitution - Missense
HTR3AENSG00000166736ENST00000355556p.Y346Cc.1037A>GSubstitution - Missense
C11orf71ENSG00000180425ENST00000325636p.A87fs*12c.256_257insAInsertion - Frameshift
SU_QSKp.M308Vc.922A>GSubstitution - Missense
CAPS2ENSG00000180881ENST00000409445p.R445Hc.1334G>ASubstitution - Missense
CAPS2ENSG00000180881ENST00000328705p.R213Hc.638G>ASubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.G1268Gc.3804C>TSubstitution - coding silent
SMG7ENSG00000116698ENST00000507469p.Q779Rc.2336A>GSubstitution - Missense
SOAT1ENSG00000057252ENST00000367619p.F382fs*69c.1140delTDeletion - Frameshift
PSMA1ENSG00000129084ENST00000418988p.R9Qc.26G>ASubstitution - Missense
NHLH1ENSG00000171786ENST00000302101p.H129Nc.385C>ASubstitution - Missense
SNIP1ENSG00000163877ENST00000296215p.K257fs*68c.771delADeletion - Frameshift
AGO1ENSG00000092847ENST00000373204p.V584Ic.1750G>ASubstitution - Missense
MEGF6ENSG00000162591ENST00000356575p.P1281Pc.3843G>CSubstitution - coding silent
MEGF6ENSG00000162591ENST00000356575p.A749fs*223c.2245delGDeletion - Frameshift
SRSF4ENSG00000116350ENST00000373795p.S255Tc.764G>CSubstitution - Missense
MECRENSG00000116353ENST00000263702p.C345*c.1035C>ASubstitution - Nonsense
DARS2ENSG00000117593ENST00000361951p.K235Rc.704A>GSubstitution - Missense
NME7ENSG00000143156ENST00000367811p.R44Hc.131G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.S1319fs*42c.3954_3955insAInsertion - Frameshift
ANO6ENSG00000177119ENST00000320560p.V530fs*4c.1583delADeletion - Frameshift
MUC19ENSG00000205592ENST00000425730p.?c.874-7T>CUnknown
CNNM2ENSG00000148842ENST00000369875p.V408Ac.1223T>CSubstitution - Missense
CALHM2ENSG00000138172ENST00000260743p.V28Ec.83T>ASubstitution - Missense
WDR11ENSG00000120008ENST00000263461p.N480fs*15c.1439_1440insAInsertion - Frameshift
PNLIPRP3ENSG00000203837ENST00000369230p.H423fs*4c.1266_1267insAInsertion - Frameshift
DPYDENSG00000188641ENST00000370192p.F707fs*4c.2121delTDeletion - Frameshift
ZNF326ENSG00000162664ENST00000340281p.P415Pc.1245T>CSubstitution - coding silent
MTF2ENSG00000143033ENST00000370298p.G397fs*23c.1180_1181insAInsertion - Frameshift
NM_022048p.L160Ic.478C>ASubstitution - Missense
ASB2ENSG00000100628ENST00000315988p.L122Mc.364C>ASubstitution - Missense
NM_175739.2p.V255Ac.764T>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.N6363Sc.19088A>GSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.G1674Wc.5020G>TSubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.A127Ac.381G>ASubstitution - coding silent
BMP4ENSG00000125378ENST00000559087p.S154Fc.461C>TSubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.D462Dc.1386T>CSubstitution - coding silent
KTN1ENSG00000126777ENST00000416613p.?c.2172+7C>TUnknown
SSX2IPENSG00000117155ENST00000342203p.L45Fc.135A>CSubstitution - Missense
ALG6ENSG00000088035ENST00000371108p.P467Pc.1401G>ASubstitution - coding silent
OR2L2ENSG00000203663ENST00000366479p.P57Sc.169C>TSubstitution - Missense
OR2T12ENSG00000177201ENST00000317996p.S214Pc.640T>CSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.S690Sc.2070C>TSubstitution - coding silent
PITPNM2ENSG00000090975ENST00000320201p.?c.2997+5G>TUnknown
TRIM66ENSG00000166436ENST00000299550p.P1065Sc.3193C>TSubstitution - Missense
FZD4ENSG00000174804ENST00000531380p.G276Sc.826G>ASubstitution - Missense
NARG2ENSG00000128915ENST00000261520p.K633fs*17c.1899delADeletion - Frameshift
PCF11ENSG00000165494ENST00000298281p.P269Pc.807C>TSubstitution - coding silent
CCPG1ENSG00000260916ENST00000310958p.S739fs*11c.2215delTDeletion - Frameshift
PYGO1ENSG00000171016ENST00000302000p.P85Hc.254C>ASubstitution - Missense
NUAK2ENSG00000163545ENST00000367157p.S3Sc.9G>TSubstitution - coding silent
NUAK2ENSG00000163545ENST00000367157p.S3Sc.9G>TSubstitution - coding silent
SECISBP2LENSG00000138593ENST00000261847p.R658Hc.1973G>ASubstitution - Missense
XM_046751.7p.R635Hc.1904G>ASubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.V397Ac.1190T>CSubstitution - Missense
ELF3ENSG00000163435ENST00000359651p.?c.385+2T>CUnknown
ELF3ENSG00000163435ENST00000359651p.?c.385+2T>CUnknown
RXFP4ENSG00000173080ENST00000368318p.L217*c.650T>ASubstitution - Nonsense
MIB2ENSG00000197530ENST00000355826p.T174Mc.521C>TSubstitution - Missense
CRTC2ENSG00000160741ENST00000368633p.?c.1862-10C>TUnknown
DCST2ENSG00000163354ENST00000368424p.Y647Cc.1940A>GSubstitution - Missense
ENST00000362017p.S169Ic.506G>TSubstitution - Missense
GATAD2BENSG00000143614ENST00000368655p.P429fs*17c.1286delCDeletion - Frameshift
LRMPENSG00000118308ENST00000354454p.?c.436_437+2delAAgtUnknown
ITPR2ENSG00000123104ENST00000381340p.V1763Ac.5288T>CSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.V1761Ac.5282T>CSubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.Y353Cc.1058A>GSubstitution - Missense
PCSK6ENSG00000140479ENST00000344273p.Y353Cc.1058A>GSubstitution - Missense
ENST00000331826_v68p.Y188Cc.563A>GSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.M304Ic.912G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.N435fs*19c.1304delADeletion - Frameshift
NINENSG00000100503ENST00000382041p.N435fs*19c.1304delADeletion - Frameshift
NINENSG00000100503ENST00000245441p.N435fs*19c.1304delADeletion - Frameshift
GPR137CENSG00000180998ENST00000321662p.P349Pc.1047T>CSubstitution - coding silent
BAZ1AENSG00000198604ENST00000382422p.Y116Cc.347A>GSubstitution - Missense
ZYG11BENSG00000162378ENST00000294353p.I701Tc.2102T>CSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.?c.2761+3delaUnknown
FBN1ENSG00000166147ENST00000316623p.N2223Sc.6668A>GSubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.A174Tc.520G>ASubstitution - Missense
SLC30A4ENSG00000104154ENST00000261867p.N423Sc.1268A>GSubstitution - Missense
POGKENSG00000143157ENST00000367875p.Y355Cc.1064A>GSubstitution - Missense
CTSKENSG00000143387ENST00000443913p.L67Pc.200T>CSubstitution - Missense
ARNTENSG00000143437ENST00000358595p.A687Tc.2059G>ASubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.?c.673+10A>GUnknown
ANXA9ENSG00000143412ENST00000368947p.M92Lc.274A>CSubstitution - Missense
POGZENSG00000143442ENST00000491586p.R449Kc.1346G>ASubstitution - Missense
PRPF3ENSG00000117360ENST00000324862p.K625Nc.1875G>CSubstitution - Missense
ENSAENSG00000143420ENST00000339643p.G102Gc.306A>GSubstitution - coding silent
ENSAENSG00000143420ENST00000513281p.G82Gc.246A>GSubstitution - coding silent
FBXO6ENSG00000116663ENST00000376753p.T122Ac.364A>GSubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.D1417Dc.4251C>TSubstitution - coding silent
FSCN3ENSG00000106328ENST00000265825p.G80Gc.240C>ASubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.V530Ac.1589T>CSubstitution - Missense
NELFCDENSG00000101158ENST00000344018p.Y238Hc.712T>CSubstitution - Missense
AURKAENSG00000087586ENST00000395909p.P110Hc.329C>ASubstitution - Missense
ENST00000343811_v68p.F768fs*38c.2303delTDeletion - Frameshift
VSIG10LENSG00000186806ENST00000335624p.?c.2574+10G>TUnknown
ETFBENSG00000105379ENST00000354232p.A140Vc.419C>TSubstitution - Missense
MED25ENSG00000104973ENST00000312865p.V433Ac.1298T>CSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.Q784Qc.2352G>ASubstitution - coding silent
ENST00000301415p.Q743Qc.2229G>ASubstitution - coding silent
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
WDR88ENSG00000166359ENST00000355868p.C440*c.1320C>ASubstitution - Nonsense
CHST8ENSG00000124302ENST00000262622p.D341Gc.1022A>GSubstitution - Missense
CHST8ENSG00000124302ENST00000262622p.P365Lc.1094C>TSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.L2986Lc.8958G>ASubstitution - coding silent
ENST00000300671p.?c.4667+5G>AUnknown
SEC14L1ENSG00000129657ENST00000392476p.?c.345+6T>AUnknown
ITGB4ENSG00000132470ENST00000200181p.C1553Rc.4657T>CSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.C1536Rc.4606T>CSubstitution - Missense
ZNF624ENSG00000197566ENST00000311331p.P667Pc.2001A>GSubstitution - coding silent
ZNF624ENSG00000197566ENST00000311331p.I512Vc.1534A>GSubstitution - Missense
TBC1D8BENSG00000133138ENST00000357242p.F903fs*12c.2705delTDeletion - Frameshift
FRMPD3ENSG00000147234ENST00000276185p.R1342fs*23c.4015_4016insGInsertion - Frameshift
VSIG1ENSG00000101842ENST00000217957p.R52*c.154C>TSubstitution - Nonsense
MED16ENSG00000175221ENST00000325464p.R350Cc.1048C>TSubstitution - Missense
MED16ENSG00000175221ENST00000325464p.S235Sc.705C>TSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.I1319Vc.3955A>GSubstitution - Missense
OR13H1ENSG00000171054ENST00000338616p.S64Nc.191G>ASubstitution - Missense
ZCCHC12ENSG00000174460ENST00000310164p.V255Ec.764T>ASubstitution - Missense
THOC2ENSG00000125676ENST00000245838p.A858Vc.2573C>TSubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.H418Yc.1252C>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.M475Tc.1424T>CSubstitution - Missense
ENST00000310210p.R18Hc.53G>ASubstitution - Missense
MYBL1ENSG00000185697ENST00000522677p.A347Tc.1039G>ASubstitution - Missense
ENST00000262211p.I197fs*14c.589_590insAInsertion - Frameshift
ENST00000262211p.E420fs*1c.1250_1251insTInsertion - Frameshift
NM_013257p.E353fs*1c.1049_1050insTInsertion - Frameshift
OPRK1ENSG00000082556ENST00000265572p.R257Rc.771G>CSubstitution - coding silent
FN1ENSG00000115414ENST00000354785p.A1730Vc.5189C>TSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.A948Vc.2843C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.E241Kc.721G>ASubstitution - Missense
FAM171BENSG00000144369ENST00000304698p.V105Ac.314T>CSubstitution - Missense
ZNF317ENSG00000130803ENST00000247956p.T327Mc.980C>TSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.R361Gc.1081C>GSubstitution - Missense
ACSF2ENSG00000167107ENST00000300441p.K173Tc.518A>CSubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.K223Ec.667A>GSubstitution - Missense
NM_032133.2p.K186Ec.556A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V6904Vc.20712C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V6904Vc.20712C>ASubstitution - coding silent
ENST00000331986p.V2537Vc.7611C>ASubstitution - coding silent
NPEPPSENSG00000141279ENST00000322157p.?c.1365+3delaUnknown
KPNB1ENSG00000108424ENST00000290158p.N343Kc.1029C>ASubstitution - Missense
OSBPL7ENSG00000006025ENST00000007414p.N501Nc.1503C>TSubstitution - coding silent
ARHGAP27ENSG00000159314ENST00000290470p.T239Mc.716C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.R1633Wc.4897C>TSubstitution - Missense
ENST00000355290p.K293fs*52c.875delADeletion - Frameshift
NPIPB15ENSG00000196436ENST00000429990p.K354fs*52c.1058delADeletion - Frameshift
RFWD3ENSG00000168411ENST00000361070p.V566Ac.1697T>CSubstitution - Missense
ENST00000318301p.N630Yc.1888A>TSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.L865Fc.2593C>TSubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.G88fs*11c.261delADeletion - Frameshift
DIO3ENSG00000197406ENST00000510508p.I67Tc.200T>CSubstitution - Missense
DIO3ENSG00000197406ENST00000359323p.I41Tc.122T>CSubstitution - Missense
TTLL2ENSG00000120440ENST00000239587p.P140Lc.419C>TSubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.F272Fc.816C>TSubstitution - coding silent
UBA7ENSG00000182179ENST00000333486p.G444Dc.1331G>ASubstitution - Missense
RHOAENSG00000067560ENST00000418115p.I151Mc.453T>GSubstitution - Missense
BSNENSG00000164061ENST00000296452p.T698Ac.2092A>GSubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.Y239Hc.715T>CSubstitution - Missense
APBB2ENSG00000163697ENST00000513140p.L253Lc.759G>ASubstitution - coding silent
DYRK1AENSG00000157540ENST00000398960p.T751Sc.2251A>TSubstitution - Missense
TOP2AENSG00000131747ENST00000423485p.S1117Sc.3351C>TSubstitution - coding silent
SEPT12ENSG00000140623ENST00000268231p.L298Pc.893T>CSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.L454Mc.1360C>ASubstitution - Missense
CYLDENSG00000083799ENST00000311559p.V41Gc.122T>GSubstitution - Missense
GCENSG00000145321ENST00000504199p.D344Dc.1032T>CSubstitution - coding silent
GCENSG00000145321ENST00000273951p.D325Dc.975T>CSubstitution - coding silent
SETD5ENSG00000168137ENST00000402198p.S1146Sc.3438A>GSubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.S34Sc.102C>TSubstitution - coding silent
STATHENSG00000126549ENST00000246895p.Q54Hc.162A>CSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.V1079fs*22c.3233_3234insCInsertion - Frameshift
RAD18ENSG00000070950ENST00000264926p.T371fs*2c.1111delADeletion - Frameshift
CNNM4ENSG00000158158ENST00000377075p.P567Ac.1699C>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.Y131Hc.391T>CSubstitution - Missense
ZNF2ENSG00000163067ENST00000340539p.C383Cc.1149C>TSubstitution - coding silent
COL6A1ENSG00000142156ENST00000361866p.A901Ac.2703C>TSubstitution - coding silent
TFF2ENSG00000160181ENST00000291526p.?c.376+2T>CUnknown
MUM1ENSG00000160953ENST00000344663p.A269Ac.807T>CSubstitution - coding silent
ZNF443ENSG00000180855ENST00000301547p.K511Nc.1533A>CSubstitution - Missense
DHPSENSG00000095059ENST00000210060p.R154fs*11c.460_461delAGDeletion - Frameshift
FBXW9ENSG00000132004ENST00000380339p.W306*c.917G>ASubstitution - Nonsense
SMARCA4ENSG00000127616ENST00000429416p.A778Ac.2334C>TSubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.L1956fs*1c.5867delTDeletion - Frameshift
RPRD1AENSG00000141425ENST00000319040p.S2Pc.4T>CSubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.S375Sc.1125C>TSubstitution - coding silent
DLGAP1ENSG00000170579ENST00000539435p.S73Sc.219C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000440014p.D368Nc.1102G>ASubstitution - Missense
PCYT2ENSG00000185813ENST00000538936p.Y280Fc.839A>TSubstitution - Missense
MYADML2ENSG00000185105ENST00000330655p.A63Tc.187G>ASubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.?c.4321+3A>GUnknown
CPDENSG00000108582ENST00000225719p.V433Gc.1298T>GSubstitution - Missense
SARM1ENSG00000004139ENST00000457710p.E429*c.1285G>TSubstitution - Nonsense
FOXN1ENSG00000109101ENST00000579795p.P583fs*5c.1743delCDeletion - Frameshift
RGS9ENSG00000108370ENST00000262406p.D282Gc.845A>GSubstitution - Missense
DDX42ENSG00000198231ENST00000578681p.S796Sc.2388C>TSubstitution - coding silent
RMDN1ENSG00000176623ENST00000406452p.G54Gc.162C>TSubstitution - coding silent
RIPK2ENSG00000104312ENST00000220751p.?c.1029+3_1029+9delaaaaaaaUnknown
PDP1ENSG00000164951ENST00000396200p.P35fs*8c.97delTDeletion - Frameshift
PDP1ENSG00000164951ENST00000297598p.P10fs*8c.22delTDeletion - Frameshift
PDP1ENSG00000164951ENST00000396200p.H467Rc.1400A>GSubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.A689Vc.2066C>TSubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.A689Vc.2066C>TSubstitution - Missense
SLC7A13ENSG00000164893ENST00000297524p.Y424Hc.1270T>CSubstitution - Missense
TNFRSF10AENSG00000104689ENST00000221132p.?c.630-6A>GUnknown
BMP1ENSG00000168487ENST00000354870p.R192Hc.575G>ASubstitution - Missense
AF381545.1p.L135Lc.405G>CSubstitution - coding silent
LRIG1ENSG00000144749ENST00000383703p.L135Lc.405G>CSubstitution - coding silent
UBA3ENSG00000144744ENST00000361055p.?c.1184+9T>AUnknown
PTPRGENSG00000144724ENST00000474889p.R2Wc.4C>TSubstitution - Missense
C9orf57ENSG00000204669ENST00000377024p.V139Vc.417C>ASubstitution - coding silent
ENST00000377024_v68p.V139Vc.417C>ASubstitution - coding silent
SMC5ENSG00000198887ENST00000361138p.F947fs*40c.2835delTDeletion - Frameshift
CNTNAP3ENSG00000106714ENST00000297668p.E278Kc.832G>ASubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.P1381Pc.4143T>CSubstitution - coding silent
RECKENSG00000122707ENST00000377966p.T354Ac.1060A>GSubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.?c.2463+8T>CUnknown
FANCGENSG00000221829ENST00000378643p.W451Lc.1352G>TSubstitution - Missense
ADAM2ENSG00000104755ENST00000265708p.V123Ic.367G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.P1651Pc.4953G>ASubstitution - coding silent
COPS4ENSG00000138663ENST00000264389p.Q35Pc.104A>CSubstitution - Missense
ACOX3ENSG00000087008ENST00000356406p.S125Gc.373A>GSubstitution - Missense
TRMT44ENSG00000155275ENST00000513449p.R410Gc.1228A>GSubstitution - Missense
NKX6-1ENSG00000163623ENST00000295886p.A360Tc.1078G>ASubstitution - Missense
GSTCDENSG00000138780ENST00000394730p.Q81Pc.242A>CSubstitution - Missense
NEK10ENSG00000163491ENST00000341435p.S386Lc.1157C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.S386Lc.1157C>TSubstitution - Missense
SU_NEK10p.S386Lc.1157C>TSubstitution - Missense
CLIP4ENSG00000115295ENST00000320081p.R641Mc.1922G>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.A662Vc.1985C>TSubstitution - Missense
PRKCGENSG00000126583ENST00000263431p.V433Mc.1297G>ASubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.V433Mc.1297G>ASubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.?c.1706-5C>GUnknown
PHKBENSG00000102893ENST00000323584p.F368Yc.1103T>ASubstitution - Missense
PHKBENSG00000102893ENST00000323584p.F368Yc.1103T>ASubstitution - Missense
PHKBENSG00000102893ENST00000566044p.F361Yc.1082T>ASubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.Q2084Qc.6252G>ASubstitution - coding silent
TRIM72ENSG00000177238ENST00000322122p.K149Nc.447G>CSubstitution - Missense
NXPE3ENSG00000144815ENST00000273347p.H149Dc.445C>GSubstitution - Missense
ALCAMENSG00000170017ENST00000306107p.A349Vc.1046C>TSubstitution - Missense
CD47ENSG00000196776ENST00000361309p.A231Vc.692C>TSubstitution - Missense
COA5ENSG00000183513ENST00000328709p.F55fs*>20c.165delTDeletion - Frameshift
EIF5BENSG00000158417ENST00000289371p.K98fs*83c.286delADeletion - Frameshift
EFR3BENSG00000084710ENST00000403714p.L664Mc.1990C>ASubstitution - Missense
C2orf54ENSG00000172478ENST00000388934p.L85fs*9c.253delCDeletion - Frameshift
PASKENSG00000115687ENST00000234040p.G802Sc.2404G>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.G802Sc.2404G>ASubstitution - Missense
STK25ENSG00000115694ENST00000316586p.L112Pc.335T>CSubstitution - Missense
C2orf69ENSG00000178074ENST00000319974p.K234*c.700A>TSubstitution - Nonsense
SGOL2ENSG00000163535ENST00000357799p.S163Sc.489A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G16404Cc.49210G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G10099Cc.30295G>TSubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.R825Qc.2474G>ASubstitution - Missense
MTX2ENSG00000128654ENST00000249442p.A143Gc.428C>GSubstitution - Missense
APMAPENSG00000101474ENST00000451442p.P399Hc.1196C>ASubstitution - Missense
CABLES1ENSG00000134508ENST00000256925p.H580Hc.1740C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000328092p.D272Dc.816C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.D272Dc.816C>TSubstitution - coding silent
ATP8B1ENSG00000081923ENST00000283684p.I864Vc.2590A>GSubstitution - Missense
TCEB3CL2ENSG00000266996ENST00000591973p.S361Lc.1082C>TSubstitution - Missense
SLC14A1ENSG00000141469ENST00000436407p.R170Mc.509G>TSubstitution - Missense
SLC14A1ENSG00000141469ENST00000321925p.R114Mc.341G>TSubstitution - Missense
JPH1ENSG00000104369ENST00000342232p.K387Nc.1161G>TSubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.I145Ic.435C>TSubstitution - coding silent
NM_004260.1p.R1182Hc.3545G>ASubstitution - Missense
ZNF250ENSG00000196150ENST00000292579p.T108Kc.323C>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.L53Pc.158T>CSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.G676Gc.2028T>CSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.T1425Ac.4273A>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T1288Ac.3862A>GSubstitution - Missense
SU_Erk7p.V4Vc.12A>GSubstitution - coding silent
TECPR1ENSG00000205356ENST00000379795p.A955Tc.2863G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.Q3613Qc.10839G>ASubstitution - coding silent
ARPC1AENSG00000241685ENST00000262942p.F111Ic.331T>ASubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.R314Rc.942C>TSubstitution - coding silent
DENND2AENSG00000146966ENST00000275884p.R887Rc.2661G>ASubstitution - coding silent
MLLT4ENSG00000130396ENST00000366806p.R1794Hc.5381G>ASubstitution - Missense
DACT2ENSG00000164488ENST00000366795p.G206Sc.616G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.W2621Lc.7862G>TSubstitution - Missense
ENST00000273600p.W2621Lc.7862G>TSubstitution - Missense
SEMA3GENSG00000010319ENST00000231721p.A433Vc.1298C>TSubstitution - Missense
NISCHENSG00000010322ENST00000345716p.R1411Hc.4232G>ASubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.E205Ec.615G>ASubstitution - coding silent
DAW1ENSG00000123977ENST00000309931p.G237Gc.711G>TSubstitution - coding silent
CHPFENSG00000123989ENST00000243776p.F669Vc.2005T>GSubstitution - Missense
SLC11A1ENSG00000018280ENST00000233202p.A478Tc.1432G>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.K311fs*65c.928delADeletion - Frameshift
GREB1ENSG00000196208ENST00000263834p.K311fs*65c.928delADeletion - Frameshift
DDX18ENSG00000088205ENST00000263239p.G524Gc.1572G>ASubstitution - coding silent
MARCOENSG00000019169ENST00000327097p.R332Pc.995G>CSubstitution - Missense
FOXD4L1ENSG00000184492ENST00000306507p.P92Lc.275C>TSubstitution - Missense
FOXD4L1ENSG00000184492ENST00000306507p.P254Pc.762C>GSubstitution - coding silent
ARSDENSG00000006756ENST00000381154p.H82Hc.246C>TSubstitution - coding silent
RBBP7ENSG00000102054ENST00000380087p.?c.885+6G>AUnknown
GPR64ENSG00000173698ENST00000357991p.A781Ac.2343A>GSubstitution - coding silent
SMSENSG00000102172ENST00000404933p.C248Yc.743G>ASubstitution - Missense
SMSENSG00000102172ENST00000415881p.C152Yc.455G>ASubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.L314fs*8c.934_935insTInsertion - Frameshift
CARD11ENSG00000198286ENST00000396946p.L1054Lc.3160C>TSubstitution - coding silent
OSBPL3ENSG00000070882ENST00000313367p.T738Tc.2214A>TSubstitution - coding silent
ECT2LENSG00000203734ENST00000367682p.V314Ac.941T>CSubstitution - Missense
ENST00000237275_v68p.E173fs*29c.510delADeletion - Frameshift
MAP3K5ENSG00000197442ENST00000359015p.E582Dc.1746G>TSubstitution - Missense
ECT2LENSG00000203734ENST00000367682p.P207Hc.620C>ASubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.S293Sc.879C>TSubstitution - coding silent
ENSG00000228259ENST00000418535p.R150Cc.448C>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.A366Tc.1096G>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.S121fs*13c.360_361insCInsertion - Frameshift
PCDH10ENSG00000138650ENST00000264360p.L825Pc.2474T>CSubstitution - Missense
LARP7ENSG00000174720ENST00000324052p.K25Ec.73A>GSubstitution - Missense
NDST3ENSG00000164100ENST00000296499p.Q173*c.517C>TSubstitution - Nonsense
TIPARPENSG00000163659ENST00000295924p.R329*c.985C>TSubstitution - Nonsense
NM_005496.2p.E1004Ec.3012A>GSubstitution - coding silent
DHX36ENSG00000174953ENST00000496811p.G46fs*44c.129_130insGInsertion - Frameshift
DNAH6ENSG00000115423ENST00000237449p.M3611Vc.10831A>GSubstitution - Missense
SLC12A4ENSG00000124067ENST00000316341p.?c.3166+3A>TUnknown
SLC12A4ENSG00000124067ENST00000316341p.D1053Ac.3158A>CSubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.P371Tc.1111C>ASubstitution - Missense
ZNF319ENSG00000166188ENST00000299237p.G282Gc.846C>TSubstitution - coding silent
NDRG4ENSG00000103034ENST00000394279p.P46Pc.138C>ASubstitution - coding silent
FBXL17ENSG00000145743ENST00000542267p.A345Tc.1033G>ASubstitution - Missense
TMEM232ENSG00000186952ENST00000455884p.L306Lc.918G>TSubstitution - coding silent
TMEM232ENSG00000186952ENST00000429839p.L306Lc.918G>TSubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
DLEC1ENSG00000008226ENST00000308059p.I386Fc.1156A>TSubstitution - Missense
TRIM71ENSG00000206557ENST00000383763p.R496Cc.1486C>TSubstitution - Missense
GLB1ENSG00000170266ENST00000445488p.N717fs*>9c.2150delADeletion - Frameshift
EDARENSG00000135960ENST00000258443p.?c.1024+2T>CUnknown
NPHP1ENSG00000144061ENST00000316534p.N146Dc.436A>GSubstitution - Missense
GRHL1ENSG00000134317ENST00000324907p.S610fs*6c.1822delGDeletion - Frameshift
NCK2ENSG00000071051ENST00000233154p.T80Mc.239C>TSubstitution - Missense
NCK2ENSG00000071051ENST00000233154p.T80Mc.239C>TSubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.L1517Pc.4550T>CSubstitution - Missense
SLC16A11ENSG00000174326ENST00000308009p.?c.418+2T>GUnknown
IQSEC2ENSG00000124313ENST00000396435p.P1467fs*>22c.4400delCDeletion - Frameshift
XM_291345.2p.?c.3937-9delcUnknown
XM_497119.1p.L2665Lc.7995G>ASubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.P388Tc.1162C>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.P313Tc.937C>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.T429Tc.1287T>CSubstitution - coding silent
RBM3ENSG00000102317ENST00000430348p.?c.332-3C>TUnknown
HDAC6ENSG00000094631ENST00000334136p.G1059Gc.3177C>TSubstitution - coding silent
GPR173ENSG00000184194ENST00000332582p.V74Ic.220G>ASubstitution - Missense
USP9XENSG00000124486ENST00000324545p.K1788fs*10c.5359delADeletion - Frameshift
UBA1ENSG00000130985ENST00000377351p.P594Pc.1782A>GSubstitution - coding silent
HOOK3ENSG00000168172ENST00000307602p.M348Ic.1044G>ASubstitution - Missense
FGGENSG00000171557ENST00000336098p.T379Ac.1135A>GSubstitution - Missense
OTUD4ENSG00000164164ENST00000447906p.C555Rc.1663T>CSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.L780Lc.2340G>ASubstitution - coding silent
SLC10A7ENSG00000120519ENST00000335472p.M175Vc.523A>GSubstitution - Missense
POTEJENSG00000222038ENST00000409602p.R758Hc.2273G>ASubstitution - Missense
ENST00000409602_v68p.R758Hc.2273G>ASubstitution - Missense
TUBA3DENSG00000075886ENST00000321253p.V235Mc.703G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.P986Lc.2957C>TSubstitution - Missense
HSD3B7ENSG00000099377ENST00000297679p.L290Pc.869T>CSubstitution - Missense
BAXENSG00000087088ENST00000345358p.E41fs*33c.121_122insGInsertion - Frameshift
EHD2ENSG00000024422ENST00000263277p.R87Rc.261C>TSubstitution - coding silent
CCDC114ENSG00000105479ENST00000315396p.A199Vc.596C>TSubstitution - Missense
DHX34ENSG00000134815ENST00000328771p.A931Tc.2791G>ASubstitution - Missense
ZNF100ENSG00000197020ENST00000305570p.T139Tc.417T>CSubstitution - coding silent
ZNF43ENSG00000198521ENST00000354959p.G684Sc.2050G>ASubstitution - Missense
TSSK6ENSG00000178093ENST00000360913p.A161Ac.483C>ASubstitution - coding silent
ATP13A1ENSG00000105726ENST00000357324p.P1123Sc.3367C>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.Q856Qc.2568G>ASubstitution - coding silent
JAK3ENSG00000105639ENST00000458235p.K830Mc.2489A>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.K830Mc.2489A>TSubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.I313Lc.937A>CSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.T489Pc.1465A>CSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.M476Lc.1426A>TSubstitution - Missense
ENST00000359737p.M476Lc.1426A>TSubstitution - Missense
LRRC25ENSG00000175489ENST00000339007p.A226Tc.676G>ASubstitution - Missense
SSBP4ENSG00000130511ENST00000270061p.A113Ac.339C>TSubstitution - coding silent
OGTENSG00000147162ENST00000373719p.I721Vc.2161A>GSubstitution - Missense
ZC4H2ENSG00000126970ENST00000447788p.A61Tc.181G>ASubstitution - Missense
EFNB1ENSG00000090776ENST00000204961p.A340Vc.1019C>TSubstitution - Missense
AWAT2ENSG00000147160ENST00000276101p.H215Hc.645T>CSubstitution - coding silent
PLIN2ENSG00000147872ENST00000276914p.T396Mc.1187C>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.Q865Hc.2595G>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.Q865Hc.2595G>TSubstitution - Missense
NDOR1ENSG00000188566ENST00000371521p.S569Sc.1707G>ASubstitution - coding silent
FUT7ENSG00000180549ENST00000314412p.F271Sc.812T>CSubstitution - Missense
ENTPD2ENSG00000054179ENST00000355097p.S239Nc.716G>ASubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.?c.984+2T>CUnknown
POM121ENSG00000196313ENST00000395270p.E358Dc.1074G>TSubstitution - Missense
ZNF679ENSG00000197123ENST00000421025p.C217Cc.651C>TSubstitution - coding silent
TMEM248ENSG00000106609ENST00000341567p.E155Gc.464A>GSubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.I57fs*1c.169delADeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.F4349Lc.13045T>CSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.G321_L384>VNSMPc.962_1151>13Complex - deletion inframe
MUC17ENSG00000169876ENST00000306151p.S500Sc.1500C>TSubstitution - coding silent
ACTL6BENSG00000077080ENST00000160382p.A211Vc.632C>TSubstitution - Missense
NFYAENSG00000001167ENST00000341376p.Y266Cc.797A>GSubstitution - Missense
FANCEENSG00000112039ENST00000229769p.G174Ec.521G>ASubstitution - Missense
FKBP5ENSG00000096060ENST00000536438p.?c.841-3T>AUnknown
DMGDHENSG00000132837ENST00000255189p.A816Vc.2447C>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000521381p.L570_I571insLc.1707_1708insCTTInsertion - In frame
PIK3R1ENSG00000145675ENST00000320694p.L270_I271insLc.807_808insCTTInsertion - In frame
MARVELD2ENSG00000152939ENST00000325631p.R457Hc.1370G>ASubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.R35Qc.104G>ASubstitution - Missense
TMEM174ENSG00000164325ENST00000296776p.S31Sc.93C>TSubstitution - coding silent
PTPN23ENSG00000076201ENST00000265562p.L976Ic.2926C>ASubstitution - Missense
LRRC2ENSG00000163827ENST00000296144p.D188Dc.564T>CSubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.E718delEc.2154_2156delGGADeletion - In frame
SBF1ENSG00000100241ENST00000390679p.E718delEc.2154_2156delGGADeletion - In frame
CELSR1ENSG00000075275ENST00000262738p.Y1671Cc.5012A>GSubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.T362Mc.1085C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000450726p.S362Sc.1086C>TSubstitution - coding silent
EHBP1ENSG00000115504ENST00000263991p.V71delVc.204_206delTGTDeletion - In frame
EML6ENSG00000214595ENST00000356458p.T300Tc.900C>ASubstitution - coding silent
GPR75ENSG00000119737ENST00000394705p.G127_F128delGFc.379_384delGGCTTCDeletion - In frame
SEC16AENSG00000148396ENST00000313050p.Y1264Nc.3790T>ASubstitution - Missense
NM_014866.1p.Y1264Nc.3790T>ASubstitution - Missense
RALGDSENSG00000160271ENST00000372050p.E840Vc.2519A>TSubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.E911Vc.2732A>TSubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.V160Ac.479T>CSubstitution - Missense
B3GNT5ENSG00000176597ENST00000326505p.L25fs*1c.69delTDeletion - Frameshift
NM_024947.2p.S409Sc.1227A>GSubstitution - coding silent
ENST00000437720p.T311Tc.933G>ASubstitution - coding silent
WDR62ENSG00000075702ENST00000270301p.V1439Ac.4316T>CSubstitution - Missense
NPHS1ENSG00000161270ENST00000378910p.L557Pc.1670T>CSubstitution - Missense
NPHS1ENSG00000161270ENST00000378910p.T233Ic.698C>TSubstitution - Missense
TRIM37ENSG00000108395ENST00000262294p.R152Qc.455G>ASubstitution - Missense
VEZF1ENSG00000136451ENST00000581208p.F202Vc.604T>GSubstitution - Missense
MBTD1ENSG00000011258ENST00000586178p.?c.1063+8C>GUnknown
ENST00000393180p.?c.571+8C>GUnknown
STAT5AENSG00000126561ENST00000345506p.S543Sc.1629C>TSubstitution - coding silent
ATP6V0A1ENSG00000033627ENST00000343619p.M186Tc.557T>CSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.V608fs*7c.1822_1823insGInsertion - Frameshift
SIX2ENSG00000170577ENST00000303077p.P236Lc.707C>TSubstitution - Missense
SIX2ENSG00000170577ENST00000303077p.Y148Cc.443A>GSubstitution - Missense
PIGFENSG00000151665ENST00000281382p.W181Lc.542G>TSubstitution - Missense
NDUFAF7ENSG00000003509ENST00000002125p.S115fs*21c.339delADeletion - Frameshift
RDM1ENSG00000187456ENST00000293273p.P52Sc.154C>TSubstitution - Missense
RDM1ENSG00000187456ENST00000394528p.P52Sc.154C>TSubstitution - Missense
DHRS11ENSG00000108272ENST00000251312p.V173Ic.517G>ASubstitution - Missense
RANBP9ENSG00000010017ENST00000011619p.K649Rc.1946A>GSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.E838Ec.2514A>GSubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.M2517Tc.7550T>CSubstitution - Missense
ANKS6ENSG00000165138ENST00000353234p.E188Ec.564G>ASubstitution - coding silent
OR13C2ENSG00000257019ENST00000542196p.T7Pc.19A>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G1226Dc.3677G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.G1186Dc.3557G>ASubstitution - Missense
SLC17A5ENSG00000119899ENST00000355773p.?c.1112-2A>GUnknown
PHF3ENSG00000118482ENST00000262043p.S1873fs*15c.5612_5613delCTDeletion - Frameshift
COL9A1ENSG00000112280ENST00000357250p.M662Vc.1984A>GSubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.M419Vc.1255A>GSubstitution - Missense
DSTENSG00000151914ENST00000370754p.A154Vc.461C>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.C541Yc.1622G>ASubstitution - Missense
CDC40ENSG00000168438ENST00000368932p.H282Rc.845A>GSubstitution - Missense
RPF2ENSG00000197498ENST00000441448p.N306fs*>2c.917_918insAInsertion - Frameshift
TSPYL1ENSG00000189241ENST00000368608p.S365Sc.1095C>ASubstitution - coding silent
TRAPPC3LENSG00000173626ENST00000368602p.L55Pc.164T>CSubstitution - Missense
ENST00000368602_v68p.L55Pc.164T>CSubstitution - Missense
SOBPENSG00000112320ENST00000317357p.G799fs*29c.2391delGDeletion - Frameshift
TFAP2AENSG00000137203ENST00000319516p.F375Sc.1124T>CSubstitution - Missense
TFAP2AENSG00000137203ENST00000379608p.F373Sc.1118T>CSubstitution - Missense
GTPBP1ENSG00000100226ENST00000216044p.H231Hc.693C>TSubstitution - coding silent
CYTH4ENSG00000100055ENST00000248901p.E156Dc.468G>TSubstitution - Missense
TXNDC2ENSG00000168454ENST00000306084p.S273Sc.819A>GSubstitution - coding silent
TXNDC2ENSG00000168454ENST00000357775p.S206Sc.618A>GSubstitution - coding silent
TNMDENSG00000000005ENST00000373031p.Y286Cc.857A>GSubstitution - Missense
SERPINB7ENSG00000166396ENST00000336429p.V146Vc.438T>CSubstitution - coding silent
SERPINB8ENSG00000166401ENST00000397985p.A208Tc.622G>ASubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.V27Lc.79G>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.I2319Mc.6957C>GSubstitution - Missense
KIAA0825ENSG00000185261ENST00000329378p.H9Rc.26A>GSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.H9Rc.26A>GSubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.K383fs*20c.1141_1142delAADeletion - Frameshift
SLC22A4ENSG00000197208ENST00000200652p.R2Rc.4C>ASubstitution - coding silent
CCDC149ENSG00000181982ENST00000504487p.K26Rc.77A>GSubstitution - Missense
PDLIM3ENSG00000154553ENST00000284770p.C341Cc.1023C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.V1878fs*8c.5624_5625insCInsertion - Frameshift
FAT1ENSG00000083857ENST00000441802p.V1878fs*8c.5624_5625insCInsertion - Frameshift
FHDC1ENSG00000137460ENST00000260008p.A886fs*9c.2652delGDeletion - Frameshift
KLHL6ENSG00000172578ENST00000341319p.A451Vc.1352C>TSubstitution - Missense
CERCAMENSG00000167123ENST00000372842p.A275Tc.823G>ASubstitution - Missense
ENST00000355850p.G28Dc.83G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.?c.754+6C>TUnknown
PHF20L1ENSG00000129292ENST00000220847p.?c.1831+10A>GUnknown
CERS6ENSG00000172292ENST00000305747p.I343Vc.1027A>GSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.G118Gc.354T>GSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.S116Pc.346T>CSubstitution - Missense
UBR3ENSG00000144357ENST00000392632p.M62Tc.185T>CSubstitution - Missense
UBR3ENSG00000144357ENST00000392632p.L597Fc.1791A>TSubstitution - Missense
SLC2A11ENSG00000133460ENST00000398356p.G359Rc.1075G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NM_017760.4p.?c.837+2T>CUnknown
EPHA5ENSG00000145242ENST00000273854p.I126Ic.378C>ASubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.L1459Pc.4376T>CSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.A903Ac.2709C>ASubstitution - coding silent
TPOENSG00000115705ENST00000345913p.D300Ec.900C>ASubstitution - Missense
ORC4ENSG00000115947ENST00000264169p.L24*c.71T>GSubstitution - Nonsense
SLC12A5ENSG00000124140ENST00000243964p.P818Pc.2454T>CSubstitution - coding silent
DBNDD2ENSG00000244274ENST00000372720p.A105Vc.314C>TSubstitution - Missense
DBNDD2ENSG00000244274ENST00000372717p.A7Vc.20C>TSubstitution - Missense
LPIN3ENSG00000132793ENST00000373257p.D637Dc.1911C>TSubstitution - coding silent
PSG2ENSG00000242221ENST00000406487p.V207Ic.619G>ASubstitution - Missense
POU2F2ENSG00000028277ENST00000389341p.A83Tc.247G>ASubstitution - Missense
ZNF526ENSG00000167625ENST00000301215p.C202Cc.606C>TSubstitution - coding silent
GSK3AENSG00000105723ENST00000222330p.N350fs*11c.1047_1048insCInsertion - Frameshift
ENST00000319396p.K1317Tc.3950A>CSubstitution - Missense
RASAL3ENSG00000105122ENST00000343625p.L240Mc.718C>ASubstitution - Missense
TCF3ENSG00000071564ENST00000344749p.E564Gc.1691A>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.S3045fs*31c.9133delTDeletion - Frameshift
VPS13BENSG00000132549ENST00000358544p.G2206Gc.6618A>GSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.G2181Gc.6543A>GSubstitution - coding silent
FBXO43ENSG00000156509ENST00000428847p.I129Nc.386T>ASubstitution - Missense
PHKG1ENSG00000164776ENST00000297373p.R367Qc.1100G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.Q4963Rc.14888A>GSubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.Y973Fc.2918A>TSubstitution - Missense
FASTKENSG00000164896ENST00000297532p.S338fs*15c.1012delTDeletion - Frameshift
OR2F2ENSG00000221910ENST00000408955p.A198Vc.593C>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.G55Gc.165T>CSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.A1124Dc.3371C>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.A1124Dc.3371C>ASubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.R453Hc.1358G>ASubstitution - Missense
ZKSCAN3ENSG00000189298ENST00000377255p.R107Qc.320G>ASubstitution - Missense
HMMRENSG00000072571ENST00000358715p.E213Dc.639G>TSubstitution - Missense
FAM114A2ENSG00000055147ENST00000351797p.I92Tc.275T>CSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.D636Gc.1907A>GSubstitution - Missense
TCOF1ENSG00000070814ENST00000323668p.T76Tc.228C>ASubstitution - coding silent
ZNF300ENSG00000145908ENST00000394226p.T486Tc.1458A>GSubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.L2972Mc.8914C>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.?c.4297-2A>GUnknown
PCDHA11ENSG00000249158ENST00000398640p.P457Pc.1371C>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.I1855fs*16c.5563delADeletion - Frameshift
GPR50ENSG00000102195ENST00000218316p.D449Gc.1346A>GSubstitution - Missense
NM_004224.1p.D449Gc.1346A>GSubstitution - Missense
SPANXCENSG00000198573ENST00000358993p.M42fs*5c.117_118insAInsertion - Frameshift
MAGEC1ENSG00000155495ENST00000285879p.L559Lc.1677A>GSubstitution - coding silent
FMR1ENSG00000102081ENST00000370475p.H355fs*15c.1054_1055insAInsertion - Frameshift
ADCYAP1R1ENSG00000078549ENST00000304166p.?c.670-4G>AUnknown
BMPERENSG00000164619ENST00000297161p.D636Gc.1907A>GSubstitution - Missense
EIF3KENSG00000178982ENST00000248342p.Q186*c.556C>TSubstitution - Nonsense
SARS2ENSG00000104835ENST00000430193p.G515_Q516insLPGc.1529_1530insGCCTGGGCTInsertion - In frame
SARS2ENSG00000104835ENST00000221431p.G513_Q514insLPGc.1523_1524insGCCTGGGCTInsertion - In frame
ASPNENSG00000106819ENST00000375544p.D51_E52insDDc.113_114insTGATGAInsertion - In frame
VPS13AENSG00000197969ENST00000360280p.T1637Ac.4909A>GSubstitution - Missense
CTCFLENSG00000124092ENST00000426658p.S410Sc.1230C>TSubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.N585Sc.1754A>GSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.K579Kc.1737G>ASubstitution - coding silent
ENST00000451442_v70p.P399Hc.1196C>ASubstitution - Missense
EDEM2ENSG00000088298ENST00000540582p.F161Yc.482T>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.?c.34+1G>AUnknown
MED16ENSG00000175221ENST00000312090p.R350Cc.1048C>TSubstitution - Missense
MED16ENSG00000175221ENST00000312090p.S235Sc.705C>TSubstitution - coding silent
UQCRFS1ENSG00000169021ENST00000304863p.I154Tc.461T>CSubstitution - Missense
ENST00000397179p.L24Lc.72G>ASubstitution - coding silent
NDUFA13ENSG00000186010ENST00000512771p.L146Lc.438G>ASubstitution - coding silent
ATP13A1ENSG00000105726ENST00000291503p.P1005Sc.3013C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.S375Sc.1125C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000380702p.D407Nc.1219G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.G1930Gc.5790T>CSubstitution - coding silent
ATP6V0A1ENSG00000033627ENST00000264649p.M193Tc.578T>CSubstitution - Missense
NDRG4ENSG00000103034ENST00000563799p.P14Pc.42C>ASubstitution - coding silent
NDRG4ENSG00000103034ENST00000570248p.P14Pc.42C>ASubstitution - coding silent
SLC12A4ENSG00000124067ENST00000537830p.?c.3148+3A>TUnknown
SLC12A4ENSG00000124067ENST00000541864p.D1022Ac.3065A>CSubstitution - Missense
SERPINA9ENSG00000170054ENST00000546329p.V219Ac.656T>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.N2748Sc.8243A>GSubstitution - Missense
SSX2IPENSG00000117155ENST00000370612p.L45Fc.135A>CSubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.?c.3186+8T>CUnknown
ENST00000569393_v68p.I135Tc.404T>CSubstitution - Missense
TEX38ENSG00000186118ENST00000569393p.I135Tc.404T>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.G365Dc.1094G>ASubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.Q680Hc.2040G>CSubstitution - Missense
PLD5ENSG00000180287ENST00000427495p.C46Rc.136T>CSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.V1395Ac.4184T>CSubstitution - Missense
ENST00000406302p.P727Sc.2179C>TSubstitution - Missense
SARSENSG00000031698ENST00000369923p.G198Gc.594G>ASubstitution - coding silent
RIMBP2ENSG00000060709ENST00000536002p.S598Sc.1794C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.P2346Sc.7036C>TSubstitution - Missense
PITPNM2ENSG00000090975ENST00000280562p.?c.2979+5G>TUnknown
OR51B4ENSG00000183251ENST00000380224p.V21Ac.62T>CSubstitution - Missense
OR51I2ENSG00000187918ENST00000341449p.C32Cc.96C>TSubstitution - coding silent
OR52D1ENSG00000181609ENST00000322641p.A36Vc.107C>TSubstitution - Missense
SLC39A13ENSG00000165915ENST00000362021p.F230Lc.688T>CSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.L1029Mc.3085C>ASubstitution - Missense
ENST00000396394_v70p.R3Qc.8G>ASubstitution - Missense
RBM17ENSG00000134453ENST00000447032p.?c.225+4A>CUnknown
CALHM2ENSG00000138172ENST00000393235p.V28Ec.83T>ASubstitution - Missense
HK1ENSG00000156515ENST00000360289p.A446Vc.1337C>TSubstitution - Missense
CTCFLENSG00000124092ENST00000423479p.S410Sc.1230C>TSubstitution - coding silent
RHAGENSG00000112077ENST00000371175p.P138Sc.412C>TSubstitution - Missense
RUNX2ENSG00000124813ENST00000352853p.S362Pc.1084T>CSubstitution - Missense
RUNX2ENSG00000124813ENST00000465038p.S294Pc.880T>CSubstitution - Missense
CD2APENSG00000198087ENST00000359314p.P389Pc.1167C>GSubstitution - coding silent
C6orf1ENSG00000186577ENST00000394990p.S111fs*21c.332_333delCTDeletion - Frameshift
KIFC1ENSG00000237649ENST00000428849p.V313Ac.938T>CSubstitution - Missense
PHF1ENSG00000112511ENST00000374516p.S391Sc.1173A>GSubstitution - coding silent
TAP2ENSG00000204267ENST00000374897p.R626Wc.1876C>TSubstitution - Missense
NELFEENSG00000204356ENST00000375429p.A349Sc.1045G>TSubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.?c.763+1G>AUnknown
NM_139056.1p.?c.763+1G>AUnknown
GZMAENSG00000145649ENST00000274306p.S207Sc.621G>ASubstitution - coding silent
ENST00000341213p.V110Mc.328G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.T2736Tc.8208C>ASubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.T2615Tc.7845C>ASubstitution - coding silent
SH3RF1ENSG00000154447ENST00000284637p.P328Hc.983C>ASubstitution - Missense
SH3RF1ENSG00000154447ENST00000284637p.D2Dc.6T>CSubstitution - coding silent
KNG1ENSG00000113889ENST00000265023p.V309Vc.927A>GSubstitution - coding silent
MASP1ENSG00000127241ENST00000296280p.P689fs*2c.2056_2057insGInsertion - Frameshift
SS18L1ENSG00000184402ENST00000370848p.I182Tc.545T>CSubstitution - Missense
NM_013257p.I130fs*14c.388_389insAInsertion - Frameshift
ZNF699ENSG00000196110ENST00000308650p.K506Kc.1518A>GSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.T791Tc.2373T>GSubstitution - coding silent
CRISPLD2ENSG00000103196ENST00000262424p.P400Pc.1200G>ASubstitution - coding silent
ENST00000280576p.?c.5774+7G>AUnknown
PRG4ENSG00000116690ENST00000445192p.T478Ac.1432A>GSubstitution - Missense
GRIP1ENSG00000155974ENST00000398016p.P644Hc.1931C>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.W2122Rc.6364T>CSubstitution - Missense
RSG1ENSG00000132881ENST00000375599p.R148Cc.442C>TSubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.S478Sc.1434A>GSubstitution - coding silent
ENST00000329336p.T192Tc.576C>TSubstitution - coding silent
ZBTB3ENSG00000185670ENST00000394807p.P450Tc.1348C>ASubstitution - Missense
ENST00000388884p.?c.559+5_559+10delggagaaUnknown
ASPGENSG00000166183ENST00000551177p.T503Tc.1509G>ASubstitution - coding silent
IBA57ENSG00000181873ENST00000366711p.?c.679+3A>GUnknown
TP53BP2ENSG00000143514ENST00000391878p.?c.1098+2T>CUnknown
HERC1ENSG00000103657ENST00000443617p.V1879fs*26c.5634delADeletion - Frameshift
TNKSENSG00000173273ENST00000310430p.T508fs*33c.1516delADeletion - Frameshift
PKD1L1ENSG00000158683ENST00000289672p.H358fs*22c.1071delTDeletion - Frameshift
SLITRK1ENSG00000178235ENST00000377084p.L65Mc.193C>ASubstitution - Missense
DLSTENSG00000119689ENST00000334220p.A171Vc.512C>TSubstitution - Missense
SETENSG00000119335ENST00000372692p.?c.313+2T>CUnknown
RPS4XENSG00000198034ENST00000373626p.G25Dc.74G>ASubstitution - Missense
SLC7A13ENSG00000164893ENST00000297524p.S126fs*20c.372delTDeletion - Frameshift
HDAC6ENSG00000094631ENST00000444343p.G1073Gc.3219C>TSubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000358144p.E190Kc.568G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.G643Vc.1928G>TSubstitution - Missense
CNTLNENSG00000044459ENST00000380641p.R253Gc.757C>GSubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.D1448Dc.4344C>TSubstitution - coding silent
SETENSG00000119335ENST00000372688p.?c.241+2T>CUnknown
PLECENSG00000178209ENST00000356346p.T1274Ac.3820A>GSubstitution - Missense
BMP1ENSG00000168487ENST00000397816p.R192Hc.575G>ASubstitution - Missense
BMP1ENSG00000168487ENST00000397814p.R192Hc.575G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.G1593Gc.4779C>ASubstitution - coding silent
MAPK15ENSG00000181085ENST00000395107p.V4Vc.12A>GSubstitution - coding silent
NCAPG2ENSG00000146918ENST00000409423p.?c.837+2T>CUnknown
MUC12ENSG00000205277ENST00000379442p.F4492Lc.13474T>CSubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.I309Vc.925A>GSubstitution - Missense
ZNF300ENSG00000145908ENST00000446148p.T502Tc.1506A>GSubstitution - coding silent
TCOF1ENSG00000070814ENST00000394269p.T76Tc.228C>ASubstitution - coding silent
ZNF737ENSG00000237440ENST00000427401p.C123Cc.369T>CSubstitution - coding silent
BMP1ENSG00000168487ENST00000397816p.N614fs*165c.1833delCDeletion - Frameshift
ASPNENSG00000106819ENST00000395538p.D51_E52insDDc.113_114insTGATGAInsertion - In frame
SAGE1ENSG00000181433ENST00000535938p.I823fs*2c.2467_2468insAInsertion - Frameshift
DHX36ENSG00000174953ENST00000544526p.M154fs*27c.460delADeletion - Frameshift
DHX36ENSG00000174953ENST00000544526p.G46fs*44c.129_130insGInsertion - Frameshift
JARID2ENSG00000008083ENST00000541660p.R387fs*36c.1152delGDeletion - Frameshift
EPB41L3ENSG00000082397ENST00000544123p.K173fs*14c.519delADeletion - Frameshift
GRHL1ENSG00000134317ENST00000405379p.S610fs*6c.1822delGDeletion - Frameshift
ZNF687ENSG00000143373ENST00000368879p.H733fs*30c.2191delCDeletion - Frameshift
NINENSG00000100503ENST00000453196p.N435fs*19c.1304delADeletion - Frameshift
APBB2ENSG00000163697ENST00000295974p.L253Lc.759G>ASubstitution - coding silent
C10orf82ENSG00000165863ENST00000588184p.?c.559+5_559+10delggagaaUnknown
INPP5FENSG00000198825ENST00000369080p.I65fs*3c.188delADeletion - Frameshift
CTNND1ENSG00000198561ENST00000399050p.K634fs*3c.1897delADeletion - Frameshift
CTNND1ENSG00000198561ENST00000361391p.K628fs*3c.1879delADeletion - Frameshift
CNNM4ENSG00000158158ENST00000540067p.P54Ac.160C>GSubstitution - Missense
HNRNPLLENSG00000143889ENST00000410076p.Y226Cc.677A>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.T2166Ac.6496A>GSubstitution - Missense
EDARENSG00000135960ENST00000409271p.?c.1120+2T>CUnknown
APOL6ENSG00000221963ENST00000409652p.A22Vc.65C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000342247p.T315Sc.944C>GSubstitution - Missense
SLC2A11ENSG00000133460ENST00000345044p.G352Rc.1054G>ASubstitution - Missense
ENST00000532796p.Y191Cc.572A>GSubstitution - Missense
KRTAP10-7ENSG00000205441ENST00000380102p.R346Hc.1037G>ASubstitution - Missense
SU_KSR1p.D322Dc.966C>TSubstitution - coding silent
AATKENSG00000181409ENST00000326724p.A672Gc.2015C>GSubstitution - Missense
DLGAP1ENSG00000170579ENST00000534970p.S87Sc.261C>TSubstitution - coding silent
SHANK1ENSG00000161681ENST00000293441p.T361Tc.1083C>GSubstitution - coding silent
CASS4ENSG00000087589ENST00000360314p.P136Hc.407C>ASubstitution - Missense
RFX2ENSG00000087903ENST00000303657p.Q472Rc.1415A>GSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.D2988fs*2c.8962_8963insGInsertion - Frameshift
SH2D3AENSG00000125731ENST00000245908p.G460Gc.1380C>TSubstitution - coding silent
NM_006192.1p.?c.635-6C>AUnknown
KIF23ENSG00000137807ENST00000537891p.E11Kc.31G>ASubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.E333Kc.997G>ASubstitution - Missense
RBM17ENSG00000134453ENST00000379888p.?c.505+4A>CUnknown
HIST2H2BFENSG00000203814ENST00000369167p.S39Sc.117C>TSubstitution - coding silent
CCDC19ENSG00000213085ENST00000368099p.N476Dc.1426A>GSubstitution - Missense
PELI3ENSG00000174516ENST00000320740p.V27Ic.79G>ASubstitution - Missense
NALCNENSG00000102452ENST00000376196p.R372Rc.1116C>TSubstitution - coding silent
TDRD1ENSG00000095627ENST00000251864p.L68fs*29c.198delTDeletion - Frameshift
PYHIN1ENSG00000163564ENST00000368140p.Q248*c.742C>TSubstitution - Nonsense
TMBIM6ENSG00000139644ENST00000267115p.T20Ac.58A>GSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.P1167fs*16c.3500delCDeletion - Frameshift
CENPFENSG00000117724ENST00000366955p.I1831fs*1c.5486delADeletion - Frameshift
PPP1R12AENSG00000058272ENST00000261207p.N540fs*23c.1619delADeletion - Frameshift
TGFB2ENSG00000092969ENST00000366930p.N274fs*10c.814delADeletion - Frameshift
OR10H5ENSG00000172519ENST00000308940p.P79Pc.237G>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000306349p.N614fs*>117c.1833delCDeletion - Frameshift
CABLES1ENSG00000134508ENST00000420687p.H315Hc.945C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.D300Dc.900C>TSubstitution - coding silent
TBCCD1ENSG00000113838ENST00000338733p.R336Hc.1007G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.?c.658+6C>TUnknown
UBR3ENSG00000144357ENST00000418381p.L1744Fc.5232A>TSubstitution - Missense
UBFD1ENSG00000103353ENST00000219638p.W175Rc.523T>CSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.G661Dc.1982G>ASubstitution - Missense
SF3B3ENSG00000189091ENST00000302516p.Y1215Yc.3645C>TSubstitution - coding silent
COX7A2LENSG00000115944ENST00000378669p.A92Ac.276G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.T1637Ac.4909A>GSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.T302Tc.906G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.G2576Vc.7727G>TSubstitution - Missense
ZNF608ENSG00000168916ENST00000306315p.L785Lc.2355A>GSubstitution - coding silent
ALG12ENSG00000182858ENST00000330817p.P306Sc.916C>TSubstitution - Missense
SCO2ENSG00000130489ENST00000395693p.Q16fs*65c.45_46delTCDeletion - Frameshift
NDOR1ENSG00000188566ENST00000344894p.S560Sc.1680G>ASubstitution - coding silent
ALPIENSG00000163295ENST00000295463p.S409Pc.1225T>CSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.L1531Pc.4592T>CSubstitution - Missense
DIS3L2ENSG00000144535ENST00000325385p.H712Rc.2135A>GSubstitution - Missense
GPR173ENSG00000184194ENST00000332582p.V74Ic.220G>ASubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000381661p.K59fs*10c.175delADeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.A4238Ac.12714C>ASubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.L423fs*2c.1266delGDeletion - Frameshift
GPAA1ENSG00000197858ENST00000355091p.W578*c.1734G>ASubstitution - Nonsense
ERMARDENSG00000130023ENST00000366773p.I666Mc.1998A>GSubstitution - Missense
ENST00000377993p.T486Ac.1456A>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.V1095fs*22c.3281_3282insCInsertion - Frameshift
SETD5ENSG00000168137ENST00000302463p.S1048Sc.3144A>GSubstitution - coding silent
NLRC5ENSG00000140853ENST00000262510p.A360Vc.1079C>TSubstitution - Missense
NM_025134.3p.A2646Ac.7938A>TSubstitution - coding silent
PDP1ENSG00000164951ENST00000297598p.H442Rc.1325A>GSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.Q539Qc.1617A>GSubstitution - coding silent
PDE4AENSG00000065989ENST00000352831p.D429Nc.1285G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1402Ac.4204A>GSubstitution - Missense
JAK2ENSG00000096968ENST00000381652p.R867Rc.2601G>TSubstitution - coding silent
ENST00000253720p.R264Hc.791G>ASubstitution - Missense
PARD6BENSG00000124171ENST00000371610p.L208Lc.624A>GSubstitution - coding silent
KCNN1ENSG00000105642ENST00000222249p.I313Lc.937A>CSubstitution - Missense
EHMT1ENSG00000181090ENST00000460843p.?c.1502-9T>CUnknown
BCL11AENSG00000119866ENST00000335712p.R541Rc.1623C>TSubstitution - coding silent
BCL11AENSG00000119866ENST00000356842p.R541Rc.1623C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.T2170Ac.6508A>GSubstitution - Missense
PEX13ENSG00000162928ENST00000295030p.L254Lc.762G>ASubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.S488Ic.1463G>TSubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.I386Fc.1156A>TSubstitution - Missense
MED12LENSG00000144893ENST00000309237p.A662Vc.1985C>TSubstitution - Missense
GALNT14ENSG00000158089ENST00000349752p.V223fs*10c.664_665insGInsertion - Frameshift
ENSG00000196758ENST00000358775p.Q110Hc.330G>CSubstitution - Missense
KLHDC4ENSG00000104731ENST00000446344p.T251Mc.752C>TSubstitution - Missense
APMAPENSG00000101474ENST00000217456p.P406Pc.1218C>ASubstitution - coding silent
MCM3APENSG00000160294ENST00000397708p.L747Lc.2241G>CSubstitution - coding silent
KRTAP6-2ENSG00000186930ENST00000334897p.L30Lc.90G>ASubstitution - coding silent
NICN1ENSG00000145029ENST00000273598p.L105Lc.315G>TSubstitution - coding silent
SIRT7ENSG00000187531ENST00000328666p.A258Ac.774C>GSubstitution - coding silent
ENST00000380102_v68p.R346Hc.1037G>ASubstitution - Missense
RPL23AENSG00000198242ENST00000422514p.P58Ac.172C>GSubstitution - Missense
MFAP4ENSG00000166482ENST00000395592p.?c.593-5G>AUnknown
VSIG1ENSG00000101842ENST00000415430p.R52*c.154C>TSubstitution - Nonsense
VSIG10LENSG00000186806ENST00000335624p.?c.2574+10G>TUnknown
EIF4A1ENSG00000161960ENST00000293831p.R385Rc.1153C>ASubstitution - coding silent
KANSL1ENSG00000120071ENST00000262419p.R433Gc.1297A>GSubstitution - Missense
PAX1ENSG00000125813ENST00000398485p.?c.917-6C>AUnknown
FZD10ENSG00000111432ENST00000229030p.S324Sc.972G>ASubstitution - coding silent
MYO5CENSG00000128833ENST00000261839p.L60Pc.179T>CSubstitution - Missense
SMG7ENSG00000116698ENST00000347615p.Q825Rc.2474A>GSubstitution - Missense
TRIM45ENSG00000134253ENST00000256649p.Q298Rc.893A>GSubstitution - Missense
ANXA9ENSG00000143412ENST00000368947p.K93Rc.278A>GSubstitution - Missense
RBM20ENSG00000203867ENST00000369519p.D888Nc.2662G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.P2310Sc.6928C>TSubstitution - Missense
ENST00000357764p.M110Vc.328A>GSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.R684Wc.2050C>TSubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.?c.1485+2T>CUnknown
FOXD4L1ENSG00000184492ENST00000306507p.A253Pc.757G>CSubstitution - Missense
POU3F3ENSG00000198914ENST00000361360p.V417Ic.1249G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000392632p.R4Hc.11G>ASubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.R151Cc.451C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.E839Vc.2516A>TSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.E619Vc.1856A>TSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.S327Sc.981T>CSubstitution - coding silent
TGENSG00000042832ENST00000220616p.V2198Ac.6593T>CSubstitution - Missense
PELOENSG00000152684ENST00000274311p.A307Vc.920C>TSubstitution - Missense
GIPC1ENSG00000123159ENST00000393033p.S164Sc.492C>TSubstitution - coding silent
ENST00000319379p.Q4908Rc.14723A>GSubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.E889Vc.2666A>TSubstitution - Missense
CCDC182ENSG00000166329ENST00000299415p.M22fs*1c.64delADeletion - Frameshift
PCDHGA8ENSG00000253767ENST00000398604p.T22Mc.65C>TSubstitution - Missense
C9orf84ENSG00000165181ENST00000374287p.S1114Lc.3341C>TSubstitution - Missense
PDLIM3ENSG00000154553ENST00000284771p.C293Cc.879C>TSubstitution - coding silent
KIF2BENSG00000141200ENST00000268919p.V238Ic.712G>ASubstitution - Missense
ARENSG00000169083ENST00000374690p.G525fs*37c.1572delGDeletion - Frameshift
POLDIP3ENSG00000100227ENST00000252115p.I149Vc.445A>GSubstitution - Missense
FARSBENSG00000116120ENST00000281828p.?c.1344+2T>CUnknown
ANKRD50ENSG00000151458ENST00000504087p.W374fs*1c.1122delGDeletion - Frameshift
IL22RA2ENSG00000164485ENST00000296980p.G100Ec.299G>ASubstitution - Missense
ZC2HC1BENSG00000118491ENST00000237275p.E77fs*29c.222delADeletion - Frameshift
GLB1ENSG00000170266ENST00000307363p.N669fs*>9c.2006delADeletion - Frameshift
ENSG00000269855ENST00000601382p.A28Ac.84G>ASubstitution - coding silent
ANK1ENSG00000029534ENST00000347528p.P1610Pc.4830G>ASubstitution - coding silent
MBENSG00000198125ENST00000397326p.P121Pc.363C>TSubstitution - coding silent
GSTCDENSG00000138780ENST00000515279p.Q168Pc.503A>CSubstitution - Missense
ARPC1AENSG00000241685ENST00000432884p.F64Ic.190T>ASubstitution - Missense
POTEGENSG00000222036ENST00000409832p.R136Rc.408T>CSubstitution - coding silent
RNASEH2BENSG00000136104ENST00000336617p.F301fs*3c.898delTDeletion - Frameshift
MATKENSG00000007264ENST00000395045p.R468Hc.1403G>ASubstitution - Missense
PLAGL2ENSG00000126003ENST00000246229p.W11fs*15c.30delCDeletion - Frameshift
FKBP15ENSG00000119321ENST00000238256p.K665fs*9c.1994delADeletion - Frameshift
LAMA4ENSG00000112769ENST00000389463p.P861fs*2c.2582delCDeletion - Frameshift
CYB5R2ENSG00000166394ENST00000524790p.T145fs*8c.433delADeletion - Frameshift
MYH14ENSG00000105357ENST00000440075p.Q784Qc.2352G>ASubstitution - coding silent
CARSENSG00000110619ENST00000401769p.A75Tc.223G>ASubstitution - Missense
BIVMENSG00000134897ENST00000448849p.W146Rc.436T>CSubstitution - Missense
SMAP2ENSG00000084070ENST00000372708p.A152Ac.456G>ASubstitution - coding silent
BNIP1ENSG00000113734ENST00000231668p.L21Pc.62T>CSubstitution - Missense
ENST00000388903p.T2569Tc.7707C>ASubstitution - coding silent
DNAJC18ENSG00000170464ENST00000302060p.H206Rc.617A>GSubstitution - Missense
FUKENSG00000157353ENST00000288078p.V276Vc.828G>CSubstitution - coding silent
LHCGRENSG00000138039ENST00000294954p.N665Hc.1993A>CSubstitution - Missense
ENST00000287468_v65p.P23Hc.68C>ASubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.M1342Vc.4024A>GSubstitution - Missense
DNASE1L1ENSG00000013563ENST00000369809p.R194Rc.582C>TSubstitution - coding silent
RUFY4ENSG00000188282ENST00000344321p.R505Hc.1514G>ASubstitution - Missense
KIAA0087ENSG00000122548ENST00000242109p.S71Sc.213T>CSubstitution - coding silent
ABCA6ENSG00000154262ENST00000284425p.R427Hc.1280G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.T504Tc.1512T>CSubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.L516Mc.1546C>ASubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.P156Pc.468T>ASubstitution - coding silent
CECR2ENSG00000099954ENST00000262608p.T344Sc.1031C>GSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.K1408fs*10c.4224delADeletion - Frameshift
ZNF441ENSG00000197044ENST00000357901p.L481Rc.1442T>GSubstitution - Missense
PDLIM2ENSG00000120913ENST00000265810p.L343Lc.1027T>CSubstitution - coding silent
BMP1ENSG00000168487ENST00000306385p.R192Hc.575G>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000342376p.?c.34+1G>AUnknown
ZNF99ENSG00000213973ENST00000397104p.K21Kc.63A>GSubstitution - coding silent
RUSC2ENSG00000198853ENST00000361226p.R1064Cc.3190C>TSubstitution - Missense
RAB40ALENSG00000102128ENST00000218249p.V119Ac.356T>CSubstitution - Missense
SREBF1ENSG00000072310ENST00000355815p.A340Ac.1020T>CSubstitution - coding silent
FRMPD3ENSG00000147234ENST00000276185p.C372Sc.1114T>ASubstitution - Missense
CA12ENSG00000074410ENST00000178638p.V319Vc.957G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.Y4016Hc.12046T>CSubstitution - Missense
ZMYND11ENSG00000015171ENST00000381584p.H446Yc.1336C>TSubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.P2076Pc.6228T>CSubstitution - coding silent
SETDB1ENSG00000143379ENST00000368962p.?c.673+10A>GUnknown
PDS5BENSG00000083642ENST00000315596p.?c.963-10A>GUnknown
NDUFA12ENSG00000184752ENST00000327772p.G10Rc.28G>ASubstitution - Missense
ARID4BENSG00000054267ENST00000264183p.S1013Sc.3039T>CSubstitution - coding silent
OR52M1ENSG00000197790ENST00000360213p.F282Sc.845T>CSubstitution - Missense
KIRRELENSG00000183853ENST00000392272p.I251Ic.753T>CSubstitution - coding silent
LINGO2ENSG00000174482ENST00000379992p.R362Hc.1085G>ASubstitution - Missense
CXorf40AENSG00000197620ENST00000359293p.V41Ic.121G>ASubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.T396Tc.1188G>ASubstitution - coding silent
GRIP1ENSG00000155974ENST00000359742p.P696Hc.2087C>ASubstitution - Missense
SETDB1ENSG00000143379ENST00000498193p.?c.673+10A>GUnknown
PHF20L1ENSG00000129292ENST00000395386p.?c.1909+10A>GUnknown
KCNT2ENSG00000162687ENST00000367431p.V248Ac.743T>CSubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.G345Dc.1034G>ASubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.P457Pc.1371C>TSubstitution - coding silent
WDR62ENSG00000075702ENST00000270301p.L1407Lc.4221T>CSubstitution - coding silent
DPF1ENSG00000011332ENST00000355526p.T240Tc.720G>ASubstitution - coding silent
GUCY1B3ENSG00000061918ENST00000264424p.A438Tc.1312G>ASubstitution - Missense
ENST00000398957p.S137Fc.410C>TSubstitution - Missense
LTFENSG00000012223ENST00000231751p.?c.1656-9A>GUnknown
SCO2ENSG00000130489ENST00000543927p.Q16fs*65c.45_46delTCDeletion - Frameshift
PRDM13ENSG00000112238ENST00000369214p.V27Lc.79G>TSubstitution - Missense
ELLENSG00000105656ENST00000262809p.P369Qc.1106C>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000292254p.T240Ac.718A>GSubstitution - Missense
S100A3ENSG00000188015ENST00000368712p.C99fs*>3c.294delCDeletion - Frameshift
SPRR3ENSG00000163209ENST00000295367p.P144Sc.430C>TSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.T1096Tc.3288G>ASubstitution - coding silent
SLC22A18ENSG00000110628ENST00000380574p.A213Vc.638C>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.G775fs*2c.2320delGDeletion - Frameshift
MEN1ENSG00000133895ENST00000312049p.A176Tc.526G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P914Hc.2741C>ASubstitution - Missense
FCRL4ENSG00000163518ENST00000271532p.A5Vc.14C>TSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.Y546Hc.1636T>CSubstitution - Missense
PFKMENSG00000152556ENST00000340802p.Q149Hc.447G>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.K951Nc.2853A>CSubstitution - Missense
SUOXENSG00000139531ENST00000394109p.P122fs*29c.363_364insGInsertion - Frameshift
CCDC73ENSG00000186714ENST00000335185p.E448fs*5c.1341delADeletion - Frameshift
NDST2ENSG00000166507ENST00000309979p.L191fs*12c.572delTDeletion - Frameshift
ZC4H2ENSG00000126970ENST00000374839p.A61Tc.181G>ASubstitution - Missense
GBP2ENSG00000162645ENST00000370466p.R48Hc.143G>ASubstitution - Missense
CYP3A43ENSG00000021461ENST00000342499p.E193Ac.578A>CSubstitution - Missense
ENST00000332088p.A146Tc.436G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.V1395Ac.4184T>CSubstitution - Missense
ZNF687ENSG00000143373ENST00000368879p.G775fs*2c.2320delGDeletion - Frameshift
RHBGENSG00000132677ENST00000537040p.S190fs*9c.563delGDeletion - Frameshift
BCL9LENSG00000186174ENST00000334801p.M503Ic.1509G>TSubstitution - Missense
DDX1ENSG00000079785ENST00000381341p.S481Gc.1441A>GSubstitution - Missense
OR2W1ENSG00000204704ENST00000377175p.M238Tc.713T>CSubstitution - Missense
LANCL2ENSG00000132434ENST00000254770p.V280Ac.839T>CSubstitution - Missense
GFOD1ENSG00000145990ENST00000379287p.A380Vc.1139C>TSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.R1884Wc.5650C>TSubstitution - Missense
KRT13ENSG00000171401ENST00000246635p.V349Ac.1046T>CSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.V608fs*7c.1822_1823insGInsertion - Frameshift
NM_173823.1p.M725Vc.2173A>GSubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.S529Sc.1587G>ASubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.E1145*c.3433G>TSubstitution - Nonsense
SLC16A13ENSG00000174327ENST00000308027p.R282Qc.845G>ASubstitution - Missense
ZNF621ENSG00000172888ENST00000339296p.V348Ic.1042G>ASubstitution - Missense
CCSER1ENSG00000184305ENST00000432775p.A468Tc.1402G>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.R303Qc.908G>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.T1315Ac.3943A>GSubstitution - Missense
BACE2ENSG00000182240ENST00000330333p.E465Kc.1393G>ASubstitution - Missense
ALOX15BENSG00000179593ENST00000380183p.R407*c.1219C>TSubstitution - Nonsense
VWDEENSG00000146530ENST00000275358p.V1271Ac.3812T>CSubstitution - Missense
PDCD1LG2ENSG00000197646ENST00000397747p.L6Lc.16C>TSubstitution - coding silent
CA1ENSG00000133742ENST00000523953p.R228Hc.683G>ASubstitution - Missense
CAPN6ENSG00000077274ENST00000324068p.R551Cc.1651C>TSubstitution - Missense
MBD3L2ENSG00000230522ENST00000381393p.V149Vc.447G>ASubstitution - coding silent
INSL5ENSG00000172410ENST00000304526p.L14Lc.42A>GSubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.L999Pc.2996T>CSubstitution - Missense
SECISBP2LENSG00000138593ENST00000559471p.R703Hc.2108G>ASubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.K773fs*4c.2315delADeletion - Frameshift
ENST00000299218p.?c.1001-4T>CUnknown
NPATENSG00000149308ENST00000278612p.T1076Mc.3227C>TSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.S351Sc.1053T>CSubstitution - coding silent
TRIM45ENSG00000134253ENST00000256649p.D293Gc.878A>GSubstitution - Missense
RNF34ENSG00000170633ENST00000392465p.S182fs*35c.537_538insTInsertion - Frameshift
FCGR2AENSG00000143226ENST00000367972p.M209Tc.626T>CSubstitution - Missense
NM_013266.1p.?c.1281+4A>GUnknown
CNIH2ENSG00000174871ENST00000311445p.?c.199-5C>TUnknown
ARNTENSG00000143437ENST00000358595p.?c.1803-10T>CUnknown
LDHAENSG00000134333ENST00000422447p.?c.710+2T>CUnknown
RGS7ENSG00000182901ENST00000366565p.K402Tc.1205A>CSubstitution - Missense
ABHD2ENSG00000140526ENST00000352732p.C157Rc.469T>CSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.R443Rc.1329C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000400992p.V325fs*23c.969delGDeletion - Frameshift
COL11A1ENSG00000060718ENST00000370096p.D1142Nc.3424G>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.L423fs*2c.1266delGDeletion - Frameshift
EPB41L3ENSG00000082397ENST00000341928p.K173fs*14c.519delADeletion - Frameshift
MYO5BENSG00000167306ENST00000285039p.R872Wc.2614C>TSubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.V185Ic.553G>ASubstitution - Missense
CHRNA9ENSG00000174343ENST00000310169p.T52Tc.156A>GSubstitution - coding silent
RLN1ENSG00000107018ENST00000223862p.V73Vc.219A>CSubstitution - coding silent
ENST00000312881p.V433Ac.1298T>CSubstitution - Missense
EDEM2ENSG00000088298ENST00000374492p.F202Yc.605T>ASubstitution - Missense
SS18L1ENSG00000184402ENST00000421564p.I179Tc.536T>CSubstitution - Missense
SEC14L1ENSG00000129657ENST00000436233p.?c.345+6T>AUnknown
XM_042978.4p.R1391fs*23c.4162_4163insGInsertion - Frameshift
KIF23ENSG00000137807ENST00000260363p.E208Kc.622G>ASubstitution - Missense
SERPINA9ENSG00000170054ENST00000337425p.V255Ac.764T>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.D103Gc.308A>GSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.R1124Qc.3371G>ASubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.P170Pc.510C>TSubstitution - coding silent
MAGI3ENSG00000081026ENST00000307546p.P1415Pc.4245T>CSubstitution - coding silent
FAM161BENSG00000156050ENST00000286544p.R542Pc.1625G>CSubstitution - Missense
TMEM53ENSG00000126106ENST00000372237p.E229Ec.687A>GSubstitution - coding silent
NM_014381.1p.N71Nc.213T>CSubstitution - coding silent
CCAR1ENSG00000060339ENST00000265872p.Q181fs*2c.536delCDeletion - Frameshift
CDH24ENSG00000139880ENST00000397359p.R20Hc.59G>ASubstitution - Missense
RHBGENSG00000132677ENST00000368249p.V357fs*23c.1065delGDeletion - Frameshift
RHBGENSG00000132677ENST00000451864p.V279fs*23c.831delGDeletion - Frameshift
ERBB3ENSG00000065361ENST00000267101p.C301Cc.903T>CSubstitution - coding silent
ENST00000300576_v68p.A289Ac.867A>GSubstitution - coding silent
KATNB1ENSG00000140854ENST00000379661p.Q14*c.40C>TSubstitution - Nonsense
KCTD8ENSG00000183783ENST00000360029p.K448*c.1342A>TSubstitution - Nonsense
MBD5ENSG00000204406ENST00000407073p.Q388Rc.1163A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.T2735Tc.8205C>ASubstitution - coding silent
COL9A1ENSG00000112280ENST00000370499p.M419Vc.1255A>GSubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.V512fs*4c.1529delADeletion - Frameshift
ZNF618ENSG00000157657ENST00000288466p.?c.658+6C>TUnknown
VARSENSG00000204394ENST00000375663p.T841Mc.2522C>TSubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.S162fs*1c.480_483delTCTTDeletion - Frameshift
PSG9ENSG00000183668ENST00000270077p.?c.65-3T>AUnknown
SPEF1ENSG00000101222ENST00000379756p.L77Pc.230T>CSubstitution - Missense
MTMR4ENSG00000108389ENST00000323456p.K21fs*3c.60delCDeletion - Frameshift
GFAPENSG00000131095ENST00000435360p.A96Vc.287C>TSubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.V160Ac.479T>CSubstitution - Missense
POMGNT2ENSG00000144647ENST00000344697p.S493Sc.1479A>GSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000312498p.H9Rc.26A>GSubstitution - Missense
NCK1ENSG00000158092ENST00000288986p.Y112Fc.335A>TSubstitution - Missense
MCM6ENSG00000076003ENST00000264156p.R771fs*3c.2311delADeletion - Frameshift
POLDIP3ENSG00000100227ENST00000339677p.I149Vc.445A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T4321Sc.12962C>GSubstitution - Missense
SLC6A6ENSG00000131389ENST00000360861p.K4Nc.12G>TSubstitution - Missense
COG1ENSG00000166685ENST00000299886p.A118Vc.353C>TSubstitution - Missense
RBM3ENSG00000102317ENST00000376759p.?c.414-3C>TUnknown
RBM3ENSG00000102317ENST00000354480p.?c.332-3C>TUnknown
NM_003319p.G9907Cc.29719G>TSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.D791Hc.2371G>CSubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.G520Rc.1558G>CSubstitution - Missense
ATP6V0A4ENSG00000105929ENST00000393054p.?c.639+1G>AUnknown
LMTK2ENSG00000164715ENST00000297293p.N1070Sc.3209A>GSubstitution - Missense
PLECENSG00000178209ENST00000354958p.T1266Ac.3796A>GSubstitution - Missense
ZNF250ENSG00000196150ENST00000342660p.T103Kc.308C>ASubstitution - Missense
ALBENSG00000163631ENST00000295897p.?c.270+7A>GUnknown
KSR1ENSG00000141068ENST00000319524p.D322Dc.966C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000293683p.D403Nc.1207G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.S799Sc.2397C>TSubstitution - coding silent
MROH8ENSG00000101353ENST00000343811p.F768fs*38c.2303delTDeletion - Frameshift
RAI14ENSG00000039560ENST00000265109p.I316Vc.946A>GSubstitution - Missense
GOLGA8OENSG00000206127ENST00000509311p.?c.1368+3G>AUnknown
TMEM8AENSG00000129925ENST00000431232p.?c.635+5G>AUnknown
OTOFENSG00000115155ENST00000402415p.R360Qc.1079G>ASubstitution - Missense
FZD7ENSG00000155760ENST00000286201p.G221Dc.662G>ASubstitution - Missense
TRIM72ENSG00000177238ENST00000322122p.K149Nc.447G>CSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.Q1902Rc.5705A>GSubstitution - Missense
CARM1ENSG00000142453ENST00000327064p.P484fs*37c.1447delCDeletion - Frameshift
ABCA7ENSG00000064687ENST00000263094p.D2107Nc.6319G>ASubstitution - Missense
CTU1ENSG00000142544ENST00000421832p.P212Pc.636G>ASubstitution - coding silent
SIGLEC10ENSG00000142512ENST00000339313p.T181Tc.543G>ASubstitution - coding silent
CHGBENSG00000089199ENST00000378961p.R155Hc.464G>ASubstitution - Missense
CDK5RAP1ENSG00000101391ENST00000346416p.R518Cc.1552C>TSubstitution - Missense
RAB40ALENSG00000102128ENST00000218249p.V119Ac.356T>CSubstitution - Missense
XM_042978.4p.C421Sc.1261T>ASubstitution - Missense
ITGA11ENSG00000137809ENST00000315757p.L498Rc.1493T>GSubstitution - Missense
PCSK6ENSG00000140479ENST00000348070p.Y353Cc.1058A>GSubstitution - Missense
SU_LRRK1p.Y1110Nc.3328T>ASubstitution - Missense
XM_031689.7p.S2856Gc.8566A>GSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.?c.9998+7G>AUnknown
PCNXENSG00000100731ENST00000304743p.N1982Sc.5945A>GSubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.G1268Dc.3803G>ASubstitution - Missense
LHX9ENSG00000143355ENST00000367390p.P336Pc.1008G>ASubstitution - coding silent
TP53BP1ENSG00000067369ENST00000263801p.R1132Wc.3394C>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.?c.673+10A>GUnknown
OTOGENSG00000188162ENST00000399397p.P2203Rc.6608C>GSubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.C108Rc.322T>CSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.V530fs*4c.1583delADeletion - Frameshift
IPO7ENSG00000205339ENST00000379719p.?c.906+2T>CUnknown
XPOTENSG00000184575ENST00000332707p.A771Gc.2312C>GSubstitution - Missense
OR6Y1ENSG00000197532ENST00000302617p.M270Vc.808A>GSubstitution - Missense
SLCO1C1ENSG00000139155ENST00000381552p.V403Ac.1208T>CSubstitution - Missense
SLC39A13ENSG00000165915ENST00000354884p.F230Lc.688T>CSubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G904Rc.2710G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.C816Cc.2448C>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.L2031fs*1c.6085delTDeletion - Frameshift
ENST00000368933p.H282Rc.845A>GSubstitution - Missense
ERMARDENSG00000130023ENST00000366772p.I619Mc.1857A>GSubstitution - Missense
PIGFENSG00000151665ENST00000306465p.W181Lc.542G>TSubstitution - Missense
PCDH9ENSG00000184226ENST00000377861p.S337Pc.1009T>CSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.K755Nc.2265G>CSubstitution - Missense
SGCZENSG00000185053ENST00000382080p.E107Ec.321A>GSubstitution - coding silent
PSG5ENSG00000204941ENST00000342951p.Y215*c.645T>ASubstitution - Nonsense
ENST00000315946p.I95Nc.284T>ASubstitution - Missense
GJA10ENSG00000135355ENST00000369352p.P282fs*4c.839_840delTCDeletion - Frameshift
MTA3ENSG00000057935ENST00000405094p.V498Ac.1493T>CSubstitution - Missense
AGPAT2ENSG00000169692ENST00000371696p.P171Pc.513C>TSubstitution - coding silent
FTMTENSG00000181867ENST00000321339p.A179Tc.535G>ASubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.K1136Nc.3408A>CSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.R1125Wc.3373C>TSubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.N608Sc.1823A>GSubstitution - Missense
ENST00000359737p.T489Pc.1465A>CSubstitution - Missense
UBA5ENSG00000081307ENST00000356232p.P293fs*5c.870delTDeletion - Frameshift
ENST00000298728p.?c.1409-9T>CUnknown
FCHO1ENSG00000130475ENST00000252771p.A638Tc.1912G>ASubstitution - Missense
POM121ENSG00000196313ENST00000257622p.E358Dc.1074G>TSubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.P192Qc.575C>ASubstitution - Missense
ZC3H8ENSG00000144161ENST00000409573p.Y73Yc.219T>CSubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.H1225Yc.3673C>TSubstitution - Missense
SERPINE2ENSG00000135919ENST00000258405p.H56fs*35c.166_167insCInsertion - Frameshift
CYP26B1ENSG00000003137ENST00000001146p.G370Dc.1109G>ASubstitution - Missense
ANKRD50ENSG00000151458ENST00000504087p.E813Gc.2438A>GSubstitution - Missense
IL5RAENSG00000091181ENST00000446632p.?c.1176+3A>GUnknown
AGTR1ENSG00000144891ENST00000349243p.I38Vc.112A>GSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.A468Tc.1402G>ASubstitution - Missense
ENST00000344519_v61p.C122Cc.366T>CSubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.E1826Ec.5478G>ASubstitution - coding silent
NCKAP5ENSG00000176771ENST00000405974p.E346Ec.1038G>ASubstitution - coding silent
BAXENSG00000087088ENST00000293288p.E41fs*33c.121_122insGInsertion - Frameshift
FBXL13ENSG00000161040ENST00000436908p.A602Vc.1805C>TSubstitution - Missense
ZNF107ENSG00000196247ENST00000395391p.E387Ec.1161A>GSubstitution - coding silent
MAMSTRENSG00000176909ENST00000318083p.K164Kc.492G>ASubstitution - coding silent
RUFY4ENSG00000188282ENST00000374155p.R525Hc.1574G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.?c.8-6T>CUnknown
MGAT4AENSG00000071073ENST00000393487p.D454Gc.1361A>GSubstitution - Missense
KIAA1147ENSG00000257093ENST00000536163p.C279_L280insCc.838_839insGCTInsertion - In frame
ENSG00000271698ENST00000531225p.Y180Cc.539A>GSubstitution - Missense
DPY19L4ENSG00000156162ENST00000414645p.S540Gc.1618A>GSubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.?c.1174-1G>AUnknown
CANT1ENSG00000171302ENST00000392446p.V186fs*14c.556delGDeletion - Frameshift
ETFBENSG00000105379ENST00000309244p.A49Vc.146C>TSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.P84Hc.251C>ASubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.A954Vc.2861C>TSubstitution - Missense
CSNK1G1ENSG00000169118ENST00000303052p.L160Ic.478C>ASubstitution - Missense
SLC24A1ENSG00000074621ENST00000261892p.K187Kc.561G>ASubstitution - coding silent
NM_022459.3p.G61fs*11c.180delADeletion - Frameshift
CACNB2ENSG00000165995ENST00000377315p.D21Gc.62A>GSubstitution - Missense
BCL9ENSG00000116128ENST00000234739p.H464Hc.1392T>CSubstitution - coding silent
CEPT1ENSG00000134255ENST00000357172p.G156Cc.466G>TSubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.S411Ac.1231T>GSubstitution - Missense
LHX9ENSG00000143355ENST00000367387p.V376Ac.1127T>CSubstitution - Missense
LHX9ENSG00000143355ENST00000367390p.V367Ac.1100T>CSubstitution - Missense
SPATA21ENSG00000187144ENST00000335496p.P69Pc.207C>TSubstitution - coding silent
ENST00000318117p.S29Sc.87C>TSubstitution - coding silent
ATG2AENSG00000110046ENST00000377264p.G965Dc.2894G>ASubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.K175Kc.525A>GSubstitution - coding silent
OBFC1ENSG00000107960ENST00000369764p.T94Ac.280A>GSubstitution - Missense
VAMP4ENSG00000117533ENST00000236192p.G16Gc.48T>CSubstitution - coding silent
ENST00000432996p.R944Rc.2832G>ASubstitution - coding silent
LRP5ENSG00000162337ENST00000294304p.S315Sc.945C>TSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.T969Ic.2906C>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.R198Rc.594C>TSubstitution - coding silent
DGKZENSG00000149091ENST00000454345p.P1037fs*38c.3104delCDeletion - Frameshift
PDE6CENSG00000095464ENST00000371447p.A366Vc.1097C>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.R73fs*36c.211_212delAGDeletion - Frameshift
RAP1GAPENSG00000076864ENST00000374761p.R159Qc.476G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.R1151Hc.3452G>ASubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.F90fs*3c.264delTDeletion - Frameshift
RANBP2ENSG00000153201ENST00000283195p.A804Tc.2410G>ASubstitution - Missense
CA3ENSG00000164879ENST00000285381p.A173Ac.519G>ASubstitution - coding silent
SAGE1ENSG00000181433ENST00000535938p.K822fs*3c.2459_2460insAInsertion - Frameshift
COL20A1ENSG00000101203ENST00000422202p.A669Vc.2006C>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.N585Nc.1755C>TSubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.E581Dc.1743A>CSubstitution - Missense
SPATA21ENSG00000187144ENST00000540400p.P46Pc.138C>TSubstitution - coding silent
WNT3AENSG00000154342ENST00000366753p.Y260Cc.779A>GSubstitution - Missense
EPHX3ENSG00000105131ENST00000221730p.T297Ac.889A>GSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.H790Yc.2368C>TSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.I823fs*2c.2467_2468insAInsertion - Frameshift
C9orf84ENSG00000165181ENST00000394779p.S1075Lc.3224C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.M2457Tc.7370T>CSubstitution - Missense
PPARDENSG00000112033ENST00000360694p.Y108Yc.324C>TSubstitution - coding silent
FBRSENSG00000156860ENST00000356166p.P543Hc.1628C>ASubstitution - Missense
ZNF330ENSG00000109445ENST00000262990p.E17fs*14c.47_54delGAGAACGTDeletion - Frameshift
SERPINE2ENSG00000135919ENST00000447280p.H68fs*35c.202_203insCInsertion - Frameshift
NM_053025p.H221Yc.661C>TSubstitution - Missense
ENST00000376951p.A403Tc.1207G>ASubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.L2787Lc.8361G>ASubstitution - coding silent
OTTHUMT00000056248.1p.K1781fs*10c.5338delADeletion - Frameshift
IL1RAPL1ENSG00000169306ENST00000378993p.S488Ic.1463G>TSubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.T1392Ac.4174A>GSubstitution - Missense
ANKRD28ENSG00000206560ENST00000383777p.I359Vc.1075A>GSubstitution - Missense
ITGA9ENSG00000144668ENST00000264741p.R975Cc.2923C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.A662Vc.1985C>TSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.P156Pc.468T>ASubstitution - coding silent
MIB1ENSG00000101752ENST00000261537p.W98Rc.292T>CSubstitution - Missense
DNAJC28ENSG00000177692ENST00000314399p.L374fs*1c.1121delTDeletion - Frameshift
RBM15BENSG00000179837ENST00000323686p.V487Mc.1459G>ASubstitution - Missense
CYP3A43ENSG00000021461ENST00000222382p.E333Ac.998A>CSubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.R1588Cc.4762C>TSubstitution - Missense
PDE4AENSG00000065989ENST00000344979p.D190Nc.568G>ASubstitution - Missense
AATKENSG00000181409ENST00000326724p.A672Gc.2015C>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.A778Ac.2334C>TSubstitution - coding silent
SOCS3ENSG00000184557ENST00000330871p.Y221Yc.663C>TSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.K964Tc.2891A>CSubstitution - Missense
OTTHUMT00000058153.1p.A779Vc.2336C>TSubstitution - Missense
DOCK7ENSG00000116641ENST00000340370p.?c.3093+8T>CUnknown
ZNF692ENSG00000171163ENST00000306601p.E241fs*23c.721delGDeletion - Frameshift
PTGER2ENSG00000125384ENST00000245457p.N39Sc.116A>GSubstitution - Missense
PPP2R5EENSG00000154001ENST00000337537p.M373Tc.1118T>CSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.V248Ac.743T>CSubstitution - Missense
LHX9ENSG00000143355ENST00000367387p.P345Pc.1035G>ASubstitution - coding silent
RPP38ENSG00000152464ENST00000378203p.S38Sc.114C>TSubstitution - coding silent
TMEM87AENSG00000103978ENST00000389834p.R325Cc.973C>TSubstitution - Missense
LEPRE1ENSG00000117385ENST00000296388p.R368Qc.1103G>ASubstitution - Missense
TGFB3ENSG00000119699ENST00000238682p.R148*c.442C>TSubstitution - Nonsense
ATP1A4ENSG00000132681ENST00000368081p.?c.208-1G>TUnknown
CTNNA3ENSG00000183230ENST00000433211p.?c.1281+4A>GUnknown
ABHD4ENSG00000100439ENST00000428304p.R68Cc.202C>TSubstitution - Missense
ZNF669ENSG00000188295ENST00000343381p.G424Sc.1270G>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000368615p.S47Sc.141A>GSubstitution - coding silent
ACTA1ENSG00000143632ENST00000366684p.F202Fc.606C>TSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.K951Nc.2853A>CSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.R657Qc.1970G>ASubstitution - Missense
SLCO1C1ENSG00000139155ENST00000266509p.V403Ac.1208T>CSubstitution - Missense
TMBIM6ENSG00000139644ENST00000423828p.T78Ac.232A>GSubstitution - Missense
KRT3ENSG00000186442ENST00000417996p.G62Dc.185G>ASubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.R362Hc.1085G>ASubstitution - Missense
HK1ENSG00000156515ENST00000404387p.A462Vc.1385C>TSubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.G132fs*31c.395delGDeletion - Frameshift
DLGAP1ENSG00000170579ENST00000581699p.S81Sc.243C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.?c.4664+5G>AUnknown
STAT5AENSG00000126561ENST00000452307p.S543Sc.1629C>TSubstitution - coding silent
HKR1ENSG00000181666ENST00000392153p.A71Ac.213G>ASubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.Q586Ec.1756C>GSubstitution - Missense
RPS2ENSG00000140988ENST00000343262p.R42Gc.124C>GSubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.L565Fc.1695A>TSubstitution - Missense
PHYHIPLENSG00000165443ENST00000373878p.I127Vc.379A>GSubstitution - Missense
HDHD3ENSG00000119431ENST00000374180p.C196Cc.588C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.C4381fs*12c.13131_13132insCInsertion - Frameshift
COL22A1ENSG00000169436ENST00000303045p.?c.2248-5C>AUnknown
ENST00000335132p.I204Lc.610A>CSubstitution - Missense
KMT2EENSG00000005483ENST00000257745p.P1678Pc.5034C>TSubstitution - coding silent
STAG3ENSG00000066923ENST00000426455p.N34Nc.102C>TSubstitution - coding silent
GFRA3ENSG00000146013ENST00000274721p.T390Tc.1170G>ASubstitution - coding silent
GFAPENSG00000131095ENST00000253408p.A96Vc.287C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.G970Vc.2909G>TSubstitution - Missense
IARSENSG00000196305ENST00000375643p.R739Cc.2215C>TSubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.?c.165-7G>AUnknown
GPR75-ASB3ENSG00000115239ENST00000263634p.V503Ic.1507G>ASubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.D1024Nc.3070G>ASubstitution - Missense
NM_020766.1p.D477Nc.1429G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.M1470fs*26c.4402delADeletion - Frameshift
NOP16ENSG00000048162ENST00000389158p.R135Hc.404G>ASubstitution - Missense
ZNF229ENSG00000167383ENST00000291187p.G720fs*100c.2159delGDeletion - Frameshift
CYTIPENSG00000115165ENST00000264192p.S266Cc.797C>GSubstitution - Missense
MAGEA8ENSG00000156009ENST00000535454p.R218Rc.654C>TSubstitution - coding silent
DDCENSG00000132437ENST00000357936p.R453Hc.1358G>ASubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.R453Rc.1359C>TSubstitution - coding silent
ZSCAN23ENSG00000187987ENST00000289788p.F54Lc.160T>CSubstitution - Missense
AP2B1ENSG00000006125ENST00000312678p.Q903Rc.2708A>GSubstitution - Missense
TMEM98ENSG00000006042ENST00000394642p.R30Cc.88C>TSubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.I679Tc.2036T>CSubstitution - Missense
MDGA1ENSG00000112139ENST00000434837p.A32Vc.95C>TSubstitution - Missense
RPS4XENSG00000198034ENST00000316084p.G25Dc.74G>ASubstitution - Missense
CDX4ENSG00000131264ENST00000373514p.H52Yc.154C>TSubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.H757Rc.2270A>GSubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.T348Mc.1043C>TSubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.L847Lc.2541G>ASubstitution - coding silent
CCNL1ENSG00000163660ENST00000295926p.L331Pc.992T>CSubstitution - Missense
OXSMENSG00000151093ENST00000280701p.A90delAc.264_266delTGCDeletion - In frame
ASH2LENSG00000129691ENST00000343823p.G118Vc.353G>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.A468Tc.1402G>ASubstitution - Missense
DPEP1ENSG00000015413ENST00000261615p.E186Kc.556G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G10032Cc.30094G>TSubstitution - Missense
KIAA1211LENSG00000196872ENST00000397899p.P165fs*15c.494delCDeletion - Frameshift
PTPRHENSG00000080031ENST00000376350p.N387fs*3c.1158delCDeletion - Frameshift
GARTENSG00000159131ENST00000381839p.M593Vc.1777A>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.Y115Hc.343T>CSubstitution - Missense
MFAP4ENSG00000166482ENST00000299610p.?c.521-5G>AUnknown
ZNF441ENSG00000197044ENST00000357901p.L548Rc.1643T>GSubstitution - Missense
VSIG1ENSG00000101842ENST00000415430p.R52*c.154C>TSubstitution - Nonsense
UBXN2BENSG00000215114ENST00000399598p.S235Sc.705T>CSubstitution - coding silent
COPZ2ENSG00000005243ENST00000006101p.F93fs*4c.279delTDeletion - Frameshift
LRRK1ENSG00000154237ENST00000284395p.Y1095Nc.3283T>ASubstitution - Missense
GPRC5BENSG00000167191ENST00000300571p.V46Mc.136G>ASubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.R1032Gc.3094A>GSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.Y4016Hc.12046T>CSubstitution - Missense
BLMENSG00000197299ENST00000355112p.S1025Gc.3073A>GSubstitution - Missense
HK1ENSG00000156515ENST00000359426p.A458Vc.1373C>TSubstitution - Missense
FCRLBENSG00000162746ENST00000367948p.Q16fs*30c.42_43insGInsertion - Frameshift
LRRC27ENSG00000148814ENST00000368614p.S47Sc.141A>GSubstitution - coding silent
OR10R2ENSG00000198965ENST00000368152p.C209Sc.626G>CSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.R53Wc.157C>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.R73fs*36c.211_212delAGDeletion - Frameshift
MPRIPENSG00000133030ENST00000341712p.P353fs*30c.1052delCDeletion - Frameshift
GPR124ENSG00000020181ENST00000412232p.A525fs*12c.1567delGDeletion - Frameshift
NALCNENSG00000102452ENST00000251127p.R372Rc.1116C>TSubstitution - coding silent
FER1L6ENSG00000214814ENST00000399018p.H305Hc.915T>CSubstitution - coding silent
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
NUP214ENSG00000126883ENST00000451030p.S327Sc.981T>CSubstitution - coding silent
SREBF1ENSG00000072310ENST00000338854p.A310Ac.930T>CSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.L1273Lc.3819G>ASubstitution - coding silent
CERCAMENSG00000167123ENST00000372838p.A353Tc.1057G>ASubstitution - Missense
RBM22ENSG00000086589ENST00000199814p.L101Lc.301T>CSubstitution - coding silent
TAF15ENSG00000172660ENST00000311979p.F317fs*9c.949delTDeletion - Frameshift
BCKDHBENSG00000083123ENST00000356489p.E230*c.688G>TSubstitution - Nonsense
RALGDSENSG00000160271ENST00000372062p.E811Vc.2432A>TSubstitution - Missense
TRIM2ENSG00000109654ENST00000338700p.P22fs*27c.60delCDeletion - Frameshift
COPEENSG00000105669ENST00000262812p.S213Lc.638C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.M1189Tc.3566T>CSubstitution - Missense
FAM217AENSG00000145975ENST00000274673p.G45Gc.135A>CSubstitution - coding silent
AUTS2ENSG00000158321ENST00000342771p.R817Cc.2449C>TSubstitution - Missense
FEM1AENSG00000141965ENST00000269856p.A588Tc.1762G>ASubstitution - Missense
SGPP2ENSG00000163082ENST00000321276p.G221Gc.663C>TSubstitution - coding silent
RFC2ENSG00000049541ENST00000055077p.A196Tc.586G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T971Ac.2911A>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.A1886Tc.5656G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.S1408Sc.4224C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.T1288Ac.3862A>GSubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.K186Ec.556A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T4464Sc.13391C>GSubstitution - Missense
ENST00000377653p.E190Kc.568G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.M1209Tc.3626T>CSubstitution - Missense
NDRG1ENSG00000104419ENST00000323851p.A96Tc.286G>ASubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.R1678Rc.5034G>ASubstitution - coding silent
PSG2ENSG00000242221ENST00000406487p.*336*c.1008G>ASubstitution - coding silent
GSK3AENSG00000105723ENST00000222330p.N350fs*11c.1043_1044insCInsertion - Frameshift
UBE3CENSG00000009335ENST00000348165p.N744fs*5c.2228delADeletion - Frameshift
GTDC1ENSG00000121964ENST00000392869p.?c.347+2T>CUnknown
ENST00000342288p.G43Gc.129T>CSubstitution - coding silent
SAGE1ENSG00000181433ENST00000324447p.K822fs*3c.2459_2460insAInsertion - Frameshift
XM_209918.4p.I95Nc.284T>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.K685fs*2c.2055delADeletion - Frameshift
CD14ENSG00000170458ENST00000302014p.P222Sc.664C>TSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.G322Vc.965G>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000336483p.L300_I301insLc.897_898insCTTInsertion - In frame
ALPIENSG00000163295ENST00000295463p.C120Cc.360C>TSubstitution - coding silent
MEIS1ENSG00000143995ENST00000407092p.H404fs*46c.1210_1211insCInsertion - Frameshift
NM_053025p.A50Tc.148G>ASubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.?c.4241-10C>AUnknown
SMC1AENSG00000072501ENST00000322213p.R627Hc.1880G>ASubstitution - Missense
LSM1ENSG00000175324ENST00000311351p.Y133Hc.397T>CSubstitution - Missense
MCM5ENSG00000100297ENST00000216122p.M626Ic.1878G>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.Y550Hc.1648T>CSubstitution - Missense
EIF4ENIF1ENSG00000184708ENST00000397525p.I865Tc.2594T>CSubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.A695Tc.2083G>ASubstitution - Missense
HIST1H3AENSG00000198366ENST00000357647p.A16Ac.48G>TSubstitution - coding silent
TKTENSG00000163931ENST00000462138p.A575Tc.1723G>ASubstitution - Missense
TNKSENSG00000173273ENST00000310430p.Q539Qc.1617A>GSubstitution - coding silent
RPRD1AENSG00000141425ENST00000357384p.S2Pc.4T>CSubstitution - Missense
ZNF77ENSG00000175691ENST00000314531p.S459Nc.1376G>ASubstitution - Missense
ENST00000429478p.N202fs*20c.602delADeletion - Frameshift
ZDBF2ENSG00000204186ENST00000374423p.T791Tc.2373T>GSubstitution - coding silent
RUSC1ENSG00000160753ENST00000368347p.T299Ac.895A>GSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.Y1098Nc.3292T>ASubstitution - Missense
OR2L3ENSG00000198128ENST00000359959p.P19Sc.55C>TSubstitution - Missense
NM_032105.1p.P727Sc.2179C>TSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.Q613Rc.1838A>GSubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.S635Gc.1903A>GSubstitution - Missense
SARSENSG00000031698ENST00000234677p.G198Gc.594G>ASubstitution - coding silent
POGZENSG00000143442ENST00000271715p.R502Kc.1505G>ASubstitution - Missense
MED13LENSG00000123066ENST00000281928p.A1196Tc.3586G>ASubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R250Mc.749G>TSubstitution - Missense
RNF34ENSG00000170633ENST00000392464p.V371Ac.1112T>CSubstitution - Missense
NM_002155.3p.R173Rc.519G>ASubstitution - coding silent
ATRNL1ENSG00000107518ENST00000355044p.?c.3904-1delgUnknown
HOMER2ENSG00000103942ENST00000304231p.?c.351+6A>GUnknown
DGKZENSG00000149091ENST00000421244p.P849fs*38c.2540delCDeletion - Frameshift
TMEM78ENSG00000177800ENST00000323223p.S70Sc.210C>TSubstitution - coding silent
BMS1ENSG00000165733ENST00000374518p.A502Vc.1505C>TSubstitution - Missense
PTENENSG00000171862ENST00000371953p.L25Lc.73T>CSubstitution - coding silent
BROXENSG00000162819ENST00000340934p.E215Dc.645A>CSubstitution - Missense
DACT2ENSG00000164488ENST00000366796p.G206Sc.616G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.I1326Vc.3976A>GSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.H246fs*16c.733_736delACTCDeletion - Frameshift
DHX36ENSG00000174953ENST00000544526p.M212Ic.636G>ASubstitution - Missense
RAP1GAPENSG00000076864ENST00000542643p.R128Qc.383G>ASubstitution - Missense
PHYHIPLENSG00000165443ENST00000373878p.A107Ac.321A>GSubstitution - coding silent
KNG1ENSG00000113889ENST00000287611p.V309Vc.927A>GSubstitution - coding silent
ENST00000319396p.K1317Tc.3950A>CSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.R486Qc.1457G>ASubstitution - Missense
ENST00000318252p.G1322Gc.3966C>ASubstitution - coding silent
PPP2R1AENSG00000105568ENST00000322088p.L564Pc.1691T>CSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.R1050Qc.3149G>ASubstitution - Missense
ZNF350ENSG00000256683ENST00000243644p.A457Ac.1371T>CSubstitution - coding silent
GREB1LENSG00000141449ENST00000424526p.P1214Pc.3642G>ASubstitution - coding silent
SLC7A13ENSG00000164893ENST00000419776p.S126fs*20c.372delTDeletion - Frameshift
TXNDC17ENSG00000129235ENST00000250101p.L57Pc.170T>CSubstitution - Missense
MROH8ENSG00000101353ENST00000400441p.F741fs*38c.2223delTDeletion - Frameshift
GNA15ENSG00000060558ENST00000262958p.D239Gc.716A>GSubstitution - Missense
XM_031689.7p.A3107fs*>8c.9315delGDeletion - Frameshift
SLC12A1ENSG00000074803ENST00000380993p.?c.2761+3delaUnknown
FAM171A1ENSG00000148468ENST00000378116p.G698fs*47c.2093delGDeletion - Frameshift
LDHAENSG00000134333ENST00000540430p.?c.797+2T>CUnknown
PLD5ENSG00000180287ENST00000366545p.N13Nc.39T>CSubstitution - coding silent
CNNM2ENSG00000148842ENST00000369878p.V408Ac.1223T>CSubstitution - Missense
C1orf101ENSG00000179397ENST00000366533p.M176fs*13c.516_523delAAATGAGADeletion - Frameshift
LRRC27ENSG00000148814ENST00000392638p.S47Sc.141A>GSubstitution - coding silent
ZNF839ENSG00000022976ENST00000442396p.K242fs*3c.720delADeletion - Frameshift
LIMA1ENSG00000050405ENST00000341247p.L90Lc.270A>GSubstitution - coding silent
NM_175736.3p.S495Sc.1485T>CSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.T969Ic.2906C>TSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.R2039Wc.6115A>TSubstitution - Missense
ALKBH2ENSG00000189046ENST00000343075p.K261fs?c.783delADeletion - Frameshift
VWA8ENSG00000102763ENST00000379310p.L642Lc.1926C>ASubstitution - coding silent
DHX36ENSG00000174953ENST00000496811p.M154fs*27c.460delADeletion - Frameshift
APOBEC3AENSG00000128383ENST00000402255p.R128Cc.382C>TSubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.K296fs*2c.888delADeletion - Frameshift
ENST00000374451p.D28Nc.82G>ASubstitution - Missense
RBM22ENSG00000086589ENST00000540000p.L52Lc.154T>CSubstitution - coding silent
ARHGAP17ENSG00000140750ENST00000303665p.H712Yc.2134C>TSubstitution - Missense
ENST00000292077p.A83Tc.247G>ASubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.A800Ac.2400G>ASubstitution - coding silent
ANGPT1ENSG00000154188ENST00000297450p.W447*c.1341G>ASubstitution - Nonsense
PHC3ENSG00000173889ENST00000495893p.S440Sc.1320A>GSubstitution - coding silent
VPS13AENSG00000197969ENST00000376634p.T1637Ac.4909A>GSubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.S226Gc.676A>GSubstitution - Missense
OR13C2ENSG00000257019ENST00000542196p.M290Tc.869T>CSubstitution - Missense
OTUD4ENSG00000164164ENST00000454497p.C490Rc.1468T>CSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.R860Hc.2579G>ASubstitution - Missense
TDGF1ENSG00000241186ENST00000296145p.A7Tc.19G>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381483p.K311fs*65c.928delADeletion - Frameshift
PLXNA3ENSG00000130827ENST00000369682p.?c.4699-1G>TUnknown
NCLENSG00000115053ENST00000322723p.F331fs*15c.993delTDeletion - Frameshift
DHX36ENSG00000174953ENST00000496811p.M212Ic.636G>ASubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000272238p.K59fs*10c.175delADeletion - Frameshift
CCDC135ENSG00000159625ENST00000360716p.R734Cc.2200C>TSubstitution - Missense
CACNA2D2ENSG00000007402ENST00000424201p.L816Lc.2448C>TSubstitution - coding silent
BMP1ENSG00000168487ENST00000306349p.R192Hc.575G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1402Ac.4204A>GSubstitution - Missense
ENTPD4ENSG00000197217ENST00000358689p.S412Sc.1236C>ASubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.R881Qc.2642G>ASubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.P350Qc.1049C>ASubstitution - Missense
LHX4ENSG00000121454ENST00000263726p.P98fs*75c.288delCDeletion - Frameshift
HCAR1ENSG00000196917ENST00000356987p.C88Yc.263G>ASubstitution - Missense
SARSENSG00000031698ENST00000369923p.Q429Kc.1285C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.V235Ac.704T>CSubstitution - Missense
LEPRE1ENSG00000117385ENST00000236040p.R368Qc.1103G>ASubstitution - Missense
MRPS15ENSG00000116898ENST00000373116p.A232Ac.696A>GSubstitution - coding silent
C12orf4ENSG00000047621ENST00000261250p.Q170Qc.510A>GSubstitution - coding silent
ANO4ENSG00000151572ENST00000392979p.R824Wc.2470C>TSubstitution - Missense
RRM1ENSG00000167325ENST00000300738p.D510Dc.1530T>CSubstitution - coding silent
KIRRELENSG00000183853ENST00000368173p.I431Ic.1293T>CSubstitution - coding silent
LEFTY2ENSG00000143768ENST00000366820p.P313fs*>55c.932_933insGInsertion - Frameshift
ROS1ENSG00000047936ENST00000368508p.C532Yc.1595G>ASubstitution - Missense
C9orf84ENSG00000165181ENST00000374283p.L5Lc.13T>CSubstitution - coding silent
KIF22ENSG00000079616ENST00000160827p.K528fs*4c.1579delADeletion - Frameshift
PHKA2ENSG00000044446ENST00000379942p.R1137Qc.3410G>ASubstitution - Missense
ENST00000272666p.H1225Yc.3673C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G1593Gc.4779C>ASubstitution - coding silent
CNOT3ENSG00000088038ENST00000358389p.?c.1163-5C>GUnknown
CRIM1ENSG00000150938ENST00000280527p.R219Cc.655C>TSubstitution - Missense
ENST00000405167p.I4238Ic.12714C>ASubstitution - coding silent
ENST00000356127p.G16402Cc.49204G>TSubstitution - Missense
KRT20ENSG00000171431ENST00000167588p.L219Vc.655C>GSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.Q3642Qc.10926G>ASubstitution - coding silent
NM_014916p.N1070Sc.3209A>GSubstitution - Missense
RIT2ENSG00000152214ENST00000326695p.A14Tc.40G>ASubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.Y106Fc.317A>TSubstitution - Missense
ENST00000334187_v71p.L116fs*14c.340_341insTInsertion - Frameshift
EOGTENSG00000163378ENST00000383701p.V309Ac.926T>CSubstitution - Missense
ENST00000300671p.G1939Gc.5817T>CSubstitution - coding silent
CHGBENSG00000089199ENST00000378961p.Q204Rc.611A>GSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.A1639Vc.4916C>TSubstitution - Missense
OR7D2ENSG00000188000ENST00000344248p.M1Vc.1A>GSubstitution - Missense
HAGHLENSG00000103253ENST00000389703p.L51Pc.152T>CSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.P1414Pc.4242A>GSubstitution - coding silent
PM20D1ENSG00000162877ENST00000367136p.G209Dc.626G>ASubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.D498Ac.1493A>CSubstitution - Missense
MAN1A2ENSG00000198162ENST00000356554p.?c.558+2T>CUnknown
PCDH15ENSG00000150275ENST00000395438p.V230Ac.689T>CSubstitution - Missense
MRGPRGENSG00000182170ENST00000332314p.A56Pc.166G>CSubstitution - Missense
THENSG00000180176ENST00000381178p.?c.580+8G>AUnknown
HINFPENSG00000172273ENST00000350777p.T361Tc.1083C>TSubstitution - coding silent
CTSKENSG00000143387ENST00000271651p.L8Pc.23T>CSubstitution - Missense
BIVMENSG00000134897ENST00000257336p.W375Rc.1123T>CSubstitution - Missense
PCENSG00000173599ENST00000393955p.R558Qc.1673G>ASubstitution - Missense
INPP5FENSG00000198825ENST00000361976p.I675fs*3c.2018delADeletion - Frameshift
C1orf101ENSG00000179397ENST00000366534p.M176fs*13c.516_523delAAATGAGADeletion - Frameshift
PCNXL2ENSG00000135749ENST00000258229p.R786Qc.2357G>ASubstitution - Missense
C15orf40ENSG00000169609ENST00000304177p.T126fs?c.376delADeletion - Frameshift
OOSP1ENSG00000214788ENST00000398992p.P87Hc.260C>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.T1216Ac.3646A>GSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.V119Ic.355G>ASubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.A589fs*16c.1764delADeletion - Frameshift
SLC17A1ENSG00000124568ENST00000244527p.T273Tc.819G>ASubstitution - coding silent
CNTLNENSG00000044459ENST00000262360p.R253Gc.757C>GSubstitution - Missense
SLC12A4ENSG00000124067ENST00000541864p.?c.3073+3A>TUnknown
SLC12A4ENSG00000124067ENST00000537830p.D1047Ac.3140A>CSubstitution - Missense
MPRIPENSG00000133030ENST00000395811p.P353fs*30c.1052delCDeletion - Frameshift
GRM8ENSG00000179603ENST00000358373p.K296fs*2c.888delADeletion - Frameshift
TGENSG00000042832ENST00000220616p.R368Rc.1104G>ASubstitution - coding silent
LY75ENSG00000054219ENST00000263636p.D721Ec.2163T>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.G345Dc.1034G>ASubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.L780Lc.2340G>ASubstitution - coding silent
SLC26A2ENSG00000155850ENST00000286298p.Q685Rc.2054A>GSubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.S59Pc.175T>CSubstitution - Missense
DSELENSG00000171451ENST00000310045p.G651Dc.1952G>ASubstitution - Missense
ENST00000217537p.G272Vc.815G>TSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.G1557Rc.4669G>ASubstitution - Missense
CNDP1ENSG00000150656ENST00000358821p.D215Dc.645C>TSubstitution - coding silent
ENST00000544984p.G335fs*37c.1002delGDeletion - Frameshift
MAMSTRENSG00000176909ENST00000356751p.K61Kc.183G>ASubstitution - coding silent
GLTSCR1ENSG00000063169ENST00000396720p.V549Ac.1646T>CSubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.S529Sc.1587G>ASubstitution - coding silent
SLC26A5ENSG00000170615ENST00000339444p.I57fs*1c.169delADeletion - Frameshift
NM_198279.1p.H60Hc.180T>CSubstitution - coding silent
ZNF805ENSG00000204524ENST00000414468p.L627Lc.1879C>TSubstitution - coding silent
POM121ENSG00000196313ENST00000434423p.E623Dc.1869G>TSubstitution - Missense
TPOENSG00000115705ENST00000337415p.D300Ec.900C>ASubstitution - Missense
CYFIP2ENSG00000055163ENST00000435847p.C718Cc.2154C>TSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381285p.R1588Cc.4762C>TSubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.V311Ac.932T>CSubstitution - Missense
ENST00000458336p.R626Wc.1876C>TSubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.M204Tc.611T>CSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.A257Pc.769G>CSubstitution - Missense
NOB1ENSG00000141101ENST00000268802p.R312Pc.935G>CSubstitution - Missense
TCOF1ENSG00000070814ENST00000504761p.T76Tc.228C>ASubstitution - coding silent
C9orf62ENSG00000178243ENST00000320778p.P135Lc.404C>TSubstitution - Missense
FAM184AENSG00000111879ENST00000338891p.E995Gc.2984A>GSubstitution - Missense
MDGA1ENSG00000112139ENST00000297153p.A32Vc.95C>TSubstitution - Missense
OGTENSG00000147162ENST00000373701p.I711Vc.2131A>GSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.Q856Qc.2568G>ASubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.D1560Nc.4678G>ASubstitution - Missense
SUGP1ENSG00000105705ENST00000247001p.A512Vc.1535C>TSubstitution - Missense
GARSENSG00000106105ENST00000389266p.C525Rc.1573T>CSubstitution - Missense
CXorf23ENSG00000173681ENST00000379687p.H495Hc.1485T>CSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.K3402Ec.10204A>GSubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.S415Nc.1244G>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.?c.3969+2T>CUnknown
MGAT4AENSG00000071073ENST00000414521p.D326Gc.977A>GSubstitution - Missense
COQ10BENSG00000115520ENST00000263960p.S15_G34del20c.42_101del60Deletion - In frame
CPSF1ENSG00000071894ENST00000349769p.A650Ac.1950C>ASubstitution - coding silent
ZNF532ENSG00000074657ENST00000336078p.Y656fs*19c.1961delTDeletion - Frameshift
ZMYND10ENSG00000004838ENST00000231749p.?c.202-8C>AUnknown
GGCXENSG00000115486ENST00000233838p.E630*c.1888G>TSubstitution - Nonsense
ACEENSG00000159640ENST00000290866p.S90Nc.269G>ASubstitution - Missense
STRADAENSG00000266173ENST00000336174p.Y96Cc.287A>GSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
SWSAP1ENSG00000173928ENST00000312423p.A208Tc.622G>ASubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.G265Gc.795A>GSubstitution - coding silent
ASB15ENSG00000146809ENST00000451558p.A275Ec.824C>ASubstitution - Missense
CNBD2ENSG00000149646ENST00000349339p.M92Vc.274A>GSubstitution - Missense
ENST00000389700p.L51Pc.152T>CSubstitution - Missense
SPTBENSG00000070182ENST00000542895p.G1674Wc.5020G>TSubstitution - Missense
KIAA0907ENSG00000132680ENST00000368321p.R518Gc.1552A>GSubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.E341Kc.1021G>ASubstitution - Missense
CALML5ENSG00000178372ENST00000380332p.V56Ic.166G>ASubstitution - Missense
HMBSENSG00000256269ENST00000278715p.G3Gc.9T>CSubstitution - coding silent
HEYLENSG00000163909ENST00000372852p.M1Rc.2T>GSubstitution - Missense
SMYD3ENSG00000185420ENST00000541742p.Q321Rc.962A>GSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.K213fs*8c.633delADeletion - Frameshift
SCGB1D1ENSG00000168515ENST00000306238p.K39fs*24c.114delADeletion - Frameshift
ACTN2ENSG00000077522ENST00000366578p.Q680Hc.2040G>CSubstitution - Missense
BAG5ENSG00000166170ENST00000337322p.L471Pc.1412T>CSubstitution - Missense
PFKFB2ENSG00000123836ENST00000367080p.P416Hc.1247C>ASubstitution - Missense
KIAA0226LENSG00000102445ENST00000429979p.S164Sc.492T>CSubstitution - coding silent
VASH2ENSG00000143494ENST00000366965p.V150Ac.449T>CSubstitution - Missense
TMEM37ENSG00000171227ENST00000306406p.P82Pc.246C>TSubstitution - coding silent
SLC10A7ENSG00000120519ENST00000394062p.M175Vc.523A>GSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.E241Kc.721G>ASubstitution - Missense
ZMYND10ENSG00000004838ENST00000360165p.?c.202-8C>AUnknown
KIAA0226LENSG00000102445ENST00000378797p.S164Sc.492T>CSubstitution - coding silent
CPEB4ENSG00000113742ENST00000265085p.C689Gc.2065T>GSubstitution - Missense
FERD3LENSG00000146618ENST00000275461p.R91Hc.272G>ASubstitution - Missense
LY75ENSG00000054219ENST00000263636p.L1349fs*4c.4046delTDeletion - Frameshift
IDH3GENSG00000067829ENST00000217901p.A106Tc.316G>ASubstitution - Missense
FUKENSG00000157353ENST00000378912p.V308Vc.924G>CSubstitution - coding silent
PCDHGA3ENSG00000254245ENST00000253812p.D665Gc.1994A>GSubstitution - Missense
SPINK13ENSG00000214510ENST00000398450p.H19Qc.57T>GSubstitution - Missense
HNRNPLLENSG00000143889ENST00000409636p.Y226Cc.677A>GSubstitution - Missense
TFAP2AENSG00000137203ENST00000379604p.F379Sc.1136T>CSubstitution - Missense


COSMIC

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