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CMK - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1496 mutations reported
577 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
CXCR5ENSG00000160683ENST00000292174p.R330Cc.988C>TSubstitution - Missense
GLI4ENSG00000250571ENST00000340042p.P14Lc.41C>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.T357Tc.1071C>TSubstitution - coding silent
FGFR1ENSG00000077782ENST00000447712p.T357Tc.1071C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.A1239Tc.3715G>ASubstitution - Missense
KLENSG00000133116ENST00000380099p.D919Nc.2755G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.T1481Ic.4442C>TSubstitution - Missense
MMS19ENSG00000155229ENST00000438925p.L332Fc.996G>CSubstitution - Missense
CSGALNACT1ENSG00000147408ENST00000332246p.G448Rc.1342G>ASubstitution - Missense
DNAH12ENSG00000174844ENST00000351747p.R3034Wc.9100C>TSubstitution - Missense
IRF8ENSG00000140968ENST00000268638p.P187Pc.561G>ASubstitution - coding silent
ENSG00000273259ENST00000393078p.N325Nc.975C>TSubstitution - coding silent
ATAD3AENSG00000197785ENST00000378755p.R338Cc.1012C>TSubstitution - Missense
SOHLH2ENSG00000120669ENST00000379881p.T314Mc.941C>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.R1705Rc.5115A>GSubstitution - coding silent
HIST2H2ACENSG00000184260ENST00000331380p.L94Lc.282G>ASubstitution - coding silent
NRG3ENSG00000185737ENST00000372142p.R481Qc.1442G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.M133Kc.398T>ASubstitution - Missense
INPP5KENSG00000132376ENST00000320345p.R344Hc.1031G>ASubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.R420Hc.1259G>ASubstitution - Missense
DTNBP1ENSG00000047579ENST00000344537p.P105Sc.313C>TSubstitution - Missense
ZNF441ENSG00000197044ENST00000357901p.N203Nc.609C>TSubstitution - coding silent
GATA1ENSG00000102145ENST00000376670p.E2fs*37c.5_7AGT>CComplex - frameshift
TP53ENSG00000141510ENST00000269305p.D49Hc.145G>CSubstitution - Missense
LRP10ENSG00000197324ENST00000359591p.R151Hc.452G>ASubstitution - Missense
PARP2ENSG00000129484ENST00000250416p.I175Vc.523A>GSubstitution - Missense
NM_005484.2p.I126Vc.376A>GSubstitution - Missense
SLC39A2ENSG00000165794ENST00000298681p.A240Ac.720C>TSubstitution - coding silent
RNASE13ENSG00000206150ENST00000382951p.T110Mc.329C>TSubstitution - Missense
JAG2ENSG00000184916ENST00000331782p.Y266Yc.798C>TSubstitution - coding silent
PACS2ENSG00000179364ENST00000325438p.T195Ac.583A>GSubstitution - Missense
PTPREENSG00000132334ENST00000254667p.P670Sc.2008C>TSubstitution - Missense
OPTNENSG00000123240ENST00000263036p.S269Rc.807T>GSubstitution - Missense
ENST00000361282p.M269Vc.805A>GSubstitution - Missense
OLFML1ENSG00000183801ENST00000329293p.K166*c.496A>TSubstitution - Nonsense
USP35ENSG00000118369ENST00000529308p.L491Vc.1471C>GSubstitution - Missense
XM_290527.3p.L247Vc.739C>GSubstitution - Missense
FOLR2ENSG00000165457ENST00000298223p.N149Kc.447C>GSubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.K54Kc.162G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.T605Tc.1815T>CSubstitution - coding silent
KRT74ENSG00000170484ENST00000305620p.T116fs*31c.345_348delCACTDeletion - Frameshift
CPEB1ENSG00000214575ENST00000568128p.T80Ac.238A>GSubstitution - Missense
PLCZ1ENSG00000139151ENST00000266505p.G491Gc.1473T>CSubstitution - coding silent
STRAPENSG00000023734ENST00000419869p.?c.249-8A>CUnknown
DERAENSG00000023697ENST00000428559p.G252Ac.755G>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.?c.697+7T>CUnknown
P2RX2ENSG00000187848ENST00000343948p.E89fs*10c.260_263delCGTCDeletion - Frameshift
POLEENSG00000177084ENST00000320574p.I634Vc.1900A>GSubstitution - Missense
C1QCENSG00000159189ENST00000374637p.A172Ac.516G>CSubstitution - coding silent
TRIM17ENSG00000162931ENST00000366697p.P451Pc.1353C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.L3632Lc.10894C>TSubstitution - coding silent
GDF3ENSG00000184344ENST00000329913p.T160Tc.480C>TSubstitution - coding silent
PPP1R12AENSG00000058272ENST00000261207p.E361Gc.1082A>GSubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.P93Sc.277C>TSubstitution - Missense
TSPAN31ENSG00000135452ENST00000257910p.D142fs*31c.425delADeletion - Frameshift
OR10K2ENSG00000180708ENST00000314902p.V216Vc.648G>TSubstitution - coding silent
ENST00000402751p.I14Mc.42C>GSubstitution - Missense
OR8D1ENSG00000196341ENST00000357821p.L25Lc.75G>ASubstitution - coding silent
MSANTD2ENSG00000120458ENST00000239614p.E376Ec.1128A>GSubstitution - coding silent
RNLSENSG00000184719ENST00000331772p.I221Mc.663A>GSubstitution - Missense
ZMIZ1ENSG00000108175ENST00000334512p.L1044Mc.3130C>ASubstitution - Missense
MAT1AENSG00000151224ENST00000372213p.A295Ac.885A>GSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404857p.R1205Rc.3615G>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000286627p.R1164Rc.3492G>ASubstitution - coding silent
NM_020247p.L193Lc.577C>TSubstitution - coding silent
CREMENSG00000095794ENST00000395895p.P77fs*38c.227_228insAInsertion - Frameshift
ANKRD30AENSG00000148513ENST00000361713p.D1231Yc.3691G>TSubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.M558Vc.1672A>GSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.G1858Ec.5573G>ASubstitution - Missense
ACACBENSG00000076555ENST00000543201p.G524Ec.1571G>ASubstitution - Missense
TAS2R13ENSG00000212128ENST00000390677p.L109Hc.326T>ASubstitution - Missense
KLHL1ENSG00000150361ENST00000377844p.P25Pc.75G>ASubstitution - coding silent
ALG11ENSG00000253710ENST00000521508p.L266Lc.798C>TSubstitution - coding silent
DIAPH3ENSG00000139734ENST00000400324p.R797Wc.2389C>TSubstitution - Missense
NM_172373.2p.P457Sc.1369C>TSubstitution - Missense
DGKHENSG00000102780ENST00000337343p.I738Mc.2214C>GSubstitution - Missense
AKAP11ENSG00000023516ENST00000025301p.P1513Rc.4538C>GSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.R235Qc.704G>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.A189Gc.566C>GSubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.P1088Lc.3263C>TSubstitution - Missense
BLOC1S1ENSG00000135441ENST00000548925p.Y142Yc.426T>CSubstitution - coding silent
ENSG00000258311ENST00000257899p.Y114Yc.342T>CSubstitution - coding silent
PMELENSG00000185664ENST00000552882p.L640Lc.1918C>TSubstitution - coding silent
ERBB3ENSG00000065361ENST00000267101p.R967Kc.2900G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000357071p.R650Qc.1949G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.N1750Sc.5249A>GSubstitution - Missense
ENST00000333854p.G229Gc.687C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.?c.7189-1G>AUnknown
MKXENSG00000150051ENST00000375790p.A122Vc.365C>TSubstitution - Missense
RDH12ENSG00000139988ENST00000267502p.H178Dc.532C>GSubstitution - Missense
C16orf62ENSG00000103544ENST00000251143p.N907Kc.2721C>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.A2652Vc.7955C>TSubstitution - Missense
C1orf27ENSG00000157181ENST00000287859p.V132Lc.394G>CSubstitution - Missense
C1orf27ENSG00000157181ENST00000287859p.V132Lc.394G>CSubstitution - Missense
ATXN7L2ENSG00000162650ENST00000369870p.L224Mc.670C>ASubstitution - Missense
C1orf127ENSG00000175262ENST00000377004p.T546Tc.1638T>CSubstitution - coding silent
C1orf127ENSG00000175262ENST00000377008p.T379Tc.1137T>CSubstitution - coding silent
DCDC1ENSG00000170959ENST00000342355p.L506Pc.1517T>CSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.G24Gc.72C>TSubstitution - coding silent
ANO3ENSG00000134343ENST00000256737p.R123fs*25c.366delCDeletion - Frameshift
ATMENSG00000149311ENST00000278616p.L43Lc.127C>TSubstitution - coding silent
ARHGEF12ENSG00000196914ENST00000397843p.D308Yc.922G>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.K318*c.952A>TSubstitution - Nonsense
GALNT18ENSG00000110328ENST00000227756p.A420Ac.1260A>GSubstitution - coding silent
RBM7ENSG00000076053ENST00000540163p.H212Rc.635A>GSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.R151Kc.452G>ASubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.I314Tc.941T>CSubstitution - Missense
SU_QSKp.T664Tc.1992G>ASubstitution - coding silent
DYRK2ENSG00000127334ENST00000344096p.L576Lc.1728G>TSubstitution - coding silent
TDRD5ENSG00000162782ENST00000367614p.G767Dc.2300G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R1204Hc.3611G>ASubstitution - Missense
QSOX1ENSG00000116260ENST00000367602p.A223Ac.669C>ASubstitution - coding silent
PADI4ENSG00000159339ENST00000375448p.L612Lc.1836G>ASubstitution - coding silent
ANGPTL1ENSG00000116194ENST00000367629p.L175Lc.525A>GSubstitution - coding silent
GLB1L2ENSG00000149328ENST00000339772p.A210Tc.628G>ASubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.T492Tc.1476C>TSubstitution - coding silent
NCSTNENSG00000162736ENST00000368063p.D2Dc.6C>TSubstitution - coding silent
CD244ENSG00000122223ENST00000368033p.A52Sc.154G>TSubstitution - Missense
CD244ENSG00000122223ENST00000368034p.A52Sc.154G>TSubstitution - Missense
FBLIM1ENSG00000162458ENST00000375771p.D96Dc.288C>TSubstitution - coding silent
CSF3RENSG00000119535ENST00000373104p.D40Nc.118G>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.R188Hc.563G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.?c.1436+6G>AUnknown
CENPJENSG00000151849ENST00000381884p.S632Cc.1894A>TSubstitution - Missense
SLC38A1ENSG00000111371ENST00000398637p.S339Sc.1017C>TSubstitution - coding silent
AMOTL1ENSG00000166025ENST00000433060p.M768Vc.2302A>GSubstitution - Missense
SMNDC1ENSG00000119953ENST00000369592p.Q53*c.157C>TSubstitution - Nonsense
SMNDC1ENSG00000119953ENST00000369592p.T52Tc.156T>CSubstitution - coding silent
PKD2L1ENSG00000107593ENST00000318222p.?c.1758+7G>CUnknown
TACC2ENSG00000138162ENST00000453444p.E1109Ec.3327G>ASubstitution - coding silent
ECHDC3ENSG00000134463ENST00000379215p.?c.171-1G>CUnknown
KIAA1598ENSG00000187164ENST00000355371p.P535Pc.1605C>ASubstitution - coding silent
FAM204AENSG00000165669ENST00000369183p.N112Kc.336T>GSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.M96Ic.288G>ASubstitution - Missense
PDCD4ENSG00000150593ENST00000280154p.?c.1349+10T>CUnknown
NHLRC2ENSG00000196865ENST00000369301p.A718Ac.2154T>CSubstitution - coding silent
AKT3ENSG00000117020ENST00000366539p.M117Ic.351G>ASubstitution - Missense
AKT3ENSG00000117020ENST00000336199p.M117Ic.351G>ASubstitution - Missense
AKT3ENSG00000117020ENST00000366539p.M117Ic.351G>ASubstitution - Missense
HNRNPUENSG00000153187ENST00000283179p.G722Gc.2166A>CSubstitution - coding silent
HNRNPUENSG00000153187ENST00000444376p.G703Gc.2109A>CSubstitution - coding silent
CNSTENSG00000162852ENST00000366513p.Q345Kc.1033C>ASubstitution - Missense
CCDC41ENSG00000173588ENST00000339839p.C221Rc.661T>CSubstitution - Missense
SYT12ENSG00000173227ENST00000393946p.Q175Lc.524A>TSubstitution - Missense
NUDT8ENSG00000167799ENST00000301490p.W100Lc.299G>TSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.D2420Nc.7258G>ASubstitution - Missense
EML3ENSG00000149499ENST00000394773p.R259Rc.777T>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.A597Sc.1789G>TSubstitution - Missense
FAM111AENSG00000166801ENST00000528737p.E267Qc.799G>CSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.D2061Nc.6181G>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.P1802Pc.5406C>ASubstitution - coding silent
MMP14ENSG00000157227ENST00000311852p.S254Sc.762G>ASubstitution - coding silent
TPTE2ENSG00000132958ENST00000390680p.L54Vc.160C>GSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.R86Rc.258T>GSubstitution - coding silent
AGRNENSG00000188157ENST00000379370p.?c.2254+4A>GUnknown
LRRC49ENSG00000137821ENST00000260382p.R115Cc.343C>TSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.K45Nc.135G>CSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.S685Sc.2055A>CSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.V865Ic.2593G>ASubstitution - Missense
EIF2S1ENSG00000134001ENST00000256383p.P224Pc.672C>TSubstitution - coding silent
L3HYPDHENSG00000126790ENST00000247194p.R280Qc.839G>ASubstitution - Missense
ODF2LENSG00000122417ENST00000370567p.Y639Nc.1915T>ASubstitution - Missense
CLCA2ENSG00000137975ENST00000370565p.T582Ic.1745C>TSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.?c.1785+8T>AUnknown
KTN1ENSG00000126777ENST00000416613p.?c.1785+9G>TUnknown
LPHN2ENSG00000117114ENST00000359929p.A1027Ac.3081T>CSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370725p.A1055Ac.3165T>CSubstitution - coding silent
TNNI3KENSG00000116783ENST00000326637p.R406Ic.1217G>TSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.A125Ac.375A>CSubstitution - coding silent
MIER1ENSG00000198160ENST00000355356p.S386Ic.1157G>TSubstitution - Missense
RNF207ENSG00000158286ENST00000377939p.E593Qc.1777G>CSubstitution - Missense
GPR3ENSG00000181773ENST00000374024p.F263Sc.788T>CSubstitution - Missense
PAFAH2ENSG00000158006ENST00000374284p.E249Dc.747G>TSubstitution - Missense
SRRM1ENSG00000133226ENST00000323848p.?c.234+9A>GUnknown
PDPNENSG00000162493ENST00000294489p.I218Vc.652A>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.K316Ec.946A>GSubstitution - Missense
ENST00000298047_v61p.K316Ec.946A>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.K2987Rc.8960A>GSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.S58Sc.174A>CSubstitution - coding silent
FZD4ENSG00000174804ENST00000531380p.A34Vc.101C>TSubstitution - Missense
TRIM64BENSG00000189253ENST00000329862p.R358*c.1072C>TSubstitution - Nonsense
UNC13CENSG00000137766ENST00000260323p.K1303Nc.3909G>CSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.K1303Nc.3909G>CSubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.Y734Yc.2202T>CSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.?c.377-5C>AUnknown
SLC26A9ENSG00000174502ENST00000367135p.?c.377-5C>AUnknown
OTUD3ENSG00000169914ENST00000375120p.G288Dc.863G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.R2390Ic.7169G>TSubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.?c.2178-4A>GUnknown
PCSK6ENSG00000140479ENST00000348070p.?c.2178-4A>GUnknown
ATG2BENSG00000066739ENST00000359933p.T1158Tc.3474T>GSubstitution - coding silent
ENST00000343901_v65p.R391Rc.1173C>TSubstitution - coding silent
STILENSG00000123473ENST00000337817p.A1235Pc.3703G>CSubstitution - Missense
TUBGCP4ENSG00000137822ENST00000564079p.E367Ec.1101A>GSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.R2490Wc.7468C>TSubstitution - Missense
MRPL9ENSG00000143436ENST00000368830p.N136Kc.408C>GSubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.P780Ac.2338C>GSubstitution - Missense
CLCN6ENSG00000011021ENST00000346436p.E316Kc.946G>ASubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.A253Ac.759C>TSubstitution - coding silent
ANAPC5ENSG00000089053ENST00000261819p.Y715Yc.2145C>TSubstitution - coding silent
RNFT2ENSG00000135119ENST00000257575p.S61Sc.183G>ASubstitution - coding silent
CITENSG00000122966ENST00000261833p.R874Cc.2620C>TSubstitution - Missense
SU_CRIKp.R917Cc.2749C>TSubstitution - Missense
ETV6ENSG00000139083ENST00000396373p.R163Mc.488G>TSubstitution - Missense
DNALI1ENSG00000163879ENST00000296218p.S244Nc.731G>ASubstitution - Missense
INPP5BENSG00000204084ENST00000373026p.Q503Rc.1508A>GSubstitution - Missense
CTSWENSG00000172543ENST00000307886p.T261Tc.783C>TSubstitution - coding silent
CATSPER1ENSG00000175294ENST00000312106p.M363Tc.1088T>CSubstitution - Missense
ARID5BENSG00000150347ENST00000279873p.L1016Vc.3046C>GSubstitution - Missense
ZNF365ENSG00000138311ENST00000395251p.I7Kc.20T>ASubstitution - Missense
DKK1ENSG00000107984ENST00000373970p.M178Lc.532A>CSubstitution - Missense
AGAP6ENSG00000204149ENST00000374056p.V516Lc.1546G>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R1482Qc.4445G>ASubstitution - Missense
ZDHHC22ENSG00000177108ENST00000319374p.A198Ac.594C>TSubstitution - coding silent
FAM161BENSG00000156050ENST00000286544p.F577Lc.1731C>GSubstitution - Missense
FAM161BENSG00000156050ENST00000286544p.F514Lc.1542C>GSubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.V499Ic.1495G>ASubstitution - Missense
EXTL3ENSG00000012232ENST00000220562p.D200Dc.600C>TSubstitution - coding silent
EOGTENSG00000163378ENST00000295571p.F391Fc.1173T>CSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.F2106Fc.6318C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.F2075Fc.6225C>TSubstitution - coding silent
ACTR8ENSG00000113812ENST00000335754p.P395Pc.1185C>TSubstitution - coding silent
ANKRD20A4ENSG00000172014ENST00000357336p.Q428*c.1282C>TSubstitution - Nonsense
RECKENSG00000122707ENST00000377966p.R509Rc.1527A>GSubstitution - coding silent
PAX5ENSG00000196092ENST00000358127p.L228Lc.682T>CSubstitution - coding silent
EXOC4ENSG00000131558ENST00000545148p.L222Ic.664C>ASubstitution - Missense
RBM28ENSG00000106344ENST00000223073p.C44Cc.132T>CSubstitution - coding silent
ZBP1ENSG00000124256ENST00000371173p.G75Gc.225C>TSubstitution - coding silent
KIAA1755ENSG00000149633ENST00000279024p.L321Qc.962T>ASubstitution - Missense
C20orf194ENSG00000088854ENST00000252032p.L117fs*16c.349delCDeletion - Frameshift
RBM12ENSG00000244462ENST00000374104p.P197Pc.591A>GSubstitution - coding silent
PHF20ENSG00000025293ENST00000374012p.H386Yc.1156C>TSubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.D153Ec.459C>ASubstitution - Missense
BPIFB1ENSG00000125999ENST00000253354p.V203Mc.607G>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.N193Nc.579T>CSubstitution - coding silent
SLC4A11ENSG00000088836ENST00000380056p.N166Nc.498T>CSubstitution - coding silent
ZNF341ENSG00000131061ENST00000342427p.R715Hc.2144G>ASubstitution - Missense
TTYH1ENSG00000167614ENST00000376530p.D427Dc.1281T>CSubstitution - coding silent
MED25ENSG00000104973ENST00000312865p.A115Vc.344C>TSubstitution - Missense
MED25ENSG00000104973ENST00000312865p.P267Pc.801C>TSubstitution - coding silent
ENST00000312881p.P267Pc.801C>TSubstitution - coding silent
NUP62ENSG00000213024ENST00000352066p.G91Rc.271G>ASubstitution - Missense
ENST00000456956p.Y117Hc.349T>CSubstitution - Missense
C20orf112ENSG00000197183ENST00000326071p.Y117Hc.349T>CSubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.P224Sc.670C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.D49Hc.145G>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.D49Hc.145G>CSubstitution - Missense
TRIM65ENSG00000141569ENST00000269383p.Q149Lc.446A>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.Y311Yc.933T>CSubstitution - coding silent
COL4A6ENSG00000197565ENST00000334504p.G423Gc.1269C>TSubstitution - coding silent
COL4A6ENSG00000197565ENST00000394872p.G424Gc.1272C>TSubstitution - coding silent
MYOCDENSG00000141052ENST00000425538p.L83Lc.249C>TSubstitution - coding silent
ENST00000331986p.S6037Rc.18111C>ASubstitution - Missense
ARHGEF18ENSG00000104880ENST00000359920p.L402Rc.1205T>GSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000319670p.L244Rc.731T>GSubstitution - Missense
MOSPD1ENSG00000101928ENST00000370783p.P43Lc.128C>TSubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.G342Ec.1025G>ASubstitution - Missense
CSPP1ENSG00000104218ENST00000262210p.H1004Rc.3011A>GSubstitution - Missense
ANGPT2ENSG00000091879ENST00000325203p.N257Ic.770A>TSubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.G496Vc.1487G>TSubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.G496Vc.1487G>TSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.K1034Qc.3100A>CSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.N177Nc.531T>CSubstitution - coding silent
DUSP19ENSG00000162999ENST00000354221p.G101Gc.303A>GSubstitution - coding silent
PDE1AENSG00000115252ENST00000410103p.E208*c.622G>TSubstitution - Nonsense
PDE1AENSG00000115252ENST00000456212p.E208*c.622G>TSubstitution - Nonsense
PDE1AENSG00000115252ENST00000346717p.E174*c.520G>TSubstitution - Nonsense
ENST00000356127p.P6271Lc.18812C>TSubstitution - Missense
TMEM74BENSG00000125895ENST00000381894p.I223Vc.667A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5430Sc.16290C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S5430Sc.16290C>TSubstitution - coding silent
SP6ENSG00000189120ENST00000342234p.E79Dc.237G>TSubstitution - Missense
SPNS2ENSG00000183018ENST00000329078p.A459Sc.1375G>TSubstitution - Missense
OIP5ENSG00000104147ENST00000220514p.P49Lc.146C>TSubstitution - Missense
DPH6ENSG00000134146ENST00000256538p.I188Vc.562A>GSubstitution - Missense
THBS1ENSG00000137801ENST00000260356p.C910Yc.2729G>ASubstitution - Missense
FSIP1ENSG00000150667ENST00000350221p.?c.892-2A>TUnknown
C1QTNF9BENSG00000205863ENST00000382140p.P151Lc.452C>TSubstitution - Missense
TMCO3ENSG00000150403ENST00000434316p.L584fs*5c.1748delCDeletion - Frameshift
TPTE2ENSG00000132958ENST00000400230p.L91Vc.271C>GSubstitution - Missense
ZNF250ENSG00000196150ENST00000292579p.C122Sc.365G>CSubstitution - Missense
EXOSC4ENSG00000178896ENST00000316052p.E238Qc.712G>CSubstitution - Missense
PLECENSG00000178209ENST00000436759p.G3499Gc.10497C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.G3472Gc.10416C>TSubstitution - coding silent
TECPR1ENSG00000205356ENST00000379795p.Q703Kc.2107C>ASubstitution - Missense
ZSCAN25ENSG00000197037ENST00000394152p.P261Pc.783G>TSubstitution - coding silent
RBM48ENSG00000127993ENST00000265732p.I307Nc.920T>ASubstitution - Missense
HEPACAM2ENSG00000188175ENST00000394468p.H190Yc.568C>TSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.H840Rc.2519A>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.H840Rc.2519A>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.E116Ec.348A>GSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.E116Ec.348A>GSubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.S580Sc.1740G>ASubstitution - coding silent
ENST00000377989p.R153*c.457C>TSubstitution - Nonsense
LRRC16AENSG00000079691ENST00000329474p.D533Dc.1599C>TSubstitution - coding silent
ENST00000399313p.D533Dc.1599C>TSubstitution - coding silent
HIST1H1CENSG00000187837ENST00000343677p.P161Rc.482C>GSubstitution - Missense
ENST00000273600p.D3214Dc.9642T>CSubstitution - coding silent
MLLT4ENSG00000130396ENST00000392108p.L287Vc.859C>GSubstitution - Missense
ENST00000366809p.L286Vc.856C>GSubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.L287Vc.859C>GSubstitution - Missense
ACY1ENSG00000243989ENST00000458031p.M19Vc.55A>GSubstitution - Missense
ENST00000273600p.R1087Cc.3259C>TSubstitution - Missense
CORINENSG00000145244ENST00000273857p.S683Rc.2049T>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.P1555Pc.4665C>ASubstitution - coding silent
DTHD1ENSG00000197057ENST00000456874p.L268Vc.802C>GSubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.L103Vc.307C>GSubstitution - Missense
LTN1ENSG00000198862ENST00000361371p.K783Ec.2347A>GSubstitution - Missense
LTN1ENSG00000198862ENST00000361371p.D695Dc.2085T>CSubstitution - coding silent
NCAM2ENSG00000154654ENST00000400546p.P240Pc.720C>TSubstitution - coding silent
CASC3ENSG00000108349ENST00000264645p.R350Qc.1049G>ASubstitution - Missense
CDC6ENSG00000094804ENST00000209728p.E487Ec.1461A>GSubstitution - coding silent
DDX52ENSG00000141141ENST00000349699p.T92Tc.276G>ASubstitution - coding silent
C17orf85ENSG00000074356ENST00000158149p.A146Gc.437C>GSubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.?c.3709+6G>CUnknown
SEPT11ENSG00000138758ENST00000264893p.I44Ic.132C>TSubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.T702Tc.2106C>TSubstitution - coding silent
NM_020777.1p.A115Tc.343G>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.Q198Qc.594G>ASubstitution - coding silent
PKNOX1ENSG00000160199ENST00000291547p.A394Vc.1181C>TSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.R961Cc.2881C>TSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.R1404Qc.4211G>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.N328Nc.984C>TSubstitution - coding silent
C2CD2ENSG00000157617ENST00000380486p.R157Rc.471G>TSubstitution - coding silent
ZNF442ENSG00000198342ENST00000242804p.G5Vc.14G>TSubstitution - Missense
CALRENSG00000179218ENST00000316448p.D59Dc.177C>TSubstitution - coding silent
SPC24ENSG00000161888ENST00000423327p.E196Dc.588G>TSubstitution - Missense
GALNT1ENSG00000141429ENST00000269195p.F162Ic.484T>ASubstitution - Missense
NM_015461.1p.?c.3907-19_3914>12Unknown
WDR45BENSG00000141580ENST00000392325p.F213Vc.637T>GSubstitution - Missense
ENST00000436173p.P958Pc.2874C>TSubstitution - coding silent
P4HBENSG00000185624ENST00000331483p.K386Kc.1158A>GSubstitution - coding silent
CCDC40ENSG00000141519ENST00000397545p.T146Sc.437C>GSubstitution - Missense
ENST00000411702p.M616Lc.1846A>CSubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.M567Lc.1699A>CSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.A1011Tc.3031G>ASubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.R209Wc.625C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.C998Rc.2992T>CSubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.G1530Ec.4589G>ASubstitution - Missense
SLC47A1ENSG00000142494ENST00000270570p.D328Ac.983A>CSubstitution - Missense
TEX2ENSG00000136478ENST00000258991p.H522Yc.1564C>TSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.T324Tc.972A>TSubstitution - coding silent
BRIP1ENSG00000136492ENST00000259008p.T324Tc.972A>TSubstitution - coding silent
DCAF4L2ENSG00000176566ENST00000319675p.S342Gc.1024A>GSubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.S226Ac.676T>GSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.S221Ac.661T>GSubstitution - Missense
THAP9ENSG00000168152ENST00000302236p.?c.731+1G>AUnknown
AFAP1ENSG00000196526ENST00000420658p.E246fs*7c.732_733insAInsertion - Frameshift
SLC4A7ENSG00000033867ENST00000295736p.R318Hc.953G>ASubstitution - Missense
SLC4A7ENSG00000033867ENST00000295736p.T89Ac.265A>GSubstitution - Missense
MTMR14ENSG00000163719ENST00000296003p.?c.1128-3C>TUnknown
OR5K1ENSG00000232382ENST00000332650p.V167Vc.501T>GSubstitution - coding silent
ENST00000405167p.S1018Cc.3053C>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.S3724Cc.11171C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.F279Yc.836T>ASubstitution - Missense
ENST00000405167p.F4387Ic.13159T>ASubstitution - Missense
SLC4A1APENSG00000163798ENST00000326019p.S408Tc.1222T>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.P1700Pc.5100C>TSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.?c.354+1G>AUnknown
C2orf16ENSG00000221843ENST00000408964p.E832Ac.2495A>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.?c.3713-5C>GUnknown
ZNF347ENSG00000197937ENST00000334197p.L179Pc.536T>CSubstitution - Missense
VN1R4ENSG00000228567ENST00000311170p.P223Pc.669C>GSubstitution - coding silent
PRPF31ENSG00000105618ENST00000321030p.?c.527+8C>TUnknown
ZNF841ENSG00000197608ENST00000389534p.L780Lc.2340C>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000389534p.L780Lc.2340C>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000359973p.L356Lc.1068C>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000359973p.L221Lc.663C>ASubstitution - coding silent
MYH3ENSG00000109063ENST00000226209p.F822Lc.2466C>GSubstitution - Missense
SPATA33ENSG00000167523ENST00000301031p.G18Rc.52G>CSubstitution - Missense
ZCCHC14ENSG00000140948ENST00000268616p.P472Pc.1416C>GSubstitution - coding silent
FOXC2ENSG00000176692ENST00000320354p.K170Rc.509A>GSubstitution - Missense
ZNF263ENSG00000006194ENST00000219069p.E78Gc.233A>GSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.Y268Cc.803A>GSubstitution - Missense
TGFB1I1ENSG00000140682ENST00000394863p.P136Sc.406C>TSubstitution - Missense
TGFB1I1ENSG00000140682ENST00000394858p.P119Sc.355C>TSubstitution - Missense
MEFVENSG00000103313ENST00000219596p.M680Ic.2040G>CSubstitution - Missense
BBXENSG00000114439ENST00000325805p.S457fs*44c.1366delADeletion - Frameshift
BBXENSG00000114439ENST00000415149p.S457fs*44c.1366delADeletion - Frameshift
LYG2ENSG00000185674ENST00000333017p.?c.44-4C>TUnknown
EMC3ENSG00000125037ENST00000245046p.D162Hc.484G>CSubstitution - Missense
HADHBENSG00000138029ENST00000317799p.G150Sc.448G>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.E1305fs*4c.3909_3910insGInsertion - Frameshift
ENST00000331807p.L177Fc.529C>TSubstitution - Missense
WDR12ENSG00000138442ENST00000261015p.F53Lc.159T>ASubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.P323Pc.969G>ASubstitution - coding silent
BOLLENSG00000152430ENST00000392296p.S47fs*3c.141delTDeletion - Frameshift
SATB2ENSG00000119042ENST00000417098p.S263Pc.787T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V24147Vc.72441C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.V17775Vc.53325C>ASubstitution - coding silent
NM_003319p.V17650Vc.52950C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.V17842Ac.53525T>CSubstitution - Missense
COMTENSG00000093010ENST00000361682p.G70Wc.208G>TSubstitution - Missense
ARVCFENSG00000099889ENST00000263207p.?c.1870+5_1870+6insGUnknown
ID1ENSG00000125968ENST00000376112p.C17Yc.50G>ASubstitution - Missense
KIF3BENSG00000101350ENST00000375712p.G204Sc.610G>ASubstitution - Missense
PCNTENSG00000160299ENST00000359568p.L2635Fc.7903C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.F523Fc.1569C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.F523Fc.1569C>TSubstitution - coding silent
GATA6ENSG00000141448ENST00000269216p.N497Dc.1489A>GSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.T656Ac.1966A>GSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.T656Ac.1966A>GSubstitution - Missense
PFASENSG00000178921ENST00000314666p.N84Sc.251A>GSubstitution - Missense
RPL7ENSG00000147604ENST00000352983p.N80Yc.238A>TSubstitution - Missense
SLC7A2ENSG00000003989ENST00000470360p.?c.1312+2T>GUnknown
ENST00000334070p.K84Tc.251A>CSubstitution - Missense
ENST00000360191p.V219Ic.655G>ASubstitution - Missense
KIFC2ENSG00000167702ENST00000301332p.S477Sc.1431C>TSubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356860p.R197Rc.591C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.I587Mc.1761T>GSubstitution - Missense
DTNBP1ENSG00000047579ENST00000344537p.P105Lc.314C>TSubstitution - Missense
DTNBP1ENSG00000047579ENST00000338950p.P105Lc.314C>TSubstitution - Missense
DTNBP1ENSG00000047579ENST00000338950p.P105Sc.313C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.T1390Ac.4168A>GSubstitution - Missense
NOX3ENSG00000074771ENST00000159060p.T251Tc.753A>TSubstitution - coding silent
CCDC170ENSG00000120262ENST00000239374p.S658Lc.1973C>TSubstitution - Missense
ENST00000544394p.K292Nc.876G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.23302-8C>TUnknown
SYNE1ENSG00000131018ENST00000265368p.?c.23302-8C>TUnknown
SYNE1ENSG00000131018ENST00000265368p.?c.21862-10C>GUnknown
SYNE1ENSG00000131018ENST00000265368p.?c.21862-10C>GUnknown
ADGBENSG00000118492ENST00000397944p.?c.1311+7A>GUnknown
PLEKHG1ENSG00000120278ENST00000358517p.R405Cc.1213C>TSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.L119Lc.357C>TSubstitution - coding silent
MAP3K5ENSG00000197442ENST00000359015p.T1308Ic.3923C>TSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.S998Sc.2994C>TSubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.L201Lc.601C>TSubstitution - coding silent
NM_033267.2p.T126Tc.378G>ASubstitution - coding silent
C5orf22ENSG00000082213ENST00000325366p.R345Wc.1033C>TSubstitution - Missense
OR2Y1ENSG00000174339ENST00000307832p.R128Hc.383G>ASubstitution - Missense
RAB33BENSG00000172007ENST00000305626p.L86Lc.258A>GSubstitution - coding silent
MAEAENSG00000090316ENST00000303400p.Y275Cc.824A>GSubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.F374Ic.1120T>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.V4161Ic.12481G>ASubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.R782Cc.2344C>TSubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.L311Fc.933A>CSubstitution - Missense
AGTR1ENSG00000144891ENST00000349243p.Y54Dc.160T>GSubstitution - Missense
EIF2AENSG00000144895ENST00000460851p.H491Rc.1472A>GSubstitution - Missense
EIF2AENSG00000144895ENST00000487799p.H466Rc.1397A>GSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.S1873Nc.5618G>ASubstitution - Missense
TRABD2AENSG00000186854ENST00000335459p.P305_P309delPAGRPc.913_927del15Deletion - In frame
C3orf58ENSG00000181744ENST00000315691p.K391Ec.1171A>GSubstitution - Missense
DOK1ENSG00000115325ENST00000233668p.I305Lc.913A>CSubstitution - Missense
ENST00000544512p.P965Lc.2894C>TSubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.F439Cc.1316T>GSubstitution - Missense
ENSG00000172901ENST00000357872p.A441Ac.1323A>GSubstitution - coding silent
CAPN15ENSG00000103326ENST00000219611p.G19Cc.55G>TSubstitution - Missense
SMARCAD1ENSG00000163104ENST00000354268p.S466Lc.1397C>TSubstitution - Missense
PAMENSG00000145730ENST00000455264p.M229Ic.687G>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.A585Vc.1754C>TSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.Q757Qc.2271A>GSubstitution - coding silent
DLEC1ENSG00000008226ENST00000308059p.F510Fc.1530C>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.Y223Hc.667T>CSubstitution - Missense
ZNF860ENSG00000197385ENST00000360311p.W116Rc.346T>CSubstitution - Missense
TRIM71ENSG00000206557ENST00000383763p.G684Cc.2050G>TSubstitution - Missense
C2orf50ENSG00000150873ENST00000381585p.R56Gc.166C>GSubstitution - Missense
ARSAENSG00000100299ENST00000395619p.?c.1108-7C>GUnknown
ACADVLENSG00000072778ENST00000356839p.R538Rc.1614G>ASubstitution - coding silent
AMZ2ENSG00000196704ENST00000392720p.F209Lc.625T>CSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.G1403Rc.4207G>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.?c.2277-10C>TUnknown
NLRP5ENSG00000171487ENST00000390649p.H1048Yc.3142C>TSubstitution - Missense
FIZ1ENSG00000179943ENST00000221665p.G410Gc.1230C>TSubstitution - coding silent
RBM10ENSG00000182872ENST00000377604p.N392Sc.1175A>GSubstitution - Missense
ZNF41ENSG00000147124ENST00000313116p.T344Rc.1031C>GSubstitution - Missense
ELK1ENSG00000126767ENST00000247161p.A260Ac.780G>CSubstitution - coding silent
ELK1ENSG00000126767ENST00000247161p.A260Ac.780G>CSubstitution - coding silent
XM_098980.6p.G589Gc.1767A>GSubstitution - coding silent
HGSNATENSG00000165102ENST00000297798p.I345Ic.1035C>TSubstitution - coding silent
ADAM9ENSG00000168615ENST00000487273p.Q36Lc.107A>TSubstitution - Missense
NRG1ENSG00000157168ENST00000356819p.?c.632+2T>AUnknown
NRG1ENSG00000157168ENST00000520502p.?c.797+2T>AUnknown
TBC1D9ENSG00000109436ENST00000442267p.?c.2974+7A>CUnknown
PCCBENSG00000114054ENST00000251654p.?c.655-2A>CUnknown
AMOTL2ENSG00000114019ENST00000249883p.?c.1279+3_1279+6delgagtUnknown
PLA1AENSG00000144837ENST00000273371p.G127Gc.381A>GSubstitution - coding silent
NXPH2ENSG00000144227ENST00000272641p.E192Kc.574G>ASubstitution - Missense
SLC6A11ENSG00000132164ENST00000254488p.?c.1371+3G>AUnknown
CCDC74BENSG00000152076ENST00000310463p.P186Pc.558C>GSubstitution - coding silent
RNF40ENSG00000103549ENST00000324685p.R375Qc.1124G>ASubstitution - Missense
ATP2A1ENSG00000196296ENST00000357084p.I232Ic.696T>ASubstitution - coding silent
SAE1ENSG00000142230ENST00000270225p.L55Lc.165C>TSubstitution - coding silent
SAE1ENSG00000142230ENST00000413379p.L55Lc.165C>TSubstitution - coding silent
KLC3ENSG00000104892ENST00000391946p.Q335Qc.1005G>ASubstitution - coding silent
FCHO1ENSG00000130475ENST00000252771p.S77Sc.231C>TSubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.K427fs*6c.1276_1277delAADeletion - Frameshift
CYLC1ENSG00000183035ENST00000329312p.K427fs*6c.1276_1277delAADeletion - Frameshift
ITIH6ENSG00000102313ENST00000218436p.L794Vc.2380C>GSubstitution - Missense
C9orf37ENSG00000203993ENST00000371417p.E123Kc.367G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.R498Wc.1492C>TSubstitution - Missense
C9orf139ENSG00000180539ENST00000314330p.S190Fc.569C>TSubstitution - Missense
AUTS2ENSG00000158321ENST00000403018p.K261Rc.782A>GSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.W649Rc.1945T>ASubstitution - Missense
POM121ENSG00000196313ENST00000395270p.G700Ac.2099G>CSubstitution - Missense
RAC1ENSG00000136238ENST00000348035p.I21Mc.63C>GSubstitution - Missense
PRKRIP1ENSG00000128563ENST00000496391p.T181Tc.543C>TSubstitution - coding silent
ENST00000354783_v65p.H122Yc.364C>TSubstitution - Missense
UNC5CLENSG00000124602ENST00000373164p.Y313Cc.938A>GSubstitution - Missense
FOXP4ENSG00000137166ENST00000373060p.S7Sc.21G>ASubstitution - coding silent
CUL7ENSG00000044090ENST00000265348p.Y864Yc.2592T>CSubstitution - coding silent
BTBD9ENSG00000183826ENST00000314100p.E103Ec.309A>GSubstitution - coding silent
SRPK1ENSG00000096063ENST00000373822p.?c.70-9C>TUnknown
COL4A3BPENSG00000113163ENST00000380494p.A373Ac.1119G>ASubstitution - coding silent
COL4A3BPENSG00000113163ENST00000405807p.A245Ac.735G>ASubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.R362Wc.1084C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.I2461Ic.7383C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.T1869Tc.5607C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.T1246Tc.3738C>TSubstitution - coding silent
ZKSCAN7ENSG00000196345ENST00000273320p.Y448Cc.1343A>GSubstitution - Missense
CCR5ENSG00000160791ENST00000343801p.F113fs*10c.336delCDeletion - Frameshift
EFCAB6ENSG00000186976ENST00000262726p.C1102Cc.3306T>CSubstitution - coding silent
ENST00000358511_v70p.S1973Sc.5919C>TSubstitution - coding silent
TXNRD3ENSG00000197763ENST00000524230p.R316Sc.948G>CSubstitution - Missense
RPL32ENSG00000144713ENST00000396953p.A3Sc.7G>TSubstitution - Missense
CMPK2ENSG00000134326ENST00000256722p.P429Lc.1286C>TSubstitution - Missense
FAM161AENSG00000170264ENST00000405894p.H464Rc.1391A>GSubstitution - Missense
PNPT1ENSG00000138035ENST00000447944p.K378Tc.1133A>CSubstitution - Missense
CHRNDENSG00000135902ENST00000258385p.V493Ic.1477G>ASubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.?c.492-8T>GUnknown
GIGYF2ENSG00000204120ENST00000373563p.?c.492-8T>GUnknown
GIGYF2ENSG00000204120ENST00000409451p.R274Cc.820C>TSubstitution - Missense
NGEFENSG00000066248ENST00000264051p.I676fs*>35c.2027delTDeletion - Frameshift
NGEFENSG00000066248ENST00000373552p.I584fs*>35c.1751delTDeletion - Frameshift
TRIP12ENSG00000153827ENST00000283943p.?c.5679-4A>GUnknown
ZNF142ENSG00000115568ENST00000411696p.T1042Ac.3124A>GSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.?c.816-9C>GUnknown
IWS1ENSG00000163166ENST00000295321p.S159Fc.476C>TSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.D119Vc.356A>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.E639Dc.1917G>CSubstitution - Missense
MAGEB6ENSG00000176746ENST00000379034p.Q149Rc.446A>GSubstitution - Missense
DMDENSG00000198947ENST00000378723p.L227Pc.680T>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.K2696Nc.8088G>CSubstitution - Missense
DMDENSG00000198947ENST00000378707p.K240Nc.720G>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.K2696Nc.8088G>CSubstitution - Missense
ENST00000378682p.K1359Nc.4077G>CSubstitution - Missense
TMEM243ENSG00000135185ENST00000257637p.E2Ec.6G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.T1932_S1933insTc.5793_5794insACCInsertion - In frame
VPS13AENSG00000197969ENST00000376634p.T1932_S1933insTc.5793_5794insACCInsertion - In frame
MAMDC4ENSG00000177943ENST00000317446p.G255Rc.763G>ASubstitution - Missense
GPR151ENSG00000173250ENST00000311104p.R393Kc.1178G>ASubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.Y848Hc.2542T>CSubstitution - Missense
ACTRT3ENSG00000184378ENST00000330368p.P7Ac.19C>GSubstitution - Missense
KCNK6ENSG00000099337ENST00000263372p.A225Ac.675C>TSubstitution - coding silent
ENSG00000272333ENST00000222270p.P174Ac.520C>GSubstitution - Missense
ENSG00000272333ENST00000222270p.G823Ac.2468G>CSubstitution - Missense
ENSG00000272333ENST00000222270p.V2077Vc.6231G>ASubstitution - coding silent
ZNF792ENSG00000180884ENST00000404801p.Y22Yc.66C>TSubstitution - coding silent
AKAP1ENSG00000121057ENST00000337714p.A565Ac.1695G>ASubstitution - coding silent
BZRAP1ENSG00000005379ENST00000343736p.?c.2930-7C>TUnknown
BZRAP1ENSG00000005379ENST00000355701p.?c.2930-7C>TUnknown
CA10ENSG00000154975ENST00000340813p.S8Sc.24A>GSubstitution - coding silent
ANKFN1ENSG00000153930ENST00000318698p.M150Vc.448A>GSubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.Q614Hc.1842G>CSubstitution - Missense
PTGES3L-AARSD1ENSG00000108825ENST00000421990p.D444Dc.1332T>CSubstitution - coding silent
PTGES3L-AARSD1ENSG00000108825ENST00000360221p.D383Dc.1149T>CSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.H1694Hc.5082C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000357654p.H1673Hc.5019C>TSubstitution - coding silent
STAT5BENSG00000173757ENST00000293328p.L119Vc.355T>GSubstitution - Missense
GASTENSG00000184502ENST00000329402p.?c.212-6C>AUnknown
ENST00000449046_v65p.I108Tc.323T>CSubstitution - Missense
CCL4L1ENSG00000205020ENST00000444414p.D29Vc.86A>TSubstitution - Missense
ENSG00000228768ENST00000412403p.G108Sc.322G>ASubstitution - Missense
ENST00000412403_v68p.G108Sc.322G>ASubstitution - Missense
SENP6ENSG00000112701ENST00000447266p.A310Gc.929C>GSubstitution - Missense
KIAA1958ENSG00000165185ENST00000337530p.K490Rc.1469A>GSubstitution - Missense
KLF4ENSG00000136826ENST00000374672p.A68Gc.203C>GSubstitution - Missense
RNF20ENSG00000155827ENST00000389120p.E766Qc.2296G>CSubstitution - Missense
USP17L2ENSG00000223443ENST00000333796p.L526Pc.1577T>CSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.L546Lc.1638G>ASubstitution - coding silent
GATA4ENSG00000136574ENST00000335135p.H376Qc.1128C>GSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.P4162Pc.12486C>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.L4163Fc.12487C>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.G931Gc.2793C>ASubstitution - coding silent
PAK1IP1ENSG00000111845ENST00000379568p.S358Gc.1072A>GSubstitution - Missense
TNRC6BENSG00000100354ENST00000301923p.?c.1524+5G>AUnknown
TNRC6BENSG00000100354ENST00000454349p.?c.3978+5G>AUnknown
ST13ENSG00000100380ENST00000216218p.K63Ec.187A>GSubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.K482Nc.1446A>CSubstitution - Missense
DDX17ENSG00000100201ENST00000403230p.A600Ac.1800A>GSubstitution - coding silent
DDX17ENSG00000100201ENST00000381633p.A523Ac.1569A>GSubstitution - coding silent
SUN2ENSG00000100242ENST00000405510p.D258Gc.773A>GSubstitution - Missense
ICAM3ENSG00000076662ENST00000160262p.A340Pc.1018G>CSubstitution - Missense
NFATC1ENSG00000131196ENST00000329101p.?c.2054-9T>CUnknown
COL5A3ENSG00000080573ENST00000264828p.A624Ac.1872T>CSubstitution - coding silent
ZNF407ENSG00000215421ENST00000299687p.M1948Vc.5842A>GSubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.S826Sc.2478C>TSubstitution - coding silent
NLGN4YENSG00000165246ENST00000355905p.E161Ec.483A>GSubstitution - coding silent
RHOBTB3ENSG00000164292ENST00000379982p.S467Pc.1399T>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.V955Dc.2864T>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.P1094Pc.3282A>GSubstitution - coding silent
CDKL3ENSG00000006837ENST00000265334p.E2Gc.5A>GSubstitution - Missense
GRAMD3ENSG00000155324ENST00000285689p.P226Tc.676C>ASubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.R661Rc.1983G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.R4079Ic.12236G>TSubstitution - Missense
RBM46ENSG00000151962ENST00000281722p.L116Fc.348A>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.D958Dc.2874C>TSubstitution - coding silent
DCLK2ENSG00000170390ENST00000302176p.?c.2008-4G>CUnknown
DCLK2ENSG00000170390ENST00000296550p.?c.1957-4G>CUnknown
XRN1ENSG00000114127ENST00000264951p.T1670Ic.5009C>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.?c.2974+7A>CUnknown
OR7A5ENSG00000188269ENST00000322301p.Y216Yc.648C>TSubstitution - coding silent
DCTN5ENSG00000166847ENST00000300087p.L3Fc.9G>TSubstitution - Missense
CC2D1AENSG00000132024ENST00000318003p.L794Lc.2380C>TSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.S666Sc.1998C>TSubstitution - coding silent
DHX38ENSG00000140829ENST00000268482p.E141Dc.423A>TSubstitution - Missense
ENST00000293882_v62p.R148Wc.442C>TSubstitution - Missense
JMJD8ENSG00000161999ENST00000293882p.R148Wc.442C>TSubstitution - Missense
ENST00000316490p.N2840Sc.8519A>GSubstitution - Missense
ENST00000309900p.N446Sc.1337A>GSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.C324Rc.970T>CSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.Y1164Hc.3490T>CSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.P2176Pc.6528T>GSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.P2151Pc.6453T>GSubstitution - coding silent
PHKG1ENSG00000164776ENST00000297373p.Y46Yc.138C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.K686Ec.2056A>GSubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.N749Sc.2246A>GSubstitution - Missense
GALNT11ENSG00000178234ENST00000320311p.R580Tc.1739G>CSubstitution - Missense
GIMAP1ENSG00000213203ENST00000307194p.K154Qc.460A>CSubstitution - Missense
ASIC3ENSG00000213199ENST00000357922p.S15Lc.44C>TSubstitution - Missense
AGAP3ENSG00000133612ENST00000397238p.R378Wc.1132C>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.A747Ac.2241G>ASubstitution - coding silent
CNTNAP2ENSG00000174469ENST00000361727p.T968Sc.2902A>TSubstitution - Missense
ZNF746ENSG00000181220ENST00000340622p.R158Hc.473G>ASubstitution - Missense
PIPENSG00000159763ENST00000291009p.R2Cc.4C>TSubstitution - Missense
NM_001007157.1p.W913Cc.2739G>CSubstitution - Missense
ZNF277ENSG00000198839ENST00000361822p.I207Mc.621T>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.T631Pc.1891A>CSubstitution - Missense
DLDENSG00000091140ENST00000205402p.S10Fc.29C>TSubstitution - Missense
APOMENSG00000204444ENST00000375916p.?c.269+7G>AUnknown
APOMENSG00000204444ENST00000375918p.?c.53+7G>AUnknown
MDC1ENSG00000137337ENST00000376406p.R161Gc.481A>GSubstitution - Missense
OR2W1ENSG00000204704ENST00000377175p.S152Tc.455G>CSubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.L839Fc.2515C>TSubstitution - Missense
NM_023038.2p.P316Rc.947C>GSubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.S274Sc.822C>GSubstitution - coding silent
SLC36A3ENSG00000186334ENST00000335230p.A158Vc.473C>TSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.T426Tc.1278T>CSubstitution - coding silent
PCDHA3ENSG00000255408ENST00000522353p.A427Ac.1281T>ASubstitution - coding silent
ENST00000378129p.A427Ac.1281T>ASubstitution - coding silent
ENST00000337359p.T247Ac.739A>GSubstitution - Missense
HSPA9ENSG00000113013ENST00000297185p.G540Rc.1618G>ASubstitution - Missense
PNCKENSG00000130822ENST00000447676p.?c.663+9C>TUnknown
PNCKENSG00000130822ENST00000393831p.?c.414+9C>TUnknown
SU_CaMK1bp.?c.414+9C>TUnknown
SLITRK2ENSG00000185985ENST00000447897p.Q666Lc.1997A>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.G622Ec.1865G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.G622Ec.1865G>ASubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.C1363Cc.4089C>TSubstitution - coding silent
CCDC129ENSG00000180347ENST00000407970p.G823Vc.2468G>TSubstitution - Missense
CCDC129ENSG00000180347ENST00000319386p.G675Vc.2024G>TSubstitution - Missense
LTBP4ENSG00000090006ENST00000308370p.?c.1760-10G>AUnknown
CYP2A6ENSG00000255974ENST00000301141p.Y351Hc.1051T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S4652Lc.13955C>TSubstitution - Missense
ZNF780AENSG00000197782ENST00000455521p.R512*c.1534A>TSubstitution - Nonsense
ZNF780AENSG00000197782ENST00000340963p.R477*c.1429A>TSubstitution - Nonsense
ZNF780AENSG00000197782ENST00000455521p.L249Vc.745C>GSubstitution - Missense
ZNF780AENSG00000197782ENST00000340963p.L214Vc.640C>GSubstitution - Missense
C19orf47ENSG00000160392ENST00000392035p.Q163Qc.489G>ASubstitution - coding silent
C19orf47ENSG00000160392ENST00000582783p.Q230Qc.690G>ASubstitution - coding silent
LGALS4ENSG00000171747ENST00000307751p.K44Rc.131A>GSubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.Y1212Nc.3634T>ASubstitution - Missense
NTRK2ENSG00000148053ENST00000304053p.K551Rc.1652A>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.G1152Ec.3455G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.T1932_S1933insTc.5793_5794insACCInsertion - In frame
COG6ENSG00000133103ENST00000416691p.?c.1417-8A>CUnknown
MRPS31ENSG00000102738ENST00000323563p.?c.440+4A>CUnknown
FAM186BENSG00000135436ENST00000544141p.M753Tc.2258T>CSubstitution - Missense
ENST00000266505_v70p.G491Gc.1473T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.K316Ec.946A>GSubstitution - Missense
ZDHHC5ENSG00000156599ENST00000287169p.V181Ic.541G>ASubstitution - Missense
CPSF7ENSG00000149532ENST00000340437p.P261Pc.783C>TSubstitution - coding silent
OR52B6ENSG00000187747ENST00000345043p.L330Fc.988C>TSubstitution - Missense
OR51I1ENSG00000167359ENST00000380211p.Y134Cc.401A>GSubstitution - Missense
ENST00000345013p.L43Ic.127C>ASubstitution - Missense
ENST00000345013p.I220Mc.660T>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.R1225Rc.3675G>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.R1159Rc.3477G>ASubstitution - coding silent
TSPAN14ENSG00000108219ENST00000372157p.T24Tc.72C>GSubstitution - coding silent
ENST00000422321p.A72Ac.216A>GSubstitution - coding silent
KIAA1598ENSG00000187164ENST00000392903p.P535Pc.1605C>ASubstitution - coding silent
ENST00000368577p.P83Pc.249C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.Q1877Qc.5631G>ASubstitution - coding silent
CRIP3ENSG00000146215ENST00000274990p.L180Lc.540G>CSubstitution - coding silent
VPS52ENSG00000223501ENST00000445902p.P336Tc.1006C>ASubstitution - Missense
RPS18ENSG00000231500ENST00000439602p.?c.103-7C>GUnknown
TNXBENSG00000168477ENST00000375247p.R799Qc.2396G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R847Qc.2540G>ASubstitution - Missense
DIMT1ENSG00000086189ENST00000199320p.?c.446+4T>GUnknown
NM_018695.1p.A1145Vc.3434C>TSubstitution - Missense
LY6G6DENSG00000244355ENST00000375825p.V85Vc.255G>ASubstitution - coding silent
HSPA1LENSG00000204390ENST00000375654p.D34Vc.101A>TSubstitution - Missense
PALLDENSG00000129116ENST00000261509p.?c.2100+8T>CUnknown
PALLDENSG00000129116ENST00000335742p.?c.1626+8T>CUnknown
CLCN3ENSG00000109572ENST00000347613p.E852Dc.2556A>CSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.I448Ic.1344C>TSubstitution - coding silent
TP63ENSG00000073282ENST00000264731p.E636Qc.1906G>CSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.R1197Qc.3590G>ASubstitution - Missense
MPDZENSG00000107186ENST00000541718p.Y1117Yc.3351C>TSubstitution - coding silent
NM_003829.1p.Y1117Yc.3351C>TSubstitution - coding silent
ENGENSG00000106991ENST00000344849p.H108Yc.322C>TSubstitution - Missense
ENGENSG00000106991ENST00000344849p.L107Lc.321G>TSubstitution - coding silent
DNM1ENSG00000106976ENST00000372923p.K142Ec.424A>GSubstitution - Missense
OR1L4ENSG00000136939ENST00000259466p.I121Ic.363C>TSubstitution - coding silent
OR1L4ENSG00000136939ENST00000259466p.L155Lc.465A>GSubstitution - coding silent
SLAENSG00000155926ENST00000427060p.S286Sc.858C>TSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.H1080Yc.3238C>TSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.N2344delNc.7030_7032delAACDeletion - In frame
PPIGENSG00000138398ENST00000260970p.R85Rc.255A>GSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.G348fs*5c.1043delGDeletion - Frameshift
ELFN1ENSG00000225968ENST00000424383p.S74Sc.222C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
RBM33ENSG00000184863ENST00000401878p.P1014Pc.3042G>ASubstitution - coding silent
NOM1ENSG00000146909ENST00000275820p.N464Kc.1392C>GSubstitution - Missense
OCIAD1ENSG00000109180ENST00000264312p.P125Rc.374C>GSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.?c.1590+5G>TUnknown
NBASENSG00000151779ENST00000281513p.E1940Kc.5818G>ASubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.G211Sc.631G>ASubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.F412Fc.1236C>TSubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.I549Ic.1647C>ASubstitution - coding silent
ZNF225ENSG00000256294ENST00000262894p.K603Rc.1808A>GSubstitution - Missense
ANKLE1ENSG00000160117ENST00000404261p.H541Qc.1623C>ASubstitution - Missense
ENST00000291449p.H501Qc.1503C>ASubstitution - Missense
FAM129CENSG00000167483ENST00000335393p.R225Wc.673C>TSubstitution - Missense
FAM129CENSG00000167483ENST00000332386p.R225Wc.673C>TSubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.?c.1048+4_1048+25del22Unknown
OR10H3ENSG00000171936ENST00000305892p.R295fs*2c.883_892del10Deletion - Frameshift
LPHN1ENSG00000072071ENST00000340736p.R671Hc.2012G>ASubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
NLGN4YENSG00000165246ENST00000382868p.E181Ec.543A>GSubstitution - coding silent
ZNF441ENSG00000197044ENST00000357901p.N136Nc.408C>TSubstitution - coding silent
PCSK5ENSG00000099139ENST00000424854p.G825Ec.2474G>ASubstitution - Missense
DNM1ENSG00000106976ENST00000486160p.K142Ec.424A>GSubstitution - Missense
PLECENSG00000178209ENST00000356346p.G3458Gc.10374C>TSubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356253p.R197Rc.591C>TSubstitution - coding silent
ENST00000328843_v70p.I587Mc.1761T>GSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.H843Rc.2528A>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.G931Gc.2793C>ASubstitution - coding silent
ENST00000356441p.L10Lc.30C>GSubstitution - coding silent
MRS2ENSG00000124532ENST00000443868p.G400Ac.1199G>CSubstitution - Missense
ENST00000377993p.R153*c.457C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000448038p.T1481Ic.4442C>TSubstitution - Missense
DTNBP1ENSG00000047579ENST00000355917p.P105Sc.313C>TSubstitution - Missense
QKIENSG00000112531ENST00000453779p.P279Pc.837C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.?c.22138-8C>TUnknown
SYNE1ENSG00000131018ENST00000448038p.?c.21649-10C>GUnknown
SYNE1ENSG00000131018ENST00000341594p.?c.20698-10C>GUnknown
ERBB2IPENSG00000112851ENST00000380943p.A1145Vc.3434C>TSubstitution - Missense
ERBB2IPENSG00000112851ENST00000284037p.A1145Vc.3434C>TSubstitution - Missense
AIM1ENSG00000112297ENST00000535438p.M63Tc.188T>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000430702p.P48Rc.143C>GSubstitution - Missense
GRAMD3ENSG00000155324ENST00000542322p.P234Tc.700C>ASubstitution - Missense
PRRC1ENSG00000164244ENST00000512635p.P168Pc.504A>GSubstitution - coding silent
CDKL3ENSG00000006837ENST00000521118p.E2Gc.5A>GSubstitution - Missense
ENST00000499676_v70p.T308Tc.924C>TSubstitution - coding silent
EVC2ENSG00000173040ENST00000344938p.K943Nc.2829G>CSubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.A265Tc.793G>ASubstitution - Missense
SLITRK5ENSG00000165300ENST00000400028p.C641Sc.1921T>ASubstitution - Missense
ACTN1ENSG00000072110ENST00000394419p.Q747*c.2239C>TSubstitution - Nonsense
ZCCHC14ENSG00000140948ENST00000561928p.P356Ac.1066C>GSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.?c.205+4_205+5insAUnknown
GATA1ENSG00000102145ENST00000376665p.E2fs*37c.5_7AGT>CComplex - frameshift
SCN1AENSG00000144285ENST00000423058p.G348fs*5c.1043delGDeletion - Frameshift
PROM1ENSG00000007062ENST00000543373p.I439Ic.1317C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000357272p.F2075Fc.6225C>TSubstitution - coding silent
EOGTENSG00000163378ENST00000383701p.F475Fc.1425T>CSubstitution - coding silent
EOGTENSG00000163378ENST00000383701p.R200Hc.599G>ASubstitution - Missense
ENST00000421660p.I1226Ic.3678C>TSubstitution - coding silent
TP63ENSG00000073282ENST00000354600p.E542Qc.1624G>CSubstitution - Missense
CLASP2ENSG00000163539ENST00000480013p.K1085Kc.3255A>GSubstitution - coding silent
HADHBENSG00000138029ENST00000545822p.G128Sc.382G>ASubstitution - Missense
EDARENSG00000135960ENST00000409271p.G258Ac.773G>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.?c.3806-5C>GUnknown
CACNA1IENSG00000100346ENST00000336649p.?c.4212+1G>AUnknown
CACNA1IENSG00000100346ENST00000400164p.?c.4089+1G>AUnknown
P2RX6ENSG00000099957ENST00000413302p.S438Sc.1314C>TSubstitution - coding silent
ID1ENSG00000125968ENST00000376105p.C17Yc.50G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000300971p.R225Wc.673C>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.S871Sc.2613C>TSubstitution - coding silent
CCDC40ENSG00000141519ENST00000269318p.T146Sc.437C>GSubstitution - Missense
ASPSCR1ENSG00000169696ENST00000580534p.?c.1319+3A>TUnknown
UNC13CENSG00000137766ENST00000545554p.K1303Nc.3909G>CSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.A1027Ac.3081T>CSubstitution - coding silent
NFIAENSG00000162599ENST00000371191p.S243*c.728C>GSubstitution - Nonsense
MIER1ENSG00000198160ENST00000357692p.S403Ic.1208G>TSubstitution - Missense
MIER1ENSG00000198160ENST00000371014p.S439Ic.1316G>TSubstitution - Missense
LDLRAD1ENSG00000203985ENST00000420619p.T64Sc.191C>GSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.?c.697+7T>CUnknown
USH2AENSG00000042781ENST00000366943p.N1750Sc.5249A>GSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.Y4318Fc.12953A>TSubstitution - Missense
CD244ENSG00000122223ENST00000368032p.A52Vc.155C>TSubstitution - Missense
ATAD3AENSG00000197785ENST00000339113p.S275Fc.824C>TSubstitution - Missense
SARSENSG00000031698ENST00000369923p.D76Dc.228T>CSubstitution - coding silent
ENST00000505256p.?c.4164+9G>CUnknown
PHKBENSG00000102893ENST00000566044p.T695Tc.2085C>TSubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.G1626Gc.4878T>ASubstitution - coding silent
TRIM65ENSG00000141569ENST00000269383p.Q150*c.448C>TSubstitution - Nonsense
GPATCH1ENSG00000076650ENST00000170564p.S464fs*24c.1385_1397del13Deletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.V2203Mc.6607G>ASubstitution - Missense
CLSTN1ENSG00000171603ENST00000377298p.H151Lc.452A>TSubstitution - Missense
LDLRAD1ENSG00000203985ENST00000371360p.T103Sc.308C>GSubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.E644Gc.1931A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R1204Hc.3611G>ASubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.I314Tc.941T>CSubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.A764Ac.2292T>ASubstitution - coding silent
CITENSG00000122966ENST00000392521p.R916Cc.2746C>TSubstitution - Missense
PDCD11ENSG00000148843ENST00000369797p.V235Ac.704T>CSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.N1285fs*10c.3851delADeletion - Frameshift
ENST00000256007p.N1285fs*10c.3851delADeletion - Frameshift
MSANTD2ENSG00000120458ENST00000374979p.E428Ec.1284A>GSubstitution - coding silent
ENST00000414315p.M1Kc.2T>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.A965Ac.2895T>CSubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.R1482Qc.4445G>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G1096Rc.3286G>CSubstitution - Missense
CDC20BENSG00000164287ENST00000296733p.A59Ac.177G>CSubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.?c.53+6C>TUnknown
ITGB6ENSG00000115221ENST00000283249p.Q755Rc.2264A>GSubstitution - Missense
CREB3L3ENSG00000060566ENST00000078445p.G121Rc.361G>ASubstitution - Missense
FAM211BENSG00000178026ENST00000318753p.R265Wc.793C>TSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.V619Lc.1855G>CSubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.L936Lc.2808C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000339907p.E1077delEc.3229_3231delGAADeletion - In frame
ENST00000225973p.?c.301-3T>GUnknown
TBC1D31ENSG00000156787ENST00000287380p.P675Sc.2023C>TSubstitution - Missense
BTBD9ENSG00000183826ENST00000403056p.E171Ec.513A>GSubstitution - coding silent
ENST00000344519_v61p.T522Sc.1565C>GSubstitution - Missense
RAC1ENSG00000136238ENST00000356142p.I21Mc.63C>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.L3291Pc.9872T>CSubstitution - Missense
ALPK1ENSG00000073331ENST00000458497p.T777Ac.2329A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.?c.21649-10C>GUnknown
PRKAR1AENSG00000108946ENST00000358598p.I226Ic.678C>TSubstitution - coding silent
SULT1C2ENSG00000198203ENST00000326853p.F137Lc.411C>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.P1700Lc.5099C>TSubstitution - Missense
SLC4A7ENSG00000033867ENST00000455077p.T94Ac.280A>GSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.P495Lc.1484C>TSubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.A791Ac.2373C>GSubstitution - coding silent
NUGGCENSG00000189233ENST00000413272p.P791Sc.2371C>TSubstitution - Missense
ENST00000312881p.A115Vc.344C>TSubstitution - Missense
ENST00000301415p.E1213Vc.3638A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10404Rc.31212C>ASubstitution - Missense
ARHGAP27ENSG00000159314ENST00000290470p.G230Rc.688G>ASubstitution - Missense
PDE1AENSG00000115252ENST00000435564p.E208*c.622G>TSubstitution - Nonsense
CHGAENSG00000100604ENST00000216492p.E116Kc.346G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.R101Lc.302G>TSubstitution - Missense
RGS8ENSG00000135824ENST00000483095p.F85Lc.255C>GSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R1482Qc.4445G>ASubstitution - Missense
RHOBTB1ENSG00000072422ENST00000357917p.E462Kc.1384G>ASubstitution - Missense
C11orf84ENSG00000168005ENST00000294244p.Q340Kc.1018C>ASubstitution - Missense
PRF1ENSG00000180644ENST00000373209p.G413Gc.1239C>TSubstitution - coding silent
PRB4ENSG00000230657ENST00000279575p.?c.64+3A>GUnknown
BRCA2ENSG00000139618ENST00000380152p.R2318*c.6952C>TSubstitution - Nonsense
RASAL1ENSG00000111344ENST00000261729p.G245Rc.733G>ASubstitution - Missense
BORAENSG00000136122ENST00000390667p.?c.871+5G>CUnknown
SYNE1ENSG00000131018ENST00000265368p.T1474Ic.4421C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.E1399Kc.4195G>ASubstitution - Missense
ENST00000545858p.M40Kc.119T>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.I2611Vc.7831A>GSubstitution - Missense
C2ENSG00000166278ENST00000299367p.N312Kc.936C>GSubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.I24Tc.71T>CSubstitution - Missense
SLFN12LENSG00000205045ENST00000449046p.I108Tc.323T>CSubstitution - Missense
SLFN12LENSG00000205045ENST00000361112p.I106Tc.317T>CSubstitution - Missense
TRIM4ENSG00000146833ENST00000355947p.V448Fc.1342G>TSubstitution - Missense
LIX1ENSG00000145721ENST00000274382p.?c.561+10T>CUnknown
DMDENSG00000198947ENST00000378677p.L3291Pc.9872T>CSubstitution - Missense
ENST00000326929p.?c.1311+7A>GUnknown
TRAK1ENSG00000182606ENST00000341421p.S596Sc.1788A>TSubstitution - coding silent
LIPIENSG00000188992ENST00000344577p.R199Kc.596G>ASubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.L244Fc.730C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3744Lc.11231C>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.T645Tc.1935G>ASubstitution - coding silent
SPATA33ENSG00000167523ENST00000301031p.V99Vc.297C>TSubstitution - coding silent
OSBPL6ENSG00000079156ENST00000392505p.R468Rc.1404A>GSubstitution - coding silent
ENST00000356127p.V24145Vc.72435C>ASubstitution - coding silent
LTN1ENSG00000198862ENST00000361371p.L1185Vc.3553C>GSubstitution - Missense
KRTAP26-1ENSG00000197683ENST00000360542p.S8Lc.23C>TSubstitution - Missense
IQCF2ENSG00000184345ENST00000333127p.R60Lc.179G>TSubstitution - Missense
SIK1ENSG00000142178ENST00000270162p.A497Sc.1489G>TSubstitution - Missense
SH3BGRENSG00000185437ENST00000333634p.?c.234+9C>TUnknown
PARM1ENSG00000169116ENST00000307428p.P13Sc.37C>TSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.T702Tc.2106C>TSubstitution - coding silent
SEBOX,VTNENSG00000109072ENST00000431468p.?c.109+1G>AUnknown
CASS4ENSG00000087589ENST00000360314p.I197Kc.590T>ASubstitution - Missense
TRIM14ENSG00000106785ENST00000375098p.G113Ec.338G>ASubstitution - Missense
KLK4ENSG00000167749ENST00000324041p.D206Dc.618C>TSubstitution - coding silent
PCSK2ENSG00000125851ENST00000262545p.R605Wc.1813C>TSubstitution - Missense
CYP2J2ENSG00000134716ENST00000371204p.I120Fc.358A>TSubstitution - Missense
LEPRENSG00000116678ENST00000371060p.A125Ac.375A>CSubstitution - coding silent
MIER1ENSG00000198160ENST00000401041p.S439Ic.1316G>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.S3483Sc.10449A>CSubstitution - coding silent
ANGPTL5ENSG00000187151ENST00000334289p.N366fs*8c.1092_1093insAInsertion - Frameshift
ACTN1ENSG00000072110ENST00000193403p.Q747*c.2239C>TSubstitution - Nonsense
ENST00000391979_v68p.H64Yc.190C>TSubstitution - Missense
PHGDHENSG00000092621ENST00000369409p.W506*c.1518G>ASubstitution - Nonsense
CD244ENSG00000122223ENST00000368034p.A52Vc.155C>TSubstitution - Missense
RSC1A1ENSG00000215695ENST00000345034p.T6Tc.18T>GSubstitution - coding silent
DUSP27ENSG00000198842ENST00000361200p.V768Vc.2304C>GSubstitution - coding silent
ZMYM6ENSG00000163867ENST00000357182p.N233fs*46c.698_701delACTGDeletion - Frameshift
AHNAK2ENSG00000185567ENST00000333244p.E1194Ec.3582G>ASubstitution - coding silent
ENSG00000180574ENST00000322446p.I140Vc.418A>GSubstitution - Missense
DCTENSG00000080166ENST00000377028p.L331Fc.991C>TSubstitution - Missense
KIAA1456ENSG00000250305ENST00000524591p.D383Nc.1147G>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.A49Tc.145G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.E474Kc.1420G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.T1544Ic.4631C>TSubstitution - Missense
ENGENSG00000106991ENST00000373203p.H108Yc.322C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.E474Kc.1420G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R161Gc.481A>GSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.P540Pc.1620G>ASubstitution - coding silent
KIF9ENSG00000088727ENST00000265529p.S559fs*12c.1675_1676insTInsertion - Frameshift
USP37ENSG00000135913ENST00000258399p.R420Kc.1259G>ASubstitution - Missense
CAB39ENSG00000135932ENST00000258418p.S163Sc.489G>ASubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.D1741Nc.5221G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.K1298Kc.3894A>GSubstitution - coding silent
ZNF860ENSG00000197385ENST00000360311p.W116Rc.346T>CSubstitution - Missense
ENST00000405167p.F4387Yc.13160T>ASubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.F151Lc.451T>CSubstitution - Missense
RFPL1ENSG00000128250ENST00000354373p.L138fs*72c.411delCDeletion - Frameshift
LAMA5ENSG00000130702ENST00000252999p.Q1456Qc.4368G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S1018Cc.3053C>GSubstitution - Missense
ENST00000356127p.V24145Ac.72434T>CSubstitution - Missense
RRP1ENSG00000160214ENST00000497547p.?c.360+10C>TUnknown
C16orf62ENSG00000103544ENST00000438132p.N996Kc.2988C>GSubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.I506Ic.1518C>TSubstitution - coding silent
PRB1ENSG00000251655ENST00000500254p.I32Vc.94A>GSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.G1341Wc.4021G>TSubstitution - Missense
ZP4ENSG00000116996ENST00000366570p.S221Tc.662G>CSubstitution - Missense
OLR1ENSG00000173391ENST00000309539p.L173Fc.519G>CSubstitution - Missense
NUDT8ENSG00000167799ENST00000376693p.W100Lc.299G>TSubstitution - Missense
SU_OBSCN.1p.L3686Lc.11056C>TSubstitution - coding silent
WNT3AENSG00000154342ENST00000284523p.R173Wc.517C>TSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.S355Lc.1064C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.E474Kc.1420G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.A1199Tc.3595G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.T357Tc.1071C>TSubstitution - coding silent
SORCS2ENSG00000184985ENST00000329016p.A93Tc.277G>ASubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T523Sc.1568C>GSubstitution - Missense
ENGENSG00000106991ENST00000373203p.L107Lc.321G>TSubstitution - coding silent
DCBLD2ENSG00000057019ENST00000326857p.Q709Qc.2127G>ASubstitution - coding silent
SRRM1ENSG00000133226ENST00000447431p.?c.234+9A>GUnknown
CDK11BENSG00000248333ENST00000317673p.I404Ic.1212C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.G348fs*5c.1043delGDeletion - Frameshift
SRP72ENSG00000174780ENST00000342756p.K515Tc.1544A>CSubstitution - Missense
ZKSCAN8ENSG00000198315ENST00000330236p.R263Rc.789G>ASubstitution - coding silent
GALNT10ENSG00000164574ENST00000425427p.V232Gc.695T>GSubstitution - Missense
ZNF568ENSG00000198453ENST00000333987p.S204Nc.611G>ASubstitution - Missense
C6orf52ENSG00000137434ENST00000259983p.N133Yc.397A>TSubstitution - Missense
TFDP2ENSG00000114126ENST00000489671p.T368Tc.1104C>TSubstitution - coding silent
SULT1C2ENSG00000198203ENST00000251481p.F126Lc.378C>ASubstitution - Missense
DYSFENSG00000135636ENST00000258104p.T1036Pc.3106A>CSubstitution - Missense
DPYSL5ENSG00000157851ENST00000288699p.?c.714+3A>TUnknown
DNAH1ENSG00000114841ENST00000420323p.R1087Cc.3259C>TSubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.V762Lc.2284G>CSubstitution - Missense
CELF4ENSG00000101489ENST00000361795p.A260Ac.780C>TSubstitution - coding silent
ABCG1ENSG00000160179ENST00000398457p.A228Ac.684C>GSubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.P967Pc.2901G>ASubstitution - coding silent
UBAP2ENSG00000137073ENST00000379238p.?c.680-4A>GUnknown
NUGGCENSG00000189233ENST00000341513p.P791Sc.2371C>TSubstitution - Missense
FAM3DENSG00000198643ENST00000358781p.S168Fc.503C>TSubstitution - Missense
ZNF624ENSG00000197566ENST00000311331p.L90Lc.270G>TSubstitution - coding silent
NM_012216.2p.E537Kc.1609G>ASubstitution - Missense
XIAPENSG00000101966ENST00000434753p.Q418Qc.1254G>ASubstitution - coding silent
LCTLENSG00000188501ENST00000341509p.S47Cc.139A>TSubstitution - Missense
NFIAENSG00000162599ENST00000485903p.S220*c.659C>GSubstitution - Nonsense
USP24ENSG00000162402ENST00000294383p.S506Lc.1517C>TSubstitution - Missense
BCAT1ENSG00000060982ENST00000261192p.E61Ac.182A>CSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.R2390Sc.7170A>CSubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.L613Vc.1837C>GSubstitution - Missense
SLC25A24ENSG00000085491ENST00000370041p.W175Sc.524G>CSubstitution - Missense
SV2AENSG00000159164ENST00000369146p.D17Ec.51C>ASubstitution - Missense
RFX5ENSG00000143390ENST00000368870p.?c.473+6C>TUnknown
AMER2ENSG00000165566ENST00000515384p.E336Dc.1008A>TSubstitution - Missense
ALDH3B2ENSG00000132746ENST00000530069p.N229Dc.685A>GSubstitution - Missense
NOC4LENSG00000184967ENST00000330579p.R328Wc.982C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.L3816Lc.11446C>TSubstitution - coding silent
NM_005830.2p.?c.440+4A>CUnknown
ENSG00000180574ENST00000538173p.I140Vc.418A>GSubstitution - Missense
RAP2AENSG00000125249ENST00000245304p.F90Fc.270C>TSubstitution - coding silent
ENST00000303854p.D296Nc.886G>ASubstitution - Missense
BCL2L12ENSG00000126453ENST00000246785p.F246Fc.738C>TSubstitution - coding silent
CDC20BENSG00000164287ENST00000334206p.A59Ac.177G>CSubstitution - coding silent
MYT1LENSG00000186487ENST00000428368p.N177Nc.531T>CSubstitution - coding silent
RTCAENSG00000137996ENST00000260563p.?c.454-8T>AUnknown
LEPRENSG00000116678ENST00000371059p.A125Ac.375A>CSubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.R1765Cc.5293C>TSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.S149Sc.447T>GSubstitution - coding silent
TMTC3ENSG00000139324ENST00000266712p.R544*c.1630C>TSubstitution - Nonsense
COL11A1ENSG00000060718ENST00000370096p.R1707Wc.5119C>TSubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.?c.1672-1G>AUnknown
SULT2B1ENSG00000088002ENST00000201586p.R298Hc.893G>ASubstitution - Missense
WNT3AENSG00000154342ENST00000366753p.R173Wc.517C>TSubstitution - Missense
DNM1ENSG00000106976ENST00000341179p.K142Ec.424A>GSubstitution - Missense
CYP21A2ENSG00000231852ENST00000418967p.L25Lc.75C>ASubstitution - coding silent
GARNL3ENSG00000136895ENST00000373387p.P637Sc.1909C>TSubstitution - Missense
C8orf74ENSG00000171060ENST00000304519p.L129Lc.387G>ASubstitution - coding silent
HIST1H2BNENSG00000233822ENST00000449538p.L107Lc.319C>TSubstitution - coding silent
NDUFAF7ENSG00000003509ENST00000002125p.R234Qc.701G>ASubstitution - Missense
LRP2BPENSG00000109771ENST00000328559p.A135Dc.404C>ASubstitution - Missense
PRRC1ENSG00000164244ENST00000442138p.P168Pc.504A>GSubstitution - coding silent
HHATLENSG00000010282ENST00000310417p.S180_S189del10c.538_567del30Deletion - In frame
RARRES1ENSG00000118849ENST00000237696p.?c.735+9T>CUnknown
ROCK2ENSG00000134318ENST00000315872p.E639Dc.1917G>CSubstitution - Missense
APCENSG00000134982ENST00000457016p.N862Kc.2586C>GSubstitution - Missense
PDCD6IPENSG00000170248ENST00000307296p.Q154*c.460C>TSubstitution - Nonsense
OR5H6ENSG00000230301ENST00000383696p.P281Pc.843G>ASubstitution - coding silent
LIPIENSG00000188992ENST00000344577p.R199*c.595A>TSubstitution - Nonsense
NEFHENSG00000100285ENST00000310624p.K749Kc.2247G>ASubstitution - coding silent
PAK7ENSG00000101349ENST00000378429p.M338Lc.1012A>CSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.D3150Dc.9450T>CSubstitution - coding silent
HIST1H2ADENSG00000196866ENST00000341023p.P81Lc.242C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.N376Nc.1128C>TSubstitution - coding silent
DSG4ENSG00000175065ENST00000359747p.G400fs*5c.1198delGDeletion - Frameshift
DSG4ENSG00000175065ENST00000308128p.G400fs*5c.1198delGDeletion - Frameshift
WWP1ENSG00000123124ENST00000517970p.S416Tc.1246T>ASubstitution - Missense
TSKSENSG00000126467ENST00000246801p.T130Mc.389C>TSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.P631Pc.1893C>TSubstitution - coding silent
ENST00000331986p.S1063Sc.3189C>TSubstitution - coding silent
OR2T34ENSG00000183310ENST00000328782p.C208Fc.623G>TSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.R391Rc.1173C>TSubstitution - coding silent
PCSK9ENSG00000169174ENST00000302118p.G263Sc.787G>ASubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.R362Qc.1085G>ASubstitution - Missense
DHRS3ENSG00000162496ENST00000376223p.T154Tc.462C>ASubstitution - coding silent
SORCS3ENSG00000156395ENST00000369701p.?c.2261+8G>CUnknown
BRCA2ENSG00000139618ENST00000544455p.R2318*c.6952C>TSubstitution - Nonsense
PABPN1ENSG00000100836ENST00000216727p.P262Pc.786A>GSubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.T241Nc.722C>ASubstitution - Missense
POLGENSG00000140521ENST00000268124p.H734Rc.2201A>GSubstitution - Missense
RGRENSG00000148604ENST00000372092p.W119Rc.355T>CSubstitution - Missense
CLDND1ENSG00000080822ENST00000437922p.R103Wc.307C>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.T349Tc.1047C>TSubstitution - coding silent
ARID5BENSG00000150347ENST00000309334p.L773Vc.2317C>GSubstitution - Missense
ITGA7ENSG00000135424ENST00000452168p.P991Lc.2972C>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.H1080Yc.3238C>TSubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.?c.1048+4_1048+25del22Unknown
FAM193BENSG00000146067ENST00000443375p.G352Rc.1054G>CSubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.S351Lc.1052C>TSubstitution - Missense
ABCA1ENSG00000165029ENST00000423487p.Q188Kc.562C>ASubstitution - Missense
C8orf76ENSG00000189376ENST00000276704p.M110Vc.328A>GSubstitution - Missense
ASIC5ENSG00000256394ENST00000537611p.L316Lc.948G>ASubstitution - coding silent
SCAPENSG00000114650ENST00000265565p.L109Fc.325C>TSubstitution - Missense
NLGN4YENSG00000165246ENST00000297967p.E181Ec.543A>GSubstitution - coding silent
PCOLCEENSG00000106333ENST00000223061p.N60Kc.180T>ASubstitution - Missense
GIGYF2ENSG00000204120ENST00000373563p.R252Cc.754C>TSubstitution - Missense
SULT1C2ENSG00000198203ENST00000251481p.L127Ic.379C>ASubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.Y877Cc.2630A>GSubstitution - Missense
ENST00000354247p.R240Hc.719G>ASubstitution - Missense
ST8SIA3ENSG00000177511ENST00000324000p.?c.179+1G>CUnknown
PARP10ENSG00000178685ENST00000313028p.D70Yc.208G>TSubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.L612Ic.1834C>ASubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.V499Ic.1495G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.?c.3709+6G>CUnknown
PRKACGENSG00000165059ENST00000377276p.V151Vc.453C>TSubstitution - coding silent
CNBD1ENSG00000176571ENST00000518476p.E422fs*3c.1263_1264insAInsertion - Frameshift
CNBD1ENSG00000176571ENST00000518476p.E422fs*3c.1263_1264insAInsertion - Frameshift
KDM4BENSG00000127663ENST00000159111p.A360Ec.1079C>ASubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.A39Ac.117T>GSubstitution - coding silent
PIK3R3ENSG00000117461ENST00000372006p.L421Pc.1262T>CSubstitution - Missense
MRPL37ENSG00000116221ENST00000360840p.G14Gc.42C>TSubstitution - coding silent
XM_371254.3p.S475Lc.1424C>TSubstitution - Missense
ENSG00000273259ENST00000553947p.N350Nc.1050C>TSubstitution - coding silent
RFX7ENSG00000181827ENST00000423270p.Y831Yc.2493T>CSubstitution - coding silent
SARSENSG00000031698ENST00000234677p.D76Dc.228T>CSubstitution - coding silent
PIP4K2AENSG00000150867ENST00000376573p.A120Ac.360A>GSubstitution - coding silent
MADDENSG00000110514ENST00000311027p.S700Cc.2099C>GSubstitution - Missense
HNRNPA1ENSG00000135486ENST00000340913p.G257_G259delGPGc.769_777delGGCCCTGGTDeletion - In frame
LCORENSG00000196233ENST00000371103p.Q118Rc.353A>GSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.G1858Rc.5572G>ASubstitution - Missense
ADCK3ENSG00000163050ENST00000366779p.L472Lc.1414C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T1474Ic.4421C>TSubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.G75Gc.225C>TSubstitution - coding silent
GIGYF2ENSG00000204120ENST00000452341p.R83Cc.247C>TSubstitution - Missense
TTC12ENSG00000149292ENST00000314756p.L613Vc.1837C>GSubstitution - Missense
PLCZ1ENSG00000139151ENST00000541695p.G354Gc.1062T>CSubstitution - coding silent
UBE4BENSG00000130939ENST00000377157p.M442Vc.1324A>GSubstitution - Missense
DGKHENSG00000102780ENST00000379274p.I602Mc.1806C>GSubstitution - Missense
CD244ENSG00000122223ENST00000368032p.A52Sc.154G>TSubstitution - Missense
SLAENSG00000155926ENST00000338087p.S246Sc.738C>TSubstitution - coding silent
SUN2ENSG00000100242ENST00000411587p.D247Gc.740A>GSubstitution - Missense
UHRF1BP1ENSG00000065060ENST00000192788p.P1404Rc.4211C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
SULF2ENSG00000196562ENST00000359930p.F412Yc.1235T>ASubstitution - Missense
ENST00000378129p.T426Tc.1278T>CSubstitution - coding silent
ENST00000331116p.K21Kc.63G>ASubstitution - coding silent
ADAM19ENSG00000135074ENST00000257527p.P315Rc.944C>GSubstitution - Missense
MFSD10ENSG00000109736ENST00000355443p.R259Cc.775C>TSubstitution - Missense
PPICENSG00000168938ENST00000306442p.T66Ic.197C>TSubstitution - Missense
SLC12A2ENSG00000064651ENST00000262461p.I603Vc.1807A>GSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.I2428Ic.7284C>TSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.S1973Sc.5919C>TSubstitution - coding silent
FOXP4ENSG00000137166ENST00000373063p.S7Sc.21G>ASubstitution - coding silent
ZC3H6ENSG00000188177ENST00000409871p.P481Sc.1441C>TSubstitution - Missense
ENST00000396788p.T879Ac.2635A>GSubstitution - Missense
ZNF784ENSG00000179922ENST00000325351p.A293Vc.878C>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.E832Ac.2495A>CSubstitution - Missense
NRG1ENSG00000157168ENST00000521670p.?c.632+2T>AUnknown
MYH15ENSG00000144821ENST00000273353p.R953Wc.2857C>TSubstitution - Missense
ENST00000242365_v65p.S530Sc.1590G>ASubstitution - coding silent
SEMA3GENSG00000010319ENST00000231721p.R268Lc.803G>TSubstitution - Missense
ASPSCR1ENSG00000169696ENST00000306729p.?c.1757+3A>TUnknown
TSKSENSG00000126467ENST00000246801p.R361Kc.1082G>ASubstitution - Missense
MID2ENSG00000080561ENST00000262843p.E557Kc.1669G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P6271Lc.18812C>TSubstitution - Missense
NFIAENSG00000162599ENST00000371189p.S265*c.794C>GSubstitution - Nonsense
SOX5ENSG00000134532ENST00000451604p.T210Tc.630C>ASubstitution - coding silent
SLC25A24ENSG00000085491ENST00000565488p.W194Sc.581G>CSubstitution - Missense
IGSF22ENSG00000179057ENST00000513874p.I506Ic.1518C>TSubstitution - coding silent
SLC5A12ENSG00000148942ENST00000396005p.T447Nc.1340C>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.E797*c.2389G>TSubstitution - Nonsense
FCGR3BENSG00000162747ENST00000294800p.E54Kc.160G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.E1109Ec.3327G>ASubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.?c.3702+10C>GUnknown
KIAA1522ENSG00000162522ENST00000373480p.R129Hc.386G>ASubstitution - Missense
FAM160A2ENSG00000051009ENST00000265978p.R584Cc.1750C>TSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.H183Hc.549C>TSubstitution - coding silent
AGBL1ENSG00000166748ENST00000389298p.V209Vc.627G>TSubstitution - coding silent
HBBENSG00000244734ENST00000335295p.S10Fc.29C>TSubstitution - Missense
MFAP3LENSG00000198948ENST00000361618p.T137Tc.411G>ASubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
IFNL2ENSG00000183709ENST00000331982p.R161Wc.481C>TSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.V662Ec.1985T>ASubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.P540Pc.1620G>ASubstitution - coding silent
ALDH8A1ENSG00000118514ENST00000265605p.T140Tc.420G>ASubstitution - coding silent
OR2A4ENSG00000180658ENST00000315453p.A56Tc.166G>ASubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.G255Rc.763G>ASubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.D1188Nc.3562G>ASubstitution - Missense
PPARAENSG00000186951ENST00000396000p.D140Dc.420C>TSubstitution - coding silent
FAM161AENSG00000170264ENST00000307507p.H355Rc.1064A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.?c.23089-8C>TUnknown
CSMD1ENSG00000183117ENST00000537824p.T444Tc.1332C>TSubstitution - coding silent
ENST00000405167p.P3744Lc.11231C>TSubstitution - Missense
LMAN1ENSG00000074695ENST00000251047p.T432Ac.1294A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V24147Ac.72440T>CSubstitution - Missense
RNF144BENSG00000137393ENST00000259939p.R167Rc.501A>GSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.G3450Gc.10350C>TSubstitution - coding silent
CALCRENSG00000004948ENST00000359558p.Y59Yc.177C>TSubstitution - coding silent
CALCRENSG00000004948ENST00000394441p.Y41Yc.123C>TSubstitution - coding silent
SLC37A1ENSG00000160190ENST00000352133p.?c.1521+8G>AUnknown
ACTR8ENSG00000113812ENST00000231909p.P100Pc.300C>TSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.C998Rc.2992T>CSubstitution - Missense
KDM4BENSG00000127663ENST00000381759p.A360Ec.1079C>ASubstitution - Missense
ENGASEENSG00000167280ENST00000579016p.R73Rc.219A>GSubstitution - coding silent
ZNF556ENSG00000172000ENST00000307635p.G311Gc.933G>ASubstitution - coding silent
GPR19ENSG00000183150ENST00000332427p.P197Lc.590C>TSubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.T215Ac.643A>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.L43Lc.127C>TSubstitution - coding silent
TRIM29ENSG00000137699ENST00000341846p.S538Sc.1614C>TSubstitution - coding silent
EXPH5ENSG00000110723ENST00000265843p.Q1700Rc.5099A>GSubstitution - Missense
FGF23ENSG00000118972ENST00000237837p.V83Vc.249G>ASubstitution - coding silent
CSF3RENSG00000119535ENST00000373103p.D40Nc.118G>ASubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.K117Kc.351G>ASubstitution - coding silent
CPEB1ENSG00000214575ENST00000398591p.T5Ac.13A>GSubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.I406Ic.1218C>TSubstitution - coding silent
RNLSENSG00000184719ENST00000371947p.I221Mc.663A>GSubstitution - Missense
KCNE1ENSG00000180509ENST00000399284p.S37Sc.111C>TSubstitution - coding silent
NRG3ENSG00000185737ENST00000372141p.R678Qc.2033G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.T444Tc.1332C>TSubstitution - coding silent
CCL4L1ENSG00000205020ENST00000378352p.D29Vc.86A>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.R1191Rc.3573G>ASubstitution - coding silent
CRIP3ENSG00000146215ENST00000372569p.L180Lc.540G>CSubstitution - coding silent
ZBTB7AENSG00000178951ENST00000322357p.Q392*c.1174C>TSubstitution - Nonsense
DNAH5ENSG00000039139ENST00000265104p.?c.7407+10T>AUnknown
SENP6ENSG00000112701ENST00000447266p.A310Gc.929C>GSubstitution - Missense
PRRC1ENSG00000164244ENST00000296666p.P168Pc.504A>GSubstitution - coding silent
FIG4ENSG00000112367ENST00000230124p.T741Tc.2223G>TSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000296794p.R362Wc.1084C>TSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.C937Wc.2811T>GSubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.H464Rc.1391A>GSubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.P616Sc.1846C>TSubstitution - Missense
ZNF324ENSG00000083812ENST00000196482p.T508Tc.1524C>TSubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.V304Gc.911T>GSubstitution - Missense
PAMENSG00000145730ENST00000304400p.M229Ic.687G>TSubstitution - Missense
NRG1ENSG00000157168ENST00000520407p.?c.1175+2T>AUnknown
AFAP1ENSG00000196526ENST00000360265p.E246fs*7c.732_733insAInsertion - Frameshift
LNP1ENSG00000206535ENST00000383693p.S149fs*12c.440_441insAInsertion - Frameshift
BOLLENSG00000152430ENST00000321801p.S59fs*3c.177delTDeletion - Frameshift
PYGBENSG00000100994ENST00000216962p.G23Gc.69C>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000190611p.R443Rc.1329A>GSubstitution - coding silent
HEPACAM2ENSG00000188175ENST00000341723p.H178Yc.532C>TSubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.R662Qc.1985G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.R1719Wc.5155C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A1239Tc.3715G>ASubstitution - Missense
QKIENSG00000112531ENST00000361752p.P279Pc.837C>TSubstitution - coding silent
QKIENSG00000112531ENST00000275262p.P279Pc.837C>TSubstitution - coding silent
CLDND1ENSG00000080822ENST00000341181p.R80Wc.238C>TSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.M1244Tc.3731T>CSubstitution - Missense
ENST00000328843_v70p.D1741Nc.5221G>ASubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.A48Tc.142G>ASubstitution - Missense
FOXK1ENSG00000164916ENST00000328914p.P214Lc.641C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.D49Hc.145G>CSubstitution - Missense
ECE1ENSG00000117298ENST00000264205p.R659Qc.1976G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.E1254Vc.3761A>TSubstitution - Missense
C5ENSG00000106804ENST00000223642p.L571Vc.1711C>GSubstitution - Missense
PPIGENSG00000138398ENST00000260970p.?c.289+5A>GUnknown
SNX21ENSG00000124104ENST00000491381p.P233Pc.699G>ASubstitution - coding silent
EVC2ENSG00000173040ENST00000344408p.K943Nc.2829G>CSubstitution - Missense
AFF4ENSG00000072364ENST00000265343p.P259Pc.777C>TSubstitution - coding silent
ANKRD34BENSG00000189127ENST00000338682p.N78Sc.233A>GSubstitution - Missense
NAP1L3ENSG00000186310ENST00000373079p.P446Lc.1337C>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.S1366Sc.4098G>ASubstitution - coding silent
NAT8ENSG00000144035ENST00000272425p.R34Wc.100C>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000341421p.A585Vc.1754C>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.S596Sc.1788A>TSubstitution - coding silent
EDARENSG00000135960ENST00000258443p.G226Ac.677G>CSubstitution - Missense
SULT1C2ENSG00000198203ENST00000326853p.L138Ic.412C>ASubstitution - Missense
HGSNATENSG00000165102ENST00000458501p.I641Ic.1923C>TSubstitution - coding silent
PUM2ENSG00000055917ENST00000338086p.G250Rc.748G>ASubstitution - Missense
ZFPM1ENSG00000179588ENST00000319555p.A21Ac.63C>GSubstitution - coding silent
ACSF3ENSG00000176715ENST00000317447p.G417Gc.1251G>TSubstitution - coding silent
NXPE3ENSG00000144815ENST00000273347p.T41Ac.121A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.V17842Vc.53526C>ASubstitution - coding silent
NAPRT1ENSG00000147813ENST00000449291p.R281Wc.841C>TSubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.A226Ac.678C>GSubstitution - coding silent
KRT39ENSG00000196859ENST00000355612p.L72Vc.214C>GSubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.M567Lc.1699A>CSubstitution - Missense
EOGTENSG00000163378ENST00000295571p.R200Hc.599G>ASubstitution - Missense
ENST00000215591p.G327Ec.980G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V2203Mc.6607G>ASubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.?c.340-6A>GUnknown
TTC39AENSG00000085831ENST00000262676p.G368Rc.1102G>CSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V865Ic.2593G>ASubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.R151Kc.452G>ASubstitution - Missense
A1CFENSG00000148584ENST00000282641p.Q351Hc.1053G>CSubstitution - Missense
A1CFENSG00000148584ENST00000374001p.Q351Hc.1053G>CSubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.L76Fc.228G>TSubstitution - Missense
NUBP2ENSG00000095906ENST00000262302p.D264Ac.791A>CSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.L1256Lc.3768C>TSubstitution - coding silent
SPPL3ENSG00000157837ENST00000353487p.K45Kc.135G>ASubstitution - coding silent
CD244ENSG00000122223ENST00000368033p.A52Vc.155C>TSubstitution - Missense
MDP1ENSG00000213920ENST00000288087p.K159Ec.475A>GSubstitution - Missense
FAM186BENSG00000135436ENST00000257894p.M843Tc.2528T>CSubstitution - Missense
PANK1ENSG00000152782ENST00000307534p.M1Lc.1A>TSubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.?c.1280-9G>TUnknown
ANKRD30AENSG00000148513ENST00000602533p.D1231Yc.3691G>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.Y4318Fc.12953A>TSubstitution - Missense
ENST00000300671p.S3416Gc.10246A>GSubstitution - Missense
KATNAL1ENSG00000102781ENST00000380617p.R290Cc.868C>TSubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.S915Sc.2745G>ASubstitution - coding silent
DTNBP1ENSG00000047579ENST00000355917p.P105Lc.314C>TSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.Y1117Yc.3351C>TSubstitution - coding silent
ZNF41ENSG00000147124ENST00000397050p.T354Rc.1061C>GSubstitution - Missense
AKAP1ENSG00000121057ENST00000314126p.A565Ac.1695G>ASubstitution - coding silent
CCL4L1ENSG00000205020ENST00000591637p.D29Vc.86A>TSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.S563Lc.1688C>TSubstitution - Missense
TGOLN2ENSG00000152291ENST00000377386p.R259Gc.775C>GSubstitution - Missense
BREENSG00000158019ENST00000344773p.R401Kc.1202G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.V17775Ac.53324T>CSubstitution - Missense
NM_003319p.V17650Ac.52949T>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.G3609Gc.10827C>TSubstitution - coding silent
GMDSENSG00000112699ENST00000380815p.V278Dc.833T>ASubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.D1453Hc.4357G>CSubstitution - Missense
AXIN2ENSG00000168646ENST00000307078p.L608Vc.1822C>GSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.R1329Qc.3986G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.E1254Vc.3761A>TSubstitution - Missense
ANGPT2ENSG00000091879ENST00000325203p.N257Ic.770A>TSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.I1114Mc.3342T>GSubstitution - Missense
A1CFENSG00000148584ENST00000373995p.Q359Hc.1077G>CSubstitution - Missense
SIPA1ENSG00000213445ENST00000394224p.R426Cc.1276C>TSubstitution - Missense
WDR65ENSG00000243710ENST00000528956p.P564Pc.1692C>TSubstitution - coding silent
FCGR3AENSG00000203747ENST00000367969p.E90Kc.268G>ASubstitution - Missense
TIGD3ENSG00000173825ENST00000309880p.P169Rc.506C>GSubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.A924Ac.2772G>ASubstitution - coding silent
PLXNA2ENSG00000076356ENST00000367033p.R1383Qc.4148G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.R967Kc.2900G>ASubstitution - Missense
CH25HENSG00000138135ENST00000371852p.S165Sc.495C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.M133Kc.398T>ASubstitution - Missense
JAK2ENSG00000096968ENST00000381652p.V617Fc.1849G>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.G3472Gc.10416C>TSubstitution - coding silent
QKIENSG00000112531ENST00000392127p.P279Pc.837C>TSubstitution - coding silent
PDE1AENSG00000115252ENST00000409365p.E192*c.574G>TSubstitution - Nonsense
TSKSENSG00000126467ENST00000358830p.R161Kc.482G>ASubstitution - Missense
ANXA13ENSG00000104537ENST00000262219p.S83Sc.249G>ASubstitution - coding silent
RBM33ENSG00000184863ENST00000401878p.P1014Pc.3042G>ASubstitution - coding silent
PPP1R18ENSG00000146112ENST00000399199p.G384Rc.1150G>ASubstitution - Missense
MAP3K7ENSG00000135341ENST00000369329p.S328Tc.983G>CSubstitution - Missense
ME1ENSG00000065833ENST00000369705p.E52Dc.156G>TSubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.T811Ac.2431A>GSubstitution - Missense
ENST00000316490_v65p.N2888Sc.8663A>GSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.L546Lc.1638G>ASubstitution - coding silent
CDKL3ENSG00000006837ENST00000523832p.E2Gc.5A>GSubstitution - Missense
STON1-GTF2A1LENSG00000068781ENST00000394754p.S1028Ac.3082T>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.?c.4089+1G>AUnknown
STK16ENSG00000115661ENST00000409638p.T274Tc.822C>TSubstitution - coding silent
DLEC1ENSG00000008226ENST00000346219p.F510Fc.1530C>TSubstitution - coding silent
DCBLD2ENSG00000057019ENST00000326840p.Q695Qc.2085G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.F4515Ic.13543T>ASubstitution - Missense
C2orf54ENSG00000172478ENST00000388934p.R115Wc.343A>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.L1346Pc.4037T>CSubstitution - Missense
PGM2ENSG00000169299ENST00000381967p.?c.1188+4G>CUnknown
KRT10ENSG00000186395ENST00000269576p.G123Gc.369T>ASubstitution - coding silent
ENST00000315574p.A1013Ac.3039T>CSubstitution - coding silent
HIST1H4FENSG00000198327ENST00000377745p.G103Dc.308G>ASubstitution - Missense
NAPRT1ENSG00000147813ENST00000340490p.R257Wc.769C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.P1202Pc.3606G>ASubstitution - coding silent
C17orf85ENSG00000074356ENST00000389005p.A426Gc.1277C>GSubstitution - Missense
ENST00000330749p.T105Tc.315A>GSubstitution - coding silent
TMEM222ENSG00000186501ENST00000374076p.L189Mc.565C>ASubstitution - Missense
ZDHHC22ENSG00000177108ENST00000319374p.A198Ac.594C>TSubstitution - coding silent
FBLIM1ENSG00000162458ENST00000441801p.D96Dc.288C>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.A1230Ac.3690C>TSubstitution - coding silent
SWAP70ENSG00000133789ENST00000318950p.?c.1188+1G>AUnknown
MAB21L1ENSG00000180660ENST00000379919p.E226*c.676G>TSubstitution - Nonsense
ERLIN1ENSG00000107566ENST00000421367p.K344fs*>4c.1031_1034delAAGADeletion - Frameshift
TFB2MENSG00000162851ENST00000366514p.T372Ic.1115C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.L3915Lc.11743C>TSubstitution - coding silent
MEF2DENSG00000116604ENST00000348159p.T432Pc.1294A>CSubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.G674Dc.2021G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.P1084Lc.3251C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.M133Kc.398T>ASubstitution - Missense
ENST00000450194p.P40Lc.119C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.?c.23089-8C>TUnknown
CDC20BENSG00000164287ENST00000331730p.A38Ac.114G>CSubstitution - coding silent
CCDC129ENSG00000180347ENST00000451887p.G849Vc.2546G>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.S3407Gc.10219A>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.V478Vc.1434G>TSubstitution - coding silent
ENSG00000186838ENST00000423711p.P291Pc.873G>ASubstitution - coding silent
COL27A1ENSG00000196739ENST00000356083p.G1096Vc.3287G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.M133Kc.398T>ASubstitution - Missense
EML3ENSG00000149499ENST00000529309p.R259Rc.777T>ASubstitution - coding silent
PMELENSG00000185664ENST00000449260p.L647Lc.1939C>TSubstitution - coding silent
MEF2DENSG00000116604ENST00000340875p.T431Pc.1291A>CSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.?c.205+4_205+5insAUnknown
PCDHB16ENSG00000196963ENST00000361016p.E253Gc.758A>GSubstitution - Missense
ASIC3ENSG00000213199ENST00000349064p.S15Lc.44C>TSubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.Q188Kc.562C>ASubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.H373Yc.1117C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.I2413Ic.7239C>TSubstitution - coding silent
SREK1ENSG00000153914ENST00000334121p.S105Sc.315C>TSubstitution - coding silent
KIF15ENSG00000163808ENST00000326047p.G329Ec.986G>ASubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.H617Hc.1851T>CSubstitution - coding silent
HGDENSG00000113924ENST00000283871p.E27Ac.80A>CSubstitution - Missense
RELNENSG00000189056ENST00000343529p.L998Vc.2992C>GSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.T1054Pc.3160A>CSubstitution - Missense
NM_020340.2p.S927Sc.2781C>TSubstitution - coding silent
ZNF419ENSG00000105136ENST00000347466p.V271Gc.812T>GSubstitution - Missense
ENST00000318252p.T173Tc.519C>TSubstitution - coding silent
PLAGL2ENSG00000126003ENST00000246229p.C224Cc.672T>CSubstitution - coding silent
FRYLENSG00000075539ENST00000503238p.P1902Pc.5706T>CSubstitution - coding silent
FOXN1ENSG00000109101ENST00000579795p.P395Lc.1184C>TSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.P631Pc.1893C>TSubstitution - coding silent
TLE2ENSG00000065717ENST00000262953p.?c.873+5G>AUnknown
TP53ENSG00000141510ENST00000269305p.D49Hc.145G>CSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.K45Nc.135G>CSubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.M487Lc.1459A>CSubstitution - Missense
ENST00000298047_v61p.K2987Rc.8960A>GSubstitution - Missense
ATP1A1ENSG00000163399ENST00000295598p.C971Cc.2913C>TSubstitution - coding silent
VSIG8ENSG00000243284ENST00000368100p.G193Wc.577G>TSubstitution - Missense
NUP37ENSG00000075188ENST00000552283p.C172Rc.514T>CSubstitution - Missense
FLT1ENSG00000102755ENST00000541932p.?c.1436+6G>AUnknown
FLT1ENSG00000102755ENST00000539099p.?c.1436+6G>AUnknown
MRPS11ENSG00000181991ENST00000325844p.R192Qc.575G>ASubstitution - Missense
COG6ENSG00000133103ENST00000455146p.?c.1417-8A>CUnknown
KCNMA1ENSG00000156113ENST00000406533p.R1226Rc.3678G>ASubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.D594Dc.1782T>CSubstitution - coding silent
ACACBENSG00000076555ENST00000543201p.G524Rc.1570G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.M687Vc.2059A>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000342183p.A164Tc.490G>ASubstitution - Missense
ARHGEF28ENSG00000214944ENST00000296794p.S355Lc.1064C>TSubstitution - Missense
NAPRT1ENSG00000147813ENST00000276844p.R281Wc.841C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.A1191Tc.3571G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000595684p.R225Wc.673C>TSubstitution - Missense
MSMO1ENSG00000052802ENST00000261507p.N236Sc.707A>GSubstitution - Missense
YEATS2ENSG00000163872ENST00000305135p.I1226Ic.3678C>TSubstitution - coding silent
CDHR3ENSG00000128536ENST00000542731p.T631Pc.1891A>CSubstitution - Missense
GALNT10ENSG00000164574ENST00000297107p.V232Gc.695T>GSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.Y1164Hc.3490T>CSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.E1222delEc.3664_3666delGAADeletion - In frame
TMX3ENSG00000166479ENST00000299608p.P100Pc.300A>GSubstitution - coding silent
SIM1ENSG00000112246ENST00000262901p.E19Kc.55G>ASubstitution - Missense
MRPL3ENSG00000114686ENST00000264995p.H33Rc.98A>GSubstitution - Missense
NGEFENSG00000066248ENST00000264051p.I676fs*>35c.2027delTDeletion - Frameshift
DNAJC17ENSG00000104129ENST00000220496p.?c.208-7C>AUnknown
SPATA7ENSG00000042317ENST00000393545p.K351Kc.1053G>ASubstitution - coding silent
ZNF259ENSG00000109917ENST00000227322p.R226Qc.677G>ASubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.M16fs*5c.45_46insAInsertion - Frameshift
CLIP1ENSG00000130779ENST00000358808p.A643Vc.1928C>TSubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.P75Pc.225C>TSubstitution - coding silent
ENST00000356370_v68p.G8Ac.23G>CSubstitution - Missense
WDR73ENSG00000177082ENST00000434634p.D118Ec.354T>GSubstitution - Missense
PTPREENSG00000132334ENST00000306042p.P612Sc.1834C>TSubstitution - Missense
VCLENSG00000035403ENST00000211998p.L572Lc.1716T>GSubstitution - coding silent
CLN5ENSG00000102805ENST00000377453p.P196Pc.588C>TSubstitution - coding silent
NUFIP1ENSG00000083635ENST00000379161p.K402Ec.1204A>GSubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.C882Sc.2644T>ASubstitution - Missense
SULT2B1ENSG00000088002ENST00000323090p.R283Hc.848G>ASubstitution - Missense
DGKIENSG00000157680ENST00000424189p.E116Ec.348A>GSubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.F551Fc.1653C>TSubstitution - coding silent
CLIP1ENSG00000130779ENST00000540338p.A654Vc.1961C>TSubstitution - Missense
ENST00000372160p.T54Tc.162C>GSubstitution - coding silent
SLC26A3ENSG00000091138ENST00000340010p.N748Nc.2244T>CSubstitution - coding silent
DLDENSG00000091140ENST00000205402p.S10Fc.29C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.T631Pc.1891A>CSubstitution - Missense
ZBTB7AENSG00000178951ENST00000322357p.I391Ic.1173C>TSubstitution - coding silent
PNCKENSG00000130822ENST00000370145p.?c.465+9C>TUnknown
PCDH1ENSG00000156453ENST00000394536p.V1058Mc.3172G>ASubstitution - Missense
MAP3K7ENSG00000135341ENST00000369332p.S328Tc.983G>CSubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.Q244*c.730C>TSubstitution - Nonsense
RAD50ENSG00000113522ENST00000265335p.L642Vc.1924T>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.G931Gc.2793C>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.?c.4194+1G>AUnknown
WDR52ENSG00000206530ENST00000393845p.E994Ac.2981A>CSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.G700Ac.2099G>CSubstitution - Missense
DMDENSG00000198947ENST00000378707p.L835Pc.2504T>CSubstitution - Missense
ENST00000378682p.L1954Pc.5861T>CSubstitution - Missense
C4orf21ENSG00000138658ENST00000309071p.F374Ic.1120T>ASubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.D816Dc.2448C>TSubstitution - coding silent
ENST00000284020p.V278Gc.833T>GSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.K262Kc.786G>ASubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.I3229Vc.9685A>GSubstitution - Missense
CES3ENSG00000172828ENST00000303334p.F216Lc.648C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.F279Ic.835T>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.?c.3506-5C>GUnknown
PASKENSG00000115687ENST00000234040p.E1305fs*4c.3909_3910insGInsertion - Frameshift
EMC3ENSG00000125037ENST00000429759p.D200Hc.598G>CSubstitution - Missense
PDE11AENSG00000128655ENST00000358450p.P245Lc.734C>TSubstitution - Missense
NAT2ENSG00000156006ENST00000286479p.T113Tc.339C>TSubstitution - coding silent
NM_004260.1p.A593Ac.1779C>ASubstitution - coding silent
PPLENSG00000118898ENST00000345988p.A1493Ac.4479G>ASubstitution - coding silent
CCDC40ENSG00000141519ENST00000374877p.T146Sc.437C>GSubstitution - Missense
ZBP1ENSG00000124256ENST00000541799p.G75Gc.225C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.M133Kc.398T>ASubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.L83Lc.249C>TSubstitution - coding silent
LEPRENSG00000116678ENST00000344610p.A125Ac.375A>CSubstitution - coding silent
RGS8ENSG00000135824ENST00000258302p.F103Lc.309C>GSubstitution - Missense
NSUN6ENSG00000241058ENST00000377304p.D209Gc.626A>GSubstitution - Missense
TXNIPENSG00000117289ENST00000369317p.D336Dc.1008T>CSubstitution - coding silent
BLMENSG00000197299ENST00000355112p.K1009Ec.3025A>GSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.E725*c.2173G>TSubstitution - Nonsense
VPS26AENSG00000122958ENST00000373382p.?c.552-4A>GUnknown
PHRF1ENSG00000070047ENST00000416188p.A597Sc.1789G>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.T605Tc.1815T>CSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.T2057Sc.6170C>GSubstitution - Missense
TSPAN14ENSG00000108219ENST00000372156p.T54Tc.162C>GSubstitution - coding silent
IRAK3ENSG00000090376ENST00000261233p.E494Kc.1480G>ASubstitution - Missense
DCTENSG00000080166ENST00000446125p.L331Fc.991C>TSubstitution - Missense
CCDC74BENSG00000152076ENST00000392984p.P288Pc.864C>GSubstitution - coding silent
ADAM19ENSG00000135074ENST00000394020p.P317Rc.950C>GSubstitution - Missense
C16orf62ENSG00000103544ENST00000448695p.N757Kc.2271C>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.R447Rc.1341A>GSubstitution - coding silent
ENST00000204005_v70p.?c.1649-10G>AUnknown
ELF1ENSG00000120690ENST00000239882p.P457Sc.1369C>TSubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.R101Lc.302G>TSubstitution - Missense
ENSG00000186838ENST00000335426p.P291Pc.873G>ASubstitution - coding silent
P2RX6ENSG00000099957ENST00000336296p.S428Sc.1284C>TSubstitution - coding silent
SENP6ENSG00000112701ENST00000370014p.A310Gc.929C>GSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.A1557Ac.4671A>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.R4079Ic.12236G>TSubstitution - Missense
FSTL4ENSG00000053108ENST00000265342p.P251Hc.752C>ASubstitution - Missense
NM_133482.1p.L503Vc.1507T>GSubstitution - Missense
GARSENSG00000106105ENST00000389266p.D116Hc.346G>CSubstitution - Missense
DMDENSG00000198947ENST00000357033p.L3295Pc.9884T>CSubstitution - Missense
DMDENSG00000198947ENST00000357033p.K2700Nc.8100G>CSubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.P814Lc.2441C>TSubstitution - Missense
MRPL1ENSG00000169288ENST00000315567p.A50Gc.149C>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.S3724Cc.11171C>GSubstitution - Missense
PPLENSG00000118898ENST00000345988p.E1494Kc.4480G>ASubstitution - Missense
TLR1ENSG00000174125ENST00000308979p.C530Yc.1589G>ASubstitution - Missense
ABHD14AENSG00000248487ENST00000273596p.N67Sc.200A>GSubstitution - Missense
MRS2ENSG00000124532ENST00000378386p.G397Ac.1190G>CSubstitution - Missense
ABCG1ENSG00000160179ENST00000398437p.A372Ac.1116C>GSubstitution - coding silent
AFAP1ENSG00000196526ENST00000360265p.A707Ac.2121C>GSubstitution - coding silent
TNFAIP1ENSG00000109079ENST00000226225p.T41Pc.121A>CSubstitution - Missense
ENST00000300671p.Q1886Qc.5658G>ASubstitution - coding silent
MZF1ENSG00000099326ENST00000215057p.K168Nc.504G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.M2665Lc.7993A>CSubstitution - Missense
ENST00000298047_v61p.S3483Sc.10449A>CSubstitution - coding silent
KNTC1ENSG00000184445ENST00000333479p.?c.1488+8C>TUnknown
FAM63BENSG00000128923ENST00000559228p.Y351Cc.1052A>GSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.?c.1150+2T>GUnknown
BLZF1ENSG00000117475ENST00000367808p.L205Sc.614T>CSubstitution - Missense
OSGEPENSG00000092094ENST00000206542p.?c.115+8A>GUnknown
CPSF7ENSG00000149532ENST00000394888p.P218Pc.654C>TSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.I634Vc.1900A>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.V478Vc.1434G>TSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.R843Qc.2528G>ASubstitution - Missense
RTCAENSG00000137996ENST00000370128p.?c.415-8T>AUnknown
CDC20BENSG00000164287ENST00000322374p.A59Ac.177G>CSubstitution - coding silent
POM121ENSG00000196313ENST00000434423p.G965Ac.2894G>CSubstitution - Missense
PHGDHENSG00000092621ENST00000369407p.W472*c.1416G>ASubstitution - Nonsense
TDRD5ENSG00000162782ENST00000444136p.G821Dc.2462G>ASubstitution - Missense
OR5AR1ENSG00000172459ENST00000302969p.T210Ic.629C>TSubstitution - Missense
TMEM38AENSG00000072954ENST00000187762p.H139Yc.415C>TSubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.E284Kc.850G>ASubstitution - Missense
CLPSENSG00000137392ENST00000259938p.S64Sc.192C>TSubstitution - coding silent
SRPK1ENSG00000096063ENST00000373825p.?c.391-9C>TUnknown
COL28A1ENSG00000215018ENST00000399429p.N941Dc.2821A>GSubstitution - Missense
ENST00000396750p.R211Pc.632G>CSubstitution - Missense
ENST00000396750_v65p.R211Pc.632G>CSubstitution - Missense
NUPR1ENSG00000176046ENST00000324873p.G44Dc.131G>ASubstitution - Missense
TRABD2AENSG00000186854ENST00000409520p.P354_P358delPAGRPc.1060_1074del15Deletion - In frame
NHSL1ENSG00000135540ENST00000343505p.L153Lc.457C>TSubstitution - coding silent
ZNF134ENSG00000213762ENST00000396161p.A408Dc.1223C>ASubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.T795Tc.2385G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.F4515Yc.13544T>ASubstitution - Missense
ASH2LENSG00000129691ENST00000343823p.P18Lc.53C>TSubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.L510Lc.1530G>ASubstitution - coding silent
SLC13A4ENSG00000164707ENST00000354042p.N209Nc.627C>TSubstitution - coding silent
GPR3ENSG00000181773ENST00000374024p.F263Fc.789C>TSubstitution - coding silent
PER3ENSG00000049246ENST00000361923p.?c.3522+6C>TUnknown


COSMIC

3 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
JAK3ENSG00000105639ENST00000458235p.A572Vc.1715C>TSubstitution - Missense16843266
JAK3ENSG00000105639ENST00000458235p.A572Vc.1715C>TSubstitution - Missense18755984
GATA1ENSG00000102145ENST00000376670p.E2fs*37c.5_7AGT>CComplex - frameshift15180862