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MEG-01 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

862 mutations reported
323 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
SCAMP3ENSG00000116521ENST00000302631p.R47Qc.140G>ASubstitution - Missense
ENST00000371192_v61p.E828*c.2482G>TSubstitution - Nonsense
SLC9C2ENSG00000162753ENST00000367714p.S492Sc.1476A>GSubstitution - coding silent
ADAM30ENSG00000134249ENST00000369400p.G319Ec.956G>ASubstitution - Missense
PYGMENSG00000068976ENST00000164139p.R270Rc.808C>ASubstitution - coding silent
NCOA4ENSG00000138293ENST00000452682p.Q286Qc.858A>GSubstitution - coding silent
COL4A1ENSG00000187498ENST00000375820p.L1447Pc.4340T>CSubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.Q246Lc.737A>TSubstitution - Missense
RBM12ENSG00000244462ENST00000374104p.I286Mc.858C>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H233delHc.697_699delCACDeletion - In frame
DSCAMENSG00000171587ENST00000400454p.Q1623Hc.4869G>TSubstitution - Missense
USP16ENSG00000156256ENST00000399976p.H758Nc.2272C>ASubstitution - Missense
KLHL15ENSG00000174010ENST00000328046p.T461Sc.1382C>GSubstitution - Missense
ACOT9ENSG00000123130ENST00000379303p.S384Sc.1152T>CSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.S1541Sc.4623C>TSubstitution - coding silent
TTLL8ENSG00000138892ENST00000266182p.G561Gc.1683C>GSubstitution - coding silent
PCDH11XENSG00000102290ENST00000504220p.V1003Vc.3009A>GSubstitution - coding silent
DHX57ENSG00000163214ENST00000295373p.?c.1588-2A>CUnknown
NM_133482.1p.L503Vc.1507T>GSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.S928Sc.2784G>ASubstitution - coding silent
FSTL4ENSG00000053108ENST00000265342p.P251Hc.752C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.R4330Kc.12989G>ASubstitution - Missense
PRSS55ENSG00000184647ENST00000328655p.N203fs*39c.603_604insAInsertion - Frameshift
ZNF391ENSG00000124613ENST00000244576p.K222Nc.666A>CSubstitution - Missense
RESTENSG00000084093ENST00000309042p.Q773Hc.2319G>CSubstitution - Missense
HMGCS1ENSG00000112972ENST00000325110p.M278Vc.832A>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T1907Tc.5721G>ASubstitution - coding silent
PPFIA2ENSG00000139220ENST00000333447p.G683Dc.2048G>ASubstitution - Missense
PPP2R1BENSG00000137713ENST00000527614p.I494Vc.1480A>GSubstitution - Missense
LCN2ENSG00000148346ENST00000373013p.M71Ic.213G>ASubstitution - Missense
ENST00000427170_v68p.?c.590+9A>GUnknown
TBL1XENSG00000101849ENST00000407597p.R544Qc.1631G>ASubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.M123Ic.369G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
NM_002847.2p.A469Ac.1407G>ASubstitution - coding silent
KIDINS220ENSG00000134313ENST00000319688p.L525Vc.1573C>GSubstitution - Missense
CEP135ENSG00000174799ENST00000422247p.Q207Pc.620A>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R3140Qc.9419G>ASubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.P723Pc.2169C>GSubstitution - coding silent
KRT83ENSG00000170523ENST00000293670p.C476*c.1428T>ASubstitution - Nonsense
PRDX3ENSG00000165672ENST00000298510p.R31Gc.91A>GSubstitution - Missense
KIAA1279ENSG00000198954ENST00000361983p.I506Kc.1517T>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.F779Fc.2337C>TSubstitution - coding silent
ARNTL2ENSG00000029153ENST00000266503p.A269Tc.805G>ASubstitution - Missense
SLC45A3ENSG00000158715ENST00000367145p.G449Ec.1346G>ASubstitution - Missense
SIGLEC7ENSG00000168995ENST00000317643p.N399Kc.1197C>GSubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.K121Nc.363G>CSubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.I265Ic.795C>TSubstitution - coding silent
SERPINB13ENSG00000197641ENST00000344731p.S30Sc.90C>TSubstitution - coding silent
PDE11AENSG00000128655ENST00000358450p.P245Lc.734C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.G1112Ec.3335G>ASubstitution - Missense
TFRCENSG00000072274ENST00000360110p.A102Ac.306A>CSubstitution - coding silent
CKAP2LENSG00000169607ENST00000302450p.E641Dc.1923G>CSubstitution - Missense
TXNRD3ENSG00000197763ENST00000383572p.R7Rc.19A>CSubstitution - coding silent
TRIP12ENSG00000153827ENST00000283943p.A237Tc.709G>ASubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.L642Vc.1924T>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.3962-3C>AUnknown
HIPK4ENSG00000160396ENST00000291823p.E400Ac.1199A>CSubstitution - Missense
NCOA4ENSG00000138293ENST00000438493p.Q286Qc.858A>GSubstitution - coding silent
PITRM1ENSG00000107959ENST00000224949p.D940Nc.2818G>ASubstitution - Missense
ENST00000314583_v70p.L68Ic.202C>ASubstitution - Missense
NCSTNENSG00000162736ENST00000368063p.G113Gc.339C>ASubstitution - coding silent
NCSTNENSG00000162736ENST00000438008p.G166Gc.498C>ASubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.L660Pc.1979T>CSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.K8Kc.24G>ASubstitution - coding silent
CTDSPL2ENSG00000137770ENST00000260327p.N223Sc.668A>GSubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.M16fs*5c.45_46insAInsertion - Frameshift
RNF115ENSG00000121848ENST00000369291p.T214Tc.642A>GSubstitution - coding silent
GPR65ENSG00000140030ENST00000267549p.C283Yc.848G>ASubstitution - Missense
PNNENSG00000100941ENST00000216832p.D127Dc.381C>TSubstitution - coding silent
PLEKHG3ENSG00000126822ENST00000247226p.T307Tc.921C>TSubstitution - coding silent
ENST00000414268p.H200Yc.598C>TSubstitution - Missense
MCOLN1ENSG00000090674ENST00000264079p.A416Vc.1247C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S2595Rc.7785C>ASubstitution - Missense
ENST00000366809p.S1023Sc.3069G>ASubstitution - coding silent
TBC1D3ENSG00000197681ENST00000354664p.T315Tc.945G>ASubstitution - coding silent
ENST00000356127p.R13564Cc.40690C>TSubstitution - Missense
NM_003319p.V7269Mc.21805G>ASubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.S882Sc.2646G>ASubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.E400Vc.1199A>TSubstitution - Missense
PHKA2ENSG00000044446ENST00000379942p.S1203Sc.3609C>TSubstitution - coding silent
GSK3BENSG00000082701ENST00000316626p.V126Ic.376G>ASubstitution - Missense
TRDNENSG00000186439ENST00000398178p.L32Lc.94C>TSubstitution - coding silent
ARHGEF33ENSG00000214694ENST00000398800p.F825Lc.2473T>CSubstitution - Missense
ZNF527ENSG00000189164ENST00000356178p.F16Yc.47T>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.D467Hc.1399G>CSubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.N429Sc.1286A>GSubstitution - Missense
CALR3ENSG00000269058ENST00000269881p.L276Vc.826C>GSubstitution - Missense
HELLSENSG00000119969ENST00000371332p.?c.889-8T>AUnknown
TP53ENSG00000141510ENST00000420246p.H233delHc.697_699delCACDeletion - In frame
ARHGAP25ENSG00000163219ENST00000497079p.Y279Cc.836A>GSubstitution - Missense
USP16ENSG00000156256ENST00000535828p.H387Nc.1159C>ASubstitution - Missense
AQP7ENSG00000165269ENST00000379507p.F75Fc.225C>TSubstitution - coding silent
ZSCAN10ENSG00000130182ENST00000252463p.P288Lc.863C>TSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.L1995Lc.5985C>TSubstitution - coding silent
SUPT7LENSG00000119760ENST00000337768p.K121Kc.363G>ASubstitution - coding silent
EIF2B4ENSG00000115211ENST00000451130p.A336Gc.1007C>GSubstitution - Missense
ASPHD2ENSG00000128203ENST00000215906p.V307Vc.921G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.A6050Ac.18150C>TSubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.?c.1095+5G>TUnknown
DHX34ENSG00000134815ENST00000328771p.L472Lc.1414C>TSubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000326016p.R355Cc.1063C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.G2898Gc.8694G>ASubstitution - coding silent
KCNH7ENSG00000184611ENST00000332142p.S296Sc.888C>TSubstitution - coding silent
CRYBB3ENSG00000100053ENST00000215855p.?c.194+4A>GUnknown
FCGBPENSG00000090920ENST00000221347p.Y4274Yc.12822C>TSubstitution - coding silent
TRIP12ENSG00000153827ENST00000543084p.A279Tc.835G>ASubstitution - Missense
ADD1ENSG00000087274ENST00000398125p.M123Ic.369G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.R1843delRc.5524_5526delAGADeletion - In frame
NKX6-2ENSG00000148826ENST00000368592p.L185Lc.553C>TSubstitution - coding silent
CCSENSG00000173992ENST00000533244p.G117Rc.349G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.V415Lc.1243G>TSubstitution - Missense
FOXJ3ENSG00000198815ENST00000372573p.Q272Qc.816G>ASubstitution - coding silent
HMBSENSG00000256269ENST00000278715p.H239Hc.717C>TSubstitution - coding silent
USP28ENSG00000048028ENST00000003302p.P1031Pc.3093C>ASubstitution - coding silent
FLAD1ENSG00000160688ENST00000292180p.F448Lc.1342T>CSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.G2353Sc.7057G>ASubstitution - Missense
DSC2ENSG00000134755ENST00000251081p.K121Nc.363G>CSubstitution - Missense
ENSG00000257743ENST00000477922p.S367Fc.1100C>TSubstitution - Missense
LYNX1ENSG00000180155ENST00000398906p.Y88Yc.264C>TSubstitution - coding silent
ENST00000356127p.A15902Vc.47705C>TSubstitution - Missense
NEFHENSG00000100285ENST00000310624p.K749Ec.2245A>GSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.G1196Rc.3586G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000539981p.S928Sc.2784C>TSubstitution - coding silent
ENPEPENSG00000138792ENST00000265162p.L617Hc.1850T>ASubstitution - Missense
RBBP7ENSG00000102054ENST00000380087p.A293Ac.879G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000395337p.V1003Vc.3009A>GSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000259335p.E1652Qc.4954G>CSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.R2001Kc.6002G>ASubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.R412Kc.1235G>ASubstitution - Missense
ENST00000377643p.I643Ic.1929C>TSubstitution - coding silent
CEP135ENSG00000174799ENST00000257287p.Q207Pc.620A>CSubstitution - Missense
ENST00000251268_v61p.V1355Ic.4063G>ASubstitution - Missense
EIF4A2ENSG00000156976ENST00000323963p.R296Rc.888A>GSubstitution - coding silent
NBPF9ENSG00000168614ENST00000281815p.V131Mc.391G>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.G346Gc.1038C>TSubstitution - coding silent
IP6K3ENSG00000161896ENST00000451316p.A240Vc.719C>TSubstitution - Missense
GLYATL2ENSG00000156689ENST00000287275p.P280Pc.840T>CSubstitution - coding silent
SLCO2B1ENSG00000137491ENST00000289575p.E26Qc.76G>CSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.K1137Ec.3409A>GSubstitution - Missense
EHD4ENSG00000103966ENST00000220325p.?c.925-7C>AUnknown
LTBP3ENSG00000168056ENST00000322147p.G738Rc.2212G>CSubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.D658Gc.1973A>GSubstitution - Missense
LGMNENSG00000100600ENST00000334869p.A401Ac.1203G>ASubstitution - coding silent
ENST00000355290p.S269Sc.807T>CSubstitution - coding silent
OR7D2ENSG00000188000ENST00000344248p.G16Rc.46G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H233delHc.697_699delCACDeletion - In frame
CYP7A1ENSG00000167910ENST00000301645p.M227Ic.681G>ASubstitution - Missense
PRAM1ENSG00000133246ENST00000423345p.S484Lc.1451C>TSubstitution - Missense
LRRC8EENSG00000171017ENST00000306708p.R756Hc.2267G>ASubstitution - Missense
TMEM107ENSG00000179029ENST00000316425p.C57Yc.170G>ASubstitution - Missense
HDGFL1ENSG00000112273ENST00000230012p.A27Ac.81G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.V11693Ic.35077G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R7192Cc.21574C>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.A1237Tc.3709G>ASubstitution - Missense
BCAT2ENSG00000105552ENST00000316273p.?c.1065+3G>AUnknown
PLIN2ENSG00000147872ENST00000276914p.R315Gc.943C>GSubstitution - Missense
ZBTB34ENSG00000177125ENST00000373452p.S93Sc.279C>TSubstitution - coding silent
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
DNAH17ENSG00000187775ENST00000389840p.D284Nc.850G>ASubstitution - Missense
CCL4L1ENSG00000205020ENST00000378352p.D29Vc.86A>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.L194Sc.581T>CSubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.A152Tc.454G>ASubstitution - Missense
ENST00000432996p.P557Pc.1671G>ASubstitution - coding silent
DKK3ENSG00000050165ENST00000396505p.T119Tc.357C>GSubstitution - coding silent
PLXDC2ENSG00000120594ENST00000377252p.L329Ic.985C>ASubstitution - Missense
ENST00000398121p.Y15Cc.44A>GSubstitution - Missense
C1orf186ENSG00000196533ENST00000331555p.Y155delYc.464_466delATTDeletion - In frame
TSPAN4ENSG00000214063ENST00000397397p.G127Sc.379G>ASubstitution - Missense
FNTBENSG00000257365ENST00000246166p.K77Kc.231G>ASubstitution - coding silent
CYP4A11ENSG00000187048ENST00000310638p.N511Kc.1533C>GSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.H200Yc.598C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E388Dc.1164A>CSubstitution - Missense
ZACNENSG00000186919ENST00000334586p.?c.98-3_98-2delcaUnknown
UBN1ENSG00000118900ENST00000396658p.A144Ac.432G>ASubstitution - coding silent
ENST00000404649p.Q125Qc.375A>GSubstitution - coding silent
ENST00000405167p.H1661Dc.4981C>GSubstitution - Missense
XYLBENSG00000093217ENST00000207870p.L516Fc.1546C>TSubstitution - Missense
PAMENSG00000145730ENST00000304400p.H724Hc.2172T>CSubstitution - coding silent
CDKL5ENSG00000008086ENST00000379996p.T431Ac.1291A>GSubstitution - Missense
HS6ST1ENSG00000136720ENST00000259241p.H63Dc.187C>GSubstitution - Missense
PRRC1ENSG00000164244ENST00000442138p.G402Vc.1205G>TSubstitution - Missense
ZNF451ENSG00000112200ENST00000370706p.C813Sc.2438G>CSubstitution - Missense
SLC6A8ENSG00000130821ENST00000253122p.?c.1496-8C>TUnknown
FILIP1ENSG00000118407ENST00000237172p.?c.629+6G>CUnknown
OR2A12ENSG00000221858ENST00000408949p.C96Sc.286T>ASubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.N3954Nc.11862C>TSubstitution - coding silent
UBE3CENSG00000009335ENST00000348165p.K868Nc.2604G>CSubstitution - Missense
CYP21A2ENSG00000231852ENST00000418967p.E137*c.409G>TSubstitution - Nonsense
MEGF8ENSG00000105429ENST00000334370p.V1288Ic.3862G>ASubstitution - Missense
CWC27ENSG00000153015ENST00000381070p.I41Vc.121A>GSubstitution - Missense
NUP98ENSG00000110713ENST00000397007p.P157Pc.471T>CSubstitution - coding silent
LDB3ENSG00000122367ENST00000458213p.A312Tc.934G>ASubstitution - Missense
ENST00000325103_v70p.A167Ac.501C>TSubstitution - coding silent
PLB1ENSG00000163803ENST00000329020p.?c.345-5T>GUnknown
CCL4L1ENSG00000205020ENST00000591637p.D29Vc.86A>TSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.M1378Vc.4132A>GSubstitution - Missense
PITRM1ENSG00000107959ENST00000380989p.D941Nc.2821G>ASubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.D639Dc.1917C>TSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.N176Kc.528T>ASubstitution - Missense
CDCP2ENSG00000157211ENST00000371330p.H216Hc.648C>TSubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.T239Tc.717C>TSubstitution - coding silent
C14orf37ENSG00000139971ENST00000267485p.G372Gc.1116G>TSubstitution - coding silent
C20orf196ENSG00000171984ENST00000378979p.S40Rc.120C>GSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.L217delLc.641_643delTTCDeletion - In frame
KIDINS220ENSG00000134313ENST00000256707p.L524Vc.1570C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.V11626Ic.34876G>ASubstitution - Missense
SAFB2ENSG00000130254ENST00000252542p.?c.2208-5A>CUnknown
DFNA5ENSG00000105928ENST00000342947p.F260Fc.780T>CSubstitution - coding silent
CERS1ENSG00000223802ENST00000427170p.?c.590+9A>GUnknown
MEGF11ENSG00000157890ENST00000360698p.G430Ec.1289G>ASubstitution - Missense
FASTKD1ENSG00000138399ENST00000453153p.L342Lc.1024C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.V3567Mc.10699G>ASubstitution - Missense
CR1ENSG00000203710ENST00000400960p.C266Sc.796T>ASubstitution - Missense
CPXM2ENSG00000121898ENST00000241305p.P741Pc.2223A>CSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.K1086Nc.3258G>CSubstitution - Missense
CD84ENSG00000066294ENST00000368054p.?c.761-1G>CUnknown
PIGLENSG00000108474ENST00000225609p.L64Sc.191T>CSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.S1503Lc.4508C>TSubstitution - Missense
NM_003895.2p.S992Sc.2976A>GSubstitution - coding silent
CYP11B1ENSG00000160882ENST00000292427p.S150Sc.450G>ASubstitution - coding silent
HRASLSENSG00000127252ENST00000264735p.V150Lc.448G>CSubstitution - Missense
NUP98ENSG00000110713ENST00000359171p.P157Pc.471T>CSubstitution - coding silent
HELLSENSG00000119969ENST00000394044p.?c.889-8T>AUnknown
ENST00000378024_v70p.G4578Dc.13733G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.S1510Lc.4529C>TSubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.T427Ic.1280C>TSubstitution - Missense
LDLRAD3ENSG00000179241ENST00000315571p.A300Vc.899C>TSubstitution - Missense
NHLRC3ENSG00000188811ENST00000379600p.F141Vc.421T>GSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.N176Kc.528T>ASubstitution - Missense
HTRA1ENSG00000166033ENST00000368984p.A281Ac.843C>TSubstitution - coding silent
PCSK9ENSG00000169174ENST00000302118p.I424Vc.1270A>GSubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.Q1531Pc.4592A>CSubstitution - Missense
FGD4ENSG00000139132ENST00000427716p.S68Fc.203C>TSubstitution - Missense
FLAD1ENSG00000160688ENST00000292180p.Q447Qc.1341G>ASubstitution - coding silent
FLAD1ENSG00000160688ENST00000405236p.S299Nc.896G>ASubstitution - Missense
CARS2ENSG00000134905ENST00000257347p.C296Cc.888C>TSubstitution - coding silent
IGDCC3ENSG00000174498ENST00000327987p.A724Ac.2172C>TSubstitution - coding silent
HILPDAENSG00000135245ENST00000257696p.L9Lc.27G>ASubstitution - coding silent
MLLT4ENSG00000130396ENST00000366806p.S1039Sc.3117G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.A9597Vc.28790C>TSubstitution - Missense
ENST00000382701p.V281Vc.843G>TSubstitution - coding silent
ENST00000405167p.A1662Tc.4984G>ASubstitution - Missense
INHAENSG00000123999ENST00000243786p.L151Lc.453G>CSubstitution - coding silent
ZNF682ENSG00000197124ENST00000397165p.R473fs*11c.1419_1420delAGDeletion - Frameshift
BEND3ENSG00000178409ENST00000369042p.V730Lc.2188G>CSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.T39Tc.117C>GSubstitution - coding silent
TMEM173ENSG00000184584ENST00000330794p.L170Lc.510G>CSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
CYP21A2ENSG00000231852ENST00000418967p.E137Vc.410A>TSubstitution - Missense
TACC3ENSG00000013810ENST00000313288p.E506Kc.1516G>ASubstitution - Missense
RAPGEF4ENSG00000091428ENST00000264111p.?c.2647-3C>TUnknown
AQP7ENSG00000165269ENST00000539936p.F76Fc.228C>TSubstitution - coding silent
PCDH11XENSG00000102290ENST00000361724p.V1003Vc.3009A>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.A5733Ac.17199C>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.R2848Hc.8543G>ASubstitution - Missense
PITRM1ENSG00000107959ENST00000451104p.D842Nc.2524G>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.C266Sc.796T>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.?c.19551+10C>AUnknown
NCKAP5LENSG00000167566ENST00000335999p.?c.2113+5G>AUnknown
GANABENSG00000089597ENST00000346178p.Q68Rc.203A>GSubstitution - Missense
C10orf85ENSG00000177234ENST00000369071p.S22Fc.65C>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.G4578Dc.13733G>ASubstitution - Missense
LEPRE1ENSG00000117385ENST00000296388p.F109Fc.327C>TSubstitution - coding silent
DYNC2H1ENSG00000187240ENST00000398093p.S111Ac.331T>GSubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.A185Tc.553G>ASubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.I269Ic.807C>ASubstitution - coding silent
ENST00000300671p.D284Nc.850G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R7259Cc.21775C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.M9240Vc.27718A>GSubstitution - Missense
EIF2B4ENSG00000115211ENST00000347454p.A316Gc.947C>GSubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.E990Ec.2970G>ASubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.A152Tc.454G>ASubstitution - Missense
IDO2ENSG00000188676ENST00000502986p.?c.706+1G>TUnknown
IL17REENSG00000163701ENST00000383814p.V329Ac.986T>CSubstitution - Missense
SLC7A6ENSG00000103064ENST00000219343p.A172Vc.515C>TSubstitution - Missense
TTLL8ENSG00000138892ENST00000440475p.G541Gc.1623C>GSubstitution - coding silent
ZNF827ENSG00000151612ENST00000379448p.S928Sc.2784G>ASubstitution - coding silent
ENST00000397266p.G8Wc.22G>TSubstitution - Missense
ASIC3ENSG00000213199ENST00000357922p.P96Pc.288A>GSubstitution - coding silent
NM_002711.2p.L194Sc.581T>CSubstitution - Missense
TRHRENSG00000174417ENST00000518632p.Y103Cc.308A>GSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.S482Sc.1446C>TSubstitution - coding silent
CC2D1AENSG00000132024ENST00000318003p.N690Sc.2069A>GSubstitution - Missense
UPP2ENSG00000007001ENST00000005756p.D227Gc.680A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.V7461Mc.22381G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409088p.F422Ic.1264T>ASubstitution - Missense
TSNAXIP1ENSG00000102904ENST00000388833p.Y143*c.429T>ASubstitution - Nonsense
POTEIENSG00000196834ENST00000451531p.L794Lc.2382G>ASubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.Q747Qc.2241G>ASubstitution - coding silent
ANLNENSG00000011426ENST00000265748p.P318Pc.954A>GSubstitution - coding silent
VPS41ENSG00000006715ENST00000310301p.L153Lc.457C>TSubstitution - coding silent
RPL12ENSG00000197958ENST00000361436p.F5Fc.15C>TSubstitution - coding silent
NLRP9ENSG00000185792ENST00000590200p.S7fs*21c.11_12insTInsertion - Frameshift
RTCAENSG00000137996ENST00000260563p.Q190fs*9c.564_565insAInsertion - Frameshift
OSBPL6ENSG00000079156ENST00000315022p.A836Ac.2508T>ASubstitution - coding silent
RALGAPBENSG00000170471ENST00000397040p.S779Tc.2336G>CSubstitution - Missense
CHST1ENSG00000175264ENST00000308064p.C34fs*84c.99delCDeletion - Frameshift
RASSF9ENSG00000198774ENST00000361228p.T196Sc.587C>GSubstitution - Missense
SPATA20ENSG00000006282ENST00000006658p.?c.125+7G>AUnknown
NOX5ENSG00000255346ENST00000260364p.R447Qc.1340G>ASubstitution - Missense
LRRN4ENSG00000125872ENST00000378858p.Q286Qc.858G>ASubstitution - coding silent
ENST00000545858p.H140delHc.418_420delCACDeletion - In frame
ENST00000505256p.A1332Vc.3995C>TSubstitution - Missense
ENST00000251648p.F94Sc.281T>CSubstitution - Missense
TBC1D3ENSG00000197681ENST00000537432p.T315Tc.945G>ASubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.H1438Hc.4314T>CSubstitution - coding silent
SCGNENSG00000079689ENST00000377961p.K257Kc.771G>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000190611p.A832Ac.2496T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.V17998Ic.53992G>ASubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.?c.2788-6T>AUnknown
MYH1ENSG00000109061ENST00000226207p.?c.1898-1G>CUnknown
SENP5ENSG00000119231ENST00000323460p.T384delTc.1150_1152delACCDeletion - In frame
CCNB3ENSG00000147082ENST00000376042p.R1266Hc.3797G>ASubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.L55Fc.163C>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.?c.3201+3G>AUnknown
ENST00000301171p.F107Yc.320T>ASubstitution - Missense
ZNF391ENSG00000124613ENST00000244576p.K222Nc.666A>CSubstitution - Missense
OR10H4ENSG00000176231ENST00000322107p.I8Mc.24C>GSubstitution - Missense
NCOA4ENSG00000138293ENST00000374082p.Q270Qc.810A>GSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.E1474Qc.4420G>CSubstitution - Missense
BMP2KENSG00000138756ENST00000335016p.E1148Kc.3442G>ASubstitution - Missense
RPUSD4ENSG00000165526ENST00000298317p.T39Mc.116C>TSubstitution - Missense
NKX6-2ENSG00000148826ENST00000368592p.S184Sc.552G>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.A1322Ac.3966G>ASubstitution - coding silent
FSD2ENSG00000186628ENST00000334574p.R462Cc.1384C>TSubstitution - Missense
COPAENSG00000122218ENST00000241704p.A792Pc.2374G>CSubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.D260Dc.780T>CSubstitution - coding silent
DENND2CENSG00000175984ENST00000393276p.?c.944-4T>CUnknown
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
PKLRENSG00000143627ENST00000342741p.V269Fc.805G>TSubstitution - Missense
TTC8ENSG00000165533ENST00000380656p.G133Ac.398G>CSubstitution - Missense
DIS3LENSG00000166938ENST00000319194p.R224Rc.672A>GSubstitution - coding silent
NM_003685.1p.G246Gc.738C>ASubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.G2384Sc.7150G>ASubstitution - Missense
DSC1ENSG00000134765ENST00000257197p.Q42Hc.126G>CSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.N783Kc.2349T>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.V13766Mc.41296G>ASubstitution - Missense
SEC13ENSG00000157020ENST00000350697p.T133Ic.398C>TSubstitution - Missense
C2orf53ENSG00000186143ENST00000335524p.T353Ic.1058C>TSubstitution - Missense
XM_372202.2p.A247Sc.739G>TSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.K890Rc.2669A>GSubstitution - Missense
NEFHENSG00000100285ENST00000310624p.K749Kc.2247G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.M5634Tc.16901T>CSubstitution - Missense
ENST00000237275_v68p.R147Qc.440G>ASubstitution - Missense
PPARGENSG00000132170ENST00000287820p.S186fs*2c.556_557insAInsertion - Frameshift
PCDH11YENSG00000099715ENST00000362095p.V804Mc.2410G>ASubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.A492Ac.1476G>ASubstitution - coding silent
FAM83DENSG00000101447ENST00000217429p.P51Pc.153G>ASubstitution - coding silent
OR2F2ENSG00000221910ENST00000408955p.V71Vc.213C>ASubstitution - coding silent
HLA-DRAENSG00000204287ENST00000395388p.W193Rc.577T>CSubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.R253fs*>188c.756_757insGInsertion - Frameshift
DENND2CENSG00000175984ENST00000393274p.?c.944-4T>CUnknown
OR5D13ENSG00000198877ENST00000361760p.S190Sc.570C>ASubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.T27Pc.79A>CSubstitution - Missense
PAMENSG00000145730ENST00000379787p.H104Hc.312T>CSubstitution - coding silent
FILIP1ENSG00000118407ENST00000393004p.?c.629+6G>CUnknown
PDE10AENSG00000112541ENST00000539869p.A583Ac.1749C>TSubstitution - coding silent
MEGF10ENSG00000145794ENST00000274473p.C587Yc.1760G>ASubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.D368Yc.1102G>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.L660Pc.1979T>CSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.T662Ic.1985C>TSubstitution - Missense
MIIPENSG00000116691ENST00000235332p.V342fs*4c.1022_1023insTInsertion - Frameshift
ALG9ENSG00000086848ENST00000531154p.?c.811+4G>AUnknown
NM_004397.3p.N278Sc.833A>GSubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.T145Pc.433A>CSubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.C688Sc.2063G>CSubstitution - Missense
TEKT4ENSG00000163060ENST00000295201p.?c.1092-12_1096>16Unknown
OXTENSG00000101405ENST00000217386p.*126fs?c.377delGDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.A9530Vc.28589C>TSubstitution - Missense
RAD51AP2ENSG00000214842ENST00000399080p.P119Sc.355C>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000425967p.G105Cc.313G>TSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.F422Ic.1264T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.M5634Tc.16901T>CSubstitution - Missense
USP37ENSG00000135913ENST00000258399p.R420Kc.1259G>ASubstitution - Missense
RSPO3ENSG00000146374ENST00000368317p.G226Gc.678A>GSubstitution - coding silent
COL15A1ENSG00000204291ENST00000375001p.?c.3403-1G>AUnknown
KLHL32ENSG00000186231ENST00000447886p.G123_Q126delGLPQc.367_378del12Deletion - In frame
SIPA1L3ENSG00000105738ENST00000222345p.M113Ic.339G>ASubstitution - Missense
ASIC3ENSG00000213199ENST00000349064p.P96Pc.288A>GSubstitution - coding silent
NM_207305.1p.R253fs*230c.756_757insGInsertion - Frameshift
KIAA0368ENSG00000136813ENST00000338205p.S192Sc.576A>GSubstitution - coding silent
CYP39A1ENSG00000146233ENST00000275016p.R389Hc.1166G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R3239Qc.9716G>ASubstitution - Missense
ENST00000318333p.P22Pc.66T>GSubstitution - coding silent
SU_OBSCN.1p.?c.19161+10C>AUnknown
FADS1ENSG00000149485ENST00000350997p.S94Cc.281C>GSubstitution - Missense
SPDYCENSG00000204710ENST00000377185p.P287Hc.860C>ASubstitution - Missense
HECTD3ENSG00000126107ENST00000372172p.N113Tc.338A>CSubstitution - Missense
ANGPTL5ENSG00000187151ENST00000334289p.N366fs*8c.1092_1093insAInsertion - Frameshift
ENST00000358469p.D196Dc.588C>TSubstitution - coding silent
ZNF16ENSG00000170631ENST00000394909p.E87Dc.261A>CSubstitution - Missense
ENST00000356127p.V13766Mc.41296G>ASubstitution - Missense
NM_003319p.R7067Cc.21199C>TSubstitution - Missense
FPR1ENSG00000171051ENST00000304748p.R238Hc.713G>ASubstitution - Missense
NLRP9ENSG00000185792ENST00000332836p.S7fs*21c.11_12insTInsertion - Frameshift
ENST00000354247p.A72Gc.215C>GSubstitution - Missense
ULK4ENSG00000168038ENST00000301831p.K216Ec.646A>GSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.S662*c.1985C>GSubstitution - Nonsense
MAP3K4ENSG00000085511ENST00000392142p.S1219Nc.3656G>ASubstitution - Missense
NUCB1ENSG00000104805ENST00000263273p.Y342Yc.1026C>TSubstitution - coding silent
ACVR1CENSG00000123612ENST00000243349p.I95Ic.285A>TSubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000355771p.R284Cc.850C>TSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.T196Sc.587C>GSubstitution - Missense
GANABENSG00000089597ENST00000356638p.Q68Rc.203A>GSubstitution - Missense
MAP3K11ENSG00000173327ENST00000309100p.D596Dc.1788C>TSubstitution - coding silent
LEPRE1ENSG00000117385ENST00000236040p.F109Fc.327C>TSubstitution - coding silent
TMEM52ENSG00000178821ENST00000310991p.L201Ic.601C>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000338347p.V533Mc.1597G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.G1516Gc.4548C>ASubstitution - coding silent
CEP112ENSG00000154240ENST00000535342p.E288Dc.864A>TSubstitution - Missense
SLC39A4ENSG00000147804ENST00000276833p.T195Mc.584C>TSubstitution - Missense
MTERFENSG00000127989ENST00000351870p.F97Ic.289T>ASubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.V397Ac.1190T>CSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.V84Vc.252G>TSubstitution - coding silent
HPS1ENSG00000107521ENST00000338546p.A167Ac.501C>TSubstitution - coding silent
PITRM1ENSG00000107959ENST00000455371p.D121Nc.361G>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000536985p.F67Lc.201C>ASubstitution - Missense
LDB3ENSG00000122367ENST00000458213p.T317Ic.950C>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.S6Lc.17C>TSubstitution - Missense
OR5D18ENSG00000186119ENST00000333976p.T280Tc.840C>TSubstitution - coding silent
LRRC55ENSG00000183908ENST00000497933p.G78Dc.233G>ASubstitution - Missense
ENST00000457912_v65p.V502Vc.1506G>ASubstitution - coding silent
SMTNL1ENSG00000214872ENST00000457912p.V502Vc.1506G>ASubstitution - coding silent
TOR3AENSG00000186283ENST00000447595p.N166Kc.498T>ASubstitution - Missense
PBX1ENSG00000185630ENST00000540236p.?c.702-5C>AUnknown
TMEM52ENSG00000178821ENST00000378602p.L186Ic.556C>ASubstitution - Missense
MROH7ENSG00000184313ENST00000339553p.T239Tc.717C>TSubstitution - coding silent
EML5ENSG00000165521ENST00000352093p.G929Rc.2785G>ASubstitution - Missense
TTC8ENSG00000165533ENST00000338104p.G123Ac.368G>CSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.G1112Ec.3335G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.P1041Hc.3122C>ASubstitution - Missense
RPTORENSG00000141564ENST00000537330p.F78Sc.233T>CSubstitution - Missense
PAF1ENSG00000006712ENST00000595564p.L395Lc.1185G>CSubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.K1699Tc.5096A>CSubstitution - Missense
GLSENSG00000115419ENST00000338435p.A537Ec.1610C>ASubstitution - Missense
ENST00000398800_v70p.F825Lc.2473T>CSubstitution - Missense
CLASP2ENSG00000163539ENST00000480013p.S938Sc.2814C>TSubstitution - coding silent
ENST00000264735_v70p.V150Lc.448G>CSubstitution - Missense
IL17REENSG00000163701ENST00000421412p.V362Ac.1085T>CSubstitution - Missense
ASXL1ENSG00000171456ENST00000306058p.G641fs*12c.1919_1920insGInsertion - Frameshift
ZACNENSG00000186919ENST00000392503p.?c.98-3_98-2delcaUnknown
ENST00000378024_v70p.D4610Nc.13828G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.A6050Ac.18150C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.M5563Tc.16688T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.M5246Tc.15737T>CSubstitution - Missense
TRDNENSG00000186439ENST00000542443p.L32Lc.94C>TSubstitution - coding silent
MCM3ENSG00000112118ENST00000596288p.V129Vc.387G>TSubstitution - coding silent
LMBR1ENSG00000105983ENST00000354505p.L213Lc.639T>GSubstitution - coding silent
FGFR1ENSG00000077782ENST00000341462p.G195Cc.583G>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.V1003Vc.3009A>GSubstitution - coding silent
ADARB1ENSG00000197381ENST00000389863p.A186Vc.557C>TSubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.G313Sc.937G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.Q1531Pc.4592A>CSubstitution - Missense
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
TBRG1ENSG00000154144ENST00000441174p.P288Pc.864A>GSubstitution - coding silent
SLCO1B3ENSG00000111700ENST00000381545p.I196Vc.586A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S1176Sc.3528A>GSubstitution - coding silent
SCGB2A1ENSG00000124939ENST00000244930p.L7Lc.21C>GSubstitution - coding silent
SRGNENSG00000122862ENST00000242465p.S46Fc.137C>TSubstitution - Missense
NCSTNENSG00000162736ENST00000294785p.G133Gc.399C>ASubstitution - coding silent
PLA2G4EENSG00000188089ENST00000413860p.V603Mc.1807G>ASubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.L1588Lc.4764G>ASubstitution - coding silent
C14orf159ENSG00000133943ENST00000518665p.G137Rc.409G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.Q547Rc.1640A>GSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.N718Kc.2154C>GSubstitution - Missense
IL10RBENSG00000243646ENST00000290200p.I103Ic.309C>TSubstitution - coding silent
PEX1ENSG00000127980ENST00000248633p.?c.3637-5T>CUnknown
PDE11AENSG00000128655ENST00000286063p.P495Lc.1484C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.L2371Vc.7111C>GSubstitution - Missense
LRRTM1ENSG00000162951ENST00000295057p.L55Fc.163C>TSubstitution - Missense
UBR2ENSG00000024048ENST00000372903p.D353Dc.1059C>TSubstitution - coding silent
NSUN5ENSG00000130305ENST00000252594p.P291Pc.873C>ASubstitution - coding silent
COMPENSG00000105664ENST00000222271p.A624Gc.1871C>GSubstitution - Missense
RSPO3ENSG00000146374ENST00000356698p.G226Gc.678A>GSubstitution - coding silent
C9orf116ENSG00000160345ENST00000429260p.V30Vc.90G>ASubstitution - coding silent
UBR5ENSG00000104517ENST00000520539p.R1907Hc.5720G>ASubstitution - Missense
FKTNENSG00000106692ENST00000223528p.A285Gc.854C>GSubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.S370Sc.1110A>GSubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.R275Qc.824G>ASubstitution - Missense
CCL4L1ENSG00000205020ENST00000444414p.D29Vc.86A>TSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.R412Kc.1235G>ASubstitution - Missense
CA10ENSG00000154975ENST00000340813p.S8Sc.24A>GSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.Q747Qc.2241G>ASubstitution - coding silent
KCNMB3ENSG00000171121ENST00000314235p.R249Kc.746G>ASubstitution - Missense
KCNMB3ENSG00000171121ENST00000349697p.R247Kc.740G>ASubstitution - Missense
KCNMB3ENSG00000171121ENST00000392685p.R245Kc.734G>ASubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.S540Sc.1620C>TSubstitution - coding silent
C9orf116ENSG00000160345ENST00000371791p.V30Vc.90G>ASubstitution - coding silent
NXNL2ENSG00000130045ENST00000375854p.V109Ic.325G>ASubstitution - Missense
NM_144685p.E325Ac.974A>CSubstitution - Missense
CCDC97ENSG00000142039ENST00000269967p.E249Dc.747G>TSubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.H272Yc.814C>TSubstitution - Missense
OFD1ENSG00000046651ENST00000398395p.H272Yc.814C>TSubstitution - Missense
LARP1ENSG00000155506ENST00000336314p.I566Ic.1698C>TSubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.L34_L35insPLPLc.74_75ins12Insertion - In frame
ENST00000319379p.R4275Kc.12824G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.N3929Nc.11787C>TSubstitution - coding silent
CHTF8ENSG00000168802ENST00000306585p.P442Sc.1324C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.S1689Fc.5066C>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.N890Nc.2670C>TSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.S629Fc.1886C>TSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.K380Mc.1139A>TSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000303665p.K380Mc.1139A>TSubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.H287Lc.860A>TSubstitution - Missense
DMRTC2ENSG00000142025ENST00000269945p.C344Rc.1030T>CSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.V896Ic.2686G>ASubstitution - Missense
PSG9ENSG00000183668ENST00000270077p.P416Lc.1247C>TSubstitution - Missense
PSG9ENSG00000183668ENST00000270077p.L204Ic.610C>ASubstitution - Missense
PSG3ENSG00000221826ENST00000327495p.C9Yc.26G>ASubstitution - Missense
LIPEENSG00000079435ENST00000244289p.H290Hc.870C>TSubstitution - coding silent
ZNF225ENSG00000256294ENST00000262894p.L219Lc.655C>TSubstitution - coding silent
RIF1ENSG00000080345ENST00000444746p.E1562delEc.4679_4681delAAGDeletion - In frame
LY75ENSG00000054219ENST00000263636p.R676Qc.2027G>ASubstitution - Missense
UPP2ENSG00000007001ENST00000409859p.D284Gc.851A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.?c.3962-3C>AUnknown
DPP6ENSG00000130226ENST00000332007p.S420Sc.1260C>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000404039p.S418Sc.1254C>TSubstitution - coding silent
LMBR1ENSG00000105983ENST00000353442p.L213Lc.639T>GSubstitution - coding silent
KCNH7ENSG00000184611ENST00000328032p.S296Sc.888C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000409728p.?c.661+9C>AUnknown
ZNF618ENSG00000157657ENST00000374126p.P306Lc.917C>TSubstitution - Missense
MRRFENSG00000148187ENST00000344641p.M1Ic.3G>CSubstitution - Missense
MRRFENSG00000148187ENST00000546115p.M1Ic.3G>CSubstitution - Missense
LCN2ENSG00000148346ENST00000277480p.M71Ic.213G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.S1061Sc.3183T>CSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.S1061Sc.3183T>CSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.P2168Ac.6502C>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.P2168Ac.6502C>GSubstitution - Missense
VPS8ENSG00000156931ENST00000437079p.R1268Cc.3802C>TSubstitution - Missense
TRAPPC11ENSG00000168538ENST00000334690p.V895Ac.2684T>CSubstitution - Missense
VEGFCENSG00000150630ENST00000280193p.H92Yc.274C>TSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.R979Hc.2936G>ASubstitution - Missense
NM_052909.1p.R170Hc.509G>ASubstitution - Missense
KIF2AENSG00000068796ENST00000407818p.R723Rc.2169T>CSubstitution - coding silent
NM_004520.1p.R658Rc.1974T>CSubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.T1907Tc.5721G>ASubstitution - coding silent
GPR111ENSG00000164393ENST00000398742p.S607Pc.1819T>CSubstitution - Missense
GPR111ENSG00000164393ENST00000296862p.S675Pc.2023T>CSubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.R1268Cc.3802C>TSubstitution - Missense
GFRALENSG00000187871ENST00000340465p.N94Hc.280A>CSubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.R1039Hc.3116G>ASubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.?c.1736+4C>TUnknown
KIAA0195ENSG00000177728ENST00000314256p.I1326Vc.3976A>GSubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.S1151Sc.3453C>TSubstitution - coding silent
NM_017886p.K216Ec.646A>GSubstitution - Missense
PAMENSG00000145730ENST00000455264p.H724Hc.2172T>CSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.S680*c.2039C>GSubstitution - Nonsense
LRRTM4ENSG00000176204ENST00000409911p.F423Ic.1267T>ASubstitution - Missense
LOXL3ENSG00000115318ENST00000264094p.?c.1093+9G>AUnknown
IL20RAENSG00000016402ENST00000316649p.A439Ac.1317A>GSubstitution - coding silent
ZC2HC1BENSG00000118491ENST00000237275p.R51Qc.152G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A6121Ac.18363C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.A6121Ac.18363C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.M5563Tc.16688T>CSubstitution - Missense
PDE10AENSG00000112541ENST00000366882p.A573Ac.1719C>TSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.S1219Nc.3656G>ASubstitution - Missense
ACOT9ENSG00000123130ENST00000336430p.S375Sc.1125T>CSubstitution - coding silent
PQLC3ENSG00000162976ENST00000295083p.?c.476-5T>CUnknown
ZNF142ENSG00000115568ENST00000411696p.P1012Sc.3034C>TSubstitution - Missense
ENST00000396788p.P849Sc.2545C>TSubstitution - Missense
UGT1A4ENSG00000244474ENST00000373409p.N119Nc.357T>CSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.Y286Cc.857A>GSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.Y279Cc.836A>GSubstitution - Missense
CCT4ENSG00000115484ENST00000394440p.V390Fc.1168G>TSubstitution - Missense
PARP15ENSG00000173200ENST00000310366p.N12Sc.35A>GSubstitution - Missense
TTLL8ENSG00000138892ENST00000433387p.G577Gc.1731C>GSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000359139p.G346Gc.1038C>TSubstitution - coding silent
TAF9ENSG00000085231ENST00000380822p.D66Gc.197A>GSubstitution - Missense
TAF9ENSG00000085231ENST00000380818p.D63Gc.188A>GSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.D353Dc.1059C>TSubstitution - coding silent
NSUN5ENSG00000130305ENST00000438747p.P291Pc.873C>ASubstitution - coding silent
MLLT3ENSG00000171843ENST00000380338p.E205*c.613G>TSubstitution - Nonsense
VCX3AENSG00000169059ENST00000381089p.V160Ec.479T>ASubstitution - Missense
ISYNA1ENSG00000105655ENST00000338128p.R439Hc.1316G>ASubstitution - Missense
FOSBENSG00000125740ENST00000353609p.S334Sc.1002C>TSubstitution - coding silent
CYTH2ENSG00000105443ENST00000452733p.H255Dc.763C>GSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.P1051Pc.3153C>ASubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.P2549Pc.7647T>CSubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000392953p.R355Cc.1063C>TSubstitution - Missense
ENST00000451531_v68p.L794Lc.2382G>ASubstitution - coding silent
TUBA3EENSG00000152086ENST00000312988p.A273Tc.817G>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.S549Ac.1645T>GSubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.S526Ac.1576T>GSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.Y2231Yc.6693T>CSubstitution - coding silent
NM_006596.3p.S2069Fc.6206C>TSubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.V126Ic.376G>ASubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.G926Gc.2778A>GSubstitution - coding silent
FHDC1ENSG00000137460ENST00000260008p.V836Ic.2506G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.P2842Pc.8526G>ASubstitution - coding silent
DDX46ENSG00000145833ENST00000354283p.E763Ec.2289G>ASubstitution - coding silent
ARSKENSG00000164291ENST00000380009p.H236Rc.707A>GSubstitution - Missense
PCDH11YENSG00000099715ENST00000333703p.V793Mc.2377G>ASubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.V804Mc.2410G>ASubstitution - Missense
ENST00000330758p.T74Ac.220A>GSubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.R544Qc.1631G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.V1003Vc.3009A>GSubstitution - coding silent
RTTNENSG00000176225ENST00000255674p.E1309Ec.3927G>ASubstitution - coding silent
L3MBTL4ENSG00000154655ENST00000400105p.R311Kc.932G>ASubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.G421Gc.1263C>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000357489p.C813Sc.2438G>CSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.G946Ac.2837G>CSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.G946Ac.2837G>CSubstitution - Missense
LGSNENSG00000146166ENST00000485906p.P38Pc.114A>TSubstitution - coding silent
RIOK1ENSG00000124784ENST00000379834p.T259Ic.776C>TSubstitution - Missense
SHQ1ENSG00000144736ENST00000325599p.P494Lc.1481C>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.L217delLc.641_643delTTCDeletion - In frame
UGT2A1ENSG00000173610ENST00000503640p.I256Ic.768C>TSubstitution - coding silent
BRD7ENSG00000166164ENST00000394688p.Q515*c.1543C>TSubstitution - Nonsense
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.S1031Sc.3093A>GSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.A1047Tc.3139G>ASubstitution - Missense
ENST00000273600p.A1047Tc.3139G>ASubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.N718Kc.2154C>GSubstitution - Missense
MLLT4ENSG00000130396ENST00000392108p.S1039Sc.3117G>ASubstitution - coding silent
TTLL2ENSG00000120440ENST00000239587p.I249Fc.745A>TSubstitution - Missense
ENST00000540262p.?c.875-5T>GUnknown
EPPK1ENSG00000227184ENST00000525985p.A1882Ac.5646A>TSubstitution - coding silent
ZC3H3ENSG00000014164ENST00000262577p.S390Sc.1170C>ASubstitution - coding silent
SLC39A4ENSG00000147804ENST00000301305p.T220Mc.659C>TSubstitution - Missense
NAT2ENSG00000156006ENST00000286479p.S287Sc.861C>TSubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.L900Lc.2700G>CSubstitution - coding silent
ENST00000217299p.T558Mc.1673C>TSubstitution - Missense
NM_007023.1p.?c.2650-3C>TUnknown
DCAF17ENSG00000115827ENST00000375255p.E142Ec.426G>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000392505p.A857Ac.2571T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.A15902Vc.47705C>TSubstitution - Missense
NM_003319p.A9405Vc.28214C>TSubstitution - Missense
ENST00000356127p.V17996Ic.53986G>ASubstitution - Missense
NM_003319p.V11501Ic.34501G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.V7394Mc.22180G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R13564Cc.40690C>TSubstitution - Missense
ENST00000356127p.M9240Vc.27718A>GSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.P932Lc.2795C>TSubstitution - Missense
OTOFENSG00000115155ENST00000402415p.L1305Lc.3915C>TSubstitution - coding silent
ITGADENSG00000156886ENST00000389202p.G415Rc.1243G>CSubstitution - Missense
ZNF765ENSG00000196417ENST00000396408p.S189Yc.566C>ASubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.R79Hc.236G>ASubstitution - Missense
NTSR1ENSG00000101188ENST00000370501p.P384Lc.1151C>TSubstitution - Missense
SLCO4A1ENSG00000101187ENST00000370507p.P170Pc.510G>ASubstitution - coding silent
RTEL1ENSG00000258366ENST00000370018p.E966Ec.2898G>ASubstitution - coding silent
RTEL1ENSG00000258366ENST00000318100p.E966Ec.2898G>ASubstitution - coding silent
ZNF512ENSG00000243943ENST00000355467p.R382Lc.1145G>TSubstitution - Missense
SUPT7LENSG00000119760ENST00000337768p.K274Tc.821A>CSubstitution - Missense
SLC30A6ENSG00000152683ENST00000282587p.P188Lc.563C>TSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.?c.3528-7C>AUnknown
PLB1ENSG00000163803ENST00000422425p.?c.3495-7C>AUnknown
PLB1ENSG00000163803ENST00000327757p.?c.1281-5T>GUnknown
PLB1ENSG00000163803ENST00000422425p.?c.1314-5T>GUnknown
MUC4ENSG00000145113ENST00000463781p.A1662Tc.4984G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1661Dc.4981C>GSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.D597Nc.1789G>ASubstitution - Missense
IL17REENSG00000163701ENST00000454190p.V329Ac.986T>CSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.Q2683Hc.8049G>CSubstitution - Missense
ENST00000265148.1p.Q2646Hc.7938G>CSubstitution - Missense
SCD5ENSG00000145284ENST00000282709p.A122Gc.365C>GSubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.G186Cc.556G>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.G194Cc.580G>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.G194Cc.580G>TSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.S409Gc.1225A>GSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000316985p.S409Gc.1225A>GSubstitution - Missense
IDO2ENSG00000188676ENST00000389060p.?c.667+1G>TUnknown
ADAM18ENSG00000168619ENST00000265707p.?c.1631+7A>GUnknown
FGFR1ENSG00000077782ENST00000447712p.G194Cc.580G>TSubstitution - Missense
MAOBENSG00000069535ENST00000378069p.M1Kc.2T>ASubstitution - Missense
XM_497119.1p.G1059Rc.3175G>ASubstitution - Missense
ZNF71ENSG00000197951ENST00000328070p.A138Vc.413C>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.E603Ec.1809A>GSubstitution - coding silent
NEURL4ENSG00000215041ENST00000399464p.R1041Hc.3122G>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000440491p.A606Ac.1818G>ASubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.Q1334_R1335insQQc.4001_4002insGCAGCAInsertion - In frame
ENST00000371233p.M66Ic.198G>ASubstitution - Missense
DAB1ENSG00000173406ENST00000371231p.M66Ic.198G>ASubstitution - Missense
ROR1ENSG00000185483ENST00000371079p.L259Lc.777G>CSubstitution - coding silent
PER3ENSG00000049246ENST00000361923p.A619Ac.1857G>ASubstitution - coding silent
C1orf173ENSG00000178965ENST00000326665p.E422*c.1264G>TSubstitution - Nonsense
FPGTENSG00000254685ENST00000370898p.M150Vc.448A>GSubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.P4Lc.11C>TSubstitution - Missense
HIF1AENSG00000100644ENST00000337138p.G726Dc.2177G>ASubstitution - Missense
BTBD7ENSG00000011114ENST00000334746p.A983Pc.2947G>CSubstitution - Missense
ENST00000417249p.P699Lc.2096C>TSubstitution - Missense
EML5ENSG00000165521ENST00000554922p.G967Rc.2899G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.K1144*c.3430A>TSubstitution - Nonsense
VPS13CENSG00000129003ENST00000395896p.K1144*c.3430A>TSubstitution - Nonsense
RPL4ENSG00000174444ENST00000307961p.G382Rc.1144G>CSubstitution - Missense
DIS3LENSG00000166938ENST00000319212p.R307Rc.921A>GSubstitution - coding silent
GBP2ENSG00000162645ENST00000370466p.?c.1362+1G>CUnknown
CCDC18ENSG00000122483ENST00000334652p.R483*c.1447C>TSubstitution - Nonsense
H6PDENSG00000049239ENST00000377403p.P536Lc.1607C>TSubstitution - Missense
ENST00000375815p.L1090Pc.3269T>CSubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.P940Sc.2818C>TSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.S330Sc.990T>CSubstitution - coding silent
CCDC78ENSG00000162004ENST00000293889p.E82Dc.246A>CSubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.P262Pc.786G>ASubstitution - coding silent
TMEM92ENSG00000167105ENST00000300433p.?c.95+10G>AUnknown
ACSF2ENSG00000167107ENST00000300441p.T358Mc.1073C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E388Dc.1164A>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S2595Rc.7785C>ASubstitution - Missense
CST8ENSG00000125815ENST00000246012p.K26Nc.78G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G3752Gc.11256T>CSubstitution - coding silent
ENST00000356127p.G3752Gc.11256T>CSubstitution - coding silent
CCDC141ENSG00000163492ENST00000420890p.?c.103-4T>AUnknown
CCDC141ENSG00000163492ENST00000409284p.?c.103-4T>AUnknown
ZDBF2ENSG00000204186ENST00000374423p.Q547Rc.1640A>GSubstitution - Missense
GLSENSG00000115419ENST00000320717p.A537Ec.1610C>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.T345Pc.1033A>CSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.K2017Tc.6050A>CSubstitution - Missense
ASPHENSG00000198363ENST00000379454p.E200Kc.598G>ASubstitution - Missense
TCEAL3ENSG00000196507ENST00000372628p.G193Dc.578G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.Y2401Yc.7203C>TSubstitution - coding silent
FLCNENSG00000154803ENST00000389169p.?c.619-1G>AUnknown
ITGB4ENSG00000132470ENST00000200181p.N1229Dc.3685A>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.N1229Dc.3685A>GSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.H233delHc.697_699delCACDeletion - In frame
EDEM2ENSG00000088298ENST00000374492p.K509Nc.1527A>CSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.D766Dc.2298C>TSubstitution - coding silent
FAM65CENSG00000042062ENST00000327979p.K209Rc.626A>GSubstitution - Missense
ENST00000370795p.P78Pc.234C>TSubstitution - coding silent
C20orf196ENSG00000171984ENST00000303142p.S40Rc.120C>GSubstitution - Missense
CCL21ENSG00000137077ENST00000259607p.?c.371+6G>AUnknown
SPATA31A6ENSG00000185775ENST00000332857p.C240fs*115c.717delCDeletion - Frameshift
ACOX2ENSG00000168306ENST00000302819p.S431Sc.1293G>ASubstitution - coding silent
GABBR2ENSG00000136928ENST00000259455p.Y531Dc.1591T>GSubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.E288Dc.864A>TSubstitution - Missense
CCDC144NLENSG00000205212ENST00000327925p.R89Lc.266G>TSubstitution - Missense
AZI1ENSG00000141577ENST00000450824p.A494Tc.1480G>ASubstitution - Missense
AZI1ENSG00000141577ENST00000374782p.A494Tc.1480G>ASubstitution - Missense
RPTORENSG00000141564ENST00000306801p.F263Sc.788T>CSubstitution - Missense
SLC16A3ENSG00000141526ENST00000392341p.A37Ac.111C>TSubstitution - coding silent
SS18ENSG00000141380ENST00000415083p.Q81*c.241C>TSubstitution - Nonsense
NM_015461.1p.N1206Nc.3618T>CSubstitution - coding silent
DSC1ENSG00000134765ENST00000257198p.Q42Hc.126G>CSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.R1404Qc.4211G>ASubstitution - Missense
OR4D9ENSG00000172742ENST00000329328p.D70Dc.210C>TSubstitution - coding silent
SYT7ENSG00000011347ENST00000263846p.S103Sc.309C>TSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.D4610Nc.13828G>ASubstitution - Missense
BEST1ENSG00000167995ENST00000449131p.E465Ac.1394A>CSubstitution - Missense
BEST1ENSG00000167995ENST00000378043p.E525Ac.1574A>CSubstitution - Missense
ENST00000350997_v71p.S151Cc.452C>GSubstitution - Missense
ZDHHC24ENSG00000174165ENST00000310442p.R114Rc.342C>TSubstitution - coding silent
PLXNC1ENSG00000136040ENST00000258526p.W1188Lc.3563G>TSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.E1188Ec.3564A>GSubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.E1212Ec.3636A>GSubstitution - coding silent
HPS1ENSG00000107521ENST00000325103p.A167Ac.501C>TSubstitution - coding silent
CNNM2ENSG00000148842ENST00000369878p.A740Ac.2220A>GSubstitution - coding silent
NT5C2ENSG00000076685ENST00000343289p.L347Fc.1041G>TSubstitution - Missense
ZNF143ENSG00000166478ENST00000396602p.A567Gc.1700C>GSubstitution - Missense
TMEM54ENSG00000121900ENST00000373463p.V46Mc.136G>ASubstitution - Missense
NCDNENSG00000020129ENST00000373243p.T155Tc.465C>TSubstitution - coding silent
NCDNENSG00000020129ENST00000373253p.T138Tc.414C>TSubstitution - coding silent
ZMYM1ENSG00000197056ENST00000373330p.A51Tc.151G>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368016p.K8Kc.24G>ASubstitution - coding silent
CD84ENSG00000066294ENST00000311224p.?c.812-1G>CUnknown
COPAENSG00000122218ENST00000368069p.A801Pc.2401G>CSubstitution - Missense
PBX1ENSG00000185630ENST00000420696p.?c.702-5C>AUnknown
TOR3AENSG00000186283ENST00000367627p.N274Kc.822T>ASubstitution - Missense
QSOX1ENSG00000116260ENST00000367602p.D376Dc.1128C>TSubstitution - coding silent
DDX6ENSG00000110367ENST00000264018p.N289Sc.866A>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1991Nc.5972C>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1991Nc.5972C>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.H1953Yc.5857C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.H1953Yc.5857C>TSubstitution - Missense
MMP7ENSG00000137673ENST00000260227p.I79Tc.236T>CSubstitution - Missense
KIAA1377ENSG00000110318ENST00000263468p.S367Lc.1100C>TSubstitution - Missense
ENST00000428306_v65p.?c.2002+4G>AUnknown
ENST00000428306p.?c.1999+4G>AUnknown
PPP2R1BENSG00000137713ENST00000311129p.I494Vc.1480A>GSubstitution - Missense
SLC22A18ENSG00000110628ENST00000380574p.?c.966+10C>AUnknown
TAS1R2ENSG00000179002ENST00000375371p.R317Pc.950G>CSubstitution - Missense
KLHDC7AENSG00000179023ENST00000400664p.A442fs*9c.1323delGDeletion - Frameshift
DNAJC1ENSG00000136770ENST00000376980p.L360Lc.1080G>ASubstitution - coding silent
GPR158ENSG00000151025ENST00000376351p.A964Vc.2891C>TSubstitution - Missense
BMI1ENSG00000168283ENST00000376663p.A246Vc.737C>TSubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.F777Fc.2331C>TSubstitution - coding silent
PFKFB3ENSG00000170525ENST00000379775p.F87Lc.261C>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.F87Lc.261C>ASubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.V191Ic.571G>ASubstitution - Missense
SLFNL1ENSG00000171790ENST00000359345p.P355Lc.1064C>TSubstitution - Missense
NM_000036.1p.D227Dc.681T>CSubstitution - coding silent
MIIPENSG00000116691ENST00000235332p.?c.1080+4C>TUnknown
C1orf54ENSG00000118292ENST00000369102p.S120Lc.359C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2412Gc.7236G>ASubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.R342Rc.1026G>ASubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.T239Tc.717C>TSubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.N1185Sc.3554A>GSubstitution - Missense
CERS3ENSG00000154227ENST00000284382p.I270Lc.808A>TSubstitution - Missense
OR4M2ENSG00000182974ENST00000332663p.K8Rc.23A>GSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.V839Vc.2517A>GSubstitution - coding silent
PGLYRP3ENSG00000159527ENST00000290722p.?c.377-10C>TUnknown
FLAD1ENSG00000160688ENST00000405236p.S299Sc.897T>CSubstitution - coding silent
SHC1ENSG00000160691ENST00000368453p.T35Pc.103A>CSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.R173Rc.519G>TSubstitution - coding silent
ENST00000331871p.S29Yc.86C>ASubstitution - Missense
CCPG1ENSG00000260916ENST00000310958p.Q638*c.1912C>TSubstitution - Nonsense
ST5ENSG00000166444ENST00000534127p.S407fs*2c.1218_1219insCInsertion - Frameshift
ENST00000298047_v61p.G1516Gc.4548C>ASubstitution - coding silent
TMEM132CENSG00000181234ENST00000435159p.D1042Gc.3125A>GSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.?c.619-1G>AUnknown
ASXL1ENSG00000171456ENST00000375687p.G646fs*12c.1934_1935insGInsertion - Frameshift
TP53ENSG00000141510ENST00000269305p.H233delHc.697_699delCACDeletion - In frame
PRXENSG00000105227ENST00000324001p.P549Pc.1647G>ASubstitution - coding silent
ADARB1ENSG00000197381ENST00000360697p.A186Vc.557C>TSubstitution - Missense
SIRT2ENSG00000068903ENST00000249396p.V233Ic.697G>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.T901Tc.2703G>ASubstitution - coding silent
NM_022740p.T894Tc.2682G>TSubstitution - coding silent
SU_OBSCN.1p.R3010Qc.9029G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.R2410Hc.7229G>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.R747Wc.2239C>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.R747Wc.2239C>TSubstitution - Missense
CPNE5ENSG00000124772ENST00000244751p.E66Kc.196G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R2956Qc.8867G>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.T894Tc.2682G>TSubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.I480Tc.1439T>CSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.R1087Wc.3259C>TSubstitution - Missense
RELNENSG00000189056ENST00000343529p.K939*c.2815A>TSubstitution - Nonsense
SLITRK2ENSG00000185985ENST00000447897p.K252*c.754A>TSubstitution - Nonsense
TXKENSG00000074966ENST00000264316p.I9Mc.27C>GSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.R105Cc.313C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.V3527Mc.10579G>ASubstitution - Missense
NM_133638.1p.R523*c.1567C>TSubstitution - Nonsense
ZNF354BENSG00000178338ENST00000322434p.V19Mc.55G>ASubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.L68Ic.202C>ASubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.G141Dc.422G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.F76Fc.228C>TSubstitution - coding silent
MEGF11ENSG00000157890ENST00000409699p.G430Ec.1289G>ASubstitution - Missense
MEGF11ENSG00000157890ENST00000395625p.G355Ec.1064G>ASubstitution - Missense
INS-IGF2ENSG00000129965ENST00000397270p.R107Qc.320G>ASubstitution - Missense
FAIM3ENSG00000162894ENST00000367091p.K361Nc.1083G>CSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.R874Wc.2620C>TSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.S167Sc.501A>GSubstitution - coding silent
RTCAENSG00000137996ENST00000370128p.Q177fs*9c.525_526insAInsertion - Frameshift
FZD8ENSG00000177283ENST00000374694p.E112Ec.336G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.R1438delRc.4309_4311delAGADeletion - In frame
DLG5ENSG00000151208ENST00000372391p.V196Mc.586G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000429277p.A427Tc.1279G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.A422Tc.1264G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000429277p.T432Ic.1295C>TSubstitution - Missense
HELLSENSG00000119969ENST00000348459p.?c.889-8T>AUnknown
ENST00000371192p.E828*c.2482G>TSubstitution - Nonsense
TBRG1ENSG00000154144ENST00000284290p.P137Pc.411A>GSubstitution - coding silent
NUP98ENSG00000110713ENST00000324932p.P157Pc.471T>CSubstitution - coding silent
CADM3ENSG00000162706ENST00000368124p.L382Lc.1146C>TSubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.?c.483+8G>AUnknown
PPFIA2ENSG00000139220ENST00000549396p.G701Dc.2102G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.?c.17415+10C>AUnknown
GUCY2CENSG00000070019ENST00000261170p.R1021Hc.3062G>ASubstitution - Missense
SLCO1A2ENSG00000084453ENST00000307378p.G254Ec.761G>ASubstitution - Missense
SLCO1A2ENSG00000084453ENST00000390670p.G252Ec.755G>ASubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.R431*c.1291C>TSubstitution - Nonsense
NCKAP5LENSG00000167566ENST00000335999p.?c.3340+5G>AUnknown
TROAPENSG00000135451ENST00000257909p.I595Tc.1784T>CSubstitution - Missense
CHRNA5ENSG00000169684ENST00000299565p.I262Nc.785T>ASubstitution - Missense
PLIN1ENSG00000166819ENST00000300055p.T233Tc.699C>TSubstitution - coding silent
ENST00000328752p.D32Ec.96T>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.A1322Ac.3966G>ASubstitution - coding silent
MMP21ENSG00000154485ENST00000368808p.K487Ec.1459A>GSubstitution - Missense
TRAF3ENSG00000131323ENST00000560371p.K550fs*3c.1648_1649insTInsertion - Frameshift
AHNAK2ENSG00000185567ENST00000333244p.P1171Pc.3513A>CSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.?c.3979-9C>AUnknown
JPH4ENSG00000092051ENST00000356300p.G500Rc.1498G>CSubstitution - Missense


COSMIC

1 mutations reported
1 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
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7577621