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CRO-AP3 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

722 mutations reported
259 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
KCNU1ENSG00000215262ENST00000399881p.T564Mc.1691C>TSubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.F208Sc.623T>CSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.P545fs*42c.1629delCDeletion - Frameshift
PLEKHH1ENSG00000054690ENST00000329153p.P584fs*42c.1746delCDeletion - Frameshift
UACAENSG00000137831ENST00000379983p.L637fs*9c.1908_1909insAInsertion - Frameshift
ANKMY1ENSG00000144504ENST00000391987p.D287Dc.861C>TSubstitution - coding silent
PI4KAENSG00000241973ENST00000572273p.M1108Vc.3322A>GSubstitution - Missense
TET2ENSG00000168769ENST00000380013p.Y1255*c.3765C>ASubstitution - Nonsense
PA2G4ENSG00000170515ENST00000303305p.S81Lc.242C>TSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.P686Ac.2056C>GSubstitution - Missense
ENST00000419043p.H105Yc.313C>TSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.A1029Ac.3087G>ASubstitution - coding silent
XM_290732.4p.A1173Vc.3518C>TSubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.P775Pc.2325G>ASubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.S587Sc.1761C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000311502p.E526Kc.1576G>ASubstitution - Missense
NM_021874.2p.V331Ic.991G>ASubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.V310Ic.928G>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.N1479Nc.4437T>CSubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.C332Fc.995G>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.T7Sc.20C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.T7Sc.20C>GSubstitution - Missense
TTC24ENSG00000187862ENST00000368237p.P484Lc.1451C>TSubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.E261Dc.783A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.P772Pc.2316G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.P721Pc.2163G>ASubstitution - coding silent
LRCH1ENSG00000136141ENST00000389798p.D444Dc.1332T>CSubstitution - coding silent
LRCH1ENSG00000136141ENST00000311191p.D444Dc.1332T>CSubstitution - coding silent
DNAJC3ENSG00000102580ENST00000376795p.D286Gc.857A>GSubstitution - Missense
PPP1CCENSG00000186298ENST00000340766p.S292Sc.876T>GSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000456883p.L1124Lc.3372C>TSubstitution - coding silent
CAPZA3ENSG00000177938ENST00000317658p.T186Mc.557C>TSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.Y547Cc.1640A>GSubstitution - Missense
NPAS4ENSG00000174576ENST00000311034p.T359Ac.1075A>GSubstitution - Missense
LRFN4ENSG00000173621ENST00000309602p.P568Tc.1702C>ASubstitution - Missense
ORAOV1ENSG00000149716ENST00000279147p.G22Gc.66G>CSubstitution - coding silent
STARD10ENSG00000214530ENST00000334805p.L237Pc.710T>CSubstitution - Missense
BIRC2ENSG00000110330ENST00000227758p.G71Cc.211G>TSubstitution - Missense
TYRENSG00000077498ENST00000263321p.P165Sc.493C>TSubstitution - Missense
ENST00000298047_v61p.D2187Vc.6560A>TSubstitution - Missense
TMEM119ENSG00000183160ENST00000392806p.A260Sc.778G>TSubstitution - Missense
TAS2R8ENSG00000121314ENST00000240615p.I85Tc.254T>CSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.V750Mc.2248G>ASubstitution - Missense
PAX6ENSG00000007372ENST00000419022p.P389Qc.1166C>ASubstitution - Missense
OR52A5ENSG00000171944ENST00000307388p.L143Ic.427T>ASubstitution - Missense
ENST00000317568_v70p.P225Pc.675G>ASubstitution - coding silent
FAM213AENSG00000122378ENST00000372188p.S189Sc.567A>GSubstitution - coding silent
NXPE2ENSG00000204361ENST00000389586p.M269Vc.805A>GSubstitution - Missense
APOA4ENSG00000110244ENST00000357780p.R264Wc.790C>TSubstitution - Missense
A1CFENSG00000148584ENST00000374001p.L552Lc.1656C>TSubstitution - coding silent
SORCS3ENSG00000156395ENST00000369701p.D588Yc.1762G>TSubstitution - Missense
PLEKHA1ENSG00000107679ENST00000538022p.?c.613-1G>CUnknown
ZNF366ENSG00000178175ENST00000318442p.R561Wc.1681C>TSubstitution - Missense
SPEF1ENSG00000101222ENST00000379756p.S225Fc.674C>TSubstitution - Missense
CEBPEENSG00000092067ENST00000206513p.G4Rc.10G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.R315*c.943C>TSubstitution - Nonsense
F2RENSG00000181104ENST00000319211p.V154Ac.461T>CSubstitution - Missense
GMIPENSG00000089639ENST00000203556p.P390Ac.1168C>GSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.G73Rc.217G>ASubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.A962Ac.2886G>ASubstitution - coding silent
CPN2ENSG00000178772ENST00000323830p.S479Rc.1437C>GSubstitution - Missense
ANKRD55ENSG00000164512ENST00000341048p.S70Yc.209C>ASubstitution - Missense
DEPDC1BENSG00000035499ENST00000265036p.L112Mc.334C>ASubstitution - Missense
SYNGAP1ENSG00000197283ENST00000293748p.G949Sc.2845G>ASubstitution - Missense
SNX1ENSG00000028528ENST00000559844p.S231delSc.684_686delTTCDeletion - In frame
C16orf46ENSG00000166455ENST00000299578p.P178Pc.534C>TSubstitution - coding silent
NCOR1ENSG00000141027ENST00000268712p.T1408Tc.4224G>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.F2465Fc.7395C>TSubstitution - coding silent
ACADVLENSG00000072778ENST00000356839p.R538Rc.1614G>ASubstitution - coding silent
STXBP5ENSG00000164506ENST00000367481p.G1080Gc.3240C>TSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.P3011Pc.9033G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378707p.P551Pc.1653G>ASubstitution - coding silent
ENST00000378682p.P1670Pc.5010G>ASubstitution - coding silent
PYCR2ENSG00000143811ENST00000343818p.D85Nc.253G>ASubstitution - Missense
NID1ENSG00000116962ENST00000264187p.A949Sc.2845G>TSubstitution - Missense
PXMP2ENSG00000176894ENST00000545677p.R96Rc.288G>ASubstitution - coding silent
LMBR1LENSG00000139636ENST00000267102p.E7Kc.19G>ASubstitution - Missense
LHPPENSG00000107902ENST00000368842p.R47Qc.140G>ASubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.P157Pc.471G>ASubstitution - coding silent
FRMD8ENSG00000126391ENST00000317568p.P225Pc.675G>ASubstitution - coding silent
FRMD6ENSG00000139926ENST00000344768p.R112Rc.336T>CSubstitution - coding silent
RABGGTBENSG00000137955ENST00000319942p.Q127Qc.381G>ASubstitution - coding silent
NFATC1ENSG00000131196ENST00000591814p.?c.1590-1G>AUnknown
SOGA2ENSG00000168502ENST00000306285p.V527Fc.1579G>TSubstitution - Missense
DNMT1ENSG00000130816ENST00000340748p.V1475Vc.4425C>TSubstitution - coding silent
CCDC130ENSG00000104957ENST00000221554p.K138Qc.412A>CSubstitution - Missense
BRD4ENSG00000141867ENST00000263377p.V468Lc.1402G>CSubstitution - Missense
ENST00000319396p.P1278Pc.3834A>GSubstitution - coding silent
ENST00000319396p.P1278Pc.3834A>GSubstitution - coding silent
B3GNT3ENSG00000179913ENST00000318683p.L144Lc.432C>TSubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.I816Tc.2447T>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.P156Rc.467C>GSubstitution - Missense
ENGASEENSG00000167280ENST00000579016p.R352Qc.1055G>ASubstitution - Missense
TMEM88ENSG00000167874ENST00000301599p.V93Lc.277G>CSubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.P591Sc.1771C>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.T2829Pc.8485A>CSubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.E426Qc.1276G>CSubstitution - Missense
DSC2ENSG00000134755ENST00000251081p.A733Vc.2198C>TSubstitution - Missense
MPP2ENSG00000108852ENST00000269095p.L259Pc.776T>CSubstitution - Missense
MPP2ENSG00000108852ENST00000461854p.L283Pc.848T>CSubstitution - Missense
NM_032133.2p.R96Cc.286C>TSubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.N73Kc.219C>ASubstitution - Missense
HEATR6ENSG00000068097ENST00000184956p.A617Gc.1850C>GSubstitution - Missense
ACEENSG00000159640ENST00000290866p.T507Tc.1521C>GSubstitution - coding silent
CAPN15ENSG00000103326ENST00000219611p.R294Qc.881G>ASubstitution - Missense
ENST00000316490_v65p.P4071Sc.12211C>TSubstitution - Missense
ENST00000316490p.P4023Sc.12067C>TSubstitution - Missense
ENST00000339740p.?c.2006-4T>GUnknown
MYO15AENSG00000091536ENST00000205890p.D2447Vc.7340A>TSubstitution - Missense
TRIM16LENSG00000108448ENST00000395671p.R95Cc.283C>TSubstitution - Missense
TRIM16LENSG00000108448ENST00000395902p.R149Cc.445C>TSubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.R588Qc.1763G>ASubstitution - Missense
GIT1ENSG00000108262ENST00000394869p.S331*c.992C>GSubstitution - Nonsense
SOCS1ENSG00000185338ENST00000332029p.*212Sc.635G>CNonstop extension
BAIAP3ENSG00000007516ENST00000397488p.C974Yc.2921G>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.R247Pc.740G>CSubstitution - Missense
KCNK10ENSG00000100433ENST00000312350p.D120Ec.360T>GSubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.D120Ec.360T>GSubstitution - Missense
KCNK10ENSG00000100433ENST00000340700p.D115Ec.345T>GSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.E364Kc.1090G>ASubstitution - Missense
LATENSG00000213658ENST00000360872p.E208Kc.622G>ASubstitution - Missense
BCKDKENSG00000103507ENST00000394951p.T284Ic.851C>TSubstitution - Missense
BCKDKENSG00000103507ENST00000394951p.T284Ic.851C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.K1044Nc.3132G>CSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.D607Dc.1821T>CSubstitution - coding silent
MEGF11ENSG00000157890ENST00000409699p.C333Cc.999C>TSubstitution - coding silent
HCN4ENSG00000138622ENST00000261917p.S522Fc.1565C>TSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.K548Ec.1642A>GSubstitution - Missense
FANCIENSG00000140525ENST00000300027p.K548Ec.1642A>GSubstitution - Missense
TESK2ENSG00000070759ENST00000372086p.C61Cc.183T>CSubstitution - coding silent
MEF2AENSG00000068305ENST00000354410p.L66Ic.196C>ASubstitution - Missense
MEF2AENSG00000068305ENST00000453228p.L66Ic.196C>ASubstitution - Missense
ENST00000346108p.L66Ic.196C>ASubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.E22Dc.66G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.L3011Rc.9032T>GSubstitution - Missense
TXNDC16ENSG00000087301ENST00000281741p.?c.2195-4C>GUnknown
FCN3ENSG00000142748ENST00000270879p.?c.233-6G>AUnknown
NDC1ENSG00000058804ENST00000371429p.L270Lc.810C>GSubstitution - coding silent
CYP2J2ENSG00000134716ENST00000371204p.F52Lc.156C>ASubstitution - Missense
CR2ENSG00000117322ENST00000367057p.T673Tc.2019A>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.T7Sc.20C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.13582-10T>GUnknown
RYR2ENSG00000198626ENST00000366574p.?c.13564-10T>GUnknown
WDR64ENSG00000162843ENST00000366552p.I621Vc.1861A>GSubstitution - Missense
OR14K1ENSG00000153230ENST00000283225p.V20Lc.58G>CSubstitution - Missense
SYF2ENSG00000117614ENST00000236273p.L40Lc.118C>TSubstitution - coding silent
ENST00000310276p.V1032Lc.3094G>CSubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.T431Tc.1293C>TSubstitution - coding silent
ALDH1L1ENSG00000144908ENST00000393434p.A468Ac.1404C>ASubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.S545Sc.1635G>TSubstitution - coding silent
NM_005496.2p.L53Lc.159T>CSubstitution - coding silent
ZBBXENSG00000169064ENST00000392766p.L651Lc.1953T>GSubstitution - coding silent
ZBBXENSG00000169064ENST00000455345p.L690Lc.2070T>GSubstitution - coding silent
PCBP1ENSG00000169564ENST00000303577p.I343Lc.1027A>CSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.?c.1181-4C>TUnknown
EXOC6BENSG00000144036ENST00000272427p.Q225Qc.675G>ASubstitution - coding silent
COL3A1ENSG00000168542ENST00000304636p.P746Tc.2236C>ASubstitution - Missense
COL3A1ENSG00000168542ENST00000317840p.P746Tc.2236C>ASubstitution - Missense
VGLL4ENSG00000144560ENST00000273038p.A17Gc.50C>GSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.R19Sc.55C>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.A763Gc.2288C>GSubstitution - Missense
COL6A3ENSG00000163359ENST00000392004p.A557Gc.1670C>GSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.L249Lc.747G>ASubstitution - coding silent
MRPL33ENSG00000243147ENST00000296102p.A5Ac.15G>CSubstitution - coding silent
MRPL33ENSG00000243147ENST00000379666p.A5Ac.15G>CSubstitution - coding silent
ENST00000410014_v70p.F32Sc.95T>CSubstitution - Missense
EML6ENSG00000214595ENST00000356458p.W803Cc.2409G>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.S1687Sc.5061A>GSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000450242p.L505Fc.1515G>TSubstitution - Missense
NDUFS1ENSG00000023228ENST00000233190p.P612Hc.1835C>ASubstitution - Missense
IKZF2ENSG00000030419ENST00000457361p.H523Hc.1569C>TSubstitution - coding silent
MARCH4ENSG00000144583ENST00000273067p.W19*c.57G>ASubstitution - Nonsense
SF3A1ENSG00000099995ENST00000215793p.I310Vc.928A>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.A495Vc.1484C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400242p.A495Vc.1484C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.A495Vc.1484C>TSubstitution - Missense
RBFOX2ENSG00000100320ENST00000438146p.P104Lc.311C>TSubstitution - Missense
RBFOX2ENSG00000100320ENST00000405409p.P34Lc.101C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.R1932Rc.5796C>TSubstitution - coding silent
TNRC6BENSG00000100354ENST00000301923p.G583Gc.1749G>ASubstitution - coding silent
TNRC6BENSG00000100354ENST00000454349p.G1401Gc.4203G>ASubstitution - coding silent
TTLL1ENSG00000100271ENST00000266254p.L88Lc.264G>CSubstitution - coding silent
PSD4ENSG00000125637ENST00000245796p.I1038Ic.3114C>TSubstitution - coding silent
CNTNAP5ENSG00000155052ENST00000431078p.?c.2750-6T>GUnknown
CYP27C1ENSG00000186684ENST00000335247p.?c.389-9T>CUnknown
MAP3K19ENSG00000176601ENST00000375845p.N340Dc.1018A>GSubstitution - Missense
R3HDM1ENSG00000048991ENST00000264160p.P688Sc.2062C>TSubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.P444Pc.1332A>GSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359125p.I689Lc.2065A>CSubstitution - Missense
ELAVL1ENSG00000066044ENST00000351593p.E323Ec.969A>GSubstitution - coding silent
ARVCFENSG00000099889ENST00000263207p.V128Ic.382G>ASubstitution - Missense
SCARF2ENSG00000244486ENST00000266214p.P851Rc.2552C>GSubstitution - Missense
HPS4ENSG00000100099ENST00000336873p.H331Hc.993T>CSubstitution - coding silent
HPS4ENSG00000100099ENST00000398141p.H344Hc.1032T>CSubstitution - coding silent
SIRPDENSG00000125900ENST00000381623p.N82Tc.245A>CSubstitution - Missense
CHMP4BENSG00000101421ENST00000217402p.T59Ic.176C>TSubstitution - Missense
ATRNENSG00000088812ENST00000262919p.G204Gc.612C>TSubstitution - coding silent
C3ENSG00000125730ENST00000245907p.?c.2797-5C>TUnknown
MUC16ENSG00000181143ENST00000397910p.L6839Lc.20515C>TSubstitution - coding silent
ENST00000331986p.L2472Lc.7414C>TSubstitution - coding silent
ZNF175ENSG00000105497ENST00000262259p.E210Dc.630A>CSubstitution - Missense
ZNF616ENSG00000204611ENST00000330123p.E38Ec.114G>ASubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.V285Gc.854T>GSubstitution - Missense
ZNF682ENSG00000197124ENST00000397165p.K339Nc.1017A>CSubstitution - Missense
ZNF507ENSG00000168813ENST00000355898p.N396Nc.1188C>TSubstitution - coding silent
ANKRD27ENSG00000105186ENST00000306065p.L271Lc.813G>TSubstitution - coding silent
UBA2ENSG00000126261ENST00000246548p.M352Vc.1054A>GSubstitution - Missense
ACTG1ENSG00000184009ENST00000331925p.E83Gc.248A>GSubstitution - Missense
ZNF546ENSG00000187187ENST00000347077p.R732Cc.2194C>TSubstitution - Missense
C18orf54ENSG00000166845ENST00000300091p.S32Fc.95C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.P1125Ac.3373C>GSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.F354Sc.1061T>CSubstitution - Missense
TAGAPENSG00000164691ENST00000338313p.Y266Dc.796T>GSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.R53Qc.158G>ASubstitution - Missense
RNF145ENSG00000145860ENST00000274542p.I577Sc.1730T>GSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.?c.1656+6T>GUnknown
RPP21ENSG00000241370ENST00000428040p.S21Nc.62G>ASubstitution - Missense
MAP3K1ENSG00000095015ENST00000399503p.V631Vc.1893G>ASubstitution - coding silent
XM_042066p.V468Vc.1404G>ASubstitution - coding silent
F2RL1ENSG00000164251ENST00000296677p.A255Dc.764C>ASubstitution - Missense
DMGDHENSG00000132837ENST00000255189p.L424Lc.1272G>CSubstitution - coding silent
TRIP13ENSG00000071539ENST00000166345p.L188Lc.562C>TSubstitution - coding silent
PRDM13ENSG00000112238ENST00000369215p.P197Lc.590C>TSubstitution - Missense
SCML4ENSG00000146285ENST00000369020p.H114Hc.342C>TSubstitution - coding silent
ABLIM2ENSG00000163995ENST00000361737p.P233Lc.698C>TSubstitution - Missense
NM_020340.2p.E455Kc.1363G>ASubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.L737Lc.2211G>ASubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.S222*c.665C>ASubstitution - Nonsense
SPINK5ENSG00000133710ENST00000359874p.C496Rc.1486T>CSubstitution - Missense
TIMD4ENSG00000145850ENST00000274532p.T144Tc.432C>ASubstitution - coding silent
CELA3BENSG00000219073ENST00000337107p.W193fs*6c.578delGDeletion - Frameshift
NINENSG00000100503ENST00000382041p.D1227fs*1c.3678_3679insTInsertion - Frameshift
NINENSG00000100503ENST00000245441p.D1227fs*1c.3678_3679insTInsertion - Frameshift
DUSP1ENSG00000120129ENST00000239223p.P360Pc.1080C>TSubstitution - coding silent
RPL26L1ENSG00000037241ENST00000265100p.R84Wc.250C>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.L196Vc.586C>GSubstitution - Missense
ENST00000376951p.L233Vc.697C>GSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.L189Lc.567C>ASubstitution - coding silent
RAI14ENSG00000039560ENST00000397449p.L182Lc.546C>ASubstitution - coding silent
CD36ENSG00000135218ENST00000447544p.A225fs*4c.662_663insAAGTAInsertion - Frameshift
NOTCH1ENSG00000148400ENST00000277541p.N755delNc.2263_2265delAATDeletion - In frame
ENST00000268613_v61p.R65Hc.194G>ASubstitution - Missense
CDH15ENSG00000129910ENST00000289746p.E740Kc.2218G>ASubstitution - Missense
TMCO6ENSG00000113119ENST00000394671p.M110Tc.329T>CSubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.I171Ic.513C>TSubstitution - coding silent
ZFP42ENSG00000179059ENST00000326866p.N283Ic.848A>TSubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.G446Gc.1338C>ASubstitution - coding silent
CNOT2ENSG00000111596ENST00000229195p.?c.1391+1_1392-1del1951Unknown
SLITRK5ENSG00000165300ENST00000325089p.L782fs*92c.2342_2343insGInsertion - Frameshift
SLITRK5ENSG00000165300ENST00000400028p.L541fs*92c.1619_1620insGInsertion - Frameshift
C17orf100ENSG00000212734ENST00000391428p.H32_S38delHRVETSSc.75_95del21Deletion - In frame
ACTG1ENSG00000184009ENST00000331925p.F21fs*45c.63delTDeletion - Frameshift
KCTD1ENSG00000134504ENST00000317932p.R213fs*13c.637delADeletion - Frameshift
CATSPERGENSG00000099338ENST00000409235p.?c.2095-2delaUnknown
DNAH7ENSG00000118997ENST00000312428p.S3216fs*4c.9646_9647insTInsertion - Frameshift
SPAG16ENSG00000144451ENST00000331683p.H607_V609>Rc.1819_1826CACACGGT>CGComplex - deletion inframe
GHRENSG00000112964ENST00000230882p.P102fs*10c.300_310del11Deletion - Frameshift
DOPEY1ENSG00000083097ENST00000237163p.A856fs*29c.2562_2563insGTAGInsertion - Frameshift
RBM33ENSG00000184863ENST00000401878p.E145delEc.429_431delAGADeletion - In frame
RBM33ENSG00000184863ENST00000401878p.E145delEc.429_431delAGADeletion - In frame
CD36ENSG00000135218ENST00000394788p.A225fs*4c.662_663insAAGTAInsertion - Frameshift
ENST00000600108p.R151Kc.452G>ASubstitution - Missense
UVSSAENSG00000163945ENST00000389851p.S455Lc.1364C>TSubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.A437Sc.1309G>TSubstitution - Missense
GAB1ENSG00000109458ENST00000262995p.P194Pc.582C>TSubstitution - coding silent
DCHS2ENSG00000197410ENST00000357232p.L1840Vc.5518C>GSubstitution - Missense
FGGENSG00000171557ENST00000336098p.V373Fc.1117G>TSubstitution - Missense
MFAP3LENSG00000198948ENST00000361618p.K5Nc.15G>TSubstitution - Missense
FETUBENSG00000090512ENST00000265029p.R364Rc.1092C>ASubstitution - coding silent
EIF4A2ENSG00000156976ENST00000323963p.Y8Cc.23A>GSubstitution - Missense
ANO10ENSG00000160746ENST00000292246p.V467Vc.1401G>TSubstitution - coding silent
ENST00000316347p.L419Ic.1255C>ASubstitution - Missense
ACY1ENSG00000243989ENST00000404366p.E233Dc.699A>CSubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.V1195Lc.3583G>CSubstitution - Missense
SLC35D2ENSG00000130958ENST00000253270p.P118Pc.354G>ASubstitution - coding silent
BTKENSG00000010671ENST00000308731p.I94Mc.282C>GSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000336755p.?c.952-1G>AUnknown
KAT6AENSG00000083168ENST00000265713p.G677Gc.2031G>ASubstitution - coding silent
KIAA2026ENSG00000183354ENST00000399933p.K784Rc.2351A>GSubstitution - Missense
ENST00000399933_v61p.N1562Dc.4684A>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.N737Dc.2209A>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.V724Vc.2172A>TSubstitution - coding silent
ENST00000399933_v61p.I1509Lc.4525A>CSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.I684Lc.2050A>CSubstitution - Missense
UHRF2ENSG00000147854ENST00000276893p.K411Rc.1232A>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.C845Fc.2534G>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000376752p.C845Fc.2534G>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000455778p.C64Fc.191G>TSubstitution - Missense
GALNT12ENSG00000119514ENST00000375011p.E323Qc.967G>CSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.M988Ic.2964G>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.S1455Sc.4365C>TSubstitution - coding silent
ENST00000373926p.L161Lc.483C>TSubstitution - coding silent
CDK9ENSG00000136807ENST00000373264p.D149Dc.447C>TSubstitution - coding silent
MPDZENSG00000107186ENST00000319217p.R2059Gc.6175C>GSubstitution - Missense
NM_003829.1p.R2031Gc.6091C>GSubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.K2310Nc.6930A>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K124Tc.371A>CSubstitution - Missense
ENST00000409172p.A212Ac.636A>TSubstitution - coding silent
VCPIP1ENSG00000175073ENST00000310421p.R1139Kc.3416G>ASubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.E404Kc.1210G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G3309Ac.9926G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.G3260Ac.9779G>CSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.S1128Sc.3384C>TSubstitution - coding silent
TGENSG00000042832ENST00000220616p.L2025Lc.6075C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.T3514Tc.10542G>ASubstitution - coding silent
HNRNPA2B1ENSG00000122566ENST00000354667p.G216Sc.646G>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.A1250Sc.3748G>TSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.R384Cc.1150C>TSubstitution - Missense
ZNF479ENSG00000185177ENST00000331162p.P268Pc.804C>ASubstitution - coding silent
ZNF736ENSG00000234444ENST00000355095p.T196Tc.588T>CSubstitution - coding silent
ENSG00000198580ENST00000544825p.L370Fc.1108C>TSubstitution - Missense
ENSG00000198580ENST00000399484p.L359Fc.1075C>TSubstitution - Missense
ENSG00000198580ENST00000542006p.L210Fc.628C>TSubstitution - Missense
LIMK1ENSG00000106683ENST00000538333p.H71Yc.211C>TSubstitution - Missense
AHCYL2ENSG00000158467ENST00000325006p.L526Fc.1576C>TSubstitution - Missense
AHCYL2ENSG00000158467ENST00000474594p.L423Fc.1267C>TSubstitution - Missense
XM_374491.1p.L502Rc.1505T>GSubstitution - Missense
SYBUENSG00000147642ENST00000422135p.F57Lc.171C>GSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.F54Lc.162C>GSubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.A547Vc.1640C>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.A207Vc.620C>TSubstitution - Missense
SHHENSG00000164690ENST00000297261p.T92Tc.276C>TSubstitution - coding silent
MEOX2ENSG00000106511ENST00000262041p.E201Dc.603A>CSubstitution - Missense
ENST00000328843_v70p.R3484Tc.10451G>CSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.V1513Ic.4537G>ASubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.T844Ic.2531C>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.M1197Ic.3591G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.M1197Tc.3590T>CSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.M1197Tc.3590T>CSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.G225Vc.674G>TSubstitution - Missense
GRM8ENSG00000179603ENST00000405249p.G225Vc.674G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1698Sc.5092A>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1698Sc.5092A>TSubstitution - Missense
TAF8ENSG00000137413ENST00000456846p.A26Ac.78C>GSubstitution - coding silent
TAF8ENSG00000137413ENST00000372978p.A26Ac.78C>GSubstitution - coding silent
MAD2L1BPENSG00000124688ENST00000372171p.R237Wc.709C>TSubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.E123Ec.369G>ASubstitution - coding silent
WASF1ENSG00000112290ENST00000392586p.I389Sc.1166T>GSubstitution - Missense
SV2CENSG00000122012ENST00000502798p.L11Lc.31C>TSubstitution - coding silent
KIAA1244ENSG00000112379ENST00000251691p.E526Kc.1576G>ASubstitution - Missense
ACER2ENSG00000177076ENST00000340967p.V258Vc.774C>TSubstitution - coding silent
ENST00000381532_v70p.N621Kc.1863C>GSubstitution - Missense
ENST00000399933_v61p.K1609Rc.4826A>GSubstitution - Missense
ENST00000399933_v61p.V1549Vc.4647A>TSubstitution - coding silent
ENST00000381114p.S2737Gc.8209A>GSubstitution - Missense
FAM120CENSG00000184083ENST00000375180p.A744Tc.2230G>ASubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.?c.1015-2delaUnknown
GIT1ENSG00000108262ENST00000225394p.S322*c.965C>GSubstitution - Nonsense
DYSFENSG00000135636ENST00000410020p.?c.1277-4C>TUnknown
KIF1AENSG00000130294ENST00000320389p.L249Lc.747G>ASubstitution - coding silent
EIF3LENSG00000100129ENST00000412331p.Y317Cc.950A>GSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.T360Mc.1079C>TSubstitution - Missense
GATA3ENSG00000107485ENST00000379328p.T327Tc.981A>GSubstitution - coding silent
A1CFENSG00000148584ENST00000282641p.L560Lc.1680C>TSubstitution - coding silent
MTL5ENSG00000132749ENST00000255087p.L296Vc.886C>GSubstitution - Missense
EFCAB7ENSG00000203965ENST00000371088p.Y79Yc.237T>CSubstitution - coding silent
NM_015976.2p.L268Pc.803T>CSubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.K174Ec.520A>GSubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.E66Kc.196G>ASubstitution - Missense
ZBTB39ENSG00000166860ENST00000300101p.L451Lc.1351C>TSubstitution - coding silent
NELFCDENSG00000101158ENST00000344018p.R517Qc.1550G>ASubstitution - Missense
NEURL1ENSG00000107954ENST00000369777p.A243Ac.729G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.L6839Lc.20515C>TSubstitution - coding silent
PLD1ENSG00000075651ENST00000331659p.K8Tc.23A>CSubstitution - Missense
PCBP1ENSG00000169564ENST00000303577p.E266Dc.798G>TSubstitution - Missense
ACTG1ENSG00000184009ENST00000331925p.E93Ec.279G>ASubstitution - coding silent
CHD3ENSG00000170004ENST00000330494p.V1151Ac.3452T>CSubstitution - Missense
ENST00000262017p.S348Ic.1043G>TSubstitution - Missense
KRT12ENSG00000187242ENST00000251643p.T128Ac.382A>GSubstitution - Missense
SLC2A4ENSG00000181856ENST00000317370p.L300Lc.900C>TSubstitution - coding silent
HELZENSG00000198265ENST00000358691p.P1396Lc.4187C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.L733Lc.2199G>ASubstitution - coding silent
PTK7ENSG00000112655ENST00000230419p.L772Mc.2314T>ASubstitution - Missense
ECM2ENSG00000106823ENST00000344604p.?c.1605-7G>CUnknown
NM_152632.1p.F188Fc.564T>CSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.D412Nc.1234G>ASubstitution - Missense
MPDZENSG00000107186ENST00000541718p.R2030Gc.6088C>GSubstitution - Missense
GRPRENSG00000126010ENST00000380289p.L87Lc.261G>CSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.S2397Rc.7191T>GSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.S1507Tc.4519T>ASubstitution - Missense
MEGF11ENSG00000157890ENST00000395625p.C315Cc.945C>TSubstitution - coding silent
MEGF11ENSG00000157890ENST00000360698p.C333Cc.999C>TSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.T4018Ic.12053C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.S3809Ic.11426G>TSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.D668Ec.2004C>ASubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.?c.1407-5C>TUnknown
ENPP1ENSG00000197594ENST00000360971p.S870Ic.2609G>TSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.G949Sc.2845G>ASubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.A155Tc.463G>ASubstitution - Missense
MLLT10ENSG00000078403ENST00000307729p.T556Mc.1667C>TSubstitution - Missense
IL10RAENSG00000110324ENST00000227752p.A241Ac.723C>TSubstitution - coding silent
MUM1L1ENSG00000157502ENST00000337685p.K457Nc.1371A>TSubstitution - Missense
NM_152423.2p.K457Nc.1371A>TSubstitution - Missense
RBBP7ENSG00000102054ENST00000380087p.A140Sc.418G>TSubstitution - Missense
ENST00000381114p.S2737Gc.8209A>GSubstitution - Missense
CXorf22ENSG00000165164ENST00000297866p.F188Fc.564T>CSubstitution - coding silent
KIAA1432ENSG00000107036ENST00000381532p.N621Kc.1863C>GSubstitution - Missense
ZNF711ENSG00000147180ENST00000373165p.S717Fc.2150C>TSubstitution - Missense
KAL1ENSG00000011201ENST00000262648p.S478Sc.1434A>GSubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.S561Sc.1683C>TSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000450242p.R315*c.943C>TSubstitution - Nonsense
ECM2ENSG00000106823ENST00000444490p.?c.1539-7G>CUnknown
SMC2ENSG00000136824ENST00000303219p.M988Ic.2964G>ASubstitution - Missense
TMEM30BENSG00000182107ENST00000355702p.P210Lc.629C>TSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.L21Lc.63G>TSubstitution - coding silent
LATENSG00000213658ENST00000395461p.E215Kc.643G>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.F986Sc.2957T>CSubstitution - Missense
KCTD1ENSG00000134504ENST00000417602p.R821fs*13c.2461delADeletion - Frameshift
NOTCH1ENSG00000148400ENST00000277541p.N755delNc.2263_2265delAATDeletion - In frame
CASS4ENSG00000087589ENST00000360314p.E432Qc.1294G>CSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.R901Rc.2703C>TSubstitution - coding silent
PLEKHA1ENSG00000107679ENST00000368990p.?c.613-1G>CUnknown
ELAVL1ENSG00000066044ENST00000407627p.E296Ec.888A>GSubstitution - coding silent
ROBO4ENSG00000154133ENST00000306534p.S30Sc.90C>ASubstitution - coding silent
SRGAP1ENSG00000196935ENST00000355086p.A430Vc.1289C>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.R133Cc.397C>TSubstitution - Missense
CMTR1ENSG00000137200ENST00000373451p.K108Ec.322A>GSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.F358Sc.1073T>CSubstitution - Missense
NM_007332.1p.E404Kc.1210G>ASubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.P233Lc.698C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.P1333Pc.3999T>CSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.T3536Tc.10608G>ASubstitution - coding silent
GFRA2ENSG00000168546ENST00000524240p.S136Sc.408G>ASubstitution - coding silent
ZNF142ENSG00000115568ENST00000411696p.Q1235Qc.3705G>ASubstitution - coding silent
TET2ENSG00000168769ENST00000380013p.W564fs*3c.1687_1690delGGATDeletion - Frameshift
ZNF276ENSG00000158805ENST00000289816p.V289Ic.865G>ASubstitution - Missense
ZDHHC17ENSG00000186908ENST00000426126p.A228Sc.682G>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.A2534Ac.7602G>TSubstitution - coding silent
SEMA5BENSG00000082684ENST00000195173p.T431Tc.1293C>TSubstitution - coding silent
PCBP1ENSG00000169564ENST00000303577p.T278Pc.832A>CSubstitution - Missense
HJURPENSG00000123485ENST00000411486p.P565Tc.1693C>ASubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.W303Lc.908G>TSubstitution - Missense
ENST00000337072p.R286Rc.858G>ASubstitution - coding silent
TRIM6ENSG00000121236ENST00000380097p.R286Rc.858G>ASubstitution - coding silent
SYT10ENSG00000110975ENST00000228567p.F74Vc.220T>GSubstitution - Missense
ANP32DENSG00000139223ENST00000266594p.L109Lc.327G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.P719Pc.2157G>ASubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.?c.1656+6T>GUnknown
CRIP1ENSG00000213145ENST00000392531p.G65Ac.194G>CSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.P594Lc.1781C>TSubstitution - Missense
COPS2ENSG00000166200ENST00000388901p.?c.54+3G>AUnknown
MEGF11ENSG00000157890ENST00000395625p.C258Cc.774C>TSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.E2336Kc.7006G>ASubstitution - Missense
ZNF655ENSG00000197343ENST00000424881p.L58Lc.172C>TSubstitution - coding silent
ADAM2ENSG00000104755ENST00000265708p.T28Kc.83C>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000400046p.A322Sc.964G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.T1022Tc.3066C>TSubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.E902Kc.2704G>ASubstitution - Missense
FAM181BENSG00000182103ENST00000329203p.P383Sc.1147C>TSubstitution - Missense
NKX6-2ENSG00000148826ENST00000368592p.R5Cc.13C>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.?c.1862-4T>GUnknown
ENST00000425539p.Y360Cc.1079A>GSubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.A733Vc.2198C>TSubstitution - Missense
TAF8ENSG00000137413ENST00000372977p.A26Ac.78C>GSubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.S1455Sc.4365C>TSubstitution - coding silent
SMC2ENSG00000136824ENST00000286398p.M988Ic.2964G>ASubstitution - Missense
XM_052561.7p.D1180Nc.3538G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S1507Tc.4519T>ASubstitution - Missense
LIN54ENSG00000189308ENST00000340417p.R506Qc.1517G>ASubstitution - Missense
CCDC19ENSG00000213085ENST00000368099p.R317Cc.949C>TSubstitution - Missense
ARHGEF38ENSG00000236699ENST00000265154p.E142Ec.426G>ASubstitution - coding silent
ENST00000217537p.N129Nc.387C>TSubstitution - coding silent
NFATC1ENSG00000131196ENST00000329101p.?c.1551-1G>AUnknown
MAPTENSG00000186868ENST00000344290p.N621Nc.1863C>TSubstitution - coding silent
STAT5BENSG00000173757ENST00000293328p.L60Fc.178C>TSubstitution - Missense
ANKHD1ENSG00000131503ENST00000297183p.P1486Pc.4458A>GSubstitution - coding silent
TGM1ENSG00000092295ENST00000206765p.R367Hc.1100G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.E1532Gc.4595A>GSubstitution - Missense
NM_021998.2p.S727Fc.2180C>TSubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.L502Rc.1505T>GSubstitution - Missense
C14orf166ENSG00000087302ENST00000261700p.D191Hc.571G>CSubstitution - Missense
TET2ENSG00000168769ENST00000380013p.A1505Tc.4513G>ASubstitution - Missense
C14orf166ENSG00000087302ENST00000261700p.?c.286+4C>TUnknown
RBM33ENSG00000184863ENST00000287912p.E145delEc.429_431delAGADeletion - In frame
CD160ENSG00000117281ENST00000369288p.P70delPc.208_210delCCTDeletion - In frame
KIAA0922ENSG00000121210ENST00000409959p.?c.302_308+22del29Unknown
NM_020529.1p.V233fs*2c.698_720del23Deletion - Frameshift
AKAP10ENSG00000108599ENST00000225737p.?c.1752-5T>CUnknown
CNTNAP4ENSG00000152910ENST00000307431p.?c.2078-4T>GUnknown
TASP1ENSG00000089123ENST00000337743p.S134Sc.402T>CSubstitution - coding silent
TNPO3ENSG00000064419ENST00000393245p.A948Vc.2843C>TSubstitution - Missense
DNMT3AENSG00000119772ENST00000321117p.?c.2598-3C>TUnknown
PACSIN2ENSG00000100266ENST00000402229p.M294Vc.880A>GSubstitution - Missense
ENST00000316893p.P156Rc.467C>GSubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.C496Rc.1486T>CSubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.L1124Lc.3372C>TSubstitution - coding silent
PTCHD2ENSG00000204624ENST00000389575p.D963Nc.2887G>ASubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.S168Cc.503C>GSubstitution - Missense
MMADHCENSG00000168288ENST00000303319p.V12Fc.34G>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.I895Ic.2685C>TSubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.D1506Ec.4518C>GSubstitution - Missense
AHCYL2ENSG00000158467ENST00000531335p.L445Fc.1333C>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.T3673Tc.11019G>ASubstitution - coding silent
ENST00000544825_v68p.L370Fc.1108C>TSubstitution - Missense
NEURL1ENSG00000107954ENST00000369780p.A260Ac.780G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.D2187Vc.6560A>TSubstitution - Missense
CD36ENSG00000135218ENST00000435819p.A225fs*4c.662_663insAAGTAInsertion - Frameshift
ANXA3ENSG00000138772ENST00000264908p.L156fs*10c.464_465delCTDeletion - Frameshift
NINENSG00000100503ENST00000382041p.D1227fs*1c.3678_3679insTInsertion - Frameshift
THAP11ENSG00000168286ENST00000303596p.S15Wc.44C>GSubstitution - Missense
GSSENSG00000100983ENST00000216951p.L62Lc.186G>ASubstitution - coding silent
KLHL6ENSG00000172578ENST00000341319p.H598Hc.1794C>TSubstitution - coding silent
NIT2ENSG00000114021ENST00000497785p.?c.617-9G>TUnknown
FRMD6ENSG00000139926ENST00000395718p.R104Rc.312T>CSubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.C1314Yc.3941G>ASubstitution - Missense
ZNF391ENSG00000124613ENST00000244576p.R106Rc.316A>CSubstitution - coding silent
NM_007332.1p.D412Nc.1234G>ASubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.?c.220-1G>AUnknown
PPP1CCENSG00000186298ENST00000335007p.S292Sc.876T>GSubstitution - coding silent
ADCY6ENSG00000174233ENST00000307885p.L569Lc.1705C>TSubstitution - coding silent
CRB1ENSG00000134376ENST00000367400p.C401Fc.1202G>TSubstitution - Missense
SLC10A1ENSG00000100652ENST00000216540p.?c.943+2T>CUnknown
EEF2KENSG00000103319ENST00000263026p.R247Pc.740G>CSubstitution - Missense
BRD4ENSG00000141867ENST00000360016p.V468Lc.1402G>CSubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.F316Fc.948C>TSubstitution - coding silent
PBRM1ENSG00000163939ENST00000337303p.F1018Sc.3053T>CSubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.?c.56-6A>GUnknown
CD36ENSG00000135218ENST00000435819p.A225fs*4c.662_663insAAGTAInsertion - Frameshift
YTHDC1ENSG00000083896ENST00000344157p.?c.1027+5C>AUnknown
CALCRENSG00000004948ENST00000394441p.T330Pc.988A>CSubstitution - Missense
PTPRNENSG00000054356ENST00000295718p.V807Ic.2419G>ASubstitution - Missense
C5AR2ENSG00000134830ENST00000257267p.R183Wc.547C>TSubstitution - Missense
GPR146ENSG00000164849ENST00000397095p.E100Kc.298G>ASubstitution - Missense
MED30ENSG00000164758ENST00000297347p.E112Kc.334G>ASubstitution - Missense
GNPTABENSG00000111670ENST00000299314p.I852Lc.2554A>CSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.L903Fc.2709G>CSubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.L29Lc.85C>TSubstitution - coding silent
PDE6AENSG00000132915ENST00000255266p.H116Rc.347A>GSubstitution - Missense
ANKHD1ENSG00000131503ENST00000360839p.P1486Pc.4458A>GSubstitution - coding silent
CYB5R4ENSG00000065615ENST00000369681p.?c.1347-4C>TUnknown
ENST00000369212_v70p.F208Sc.623T>CSubstitution - Missense
KDM1BENSG00000165097ENST00000297792p.R226Kc.677G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R478Sc.1434A>CSubstitution - Missense
RORBENSG00000198963ENST00000376896p.C70Cc.210T>CSubstitution - coding silent
ENST00000368148p.E530Kc.1588G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.L3009Rc.9026T>GSubstitution - Missense
ENST00000341258p.I341Vc.1021A>GSubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.E190Gc.569A>GSubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.F1018Sc.3053T>CSubstitution - Missense
RILPENSG00000167705ENST00000301336p.E257*c.769G>TSubstitution - Nonsense
CPT2ENSG00000157184ENST00000371486p.R167Qc.500G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.R315*c.943C>TSubstitution - Nonsense
CACNA2D4ENSG00000151062ENST00000382722p.Y547Cc.1640A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.R721Wc.2161C>TSubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.P713Pc.2139G>ASubstitution - coding silent
MYCBPAPENSG00000136449ENST00000436259p.R96Cc.286C>TSubstitution - Missense
NOL11ENSG00000130935ENST00000253247p.S308Tc.923G>CSubstitution - Missense
DMGDHENSG00000132837ENST00000380311p.L223Lc.669G>CSubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.A1380Ac.4140C>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000297488p.A416Sc.1246G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K124Tc.371A>CSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.E173Kc.517G>ASubstitution - Missense
ENST00000402998p.E209Kc.625G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.T1062Tc.3186C>TSubstitution - coding silent
ADAM32ENSG00000197140ENST00000379907p.N39Nc.117T>CSubstitution - coding silent
ZC3HAV1ENSG00000105939ENST00000242351p.?c.697+2_697+7deltaaaggUnknown
ENST00000398270p.A126fs*8c.369_370insTInsertion - Frameshift
TTC28ENSG00000100154ENST00000397906p.G1777Sc.5329G>ASubstitution - Missense
UTS2RENSG00000181408ENST00000313135p.R78Cc.232C>TSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.M269Vc.805A>GSubstitution - Missense
CPNE8ENSG00000139117ENST00000331366p.R4Hc.11G>ASubstitution - Missense
SRGAP1ENSG00000196935ENST00000357825p.A430Vc.1289C>TSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.D162Gc.485A>GSubstitution - Missense
SNX7ENSG00000162627ENST00000306121p.L332Pc.995T>CSubstitution - Missense
ALDH6A1ENSG00000119711ENST00000553458p.E416Kc.1246G>ASubstitution - Missense
SLC30A4ENSG00000104154ENST00000261867p.V276Lc.826G>TSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.A192Ac.576C>TSubstitution - coding silent
UACAENSG00000137831ENST00000322954p.L650fs*9c.1947_1948insAInsertion - Frameshift
PRAF2ENSG00000243279ENST00000376390p.V37Ic.109G>ASubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.G417Dc.1250G>ASubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.G105Gc.315C>TSubstitution - coding silent
IGLL5ENSG00000254709ENST00000526893p.L28Lc.84G>TSubstitution - coding silent
TRMT2AENSG00000099899ENST00000252136p.P53Pc.159G>ASubstitution - coding silent
NIT2ENSG00000114021ENST00000394140p.?c.337-9G>TUnknown
ZNF391ENSG00000124613ENST00000244576p.R106Rc.316A>CSubstitution - coding silent
TAF2ENSG00000064313ENST00000378164p.S1128Sc.3384C>TSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000439140p.?c.1506+9G>TUnknown
HOOK2ENSG00000095066ENST00000397668p.R701Hc.2102G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000354587p.I697Lc.2089A>CSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.I689Lc.2065A>CSubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.G1116Gc.3348C>TSubstitution - coding silent
THSD7BENSG00000144229ENST00000413152p.G42Rc.124G>ASubstitution - Missense
NLRP14ENSG00000158077ENST00000299481p.Q394Kc.1180C>ASubstitution - Missense
TNFSF11ENSG00000120659ENST00000239849p.G149Dc.446G>ASubstitution - Missense
CYP2W1ENSG00000073067ENST00000308919p.R478Kc.1433G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.T3522Tc.10566G>ASubstitution - coding silent
ARHGAP39ENSG00000147799ENST00000377307p.S296Sc.888C>TSubstitution - coding silent
ZNF396ENSG00000186496ENST00000589332p.R298Rc.894A>GSubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.V1202Fc.3604G>TSubstitution - Missense
ENST00000377072_v68p.T556Mc.1667C>TSubstitution - Missense
KLRD1ENSG00000134539ENST00000336164p.E145Qc.433G>CSubstitution - Missense
BTBD11ENSG00000151136ENST00000280758p.A426Ac.1278C>TSubstitution - coding silent
SELENBP1ENSG00000143416ENST00000368868p.H140Rc.419A>GSubstitution - Missense
GORABENSG00000120370ENST00000367763p.V343Mc.1027G>ASubstitution - Missense
RNF157ENSG00000141576ENST00000269391p.A570Vc.1709C>TSubstitution - Missense
NM_133638.1p.?c.1460+8A>CUnknown
PRDM13ENSG00000112238ENST00000369214p.P207Lc.620C>TSubstitution - Missense
ENST00000369020_v68p.H143Hc.429C>TSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.R478Sc.1434A>CSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.R1209Wc.3625C>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.?c.1506+9G>TUnknown
MAP2ENSG00000078018ENST00000360351p.S1215Yc.3644C>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.V285Gc.854T>GSubstitution - Missense
TET2ENSG00000168769ENST00000305737p.W564fs*3c.1687_1690delGGATDeletion - Frameshift
AIM2ENSG00000163568ENST00000368130p.T288fs*15c.862delADeletion - Frameshift
TMEM139ENSG00000178826ENST00000359333p.L67Rc.200T>GSubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.A547Vc.1640C>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.T564Mc.1691C>TSubstitution - Missense
BRD4ENSG00000141867ENST00000371835p.V468Lc.1402G>CSubstitution - Missense
CCDC3ENSG00000151468ENST00000378825p.A253Tc.757G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.S301Ic.902G>TSubstitution - Missense
CDH13ENSG00000140945ENST00000431540p.R65Hc.194G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.H1312Hc.3936C>TSubstitution - coding silent
HMGCLL1ENSG00000146151ENST00000398661p.V127Lc.379G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.M1197Ic.3591G>TSubstitution - Missense
PTK7ENSG00000112655ENST00000230419p.L772*c.2315T>ASubstitution - Nonsense
APBA1ENSG00000107282ENST00000265381p.Y238Yc.714C>TSubstitution - coding silent
GAKENSG00000178950ENST00000314167p.I377Vc.1129A>GSubstitution - Missense
HNRNPA2B1ENSG00000122566ENST00000356674p.G204Sc.610G>ASubstitution - Missense
MEGF11ENSG00000157890ENST00000409699p.C390Cc.1170C>TSubstitution - coding silent
CYP8B1ENSG00000180432ENST00000316161p.F186Lc.558C>ASubstitution - Missense
ENST00000335106p.V382Ic.1144G>ASubstitution - Missense
KIAA1279ENSG00000198954ENST00000361983p.?c.991-6C>TUnknown
SMCHD1ENSG00000101596ENST00000320876p.D1969Nc.5905G>ASubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.D924Ec.2772C>ASubstitution - Missense
PA2G4ENSG00000170515ENST00000303305p.Q165Qc.495A>GSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.T3563Tc.10689G>ASubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.M1693Ic.5079G>TSubstitution - Missense
PLAC9ENSG00000189129ENST00000372263p.R48Hc.143G>ASubstitution - Missense
LCTLENSG00000188501ENST00000341509p.?c.118+5G>AUnknown
PIK3CBENSG00000051382ENST00000477593p.P332Hc.995C>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000536766p.A467Vc.1400C>TSubstitution - Missense
TRMT2AENSG00000099899ENST00000404751p.P53Pc.159G>ASubstitution - coding silent
RPP21ENSG00000241370ENST00000442966p.?c.57+5G>AUnknown
IL11RAENSG00000137070ENST00000555003p.R292Qc.875G>ASubstitution - Missense
ZNF233ENSG00000159915ENST00000391958p.K132Tc.395A>CSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.K893Nc.2679A>TSubstitution - Missense
ZNF555ENSG00000186300ENST00000334241p.A180Ac.540C>TSubstitution - coding silent
NINENSG00000100503ENST00000453196p.D1227fs*1c.3678_3679insTInsertion - Frameshift
A1CFENSG00000148584ENST00000373995p.L560Lc.1680C>TSubstitution - coding silent
NXPE1ENSG00000095110ENST00000424269p.S50Sc.150C>TSubstitution - coding silent
LAMA3ENSG00000053747ENST00000269217p.T1220Pc.3658A>CSubstitution - Missense
KITLGENSG00000049130ENST00000228280p.?c.715-1G>TUnknown
MCF2LENSG00000126217ENST00000375608p.P745Pc.2235G>ASubstitution - coding silent
PRAMEF10ENSG00000187545ENST00000235347p.M39Kc.116T>ASubstitution - Missense
STILENSG00000123473ENST00000337817p.E335Ec.1005A>GSubstitution - coding silent
NM_007170p.C61Cc.183T>CSubstitution - coding silent
SLCO5A1ENSG00000137571ENST00000260126p.F825Lc.2475C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.P1333Pc.3999T>CSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.F2460Fc.7380C>TSubstitution - coding silent
NM_058004.1p.M1108Vc.3322A>GSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.I375Ic.1125C>TSubstitution - coding silent
PLLPENSG00000102934ENST00000219207p.L128Lc.382C>TSubstitution - coding silent
SEMA5BENSG00000082684ENST00000451055p.T485Tc.1455C>TSubstitution - coding silent
UGGT1ENSG00000136731ENST00000259253p.V1040Gc.3119T>GSubstitution - Missense
ZNF396ENSG00000186496ENST00000306346p.R298Rc.894A>GSubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.S2684Cc.8051C>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.S1582Cc.4745C>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.C518Fc.1553G>TSubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.E348Ec.1044G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.E1487Gc.4460A>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000381861p.A497Sc.1489G>TSubstitution - Missense
AF083811.1p.Y96Yc.288C>TSubstitution - coding silent
TAF4BENSG00000141384ENST00000269142p.R755Hc.2264G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.S348Ic.1043G>TSubstitution - Missense
PLAC9ENSG00000189129ENST00000372267p.R48Hc.143G>ASubstitution - Missense
OR52A5ENSG00000171944ENST00000307388p.I63Vc.187A>GSubstitution - Missense
OR52M1ENSG00000197790ENST00000360213p.M36Vc.106A>GSubstitution - Missense
L3MBTL3ENSG00000198945ENST00000368136p.?c.1245-7C>TUnknown
APOBEC2ENSG00000124701ENST00000244669p.W121Cc.363G>CSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.?c.6251+7T>GUnknown
REREENSG00000142599ENST00000400908p.A655Vc.1964C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S1507Tc.4519T>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.E364Kc.1090G>ASubstitution - Missense
ANAPC2ENSG00000176248ENST00000323927p.?c.741-7C>TUnknown
REXO1ENSG00000079313ENST00000170168p.K857Ec.2569A>GSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.A875fs*29c.2619_2620insGTAGInsertion - Frameshift
PADI1ENSG00000142623ENST00000375471p.F381Fc.1143C>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.G788Rc.2362G>ASubstitution - Missense
KDM1BENSG00000165097ENST00000388870p.R358Kc.1073G>ASubstitution - Missense
CDSNENSG00000204539ENST00000376288p.H413Nc.1237C>ASubstitution - Missense
PROX1ENSG00000117707ENST00000498508p.D449Dc.1347C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000435930p.E242Kc.724G>ASubstitution - Missense
NEIL2ENSG00000154328ENST00000455213p.A301Vc.902C>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T3536Tc.10608G>ASubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.G225Vc.674G>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.R3484Tc.10451G>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K124Tc.371A>CSubstitution - Missense
CALCRENSG00000004948ENST00000359558p.T364Pc.1090A>CSubstitution - Missense
PPP1R12CENSG00000125503ENST00000263433p.N694Sc.2081A>GSubstitution - Missense
ACY1ENSG00000243989ENST00000458031p.E323Dc.969A>CSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.P978Ac.2932C>GSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.P157Pc.471G>ASubstitution - coding silent
XM_371214.3p.V1038Lc.3112G>TSubstitution - Missense
ZNF141ENSG00000131127ENST00000240499p.K253Nc.759A>CSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.S545Sc.1635G>TSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.L903Fc.2709G>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.A495Vc.1484C>TSubstitution - Missense
DNMT3AENSG00000119772ENST00000380746p.?c.2031-3C>TUnknown
MAPTENSG00000186868ENST00000262410p.N603Nc.1809C>TSubstitution - coding silent
KLRD1ENSG00000134539ENST00000539792p.E12Qc.34G>CSubstitution - Missense
C1orf170ENSG00000187642ENST00000341290p.S328Sc.984C>TSubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.E708Ec.2124A>GSubstitution - coding silent
MEGF11ENSG00000157890ENST00000360698p.C390Cc.1170C>TSubstitution - coding silent
MAN2A2ENSG00000196547ENST00000360468p.L166Lc.498G>CSubstitution - coding silent
ENST00000396788p.Q1072Qc.3216G>ASubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.D259Gc.776A>GSubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.P233Lc.698C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.K124Tc.371A>CSubstitution - Missense
ST8SIA5ENSG00000101638ENST00000315087p.R148Hc.443G>ASubstitution - Missense
KRT72ENSG00000170486ENST00000293745p.P109Tc.325C>ASubstitution - Missense
IL23RENSG00000162594ENST00000347310p.E494Kc.1480G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.E449Kc.1345G>ASubstitution - Missense
ZNF276ENSG00000158805ENST00000443381p.V364Ic.1090G>ASubstitution - Missense
BAIAP3ENSG00000007516ENST00000324385p.C992Yc.2975G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.P3007Pc.9021G>ASubstitution - coding silent
ARHGEF38ENSG00000236699ENST00000420470p.E142Ec.426G>ASubstitution - coding silent
CSNK2A2ENSG00000070770ENST00000262506p.L266Lc.796C>TSubstitution - coding silent
MORN2ENSG00000188010ENST00000410014p.F32Sc.95T>CSubstitution - Missense
C16orf46ENSG00000166455ENST00000378611p.P178Pc.534C>TSubstitution - coding silent
TNPO3ENSG00000064419ENST00000265388p.A914Vc.2741C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.P3007Pc.9021G>ASubstitution - coding silent


COSMIC

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