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UACC-812 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

738 mutations reported
248 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
CEP250ENSG00000126001ENST00000397527p.Q2038Qc.6114G>ASubstitution - coding silent
ENST00000434864p.R51Rc.151C>ASubstitution - coding silent
ENST00000312412_v68p.T141Mc.422C>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.H934Qc.2802C>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.P253Sc.757C>TSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.S1058Cc.3173C>GSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.R1727Qc.5180G>ASubstitution - Missense
XM_497119.1p.L554Lc.1662C>TSubstitution - coding silent
NM_000047.1p.M454Ic.1362G>ASubstitution - Missense
SLC25A31ENSG00000151475ENST00000281154p.F94Vc.280T>GSubstitution - Missense
ENST00000342288p.K1018Tc.3053A>CSubstitution - Missense
NNTENSG00000112992ENST00000264663p.R587Hc.1760G>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000341749p.P690Pc.2070A>GSubstitution - coding silent
DENND5BENSG00000170456ENST00000306833p.H728Rc.2183A>GSubstitution - Missense
ENST00000466655p.?c.93+2T>CUnknown
ENST00000428907p.?c.36+9G>AUnknown
PDE2AENSG00000186642ENST00000544570p.?c.1901+9G>CUnknown
ENST00000451458p.C255Yc.764G>ASubstitution - Missense
FCGR2BENSG00000072694ENST00000358671p.F174Fc.522T>CSubstitution - coding silent
NM_013266.1p.E487Ec.1461G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.R641Hc.1922G>ASubstitution - Missense
MGAT2ENSG00000168282ENST00000305386p.I247Mc.741T>GSubstitution - Missense
ADARENSG00000160710ENST00000368474p.Q120Hc.360G>CSubstitution - Missense
GPR37L1ENSG00000170075ENST00000367282p.T387Pc.1159A>CSubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.R603Qc.1808G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.?c.1792-1G>AUnknown
FAM205AENSG00000205108ENST00000378788p.R229Rc.685A>CSubstitution - coding silent
ARID5AENSG00000196843ENST00000357485p.E54_Q59delEREEEQc.141_158del18Deletion - In frame
SETD4ENSG00000185917ENST00000399215p.L347Lc.1041G>ASubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.Q397Rc.1190A>GSubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.?c.1072-7C>TUnknown
RSPH10B2ENSG00000169402ENST00000404077p.?c.1609+4A>GUnknown
DDX31ENSG00000125485ENST00000372159p.D470Nc.1408G>ASubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.G324Gc.972G>ASubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.D1015Yc.3043G>TSubstitution - Missense
WIZENSG00000011451ENST00000545156p.P857Sc.2569C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.L640fs*7c.1918_1921delTTGTDeletion - Frameshift
COL23A1ENSG00000050767ENST00000407622p.?c.594+3G>AUnknown
CYP1A2ENSG00000140505ENST00000343932p.A502Tc.1504G>ASubstitution - Missense
SYNPO2LENSG00000166317ENST00000394810p.P114Rc.341C>GSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.T1209Mc.3626C>TSubstitution - Missense
HSP90B1ENSG00000166598ENST00000299767p.L729Sc.2186T>CSubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.M598Vc.1792A>GSubstitution - Missense
UBE2TENSG00000077152ENST00000367274p.Q179fs*17c.532_533delACDeletion - Frameshift
PDE4DIPENSG00000178104ENST00000313382p.R544Hc.1631G>ASubstitution - Missense
MST1RENSG00000164078ENST00000296474p.Y44*c.132C>GSubstitution - Nonsense
ENSG00000258947ENST00000315491p.T149Tc.447G>ASubstitution - coding silent
KHKENSG00000138030ENST00000260598p.C98Yc.293G>ASubstitution - Missense
NGEFENSG00000066248ENST00000264051p.P81Pc.243C>TSubstitution - coding silent
SH3BP2ENSG00000087266ENST00000356331p.R488Rc.1462C>ASubstitution - coding silent
ENST00000378129p.E486Dc.1458G>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.P1875Pc.5625C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.I1097Tc.3290T>CSubstitution - Missense
COL23A1ENSG00000050767ENST00000390654p.?c.702+3G>AUnknown
CSMD2ENSG00000121904ENST00000373388p.R94Wc.280C>TSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.I106Ic.318C>TSubstitution - coding silent
ANKLE2ENSG00000176915ENST00000357997p.G713Sc.2137G>ASubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.W628Rc.1882T>CSubstitution - Missense
PRKCQENSG00000065675ENST00000263125p.D533Ec.1599T>GSubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.E487Ec.1461G>ASubstitution - coding silent
NM_004667.3p.T4009Tc.12027T>CSubstitution - coding silent
CDC27ENSG00000004897ENST00000066544p.G472Ac.1415G>CSubstitution - Missense
EVI5ENSG00000067208ENST00000370331p.K406Kc.1218A>GSubstitution - coding silent
NLRC4ENSG00000091106ENST00000404025p.A982Ec.2945C>ASubstitution - Missense
PRR5ENSG00000186654ENST00000403581p.R262Cc.784C>TSubstitution - Missense
ESPNLENSG00000144488ENST00000343063p.P329Lc.986C>TSubstitution - Missense
RELNENSG00000189056ENST00000343529p.?c.2465+5G>TUnknown
ZNF14ENSG00000105708ENST00000344099p.H121Yc.361C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.P419Ac.1255C>GSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.S282Sc.846G>TSubstitution - coding silent
AFF2ENSG00000155966ENST00000286437p.I352Tc.1055T>CSubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.V271Ac.812T>CSubstitution - Missense
CYP4F11ENSG00000171903ENST00000248041p.G12Rc.34G>CSubstitution - Missense
BRD4ENSG00000141867ENST00000371835p.K572Kc.1716G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.G1679Rc.5035G>CSubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.G988Sc.2962G>ASubstitution - Missense
ADARENSG00000160710ENST00000292205p.D257Hc.769G>CSubstitution - Missense
NM_001787p.G537Rc.1609G>CSubstitution - Missense
NM_004073p.?c.536+2_536+8deltgagtttUnknown
MUC2ENSG00000198788ENST00000441003p.P1934Sc.5800C>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.S619Rc.1857C>GSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.P235Sc.703C>TSubstitution - Missense
AXIN2ENSG00000168646ENST00000307078p.H515Rc.1544A>GSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.S227Sc.681C>TSubstitution - coding silent
ENST00000295142p.N3Yc.7A>TSubstitution - Missense
SDC1ENSG00000115884ENST00000254351p.T76Tc.228G>ASubstitution - coding silent
ENST00000405167p.L2081Ic.6241C>ASubstitution - Missense
SH3KBP1ENSG00000147010ENST00000397821p.?c.803-7C>AUnknown
ATXN2LENSG00000168488ENST00000336783p.H386Lc.1157A>TSubstitution - Missense
C16orf92ENSG00000167194ENST00000300575p.T57Ic.170C>TSubstitution - Missense
TTC7AENSG00000068724ENST00000319190p.E686*c.2056G>TSubstitution - Nonsense
ENST00000314714p.P318Qc.953C>ASubstitution - Missense
WNT2BENSG00000134245ENST00000369686p.G222Gc.666C>TSubstitution - coding silent
NKAIN1ENSG00000084628ENST00000263693p.R80Hc.239G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.V1058Ac.3173T>CSubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.A517Ac.1551T>CSubstitution - coding silent
RHBDF1ENSG00000007384ENST00000262316p.S136Nc.407G>ASubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.N630Tc.1889A>CSubstitution - Missense
UPF3AENSG00000169062ENST00000375299p.R207Sc.621A>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.S25Sc.75A>TSubstitution - coding silent
ITGAVENSG00000138448ENST00000261023p.V929Ac.2786T>CSubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.V335Vc.1005C>GSubstitution - coding silent
FCGR2BENSG00000072694ENST00000428605p.F174Fc.522T>CSubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.G820Cc.2458G>TSubstitution - Missense
LEMD3ENSG00000174106ENST00000308330p.M318Tc.953T>CSubstitution - Missense
CYP11A1ENSG00000140459ENST00000268053p.H77Yc.229C>TSubstitution - Missense
IREB2ENSG00000136381ENST00000258886p.T323Sc.968C>GSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.T647Ac.1939A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R2604Gc.7810A>GSubstitution - Missense
XPO7ENSG00000130227ENST00000434536p.F170Lc.508T>CSubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.H468Rc.1403A>GSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.H1119Hc.3357C>TSubstitution - coding silent
ENST00000356067p.F755Lc.2263T>CSubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.D488Ec.1464C>ASubstitution - Missense
NGEFENSG00000066248ENST00000264051p.V321Ic.961G>ASubstitution - Missense
NHSENSG00000188158ENST00000398097p.G313Vc.938G>TSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.A54Ac.162C>ASubstitution - coding silent
DAPK1ENSG00000196730ENST00000469640p.P971Pc.2913A>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000283254p.Y1553Fc.4658A>TSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.Q297Kc.889C>ASubstitution - Missense
MAPK8ENSG00000107643ENST00000374176p.V223Ac.668T>CSubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.C169Yc.506G>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.R832Cc.2494C>TSubstitution - Missense
SLC15A4ENSG00000139370ENST00000266771p.I263Vc.787A>GSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.V949Ac.2846T>CSubstitution - Missense
AQP9ENSG00000103569ENST00000219919p.W245Rc.733T>CSubstitution - Missense
XM_031689.7p.H2732Rc.8195A>GSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.A1008Ac.3024A>GSubstitution - coding silent
HECTD1ENSG00000092148ENST00000399332p.E2309Gc.6926A>GSubstitution - Missense
ZNF177ENSG00000188629ENST00000343499p.?c.161-9C>TUnknown
FBF1ENSG00000188878ENST00000319129p.P257Rc.770C>GSubstitution - Missense
CREB3ENSG00000107175ENST00000353704p.Q346Rc.1037A>GSubstitution - Missense
SU_NEK8p.?c.2084-10T>CUnknown
ENST00000434864p.R37Rc.109C>ASubstitution - coding silent
POTEJENSG00000222038ENST00000409602p.A984Ac.2952G>ASubstitution - coding silent
ARR3ENSG00000120500ENST00000307959p.A181Vc.542C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.P379Ac.1135C>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.D1015Yc.3043G>TSubstitution - Missense
UBXN1ENSG00000162191ENST00000301935p.R135Qc.404G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.I1156Tc.3467T>CSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.L1174Rc.3521T>GSubstitution - Missense
PABPC4ENSG00000090621ENST00000372857p.M582Vc.1744A>GSubstitution - Missense
C15orf39ENSG00000167173ENST00000360639p.A979Ac.2937T>CSubstitution - coding silent
NPY4RENSG00000204174ENST00000395716p.Q155Kc.463C>ASubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.R77Rc.231G>CSubstitution - coding silent
PLEKHA5ENSG00000052126ENST00000299275p.P883Rc.2648C>GSubstitution - Missense
ENST00000266746p.V143fs*>2c.427delGDeletion - Frameshift
NM_002837.2p.V949Ac.2846T>CSubstitution - Missense
ADARENSG00000160710ENST00000368474p.D214Hc.640G>CSubstitution - Missense
SLC41A1ENSG00000133065ENST00000367137p.I443Ic.1329C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R7112Cc.21334C>TSubstitution - Missense
OR7D2ENSG00000188000ENST00000344248p.T279Ic.836C>TSubstitution - Missense
BPIENSG00000101425ENST00000262865p.?c.769-6C>TUnknown
HOXD8ENSG00000175879ENST00000313173p.P110Lc.329C>TSubstitution - Missense
TSPYL2ENSG00000184205ENST00000375442p.T148Ic.443C>TSubstitution - Missense
ENST00000234388p.T314Tc.942G>TSubstitution - coding silent
RSPH10B2ENSG00000169402ENST00000297186p.?c.1609+4A>GUnknown
CNTLNENSG00000044459ENST00000380647p.L1174Rc.3521T>GSubstitution - Missense
ACPPENSG00000014257ENST00000351273p.L93Fc.279G>CSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000378944p.Q641*c.1921C>TSubstitution - Nonsense
TCERG1ENSG00000113649ENST00000296702p.T393Tc.1179A>GSubstitution - coding silent
DDX31ENSG00000125485ENST00000310532p.D470Nc.1408G>ASubstitution - Missense
JAKMIP2ENSG00000176049ENST00000265272p.?c.2142+1G>CUnknown
STON1-GTF2A1LENSG00000068781ENST00000394754p.Q766Qc.2298A>GSubstitution - coding silent
PRB2ENSG00000121335ENST00000389362p.P195Pc.585A>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.P918Sc.2752C>TSubstitution - Missense
UBXN1ENSG00000162191ENST00000294119p.R135Qc.404G>ASubstitution - Missense
NRXN2ENSG00000110076ENST00000301894p.R628Qc.1883G>ASubstitution - Missense
ADAM10ENSG00000137845ENST00000260408p.D394Gc.1181A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.R478Hc.1433G>ASubstitution - Missense
ATP1B4ENSG00000101892ENST00000361319p.P198Lc.593C>TSubstitution - Missense
AXIN1ENSG00000103126ENST00000262320p.G227Gc.681G>ASubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.S616Sc.1848T>CSubstitution - coding silent
SLC12A7ENSG00000113504ENST00000264930p.R744Wc.2230C>TSubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.A347Tc.1039G>ASubstitution - Missense
INPP5DENSG00000168918ENST00000359570p.S755Sc.2265C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.H386Lc.1157A>TSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.?c.438+8C>TUnknown
SPATA31D1ENSG00000214929ENST00000344803p.S947Lc.2840C>TSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.R1081Qc.3242G>ASubstitution - Missense
NM_017760.4p.H314Yc.940C>TSubstitution - Missense
ENST00000371287p.A77Ac.231A>GSubstitution - coding silent
NEK8ENSG00000160602ENST00000268766p.?c.2051-10T>CUnknown
PUM1ENSG00000134644ENST00000257075p.A1132Ac.3396G>ASubstitution - coding silent
ARSEENSG00000157399ENST00000540563p.M409Ic.1227G>ASubstitution - Missense
INSRRENSG00000027644ENST00000368195p.V179Mc.535G>ASubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.R901Hc.2702G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.E2150delEc.6450_6452delAGADeletion - In frame
TMEM151AENSG00000179292ENST00000327259p.E435Dc.1305A>TSubstitution - Missense
ENST00000389046p.A136Gc.407C>GSubstitution - Missense
MON1BENSG00000103111ENST00000248248p.A407Ac.1221G>ASubstitution - coding silent
KANK1ENSG00000107104ENST00000382303p.H1277Hc.3831C>TSubstitution - coding silent
KIAA0319ENSG00000137261ENST00000378214p.L844Lc.2530C>TSubstitution - coding silent
WIPF2ENSG00000171475ENST00000323571p.K52Mc.155A>TSubstitution - Missense
ENST00000380102_v68p.P362Tc.1084C>ASubstitution - Missense
PASKENSG00000115687ENST00000234040p.T943Pc.2827A>CSubstitution - Missense
ZNF182ENSG00000147118ENST00000376943p.K185Rc.554A>GSubstitution - Missense
ENST00000293813p.T87Tc.261C>TSubstitution - coding silent
GOLPH3ENSG00000113384ENST00000265070p.A295Ac.885G>TSubstitution - coding silent
ENST00000378682p.Q415Hc.1245A>CSubstitution - Missense
PKMYT1ENSG00000127564ENST00000262300p.R101Wc.301C>TSubstitution - Missense
MSL2ENSG00000174579ENST00000309993p.P3Sc.7C>TSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.R1121Qc.3362G>ASubstitution - Missense
BAG6ENSG00000204463ENST00000375976p.M669Ic.2007G>TSubstitution - Missense
WIZENSG00000011451ENST00000263381p.P686Sc.2056C>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.Y1991*c.5973T>GSubstitution - Nonsense
OR1L3ENSG00000171481ENST00000304820p.S156Sc.468T>CSubstitution - coding silent
RHBDF1ENSG00000007384ENST00000454039p.S136Nc.407G>ASubstitution - Missense
CXorf40BENSG00000197021ENST00000462691p.R80*c.238C>TSubstitution - Nonsense
EHMT2ENSG00000204371ENST00000395728p.G1045Sc.3133G>ASubstitution - Missense
DDHD2ENSG00000085788ENST00000397166p.S377Lc.1130C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.L642fs*7c.1924_1927delTTGTDeletion - Frameshift
MYH6ENSG00000197616ENST00000356287p.M1431Ic.4293G>ASubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.T1536Tc.4608C>TSubstitution - coding silent
NRXN2ENSG00000110076ENST00000377551p.R1674Qc.5021G>ASubstitution - Missense
AP4B1ENSG00000134262ENST00000369569p.G580Rc.1738G>ASubstitution - Missense
SLC44A3ENSG00000143036ENST00000271227p.L285Lc.855G>ASubstitution - coding silent
SLC44A3ENSG00000143036ENST00000467909p.L237Lc.711G>ASubstitution - coding silent
ENST00000215591p.M1132fs*11c.3396_3402delGATGCTCDeletion - Frameshift
TTNENSG00000155657ENST00000360870p.Y2605Yc.7815C>TSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.1577-3C>TUnknown
DGCR2ENSG00000070413ENST00000545799p.R237Lc.710G>TSubstitution - Missense
NM_000670.3p.L163Fc.487C>TSubstitution - Missense
ZNF579ENSG00000218891ENST00000325421p.A332Vc.995C>TSubstitution - Missense
ZNF182ENSG00000147118ENST00000396965p.K204Rc.611A>GSubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.G387Sc.1159G>ASubstitution - Missense
SPHK2ENSG00000063176ENST00000245222p.G62Sc.184G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.S947Lc.2840C>TSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.E455Kc.1363G>ASubstitution - Missense
BMP4ENSG00000125378ENST00000559087p.R286Qc.857G>ASubstitution - Missense
RSF1ENSG00000048649ENST00000308488p.E1259Kc.3775G>ASubstitution - Missense
TGM7ENSG00000159495ENST00000452443p.P66Pc.198C>GSubstitution - coding silent
CD151ENSG00000177697ENST00000397420p.?c.277-3_277-2insCUnknown
CASC5ENSG00000137812ENST00000346991p.S25Sc.75A>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.N4111Dc.12331A>GSubstitution - Missense
SNAP25ENSG00000132639ENST00000254976p.M1Lc.1A>CSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.F665Cc.1994T>GSubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.M1147fs*11c.3441_3447delGATGCTCDeletion - Frameshift
ZNF441ENSG00000197044ENST00000357901p.L45Fc.133C>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.?c.226+10C>TUnknown
DMDENSG00000198947ENST00000357033p.P257Sc.769C>TSubstitution - Missense
SHOX2ENSG00000168779ENST00000425436p.H283Hc.849C>TSubstitution - coding silent
BTNL3ENSG00000168903ENST00000342868p.I92Ic.276T>CSubstitution - coding silent
CCDC14ENSG00000175455ENST00000433542p.P220Rc.659C>GSubstitution - Missense
SP140ENSG00000079263ENST00000392045p.W507Cc.1521G>CSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.R1827Qc.5480G>ASubstitution - Missense
DBR1ENSG00000138231ENST00000260803p.E369Kc.1105G>ASubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.M109Ic.327G>TSubstitution - Missense
PGK2ENSG00000170950ENST00000304801p.D290Hc.868G>CSubstitution - Missense
NELL2ENSG00000184613ENST00000395487p.W577Rc.1729T>CSubstitution - Missense
DENND5BENSG00000170456ENST00000354285p.H715Rc.2144A>GSubstitution - Missense
PIF1ENSG00000140451ENST00000333425p.E156Kc.466G>ASubstitution - Missense
FCGR2BENSG00000072694ENST00000428605p.S177Lc.530C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369351p.R478Hc.1433G>ASubstitution - Missense
SRCIN1ENSG00000017373ENST00000264659p.V858Lc.2572G>TSubstitution - Missense
BRD4ENSG00000141867ENST00000360016p.K572Kc.1716G>ASubstitution - coding silent
TRIM13ENSG00000204977ENST00000356017p.E83*c.247G>TSubstitution - Nonsense
PSTPIP1ENSG00000140368ENST00000558012p.E214Ec.642G>ASubstitution - coding silent
OR4E2ENSG00000221977ENST00000408935p.G204Ec.611G>ASubstitution - Missense
PDE2AENSG00000186642ENST00000334456p.?c.1922+9G>CUnknown
HMX2ENSG00000188816ENST00000339992p.G101Gc.303C>ASubstitution - coding silent
CDH23ENSG00000107736ENST00000398809p.T332Mc.995C>TSubstitution - Missense
CCPG1ENSG00000260916ENST00000310958p.S104Fc.311C>TSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.P1534Qc.4601C>ASubstitution - Missense
ZNF177ENSG00000188629ENST00000434737p.?c.161-9C>TUnknown
PGM1ENSG00000079739ENST00000371084p.A11_Q13delAYQc.27_35delCCAGGCGTADeletion - In frame
DOCK8ENSG00000107099ENST00000432829p.A294Tc.880G>ASubstitution - Missense
CTCFLENSG00000124092ENST00000423479p.?c.1988+172_2103del2133Unknown
UGT2B11ENSG00000213759ENST00000446444p.E142Dc.426G>CSubstitution - Missense
STMN2ENSG00000104435ENST00000220876p.E140Gc.419A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2216Lc.6647C>TSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.I1008Vc.3022A>GSubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.T1216Ac.3646A>GSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.V164Mc.490G>ASubstitution - Missense
ENST00000347493p.L658Wc.1973T>GSubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.S347Sc.1041T>CSubstitution - coding silent
PALM2-AKAP2ENSG00000157654ENST00000374530p.T480Tc.1440C>GSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.Y1238Hc.3712T>CSubstitution - Missense
NM_058004.1p.M109Ic.327G>TSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.?c.2277-9C>AUnknown
NOTCH3ENSG00000074181ENST00000263388p.G1679Rc.5035G>CSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.W2372Sc.7115G>CSubstitution - Missense
LRRC56ENSG00000161328ENST00000270115p.V18Fc.52G>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.V1133Fc.3397G>TSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.V255Lc.763G>CSubstitution - Missense
EIF2AK1ENSG00000086232ENST00000536084p.?c.420-8T>CUnknown
ENST00000331986p.S1142Sc.3426T>GSubstitution - coding silent
TRIM13ENSG00000204977ENST00000356017p.D112Yc.334G>TSubstitution - Missense
TRIM13ENSG00000204977ENST00000420995p.D140Yc.418G>TSubstitution - Missense
CYP1A1ENSG00000140465ENST00000395048p.W131Gc.391T>GSubstitution - Missense
C3AR1ENSG00000171860ENST00000307637p.V47Gc.140T>GSubstitution - Missense
OR2AT4ENSG00000171561ENST00000305159p.L273Vc.817C>GSubstitution - Missense
KRT6AENSG00000205420ENST00000330722p.I395Ic.1185C>TSubstitution - coding silent
DENND5BENSG00000170456ENST00000389082p.H693Rc.2078A>GSubstitution - Missense
NM_004855.3p.K466Nc.1398A>TSubstitution - Missense
FAM73AENSG00000180488ENST00000370791p.D524Nc.1570G>ASubstitution - Missense
DCAF12L2ENSG00000198354ENST00000538699p.V112Vc.336G>CSubstitution - coding silent
TTLL9ENSG00000131044ENST00000375938p.?c.808-6G>AUnknown
RFPL3ENSG00000128276ENST00000249007p.D158Gc.473A>GSubstitution - Missense
ENST00000285635p.R240Gc.718C>GSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.G1085Rc.3253G>ASubstitution - Missense
HSF4ENSG00000102878ENST00000264009p.R426Rc.1278G>CSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.A340Ac.1020G>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.I711Tc.2132T>CSubstitution - Missense
BRD4ENSG00000141867ENST00000263377p.T573Kc.1718C>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.I1097Tc.3290T>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.P2863Sc.8587C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V3043Dc.9128T>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000341502p.P702Pc.2106A>GSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.R832Cc.2494C>TSubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.N1057Nc.3171T>CSubstitution - coding silent
NDUFA12ENSG00000184752ENST00000327772p.R60Qc.179G>ASubstitution - Missense
ENST00000373484_v70p.Y459Yc.1377T>CSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.P1957Pc.5871T>CSubstitution - coding silent
CDK11AENSG00000008128ENST00000357760p.G521Rc.1561G>CSubstitution - Missense
CFHR2ENSG00000080910ENST00000367415p.?c.253+1G>CUnknown
ATP4BENSG00000186009ENST00000335288p.E209Kc.625G>ASubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.E2309Dc.6927A>TSubstitution - Missense
ENST00000405167p.S2216Lc.6647C>TSubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.L36_P37insLc.109_110insTGCInsertion - In frame
ALG1LENSG00000189366ENST00000340333p.G80Rc.238G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.Q1752Hc.5256A>CSubstitution - Missense
WDR38ENSG00000136918ENST00000373574p.N25Sc.74A>GSubstitution - Missense
ADARENSG00000160710ENST00000292205p.D167Dc.501T>CSubstitution - coding silent
SLC5A10ENSG00000154025ENST00000317977p.?c.1595-7C>TUnknown
JAKMIP2ENSG00000176049ENST00000507386p.?c.2079+1G>CUnknown
MYO10ENSG00000145555ENST00000513610p.?c.2277-9C>AUnknown
APLFENSG00000169621ENST00000303795p.T442Mc.1325C>TSubstitution - Missense
SLC16A12ENSG00000152779ENST00000341233p.H388Hc.1164C>TSubstitution - coding silent
PARD3ENSG00000148498ENST00000374789p.R1226Wc.3676C>TSubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.G533Sc.1597G>ASubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.Y52Cc.155A>GSubstitution - Missense
IL24ENSG00000162892ENST00000294984p.Q98Hc.294G>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.S2213Gc.6637A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R2604Gc.7810A>GSubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.S1047Sc.3141T>CSubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.K662Rc.1985A>GSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.?c.1606-1G>AUnknown
WNT9BENSG00000158955ENST00000290015p.D56Dc.168C>TSubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.P1881Lc.5642C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382286p.H189Hc.567C>TSubstitution - coding silent
CEP250ENSG00000126001ENST00000397527p.A569Vc.1706C>TSubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.L303*c.908T>ASubstitution - Nonsense
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
ENST00000313019p.H118Hc.354C>TSubstitution - coding silent
NGEFENSG00000066248ENST00000264051p.P81Pc.243C>TSubstitution - coding silent
SH3KBP1ENSG00000147010ENST00000379698p.?c.692-7C>AUnknown
DMDENSG00000198947ENST00000357033p.Q1756Hc.5268A>CSubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.T366Sc.1096A>TSubstitution - Missense
STAG1ENSG00000118007ENST00000383202p.A482Ac.1446C>GSubstitution - coding silent
TRIP13ENSG00000071539ENST00000166345p.?c.608+10G>AUnknown
GJA10ENSG00000135355ENST00000369352p.K208Tc.623A>CSubstitution - Missense
SKILENSG00000136603ENST00000259119p.G337Rc.1009G>ASubstitution - Missense
ZNF285ENSG00000267508ENST00000330997p.C374Sc.1120T>ASubstitution - Missense
GOLPH3LENSG00000143457ENST00000427665p.D267Gc.800A>GSubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.H1819Qc.5457C>ASubstitution - Missense
ENST00000405167p.V3043Dc.9128T>ASubstitution - Missense
BRD4ENSG00000141867ENST00000371835p.T573Kc.1718C>ASubstitution - Missense
BRD4ENSG00000141867ENST00000263377p.K572Kc.1716G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.P1875Pc.5625C>TSubstitution - coding silent
ZNF226ENSG00000167380ENST00000454662p.C561Gc.1681T>GSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.N1727Nc.5181T>CSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.G752Cc.2254G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.G752Cc.2254G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.G752Cc.2254G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.I1097Tc.3290T>CSubstitution - Missense
ENST00000400460p.T240Mc.719C>TSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.K1048Kc.3144A>GSubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.Y1504Fc.4511A>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.K1451Kc.4353A>GSubstitution - coding silent
NDRG1ENSG00000104419ENST00000323851p.G313Ec.938G>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.E1324Kc.3970G>ASubstitution - Missense
TSNARE1ENSG00000171045ENST00000307180p.V182delVc.543_545delTGTDeletion - In frame
DOLKENSG00000175283ENST00000372586p.G18Rc.52G>ASubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.L1045Lc.3133T>CSubstitution - coding silent
GLRA3ENSG00000145451ENST00000274093p.R424Rc.1272G>CSubstitution - coding silent
HCN1ENSG00000164588ENST00000303230p.Q617Lc.1850A>TSubstitution - Missense
HLA-DQB1ENSG00000179344ENST00000399084p.T53Tc.159G>CSubstitution - coding silent
GPR111ENSG00000164393ENST00000398742p.A351Tc.1051G>ASubstitution - Missense
GPR111ENSG00000164393ENST00000296862p.A419Tc.1255G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.T337Mc.1010C>TSubstitution - Missense
SLC16A12ENSG00000152779ENST00000371790p.H418Hc.1254C>TSubstitution - coding silent
ENST00000326910p.Y88*c.264C>ASubstitution - Nonsense
OR5J2ENSG00000174957ENST00000312298p.I34Fc.100A>TSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.P216Pc.648A>TSubstitution - coding silent
ADARENSG00000160710ENST00000292205p.E175*c.523G>TSubstitution - Nonsense
ADARENSG00000160710ENST00000292205p.Q163Hc.489G>CSubstitution - Missense
ADARENSG00000160710ENST00000292205p.T632Ac.1894A>GSubstitution - Missense
CD1EENSG00000158488ENST00000434258p.S47Cc.139A>TSubstitution - Missense
NFASCENSG00000163531ENST00000367172p.V1148Fc.3442G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.T822Sc.2465C>GSubstitution - Missense
EVI5ENSG00000067208ENST00000543509p.K406Kc.1218A>GSubstitution - coding silent
HEATR5AENSG00000129493ENST00000404677p.S1053Sc.3159T>CSubstitution - coding silent
PIGBENSG00000069943ENST00000164305p.K466Nc.1398A>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.H386Lc.1157A>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.H386Lc.1157A>TSubstitution - Missense
BRD4ENSG00000141867ENST00000360016p.T573Kc.1718C>ASubstitution - Missense
ENST00000397439_v70p.?c.692-5C>TUnknown
SPHK2ENSG00000063176ENST00000340932p.G26Sc.76G>ASubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.N483Yc.1447A>TSubstitution - Missense
ZFP36ENSG00000128016ENST00000597629p.L9Lc.25C>TSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359689p.P424Sc.1270C>TSubstitution - Missense
TTLL9ENSG00000131044ENST00000375922p.?c.634-6G>AUnknown
TTLL9ENSG00000131044ENST00000310998p.?c.703-6G>AUnknown
ITGAVENSG00000138448ENST00000433736p.V883Ac.2648T>CSubstitution - Missense
SH3BP2ENSG00000087266ENST00000503393p.R545Rc.1633C>ASubstitution - coding silent
OR5J2ENSG00000174957ENST00000312298p.I34fs*86c.100_106ATTTACG>TTComplex - frameshift
TCF7L2ENSG00000148737ENST00000352065p.M335fs*3c.1003_1006delATGTDeletion - Frameshift
MAPKAPK5ENSG00000089022ENST00000551404p.?c.36+9G>AUnknown
MAPKAPK5ENSG00000089022ENST00000551404p.A383Ac.1149C>TSubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.T194Ic.581C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.T34Tc.102A>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.G3151Dc.9452G>ASubstitution - Missense
NCAPG2ENSG00000146918ENST00000409423p.H314Yc.940C>TSubstitution - Missense
ENST00000372155p.D470Nc.1408G>ASubstitution - Missense
NOL6ENSG00000165271ENST00000379471p.D725Nc.2173G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.G533Sc.1597G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.P235Sc.703C>TSubstitution - Missense
ATP1B4ENSG00000101892ENST00000218008p.P202Lc.605C>TSubstitution - Missense
TCF7L2ENSG00000148737ENST00000369397p.M335fs*3c.1003_1006delATGTDeletion - Frameshift
PDE4DIPENSG00000178104ENST00000369356p.R478Hc.1433G>ASubstitution - Missense
CCR5ENSG00000160791ENST00000343801p.V131Fc.391G>TSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.P308Sc.922C>TSubstitution - Missense
ACTL6BENSG00000077080ENST00000160382p.P217Sc.649C>TSubstitution - Missense
EIF2AK1ENSG00000086232ENST00000199389p.?c.792-8T>CUnknown
FREM1ENSG00000164946ENST00000380894p.P414Sc.1240C>TSubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.P1878Sc.5632C>TSubstitution - Missense
CDKN2BENSG00000147883ENST00000276925p.E63fs*>77c.188_189insCTInsertion - Frameshift
MSNENSG00000147065ENST00000360270p.R371Rc.1113G>ASubstitution - coding silent
STRN4ENSG00000090372ENST00000263280p.N476Yc.1426A>TSubstitution - Missense
SPHK2ENSG00000063176ENST00000443164p.G124Sc.370G>ASubstitution - Missense
ENST00000409602_v68p.A984Ac.2952G>ASubstitution - coding silent
ACPPENSG00000014257ENST00000336375p.L93Fc.279G>CSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.I40Lc.118A>CSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.G76Vc.227G>TSubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.?c.181-9C>TUnknown
RTTNENSG00000176225ENST00000255674p.K1894Kc.5682A>GSubstitution - coding silent
MYH9ENSG00000100345ENST00000216181p.P332Lc.995C>TSubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.?c.354+2T>CUnknown
RFX6ENSG00000185002ENST00000332958p.N79Nc.237C>TSubstitution - coding silent
RREB1ENSG00000124782ENST00000379938p.A340Ac.1020G>ASubstitution - coding silent
SUSD1ENSG00000106868ENST00000374270p.G260Dc.779G>ASubstitution - Missense
AKAP2ENSG00000241978ENST00000374525p.T338Tc.1014C>GSubstitution - coding silent
TRDNENSG00000186439ENST00000542443p.E162Dc.486A>CSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.T474Ac.1420A>GSubstitution - Missense
NM_139285.1p.S387Sc.1161A>GSubstitution - coding silent
TTC7AENSG00000068724ENST00000319190p.L685Lc.2055G>ASubstitution - coding silent
PREPLENSG00000138078ENST00000260648p.Y420Cc.1259A>GSubstitution - Missense
LGI4ENSG00000153902ENST00000310123p.A501Vc.1502C>TSubstitution - Missense
ZFP36ENSG00000128016ENST00000248673p.L3Lc.7C>TSubstitution - coding silent
ADCYAP1R1ENSG00000078549ENST00000304166p.?c.158-5C>TUnknown
POLMENSG00000122678ENST00000242248p.?c.1399-9C>GUnknown
MTMR1ENSG00000063601ENST00000370390p.R642Cc.1924C>TSubstitution - Missense
CXorf40BENSG00000197021ENST00000370404p.R80*c.238C>TSubstitution - Nonsense
AFF2ENSG00000155966ENST00000370460p.I711Tc.2132T>CSubstitution - Missense
GLRA2ENSG00000101958ENST00000355020p.Q355Qc.1065G>ASubstitution - coding silent
GLRA2ENSG00000101958ENST00000218075p.Q355Qc.1065G>ASubstitution - coding silent
PCDHA4ENSG00000204967ENST00000356878p.V590Ac.1769T>CSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.E486Dc.1458G>TSubstitution - Missense
HARS2ENSG00000112855ENST00000230771p.K374Ec.1120A>GSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.V255Lc.763G>CSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.V590Ac.1769T>CSubstitution - Missense
ENST00000274705p.S645Sc.1935G>TSubstitution - coding silent
ENST00000274705p.N546Nc.1638C>TSubstitution - coding silent
ENST00000274705p.R580Rc.1740C>ASubstitution - coding silent
HIST1H2AGENSG00000196787ENST00000359193p.G38Dc.113G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.T475Tc.1425A>GSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.T475Tc.1425A>GSubstitution - coding silent
HLA-AENSG00000206503ENST00000396634p.T34Tc.102A>TSubstitution - coding silent
OR2H1ENSG00000204688ENST00000377132p.C239fs*52c.715delTDeletion - Frameshift
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.S126Rc.378C>ASubstitution - Missense
BAG6ENSG00000204463ENST00000404765p.M705Ic.2115G>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.K1030Tc.3089A>CSubstitution - Missense
CAMK2BENSG00000058404ENST00000395749p.E467Gc.1400A>GSubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.A620Sc.1858G>TSubstitution - Missense
C7orf43ENSG00000146826ENST00000316937p.A264Tc.790G>ASubstitution - Missense
DHODHENSG00000102967ENST00000219240p.A218Ac.654C>TSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.G178Sc.532G>ASubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.R538Qc.1613G>ASubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.R538Qc.1613G>ASubstitution - Missense
CLEC17AENSG00000187912ENST00000417570p.?c.743-5C>TUnknown
PGLYRP2ENSG00000161031ENST00000340880p.I331Tc.992T>CSubstitution - Missense
PGLYRP2ENSG00000161031ENST00000292609p.I331Tc.992T>CSubstitution - Missense
WIZENSG00000011451ENST00000389282p.P1543Sc.4627C>TSubstitution - Missense
ZC2HC1AENSG00000104427ENST00000263849p.P224Ac.670C>GSubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.?c.1065+6C>TUnknown
NEDD4LENSG00000049759ENST00000382850p.?c.1065+6C>TUnknown
CXXC1ENSG00000154832ENST00000285106p.T576Tc.1728G>CSubstitution - coding silent
ENST00000375935p.?c.775-6G>AUnknown
HIRAENSG00000100084ENST00000263208p.C64Fc.191G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.T943Pc.2827A>CSubstitution - Missense
PASKENSG00000115687ENST00000234040p.H934Qc.2802C>ASubstitution - Missense
TBC1D23ENSG00000036054ENST00000394144p.?c.1688-4A>TUnknown
TBC1D23ENSG00000036054ENST00000344949p.?c.1643-4A>TUnknown
ADCY9ENSG00000162104ENST00000294016p.G1090Gc.3270G>ASubstitution - coding silent
ANKRD11ENSG00000167522ENST00000301030p.A615Tc.1843G>ASubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.N553fs*4c.1659_1660delCADeletion - Frameshift
ZNF432ENSG00000256087ENST00000221315p.S414Tc.1241G>CSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359125p.P424Sc.1270C>TSubstitution - Missense
LIPIENSG00000188992ENST00000344577p.G137_A138insGc.406_407insGGGInsertion - In frame
RFPL3ENSG00000128276ENST00000397468p.D129Gc.386A>GSubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.D80Yc.238G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2885Dc.8655C>TSubstitution - coding silent
ENST00000405167p.D2885Dc.8655C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.L2081Ic.6241C>ASubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.R1031Rc.3093G>ASubstitution - coding silent
TRMT44ENSG00000155275ENST00000389737p.R632Gc.1894C>GSubstitution - Missense
TRMT44ENSG00000155275ENST00000513449p.R391Gc.1171C>GSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.L232Lc.696C>TSubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.L232Lc.696C>TSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.S616Sc.1848T>CSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.P253Sc.757C>TSubstitution - Missense
MED14ENSG00000180182ENST00000324817p.G605Rc.1813G>ASubstitution - Missense
CLCN5ENSG00000171365ENST00000376088p.?c.17-10T>CUnknown
ZNF157ENSG00000147117ENST00000377073p.C105Sc.314G>CSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.L554Lc.1662C>TSubstitution - coding silent
FUT6ENSG00000156413ENST00000286955p.I106Ic.318C>TSubstitution - coding silent
DLG4ENSG00000132535ENST00000302955p.T44Tc.132C>TSubstitution - coding silent
ARMC7ENSG00000125449ENST00000245543p.R179Qc.536G>ASubstitution - Missense
ROPN1LENSG00000145491ENST00000274134p.C149Cc.447C>TSubstitution - coding silent
DQX1ENSG00000144045ENST00000393951p.D370Ec.1110C>ASubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.P7Sc.19C>TSubstitution - Missense
CAPN7ENSG00000131375ENST00000253693p.G442Rc.1324G>ASubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.C236Yc.707G>ASubstitution - Missense
HECAENSG00000112406ENST00000367658p.L440Lc.1320C>GSubstitution - coding silent
C7orf31ENSG00000153790ENST00000283905p.Y46Yc.138T>CSubstitution - coding silent
STK31ENSG00000196335ENST00000355870p.M1007Lc.3019A>TSubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.I518Vc.1552A>GSubstitution - Missense
SH3KBP1ENSG00000147010ENST00000379697p.?c.935-7C>AUnknown
NHSENSG00000188158ENST00000380060p.G469Vc.1406G>TSubstitution - Missense
XM_293407.3p.L97Lc.289T>CSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q1752Hc.5256A>CSubstitution - Missense
C1QL2ENSG00000144119ENST00000272520p.R200Cc.598C>TSubstitution - Missense
RUFY4ENSG00000188282ENST00000374155p.P596Lc.1787C>TSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.Q1041Qc.3123A>GSubstitution - coding silent
NCLENSG00000115053ENST00000322723p.L409Lc.1225T>CSubstitution - coding silent
NGEFENSG00000066248ENST00000264051p.V321Ic.961G>ASubstitution - Missense
NGEFENSG00000066248ENST00000373552p.V229Ic.685G>ASubstitution - Missense
ALPPENSG00000163283ENST00000392027p.M276Lc.826A>CSubstitution - Missense
PAPOLGENSG00000115421ENST00000238714p.R736Rc.2208G>CSubstitution - coding silent
CCDC14ENSG00000175455ENST00000310351p.P101Rc.302C>GSubstitution - Missense
CCDC14ENSG00000175455ENST00000488653p.P261Rc.782C>GSubstitution - Missense
PRR5ENSG00000186654ENST00000336985p.R239Cc.715C>TSubstitution - Missense
PRR5ENSG00000186654ENST00000432186p.R230Cc.688C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.?c.438+8C>TUnknown
LARS2ENSG00000011376ENST00000265537p.D779Ec.2337T>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.A54Ac.162C>ASubstitution - coding silent
AK026345.1p.E156Kc.466G>ASubstitution - Missense
UPF3AENSG00000169062ENST00000375299p.R207Ic.620G>TSubstitution - Missense
ARHGAP11AENSG00000198826ENST00000361627p.M591Vc.1771A>GSubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.K662Rc.1985A>GSubstitution - Missense
MLKLENSG00000168404ENST00000308807p.C24Sc.70T>ASubstitution - Missense
MSLNENSG00000102854ENST00000382862p.?c.1808-5T>GUnknown
ENST00000446427p.?c.1808-5T>GUnknown
CDC27ENSG00000004897ENST00000531206p.G478Ac.1433G>CSubstitution - Missense
WNT9BENSG00000158955ENST00000575372p.D62Dc.186C>TSubstitution - coding silent
SNAP25ENSG00000132639ENST00000304886p.M1Lc.1A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y2605Yc.7815C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.Y2559Yc.7677C>TSubstitution - coding silent
ENST00000356127p.Y2605Yc.7815C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.Y2559Yc.7677C>TSubstitution - coding silent
NM_003319p.Y2559Yc.7677C>TSubstitution - coding silent
ENST00000356127p.R7112Cc.21334C>TSubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.G1212Dc.3635G>ASubstitution - Missense
ZSWIM2ENSG00000163012ENST00000295131p.W583Rc.1747T>CSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.?c.1606-1G>AUnknown
DCAF12L2ENSG00000198354ENST00000360028p.V112Vc.336G>CSubstitution - coding silent
GTF2F1ENSG00000125651ENST00000394456p.H208Hc.624C>TSubstitution - coding silent
FBN3ENSG00000142449ENST00000270509p.C1956Yc.5867G>ASubstitution - Missense
NM_212559.1p.L212Lc.634C>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
SLC5A10ENSG00000154025ENST00000395647p.?c.1733-7C>TUnknown
BCAS1ENSG00000064787ENST00000371440p.H337Hc.1011C>TSubstitution - coding silent
ATP9AENSG00000054793ENST00000338821p.I554Ic.1662C>TSubstitution - coding silent
ADNPENSG00000101126ENST00000349014p.E925Qc.2773G>CSubstitution - Missense
PCK1ENSG00000124253ENST00000319441p.L494Lc.1482G>ASubstitution - coding silent
NOL6ENSG00000165271ENST00000297990p.D725Nc.2173G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.A362Tc.1084G>ASubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.R229Rc.685A>CSubstitution - coding silent
CACNA1DENSG00000157388ENST00000288139p.R864Hc.2591G>ASubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.R844Hc.2531G>ASubstitution - Missense
DOK2ENSG00000147443ENST00000276420p.G388Rc.1162G>CSubstitution - Missense
LPLENSG00000175445ENST00000311322p.V463Mc.1387G>ASubstitution - Missense
TSTD2ENSG00000136925ENST00000341170p.H100Rc.299A>GSubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.H468Rc.1403A>GSubstitution - Missense
ENST00000425519p.K1163fs*13c.3483delADeletion - Frameshift
ACTG1ENSG00000184009ENST00000331925p.P307Pc.921G>ASubstitution - coding silent
ZNF441ENSG00000197044ENST00000357901p.L112Fc.334C>TSubstitution - Missense
KRTAP10-7ENSG00000205441ENST00000380102p.P362Tc.1084C>ASubstitution - Missense
NM_001002021.1p.Y561Yc.1683C>TSubstitution - coding silent
ENST00000380014p.G193fs*>90c.573_574insCInsertion - Frameshift
ENST00000434864p.M29Lc.85A>CSubstitution - Missense
SDAD1ENSG00000198301ENST00000356260p.N664fs*17c.1991delADeletion - Frameshift
ENST00000312412_v68p.R221Qc.662G>ASubstitution - Missense
ENSG00000174093ENST00000312412p.R221Qc.662G>ASubstitution - Missense
ENSG00000174093ENST00000312412p.T141Mc.422C>TSubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.R6Gc.16A>GSubstitution - Missense
PIP4K2BENSG00000141720ENST00000269554p.K249Kc.747G>ASubstitution - coding silent
DOPEY2ENSG00000142197ENST00000399151p.T1832Sc.5495C>GSubstitution - Missense
DALRD3ENSG00000178149ENST00000341949p.E250Kc.748G>ASubstitution - Missense
DALRD3ENSG00000178149ENST00000395462p.E83Kc.247G>ASubstitution - Missense
FRYLENSG00000075539ENST00000503238p.Y2185Yc.6555T>CSubstitution - coding silent
MST1RENSG00000164078ENST00000296474p.Y44*c.132C>GSubstitution - Nonsense
OR9A4ENSG00000258083ENST00000548136p.I157Ic.471C>TSubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.K1762Ec.5284A>GSubstitution - Missense
NM_147171.1p.K1774Ec.5320A>GSubstitution - Missense
MROH6ENSG00000204839ENST00000398882p.A11Ac.33C>TSubstitution - coding silent
MROH6ENSG00000204839ENST00000398882p.A11Ac.33C>TSubstitution - coding silent
ENST00000357934p.F791Lc.2371T>CSubstitution - Missense
MICU3ENSG00000155970ENST00000318063p.L195Lc.585C>TSubstitution - coding silent
ENST00000334070p.E43Qc.127G>CSubstitution - Missense
PAHENSG00000171759ENST00000553106p.E280Kc.838G>ASubstitution - Missense
NELL2ENSG00000184613ENST00000429094p.W578Rc.1732T>CSubstitution - Missense
NKAIN1ENSG00000084628ENST00000373736p.R124Hc.371G>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.C33Yc.98G>ASubstitution - Missense
ZMYM4ENSG00000146463ENST00000314607p.C389Rc.1165T>CSubstitution - Missense
ENST00000314607_v71p.C389Rc.1165T>CSubstitution - Missense
MEGF6ENSG00000162591ENST00000356575p.G305Vc.914G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.P958Sc.2872C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.R1955Wc.5863C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.R1995Wc.5983C>TSubstitution - Missense
FCGR2BENSG00000072694ENST00000358671p.S177Lc.530C>TSubstitution - Missense
PTPN5ENSG00000110786ENST00000358540p.?c.1081-4G>AUnknown
PTPN5ENSG00000110786ENST00000358540p.?c.1081-4G>AUnknown
FAM129AENSG00000135842ENST00000367511p.G802Wc.2404G>TSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.V1167Ac.3500T>CSubstitution - Missense
ANKK1ENSG00000170209ENST00000303941p.P148Lc.443C>TSubstitution - Missense
ALKBH8ENSG00000137760ENST00000428149p.P346Pc.1038G>ASubstitution - coding silent
ALKBH8ENSG00000137760ENST00000428149p.P346Pc.1038G>ASubstitution - coding silent
KIAA1549LENSG00000110427ENST00000321505p.A1127Vc.3380C>TSubstitution - Missense
KIAA1549LENSG00000110427ENST00000265654p.A1133Vc.3398C>TSubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.P295Ac.883C>GSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.P245Ac.733C>GSubstitution - Missense
WNT2BENSG00000134245ENST00000369684p.G241Gc.723C>TSubstitution - coding silent
KCNA10ENSG00000143105ENST00000369771p.R135Wc.403C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.T822Sc.2465C>GSubstitution - Missense
SU_SMG1p.S1493*c.4478C>GSubstitution - Nonsense
SMG1ENSG00000157106ENST00000446231p.S1497*c.4490C>GSubstitution - Nonsense
SPTLC2ENSG00000100596ENST00000216484p.T241Tc.723G>ASubstitution - coding silent
RTN3ENSG00000133318ENST00000339997p.D425Nc.1273G>ASubstitution - Missense
ENST00000398860p.T339Mc.1016C>TSubstitution - Missense
CDH23ENSG00000107736ENST00000461841p.T377Mc.1130C>TSubstitution - Missense
KCNK4ENSG00000182450ENST00000422670p.P331Lc.992C>TSubstitution - Missense
FKBP2ENSG00000173486ENST00000309366p.E26Qc.76G>CSubstitution - Missense
GNL2ENSG00000134697ENST00000373062p.N13Nc.39C>TSubstitution - coding silent
ENST00000242630p.A82Gc.245C>GSubstitution - Missense
NM_000036.1p.G213Sc.637G>ASubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.G246Sc.736G>ASubstitution - Missense
GOLPH3LENSG00000143457ENST00000271732p.D245Gc.734A>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2637Vc.7910G>TSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.A1008Ac.3024A>GSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000280083p.P702Pc.2106A>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000357798p.S606Rc.1818C>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.S587Rc.1761C>GSubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.L31Lc.93A>GSubstitution - coding silent
ENST00000389961_v65p.S1047Sc.3141T>CSubstitution - coding silent
FLAD1ENSG00000160688ENST00000292180p.A294Tc.880G>ASubstitution - Missense
FLAD1ENSG00000160688ENST00000405236p.A195Tc.583G>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.T589Ac.1765A>GSubstitution - Missense
ADARENSG00000160710ENST00000368474p.E132*c.394G>TSubstitution - Nonsense
ADARENSG00000160710ENST00000368474p.D124Dc.372T>CSubstitution - coding silent
CHRNB2ENSG00000160716ENST00000368476p.V469Vc.1407C>TSubstitution - coding silent
CHRNB2ENSG00000160716ENST00000368476p.S494*c.1481C>GSubstitution - Nonsense
NFASCENSG00000163531ENST00000339876p.V1041Fc.3121G>TSubstitution - Missense
ENST00000280576p.P126Qc.377C>ASubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.N1014Tc.3041A>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.S2213Gc.6637A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.S2107Gc.6319A>GSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.Y1955*c.5865T>GSubstitution - Nonsense
OR2L2ENSG00000203663ENST00000366479p.V247Ac.740T>CSubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.P950Pc.2850G>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.P6501Sc.19501C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000458046p.P135Sc.403C>TSubstitution - Missense
RIN3ENSG00000100599ENST00000216487p.E107Gc.320A>GSubstitution - Missense
PIF1ENSG00000140451ENST00000268043p.E156Kc.466G>ASubstitution - Missense
CDH1ENSG00000039068ENST00000261769p.T522Ic.1565C>TSubstitution - Missense
PTGDRENSG00000168229ENST00000306051p.R310Qc.929G>ASubstitution - Missense
C11orf30ENSG00000158636ENST00000334736p.R1111Cc.3331C>TSubstitution - Missense
HUS1BENSG00000188996ENST00000380907p.V119Lc.355G>CSubstitution - Missense
DIRAS1ENSG00000176490ENST00000323469p.A15Vc.44C>TSubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.A398Tc.1192G>ASubstitution - Missense
IL17AENSG00000112115ENST00000340057p.L76Fc.226C>TSubstitution - Missense
ENAHENSG00000154380ENST00000366844p.R195fs*79c.584_585delGADeletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.S5509Sc.16527T>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S5509Sc.16527T>GSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.R388Hc.1163G>ASubstitution - Missense
OR6C74ENSG00000197706ENST00000343870p.V74Fc.220G>TSubstitution - Missense
SH2D7ENSG00000183476ENST00000328828p.*452Gc.1354T>GNonstop extension
SH2D7ENSG00000183476ENST00000328828p.*316Gc.946T>GNonstop extension
PSTPIP1ENSG00000140368ENST00000558012p.E214Ec.642G>ASubstitution - coding silent
TRIM13ENSG00000204977ENST00000420995p.E80*c.238G>TSubstitution - Nonsense
TRIM13ENSG00000204977ENST00000356017p.K87Kc.261G>ASubstitution - coding silent
TRIM13ENSG00000204977ENST00000420995p.K84Kc.252G>ASubstitution - coding silent
TRIM13ENSG00000204977ENST00000420995p.D109Yc.325G>TSubstitution - Missense
TRIM13ENSG00000204977ENST00000356017p.D143Yc.427G>TSubstitution - Missense
ENST00000202788p.?c.36+9G>AUnknown
ENST00000202788p.A383Ac.1149C>TSubstitution - coding silent
ENST00000428907p.A383Ac.1149C>TSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.E2188delEc.6564_6566delAGADeletion - In frame
NM_015057.1p.E2150delEc.6450_6452delAGADeletion - In frame
ENST00000359888p.C340Wc.1020C>GSubstitution - Missense
OR13A1ENSG00000256574ENST00000553795p.S289Nc.866G>ASubstitution - Missense
TMEM72ENSG00000187783ENST00000389583p.V101Vc.303G>TSubstitution - coding silent
TMEM72ENSG00000187783ENST00000389583p.V101Vc.303G>TSubstitution - coding silent
CYP2C9ENSG00000138109ENST00000260682p.R132Wc.394C>TSubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.?c.1935+1G>TUnknown
MYOFENSG00000138119ENST00000371501p.V1444Mc.4330G>ASubstitution - Missense
OR8B2ENSG00000204293ENST00000375013p.F49Fc.147C>TSubstitution - coding silent
CLMPENSG00000166250ENST00000448775p.P181Lc.542C>TSubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.I198Tc.593T>CSubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.I198Tc.593T>CSubstitution - Missense
OR4B1ENSG00000175619ENST00000309562p.R258*c.772C>TSubstitution - Nonsense
INSRRENSG00000027644ENST00000368195p.V179Mc.535G>ASubstitution - Missense
CD1EENSG00000158488ENST00000368167p.S49Cc.145A>TSubstitution - Missense
B4GALNT3ENSG00000139044ENST00000266383p.R686Rc.2058G>CSubstitution - coding silent
PLEKHA5ENSG00000052126ENST00000429027p.P1044Rc.3131C>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.V1381Vc.4143G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.V1108Vc.3324G>ASubstitution - coding silent
LIMA1ENSG00000050405ENST00000341247p.P79Pc.237A>GSubstitution - coding silent
AENENSG00000181026ENST00000332810p.R125Wc.373C>TSubstitution - Missense
AENENSG00000181026ENST00000379231p.R125Wc.373C>TSubstitution - Missense
PDE2AENSG00000186642ENST00000444035p.?c.1895+9G>CUnknown
ASPGENSG00000166183ENST00000551177p.?c.192-7_192-3delcccgcUnknown
ENST00000299234p.S90fs*1c.269_273delCCCGCDeletion - Frameshift
CKBENSG00000166165ENST00000348956p.D210Yc.628G>TSubstitution - Missense
PSME2ENSG00000100911ENST00000216802p.F212Sc.635T>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.L927Lc.2779C>TSubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.L927Lc.2779C>TSubstitution - coding silent
PPP1CAENSG00000172531ENST00000376745p.C158Yc.473G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.H1819Qc.5457C>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.D512Ec.1536C>GSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.A1127Ac.3381G>ASubstitution - coding silent
TCF7L2ENSG00000148737ENST00000543371p.M358fs*3c.1072_1075delATGTDeletion - Frameshift
TCF7L2ENSG00000148737ENST00000355717p.M382fs*3c.1144_1147delATGTDeletion - Frameshift
ZNF669ENSG00000188295ENST00000343381p.V461Mc.1381G>ASubstitution - Missense
PDCD11ENSG00000148843ENST00000369797p.D1290Nc.3868G>ASubstitution - Missense


COSMIC

3 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
NM_006218.1p.N345Kc.1035T>ASubstitution - Missense18676830
CDH1ENSG00000039068ENST00000261769p.T522Ic.1565C>TSubstitution - Missense19593635
BRCA1ENSG00000012048ENST00000357654p.S1140Gc.3418A>GSubstitution - Missense19593635