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CL-40 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

773 mutations reported
241 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
DAG1ENSG00000173402ENST00000308775p.A184Ac.552G>ASubstitution - coding silent
NM_003319p.R12650Wc.37948C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R12842Wc.38524C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R12775Wc.38323C>TSubstitution - Missense
MAP2K7ENSG00000076984ENST00000397979p.T275Mc.824C>TSubstitution - Missense
ENST00000237841p.E77Dc.231G>CSubstitution - Missense
NM_016575.1p.R56Wc.166C>TSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.L97Fc.291G>TSubstitution - Missense
KIF7ENSG00000166813ENST00000394412p.A446Tc.1336G>ASubstitution - Missense
PPFIBP2ENSG00000166387ENST00000299492p.?c.711+8G>AUnknown
APOPT1ENSG00000256053ENST00000247618p.E111Kc.331G>ASubstitution - Missense
ASPGENSG00000166183ENST00000551177p.T503Mc.1508C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.G170_G171insAGGc.511_512insCTGGGGGTGInsertion - In frame
NFATC4ENSG00000100968ENST00000250373p.G107_G108insAGGc.322_323insCTGGGGGTGInsertion - In frame
OR52B1PENSG00000180909ENST00000316506p.I232Ic.696C>TSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.Q4518Kc.13552C>ASubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.V2699Lc.8095G>CSubstitution - Missense
HMGA2ENSG00000149948ENST00000354636p.R75Qc.224G>ASubstitution - Missense
HMGA2ENSG00000149948ENST00000403681p.R75Qc.224G>ASubstitution - Missense
PPM1HENSG00000111110ENST00000228705p.T270Tc.810G>ASubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.D2366Nc.7096G>ASubstitution - Missense
PYROXD1ENSG00000121350ENST00000240651p.I359Lc.1075A>CSubstitution - Missense
DNAJC22ENSG00000178401ENST00000395069p.K132Nc.396G>TSubstitution - Missense
DNAJC22ENSG00000178401ENST00000549441p.K132Nc.396G>TSubstitution - Missense
ENST00000510439_v68p.K158Nc.474G>TSubstitution - Missense
GOLGA6L4ENSG00000184206ENST00000510439p.K158Nc.474G>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.L1315Vc.3943C>GSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.F766Yc.2297T>ASubstitution - Missense
NBPF3ENSG00000142794ENST00000318249p.E395Dc.1185G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.K344Tc.1031A>CSubstitution - Missense
IFIT5ENSG00000152778ENST00000371795p.L223Lc.669G>ASubstitution - coding silent
UBASH3BENSG00000154127ENST00000284273p.Q427Pc.1280A>CSubstitution - Missense
NM_032900.2p.?c.450+7A>CUnknown
MUC5BENSG00000117983ENST00000529681p.A1237Vc.3710C>TSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.L83Lc.249G>TSubstitution - coding silent
ATF7ENSG00000170653ENST00000328463p.N394Sc.1181A>GSubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.T63Ac.187A>GSubstitution - Missense
BAZ2AENSG00000076108ENST00000379441p.I162Vc.484A>GSubstitution - Missense
PCDH8ENSG00000136099ENST00000377942p.?c.2632-7G>AUnknown
CAPN8ENSG00000203697ENST00000366872p.R389Lc.1166G>TSubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.R111Hc.332G>ASubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.R676Cc.2026C>TSubstitution - Missense
RARBENSG00000077092ENST00000330688p.V233Mc.697G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.T6475Mc.19424C>TSubstitution - Missense
CR1ENSG00000203710ENST00000367049p.A1961fs*34c.5882delCDeletion - Frameshift
CR1ENSG00000203710ENST00000400960p.A1511fs*34c.4532delCDeletion - Frameshift
CD34ENSG00000174059ENST00000310833p.?c.807+3A>TUnknown
USH2AENSG00000042781ENST00000307340p.S1375Sc.4125G>ASubstitution - coding silent
KCNK2ENSG00000082482ENST00000444842p.R357Wc.1069C>TSubstitution - Missense
KCNK2ENSG00000082482ENST00000391894p.R342Wc.1024C>TSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.T384Mc.1151C>TSubstitution - Missense
MAKENSG00000111837ENST00000313243p.G27Rc.79G>ASubstitution - Missense
ZNF488ENSG00000165388ENST00000395702p.A65Ac.195G>ASubstitution - coding silent
CYP4F11ENSG00000171903ENST00000248041p.R108Wc.322C>TSubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.E109delEc.325_327delGAADeletion - In frame
KCNC2ENSG00000166006ENST00000549446p.R599Qc.1796G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.G32Sc.94G>ASubstitution - Missense
NAA15ENSG00000164134ENST00000296543p.R144*c.430C>TSubstitution - Nonsense
PLA2G4EENSG00000188089ENST00000413860p.R394Cc.1180C>TSubstitution - Missense
NM_014903.3p.D2344Nc.7030G>ASubstitution - Missense
CD209ENSG00000090659ENST00000315599p.A404Ac.1212G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.P3244Lc.9731C>TSubstitution - Missense
GABRB3ENSG00000166206ENST00000541819p.T96Tc.288G>ASubstitution - coding silent
SIRT5ENSG00000124523ENST00000379250p.R44*c.130C>TSubstitution - Nonsense
IGF2RENSG00000197081ENST00000356956p.R1949Qc.5846G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
NM_006218.1p.E109delc.325_327delGAADeletion - In frame
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.R857*c.2569C>TSubstitution - Nonsense
SYNE2ENSG00000054654ENST00000358025p.?c.20383-9G>AUnknown
SYNE2ENSG00000054654ENST00000458046p.?c.1327-9G>AUnknown
RTN1ENSG00000139970ENST00000267484p.D524Nc.1570G>ASubstitution - Missense
SLC24A4ENSG00000140090ENST00000532405p.L133Ic.397C>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.?c.1666-4G>AUnknown
TC2NENSG00000165929ENST00000340892p.Y338Cc.1013A>GSubstitution - Missense
TMEM201ENSG00000188807ENST00000340381p.L503Lc.1509C>ASubstitution - coding silent
PIK3R3ENSG00000117461ENST00000372006p.A379Tc.1135G>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000399232p.G75Sc.223G>ASubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.A199Tc.595G>ASubstitution - Missense
TMEM183AENSG00000163444ENST00000367242p.?c.527+3_527+15delgcgaccacagagaUnknown
FAM72AENSG00000196550ENST00000367129p.P37fs*5c.108delCDeletion - Frameshift
DSTYKENSG00000133059ENST00000367162p.R162Wc.484C>TSubstitution - Missense
FAM181BENSG00000182103ENST00000329203p.R64Lc.191G>TSubstitution - Missense
CD151ENSG00000177697ENST00000397420p.A175Ac.525C>TSubstitution - coding silent
RTN3ENSG00000133318ENST00000341307p.S12Sc.36C>TSubstitution - coding silent
ENST00000438990p.G148Rc.442G>ASubstitution - Missense
OXCT2ENSG00000198754ENST00000327582p.R217Qc.650G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.Q679*c.2035C>TSubstitution - Nonsense
TTF2ENSG00000116830ENST00000369466p.Q576Qc.1728G>ASubstitution - coding silent
ENSG00000005189ENST00000261377p.P203Pc.609A>GSubstitution - coding silent
GPRC5BENSG00000167191ENST00000300571p.E119Kc.355G>ASubstitution - Missense
RAD51BENSG00000182185ENST00000487270p.A268_L273delASQADLc.798_815del18Deletion - In frame
YLPM1ENSG00000119596ENST00000238571p.E333Vc.998A>TSubstitution - Missense
PGBD3ENSG00000243251ENST00000374127p.V124Ic.370G>ASubstitution - Missense
PARNENSG00000140694ENST00000437198p.N265Sc.794A>GSubstitution - Missense
TXNDC11ENSG00000153066ENST00000356957p.P587Pc.1761A>GSubstitution - coding silent
CHATENSG00000070748ENST00000337653p.R566Cc.1696C>TSubstitution - Missense
CHATENSG00000070748ENST00000395562p.R484Cc.1450C>TSubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.R537Hc.1610G>ASubstitution - Missense
RTN3ENSG00000133318ENST00000339997p.S12Sc.36C>TSubstitution - coding silent
HK1ENSG00000156515ENST00000359426p.A830Ac.2490C>TSubstitution - coding silent
HK1ENSG00000156515ENST00000298649p.A829Ac.2487C>TSubstitution - coding silent
DYRK2ENSG00000127334ENST00000344096p.I267Vc.799A>GSubstitution - Missense
GRIP1ENSG00000155974ENST00000398016p.S721Sc.2163T>CSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.T2051Tc.6153G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.P1880Pc.5640G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.A1637Pc.4909G>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.A1637Pc.4909G>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.P1634Pc.4902T>ASubstitution - coding silent
HINFPENSG00000172273ENST00000350777p.D77Gc.230A>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.W1031*c.3093G>ASubstitution - Nonsense
MUC2ENSG00000198788ENST00000441003p.S2016Sc.6048C>TSubstitution - coding silent
ENST00000556104p.A62Sc.184G>TSubstitution - Missense
APITD1ENSG00000175279ENST00000309048p.A62Sc.184G>TSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.?c.802+7C>AUnknown
CSMD2ENSG00000121904ENST00000241312p.S1736Ic.5207G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.S1776Ic.5327G>TSubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.H1040Nc.3118C>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.H357Rc.1070A>GSubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.H298Rc.893A>GSubstitution - Missense
ENST00000567107_v68p.R331Qc.992G>ASubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000567107p.R331Qc.992G>ASubstitution - Missense
CD244ENSG00000122223ENST00000368033p.G346*c.1036G>TSubstitution - Nonsense
CD244ENSG00000122223ENST00000368034p.G341*c.1021G>TSubstitution - Nonsense
NM_004667.3p.R2554Qc.7661G>ASubstitution - Missense
INSCENSG00000188487ENST00000379554p.I131Vc.391A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.L1559Rc.4676T>GSubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.S159Nc.476G>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.S915Sc.2745C>TSubstitution - coding silent
EEA1ENSG00000102189ENST00000322349p.M1229Ic.3687G>TSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.R643*c.1927C>TSubstitution - Nonsense
C10orf2ENSG00000107815ENST00000311916p.T97Sc.290C>GSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.H1486Yc.4456C>TSubstitution - Missense
SP3ENSG00000172845ENST00000310015p.R723*c.2167C>TSubstitution - Nonsense
SMC6ENSG00000163029ENST00000448223p.D33Dc.99C>TSubstitution - coding silent
ENST00000356127p.P26112Qc.78335C>ASubstitution - Missense
NM_003319p.P19617Qc.58850C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R19147Wc.57439C>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.Y117Yc.351C>TSubstitution - coding silent
ZAP70ENSG00000115085ENST00000264972p.E567Kc.1699G>ASubstitution - Missense
FUSENSG00000089280ENST00000254108p.R386*c.1156C>TSubstitution - Nonsense
BTN3A3ENSG00000111801ENST00000244519p.L125Lc.375G>ASubstitution - coding silent
PON3ENSG00000105852ENST00000265627p.N308Dc.922A>GSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.I1210Mc.3630C>GSubstitution - Missense
IMPA1ENSG00000133731ENST00000256108p.R248Qc.743G>ASubstitution - Missense
CABS1ENSG00000145309ENST00000273936p.T380Mc.1139C>TSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.G534Dc.1601G>ASubstitution - Missense
ENST00000312412_v68p.W380Rc.1138T>CSubstitution - Missense
ENSG00000174093ENST00000312412p.W380Rc.1138T>CSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.T120Mc.359C>TSubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.A218Ac.654C>TSubstitution - coding silent
TBC1D1ENSG00000065882ENST00000261439p.R289Qc.866G>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.K237Nc.711G>TSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.A537Ac.1611C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.N400Sc.1199A>GSubstitution - Missense
ENST00000411702p.N2376Sc.7127A>GSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.R800Hc.2399G>ASubstitution - Missense
ENST00000357018p.?c.631+4C>TUnknown
ENST00000360228_v70p.?c.6190-9G>TUnknown
CACNA1AENSG00000141837ENST00000360228p.?c.6190-9G>TUnknown
FTCDENSG00000160282ENST00000397748p.A22Vc.65C>TSubstitution - Missense
FTCDENSG00000160282ENST00000397746p.A22Vc.65C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.Q34Ec.100C>GSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.L518Fc.1554A>TSubstitution - Missense
TMPRSS11FENSG00000198092ENST00000356291p.R100Qc.299G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.A1317Ec.3950C>ASubstitution - Missense
PPEF2ENSG00000156194ENST00000286719p.R654Qc.1961G>ASubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.P613Pc.1839A>GSubstitution - coding silent
DDX58ENSG00000107201ENST00000379883p.H381Hc.1143C>TSubstitution - coding silent
TMEM2ENSG00000135048ENST00000377044p.I476Tc.1427T>CSubstitution - Missense
RPH3ALENSG00000181031ENST00000331302p.D304Nc.910G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.T1609Ic.4826C>TSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.A60Vc.179C>TSubstitution - Missense
BPIFB3ENSG00000186190ENST00000375494p.V123Vc.369G>TSubstitution - coding silent
ADAM33ENSG00000149451ENST00000356518p.W530Cc.1590G>CSubstitution - Missense
WNT16ENSG00000002745ENST00000222462p.H336Lc.1007A>TSubstitution - Missense
LRGUKENSG00000155530ENST00000285928p.R528Cc.1582C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.?c.4354-7C>TUnknown
COL3A1ENSG00000168542ENST00000304636p.?c.528+5G>AUnknown
CRYGBENSG00000182187ENST00000260988p.R116Cc.346C>TSubstitution - Missense
KIAA1210ENSG00000250423ENST00000402510p.R538Kc.1613G>ASubstitution - Missense
XM_172801.3p.R362Kc.1085G>ASubstitution - Missense
NKRFENSG00000186416ENST00000542113p.L310Vc.928C>GSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.E694Kc.2080G>ASubstitution - Missense
TRIP10ENSG00000125733ENST00000313285p.N397Dc.1189A>GSubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.K521Kc.1563G>ASubstitution - coding silent
CLEC4MENSG00000104938ENST00000327325p.W387Rc.1159T>CSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.T427Mc.1280C>TSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.D59Nc.175G>ASubstitution - Missense
TBC1D26ENSG00000214946ENST00000469477p.A209Vc.626C>TSubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.E384*c.1150G>TSubstitution - Nonsense
C15orf41ENSG00000186073ENST00000437989p.R126Wc.376C>TSubstitution - Missense
ARHGAP27ENSG00000159314ENST00000376922p.?c.226-5C>TUnknown
OR7G1ENSG00000161807ENST00000293614p.?c.917-5C>GUnknown
EPN3ENSG00000049283ENST00000268933p.T421Ic.1262C>TSubstitution - Missense
OR2M4ENSG00000171180ENST00000306687p.S275Lc.824C>TSubstitution - Missense
EFCAB7ENSG00000203965ENST00000371088p.P502Pc.1506A>GSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.V495Ac.1484T>CSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.L827Pc.2480T>CSubstitution - Missense
GDF15ENSG00000130513ENST00000252809p.L64Pc.191T>CSubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.D88Ec.264T>ASubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.D88Ec.264T>ASubstitution - Missense
MPV17L2ENSG00000254858ENST00000599612p.L182Lc.546G>ASubstitution - coding silent
ZNF90ENSG00000213988ENST00000418063p.V144Vc.432A>CSubstitution - coding silent
ENST00000300996p.V144Vc.432A>CSubstitution - coding silent
MKNK2ENSG00000099875ENST00000309340p.?c.241+10G>TUnknown
PPP1R13LENSG00000104881ENST00000360957p.K262Qc.784A>CSubstitution - Missense
LMF2ENSG00000100258ENST00000216080p.P270Pc.810T>CSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.D1853Dc.5559C>TSubstitution - coding silent
NELFBENSG00000188986ENST00000343053p.A526Ac.1578C>TSubstitution - coding silent
ABCA2ENSG00000107331ENST00000341511p.L657Lc.1971C>GSubstitution - coding silent
FOCADENSG00000188352ENST00000380249p.?c.907-7C>TUnknown
NIFKENSG00000155438ENST00000285814p.R81Rc.241A>CSubstitution - coding silent
SU_SPEGp.C1790Sc.5369G>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.R352Qc.1055G>ASubstitution - Missense
DGKDENSG00000077044ENST00000264057p.P597Pc.1791G>ASubstitution - coding silent
SP140ENSG00000079263ENST00000392045p.D256Nc.766G>ASubstitution - Missense
TRPM8ENSG00000144481ENST00000324695p.I169Ic.507C>TSubstitution - coding silent
TMEM40ENSG00000088726ENST00000314124p.G101Sc.301G>ASubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.A2211Ac.6633C>TSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.T2496Tc.7488A>GSubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.D427Dc.1281C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.L2500Lc.7500G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.L2500Lc.7500G>TSubstitution - coding silent
PARK2ENSG00000185345ENST00000366892p.E195Ec.585A>GSubstitution - coding silent
SEMA3CENSG00000075223ENST00000265361p.?c.104-8T>GUnknown
SEMA3CENSG00000075223ENST00000544525p.?c.158-8T>GUnknown
IKBKGENSG00000073009ENST00000369609p.S28*c.83C>GSubstitution - Nonsense
SEMA3DENSG00000153993ENST00000284136p.A129Ec.386C>ASubstitution - Missense
MAGEB4ENSG00000120289ENST00000378982p.G273Sc.817G>ASubstitution - Missense
SOX9ENSG00000125398ENST00000245479p.P267fs*12c.796delCDeletion - Frameshift
TRANK1ENSG00000168016ENST00000429976p.L2129Fc.6387G>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.L1579Fc.4737G>TSubstitution - Missense
APCENSG00000134982ENST00000457016p.S1465fs*8c.4395delTDeletion - Frameshift
CDH5ENSG00000179776ENST00000341529p.E198Kc.592G>ASubstitution - Missense
OR5H1ENSG00000231192ENST00000354565p.I146Mc.438C>GSubstitution - Missense
PKD2ENSG00000118762ENST00000237596p.A365Vc.1094C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.P1220Pc.3660G>ASubstitution - coding silent
ENST00000318252p.P949Pc.2847G>ASubstitution - coding silent
OTTHUMT00000056248.1p.K266Kc.798G>ASubstitution - coding silent
NLRP8ENSG00000179709ENST00000291971p.S102Lc.305C>TSubstitution - Missense
CATSPERDENSG00000174898ENST00000381624p.G234Rc.700G>ASubstitution - Missense
ZSCAN22ENSG00000182318ENST00000329665p.A140Ac.420C>TSubstitution - coding silent
ZNF837ENSG00000152475ENST00000427624p.K426Kc.1278G>ASubstitution - coding silent
PMM2ENSG00000140650ENST00000268261p.V231Mc.691G>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.C791Cc.2373C>TSubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.C792Cc.2376C>TSubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.?c.956+6G>AUnknown
ADRBK2ENSG00000100077ENST00000324198p.K644Nc.1932G>TSubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.R674Qc.2021G>ASubstitution - Missense
NM_014422.1p.R307Qc.920G>ASubstitution - Missense
TRAPPC12ENSG00000171853ENST00000382110p.G211Gc.633A>GSubstitution - coding silent
TRAPPC12ENSG00000171853ENST00000382110p.D212Ec.636C>GSubstitution - Missense
TRAPPC12ENSG00000171853ENST00000382110p.Y701Yc.2103C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S3511Fc.10532C>TSubstitution - Missense
ENST00000405167p.S3511Fc.10532C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2683Sc.8047A>TSubstitution - Missense
ENST00000405167p.T2683Sc.8047A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1854Ac.5560A>GSubstitution - Missense
ENST00000405167p.L2226Hc.6677T>ASubstitution - Missense
IL17RAENSG00000177663ENST00000319363p.P238Pc.714G>ASubstitution - coding silent
CTNND1ENSG00000198561ENST00000361391p.R852Qc.2555G>ASubstitution - Missense
TMEM71ENSG00000165071ENST00000356838p.E101Ec.303G>ASubstitution - coding silent
TMEM71ENSG00000165071ENST00000377901p.E101Ec.303G>ASubstitution - coding silent
NR5A1ENSG00000136931ENST00000373588p.L442Lc.1324C>TSubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.L16*c.47T>ASubstitution - Nonsense
C5orf34ENSG00000172244ENST00000306862p.I447Vc.1339A>GSubstitution - Missense
PPWD1ENSG00000113593ENST00000261308p.T599Tc.1797G>ASubstitution - coding silent
SGTBENSG00000197860ENST00000381007p.H134fs*6c.401delADeletion - Frameshift
DEPDC1BENSG00000035499ENST00000265036p.Q519Qc.1557A>GSubstitution - coding silent
RIF1ENSG00000080345ENST00000444746p.N2312Nc.6936C>TSubstitution - coding silent
ACVR2AENSG00000121989ENST00000241416p.K437fs*19c.1303_1304delAADeletion - Frameshift
PRPF40AENSG00000196504ENST00000354363p.?c.16+4C>TUnknown
LPHN3ENSG00000150471ENST00000514591p.L875Lc.2625C>GSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.L875Lc.2625C>GSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.L875Lc.2625C>GSubstitution - coding silent
ENST00000400460p.T105Tc.315C>GSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.E408Ec.1224G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.L32Pc.95T>CSubstitution - Missense
ENST00000402998p.L32Pc.95T>CSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
LUC7LENSG00000007392ENST00000293872p.G369Sc.1105G>ASubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.E464fs*37c.1388_1454del67Deletion - Frameshift
ZNF229ENSG00000167383ENST00000291187p.P149Lc.446C>TSubstitution - Missense
KIF20AENSG00000112984ENST00000394894p.I728Tc.2183T>CSubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.P689Pc.2067C>TSubstitution - coding silent
ITKENSG00000113263ENST00000422843p.S243Sc.729T>CSubstitution - coding silent
LSM11ENSG00000155858ENST00000286307p.R174Cc.520C>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.H137Hc.411T>CSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.A26Sc.76G>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.Q322Rc.965A>GSubstitution - Missense
RALGDSENSG00000160271ENST00000372050p.T454Tc.1362G>ASubstitution - coding silent
RALGDSENSG00000160271ENST00000542690p.T525Tc.1575G>ASubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.V24Lc.70G>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.P3038Lc.9113C>TSubstitution - Missense
SYKENSG00000165025ENST00000375754p.T73Pc.217A>CSubstitution - Missense
SYKENSG00000165025ENST00000375751p.T73Pc.217A>CSubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.S903Sc.2709G>ASubstitution - coding silent
TOB1ENSG00000141232ENST00000499247p.L229fs*7c.685_686delCTDeletion - Frameshift
APLP1ENSG00000105290ENST00000221891p.?c.1444+1G>AUnknown
WDR87ENSG00000171804ENST00000303868p.?c.129+1G>CUnknown
WDR87ENSG00000171804ENST00000447313p.V44Lc.130G>CSubstitution - Missense
ZNF781ENSG00000196381ENST00000358582p.S322*c.965C>ASubstitution - Nonsense
MRPL47ENSG00000136522ENST00000476781p.L9Fc.25C>TSubstitution - Missense
APOBEC3FENSG00000128394ENST00000308521p.D149Yc.445G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.V3541Lc.10621G>CSubstitution - Missense
OR13C4ENSG00000148136ENST00000277216p.P210Pc.630T>ASubstitution - coding silent
SOGA3ENSG00000214338ENST00000368268p.K545Nc.1635G>CSubstitution - Missense
BOCENSG00000144857ENST00000355385p.A723Ac.2169G>ASubstitution - coding silent
VGLL4ENSG00000144560ENST00000430365p.?c.83-4G>AUnknown
LRBAENSG00000198589ENST00000357115p.V1351Ac.4052T>CSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.M268Tc.803T>CSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.?c.360+9A>TUnknown
HAUS3ENSG00000214367ENST00000243706p.T513fs*16c.1538delCDeletion - Frameshift
DMXL1ENSG00000172869ENST00000311085p.S1421Ac.4261T>GSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.R57Cc.169C>TSubstitution - Missense
TBC1D19ENSG00000109680ENST00000264866p.A81Sc.241G>TSubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.T364Ac.1090A>GSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.V495Ac.1484T>CSubstitution - Missense
PHKA1ENSG00000067177ENST00000373542p.G1084Rc.3250G>ASubstitution - Missense
ZDHHC15ENSG00000102383ENST00000373367p.M7Ic.21G>ASubstitution - Missense
VCX2ENSG00000177504ENST00000317103p.A64Tc.190G>ASubstitution - Missense
DZIP1LENSG00000158163ENST00000327532p.G161Vc.482G>TSubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.C620Cc.1860C>TSubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.D556Ec.1668C>ASubstitution - Missense
PCDHA13ENSG00000239389ENST00000289272p.R62Cc.184C>TSubstitution - Missense
GABRB3ENSG00000166206ENST00000299267p.T40Tc.120G>ASubstitution - coding silent
KCNA5ENSG00000130037ENST00000252321p.I515Ic.1545C>TSubstitution - coding silent
NTMENSG00000182667ENST00000427481p.G3Rc.7G>ASubstitution - Missense
CRNNENSG00000143536ENST00000271835p.G469Cc.1405G>TSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.S364Cc.1090A>TSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.P588Lc.1763C>TSubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.C116Yc.347G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.D12924Hc.38770G>CSubstitution - Missense
ENST00000356127p.D19294Hc.57880G>CSubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.P424Lc.1271C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.T453Tc.1359G>ASubstitution - coding silent
WDR34ENSG00000119333ENST00000451652p.?c.160-10C>TUnknown
PRUNE2ENSG00000106772ENST00000376717p.P303Lc.908C>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000424866p.P211Lc.632C>TSubstitution - Missense
AQP7ENSG00000165269ENST00000379507p.R233Hc.698G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000539936p.R234Hc.701G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000379503p.R170Hc.509G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000541274p.P102Pc.306G>ASubstitution - coding silent
NFATC4ENSG00000100968ENST00000556279p.G139_G140insAGGc.418_419insCTGGGGGTGInsertion - In frame
NFATC4ENSG00000100968ENST00000555453p.G95_G96insAGGc.286_287insCTGGGGGTGInsertion - In frame
RAD51BENSG00000182185ENST00000471583p.A268_L273delASQADLc.798_815del18Deletion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQQQQc.862_863ins27Insertion - In frame
MAP2K7ENSG00000076984ENST00000545011p.N414delNc.1238_1240delATADeletion - In frame
LPHN3ENSG00000150471ENST00000507625p.L943Lc.2829C>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.L1510Rc.4529T>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.K1238Rc.3713A>GSubstitution - Missense
ENST00000378024_v70p.Q4518Kc.13552C>ASubstitution - Missense
PDE10AENSG00000112541ENST00000539869p.R296Hc.887G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.T4550Mc.13649C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.L2507Lc.7521G>TSubstitution - coding silent
EPN3ENSG00000049283ENST00000537145p.T449Ic.1346C>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.T51Mc.152C>TSubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.S1591Nc.4772G>ASubstitution - Missense
ENST00000358661p.C74Cc.222C>TSubstitution - coding silent
LAMA5ENSG00000130702ENST00000370692p.?c.956+6G>AUnknown
DOCK10ENSG00000135905ENST00000409592p.R346Qc.1037G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.D33Dc.99C>TSubstitution - coding silent
DIS3L2ENSG00000144535ENST00000360410p.Q266Rc.797A>GSubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.P660Rc.1979C>GSubstitution - Missense
FAM101AENSG00000178882ENST00000389727p.P159Pc.477G>ASubstitution - coding silent
GLIPR1L1ENSG00000173401ENST00000378695p.G160Gc.480G>ASubstitution - coding silent
LRIG3ENSG00000139263ENST00000379141p.T546Ic.1637C>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000332712p.R25Cc.73C>TSubstitution - Missense
FCRL5ENSG00000143297ENST00000356953p.R977Gc.2929A>GSubstitution - Missense
ABL2ENSG00000143322ENST00000392043p.S138Nc.413G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.L1166Rc.3497T>GSubstitution - Missense
NBPF3ENSG00000142794ENST00000342104p.E383Dc.1149G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.?c.9469-9G>AUnknown
GOLGA6L4ENSG00000184206ENST00000424966p.R3Mc.8G>TSubstitution - Missense
ZSCAN2ENSG00000176371ENST00000334141p.S59Nc.176G>ASubstitution - Missense
ENST00000254108_v70p.R386*c.1156C>TSubstitution - Nonsense
NM_139056.1p.S812Lc.2435C>TSubstitution - Missense
YIPF3ENSG00000137207ENST00000372422p.A2Sc.4G>TSubstitution - Missense
PHKA1ENSG00000067177ENST00000373539p.G1101Rc.3301G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
MAP2K7ENSG00000076984ENST00000545011p.T317Mc.950C>TSubstitution - Missense
OR4C13ENSG00000258817ENST00000555099p.C125*c.375C>ASubstitution - Nonsense
P2RX3ENSG00000109991ENST00000263314p.R180Hc.539G>ASubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.R858Qc.2573G>ASubstitution - Missense
NT5DC3ENSG00000111696ENST00000392876p.R131Wc.391C>TSubstitution - Missense
ZIC2ENSG00000043355ENST00000376335p.H237_H239delHHHc.690_698delCCACCACCADeletion - In frame
ENST00000341155p.?c.2376-3C>AUnknown
ST8SIA2ENSG00000140557ENST00000268164p.V264Ic.790G>ASubstitution - Missense
KCNQ4ENSG00000117013ENST00000347132p.D667Nc.1999G>ASubstitution - Missense
ENST00000359762p.G148Rc.442G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.P1634Pc.4902T>ASubstitution - coding silent
MMP20ENSG00000137674ENST00000260228p.T215Mc.644C>TSubstitution - Missense
TSPAN4ENSG00000214063ENST00000397397p.P166Pc.498T>CSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.?c.1666-4G>AUnknown
SPTBENSG00000070182ENST00000389722p.R405Qc.1214G>ASubstitution - Missense
TRIM64BENSG00000189253ENST00000329862p.T153Rc.458C>GSubstitution - Missense
TUBBENSG00000196230ENST00000327892p.?c.58-9C>TUnknown
DUSP22ENSG00000112679ENST00000419235p.R124Qc.369G>ASubstitution - Missense
ADD1ENSG00000087274ENST00000398125p.T364Ac.1090A>GSubstitution - Missense
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQQQQc.883_884ins27Insertion - In frame
ZSCAN2ENSG00000176371ENST00000379358p.S59Nc.176G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000264205p.T60Ac.178A>GSubstitution - Missense
ENST00000316893p.V737Mc.2209G>ASubstitution - Missense
PCDHGA9ENSG00000261934ENST00000573521p.Y117Yc.351C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.P3284Lc.9851C>TSubstitution - Missense
PHACTR4ENSG00000204138ENST00000373836p.E696Kc.2086G>ASubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.R162*c.484C>TSubstitution - Nonsense
MAP2K7ENSG00000076984ENST00000397979p.N372delNc.1112_1114delATADeletion - In frame
CCDC180ENSG00000197816ENST00000375202p.A1392Pc.4174G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2226Hc.6677T>ASubstitution - Missense
USTENSG00000111962ENST00000367463p.P372Pc.1116C>GSubstitution - coding silent
DZIP1LENSG00000158163ENST00000469243p.G161Vc.482G>TSubstitution - Missense
CLEC4MENSG00000104938ENST00000394122p.W375Rc.1123T>CSubstitution - Missense
ITGA6ENSG00000091409ENST00000264106p.Y693Yc.2079T>CSubstitution - coding silent
IL2RGENSG00000147168ENST00000374202p.K120fs*27c.359delADeletion - Frameshift
OR12D2ENSG00000168787ENST00000383555p.F26Fc.78C>TSubstitution - coding silent
SIRT5ENSG00000124523ENST00000379262p.R44*c.130C>TSubstitution - Nonsense
SORBS1ENSG00000095637ENST00000371247p.R760Hc.2279G>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000338631p.P149Pc.447C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.K1287Rc.3860A>GSubstitution - Missense
INHAENSG00000123999ENST00000243786p.L7Lc.21C>ASubstitution - coding silent
C6orf118ENSG00000112539ENST00000543069p.Q299Hc.897A>CSubstitution - Missense
VCXENSG00000182583ENST00000381059p.A64Tc.190G>ASubstitution - Missense
VPS53ENSG00000141252ENST00000437048p.S804Sc.2412C>TSubstitution - coding silent
KCNH2ENSG00000055118ENST00000262186p.P764Lc.2291C>TSubstitution - Missense
SPAG1ENSG00000104450ENST00000388798p.Y807Cc.2420A>GSubstitution - Missense
PCSK4ENSG00000115257ENST00000300954p.G288Gc.864C>TSubstitution - coding silent
LAMB4ENSG00000091128ENST00000388780p.G1390Gc.4170C>TSubstitution - coding silent
ABL2ENSG00000143322ENST00000512653p.S144Nc.431G>ASubstitution - Missense
ZFYVE9ENSG00000157077ENST00000287727p.P1398Lc.4193C>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.Q2571Hc.7713G>TSubstitution - Missense
CNTFRENSG00000122756ENST00000351266p.P132Lc.395C>TSubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.A17Ac.51C>TSubstitution - coding silent
ZNF721ENSG00000182903ENST00000338977p.A307Ac.921C>TSubstitution - coding silent
IMPA1ENSG00000133731ENST00000449740p.R307Qc.920G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P26114Qc.78341C>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000409080p.Y654Yc.1962T>CSubstitution - coding silent
GPR107ENSG00000148358ENST00000372406p.A518Tc.1552G>ASubstitution - Missense
ABLIM3ENSG00000173210ENST00000504238p.R15Wc.43C>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000541256p.P443Pc.1329G>ASubstitution - coding silent
KRASENSG00000133703ENST00000256078p.G12Dc.35G>ASubstitution - Missense
POLR3GLENSG00000121851ENST00000369314p.R10Hc.29G>ASubstitution - Missense
DTX3ENSG00000178498ENST00000548804p.G247Ac.740G>CSubstitution - Missense
EDRF1ENSG00000107938ENST00000368813p.A215Sc.643G>TSubstitution - Missense
KIAA0247ENSG00000100647ENST00000342745p.Q156Qc.468G>ASubstitution - coding silent
TSPAN32ENSG00000064201ENST00000182290p.V197Vc.591C>TSubstitution - coding silent
RAD51BENSG00000182185ENST00000487270p.A268_L273delASQADLc.798_815del18Deletion - In frame
CDH18ENSG00000145526ENST00000507958p.D427Dc.1281C>TSubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000378105p.T569Kc.1706C>ASubstitution - Missense
ZNF746ENSG00000181220ENST00000340622p.T13Mc.38C>TSubstitution - Missense
NR5A1ENSG00000136931ENST00000373587p.L226Lc.676C>TSubstitution - coding silent
PDCD11ENSG00000148843ENST00000369797p.Q627Rc.1880A>GSubstitution - Missense
IPO13ENSG00000117408ENST00000372343p.V196Mc.586G>ASubstitution - Missense
PARNENSG00000140694ENST00000437198p.N265Sc.794A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.L1559Rc.4676T>GSubstitution - Missense
GLIPR1L1ENSG00000173401ENST00000312442p.G160Gc.480G>ASubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.?c.2797-2A>GUnknown
SPTBENSG00000070182ENST00000542895p.R405Qc.1214G>ASubstitution - Missense
ENST00000340286p.D8Gc.23A>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.A1301Ec.3902C>ASubstitution - Missense
ZNF500ENSG00000103199ENST00000219478p.E47Ac.140A>CSubstitution - Missense
OSBPL2ENSG00000130703ENST00000313733p.T400Tc.1200G>ASubstitution - coding silent
ITGA6ENSG00000091409ENST00000264107p.Y654Yc.1962T>CSubstitution - coding silent
ENST00000405167p.T1854Ac.5560A>GSubstitution - Missense
FGF12ENSG00000114279ENST00000454309p.?c.415-10T>CUnknown
KRASENSG00000133703ENST00000311936p.G12Dc.35G>ASubstitution - Missense
GRIN3BENSG00000116032ENST00000234389p.F493Fc.1479C>TSubstitution - coding silent
KRTAP4-8ENSG00000204880ENST00000333822p.Q61Qc.183G>ASubstitution - coding silent
ATF7ENSG00000170653ENST00000548446p.N394Sc.1181A>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.G72Sc.214G>ASubstitution - Missense
LRIG3ENSG00000139263ENST00000320743p.T606Ic.1817C>TSubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.P485Qc.1454C>ASubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.L882Fc.2644C>TSubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.S1590Nc.4769G>ASubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.S477_G478insAc.1429_1430insCCGInsertion - In frame
XM_497119.1p.G1057Cc.3169G>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.S98Sc.294G>ASubstitution - coding silent
ABCA10ENSG00000154263ENST00000269081p.K237Rc.710A>GSubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.R82Cc.244C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.L2507Lc.7521G>TSubstitution - coding silent
PARK2ENSG00000185345ENST00000366898p.E195Ec.585A>GSubstitution - coding silent
MEIS3ENSG00000105419ENST00000561293p.P67Ac.199C>GSubstitution - Missense
TIMM21ENSG00000075336ENST00000169551p.D222fs*8c.663_667delTGATTDeletion - Frameshift
SLC5A11ENSG00000158865ENST00000347898p.Q207Kc.619C>ASubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000312015p.R331Qc.992G>ASubstitution - Missense
RRN3ENSG00000085721ENST00000198767p.W202Lc.605G>TSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.E333Dc.999A>TSubstitution - Missense
A1CFENSG00000148584ENST00000373995p.M16Ic.48G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.T134Ic.401C>TSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.E175Ec.525G>ASubstitution - coding silent
CACNA1AENSG00000141837ENST00000360228p.?c.631+4C>TUnknown
ENST00000325084p.?c.6193-9G>TUnknown
DNMT3BENSG00000088305ENST00000201963p.?c.468+7T>CUnknown
ABLIM3ENSG00000173210ENST00000309868p.R15Wc.43C>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.P764Lc.2291C>TSubstitution - Missense
HTR5AENSG00000157219ENST00000287907p.A348Tc.1042G>ASubstitution - Missense
ITGAVENSG00000138448ENST00000433736p.N442Sc.1325A>GSubstitution - Missense
UBQLNLENSG00000175518ENST00000380184p.M175Ic.525G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.L2539Lc.7617G>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
CD209ENSG00000090659ENST00000315599p.A404Ac.1212G>ASubstitution - coding silent
PTGS1ENSG00000095303ENST00000362012p.?c.1445-10C>TUnknown
GABRB3ENSG00000166206ENST00000311550p.T40Tc.120G>ASubstitution - coding silent
MED16ENSG00000175221ENST00000325464p.V18Ic.52G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.P19809Qc.59426C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2774Ac.8320A>GSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.A524Ac.1572C>TSubstitution - coding silent
ARPP21ENSG00000172995ENST00000187397p.P659Rc.1976C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.T4621Mc.13862C>TSubstitution - Missense
ENST00000330166p.G4156Wc.12466G>TSubstitution - Missense
VGLL4ENSG00000144560ENST00000273038p.?c.65-4G>AUnknown
TBC1D9ENSG00000109436ENST00000442267p.?c.360+9A>TUnknown
MKNK2ENSG00000099875ENST00000250896p.?c.241+10G>TUnknown
FGF12ENSG00000114279ENST00000264730p.?c.31-10T>CUnknown
OR4K15ENSG00000169488ENST00000305051p.D94fs*12c.282delCDeletion - Frameshift
SZT2ENSG00000198198ENST00000562955p.Q1521*c.4561C>TSubstitution - Nonsense
CACNA1EENSG00000198216ENST00000367570p.K1287Rc.3860A>GSubstitution - Missense
PGRMC1ENSG00000101856ENST00000217971p.G19Sc.55G>ASubstitution - Missense
ENST00000375206p.A1337Pc.4009G>CSubstitution - Missense
MAGEC2ENSG00000046774ENST00000247452p.G194Cc.580G>TSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.R720Qc.2159G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.K894Rc.2681A>GSubstitution - Missense
ENSG00000255622ENST00000539533p.E337Dc.1011G>CSubstitution - Missense
ALDOBENSG00000136872ENST00000374855p.V104Mc.310G>ASubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.R477Hc.1430G>ASubstitution - Missense
ENST00000356127p.R19145Wc.57433C>TSubstitution - Missense
CD34ENSG00000174059ENST00000367036p.?c.333+3A>TUnknown
STOX2ENSG00000173320ENST00000308497p.V823Ic.2467G>ASubstitution - Missense
ARHGAP19ENSG00000213390ENST00000358531p.?c.993+7A>CUnknown
PGRMC1ENSG00000101856ENST00000217971p.*196*c.588A>GSubstitution - coding silent
KLHL14ENSG00000197705ENST00000359358p.C541Cc.1623C>TSubstitution - coding silent
AQP7ENSG00000165269ENST00000297988p.R234Hc.701G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.?c.4354-7C>TUnknown
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
ARHGAP26ENSG00000145819ENST00000274498p.?c.1837+1G>AUnknown
RALGDSENSG00000160271ENST00000372062p.T425Tc.1275G>ASubstitution - coding silent
DMXL1ENSG00000172869ENST00000539542p.S1421Ac.4261T>GSubstitution - Missense
FAM101AENSG00000178882ENST00000324038p.P78Pc.234G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.K217Tc.650A>CSubstitution - Missense
THEMIS2ENSG00000130775ENST00000373921p.V572Ic.1714G>ASubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.A1483Tc.4447G>ASubstitution - Missense
SORBS1ENSG00000095637ENST00000371245p.R611Hc.1832G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000357071p.T51Ac.151A>GSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.I126Vc.376A>GSubstitution - Missense
C4BPBENSG00000123843ENST00000367076p.R117Wc.349C>TSubstitution - Missense
ADCY6ENSG00000174233ENST00000307885p.G36Sc.106G>ASubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.R738Qc.2213G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.R545Hc.1634G>ASubstitution - Missense
CCDC84ENSG00000186166ENST00000334418p.V233Ic.697G>ASubstitution - Missense
CPPED1ENSG00000103381ENST00000381774p.A6Sc.16G>TSubstitution - Missense
TYRENSG00000077498ENST00000263321p.S497Rc.1491C>ASubstitution - Missense
REV1ENSG00000135945ENST00000258428p.I433Mc.1299A>GSubstitution - Missense
TRPC3ENSG00000138741ENST00000264811p.R9Cc.25C>TSubstitution - Missense
ENST00000428290p.V91Vc.273A>CSubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000517417p.T569Kc.1706C>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P512Sc.1534C>TSubstitution - Missense
HK1ENSG00000156515ENST00000360289p.A818Ac.2454C>TSubstitution - coding silent
MAP3K13ENSG00000073803ENST00000424227p.L16*c.47T>ASubstitution - Nonsense
ITGAVENSG00000138448ENST00000261023p.N488Sc.1463A>GSubstitution - Missense
FLRT2ENSG00000185070ENST00000330753p.E157*c.469G>TSubstitution - Nonsense
FLCNENSG00000154803ENST00000389169p.A60Vc.179C>TSubstitution - Missense
ENST00000325084p.?c.631+4C>TUnknown
PER1ENSG00000179094ENST00000317276p.Y1124Yc.3372C>TSubstitution - coding silent
CYBBENSG00000165168ENST00000378588p.A233Tc.697G>ASubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.R744*c.2230C>TSubstitution - Nonsense
GPR101ENSG00000165370ENST00000298110p.V367Ic.1099G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.T5763Mc.17288C>TSubstitution - Missense
CLECL1ENSG00000184293ENST00000327839p.P95Lc.284C>TSubstitution - Missense
SELENBP1ENSG00000143416ENST00000368868p.D260Dc.780C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.T4550Mc.13649C>TSubstitution - Missense
LCTENSG00000115850ENST00000264162p.I489Mc.1467C>GSubstitution - Missense
GLRBENSG00000109738ENST00000264428p.S66Ic.197G>TSubstitution - Missense
PIGWENSG00000184886ENST00000328396p.A138Ac.414G>ASubstitution - coding silent
MSH2ENSG00000095002ENST00000233146p.R243Qc.728G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.G439Gc.1317C>TSubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.Q2588Hc.7764G>TSubstitution - Missense
ENST00000357018p.?c.6193-9G>TUnknown
WDR16ENSG00000166596ENST00000352665p.L408Rc.1223T>GSubstitution - Missense
GPR35ENSG00000178623ENST00000319838p.A63Vc.188C>TSubstitution - Missense
PLCL1ENSG00000115896ENST00000428675p.R176Kc.527G>ASubstitution - Missense
GABRPENSG00000094755ENST00000518525p.R138Gc.412A>GSubstitution - Missense
GPR107ENSG00000148358ENST00000347136p.A470Tc.1408G>ASubstitution - Missense
OR5J2ENSG00000174957ENST00000312298p.V30Ac.89T>CSubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.R168*c.502C>TSubstitution - Nonsense
FGF12ENSG00000114279ENST00000445105p.?c.229-10T>CUnknown
STOX2ENSG00000173320ENST00000308497p.V799Ic.2395G>ASubstitution - Missense
TEX101ENSG00000131126ENST00000253435p.S196Sc.588G>ASubstitution - coding silent
IL25ENSG00000166090ENST00000329715p.R142Wc.424C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
IL2RGENSG00000147168ENST00000374202p.K120fs*27c.359delADeletion - Frameshift
AP3M1ENSG00000185009ENST00000372745p.D217Hc.649G>CSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.R800Hc.2399G>ASubstitution - Missense
TCTEX1D2ENSG00000213123ENST00000325318p.N119Sc.356A>GSubstitution - Missense
STARD8ENSG00000130052ENST00000374599p.R558Qc.1673G>ASubstitution - Missense
ENST00000247712p.L182Lc.546G>ASubstitution - coding silent
RARBENSG00000077092ENST00000404969p.V240Mc.718G>ASubstitution - Missense
EFHBENSG00000163576ENST00000295824p.T384Mc.1151C>TSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.I209Ic.627C>TSubstitution - coding silent
LATS1ENSG00000131023ENST00000543571p.R744*c.2230C>TSubstitution - Nonsense
ENST00000573521_v68p.Y117Yc.351C>TSubstitution - coding silent
MTRF1ENSG00000120662ENST00000379477p.E134Kc.400G>ASubstitution - Missense
ENST00000450802_v68p.R337Wc.1009C>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.H1486Yc.4456C>TSubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.T206Nc.617C>ASubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.P469Pc.1407G>ASubstitution - coding silent
TRANK1ENSG00000168016ENST00000301807p.L1572Fc.4716G>TSubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.R170Qc.509G>ASubstitution - Missense
TCF20ENSG00000100207ENST00000359486p.G1347Ec.4040G>ASubstitution - Missense
FAAH2ENSG00000165591ENST00000374900p.P289Rc.866C>GSubstitution - Missense
NM_014866.1p.V24Lc.70G>TSubstitution - Missense
TMEM247ENSG00000187600ENST00000434431p.F198Fc.594C>TSubstitution - coding silent
GABRQENSG00000147402ENST00000370306p.L598Pc.1793T>CSubstitution - Missense
NM_021874.2p.E485fs*37c.1451_1517del67Deletion - Frameshift
LAMA5ENSG00000130702ENST00000370677p.?c.956+6G>AUnknown
CAMSAP2ENSG00000118200ENST00000236925p.S375Cc.1123A>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.L3582Lc.10746G>TSubstitution - coding silent
MRGPRX3ENSG00000179826ENST00000396275p.E303Kc.907G>ASubstitution - Missense
SPG20ENSG00000133104ENST00000355182p.A290Ac.870G>ASubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.T1948Mc.5843C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T2051Tc.6153G>ASubstitution - coding silent
HK1ENSG00000156515ENST00000404387p.A834Ac.2502C>TSubstitution - coding silent
SNX19ENSG00000120451ENST00000265909p.P445Pc.1335A>GSubstitution - coding silent
PER3ENSG00000049246ENST00000361923p.S666Lc.1997C>TSubstitution - Missense
PGRMC1ENSG00000101856ENST00000217971p.Y107Yc.321C>TSubstitution - coding silent
SORBS3ENSG00000120896ENST00000240123p.L8Fc.22C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.D12991Hc.38971G>CSubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.S812Lc.2435C>TSubstitution - Missense
KCNK2ENSG00000082482ENST00000391895p.R353Wc.1057C>TSubstitution - Missense
C4BPBENSG00000123843ENST00000451804p.R108Wc.322C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S1375Sc.4125G>ASubstitution - coding silent
ENST00000539533_v68p.E337Dc.1011G>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.V737Mc.2209G>ASubstitution - Missense
C8AENSG00000157131ENST00000361249p.S421Yc.1262C>ASubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.D187Nc.559G>ASubstitution - Missense
USP48ENSG00000090686ENST00000308271p.I75Ic.225C>TSubstitution - coding silent
MYH15ENSG00000144821ENST00000273353p.E1473Kc.4417G>ASubstitution - Missense
APCENSG00000134982ENST00000457016p.L1511Lc.4533C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T4621Mc.13862C>TSubstitution - Missense
HS6ST1ENSG00000136720ENST00000259241p.H63Dc.187C>GSubstitution - Missense
FCRL5ENSG00000143297ENST00000361835p.R977Gc.2929A>GSubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.R170Cc.508C>TSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.S1327Gc.3979A>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000325680p.E333Vc.998A>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQQQQc.883_884ins27Insertion - In frame
PCDHGA5ENSG00000253485ENST00000518069p.Q322Rc.965A>GSubstitution - Missense
GRIP1ENSG00000155974ENST00000359742p.S773Sc.2319T>CSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.W1031*c.3093G>ASubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.I1373Tc.4118T>CSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.G1765Ec.5294G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.G88Vc.263G>TSubstitution - Missense
VPS37AENSG00000155975ENST00000324849p.M357Tc.1070T>CSubstitution - Missense
HIST1H1TENSG00000187475ENST00000338379p.P117Pc.351T>CSubstitution - coding silent
CARD11ENSG00000198286ENST00000396946p.I1139Ic.3417C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.S1375Sc.4125G>ASubstitution - coding silent
ARHGAP27ENSG00000159314ENST00000428638p.?c.1249-5C>TUnknown
CRTAC1ENSG00000095713ENST00000370591p.L632Vc.1894C>GSubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.P876Pc.2628C>TSubstitution - coding silent
ZSCAN2ENSG00000176371ENST00000448803p.S59Nc.176G>ASubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.G1194Cc.3580G>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.S173Sc.519G>ASubstitution - coding silent
PDE10AENSG00000112541ENST00000366882p.R286Hc.857G>ASubstitution - Missense
SCML2ENSG00000102098ENST00000251900p.E41Dc.123G>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.E918*c.2752G>TSubstitution - Nonsense
CYTH2ENSG00000105443ENST00000452733p.T197Tc.591C>TSubstitution - coding silent
HHATLENSG00000010282ENST00000310417p.V305Ic.913G>ASubstitution - Missense
PCDHGA11ENSG00000253873ENST00000398587p.T422Tc.1266G>ASubstitution - coding silent
OR11A1ENSG00000204694ENST00000377149p.V51Vc.153G>TSubstitution - coding silent
LAMB4ENSG00000091128ENST00000205386p.G1390Gc.4170C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.R3Pc.8G>CSubstitution - Missense
CFHENSG00000000971ENST00000367429p.G155Vc.464G>TSubstitution - Missense
TEAD4ENSG00000197905ENST00000359864p.D259Dc.777C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S1770Nc.5309G>ASubstitution - Missense
SLX4IPENSG00000149346ENST00000334534p.V289Ac.866T>CSubstitution - Missense
LDLRENSG00000130164ENST00000558518p.G24Gc.72C>ASubstitution - coding silent
ZNF440ENSG00000171295ENST00000304060p.V11Vc.33G>ASubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000391728p.W363Lc.1088G>TSubstitution - Missense
MED16ENSG00000175221ENST00000312090p.V18Ic.52G>ASubstitution - Missense
TMEM40ENSG00000088726ENST00000431022p.G117Sc.349G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.E914*c.2740G>TSubstitution - Nonsense
COL3A1ENSG00000168542ENST00000317840p.?c.528+5G>AUnknown
ATP13A1ENSG00000105726ENST00000291503p.L709Pc.2126T>CSubstitution - Missense
APCENSG00000134982ENST00000457016p.R876*c.2626C>TSubstitution - Nonsense
CNTFRENSG00000122756ENST00000378980p.P132Lc.395C>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.R158*c.472C>TSubstitution - Nonsense
DNAH14ENSG00000185842ENST00000366848p.K217Tc.650A>CSubstitution - Missense
ITGB7ENSG00000139626ENST00000422257p.?c.1072-9A>CUnknown
TIMELESSENSG00000111602ENST00000553532p.V556Vc.1668G>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.L3852Lc.11556G>TSubstitution - coding silent
ANKS1BENSG00000185046ENST00000549493p.R25Cc.73C>TSubstitution - Missense
RTN3ENSG00000133318ENST00000356000p.S12Sc.36C>TSubstitution - coding silent
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.A2362Tc.7084G>ASubstitution - Missense
DIS3L2ENSG00000144535ENST00000325385p.A246Ac.738A>GSubstitution - coding silent
CYLC2ENSG00000155833ENST00000374798p.A175Vc.524C>TSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.L359Rc.1076T>GSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.S121Sc.363C>TSubstitution - coding silent
NM_005158p.S123Nc.368G>ASubstitution - Missense
RAD51BENSG00000182185ENST00000488612p.A268_L273delASQADLc.798_815del18Deletion - In frame
YLPM1ENSG00000119596ENST00000325680p.E333Dc.999A>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.P1880Pc.5640G>ASubstitution - coding silent
PTGER4ENSG00000171522ENST00000302472p.G34Cc.100G>TSubstitution - Missense
SLC24A4ENSG00000140090ENST00000298877p.L116Ic.346C>ASubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.P842Lc.2525C>TSubstitution - Missense
IL9ENSG00000145839ENST00000274520p.?c.183+4A>GUnknown
PCDHA13ENSG00000239389ENST00000289272p.F281Lc.841T>CSubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.L568Lc.1704G>CSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
C6orf106ENSG00000196821ENST00000374023p.G43_F46delGCAFc.127_138del12Deletion - In frame
PRPF40AENSG00000196504ENST00000410080p.?c.328+4C>TUnknown
ENST00000359961p.?c.409+4C>TUnknown
PKD1ENSG00000008710ENST00000262304p.R2888Hc.8663G>ASubstitution - Missense
NAF1ENSG00000145414ENST00000274054p.V428Vc.1284G>ASubstitution - coding silent
OSTNENSG00000188729ENST00000339051p.R5Ic.14G>TSubstitution - Missense
VGLL4ENSG00000144560ENST00000404339p.?c.80-4G>AUnknown
CSMD1ENSG00000183117ENST00000539096p.P1220Pc.3660G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.T4368Mc.13103C>TSubstitution - Missense
TRPM8ENSG00000144481ENST00000355722p.I119Ic.357C>TSubstitution - coding silent
WDR16ENSG00000166596ENST00000299764p.L418Rc.1253T>GSubstitution - Missense
WNT16ENSG00000002745ENST00000361301p.H326Lc.977A>TSubstitution - Missense
GPRASP1ENSG00000198932ENST00000415986p.A804Ec.2411C>ASubstitution - Missense
TRIP10ENSG00000125733ENST00000313244p.N453Dc.1357A>GSubstitution - Missense
BPIFB3ENSG00000186190ENST00000375494p.L331Lc.991C>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.P266Pc.798G>ASubstitution - coding silent
ENST00000360228_v70p.?c.631+4C>TUnknown
MTERFENSG00000127989ENST00000351870p.I332Vc.994A>GSubstitution - Missense
KIF25ENSG00000125337ENST00000354419p.D45Vc.134A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P19742Qc.59225C>ASubstitution - Missense
NM_003319p.D12799Hc.38395G>CSubstitution - Missense
XM_098980.6p.T426Mc.1277C>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.G4213Wc.12637G>TSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.R747Qc.2240G>ASubstitution - Missense
SPP2ENSG00000072080ENST00000373368p.?c.86-8G>AUnknown
TENSG00000164458ENST00000296946p.A96Ac.288G>ASubstitution - coding silent
STARD8ENSG00000130052ENST00000252336p.R478Qc.1433G>ASubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.R478Qc.1433G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.V3581Lc.10741G>CSubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
CALN1ENSG00000183166ENST00000395275p.R153Hc.458G>ASubstitution - Missense
SU_OBSCN.1p.T6345Mc.19034C>TSubstitution - Missense
ENST00000349637p.A1240Vc.3719C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.I126Vc.376A>GSubstitution - Missense
PRDX6ENSG00000117592ENST00000340385p.L113Lc.339G>ASubstitution - coding silent
GOLGA8IENSG00000153666ENST00000450802p.R337Wc.1009C>TSubstitution - Missense
TXNDC11ENSG00000153066ENST00000283033p.P560Pc.1680A>GSubstitution - coding silent
NPPAENSG00000175206ENST00000376480p.P66Lc.197C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.Q679*c.2035C>TSubstitution - Nonsense
PSMA3ENSG00000100567ENST00000216455p.E247Dc.741A>TSubstitution - Missense
NKRFENSG00000186416ENST00000371527p.L295Vc.883C>GSubstitution - Missense
LCTENSG00000115850ENST00000264162p.E513Ec.1539G>ASubstitution - coding silent
PCDHGA10ENSG00000253846ENST00000398610p.A26Sc.76G>TSubstitution - Missense
GALMENSG00000143891ENST00000272252p.V75Ac.224T>CSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
WDR34ENSG00000119333ENST00000372715p.?c.187-10C>TUnknown
NTMT1ENSG00000148335ENST00000372480p.N160Nc.480C>TSubstitution - coding silent
TRIP10ENSG00000125733ENST00000596758p.N397Dc.1189A>GSubstitution - Missense
ENST00000310397_v70p.Y117Yc.351C>TSubstitution - coding silent
NEFMENSG00000104722ENST00000221166p.A313Tc.937G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.?c.432+7T>CUnknown
TTNENSG00000155657ENST00000342992p.D19296Hc.57886G>CSubstitution - Missense
PDK4ENSG00000004799ENST00000005178p.A66Vc.197C>TSubstitution - Missense
ENST00000356559p.K60fs*18c.159_177del19Deletion - Frameshift
ENST00000333535_v68p.R225Wc.673C>TSubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.R225Wc.673C>TSubstitution - Missense
USP9XENSG00000124486ENST00000324545p.K273Kc.819G>ASubstitution - coding silent
CHRNA6ENSG00000147434ENST00000276410p.F176fs*14c.528delTDeletion - Frameshift
DIS3L2ENSG00000144535ENST00000273009p.A246Ac.738A>GSubstitution - 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