Q9H8H0 · NOL11_HUMAN

  • Protein
    Nucleolar protein 11
  • Gene
    NOL11
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

1719100200300400500600700
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV53522760
COSV53523060
COSV99474827
1M>?
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs20431870892A>TTOPMed
gnomAD
rs12844140542A>VTOPMed
gnomAD
rs11905678593A>GTOPMed
gnomAD
rs7763620263A>PExAC
TOPMed
gnomAD
rs7763620263A>SExAC
TOPMed
gnomAD
rs7763620263A>TExAC
TOPMed
gnomAD
rs11905678593A>VTOPMed
gnomAD
rs14239599034L>MTOPMed
rs7612310534L>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs5689838185E>DgnomAD
rs15990317745E>GEnsembl
rs11746977035E>KgnomAD
rs2015635176E>DVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs7498837876E>GExAC
TOPMed
gnomAD
rs7648645876E>KExAC
TOPMed
gnomAD
rs7519505127E>*Variant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs7552850617E>AExAC
gnomAD
rs7519505127E>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV53521680
COSV53522978
7E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs20431877518F>IEnsembl
rs7814000429T>MExAC
TOPMed
gnomAD
rs53940543910L>S1000Genomes
ExAC
TOPMed
gnomAD
rs11370751611S>F1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs74930110911S>TExAC
gnomAD
rs204318810612S>LgnomAD
rs78009317612S>PExAC
gnomAD
rs14146395413V>AESP
ExAC
TOPMed
gnomAD
rs74681640713V>IExAC
TOPMed
gnomAD
rs204318827914V>DTOPMed
rs37188360114V>FESP
ExAC
TOPMed
gnomAD
COSV9947528915L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76158018416S>GLikely benign (Ensembl)ExAC
TOPMed
gnomAD
TCGA novel
rs761580184
16S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)NCI-TCGA
ExAC
TOPMed
gnomAD
rs37658725718G>RESP
ExAC
TOPMed
gnomAD
COSV9947528719P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs204318863119P>RTOPMed
rs136492644219P>SgnomAD
COSV99475285
rs1364926442
19P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs214306657122L>FEnsembl
rs76666734522L>PExAC
TOPMed
gnomAD
rs204318875323L>QTOPMed
rs214306670125V>AEnsembl
rs75199915225V>MExAC
gnomAD
rs76003437026E>AExAC
TOPMed
gnomAD
rs99598330726E>DTOPMed
gnomAD
rs76792818127Q>*ExAC
gnomAD
rs136521879928S>NgnomAD
rs136521879928S>TgnomAD
rs204318898229D>GEnsembl
rs75640230030K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs204318905531T>ATOPMed
gnomAD
rs131869267131T>RTOPMed
gnomAD
rs122597019732D>EgnomAD
COSV9947519035L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs214306690336V>MEnsembl
rs143431571238D>YgnomAD
rs126695494939S>NgnomAD
rs204318923240G>DEnsembl
TCGA novel42T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs214306695542T>SEnsembl
rs159903195343V>GEnsembl
rs76418753447K>NExAC
TOPMed
gnomAD
rs91163036847K>QTOPMed
gnomAD
COSV99475100
COSV99475111
rs2043202688
50D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
COSV9947534351Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77580572451Q>EExAC
gnomAD
rs147255022051Q>LgnomAD
rs76442921853P>RExAC
TOPMed
gnomAD
rs76110814753P>SExAC
gnomAD
rs204320287455G>RgnomAD
rs15084059656S>NESP
ExAC
TOPMed
gnomAD
rs76217166457W>RExAC
gnomAD
rs76552180859V>MExAC
gnomAD
rs204320304561Q>HgnomAD
rs92244123461Q>REnsembl
rs75056099562G>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs135806654662G>SgnomAD
TCGA novel63Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs20148485063Q>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
TCGA novel64I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs76750169265I>MExAC
TOPMed
gnomAD
rs136260987065I>VgnomAD
rs129734209966T>KgnomAD
rs130798842467C>RTOPMed
rs88815778568P>LTOPMed
gnomAD
rs137143949970V>MTOPMed
rs19961729871C>YTOPMed
gnomAD
rs75606655672N>SExAC
TOPMed
gnomAD
rs75606655672N>TExAC
TOPMed
gnomAD
rs136956296574Q>HgnomAD
rs75359949776G>EVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs121662043977E>ATOPMed
gnomAD
rs36926518078Y>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs204320377079V>IEnsembl
rs91402939280V>ATOPMed
rs78163793583D>GEnsembl
rs56375633383D>N1000Genomes
ExAC
TOPMed
gnomAD
COSV5352294483D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs74752511084N>SExAC
gnomAD
rs142443388085K>EgnomAD
rs78174565786V>IExAC
gnomAD
rs122791636989I>MgnomAD
rs204320519691N>DEnsembl
rs101334335691N>TTOPMed
rs204320526992N>HEnsembl
rs214307486092N>KEnsembl
rs204320529793E>DEnsembl
COSV53522345
rs547266367
94D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs54726636794D>V1000Genomes
ExAC
TOPMed
gnomAD
rs77370658695V>IExAC
gnomAD
rs36808725996N>YESP
ExAC
TOPMed
gnomAD
rs92247833598D>EEnsembl
rs100202466498D>GTOPMed
gnomAD
COSV9947522198D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs204320557199K>ETOPMed
rs93258869599K>REnsembl
rs771153752100V>IExAC
gnomAD
rs771153752100V>LExAC
gnomAD
rs758022549109V>AExAC
gnomAD
rs1407104876109V>ITOPMed
gnomAD
rs1207067386110Y>CgnomAD
rs751051311111R>MExAC
gnomAD
rs751051311111R>TExAC
gnomAD
rs2043216604112I>LTOPMed
rs754451999112I>MExAC
gnomAD
COSV53525540114S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
VAR_051237
rs2291284
115V>A
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2291284115V>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2291284115V>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs568124045115V>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1186356423116Q>KgnomAD
rs781770292116Q>PExAC
gnomAD
rs781770292116Q>RExAC
gnomAD
rs372828201117G>RESP
ExAC
TOPMed
gnomAD
rs2043216792117G>VTOPMed
rs745943352120P>LExAC
TOPMed
rs774578419120P>SExAC
gnomAD
rs200900858125K>NVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs775537313126E>*ExAC
gnomAD
rs1404404798128A>GTOPMed
gnomAD
rs761784192128A>TExAC
gnomAD
rs1404404798128A>VTOPMed
gnomAD
rs1394415208129V>ITOPMed
gnomAD
rs1333699955130R>CTOPMed
gnomAD
rs1221694183130R>HVariant of uncertain significance (Ensembl)TOPMed
rs765125216131G>SExAC
gnomAD
rs1452765611131G>VTOPMed
rs773020702134A>VExAC
TOPMed
gnomAD
rs762757088135L>FExAC
gnomAD
rs2043217212137A>GTOPMed
rs2043217212137A>VTOPMed
rs765960691138D>EExAC
TOPMed
gnomAD
rs1234922936139P>LTOPMed
gnomAD
rs1599034556139P>SEnsembl
rs754583272140Q>RExAC
gnomAD
rs767192630141Q>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1394417359142K>NTOPMed
gnomAD
rs897855395143I>MTOPMed
gnomAD
rs569306959143I>T1000Genomes
ExAC
TOPMed
gnomAD
rs1261947036144E>AgnomAD
TCGA novel145T>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs867599412147I>VgnomAD
rs866296665148S>FEnsembl
rs1460392226149D>ETOPMed
gnomAD
rs759943085150E>KTOPMed
COSV53523080
COSV99474928
151E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV53523080
COSV99474928
151E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2043217591152V>MTOPMed
rs551382228155W>R1000Genomes
ExAC
gnomAD
rs770824573156T>IExAC
gnomAD
rs774003532157K>EExAC
TOPMed
gnomAD
rs1458919052157K>RgnomAD
rs2043226008159F>SgnomAD
rs752280263160V>GExAC
gnomAD
rs560574115160V>I1000Genomes
ExAC
TOPMed
gnomAD
rs560574115160V>L1000Genomes
ExAC
TOPMed
gnomAD
rs1365334253161V>LgnomAD
rs2043226244165P>LEnsembl
COSV53522396167L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2043226288168I>MEnsembl
rs115566040170I>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2043226387170I>NEnsembl
rs1161020728172E>ATOPMed
gnomAD
rs1161020728172E>VTOPMed
gnomAD
rs779386627173K>NExAC
TOPMed
gnomAD
rs1287279671173K>RgnomAD
rs538687883174H>Q1000Genomes
ExAC
rs199980069175G>E1000Genomes
ExAC
TOPMed
gnomAD
rs2055062675175G>RTOPMed
rs2055062735176N>YEnsembl
rs1483657605177Y>CgnomAD
rs907633828179A>SEnsembl
rs1209745874181V>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs757607541181V>LExAC
TOPMed
gnomAD
rs757607541181V>MExAC
TOPMed
gnomAD
rs1391880712183M>VgnomAD
rs542557138184F>C1000Genomes
rs758701777185N>DExAC
gnomAD
rs2055063235186S>*Ensembl
COSV99475252
rs751845847
187R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs751845847187R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs781381476187R>HExAC
gnomAD
rs1441315938188I>TTOPMed
gnomAD
rs1378027848188I>VgnomAD
rs374592574190T>AESP
ExAC
TOPMed
gnomAD
rs1404664493192Y>CTOPMed
rs1344826677193T>RgnomAD
COSV53524556
COSV99475039
194L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99474844195L>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs144436026195L>FESP
rs2055063748196L>ITOPMed
rs2055063791196L>PTOPMed
rs2055063748196L>VTOPMed
TCGA novel197G>D
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs148391618197G>EESP
ExAC
TOPMed
gnomAD
rs775414046197G>RExAC
gnomAD
rs1194684847198Q>RTOPMed
gnomAD
rs377003215199D>EESP
ExAC
TOPMed
gnomAD
rs761175726200E>KExAC
gnomAD
rs2055064018201N>HgnomAD
TCGA novel202S>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs773638848204I>MExAC
gnomAD
rs201070916204I>T1000Genomes
ExAC
COSV53523974205K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1353381494205K>QgnomAD
rs2055064342207F>IEnsembl
rs1447480306207F>SgnomAD
rs1447480306207F>YgnomAD
rs763444418209A>SExAC
TOPMed
gnomAD
rs763444418209A>TExAC
TOPMed
gnomAD
COSV53525208209A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs751899070210S>FExAC
gnomAD
rs142511230211V>IESP
rs200539767212D>G1000Genomes
ExAC
TOPMed
gnomAD
rs767586061212D>NExAC
TOPMed
gnomAD
rs767586061212D>YExAC
TOPMed
gnomAD
rs777905751213R>QExAC
gnomAD
COSV53523071
rs202096165
213R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs150949358216I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ESP
TOPMed
dbSNP
gnomAD
rs1567799640218L>FEnsembl
rs1238439782219M>IVariant of uncertain significance (Ensembl)gnomAD
rs745860879219M>VExAC
TOPMed
gnomAD
rs1368925049220S>PTOPMed
gnomAD
rs2055094385222S>IEnsembl
rs2055094385222S>TEnsembl
TCGA novel223S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs780086951226C>FExAC
TOPMed
gnomAD
rs780086951226C>SExAC
TOPMed
gnomAD
rs780086951226C>YExAC
TOPMed
gnomAD
rs1472610739227I>MgnomAD
rs2055094475227I>TTOPMed
gnomAD
rs140784968227I>VESP
ExAC
TOPMed
gnomAD
rs754659334228Y>CExAC
TOPMed
gnomAD
rs781034394230T>SExAC
gnomAD
rs2055094656231L>WEnsembl
rs747810985232I>VExAC
TOPMed
gnomAD
rs2055094779233P>RTOPMed
gnomAD
rs769464386233P>SExAC
TOPMed
gnomAD
TCGA novel233P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1301788049234I>MgnomAD
rs1407489593234I>VgnomAD
rs545577983235R>C1000Genomes
ExAC
TOPMed
gnomAD
rs545577983235R>G1000Genomes
ExAC
TOPMed
gnomAD
rs748756964235R>HExAC
TOPMed
gnomAD
rs748756964235R>PExAC
TOPMed
gnomAD
rs1309947703236P>LTOPMed
gnomAD
rs1238594921238D>EgnomAD
rs1348768419238D>VgnomAD
rs1285045462239P>AgnomAD
TCGA novel242N>I
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1290861162243Q>EgnomAD
rs760085730244S>GExAC
gnomAD
rs1248983640244S>IgnomAD
rs772379633245L>FExAC
TOPMed
gnomAD
rs775903510246V>IExAC
gnomAD
TCGA novel248S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1268959016250L>RTOPMed
gnomAD
rs945416940251L>HTOPMed
rs1042393243253A>STOPMed
rs753997488254V>IExAC
gnomAD
rs761922405255V>GExAC
rs1172652141255V>LTOPMed
gnomAD
rs766419937257G>DExAC
gnomAD
rs766419937257G>VExAC
gnomAD
rs1303301232259A>GTOPMed
gnomAD
rs754927005259A>PExAC
gnomAD
rs754927005259A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs1335044465260R>*gnomAD
rs1335044465260R>GgnomAD
rs116640209260R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel261N>K
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1346296530261N>STOPMed
COSV99474840
rs755793736
262G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs777356149263V>FExAC
gnomAD
rs2055096056264A>TTOPMed
gnomAD
rs1342695789264A>VgnomAD
RCV000947854
rs76234567
265L>VBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2055096236266T>NTOPMed
rs1365138754267A>VTOPMed
gnomAD
rs2055096450269D>GEnsembl
rs1272455114269D>NgnomAD
rs1272455114269D>YgnomAD
rs546946265270Q>P1000Genomes
ExAC
TOPMed
gnomAD
rs546946265270Q>R1000Genomes
ExAC
TOPMed
gnomAD
rs778382967271D>NExAC
gnomAD
rs1440347575272H>NTOPMed
gnomAD
rs1440347575272H>YTOPMed
gnomAD
rs775752641273V>IExAC
gnomAD
rs775752641273V>LExAC
gnomAD
COSV53525526
COSV53525886
rs769009390
274A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV99474810277G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1173249123277G>EgnomAD
rs1468428390278S>CgnomAD
rs1336369674278S>ITOPMed
gnomAD
rs1336369674278S>NTOPMed
gnomAD
rs2055096959279P>LTOPMed
rs762118843279P>SExAC
gnomAD
rs1200905271281A>EgnomAD
rs750492735281A>PExAC
TOPMed
gnomAD
rs2055097302284K>EgnomAD
rs1176521215285E>DTOPMed
gnomAD
rs138092948286C>RESP
ExAC
TOPMed
gnomAD
COSV53523996286C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs760594321287L>FExAC
gnomAD
rs753601468289V>LExAC
TOPMed
gnomAD
rs2055182408292I>REnsembl
rs2055182439293K>TTOPMed
TCGA novel295Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs899298002296T>REnsembl
rs2055182592298Q>REnsembl
rs749918715299T>IExAC
gnomAD
rs749918715299T>NExAC
gnomAD
rs749918715299T>SExAC
gnomAD
rs1470476149300S>AEnsembl
rs1295169140300S>LgnomAD
rs1408971259302E>QTOPMed
gnomAD
rs2055182948303L>VTOPMed
rs2055183046304P>LTOPMed
TCGA novel304P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1308097181305Q>RgnomAD
rs372938548307T>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs372938548307T>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs201381442308S>TExAC
TOPMed
gnomAD
rs199677357310Q>HESP
ExAC
TOPMed
gnomAD
rs781746658311L>FExAC
TOPMed
gnomAD
rs2055197164312W>REnsembl
rs2055197401313Y>CTOPMed
rs2055197401313Y>FTOPMed
COSV53522621
rs1245848160
314Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs777986267315G>EExAC
TOPMed
gnomAD
rs756434791315G>RExAC
TOPMed
gnomAD
rs777986267315G>VExAC
TOPMed
gnomAD
rs771026427316E>DExAC
TOPMed
gnomAD
rs2055197647316E>KTOPMed
gnomAD
rs1483709043317H>YTOPMed
gnomAD
rs778993892318L>FExAC
gnomAD
TCGA novel319F>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99474886320M>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs768591011322H>RExAC
TOPMed
gnomAD
rs2055197871324K>ETOPMed
gnomAD
TCGA novel324K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2055197906325S>TEnsembl
COSV99474871
rs1389332658
325S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
TCGA novel326L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs776480478326L>VExAC
gnomAD
rs2055198061328V>GTOPMed
rs2055198092330P>LgnomAD
rs1406691168331Y>*TOPMed
rs761656261331Y>CExAC
TOPMed
gnomAD
rs1172581398332K>EEnsembl
rs1334334530333C>GgnomAD
rs1381013346333C>YgnomAD
rs376874619334E>DESP
ExAC
gnomAD
rs1452402608334E>KgnomAD
rs1465662513340G>DTOPMed
TCGA novel340G>V
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1312890662341A>GTOPMed
gnomAD
rs974950969344K>RTOPMed
gnomAD
rs974950969344K>TTOPMed
gnomAD
rs2055198710345L>VTOPMed
rs2143128574346K>MEnsembl
rs1220962418349Q>LTOPMed
rs1220962418349Q>PTOPMed
rs768143420351P>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs2055204877353T>ITOPMed
gnomAD
rs1208364921354H>QTOPMed
gnomAD
rs1257227369354H>RTOPMed
gnomAD
rs1323103969354H>YgnomAD
rs770722856355V>IExAC
gnomAD
rs770722856355V>LExAC
gnomAD
rs142890724356V>MESP
ExAC
TOPMed
gnomAD
rs774830500358H>QExAC
gnomAD
rs1325233526358H>RTOPMed
gnomAD
rs1231006617358H>YTOPMed
rs182958630359F>L1000Genomes
rs1490686647360V>GgnomAD
rs1472706556365P>LTOPMed
gnomAD
rs1428095109365P>SgnomAD
rs761273776368C>RExAC
gnomAD
rs1399343267368C>YTOPMed
gnomAD
rs2055205459369G>REnsembl
TCGA novel370L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1567804351370L>PEnsembl
rs1221801802371G>ATOPMed
gnomAD
rs1221801802371G>ETOPMed
gnomAD
rs199611919374N>S1000Genomes
ExAC
gnomAD
rs192561539375S>L1000Genomes
ExAC
TOPMed
gnomAD
rs146115629375S>PVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2055205725379R>GEnsembl
rs866658867379R>KEnsembl
rs138983162380R>IESP
TOPMed
gnomAD
rs138983162380R>KESP
TOPMed
gnomAD
rs1424119473381I>MgnomAD
rs2055208610382L>FEnsembl
TCGA novel382L>Y
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs368061961384R>GESP
ExAC
gnomAD
rs765643177384R>KExAC
TOPMed
gnomAD
rs750759556385R>*ExAC
TOPMed
gnomAD
TCGA novel385R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1197038288385R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs758654424386K>EExAC
gnomAD
rs1428971469387I>LgnomAD
rs751675054389V>AExAC
gnomAD
rs766541940389V>MExAC
gnomAD
rs370528879390S>GESP
ExAC
TOPMed
gnomAD
rs370528879390S>RESP
ExAC
TOPMed
gnomAD
rs1567804542391L>*Ensembl
rs1446876712392Q>*TOPMed
gnomAD
COSV99475106392Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1372987270395V>FTOPMed
gnomAD
rs2055209350396P>QEnsembl
rs2055209318396P>SEnsembl
rs1462504932397P>RgnomAD
COSV99474910399K>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs757229180399K>IExAC
TOPMed
gnomAD
rs757229180399K>RExAC
TOPMed
gnomAD
rs985064413401L>VEnsembl
rs1394497331402L>STOPMed
gnomAD
rs1409603438404T>ATOPMed
gnomAD
rs1319745888405I>MTOPMed
gnomAD
rs1337686577405I>VTOPMed
gnomAD
rs199959325406M>IEnsembl
rs752785068407K>TExAC
gnomAD
rs2055213081408D>YEnsembl
rs2055213117409S>ATOPMed
rs1202117035410E>KTOPMed
rs1054062004411K>*Ensembl
rs2055213245411K>TTOPMed
rs1320992113412H>PgnomAD
rs375089506413I>NESP
ExAC
TOPMed
gnomAD
rs375089506413I>TESP
ExAC
TOPMed
gnomAD
rs914018372413I>VTOPMed
gnomAD
rs1235036857414E>DTOPMed
gnomAD
rs778934448414E>GExAC
gnomAD
rs750244318415V>IExAC
TOPMed
gnomAD
rs779882381418R>QExAC
TOPMed
gnomAD
rs758332756418R>WExAC
TOPMed
gnomAD
rs142174717419K>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768327714420F>CExAC
gnomAD
TCGA novel421L>F
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1047024799425Q>*TOPMed
gnomAD
rs1047024799425Q>KTOPMed
gnomAD
COSV53521666426T>N
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1207492803427P>AEnsembl
rs1176027309427P>RTOPMed
gnomAD
COSV53523193428D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs11546851428D>GEnsembl
rs2055213964428D>HTOPMed
gnomAD
rs1599046894430H>PTOPMed
rs770302313430H>QExAC
TOPMed
gnomAD
rs1599046894430H>RTOPMed
rs1287011200431T>ITOPMed
gnomAD
rs763448323433I>MExAC
gnomAD
COSV53524679
rs547196290
433I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV99036774433I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs868227935434G>ATOPMed
gnomAD
rs868227935434G>ETOPMed
gnomAD
rs771257686435D>HExAC
gnomAD
rs2143133286436T>AEnsembl
rs1403920192436T>ITOPMed
gnomAD
rs1054036370437V>ETOPMed
gnomAD
rs1054036370437V>GTOPMed
gnomAD
COSV99474868439G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV53523806439G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1011253058440L>FTOPMed
gnomAD
rs759706997442E>GExAC
TOPMed
gnomAD
rs1239147562442E>KgnomAD
rs767730280443R>GExAC
gnomAD
rs767730280443R>WExAC
gnomAD
rs1019935434444C>YTOPMed
gnomAD
rs752836245445K>EExAC
TOPMed
gnomAD
COSV53524956445K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1215556826445K>TTOPMed
COSV99474823446A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs760769113446A>SVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1473119112446A>VgnomAD
COSV99475333448P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2055214866449S>LgnomAD
rs2055214830449S>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs758329724453R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs150891541453R>WESP
ExAC
TOPMed
gnomAD
COSV53524138455C>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1318388580456L>VTOPMed
gnomAD
rs779758236457M>RExAC
TOPMed
gnomAD
rs779758236457M>TExAC
TOPMed
gnomAD
rs1425219366458Q>*gnomAD
rs2055215105458Q>HTOPMed
rs773716694459L>IEnsembl
rs1222831859460I>STOPMed
rs2055215220460I>VTOPMed
rs754612118461Q>HExAC
gnomAD
rs780769053462T>MExAC
TOPMed
gnomAD
rs139420664463H>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2055215547468S>GEnsembl
rs2055217118469L>FgnomAD
rs1228313926470C>RTOPMed
gnomAD
rs1309377565471P>TgnomAD
COSV53525630
rs1041219889
472D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1461571955475E>GgnomAD
COSV53522827
COSV53522990
475E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs766606404476I>VEnsembl
rs1567804951482D>GEnsembl
rs2055217555482D>NEnsembl
TCGA novel485L>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1187077461486L>VgnomAD
rs1426237262488L>FgnomAD
rs1339094001491Q>*gnomAD
rs772541329492Q>*ExAC
gnomAD
rs775972108493F>LExAC
gnomAD
rs1208248288493F>YTOPMed
rs1567805024494P>LEnsembl
rs376282778496I>VESP
TOPMed
rs747270268498E>DExAC
TOPMed
gnomAD
rs764690858499S>TExAC
TOPMed
gnomAD
rs776877033501T>IExAC
gnomAD
rs1280553808503A>GgnomAD
rs189075538507I>L1000Genomes
ExAC
TOPMed
gnomAD
rs1441680795507I>MgnomAD
rs189075538507I>V1000Genomes
ExAC
TOPMed
gnomAD
COSV53523032508F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV104387459508F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs766235239
COSV53521941
COSV53523966
509L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
dbSNP
TCGA novel510S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV53524786
rs2055219863
511I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
gnomAD
rs2055219907512G>VEnsembl
rs1477867309515S>GgnomAD
rs1001915136515S>NTOPMed
rs149869108516L>FESP
ExAC
TOPMed
gnomAD
rs1336523883519T>ATOPMed
rs1418373764521V>DgnomAD
rs2055220202522N>HgnomAD
rs1158625200522N>SgnomAD
rs748317987523M>IExAC
gnomAD
rs150279090524E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1392958056525S>LTOPMed
rs1301450723528D>GTOPMed
gnomAD
TCGA novel528D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs540705052529Y>CVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1330656873529Y>HTOPMed
rs2143135202530S>N1000Genomes
rs2055220516530S>REnsembl
rs771958121531I>MExAC
TOPMed
gnomAD
rs1370962758533S>YgnomAD
rs2143135244534V>AEnsembl
rs1162101661534V>ITOPMed
gnomAD
rs1292443793535H>LTOPMed
gnomAD
rs1292443793535H>RTOPMed
gnomAD
rs1239314830535H>YgnomAD
rs775277312536D>HExAC
gnomAD
rs775277312536D>NExAC
gnomAD
rs2055220819537E>AgnomAD
rs760396053537E>KExAC
gnomAD
rs143893275538K>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs753584336539M>IExAC
gnomAD
rs2055220946540E>DTOPMed
rs1183498795540E>KTOPMed
rs761347492541E>AExAC
gnomAD
rs761347492541E>GExAC
gnomAD
rs764840042542Q>RExAC
gnomAD
COSV99475268544E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2055221093545I>SEnsembl
COSV99475104
rs2055221131
547Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs780653385548N>YExAC
TOPMed
gnomAD
rs2055221509549G>DTOPMed
gnomAD
COSV99475301
COSV99475308
rs2055221509
549G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
rs144354389551N>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2055221718552P>SgnomAD
rs377520875553E>KESP
TOPMed
gnomAD
rs781398729554E>KExAC
gnomAD
rs769878659555D>EExAC
gnomAD
rs748452029555D>NExAC
TOPMed
gnomAD
rs1445814939556K>EgnomAD
rs922747550558N>SEnsembl
rs749307765561D>GExAC
gnomAD
rs147822090562Q>EESP
ExAC
TOPMed
gnomAD
rs1351447743562Q>PTOPMed
gnomAD
rs1351447743562Q>RTOPMed
gnomAD
rs1281516689563E>GTOPMed
COSV53525309
rs2055222242
563E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs2055222350565N>DgnomAD
rs760592317566K>RExAC
gnomAD
rs141291873568P>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV99475299570D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs764745161571E>KExAC
TOPMed
gnomAD
rs2055222670572T>ITOPMed
rs200082532573K>E1000Genomes
ExAC
TOPMed
gnomAD
COSV53523689574E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2143135918575S>CEnsembl
rs201494014575S>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs201494014575S>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1475797990575S>RgnomAD
rs752173975576T>IExAC
TOPMed
gnomAD
rs752173975576T>SExAC
TOPMed
gnomAD
rs1464857843577S>AgnomAD
rs1037066075577S>LTOPMed
gnomAD
rs755520246578C>RExAC
gnomAD
rs2055223208579P>LTOPMed
rs867204903579P>SEnsembl
rs1380141948581V>ITOPMed
gnomAD
rs781650595582Q>EExAC
gnomAD
rs781650595582Q>KExAC
gnomAD
rs2055223354582Q>PEnsembl
TCGA novel584R>E
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1456459887584R>GgnomAD
rs758410982584R>KEnsembl
rs752965842585A>GExAC
gnomAD
rs1194637995586A>STOPMed
rs377086049587L>VESP
ExAC
gnomAD
rs1316904344588L>PTOPMed
gnomAD
rs111806972590A>VEnsembl
rs978297932592L>FTOPMed
gnomAD
rs1231542526593H>LTOPMed
gnomAD
COSV53522770
rs760153881
593H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs2055229292595A>PTOPMed
rs1352014468596Y>CgnomAD
rs1283943146598E>KTOPMed
gnomAD
rs1283943146598E>QTOPMed
gnomAD
rs2055229476599T>ITOPMed
COSV53522510
COSV99474831
rs1488015779
601L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
COSV53522510
COSV99474831
601L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2055229611602L>PgnomAD
rs2055229681603P>SgnomAD
rs1385534356604H>QTOPMed
gnomAD
rs756500735605L>FExAC
TOPMed
gnomAD
rs2055229827606K>EEnsembl
rs1197884659606K>RgnomAD
COSV99475270607D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1364232028608I>VgnomAD
rs369079761610A>GESP
ExAC
TOPMed
gnomAD
rs369079761610A>VESP
ExAC
TOPMed
gnomAD
rs2055229968611Q>ETOPMed
gnomAD
rs78812107614T>M1000Genomes
ExAC
TOPMed
gnomAD
rs765383045616F>YExAC
gnomAD
rs1376046704617L>VTOPMed
COSV53522937618K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2055235295619Y>CEnsembl
rs750502902620L>SExAC
TOPMed
gnomAD
rs1043773549627C>FTOPMed
gnomAD
rs1196542804627C>GgnomAD
rs1043773549627C>STOPMed
gnomAD
rs1237408400628S>GgnomAD
rs1410968138629E>DTOPMed
gnomAD
rs575494083629E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs756048119632T>AExAC
TOPMed
gnomAD
rs756048119632T>PExAC
TOPMed
gnomAD
rs777235078632T>SExAC
TOPMed
gnomAD
rs2055235939633M>TTOPMed
rs1219799073633M>VTOPMed
gnomAD
rs1567805782634T>SgnomAD
rs1400076437635L>FgnomAD
COSV99475232636P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs770722803637G>RExAC
TOPMed
gnomAD
COSV53525696638I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs907387439639H>YEnsembl
rs1231929388640P>TTOPMed
gnomAD
rs1340541150643L>STOPMed
rs745518843644N>KExAC
gnomAD
rs2055236406645Q>RgnomAD
COSV99475294
rs1220749760
646I>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs753691480649W>*ExAC
gnomAD
rs369956349650I>MVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs896670396651C>YEnsembl
rs745547054652L>PExAC
TOPMed
gnomAD
rs1432137072653L>VTOPMed
rs1188030497655D>ETOPMed
rs779449337655D>NExAC
gnomAD
rs138167117656A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567807228659T>NEnsembl
rs145032192659T>PESP
ExAC
gnomAD
rs2055274024660V>AEnsembl
rs374296971660V>IESP
ExAC
TOPMed
gnomAD
rs2055274090661V>AEnsembl
rs2055274117662V>ITOPMed
rs2055274117662V>LTOPMed
rs2055274175664M>TTOPMed
rs2055274213665P>STOPMed
rs1362489311667A>PgnomAD
rs2143151989668K>EEnsembl
rs770196074669R>SExAC
gnomAD
rs377685856673N>HESP
ExAC
TOPMed
gnomAD
rs2055274413675Y>*gnomAD
rs1366408005675Y>HTOPMed
gnomAD
rs1366408005675Y>NTOPMed
gnomAD
rs1344250446676K>QTOPMed
gnomAD
rs1272310086680S>FTOPMed
rs192947561682I>V1000Genomes
ExAC
gnomAD
rs565913198683S>P1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel683S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1241937824686S>CTOPMed
rs1266668794686S>TTOPMed
rs201377381687E>GESP
TOPMed
gnomAD
rs2055276305687E>QEnsembl
rs1315099697688L>VgnomAD
rs754543968689N>KExAC
TOPMed
gnomAD
rs2055276490690K>ETOPMed
rs1288744246691I>MTOPMed
gnomAD
rs1040324909692E>GTOPMed
rs1567807354693V>GEnsembl
rs780661064693V>IExAC
TOPMed
gnomAD
rs2055276652695F>VTOPMed
rs770251051696R>QExAC
TOPMed
gnomAD
COSV99475199
rs748697836
696R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs370393293697E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138866532699Q>*ESP
gnomAD
rs138866532699Q>EESP
gnomAD
rs775892220699Q>RExAC
TOPMed
gnomAD
rs774703203700K>QExAC
rs1261406863702N>DgnomAD
rs767744271702N>IExAC
TOPMed
gnomAD
rs2055277056702N>KTOPMed
rs767744271702N>TExAC
TOPMed
gnomAD
rs201123173704E>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375576112705K>EESP
ExAC
TOPMed
gnomAD
rs750624263705K>NTOPMed
gnomAD
rs1257455439706N>SgnomAD
rs765159351707N>SExAC
gnomAD
COSV53525146708R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs750185926709G>VExAC
gnomAD
rs758276703712S>LExAC
gnomAD
rs142111850713I>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368470408714E>KESP
ExAC
gnomAD
rs1198526484716L>MgnomAD
rs2055277560716L>QEnsembl
rs747612462717E>DExAC
TOPMed
gnomAD
rs780715925717E>QExAC
gnomAD
rs778277611720*>CExAC
TOPMed
gnomAD
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