O60291 · MGRN1_HUMAN

  • Protein
    E3 ubiquitin-protein ligase MGRN1
  • Gene
    MGRN1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

155250100150200250300350400450500550
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14560294983S>CgnomAD
rs14087725703S>PVariant of uncertain significance (Ensembl)gnomAD
rs14087725703S>TVariant of uncertain significance (Ensembl)gnomAD
rs7784747154I>LExAC
gnomAD
rs14898287605L>FEnsembl
rs11955664535L>RgnomAD
COSV521484358R>Ccosmic curated
rs7577978258R>HExAC
TOPMed
gnomAD
rs7795959769I>LExAC
TOPMed
gnomAD
COSV52149572
COSV99273956
9I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7795959769I>VExAC
TOPMed
gnomAD
COSV52150862
rs1897591205
10A>Vcosmic curated
Ensembl
rs189759149011G>ATOPMed
rs86839205311G>REnsembl
rs159624571312V>GEnsembl
rs128391667812V>LTOPMed
gnomAD
COSV52149683
rs1283916678
12V>Mcosmic curated
TOPMed
gnomAD
rs78118931715I>LExAC
gnomAD
rs74789295715I>MExAC
TOPMed
gnomAD
TCGA novel16D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77014457716D>HExAC
gnomAD
COSV99274141
rs1388180670
18Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs124505907218Q>PgnomAD
COSV5215209619A>Tcosmic curated
rs76314418919A>VExAC
TOPMed
gnomAD
rs37321626921S>LESP
ExAC
TOPMed
gnomAD
rs37321626921S>WESP
ExAC
TOPMed
gnomAD
rs116367050422A>SgnomAD
COSV52153052
rs1014479330
22A>Vcosmic curated
TOPMed
gnomAD
rs147187714523Y>CgnomAD
COSV10457562123Y>Dcosmic curated
rs138972695524R>CTOPMed
gnomAD
rs138972695524R>GTOPMed
gnomAD
rs76801498024R>PExAC
TOPMed
gnomAD
rs140094071625Y>CgnomAD
rs131982095426P>ATOPMed
gnomAD
COSV5215339627P>Qcosmic curated
rs75306895827P>RExAC
gnomAD
rs140387631827P>STOPMed
gnomAD
rs90758019028K>NTOPMed
gnomAD
rs102280783828K>QTOPMed
gnomAD
rs37438173331N>DESP
ExAC
TOPMed
gnomAD
rs87904168332Y>*Ensembl
COSV5215383234A>Vcosmic curated
COSV104575566
rs751035093
35S>Lcosmic curated
ExAC
TOPMed
gnomAD
TCGA novel36H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs207837872836H>RgnomAD
rs75447068136H>YExAC
gnomAD
rs76758079537F>LExAC
TOPMed
gnomAD
rs75608478938F>LExAC
TOPMed
gnomAD
rs37746688039M>IESP
ExAC
TOPMed
gnomAD
COSV9927476139M>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs77777199439M>VExAC
gnomAD
rs75742917140G>AExAC
gnomAD
COSV9927462241G>*cosmic curated
TCGA novel42E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs118579598642E>QTOPMed
gnomAD
rs207837917543K>EEnsembl
COSV9927423343K>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5214924743K>Rcosmic curated
rs125791669644F>LTOPMed
gnomAD
rs77915972846T>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV5214853746T>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs77915972846T>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs37115910347P>LESP
ExAC
TOPMed
gnomAD
rs76913672548H>DExAC
gnomAD
rs76913672548H>NExAC
gnomAD
COSV5214853748H>T
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76913672548H>YExAC
gnomAD
rs207837980049P>LTOPMed
COSV107273956
rs1338424029
50E>Kcosmic curated
gnomAD
rs207837993251G>DTOPMed
gnomAD
rs207837990251G>SgnomAD
rs207837993251G>VTOPMed
gnomAD
COSV104575622
rs1567190973
54F>Lcosmic curated
gnomAD
COSV104575623
TCGA novel
55G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA
rs148250554256E>DEnsembl
rs207838018057N>KEnsembl
rs148799748657N>STOPMed
rs207838024158M>IEnsembl
rs156719099858M>VVariant of uncertain significance (Ensembl)gnomAD
COSV5215513760L>Rcosmic curated
rs129642828660L>VgnomAD
rs207838032961N>SEnsembl
rs20049186262F>LESP
ExAC
TOPMed
gnomAD
rs207838039862F>LEnsembl
COSV5215160164G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs130566064765S>GTOPMed
rs75224784266R>CExAC
TOPMed
gnomAD
rs75224784266R>GExAC
TOPMed
gnomAD
rs37485248466R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV52149608
rs764059983
67P>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV10727385367P>Scosmic curated
rs77855095868V>FExAC
gnomAD
rs77855095868V>LExAC
gnomAD
rs86668922669Q>REnsembl
rs142197696170F>IgnomAD
rs74960105070F>LExAC
TOPMed
gnomAD
rs124327308871P>HTOPMed
gnomAD
COSV99274722
rs1243273088
71P>Lcosmic curated
TOPMed
gnomAD
COSV52150181
rs1014474091
71P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs76038514272Y>CExAC
gnomAD
rs77523776872Y>HExAC
gnomAD
COSV99274581
rs200497316
73V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs159628161374T>ATOPMed
rs159628161374T>PTOPMed
rs97317142275P>LTOPMed
gnomAD
rs115644015677P>HTOPMed
gnomAD
rs115644015677P>RTOPMed
gnomAD
rs77600190577P>TExAC
TOPMed
gnomAD
rs20216397078H>DVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs20216397078H>NVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs369377836
COSV52155037
78H>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
cosmic curated
rs144304025278H>RgnomAD
rs55094603779E>KTOPMed
gnomAD
rs37363177380P>LESP
ExAC
TOPMed
gnomAD
rs37363177380P>RESP
ExAC
TOPMed
gnomAD
rs75182382481V>M1000Genomes
ExAC
TOPMed
gnomAD
COSV52152712
rs755124130
83T>MVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs146604405884L>VgnomAD
COSV99274663
rs1450030540
85R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV99274456
rs756656065
85R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs127024376188V>MgnomAD
COSV10510055389N>Icosmic curated
rs75774599390I>FExAC
gnomAD
rs97552191790I>TTOPMed
gnomAD
rs75774599390I>VExAC
gnomAD
rs74672864291R>CExAC
TOPMed
gnomAD
rs74672864291R>GExAC
TOPMed
gnomAD
COSV99274277
rs944959628
91R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs94495962891R>PVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs147388687894S>YTOPMed
gnomAD
rs20133257495L>V1000Genomes
ExAC
TOPMed
gnomAD
rs76979863696R>QExAC
TOPMed
gnomAD
rs53106950096R>W1000Genomes
ExAC
gnomAD
COSV52152668
rs762850617
98V>Gcosmic curated
ExAC
gnomAD
rs140452243498V>MgnomAD
rs133776618599R>GgnomAD
rs768946056101K>EExAC
TOPMed
gnomAD
rs1332755943102D>HgnomAD
COSV99274821102D>Ncosmic curated
rs765865730103D>AExAC
gnomAD
rs776858596103D>NExAC
TOPMed
gnomAD
rs776858596103D>YExAC
TOPMed
gnomAD
rs1401246921104A>TTOPMed
gnomAD
rs201331866105D>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs201331866105D>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs755777024106S>GExAC
gnomAD
rs777339703107P>TExAC
TOPMed
gnomAD
COSV52150214
rs756811535
109E>Kcosmic curated
ExAC
TOPMed
gnomAD
rs2078435917110D>YEnsembl
COSV105100551111G>Dcosmic curated
rs745861566111G>S1000Genomes
ExAC
TOPMed
gnomAD
rs1196444786111G>VTOPMed
rs888067073112D>GTOPMed
rs1382991351112D>NTOPMed
gnomAD
rs1423526553113K>ETOPMed
gnomAD
rs1423526553113K>QTOPMed
gnomAD
COSV99273619113K>Rcosmic curated
COSV52154631
rs2078436187
114P>Lcosmic curated
TOPMed
rs369428684115R>QESP
ExAC
TOPMed
gnomAD
rs1392859102115R>WgnomAD
rs1327970252116V>LTOPMed
gnomAD
rs201676811117L>FESP
ExAC
TOPMed
gnomAD
rs201676811117L>VESP
ExAC
TOPMed
gnomAD
rs376313526118Y>CESP
TOPMed
gnomAD
COSV99274223118Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs369600911119S>GESP
ExAC
TOPMed
gnomAD
COSV52150832119S>Ncosmic curated
rs1021045397119S>RTOPMed
gnomAD
COSV99273776121E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs770030855121E>GExAC
gnomAD
rs773333527122F>CExAC
gnomAD
rs1326475143122F>LTOPMed
gnomAD
rs773333527122F>YExAC
gnomAD
rs763427469123T>IExAC
TOPMed
gnomAD
rs763427469123T>SExAC
TOPMed
gnomAD
rs2078437030125D>GgnomAD
rs759852368125D>NExAC
TOPMed
gnomAD
rs756899428126A>GExAC
gnomAD
rs376391281126A>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV52153482
rs376391281
126A>TVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs4468625127D>EEnsembl
COSV52150720
rs749894917
127D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs201088254129R>CVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52151113
rs780003440
129R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs780003440129R>LExAC
TOPMed
gnomAD
rs781100866130V>LExAC
TOPMed
gnomAD
COSV99274112
rs781100866
130V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs868569680131A>DgnomAD
rs1467047398131A>TTOPMed
gnomAD
COSV52148021
rs868569680
131A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs1334407954132I>VTOPMed
gnomAD
rs1200363314133T>ATOPMed
rs1321259062133T>ITOPMed
gnomAD
COSV52151212134I>Fcosmic curated
rs376198884134I>LESP
ExAC
TOPMed
gnomAD
rs749323134134I>TExAC
TOPMed
gnomAD
rs376198884134I>VESP
ExAC
TOPMed
gnomAD
rs1277308368135Y>STOPMed
rs1226772563137Q>LgnomAD
rs1226772563137Q>RgnomAD
rs1377257164138A>PTOPMed
rs1377257164138A>STOPMed
rs760005992139S>LExAC
TOPMed
gnomAD
rs1450921488139S>TTOPMed
gnomAD
rs775819143140E>GExAC
TOPMed
gnomAD
COSV106352359144N>Scosmic curated
COSV52149284
rs749935176
145G>Dcosmic curated
ExAC
TOPMed
gnomAD
COSV108055730
rs1192289812
145G>Scosmic curated
TOPMed
gnomAD
COSV106352361
rs749935176
145G>Vcosmic curated
ExAC
TOPMed
gnomAD
rs1174018815146R>KgnomAD
COSV104575607
rs201958896
147A>TVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1466759648148V>AgnomAD
rs2078438888148V>LEnsembl
rs1199029852149Y>CgnomAD
rs1442986144150S>GTOPMed
gnomAD
rs202235487150S>N1000Genomes
ExAC
TOPMed
gnomAD
rs1442986144150S>RTOPMed
gnomAD
rs1426078988151P>LgnomAD
rs2078566362152K>ETOPMed
COSV99274054152K>Ncosmic curated
rs1054921691152K>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs2078566422153S>NTOPMed
rs1466506472153S>RgnomAD
rs894769781154P>ATOPMed
gnomAD
rs2078566567154P>LgnomAD
rs894769781154P>STOPMed
gnomAD
COSV52148827
rs201648809
155S>Lcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs201648809155S>W1000Genomes
ExAC
TOPMed
gnomAD
rs745491022156L>VExAC
TOPMed
gnomAD
rs897388494157Q>*TOPMed
gnomAD
COSV52153364157Q>Lcosmic curated
rs771747032157Q>PExAC
TOPMed
gnomAD
rs771747032157Q>RExAC
TOPMed
gnomAD
rs1256405681158S>FTOPMed
rs1596288882158S>PEnsembl
rs1219057127159E>AgnomAD
rs761551036159E>DExAC
TOPMed
gnomAD
COSV52148697
rs776522571
159E>Kcosmic curated
ExAC
TOPMed
gnomAD
rs764998848160T>IExAC
TOPMed
gnomAD
rs758611746161V>FVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV105100637
rs758611746
161V>IVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV105864394
rs758611746
161V>LVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs1184825208162H>NgnomAD
rs1184825208162H>YgnomAD
rs946956761163Y>CVariant of uncertain significance (Ensembl)1000Genomes
TOPMed
gnomAD
rs946956761163Y>FVariant of uncertain significance (Ensembl)1000Genomes
TOPMed
gnomAD
rs755510350163Y>HExAC
TOPMed
gnomAD
rs781511044164K>EExAC
gnomAD
rs746091759164K>NEnsembl
rs2078567790164K>RTOPMed
gnomAD
COSV52151485
rs748568335
165R>Tcosmic curated
ExAC
TOPMed
gnomAD
COSV105864376
rs754852925
166G>Rcosmic curated
ExAC
gnomAD
COSV52151006166G>Vcosmic curated
rs1596288954167V>GEnsembl
COSV105100523
rs778249713
167V>Lcosmic curated
ExAC
gnomAD
rs1567200676168S>GEnsembl
rs2078568095168S>REnsembl
rs137991944169Q>*1000Genomes
ExAC
gnomAD
rs1449630829169Q>HgnomAD
rs775070877170Q>HExAC
TOPMed
gnomAD
rs771794136170Q>LExAC
TOPMed
gnomAD
rs746464025171F>LExAC
TOPMed
gnomAD
COSV52150698
COSV52153007
rs776483157
171F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs762927294171F>YExAC
TOPMed
gnomAD
COSV108055653
rs761712307
172S>Ccosmic curated
ExAC
TOPMed
gnomAD
rs761712307172S>FExAC
TOPMed
gnomAD
rs2078568645173L>QTOPMed
rs1279655026173L>VgnomAD
rs765086784174P>LExAC
TOPMed
gnomAD
rs2141898710174P>SEnsembl
rs1166421755175S>ATOPMed
gnomAD
rs1262522178176F>LTOPMed
gnomAD
rs1194809432176F>STOPMed
rs772974063177K>EExAC
TOPMed
gnomAD
TCGA novel177K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs763172231178I>TExAC
gnomAD
rs2078569090178I>VEnsembl
rs766441935179D>HExAC
TOPMed
gnomAD
rs766441935179D>NExAC
TOPMed
gnomAD
rs766441935179D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel
rs547655913
180F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
1000Genomes
ExAC
gnomAD
rs2141898759180F>VEnsembl
rs754962642181S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs2078569584182E>DTOPMed
rs2078569551182E>QgnomAD
rs1156338106183W>*gnomAD
rs753296392183W>RExAC
gnomAD
rs1266965036185D>GgnomAD
rs529922500186D>E1000Genomes
ExAC
TOPMed
gnomAD
rs2078569746186D>VgnomAD
rs549665666187E>K1000Genomes
ExAC
TOPMed
gnomAD
rs549665666187E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs896267391188L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs201637313189N>D1000Genomes
ExAC
TOPMed
gnomAD
rs764248204189N>SExAC
gnomAD
rs754439115190F>SExAC
gnomAD
rs2078759918191D>ETOPMed
gnomAD
rs1332277475191D>HTOPMed
gnomAD
rs1416191177193D>GgnomAD
COSV52155167193D>Ncosmic curated
rs762380681194R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs750745824194R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs762380681194R>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs754587543195G>CExAC
TOPMed
gnomAD
rs754587543195G>SExAC
TOPMed
gnomAD
rs2078760178195G>VTOPMed
gnomAD
COSV52152079
rs369031220
196V>Lcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs369031220196V>MESP
ExAC
TOPMed
gnomAD
rs1181439173197F>LTOPMed
gnomAD
rs1457938428197F>YgnomAD
rs2078760588198P>QTOPMed
rs1234152125198P>TTOPMed
rs2078760699199V>ATOPMed
gnomAD
rs757204916199V>IExAC
TOPMed
gnomAD
rs757204916199V>LExAC
TOPMed
gnomAD
rs986991314200V>LEnsembl
rs375630510201I>MESP
ExAC
TOPMed
gnomAD
rs1441429811201I>VTOPMed
rs772207904202Q>HExAC
gnomAD
rs529336988202Q>REnsembl
rs912638673203A>TgnomAD
rs1169730863203A>VTOPMed
gnomAD
rs775904616205V>LExAC
gnomAD
rs775904616205V>MExAC
gnomAD
COSV52151307206D>Ncosmic curated
COSV99273894
COSV99274013
207E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99274013207E>Kcosmic curated
rs2141923540207E>QEnsembl
TCGA novel207-208EG>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs975437732208G>EEnsembl
rs1401760451209D>ETOPMed
gnomAD
rs2078761174209D>GTOPMed
gnomAD
rs2078761149209D>NVariant of uncertain significance (Ensembl)TOPMed
COSV52151564210V>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1160872060211V>LTOPMed
rs769954022212E>KExAC
gnomAD
rs557550690214T>AExAC
TOPMed
gnomAD
rs369656469215G>CESP
TOPMed
gnomAD
rs369656469215G>SESP
TOPMed
gnomAD
rs1242446793216H>DgnomAD
rs746652031216H>QExAC
TOPMed
gnomAD
rs1242446793216H>YgnomAD
rs2078772012217A>GgnomAD
COSV52149070
rs372657927
217A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV99274706
rs2078772012
217A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs375802956218H>QESP
ExAC
TOPMed
gnomAD
rs776387378219V>MExAC
TOPMed
gnomAD
rs373230459220L>FESP
ExAC
TOPMed
gnomAD
rs2141924788220L>PEnsembl
rs373230459220L>VESP
ExAC
TOPMed
gnomAD
rs762992853221L>FExAC
gnomAD
rs2078772289221L>SEnsembl
rs1164759482222A>VTOPMed
gnomAD
COSV99274005223A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52150742
rs2141924822
224F>Lcosmic curated
Ensembl
rs2078772401225E>GEnsembl
TCGA novel225E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs995334537227H>YTOPMed
gnomAD
rs778961295228M>LExAC
TOPMed
gnomAD
rs2078850592228M>TTOPMed
gnomAD
rs778961295228M>VExAC
TOPMed
gnomAD
rs558840883229D>E1000Genomes
ExAC
TOPMed
gnomAD
COSV99274164230G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99275049
rs1375456780
230G>Dcosmic curated
TOPMed
gnomAD
rs758776706230G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV99274164
rs758776706
230G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs2078850759231S>NgnomAD
COSV52149027
rs747300145
233S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1458081603234V>LTOPMed
gnomAD
rs1359789058236P>ATOPMed
gnomAD
rs1359789058236P>TTOPMed
gnomAD
rs769513294237L>SExAC
gnomAD
rs1218811609238K>NgnomAD
rs748915359238K>QExAC
gnomAD
rs770629013239Q>HExAC
gnomAD
COSV99273629241Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2078934579243V>MTOPMed
rs749488380244D>AExAC
TOPMed
gnomAD
rs372788282244D>NESP
ExAC
TOPMed
gnomAD
rs774328339245R>QExAC
TOPMed
gnomAD
COSV52148848
rs771120818
245R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs376381693246V>IESP
ExAC
TOPMed
gnomAD
rs2078934845247S>CEnsembl
rs368889081247S>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368889081247S>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368889081247S>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200319149248Y>CEnsembl
rs761250006248Y>HExAC
gnomAD
rs764378037249L>FExAC
TOPMed
gnomAD
rs764378037249L>VExAC
TOPMed
gnomAD
COSV99273787251Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52148934
rs766004449
252E>Dcosmic curated
ExAC
gnomAD
rs201053994253I>M1000Genomes
TOPMed
rs2078935269254Y>CgnomAD
COSV108055824255G>Dcosmic curated
rs2078935297256I>LEnsembl
COSV52150914258N>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs527392096258N>K1000Genomes
ExAC
TOPMed
gnomAD
rs2078935362260N>TEnsembl
rs547131374261N>K1000Genomes
ExAC
gnomAD
COSV99273878262Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1394671488262Q>RgnomAD
COSV52152836263E>*cosmic curated
rs1175546152264T>SgnomAD
rs567276557265K>E1000Genomes
ExAC
TOPMed
gnomAD
rs768844802266P>HExAC
gnomAD
COSV52154842266P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1252165993266P>SgnomAD
COSV52148312
rs770137190
267S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs770137190267S>WExAC
TOPMed
gnomAD
rs367598108268D>EESP
ExAC
TOPMed
gnomAD
rs775164708268D>VExAC
gnomAD
rs200448887269D>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1160958383269D>GgnomAD
COSV106088906
rs753220982
269D>Ncosmic curated
ExAC
TOPMed
gnomAD
rs753220982269D>YExAC
TOPMed
gnomAD
COSV52151737
rs1440372740
270E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1440372740270E>QTOPMed
gnomAD
rs1374027200271N>YTOPMed
gnomAD
COSV52149397
rs367993132
272S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750360710272S>TExAC
TOPMed
gnomAD
rs779986534273D>NExAC
gnomAD
TCGA novel274N>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel274N>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV52149265275S>Ncosmic curated
rs751862904276N>KExAC
TOPMed
gnomAD
rs1374620587276N>SgnomAD
rs755101650277E>*ExAC
gnomAD
rs34075195277E>AESP
ExAC
TOPMed
gnomAD
rs755101650277E>KExAC
gnomAD
COSV99074830
rs755101650
277E>Qcosmic curated
ExAC
gnomAD
rs1273423077279V>LgnomAD
COSV52150629282L>Qcosmic curated
COSV52148419283S>Fcosmic curated
rs1596308281284D>AEnsembl
rs778303104284D>HExAC
TOPMed
gnomAD
rs778303104284D>NExAC
TOPMed
gnomAD
rs1460723563285L>PgnomAD
COSV52153700
rs746677773
286R>Qcosmic curated
ExAC
gnomAD
COSV52152169
rs774566837
286R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs2078988399287D>EEnsembl
COSV99274901287D>Ncosmic curated
rs1328215883288T>MTOPMed
gnomAD
rs1328215883288T>RTOPMed
gnomAD
COSV52150893289L>Pcosmic curated
rs996251737289L>VTOPMed
gnomAD
rs909674780290I>FTOPMed
rs909674780290I>VTOPMed
rs369556749294R>CESP
ExAC
TOPMed
gnomAD
COSV104575576
rs201033314
294R>Hcosmic curated
ExAC
TOPMed
gnomAD
rs201033314294R>LExAC
TOPMed
gnomAD
COSV99274052294R>Scosmic curated
rs2078988914297C>SEnsembl
rs762966871297C>YExAC
TOPMed
gnomAD
COSV99274904298L>Icosmic curated
rs766286891298L>VExAC
TOPMed
gnomAD
rs1255278998300T>ITOPMed
gnomAD
rs1050442999300T>PTOPMed
gnomAD
rs1050442999300T>STOPMed
gnomAD
rs796858556301S>FEnsembl
rs1474509251303A>GTOPMed
gnomAD
rs889925387303A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV52148270
rs1474509251
303A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
COSV52150708
rs1033095057
304D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
rs1033095057304D>YTOPMed
rs1397380373305T>AgnomAD
rs752945558305T>MExAC
TOPMed
gnomAD
rs777827864307R>HExAC
gnomAD
rs1315128902308Y>CTOPMed
gnomAD
rs1315128902308Y>FTOPMed
gnomAD
COSV52153873309Q>Ecosmic curated
rs749852307310A>VExAC
gnomAD
rs1269222772311N>SgnomAD
rs1269222772311N>TgnomAD
rs2078989749312N>KTOPMed
rs779366047312N>SExAC
gnomAD
rs746168311313C>YExAC
gnomAD
rs2078989869316C>FTOPMed
COSV52153241317R>Lcosmic curated
COSV99274569317R>Qcosmic curated
rs1485279043317R>WTOPMed
gnomAD
rs2079078609319P>REnsembl
rs747795132319P>SExAC
TOPMed
gnomAD
rs765351465321R>PExAC
TOPMed
gnomAD
rs765351465321R>QExAC
TOPMed
gnomAD
COSV105864455
rs761920721
321R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs1469001183323L>VgnomAD
rs1249070512325Q>EgnomAD
rs775510468327R>QExAC
TOPMed
gnomAD
COSV52153132
rs1418934993
327R>Wcosmic curated
gnomAD
rs751936825328A>PExAC
gnomAD
rs751936825328A>SExAC
gnomAD
rs751936825328A>TExAC
gnomAD
COSV52151672
rs556808615
328A>Vcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV52150108
rs373355174
330R>Qcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs200157628330R>WVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel332K>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1394257875332K>NTOPMed
gnomAD
rs771979496333P>LExAC
gnomAD
rs2079079378333P>STOPMed
rs1352140271334G>RgnomAD
rs760512522335A>PExAC
gnomAD
rs760512522335A>SExAC
gnomAD
rs1429727957335A>VTOPMed
rs1034798304336L>VTOPMed
gnomAD
rs2079079748337S>CTOPMed
gnomAD
rs2079079748337S>FTOPMed
gnomAD
rs2079079748337S>YTOPMed
gnomAD
rs1249626621338P>HgnomAD
rs1249626621338P>LgnomAD
rs1223867269338P>TgnomAD
TCGA novel339V>C
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV99273971339V>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs539120656339V>L1000Genomes
ExAC
TOPMed
gnomAD
rs539120656339V>M1000Genomes
ExAC
TOPMed
gnomAD
rs1474462110340S>CTOPMed
gnomAD
rs1212594115340S>PgnomAD
rs763398541341F>LExAC
gnomAD
rs766947289342S>IExAC
TOPMed
gnomAD
rs752094551343P>RExAC
gnomAD
rs889903311343P>STOPMed
gnomAD
rs767992365344V>FExAC
TOPMed
gnomAD
COSV52148671
rs767992365
344V>Icosmic curated
ExAC
TOPMed
gnomAD
rs1372277099345L>MgnomAD
rs1311969982346A>TgnomAD
rs753604222346A>VExAC
TOPMed
gnomAD
rs2079080499347Q>HTOPMed
rs2079080523348S>NEnsembl
rs2079080586350E>KTOPMed
COSV52154482350E>Qcosmic curated
rs778293287351H>LExAC
TOPMed
gnomAD
rs778293287351H>RExAC
TOPMed
gnomAD
rs1228220946352D>HTOPMed
gnomAD
rs1326079214353E>KTOPMed
gnomAD
rs1210622871354H>LgnomAD
rs1484956270354H>NgnomAD
rs757822441354H>QExAC
TOPMed
gnomAD
rs1210622871354H>RgnomAD
COSV104575602
rs912000315
355S>Fcosmic curated
TOPMed
gnomAD
TCGA novel356C>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA
TCGA novel356C>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV52153789
rs375770946
356C>Ycosmic curated
ESP
rs774516010357P>AExAC
TOPMed
gnomAD
COSV105100638
rs199644481
357P>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV99274451
rs774516010
357P>Scosmic curated
ExAC
TOPMed
gnomAD
rs774516010357P>TExAC
TOPMed
gnomAD
rs768100305358F>SExAC
gnomAD
COSV52154451359K>*cosmic curated
TCGA novel360K>N
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV99274875361S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs775740684361S>AExAC
gnomAD
rs1222428100362K>QTOPMed
gnomAD
rs761140588363P>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs368527662363P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368527662363P>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761140588363P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1596314880364H>PTOPMed
rs2079143984364H>QTOPMed
rs1596314880364H>RTOPMed
rs2079143870364H>YEnsembl
rs372525104366A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1233895992366A>VTOPMed
gnomAD
COSV52152817367S>Acosmic curated
rs1596314891368L>PTOPMed
gnomAD
rs1596314891368L>RTOPMed
gnomAD
rs752548668369A>GExAC
TOPMed
gnomAD
rs372779477369A>SESP
ExAC
gnomAD
rs752548668369A>VExAC
TOPMed
gnomAD
rs867880460370S>IEnsembl
rs752757705370S>RExAC
TOPMed
gnomAD
COSV99274227372K>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs749539082372K>QExAC
TOPMed
gnomAD
rs1461014728373P>AgnomAD
rs2141971852373P>REnsembl
rs771211469374K>EExAC
TOPMed
gnomAD
COSV52147954375R>Kcosmic curated
rs779167204375R>SExAC
gnomAD
rs1352135066375R>TgnomAD
rs1396942798378N>IgnomAD
rs1334459450379S>CgnomAD
COSV52149800380D>*cosmic curated
rs1248523136380D>ETOPMed
rs1186087113380D>HgnomAD
COSV107273431381S>Ncosmic curated
rs774059320381S>TExAC
gnomAD
rs759179884382V>IExAC
TOPMed
gnomAD
rs967815207383P>SgnomAD
rs967815207383P>TgnomAD
COSV52151025384P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1567235459384P>SEnsembl
rs369202298387E>KESP
ExAC
TOPMed
gnomAD
rs369202298387E>QESP
ExAC
TOPMed
gnomAD
COSV104575645389I>Ncosmic curated
rs1281036439389I>VTOPMed
gnomAD
rs765108738390S>LExAC
TOPMed
gnomAD
rs1248791454392L>FgnomAD
rs747007916393E>KExAC
TOPMed
gnomAD
rs747007916393E>QExAC
TOPMed
gnomAD
COSV105100624394A>Gcosmic curated
COSV52150934
rs781691243
394A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs375493247395L>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs375493247395L>VVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs377648839396N>IESP
ExAC
gnomAD
rs377648839396N>SESP
ExAC
gnomAD
rs760154211397G>DExAC
gnomAD
rs1175527160398L>RTOPMed
COSV99274439399R>Lcosmic curated
COSV52154888
rs1301184346
399R>Qcosmic curated
gnomAD
COSV52150335
rs776765858
399R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs1330406029400A>VgnomAD
rs1375855652401V>FTOPMed
gnomAD
rs1375855652401V>ITOPMed
gnomAD
COSV52149639402S>Ccosmic curated
COSV52150320
rs1205621590
402S>Fcosmic curated
TOPMed
COSV52147972
rs765127125
403P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs2079184462404A>TEnsembl
rs2079184498404A>VTOPMed
rs1208421635405I>MTOPMed
gnomAD
rs2079184552405I>NTOPMed
gnomAD
rs2079184552405I>TTOPMed
gnomAD
rs2079184528405I>VTOPMed
gnomAD
rs1268971058406P>AgnomAD
COSV52152413406P>Scosmic curated
COSV99274472407S>*cosmic curated
COSV99273706
COSV99274472
rs766556602
407S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs368781016409P>LESP
ExAC
TOPMed
gnomAD
rs1312678411409P>TTOPMed
rs990631309410L>FTOPMed
gnomAD
rs990631309410L>VTOPMed
gnomAD
rs755083140411Y>DExAC
TOPMed
gnomAD
rs755083140411Y>HExAC
TOPMed
gnomAD
COSV99275091412E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs748671364413E>AExAC
TOPMed
gnomAD
COSV52151860413E>Qcosmic curated
rs748671364413E>VExAC
TOPMed
gnomAD
COSV52150394414I>Mcosmic curated
rs778141817415T>IExAC
TOPMed
gnomAD
rs1596316625415T>PEnsembl
rs778141817415T>SExAC
TOPMed
gnomAD
rs1458384985416Y>HgnomAD
rs1323231425417S>ATOPMed
gnomAD
rs749568005417S>LExAC
gnomAD
COSV52149209417S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1323231425417S>TTOPMed
gnomAD
rs200775202418G>AVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs200775202418G>DVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1303317417419I>LTOPMed
gnomAD
rs775047103419I>NExAC
gnomAD
rs1303317417419I>VTOPMed
gnomAD
rs768292858420S>*Variant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs768292858420S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
rs367993354421D>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2141976671421D>GEnsembl
rs761873418421D>HExAC
TOPMed
gnomAD
COSV52151953422G>Dcosmic curated
rs200303018422G>R1000Genomes
ExAC
TOPMed
gnomAD
rs200303018422G>S1000Genomes
ExAC
TOPMed
gnomAD
rs1212193279423L>MgnomAD
rs1212193279423L>VgnomAD
rs985103801424S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV99274809
rs752737830
425Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
dbSNP
rs752737830425Q>E1000Genomes
ExAC
rs371660308425Q>HESP
ExAC
TOPMed
gnomAD
rs756636262425Q>LExAC
gnomAD
rs756636262425Q>RExAC
gnomAD
rs754339979426A>VExAC
gnomAD
rs1162247260427S>CgnomAD
TCGA novel428C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs375064408429P>A1000Genomes
ESP
TOPMed
COSV105100505429P>Fcosmic curated
COSV52150566
rs2079186095
429P>Lcosmic curated
gnomAD
rs375064408429P>S1000Genomes
ESP
TOPMed
rs1367458058430L>FTOPMed
gnomAD
rs1367458058430L>VTOPMed
gnomAD
rs755361053431A>ETOPMed
gnomAD
rs746644216431A>SExAC
TOPMed
gnomAD
rs746644216431A>TExAC
TOPMed
gnomAD
rs755361053431A>VTOPMed
gnomAD
COSV52152959432A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52148381432A>Tcosmic curated
rs1381982983433I>VTOPMed
gnomAD
rs1352079898434D>AgnomAD
rs1352079898434D>GgnomAD
rs1308339200434D>NVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV52152891435H>Rcosmic curated
rs1312240877435H>YgnomAD
rs575952569436I>N1000Genomes
ExAC
TOPMed
gnomAD
rs575952569436I>T1000Genomes
ExAC
TOPMed
gnomAD
rs1231257679436I>VgnomAD
rs372204809437L>VESP
ExAC
TOPMed
gnomAD
COSV52153647438D>Ecosmic curated
rs767678287438D>HExAC
gnomAD
COSV99275096
rs767678287
438D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1254492018439S>IgnomAD
COSV52151149439S>Ncosmic curated
TCGA novel440S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2079186854440S>NgnomAD
rs760784736441R>C1000Genomes
ExAC
TOPMed
gnomAD
COSV52149140
rs764157399
441R>Hcosmic curated
ExAC
TOPMed
gnomAD
rs764157399441R>LExAC
TOPMed
gnomAD
rs1194330242442Q>RTOPMed
gnomAD
rs1255026517443K>TTOPMed
gnomAD
rs754311885444G>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs779175061444G>DVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs754311885444G>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1429090630445R>GgnomAD
rs1169134282445R>KTOPMed
gnomAD
rs1169134282445R>TTOPMed
gnomAD
rs758808663446P>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs750750096446P>SExAC
gnomAD
rs747794897447Q>HExAC
gnomAD
rs1415187236448S>GEnsembl
rs769483930448S>TExAC
TOPMed
gnomAD
COSV99274517
COSV106088891
449K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1398303735450A>PgnomAD
rs1364534177451P>TTOPMed
gnomAD
rs573242927452D>N1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel452D>T
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs573242927452D>Y1000Genomes
ExAC
TOPMed
gnomAD
rs745820631454T>IExAC
gnomAD
rs1228484950454T>PTOPMed
gnomAD
rs1228484950454T>STOPMed
gnomAD
rs779842959455L>PExAC
TOPMed
gnomAD
rs371114422456R>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV52153930
rs371114422
456R>QVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs200301873456R>W1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373213729458P>LESP
ExAC
TOPMed
gnomAD
COSV99273667
rs373213729
458P>Qcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs769929319458P>SExAC
gnomAD
COSV99274395459S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1411767909460S>CTOPMed
gnomAD
COSV104575594460S>Fcosmic curated
rs774977834461P>AExAC
gnomAD
rs759989890461P>LExAC
TOPMed
gnomAD
rs759989890461P>RExAC
TOPMed
gnomAD
COSV52150300461P>Scosmic curated
rs766433794463H>QExAC
TOPMed
gnomAD
rs1307747233463H>RgnomAD
rs2079219574463H>YTOPMed
rs1410122994464E>KTOPMed
gnomAD
COSV52155206
rs1596317969
465E>Kcosmic curated
TOPMed
COSV52149765
COSV99274830
466D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1353709603466D>NgnomAD
rs2079219789466D>VEnsembl
COSV52151543
rs1227200107
467E>Kcosmic curated
TOPMed
gnomAD
rs749883461468E>AExAC
gnomAD
rs1261910180468E>QTOPMed
rs1202783949469K>QgnomAD
rs2079220023469K>RTOPMed
gnomAD
rs780002446470L>VExAC
TOPMed
gnomAD
rs543055292471S>CExAC
TOPMed
gnomAD
COSV105100480471S>Fcosmic curated
COSV99074831
rs543055292
471S>Ycosmic curated
ExAC
TOPMed
gnomAD
rs748405058472E>KExAC
TOPMed
gnomAD
rs2079220356473D>NgnomAD
rs1022742105473D>VTOPMed
COSV52149711
rs367720160
474V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2079220527475D>GTOPMed
gnomAD
rs1002578311475D>YTOPMed
rs771103294476A>TExAC
TOPMed
gnomAD
rs759950236477P>AExAC
gnomAD
rs1338296668477P>LgnomAD
rs2079220823478P>HEnsembl
COSV52149039
rs138756308
478P>Scosmic curated
ExAC
TOPMed
gnomAD
rs138756308478P>TExAC
TOPMed
gnomAD
rs762512282479P>LExAC
TOPMed
gnomAD
rs762512282479P>QExAC
TOPMed
gnomAD
rs765557279479P>SExAC
TOPMed
gnomAD
rs765557279479P>TExAC
TOPMed
gnomAD
rs926929169480L>PgnomAD
rs926929169480L>RgnomAD
rs557117092480L>VExAC
TOPMed
gnomAD
rs374058293481G>AESP
ExAC
TOPMed
gnomAD
COSV52152922481G>Rcosmic curated
COSV52152941
rs372370813
483A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2141980160484E>GEnsembl
rs562584538484E>K1000Genomes
ExAC
TOPMed
gnomAD
rs562584538484E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs368814602485L>MESP
ExAC
TOPMed
gnomAD
rs779081314486A>DExAC
TOPMed
gnomAD
COSV99274963486A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99274212487L>Mcosmic curated
rs1195730629487L>PTOPMed
gnomAD
rs772407632488R>GExAC
TOPMed
gnomAD
COSV52148097
rs372306366
488R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV52148457
rs772407632
488R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs768999864489E>KExAC
gnomAD
rs772907432490S>GExAC
gnomAD
COSV52154677
rs762534468
492S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1407715198493P>AgnomAD
rs765876734493P>RExAC
gnomAD
rs1407715198
COSV52151456
493P>SgnomAD
cosmic curated
COSV52151553494E>Kcosmic curated
rs1242643047495S>GgnomAD
TCGA novel
rs1425578370
495S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs373606722495S>TESP
ExAC
TOPMed
gnomAD
rs1357594001496F>LgnomAD
rs761764935497I>KExAC
TOPMed
gnomAD
rs771456202497I>VEnsembl
COSV52151437499E>Kcosmic curated
rs763167820500E>DExAC
TOPMed
gnomAD
rs750620578500E>KExAC
TOPMed
gnomAD
rs766400763501V>IExAC
gnomAD
rs919971280502D>ETOPMed
gnomAD
rs774738232502D>HgnomAD
rs774738232502D>YgnomAD
rs2079229865503E>*TOPMed
gnomAD
rs2079229900503E>ATOPMed
gnomAD
COSV105100585503E>Kcosmic curated
COSV108055818503E>Vcosmic curated
rs61734739504S>*1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751588335504S>AExAC
gnomAD
rs61734739504S>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV105864402
rs756494425
505S>Lcosmic curated
ExAC
TOPMed
gnomAD
TCGA novel505S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs745766700506S>LEnsembl
rs371375348507P>AESP
ExAC
gnomAD
rs1373181526507P>QTOPMed
rs371375348507P>SESP
ExAC
gnomAD
rs2141981064508Q>KEnsembl
rs1428846220508Q>LgnomAD
rs1428846220508Q>PgnomAD
rs779736879509Q>LExAC
TOPMed
gnomAD
COSV99274985510G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1265765378510G>VTOPMed
gnomAD
rs1010733425511T>ITOPMed
gnomAD
rs1010733425511T>NTOPMed
gnomAD
rs1596319191511T>PEnsembl
COSV52149117
rs199984936
512R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs199984936512R>G1000Genomes
ExAC
TOPMed
gnomAD
rs372499842512R>LESP
ExAC
TOPMed
gnomAD
COSV52149668
rs372499842
512R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1269886880514A>VTOPMed
gnomAD
rs754636969516I>FExAC
TOPMed
gnomAD
rs754636969516I>LExAC
TOPMed
gnomAD
rs780871722516I>TVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs754636969516I>VExAC
TOPMed
gnomAD
rs755545957517E>AExAC
TOPMed
gnomAD
rs777834956517E>DExAC
gnomAD
rs747740375517E>KExAC
TOPMed
gnomAD
rs749170599518N>DExAC
TOPMed
gnomAD
rs770725695518N>IExAC
TOPMed
gnomAD
rs749170599518N>YExAC
TOPMed
gnomAD
rs2079246483520L>MEnsembl
rs775805573521Q>*Ensembl
COSV52148470521Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2141982795522D>GEnsembl
rs1302476598523S>GTOPMed
gnomAD
COSV52148395523S>Ncosmic curated
rs746124260524S>GExAC
TOPMed
gnomAD
rs1447085042524S>RTOPMed
gnomAD
rs1372006912524S>TgnomAD
rs2079246814525P>LTOPMed
COSV52154256
rs537387885
526E>Kcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel527H>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1158663971527H>LTOPMed
rs2079247061527H>QTOPMed
rs1008850017527H>YTOPMed
rs556955597528C>G1000Genomes
ExAC
TOPMed
gnomAD
rs556955597528C>R1000Genomes
ExAC
TOPMed
gnomAD
rs1596319262528C>WTOPMed
COSV52155095528C>Ycosmic curated
rs768602227529G>DExAC
gnomAD
rs376204675530R>*ESP
ExAC
TOPMed
gnomAD
COSV52154923
rs762339568
530R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs961945136532P>LTOPMed
gnomAD
rs765725146533P>LExAC
TOPMed
gnomAD
rs1470573086533P>SgnomAD
rs763387198534A>GExAC
gnomAD
rs750767327534A>PExAC
gnomAD
rs1164738429535D>ETOPMed
gnomAD
COSV52150949535D>Ycosmic curated
rs972314165536I>FTOPMed
gnomAD
rs767317059537Y>CExAC
TOPMed
gnomAD
rs1239551080537Y>HTOPMed
gnomAD
rs767317059537Y>SExAC
TOPMed
gnomAD
rs777091179538L>PExAC
TOPMed
gnomAD
TCGA novel540A>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA
TCGA novel541L>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA
COSV52153712542G>Vcosmic curated
rs778865472543P>SExAC
TOPMed
gnomAD
rs750360029544D>HExAC
TOPMed
gnomAD
COSV52149536
rs750360029
544D>Ncosmic curated
ExAC
TOPMed
gnomAD
rs901868895547S>CTOPMed
gnomAD
rs901868895547S>FTOPMed
gnomAD
rs901868895547S>YTOPMed
gnomAD
rs1430848012548V>FgnomAD
rs1157957045549G>RgnomAD
rs1157957045549G>SgnomAD
COSV52147857
rs974048165
549G>Vcosmic curated
TOPMed
gnomAD
rs2141989035550I>MEnsembl
COSV106088898
rs576156541
551D>Ecosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1405824309
TCGA novel
552E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
gnomAD
NCI-TCGA
rs201936360552E>KExAC
TOPMed
gnomAD
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