Q9UGM5 · FETUB_HUMAN

  • Protein
    Fetuin-B
  • Gene
    FETUB
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

138250100150200250300350100200300

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV540065481M>?cosmic curated
rs17169380232G>DgnomAD
COSV540054422G>Scosmic curated
rs7777345323L>MExAC
gnomAD
rs7493449924L>FExAC
gnomAD
rs7710591336P>AExAC
gnomAD
COSV1043697776P>Hcosmic curated
rs7746532686P>LExAC
TOPMed
gnomAD
rs7746532686P>RExAC
TOPMed
gnomAD
rs9107332987L>PTOPMed
gnomAD
rs3744229617L>VESP
ExAC
TOPMed
gnomAD
rs7725608578A>SExAC
gnomAD
rs9424299638A>VTOPMed
gnomAD
COSV99409127
rs1716941738
9L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs9649339959L>PTOPMed
COSV5400583510C>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5400668710C>Fcosmic curated
COSV5400485711I>Mcosmic curated
rs20021488511I>N1000Genomes
gnomAD
rs20021488511I>T1000Genomes
gnomAD
rs126690065012L>PgnomAD
rs171694318913V>IEnsembl
rs76461444115C>YExAC
TOPMed
gnomAD
rs171694404216C>RTOPMed
RCV000956161
rs112267492
16C>WBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs36831605416C>YESP
ExAC
TOPMed
gnomAD
COSV54005717
rs148037844
17G>RVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs171694534717G>VTOPMed
rs171694575819M>IEnsembl
rs171694556419M>VEnsembl
rs77979583120S>PExAC
rs92962148021P>LEnsembl
COSV5400533321P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs52731826522P>HVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs171694765423Q>*Ensembl
rs74933788723Q>HExAC
gnomAD
rs136318423624L>PgnomAD
rs136318423624L>QgnomAD
rs77111749625A>TExAC
TOPMed
gnomAD
rs77934325425A>VExAC
gnomAD
rs74605683828P>AExAC
TOPMed
gnomAD
COSV10500077528P>Lcosmic curated
rs74605683828P>SExAC
TOPMed
gnomAD
rs77261208129S>LExAC
TOPMed
gnomAD
rs77261208129S>WExAC
TOPMed
gnomAD
COSV9940915330A>Gcosmic curated
rs76904801430A>SExAC
gnomAD
rs76904801430A>TExAC
gnomAD
COSV5400554431L>Pcosmic curated
rs94127237131L>QTOPMed
rs37180976532L>FESP
ExAC
TOPMed
gnomAD
COSV5400518733S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
VAR_049061
rs34522046
33S>PUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs77289496934R>PExAC
TOPMed
gnomAD
COSV54005027
rs772894969
34R>Qcosmic curated
ExAC
TOPMed
gnomAD
rs76472722934R>WExAC
TOPMed
gnomAD
rs76257472635G>DExAC
TOPMed
gnomAD
rs100340906635G>REnsembl
COSV9940919235G>Scosmic curated
rs76257472635G>VExAC
TOPMed
gnomAD
COSV5400601736C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs20178953637N>IVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs20178953637N>SVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs37614815840D>EESP
gnomAD
COSV5400637440D>Hcosmic curated
COSV54006374
rs754740084
40D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs156001900141V>AEnsembl
rs75267576742L>PExAC
gnomAD
rs77911204344V>GExAC
gnomAD
rs75745318244V>IExAC
gnomAD
rs131336007748A>DTOPMed
gnomAD
COSV54004842
rs1313360077
48A>Vcosmic curated
TOPMed
gnomAD
COSV5400499049L>Mcosmic curated
rs138237606149L>PgnomAD
COSV54006750
rs780257727
50R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV54005672
rs758726643
50R>Wcosmic curated
ExAC
gnomAD
rs139757973152I>VTOPMed
gnomAD
rs171695987653N>KTOPMed
rs77707484754K>NExAC
gnomAD
rs76905171354K>RExAC
TOPMed
gnomAD
rs14392481355D>GESP
ExAC
TOPMed
gnomAD
COSV54005287
rs1716960721
55D>Hcosmic curated
TOPMed
COSV5400528755D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs56931651656R>G1000Genomes
ExAC
gnomAD
TCGA novel56R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs14579646157K>MESP
ExAC
TOPMed
gnomAD
COSV5400708157K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs14579646157K>RESP
ExAC
TOPMed
gnomAD
COSV5400718158D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel59G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77403671759G>SExAC
TOPMed
gnomAD
rs171696291060Y>CTOPMed
gnomAD
rs93828912860Y>NTOPMed
rs104739010361V>MEnsembl
COSV9940887263R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs171696404564L>FTOPMed
rs140174122465N>KTOPMed
gnomAD
COSV54005091
rs367977932
66R>*cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV9940898966R>Gcosmic curated
rs14898357666R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs14898357666R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs132107021867V>AgnomAD
COSV9940919768N>Icosmic curated
rs75614184268N>KExAC
TOPMed
gnomAD
rs78019988669D>EExAC
TOPMed
gnomAD
rs19020476869D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs14691339869D>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs37037910570A>DExAC
gnomAD
rs20019662170A>TTOPMed
gnomAD
COSV105000802
rs370379105
70A>Vcosmic curated
ExAC
gnomAD
TCGA novel
rs2108514255
72E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs156001920973Y>HEnsembl
rs131858002074R>GgnomAD
COSV54006098
rs773072487
75R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV5400609875R>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77307248775R>QExAC
TOPMed
gnomAD
COSV54006758
rs182506996
75R>Wcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs76503812776G>ALikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs76179252176G>CExAC
TOPMed
gnomAD
rs76503812776G>DLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs128620741677G>SgnomAD
rs103901132179G>RTOPMed
rs1219695505
COSV54006657
82F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
gnomAD
NCI-TCGA Cosmic
cosmic curated
rs90206764683Y>CgnomAD
rs156001964784L>FEnsembl
rs156001964784L>VEnsembl
rs119338724385T>IgnomAD
rs75947359187D>GExAC
TOPMed
gnomAD
rs210851537587D>HEnsembl
COSV9940901288V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76778075188V>MExAC
gnomAD
rs75290949889L>QExAC
gnomAD
rs56717783590E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs75415121191T>AExAC
TOPMed
gnomAD
rs210851542893C>REnsembl
rs75781277493C>YExAC
gnomAD
rs74539701694H>QExAC
TOPMed
gnomAD
rs171701503194H>RTOPMed
TCGA novel95V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs171701580497R>*TOPMed
rs171701603297R>KEnsembl
rs75783436797R>SExAC
gnomAD
rs171701603297R>TEnsembl
rs77992107299K>EVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV107302669
rs1560019746
100A>Tcosmic curated
gnomAD
COSV99408840
rs768623497
COSV99408843
COSV99408990
101W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV99408843
COSV99408990
101W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs201001948101W>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776592798102Q>RExAC
gnomAD
rs373009962105G>EVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs747861362105G>RExAC
TOPMed
gnomAD
rs1250055555106M>ITOPMed
gnomAD
rs773005796107R>KExAC
TOPMed
gnomAD
rs773005796107R>TExAC
TOPMed
gnomAD
COSV104593800108I>Tcosmic curated
rs759724113109F>LExAC
TOPMed
gnomAD
rs759724113109F>VExAC
TOPMed
gnomAD
rs767551560110F>SExAC
gnomAD
rs2108515615111E>KEnsembl
rs1579032682111E>VEnsembl
rs760907306112S>LExAC
rs775735266112S>PExAC
gnomAD
rs879063810113V>DEnsembl
rs1175085598113V>IgnomAD
rs1717146608114Y>*gnomAD
rs1359435479114Y>CgnomAD
COSV99408938116Q>*cosmic curated
COSV99408938
COSV99409147
116Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105000770116Q>Hcosmic curated
rs1241901633117C>YTOPMed
gnomAD
rs996517120118K>EEnsembl
rs775576005119A>SExAC
gnomAD
COSV99408856119A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs760680484119A>VExAC
TOPMed
gnomAD
COSV104593809120I>Tcosmic curated
rs368129449120I>VESP
gnomAD
rs930715187122Y>CTOPMed
rs184142108122Y>H1000Genomes
ExAC
gnomAD
rs371628207123M>RESP
ExAC
TOPMed
gnomAD
rs371628207123M>TESP
ExAC
TOPMed
gnomAD
rs1717149675124N>KEnsembl
rs146420299125N>DESP
ExAC
TOPMed
gnomAD
COSV54006091125N>Icosmic curated
COSV54006903
rs1717150242
125N>Scosmic curated
TOPMed
COSV106090944
rs1717150933
126P>Lcosmic curated
Ensembl
rs1219069418126P>SgnomAD
rs1219069418126P>TgnomAD
rs1279758463127S>NTOPMed
gnomAD
rs77346508128R>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV54004808
COSV99408995
128R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54004808128R>Kcosmic curated
COSV54005358
rs1262593996
129V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1717152465129V>LEnsembl
rs766955275130L>FExAC
TOPMed
gnomAD
rs766955275130L>IExAC
TOPMed
gnomAD
rs1265332034130L>PgnomAD
rs754483854131Y>CExAC
TOPMed
gnomAD
rs375966035131Y>HESP
ExAC
gnomAD
rs1342035611133A>TTOPMed
gnomAD
rs1717155233133A>VTOPMed
COSV99034935134A>Pcosmic curated
rs1717155560134A>STOPMed
rs1579036306134A>VVariant of uncertain significance (Ensembl)Ensembl
rs1717156499135Y>*gnomAD
rs780961033135Y>CExAC
gnomAD
rs780961033135Y>FExAC
gnomAD
rs1300900401136N>KTOPMed
rs1415848044137C>RgnomAD
rs755984506138T>IExAC
gnomAD
rs755984506138T>NExAC
gnomAD
COSV99409137
rs1419854189
139L>Icosmic curated
gnomAD
COSV54005535
COSV99409137
139L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99409194
rs777448278
140R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV54006677
rs141401279
140R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1436353777141P>SgnomAD
COSV54005709144K>Icosmic curated
rs1717352230144K>TEnsembl
rs757032153145K>TExAC
gnomAD
COSV99409206
rs918883210
146K>*cosmic curated
TOPMed
gnomAD
rs778889689146K>NExAC
gnomAD
rs1579041220147I>NEnsembl
COSV106090938147I>Tcosmic curated
COSV54005603147I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs745773631148Y>CExAC
gnomAD
COSV54005210148Y>Fcosmic curated
rs188313975149M>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1282528899149M>RgnomAD
rs1282528899149M>TgnomAD
rs188313975149M>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV54006855
rs541290079
150T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1290592828151C>*TOPMed
gnomAD
rs769915545152P>TExAC
TOPMed
gnomAD
rs1242294776156S>NEnsembl
COSV54006266156S>Rcosmic curated
COSV106374949157S>Fcosmic curated
rs773429917159P>LExAC
gnomAD
rs1439954804162S>PgnomAD
rs1717358793162S>YTOPMed
gnomAD
rs2108526322163S>FEnsembl
rs79613655163S>PEnsembl
rs948491606164N>KgnomAD
rs1180074039164N>STOPMed
gnomAD
COSV107302535165H>Lcosmic curated
COSV106374909165H>Ncosmic curated
COSV54005196165H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99034933
rs1717360097
165H>Rcosmic curated
TOPMed
TCGA novel166Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV54005012166Q>Hcosmic curated
rs763473292166Q>KExAC
gnomAD
rs1717361174167V>GTOPMed
gnomAD
rs1472138378167V>LTOPMed
gnomAD
rs79103998168L>PTOPMed
gnomAD
rs1717362098169E>KTOPMed
COSV54005428170A>Scosmic curated
rs775043391170A>VExAC
TOPMed
gnomAD
rs1331140462171A>TgnomAD
COSV54005803171A>Vcosmic curated
rs267599723172T>IEnsembl
COSV54006628172T>Ncosmic curated
rs1717363643172T>PEnsembl
COSV99408912
rs199634697
173E>*Variant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs760171993173E>DExAC
gnomAD
rs752152102173E>GExAC
gnomAD
rs199634697173E>KVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
COSV99409023174S>Ccosmic curated
rs753484336175L>PExAC
gnomAD
rs149523201176A>EESP
ExAC
TOPMed
gnomAD
COSV54004743176A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54004743
COSV54005898
rs149523201
176A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV99408905178Y>Ccosmic curated
rs541856731180N>S1000Genomes
ExAC
gnomAD
COSV54004551183T>Icosmic curated
COSV54005277184S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs778177725184S>PExAC
gnomAD
TCGA novel186Q>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1424799394186Q>LgnomAD
rs1717371298187Y>*Ensembl
COSV54006709188S>Ccosmic curated
rs540816433189L>F1000Genomes
ExAC
TOPMed
gnomAD
rs540816433189L>V1000Genomes
ExAC
TOPMed
gnomAD
COSV54006010190F>Icosmic curated
COSV54007022191K>Ecosmic curated
rs1292692552191K>RTOPMed
gnomAD
rs1031546008192V>AgnomAD
COSV54007400193T>Icosmic curated
COSV54005001
rs1717373615
195A>Tcosmic curated
TOPMed
rs2108526755195A>V1000Genomes
COSV54005762196S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs774885834196S>YExAC
gnomAD
rs1717374200197S>GEnsembl
COSV54005886
rs2108531519
199W>*cosmic curated
Ensembl
rs776150518199W>GExAC
TOPMed
gnomAD
COSV99409203
rs776150518
199W>Rcosmic curated
ExAC
TOPMed
gnomAD
rs1487155193200V>MgnomAD
rs2108531566201V>FEnsembl
TCGA novel202G>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
VAR_024449
COSV107302534
rs6785067
202G>SUniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1717528648203P>LTOPMed
rs139111101203P>SESP
ExAC
TOPMed
gnomAD
rs139111101203P>TESP
ExAC
TOPMed
gnomAD
COSV105000801
rs1717529582
204S>Fcosmic curated
TOPMed
rs1234055981205Y>HTOPMed
rs1717531103207V>ATOPMed
rs751259988207V>MExAC
gnomAD
rs1717532838208E>DEnsembl
rs1293457641208E>GTOPMed
gnomAD
rs376462332208E>KESP
TOPMed
gnomAD
COSV99408828
rs759546734
209Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs759546734209Y>FExAC
TOPMed
gnomAD
rs1389753216210L>FgnomAD
COSV99408951211I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1436993236211I>VgnomAD
rs189137781212K>Q1000Genomes
ExAC
TOPMed
gnomAD
COSV54004883213E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54005119214S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1717535630214S>PEnsembl
COSV99409134215P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1324809982215P>TTOPMed
TCGA novel216C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs139353499216C>GESP
ExAC
TOPMed
gnomAD
rs139353499216C>RESP
ExAC
TOPMed
gnomAD
COSV99408845216C>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs964140776216C>YEnsembl
rs371042019217T>AESP
ExAC
TOPMed
gnomAD
rs371042019217T>SESP
ExAC
TOPMed
gnomAD
COSV54007235219S>Acosmic curated
COSV54006328
rs1167682354
219S>Fcosmic curated
TOPMed
gnomAD
rs1167682354219S>YTOPMed
gnomAD
rs1243263075220Q>LTOPMed
gnomAD
rs1243263075220Q>PTOPMed
gnomAD
rs1489084102224C>STOPMed
gnomAD
COSV54005776
rs1717540680
225S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1452965719226L>FTOPMed
rs1214574887229S>FTOPMed
rs1203906061230D>GTOPMed
gnomAD
rs529475246230D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV54006256
rs1717543279
231S>Tcosmic curated
Ensembl
rs892839203232V>ATOPMed
gnomAD
rs1717543623232V>LgnomAD
rs1717543623232V>MgnomAD
COSV54005465233P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel234V>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs780075240235G>CExAC
gnomAD
rs780075240235G>SExAC
gnomAD
rs1718006169236L>VEnsembl
rs1169349944239G>CTOPMed
COSV108077483239G>Dcosmic curated
rs770529330239G>VExAC
TOPMed
gnomAD
rs777819865241L>PEnsembl
COSV54005248241L>Vcosmic curated
rs755325828243R>*ExAC
TOPMed
gnomAD
rs143617617243R>PBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV54004720
RCV000883167
rs143617617
243R>QBenign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770232891244T>IExAC
TOPMed
gnomAD
rs777369711246W>*ExAC
TOPMed
gnomAD
rs777369711246W>CExAC
TOPMed
gnomAD
COSV105872812246W>Lcosmic curated
COSV99408982246W>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs748675931247E>GExAC
gnomAD
COSV54005512
rs1718009339
247E>Kcosmic curated
TOPMed
rs770628254248K>NExAC
gnomAD
COSV104369775249F>Ccosmic curated
rs1718010599249F>ITOPMed
rs1480334981250V>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV99408952250V>Icosmic curated
COSV105000771251S>Fcosmic curated
rs1718011201251S>PTOPMed
rs145235667252V>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145235667252V>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1053477191252V>LEnsembl
rs1436286705253T>ITOPMed
gnomAD
rs1249998967254C>GTOPMed
rs771961392254C>SExAC
TOPMed
gnomAD
rs771961392254C>YExAC
TOPMed
gnomAD
rs1301783778255D>NgnomAD
rs1379196808257F>VTOPMed
gnomAD
COSV99408954258E>*cosmic curated
COSV54007635
rs776422401
262P>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV99408997
rs370905116
263A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ESP
dbSNP
gnomAD
rs1389469906263A>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs370905116263A>VESP
gnomAD
rs763130941264T>AExAC
gnomAD
COSV104593790265G>Ecosmic curated
rs766361957269S>AExAC
gnomAD
rs1216343871269S>CgnomAD
COSV105000777269S>Fcosmic curated
COSV54006958272N>Kcosmic curated
rs774610557272N>YExAC
TOPMed
gnomAD
rs1718113449273Q>ETOPMed
COSV104593795273Q>Kcosmic curated
rs759762671273Q>LExAC
gnomAD
rs185183707276T>I1000Genomes
ExAC
TOPMed
gnomAD
COSV54006731
rs185183707
276T>Kcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1288349395277N>IgnomAD
rs1395363685278L>IgnomAD
rs753085487279P>RExAC
gnomAD
rs1718115500279P>SgnomAD
rs1426219482280K>EEnsembl
rs1156339450280K>MgnomAD
rs756414944
TCGA novel
280K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1156339450280K>RgnomAD
rs1401810341281V>AgnomAD
rs1401810341281V>GgnomAD
COSV105000806
rs754297554
282E>Kcosmic curated
ExAC
gnomAD
COSV54005619
COSV99408917
rs1436286399
283E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV54005619
rs1436286399
283E>Kcosmic curated
TOPMed
gnomAD
TCGA novel285Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1326971523286Q>*gnomAD
rs1211739058287K>RTOPMed
rs540157028289T>IExAC
TOPMed
gnomAD
rs540157028289T>NExAC
TOPMed
gnomAD
rs1579058616289T>PEnsembl
rs540157028289T>SExAC
TOPMed
gnomAD
COSV54007057290P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs142401278291P>AVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1286339148291P>LgnomAD
rs142401278291P>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142401278291P>TVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1449781221292T>KgnomAD
COSV54004660293D>Hcosmic curated
COSV54004660
COSV54006777
293D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs902979028294S>FTOPMed
gnomAD
COSV54004768
COSV99408873
294S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54004768294S>Tcosmic curated
rs902979028294S>YTOPMed
gnomAD
COSV54006159
rs1220613881
295P>Hcosmic curated
TOPMed
gnomAD
rs1220613881295P>LTOPMed
gnomAD
rs779802500296S>AExAC
TOPMed
gnomAD
COSV54007353296S>Pcosmic curated
rs779802500296S>TExAC
TOPMed
gnomAD
COSV54004675297K>Ncosmic curated
COSV54004667297K>Qcosmic curated
COSV54004685298A>Pcosmic curated
COSV54006818299G>Acosmic curated
COSV54004789299G>Rcosmic curated
rs375303300300P>QESP
ExAC
TOPMed
gnomAD
rs375303300300P>RESP
ExAC
TOPMed
gnomAD
COSV54004694300P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs768301989301R>GExAC
gnomAD
rs776694967301R>KExAC
gnomAD
COSV54007094302G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54004890
COSV99409130
302G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54004890
COSV99409130
302G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54006457303S>Ccosmic curated
rs2108552430303S>FEnsembl
rs2108552416303S>TEnsembl
rs2108552430303S>YEnsembl
rs1327027325304V>AgnomAD
rs1718129278305Q>ETOPMed
COSV54006243305Q>Rcosmic curated
rs1397075352307L>IgnomAD
TCGA novel
rs1718130188
308P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
COSV54007248308P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1718130675309D>EgnomAD
rs1718130384309D>NgnomAD
COSV54004831311D>Ncosmic curated
rs1560029351312D>GEnsembl
rs774449728312D>NExAC
gnomAD
TCGA novel313K>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1171083382313K>NgnomAD
rs772332220314N>DExAC
gnomAD
TCGA novel314N>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV54005699
COSV54005865
315S>Fcosmic curated
COSV105000772317E>Kcosmic curated
COSV54005175318K>Rcosmic curated
TCGA novel318K>R
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs969375033319G>CTOPMed
gnomAD
rs1437960542319G>DTOPMed
rs1227626236320P>LgnomAD
COSV54007041320P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1336590399322E>DgnomAD
rs1464216101322E>GTOPMed
gnomAD
rs1273596032322E>KgnomAD
rs1464216101322E>VTOPMed
gnomAD
rs775661593323A>DExAC
TOPMed
gnomAD
rs775661593323A>GExAC
TOPMed
gnomAD
COSV54006167325P>Lcosmic curated
rs761169523328L>PExAC
TOPMed
gnomAD
rs764353523329D>GExAC
gnomAD
rs2108552715330L>IEnsembl
rs371737311331T>IESP
TOPMed
gnomAD
TCGA novel332T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs374722004332T>MVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs762230781333N>KExAC
gnomAD
COSV105000809334P>Lcosmic curated
COSV105000805334P>Scosmic curated
rs143600252335Q>EESP
ExAC
TOPMed
gnomAD
COSV99409031335Q>Hcosmic curated
COSV54005683336G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104593793336G>Kcosmic curated
rs757958591
COSV54005394
336G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
NCI-TCGA Cosmic
cosmic curated
COSV54005383
COSV54006487
337E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54005383
COSV54006487
337E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs999869267338T>NTOPMed
COSV54007363338T>Pcosmic curated
rs1170391527339L>RgnomAD
rs551865573340D>AExAC
TOPMed
gnomAD
rs551865573340D>GExAC
TOPMed
gnomAD
COSV104593808340D>Ncosmic curated
rs1718140988340D>YTOPMed
COSV54006398341I>Ncosmic curated
COSV105000778342S>Fcosmic curated
rs1446799495342S>YTOPMed
gnomAD
rs148071644344L>FESP
ExAC
TOPMed
gnomAD
rs148071644344L>VESP
ExAC
TOPMed
gnomAD
TCGA novel345F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV108077489347E>Dcosmic curated
rs1718143568348P>LEnsembl
rs140821787348P>SESP
ExAC
TOPMed
gnomAD
rs140821787348P>TESP
ExAC
TOPMed
gnomAD
rs1718144484349M>TTOPMed
rs1175825564349M>VEnsembl
COSV99408895352K>Ncosmic curated
TCGA novel353L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs745990842354V>MExAC
gnomAD
rs1579059181355V>GEnsembl
rs768857199357P>LExAC
TOPMed
gnomAD
COSV104593791
rs1718148566
357P>Scosmic curated
Ensembl
rs1718149236358F>VTOPMed
rs934455550359P>LTOPMed
gnomAD
VAR_049062
rs7999
360K>RUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV54007198360K>Tcosmic curated
COSV105000807361E>Kcosmic curated
rs1240284661361E>QTOPMed
gnomAD
rs1718152047362K>NTOPMed
rs1170972360363A>PgnomAD
rs1170972360363A>SgnomAD
COSV54005819
rs765892584
364R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs765892584364R>GExAC
TOPMed
gnomAD
COSV54004568
rs748755333
364R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs765892584364R>SExAC
TOPMed
gnomAD
COSV99408864366A>Dcosmic curated
rs765970377368C>WExAC
TOPMed
gnomAD
rs980755621369P>LTOPMed
gnomAD
rs1579059328371P>ATOPMed
COSV54004944371P>Scosmic curated
rs1229157154373Q>HTOPMed
gnomAD
COSV54005658374N>Tcosmic curated
rs754587475375A>DExAC
TOPMed
gnomAD
TCGA novel375A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV54005413
rs754587475
375A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1718156953376S>TEnsembl
COSV99409112377P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99408974378L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs116030393379V>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2108553461379V>IEnsembl
rs1718158495380L>FEnsembl
COSV54006970
rs552370206
381P>Lcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV54005322381P>Qcosmic curated
rs1718158818381P>STOPMed
rs2108553560382P>LEnsembl
COSV54005475382P>Rcosmic curated
COSV54005168
rs749212042
383*>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
rs1718160260383*>GTOPMed
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