Q9HAI6 · TASL_HUMAN

  • Protein
    TLR adapter interacting with SLC15A4 on the lysosome
  • Gene
    TASL
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

130120406080100120140160180200220240260280300
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
TCGA novel4E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs11826442315G>ATOPMed
rs11826442315G>VTOPMed
rs19304006847L>VTOPMed
COSV66762668
rs1426847998
8S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
TCGA novel9G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV100973344
rs1391027079
11E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs20014132315D>GExAC
TOPMed
gnomAD
rs193040036616I>MEnsembl
rs75180911017H>NExAC
gnomAD
rs76495911019S>NExAC
gnomAD
rs142705999622S>FgnomAD
rs139073022622S>PTOPMed
rs143401725023Y>HEnsembl
rs193040002324N>HTOPMed
rs76156749824N>KExAC
TOPMed
gnomAD
rs193039979925E>DTOPMed
rs147041519925E>KgnomAD
TCGA novel26Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV10097321726Q>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77647888127V>MExAC
gnomAD
rs92675044028A>SEnsembl
rs144836160830E>GTOPMed
COSV6676321230E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs100229236431K>EEnsembl
rs18134453231K>N1000Genomes
ExAC
TOPMed
gnomAD
COSV66763448
rs1930399548
31K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs76168523132E>A1000Genomes
ExAC
TOPMed
gnomAD
rs76168523132E>V1000Genomes
ExAC
TOPMed
gnomAD
COSV100973345
COSV104430862
33E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77499937433E>DExAC
gnomAD
COSV100973345
COSV104430862
33E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs129560153134E>KTOPMed
rs120494981235T>ATOPMed
gnomAD
rs193039908335T>KEnsembl
rs123419470738V>ATOPMed
rs14138506038V>LESP
ExAC
TOPMed
gnomAD
rs133984196140T>ITOPMed
gnomAD
rs104643965541L>ITOPMed
COSV6676262442S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs100953582243Y>CTOPMed
gnomAD
rs193039845845S>CEnsembl
rs77412542347D>EExAC
gnomAD
rs77074557752R>KExAC
TOPMed
gnomAD
rs138373139254L>FgnomAD
rs76816086056V>M1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel58C>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV10097320658C>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs214708245260S>*Ensembl
TCGA novel60S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75658226862G>AExAC
gnomAD
rs74860411464F>LExAC
gnomAD
rs124872080665I>FTOPMed
gnomAD
COSV100973348
rs1930397427
66S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
gnomAD
rs136106698369H>LgnomAD
rs140997100570S>LgnomAD
rs115652065471R>KTOPMed
gnomAD
rs115652065471R>TTOPMed
gnomAD
rs138541639372E>DTOPMed
gnomAD
rs143870494272E>GgnomAD
rs37378097873S>RESP
ExAC
TOPMed
gnomAD
TCGA novel74Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
RCV001795793
rs150122685
75H>NLikely benign (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs156930407075H>REnsembl
TCGA novel76S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV10097329177R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV6676340780R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs75168238981V>LExAC
gnomAD
rs14076453982T>KESP
ExAC
TOPMed
gnomAD
rs75357661383V>AExAC
gnomAD
TCGA novel85Q>R
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV100973270
COSV66763402
86T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973270
COSV66763402
86T>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs121628516588P>STOPMed
gnomAD
rs121628516588P>TTOPMed
gnomAD
rs136048073589N>SgnomAD
TCGA novel90P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75260169291V>AExAC
TOPMed
gnomAD
rs76271396291V>L1000Genomes
ExAC
TOPMed
gnomAD
rs767540673
COSV100973286
92F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
rs193039519294S>REnsembl
rs95039315096N>DgnomAD
rs193039488797L>FgnomAD
rs75893755297L>VExAC
TOPMed
gnomAD
TCGA novel98A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1930394643100V>GTOPMed
rs1315983601103C>RgnomAD
COSV66762548104R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs770694258105D>GExAC
gnomAD
COSV66762434105D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1569304043106A>GTOPMed
rs1569304043106A>VTOPMed
rs762706999107S>NExAC
gnomAD
rs773641205108R>KExAC
gnomAD
TCGA novel
rs1930393611
109E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs770082070109E>GExAC
TOPMed
gnomAD
rs748637871110T>SExAC
gnomAD
COSV100973202114P>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1930393160115S>TEnsembl
COSV66763115116S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1930392983117C>RgnomAD
TCGA novel119S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs150949392121C>FESP
ExAC
TOPMed
gnomAD
COSV100973277121C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV66762593
COSV66762618
122K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel126D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs747080551127L>*ExAC
gnomAD
COSV100973332127L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs780124541130A>VExAC
gnomAD
rs1930392505132G>DTOPMed
gnomAD
COSV66762738136A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973378
COSV100973382
139S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973378
COSV100973382
139S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs753582096143D>EEnsembl
TCGA novel143D>F
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV66763157143D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV66762639145P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1034307445146S>PgnomAD
COSV100973343
COSV66762344
COSV66762529
146S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV66763241148S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973321148S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs200439691150F>YExAC
gnomAD
COSV100973215151E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1364025315151E>DgnomAD
rs1930391455152Y>CEnsembl
COSV66762798153G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs746308301157K>N1000Genomes
COSV66762407159S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2147082354159S>YEnsembl
rs142517470162P>HESP
ExAC
TOPMed
gnomAD
rs140211928164P>SESP
ExAC
TOPMed
gnomAD
rs140211928164P>TESP
ExAC
TOPMed
gnomAD
COSV100973289165M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs918003569165M>TTOPMed
gnomAD
rs1478280088166E>DTOPMed
rs1196592880167D>GgnomAD
COSV66762663168S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs772758905171T>IExAC
TOPMed
gnomAD
rs772758905171T>NExAC
TOPMed
gnomAD
rs2147082338172Q>HEnsembl
COSV100973276172Q>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1930390229173P>LEnsembl
rs992612456175D>ETOPMed
gnomAD
COSV100973298
rs369573227
177P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1420545183181I>FTOPMed
rs762083306181I>SExAC
TOPMed
gnomAD
rs1420545183181I>VTOPMed
rs777114441183R>QExAC
TOPMed
gnomAD
TCGA novel
rs1930389665
183R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
COSV100973323184Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel186S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs747522617187Y>CExAC
TOPMed
gnomAD
rs747522617187Y>FExAC
TOPMed
gnomAD
rs868775173188W>CEnsembl
COSV66763378189R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2033363332189R>KTOPMed
rs1282574812191T>AgnomAD
rs950582378195E>DTOPMed
gnomAD
COSV66762713195E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel198S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1197636385201M>TgnomAD
rs780069492202Q>EExAC
TOPMed
gnomAD
TCGA novel202Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs772162280202Q>LExAC
gnomAD
COSV100973370202Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1206851677203N>DgnomAD
COSV66762397204P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs745999065205I>VExAC
gnomAD
COSV66762505206S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2147082292209V>DEnsembl
rs1930387945214L>PEnsembl
COSV100973278216Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1334355121218V>LTOPMed
rs1930387749219V>LTOPMed
rs1384826387220E>KgnomAD
TCGA novel223K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel223K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs963341018224Q>ETOPMed
gnomAD
COSV66762734226I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973233227M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV66763291228D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs751575628230V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel232H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV66762732233D>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs111847753233D>GgnomAD
COSV100973246
COSV66762760
233D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV66762472
COSV66763043
236P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973220237T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973237241A>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973237241A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs749987055242S>PExAC
gnomAD
COSV100973340243E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs374413778245I>VESP
ExAC
TOPMed
gnomAD
rs776798262249V>IExAC
TOPMed
gnomAD
TCGA novel250D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs764476691251Q>KExAC
gnomAD
COSV66762543255Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1461739313256V>ATOPMed
gnomAD
TCGA novel256V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV100973353258R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973258259E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973325260K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs370176469261N>KESP
ExAC
TOPMed
gnomAD
COSV100973329263E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1230950206264T>SgnomAD
COSV100973355265S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973355265S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1930386198265S>PTOPMed
gnomAD
rs1930386130266K>ETOPMed
gnomAD
COSV66763036267A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel268R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel268R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1930386065269D>VEnsembl
COSV66763228269D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1930386002272F>SEnsembl
rs745933194273S>NExAC
gnomAD
COSV66762899
rs149817919
274R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ESP
TOPMed
dbSNP
gnomAD
COSV66763147276L>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100973368278L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel279M>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1353222611279M>VTOPMed
rs1051544175281T>PTOPMed
COSV100973338282E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1330115492283I>VgnomAD
rs2147082220285E>GEnsembl
rs747370788286I>S1000Genomes
ExAC
gnomAD
COSV66763011290S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1286069579296Y>*TOPMed
gnomAD
rs770999789296Y>CExAC
gnomAD
rs770999789296Y>FExAC
gnomAD
COSV66762726297S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs929032324298N>HEnsembl
rs749530592300N>SExAC
TOPMed
gnomAD
COSV66762826301P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV66763337301P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs780809127302*>WExAC
gnomAD
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