{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365782264", "communityStandardTitle": [ "NM_001270508.2(TNFAIP3):c.425G>A (p.Trp142Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=35903", "active": true, "id": "COSM35903" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2742761[alleleid]", "alleleId": 2742761, "preferredName": "NM_001270508.2(TNFAIP3):c.425G>A (p.Trp142Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2577872", "RCV": [ "RCV003325259" ], "variationId": 2577872 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.138196111G>A?assembly=hg19", "id": "chr6:g.138196111G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.137874974G>A?assembly=hg38", "id": "chr6:g.137874974G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2482727350", "rs": 2482727350 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 137874974, "referenceAllele": "G", "start": 137874973 } ], "hgvs": [ "NC_000006.12:g.137874974G>A", "CM000668.2:g.137874974G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 138196111, "referenceAllele": "G", "start": 138196110 } ], "hgvs": [ "NC_000006.11:g.138196111G>A", "CM000668.1:g.138196111G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 138237804, "referenceAllele": "G", "start": 138237803 } ], "hgvs": [ "NC_000006.10:g.138237804G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 12531, "referenceAllele": "G", "start": 12530 } ], "hgvs": [ "NG_032761.1:g.12531G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000420009.6:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000401562.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000401562.2:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914035" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000711061.1:c.*148G>A" ], "proteinEffect": { "hgvs": "ENSP00000518561.1:n.*148G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914581" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000421450.2:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000393577.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000393577.2:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904763" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "G", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000433680.2:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000409845.2:p.Trp142Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS904854" }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "G", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.2:n.234G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905325" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698329.1:n.614G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909317" }, { "coordinates": [ { "allele": "A", "end": 295, "endIntronDirection": "+", "endIntronOffset": 3452, "referenceAllele": "G", "start": 295, "startIntronDirection": "+", "startIntronOffset": 3451 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698330.1:n.295+3452G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909318" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.5:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Trp142Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761897", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.425G>A" }, "RefSeq": { "hgvs": "NM_001270508.2:c.425G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Trp142Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Trp142Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000237289.8:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000237289.4:p.Trp142Ter", "hgvsWellDefined": "ENSP00000237289.4:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248998" }, { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000420009.5:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000401562.1:p.Trp142Ter", "hgvsWellDefined": "ENSP00000401562.1:p.Trp142_Arg162del" }, "referenceSequence": "http://reg.genome.network/refseq/RS286131" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.4:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Trp142Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401513" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000614035.4:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000481122.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000481122.2:p.Trp142_Gln470delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlySerPheGlyProThrAspSerThrGlnProPheSerValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401998" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000615468.4:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000479556.1:p.Trp142Ter", "hgvsWellDefined": "ENSP00000479556.1:p.Trp142_Cys214delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysTrpLeuProGlnThrHisProTrpProGluValAspPheSerThrThrHisTrpLysLysTyrThrTyrLeuSerPheAlaThrSerSerGluGlyGlnSerLeuSerPheGlnThrLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402631" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000619035.4:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000478438.1:p.Trp142Ter", "hgvsWellDefined": "ENSP00000478438.1:p.Trp142_Gly749delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404194" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000620204.3:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000481454.1:p.Trp142Ter", "hgvsWellDefined": "ENSP00000481454.1:p.Trp142_Val669delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuPheHisArgValGlnArgLysGlnThrPheCysCysCysLeuArgGluSerGlnSerHisSerValGlnValProGluHisHisSerValProGlyGluGlyMetArgHisProTrpLysHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404720" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000621150.3:c.425G>A" ], "proteinEffect": { "hgvs": "ENSP00000484332.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000484332.2:p.Trp142_Ile531delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuArgGlnProArgProArgProHisLysAlaLeuGlySerArgGluValProSerLeuProProGlyCysTyrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405145" }, { "@id": "http://reg.genome.network/allele/PA2826521275", "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Trp142Ter", "hgvsWellDefined": "NP_001257436.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020337" }, { "@id": "http://reg.genome.network/allele/PA2826522246", "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.1:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Trp142Ter", "hgvsWellDefined": "NP_001257437.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020338" }, { "@id": "http://reg.genome.network/allele/PA2741931230", "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "G", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.3:c.425G>A" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Trp142Ter", "hgvsWellDefined": "NP_006281.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031311" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_005267119.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_005267176.1:p.Trp142Ter", "hgvsWellDefined": "XP_005267176.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065299" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_006715555.1:c.-227G>A" ], "proteinEffect": { "hgvs": "XP_006715618.1:n.-227G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS071219" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536095.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011534397.1:p.Trp142Ter", "hgvsWellDefined": "XP_011534397.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103097" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Trp142Ter", "hgvsWellDefined": "XP_011534398.1:p.Trp142_Gly689delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103098" }, { "coordinates": [ { "allele": "A", "end": 765, "referenceAllele": "G", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.2:c.425G>A" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Trp142Ter", "hgvsWellDefined": "XP_011534398.1:p.Trp142_Gly689delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552329" }, { "coordinates": [ { "allele": "A", "end": 3766, "referenceAllele": "G", "start": 3765 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446532.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_024302300.1:p.Trp142Ter", "hgvsWellDefined": "XP_024302300.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580192" }, { "coordinates": [ { "allele": "A", "end": 1095, "referenceAllele": "G", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446533.1:c.425G>A" ], "proteinEffect": { "hgvs": "XP_024302301.1:p.Trp142Ter", "hgvsWellDefined": "XP_024302301.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580193" }, { "@id": "http://reg.genome.network/allele/PA2826522246", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.2:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Trp142Ter", "hgvsWellDefined": "NP_001257437.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.425G>A" }, "RefSeq": { "hgvs": "NM_001270508.2:c.425G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Trp142Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Trp142Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826521275", "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.2:c.425G>A" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Trp142Ter", "hgvsWellDefined": "NP_001257436.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681038" }, { "@id": "http://reg.genome.network/allele/PA2741931230", "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "G", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.4:c.425G>A" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Trp142Ter", "hgvsWellDefined": "NP_006281.1:p.Trp142_Gly790delinsGlnLeuGluSerLeuLysSerGlnGluPheValGluThrGlyLeuCysTyrAspThrArgAsnTrpAsnAspGluTrpAspAsnLeuIleLysMetAlaSerThrAspThrProMetAlaArgSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696665" } ], "type": "nucleotide" }