{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365783320", "communityStandardTitle": [ "NM_001270508.2(TNFAIP3):c.547C>T (p.Arg183Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=35931", "active": true, "id": "COSM35931" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1379868[alleleid]", "alleleId": 1379868, "preferredName": "NM_001270508.2(TNFAIP3):c.547C>T (p.Arg183Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1428578", "RCV": [ "RCV001948310", "RCV003229628" ], "variationId": 1428578 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.138196885C>T?assembly=hg19", "id": "chr6:g.138196885C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.137875748C>T?assembly=hg38", "id": "chr6:g.137875748C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1423560438", "rs": 1423560438 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-138196885-C-T?dataset=gnomad_r2_1", "id": "6-138196885-C-T", "variant": "6:138196885 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 137875748, "referenceAllele": "C", "start": 137875747 } ], "hgvs": [ "NC_000006.12:g.137875748C>T", "CM000668.2:g.137875748C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 138196885, "referenceAllele": "C", "start": 138196884 } ], "hgvs": [ "NC_000006.11:g.138196885C>T", "CM000668.1:g.138196885C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 138238578, "referenceAllele": "C", "start": 138238577 } ], "hgvs": [ "NC_000006.10:g.138238578C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 13305, "referenceAllele": "C", "start": 13304 } ], "hgvs": [ "NG_032761.1:g.13305C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000420009.6:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000401562.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000401562.2:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914035" }, { "coordinates": [ { "allele": "T", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000711061.1:c.*270C>T" ], "proteinEffect": { "hgvs": "ENSP00000518561.1:n.*270C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914581" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000421450.2:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000393577.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000393577.2:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904763" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000433680.2:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000409845.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000409845.2:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904854" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.2:n.1008C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905325" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698329.1:n.736C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909317" }, { "coordinates": [ { "allele": "T", "end": 295, "endIntronDirection": "-", "endIntronOffset": 2683, "referenceAllele": "C", "start": 295, "startIntronDirection": "-", "startIntronOffset": 2684 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698330.1:n.296-2684C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909318" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.5:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761897", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.547C>T" }, "RefSeq": { "hgvs": "NM_001270508.2:c.547C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Arg183Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Arg183Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000237289.8:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000237289.4:p.Arg183Ter", "hgvsWellDefined": "ENSP00000237289.4:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248998" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.4:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401513" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000614035.4:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000481122.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000481122.2:p.Arg183_Gln470delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlySerPheGlyProThrAspSerThrGlnProPheSerValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401998" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000615468.4:c.546C>T" ], "proteinEffect": { "hgvs": "ENSP00000479556.1:p.Pro182=" }, "referenceSequence": "http://reg.genome.network/refseq/RS402631" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000619035.4:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000478438.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000478438.1:p.Arg183_Gly749delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404194" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000620204.3:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000481454.1:p.Arg183Ter", "hgvsWellDefined": "ENSP00000481454.1:p.Arg183_Val669delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuPheHisArgValGlnArgLysGlnThrPheCysCysCysLeuArgGluSerGlnSerHisSerValGlnValProGluHisHisSerValProGlyGluGlyMetArgHisProTrpLysHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404720" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000621150.3:c.547C>T" ], "proteinEffect": { "hgvs": "ENSP00000484332.2:p.Arg183Ter", "hgvsWellDefined": "ENSP00000484332.2:p.Arg183_Ile531delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuArgGlnProArgProArgProHisLysAlaLeuGlySerArgGluValProSerLeuProProGlyCysTyrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405145" }, { "@id": "http://reg.genome.network/allele/PA2826521311", "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.1:c.547C>T" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Arg183Ter", "hgvsWellDefined": "NP_001257436.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020337" }, { "@id": "http://reg.genome.network/allele/PA2826522281", "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.1:c.547C>T" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Arg183Ter", "hgvsWellDefined": "NP_001257437.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020338" }, { "@id": "http://reg.genome.network/allele/PA2573249920", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.3:c.547C>T" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Arg183Ter", "hgvsWellDefined": "NP_006281.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031311" }, { "coordinates": [ { "allele": "T", "end": 636, "referenceAllele": "C", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_005267119.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_005267176.1:p.Arg183Ter", "hgvsWellDefined": "XP_005267176.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065299" }, { "coordinates": [ { "allele": "T", "end": 301, "endIntronDirection": "-", "endIntronOffset": 87, "referenceAllele": "C", "start": 301, "startIntronDirection": "-", "startIntronOffset": 88 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_006715555.1:c.-165-88C>T" ], "proteinEffect": { "hgvs": "XP_006715618.1:n.-165-88C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071219" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536095.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_011534397.1:p.Arg183Ter", "hgvsWellDefined": "XP_011534397.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103097" }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Arg183Ter", "hgvsWellDefined": "XP_011534398.1:p.Arg183_Gly689delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103098" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.2:c.547C>T" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Arg183Ter", "hgvsWellDefined": "XP_011534398.1:p.Arg183_Gly689delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552329" }, { "coordinates": [ { "allele": "T", "end": 3888, "referenceAllele": "C", "start": 3887 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446532.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_024302300.1:p.Arg183Ter", "hgvsWellDefined": "XP_024302300.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580192" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446533.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_024302301.1:p.Arg183Ter", "hgvsWellDefined": "XP_024302301.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580193" }, { "@id": "http://reg.genome.network/allele/PA2826522281", "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.2:c.547C>T" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Arg183Ter", "hgvsWellDefined": "NP_001257437.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.547C>T" }, "RefSeq": { "hgvs": "NM_001270508.2:c.547C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Arg183Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Arg183Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826521311", "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.2:c.547C>T" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Arg183Ter", "hgvsWellDefined": "NP_001257436.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681038" }, { "@id": "http://reg.genome.network/allele/PA2573249920", "coordinates": [ { "allele": "T", "end": 798, "referenceAllele": "C", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.4:c.547C>T" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Arg183Ter", "hgvsWellDefined": "NP_006281.1:p.Arg183_Gly790delinsSerGlyLeuGlnTyrAsnSerLeuGluGluIleHisIlePheValLeuCysAsnIleLeuArgArgProIleIleValIleSerAspLysMetLeuArgSerLeuGluSerGlySerAsnPheAlaProLeuLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696665" } ], "type": "nucleotide" }