{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA66035734", "communityStandardTitle": [ "NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421364[alleleid]", "alleleId": 421364, "preferredName": "NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429882", "RCV": [ "RCV000494006" ], "variationId": 429882 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.220431654G>A?assembly=hg19", "id": "chr2:g.220431654G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.219566932G>A?assembly=hg38", "id": "chr2:g.219566932G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775865076", "rs": 775865076 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-219566932-G-A?dataset=gnomad_r3", "id": "2-219566932-G-A", "variant": "2:219566932 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-219566932-G-A?dataset=gnomad_r4", "id": "2-219566932-G-A", "variant": "2:219566932 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 219566932, "referenceAllele": "G", "start": 219566931 } ], "hgvs": [ "NC_000002.12:g.219566932G>A", "CM000664.2:g.219566932G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 220431654, "referenceAllele": "G", "start": 220431653 } ], "hgvs": [ "NC_000002.11:g.220431654G>A", "CM000664.1:g.220431654G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 220139898, "referenceAllele": "G", "start": 220139897 } ], "hgvs": [ "NC_000002.10:g.220139898G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 9615, "referenceAllele": "C", "start": 9614 } ], "hgvs": [ "NG_016977.1:g.9615C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003346" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2339, "referenceAllele": "C", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000404537.6:c.2032C>T" ], "proteinEffect": { "hgvs": "ENSP00000385636.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS754093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404537.6:c.2032C>T" }, "RefSeq": { "hgvs": "NM_015311.3:c.2032C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385636.1:p.Gln678Ter" }, "RefSeq": { "hgvs": "NP_056126.1:p.Gln678Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000289656.3:c.793C>T" ], "proteinEffect": { "hgvs": "ENSP00000289656.3:p.Gln265Ter", "hgvsWellDefined": "ENSP00000289656.3:p.Gln265_Glu612delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluSerTyrGlnSerGlnAspSerSerAsnAsnAsnProGluLeuCysValLeuLeuLysLysProLysThrArgArgLeuTrpSerArgPheProProTrpArgArgThrAlaGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253587" }, { "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000373873.8:c.2032C>T" ], "proteinEffect": { "hgvs": "ENSP00000362980.4:p.Gln678Ter", "hgvsWellDefined": "ENSP00000362980.4:p.Gln678_Glu1025delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluSerTyrGlnSerGlnAspSerSerAsnAsnAsnProGluLeuCysValLeuLeuLysLysProLysThrArgArgLeuTrpSerArgPheProProTrpArgArgThrAlaGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269940" }, { "coordinates": [ { "allele": "T", "end": 2041, "referenceAllele": "C", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000373876.5:c.2032C>T" ], "proteinEffect": { "hgvs": "ENSP00000362983.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS269942" }, { "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000404537.5:c.2032C>T" ], "proteinEffect": { "hgvs": "ENSP00000385636.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS280097" }, { "coordinates": [ { "allele": "T", "end": 1539, "referenceAllele": "C", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000465149.1:n.1539C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308815" }, { "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000603926.5:c.2032C>T" ], "proteinEffect": { "hgvs": "ENSP00000474519.1:p.Gln678Ter", "hgvsWellDefined": "ENSP00000474519.1:p.Gln678_Ser1543delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgArgGluCysProValLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398829" }, { "@id": "http://reg.genome.network/allele/PA2826084487", "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173408.1:c.2032C>T" ], "proteinEffect": { "hgvs": "NP_001166879.1:p.Gln678Ter", "hgvsWellDefined": "NP_001166879.1:p.Gln678_Glu1025delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluSerTyrGlnSerGlnAspSerSerAsnAsnAsnProGluLeuCysValLeuLeuLysLysProLysThrArgArgLeuTrpSerArgPheProProTrpArgArgThrAlaGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015579" }, { "@id": "http://reg.genome.network/allele/PA2826086807", "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173431.1:c.2032C>T" ], "proteinEffect": { "hgvs": "NP_001166902.1:p.Gln678Ter", "hgvsWellDefined": "NP_001166902.1:p.Gln678_Ser1543delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgArgGluCysProValLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015581" }, { "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_015311.2:c.2032C>T" ], "proteinEffect": { "hgvs": "NP_056126.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS033914" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_005246424.3:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_005246481.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS057621" }, { "coordinates": [ { "allele": "T", "end": 2372, "referenceAllele": "C", "start": 2371 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_005246427.3:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_005246484.1:p.Gln678Ter", "hgvsWellDefined": "XP_005246484.1:p.Gln678_Ser1359delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgArgGluCysProValLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057622" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510854.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509156.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078115" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510855.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509157.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078116" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510856.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509158.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078117" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510857.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509159.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078118" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510858.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509160.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078119" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510859.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509161.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078120" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510860.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509162.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078121" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510861.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509163.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078122" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510862.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509164.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509164.1:p.Gln678_Ala1651delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgProArgGlnLeuArgValLeuArgProLeuGluAspValThrIleSerGluGlyGlySerAlaThrPheGlnLeuGluLeuSerGlnGluGlyValThrGlyGluTrpAlaArgGlyGlyValGlnLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGlyArgGluArgAlaTyrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078123" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510863.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509165.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509165.1:p.Gln678_Ala1543delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgArgArgGluArgAlaTyrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078124" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510864.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509166.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509166.1:p.Gln678_Ala1493delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnArgGlnSerCysCysSerTyrGlyGlyCysArgMetCysGlyGlnArgLysAlaArgMetCysValSerLysTrpArgGlnAlaGluTrpValGlnArgGlyProCysAlaGlyCysGluValGlySerProCysProThrThrLeuAlaCysProTrpProArgMetGlyThrSerThrAlaSerSerSerMetValSerTyrTrpProThrArgAlaProThrAlaAlaArgAlaThrThrIleAlaProTrpProGlySerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078125" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510865.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509167.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509167.1:p.Gln678_Ala1493delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnArgGlnSerCysCysSerTyrGlyGlyCysArgMetCysGlyGlnArgLysAlaArgMetCysValSerLysTrpArgGlnAlaGluTrpValGlnArgGlyProCysAlaGlyCysGluValGlySerProCysProThrThrLeuAlaCysProTrpProArgMetGlyThrSerThrAlaSerSerSerMetValSerTyrTrpProThrArgAlaProThrAlaAlaArgAlaThrThrIleAlaProTrpProGlySerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078126" }, { "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "C", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510866.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509168.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509168.1:p.Gln678_Ala1401delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnArgGlnSerCysCysSerTyrGlyGlyCysArgMetCysGlyGlnArgLysAlaArgMetCysValSerLysTrpArgGlnAlaGluTrpValGlnArgGlyProCysAlaGlyCysGluValGlySerProCysProThrThrLeuAlaCysProTrpProArgMetGlyThrSerThrAlaSerSerSerMetValSerTyrTrpProThrArgAlaProThrAlaAlaArgAlaThrThrIleAlaProTrpProGlySerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078127" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510857.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509159.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS541912" }, { "coordinates": [ { "allele": "T", "end": 2366, "referenceAllele": "C", "start": 2365 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510863.3:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509165.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509165.1:p.Gln678_Ala1543delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgArgArgGluArgAlaTyrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541913" }, { "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510864.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509166.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509166.1:p.Gln678_Ala1493delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnArgGlnSerCysCysSerTyrGlyGlyCysArgMetCysGlyGlnArgLysAlaArgMetCysValSerLysTrpArgGlnAlaGluTrpValGlnArgGlyProCysAlaGlyCysGluValGlySerProCysProThrThrLeuAlaCysProTrpProArgMetGlyThrSerThrAlaSerSerSerMetValSerTyrTrpProThrArgAlaProThrAlaAlaArgAlaThrThrIleAlaProTrpProGlySerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541914" }, { "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510865.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509167.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509167.1:p.Gln678_Ala1493delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnArgGlnSerCysCysSerTyrGlyGlyCysArgMetCysGlyGlnArgLysAlaArgMetCysValSerLysTrpArgGlnAlaGluTrpValGlnArgGlyProCysAlaGlyCysGluValGlySerProCysProThrThrLeuAlaCysProTrpProArgMetGlyThrSerThrAlaSerSerSerMetValSerTyrTrpProThrArgAlaProThrAlaAlaArgAlaThrThrIleAlaProTrpProGlySerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541915" }, { "coordinates": [ { "allele": "T", "end": 2364, "referenceAllele": "C", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510866.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_011509168.1:p.Gln678Ter", "hgvsWellDefined": "XP_011509168.1:p.Gln678_Ala1401delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnArgGlnSerCysCysSerTyrGlyGlyCysArgMetCysGlyGlnArgLysAlaArgMetCysValSerLysTrpArgGlnAlaGluTrpValGlnArgGlyProCysAlaGlyCysGluValGlySerProCysProThrThrLeuAlaCysProTrpProArgMetGlyThrSerThrAlaSerSerSerMetValSerTyrTrpProThrArgAlaProThrAlaAlaArgAlaThrThrIleAlaProTrpProGlySerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541916" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003696.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_016859185.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559367" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003697.2:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_016859186.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559368" }, { "coordinates": [ { "allele": "T", "end": 2371, "referenceAllele": "C", "start": 2370 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003698.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_016859187.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559369" }, { "coordinates": [ { "allele": "T", "end": 2372, "referenceAllele": "C", "start": 2371 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003699.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_016859188.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559370" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003700.1:c.2032C>T" ], "proteinEffect": { "hgvs": "XP_016859189.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559371" }, { "coordinates": [ { "allele": "T", "end": 2339, "referenceAllele": "C", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_015311.3:c.2032C>T" ], "proteinEffect": { "hgvs": "NP_056126.1:p.Gln678Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS668708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404537.6:c.2032C>T" }, "RefSeq": { "hgvs": "NM_015311.3:c.2032C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385636.1:p.Gln678Ter" }, "RefSeq": { "hgvs": "NP_056126.1:p.Gln678Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826084487", "coordinates": [ { "allele": "T", "end": 2339, "referenceAllele": "C", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173408.2:c.2032C>T" ], "proteinEffect": { "hgvs": "NP_001166879.1:p.Gln678Ter", "hgvsWellDefined": "NP_001166879.1:p.Gln678_Glu1025delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluSerTyrGlnSerGlnAspSerSerAsnAsnAsnProGluLeuCysValLeuLeuLysLysProLysThrArgArgLeuTrpSerArgPheProProTrpArgArgThrAlaGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678804" }, { "@id": "http://reg.genome.network/allele/PA2826086807", "coordinates": [ { "allele": "T", "end": 2339, "referenceAllele": "C", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_001173431.2:c.2032C>T" ], "proteinEffect": { "hgvs": "NP_001166902.1:p.Gln678Ter", "hgvsWellDefined": "NP_001166902.1:p.Gln678_Ser1543delinsHisArgLeuIleLeuHisAlaValLysHisGlnAspSerGlyAlaLeuValGlyPheSerCysProGlyValGlnAspSerAlaAlaLeuThrIleGlnGluSerProValHisIleLeuSerProGlnAspArgValSerLeuThrPheThrThrSerGluArgValValLeuThrCysGluLeuSerArgValAspPheProAlaThrTrpTyrLysAspGlyGlnLysValGluGluSerGluLeuLeuValValLysMetAspGlyArgLysHisArgLeuIleLeuProGluAlaLysValGlnAspSerGlyGluPheGluCysArgThrGluGlyValSerAlaPhePheGlyValThrValGlnAspProProValHisIleValAspProArgGluHisValPheValHisAlaIleThrSerGluCysValMetLeuAlaCysGluValAspArgGluAspAlaProValArgTrpTyrLysAspGlyGlnGluValGluGluSerAspPheValValLeuGluAsnGluGlyProHisArgArgLeuValLeuProAlaThrGlnProSerAspGlyGlyGluPheGlnCysValAlaGlyAspGluCysAlaTyrPheThrValThrIleThrAspValSerSerTrpIleValTyrProSerGlyLysValTyrValAlaAlaValArgLeuGluArgValValLeuThrCysGluLeuCysArgProTrpAlaGluValArgTrpThrLysAspGlyGluGluValValGluSerProAlaLeuLeuLeuGlnLysGluAspThrValArgArgLeuValLeuProAlaValGlnLeuGluAspSerGlyGluTyrLeuCysGluIleAspAspGluSerAlaSerPheThrValThrValThrGluProProValArgIleIleTyrProArgAspGluValThrLeuIleAlaValThrLeuGluCysValValLeuMetCysGluLeuSerArgGluAspAlaProValArgTrpTyrLysAspGlyLeuGluValGluGluSerGluAlaLeuValLeuGluArgAspGlyProArgCysArgLeuValLeuProAlaAlaGlnProGluAspGlyGlyGluPheValCysAspAlaGlyAspAspSerAlaPhePheThrValThrValThrAlaProProGluArgIleValHisProAlaAlaArgSerLeuAspLeuHisPheGlyAlaProGlyArgValGluLeuArgCysGluValAlaProAlaGlySerGlnValArgTrpTyrLysAspGlyLeuGluValGluAlaSerAspAlaLeuGlnLeuGlyAlaGluGlyProThrArgThrLeuThrLeuProHisAlaGlnProGluAspAlaGlyGluTyrValCysGluThrArgHisGluAlaIleThrPheAsnValIleLeuAlaGluProProValGlnPheLeuAlaLeuGluThrThrProSerProLeuCysValAlaProGlyGluProValValLeuSerCysGluLeuSerArgAlaGlyAlaProValValTrpSerHisAsnGlyArgProValGlnGluGlyGluGlyLeuGluLeuHisAlaGluGlyProArgArgValLeuCysIleGlnAlaAlaGlyProAlaHisAlaGlyLeuTyrThrCysGlnSerGlyAlaAlaProGlyAlaProSerLeuSerPheThrValGlnValAlaGluProProValArgValValAlaProGluAlaAlaGlnThrArgValArgSerThrProGlyGlyAspLeuGluLeuValValHisLeuSerGlyProGlyGlyProValArgTrpTyrLysAspGlyGluArgLeuAlaSerGlnGlyArgValGlnLeuGluGlnAlaGlyAlaArgGlnValLeuArgValGlnGlyAlaArgSerGlyAspAlaGlyGluTyrLeuCysAspAlaProGlnAspSerArgIlePheLeuValSerValGluGluProLeuLeuValLysLeuValSerGluLeuThrProLeuThrValHisGluGlyAspAspAlaThrPheArgCysGluValSerProProAspAlaAspValThrTrpLeuArgAsnGlyAlaValValThrProGlyProGlnValGluMetAlaGlnAsnGlySerSerArgIleLeuThrLeuArgGlyCysGlnLeuGlyAspAlaGlyThrValThrLeuArgAlaGlySerThrAlaThrSerAlaArgLeuHisValArgGluThrGluLeuLeuPheLeuArgArgLeuGlnAspValArgAlaGluGluGlyGlnAspValCysLeuGluValGluThrGlyArgValGlyAlaAlaGlyAlaValArgTrpValArgGlyGlyGlnProLeuProHisAspSerArgLeuSerMetAlaGlnAspGlyHisIleHisArgLeuPheIleHisGlyValIleLeuAlaAspGlnGlyThrTyrGlyCysGluSerHisHisAspArgThrLeuAlaArgLeuSerValArgArgGluCysProValLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678806" } ], "type": "nucleotide" }