{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA294933", "communityStandardTitle": [ "NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168210[alleleid]", "alleleId": 168210, "preferredName": "NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159358", "RCV": [ "RCV001823116", "RCV003231258" ], "variationId": 159358 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176687121C>T?assembly=hg19", "id": "chr5:g.176687121C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177260120C>T?assembly=hg38", "id": "chr5:g.177260120C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784137", "rs": 587784137 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 177260120, "referenceAllele": "C", "start": 177260119 } ], "hgvs": [ "NC_000005.10:g.177260120C>T", "CM000667.2:g.177260120C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176687121, "referenceAllele": "C", "start": 176687120 } ], "hgvs": [ "NC_000005.9:g.176687121C>T", "CM000667.1:g.176687121C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176619727, "referenceAllele": "C", "start": 176619726 } ], "hgvs": [ "NC_000005.8:g.176619727C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 132042, "referenceAllele": "C", "start": 132041 } ], "hgvs": [ "NG_009821.1:g.132042C>T", "LRG_512:g.132042C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4480, "referenceAllele": "C", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.4225C>T" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Arg1409Ter", "hgvsWellDefined": "ENSP00000423372.3:p.Arg1409_Lys2405delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "T", "end": 4392, "referenceAllele": "C", "start": 4391 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.4225C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Arg1409Ter", "hgvsWellDefined": "ENSP00000343209.5:p.Arg1409_Lys2405delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "T", "end": 4451, "referenceAllele": "C", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.4225C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Arg1409Ter", "hgvsWellDefined": "ENSP00000346111.5:p.Arg1409_Lys2405delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "T", "end": 4681, "referenceAllele": "C", "start": 4680 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.4681C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "T", "end": 4410, "referenceAllele": "C", "start": 4409 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.4225C>T" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Arg1409Ter", "hgvsWellDefined": "ENSP00000510020.1:p.Arg1409_Lys2405delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "T", "end": 4807, "referenceAllele": "C", "start": 4806 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.4789C>T" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Arg1597Ter", "hgvsWellDefined": "ENSP00000508426.1:p.Arg1597_Lys2593delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "T", "end": 4495, "referenceAllele": "C", "start": 4494 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.4495C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "T", "end": 4428, "referenceAllele": "C", "start": 4427 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.4225C>T" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Arg1409Ter", "hgvsWellDefined": "ENSP00000509711.1:p.Arg1409_Lys2405delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "T", "end": 5245, "referenceAllele": "C", "start": 5244 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.5245C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "T", "end": 5295, "referenceAllele": "C", "start": 5294 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.5098C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1700Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5098C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5098C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1700Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1700Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4392, "referenceAllele": "C", "start": 4391 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.4291C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Arg1431Ter", "hgvsWellDefined": "ENSP00000343209.4:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "T", "end": 4451, "referenceAllele": "C", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.4291C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Arg1431Ter", "hgvsWellDefined": "ENSP00000346111.4:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "T", "end": 5143, "referenceAllele": "C", "start": 5142 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.5098C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1700Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "@id": "http://reg.genome.network/allele/PA294935", "coordinates": [ { "allele": "T", "end": 5236, "referenceAllele": "C", "start": 5235 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.5098C>T", "LRG_512t1:c.5098C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1700Ter", "hgvsWellDefined": "NP_071900.2:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "T", "end": 4451, "referenceAllele": "C", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.4291C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg1431Ter", "hgvsWellDefined": "NP_758859.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "T", "end": 5245, "referenceAllele": "C", "start": 5244 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Arg1700Ter", "hgvsWellDefined": "XP_005266016.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "T", "end": 4392, "referenceAllele": "C", "start": 4391 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.4291C>T" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Arg1431Ter", "hgvsWellDefined": "XP_005266017.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "T", "end": 4410, "referenceAllele": "C", "start": 4409 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.4291C>T" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Arg1431Ter", "hgvsWellDefined": "XP_005266018.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "T", "end": 752, "referenceAllele": "C", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.592C>T" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Arg198Ter", "hgvsWellDefined": "XP_005266019.1:p.Arg198_Lys1194delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "T", "end": 5167, "referenceAllele": "C", "start": 5166 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Arg1700Ter", "hgvsWellDefined": "XP_011532912.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "T", "end": 5138, "referenceAllele": "C", "start": 5137 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Arg1700Ter", "hgvsWellDefined": "XP_011532913.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "T", "end": 4881, "referenceAllele": "C", "start": 4880 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.4678C>T" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Arg1560Ter", "hgvsWellDefined": "XP_011532914.1:p.Arg1560_Lys2556delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "T", "end": 4233, "referenceAllele": "C", "start": 4232 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.4042C>T" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Arg1348Ter", "hgvsWellDefined": "XP_011532915.1:p.Arg1348_Lys2344delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "T", "end": 5304, "referenceAllele": "C", "start": 5303 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534614.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_011532916.1:p.Arg1700Ter", "hgvsWellDefined": "XP_011532916.1:p.Arg1700_Leu1728delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101626" }, { "coordinates": [ { "allele": "T", "end": 995, "referenceAllele": "C", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.832C>T" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Arg278Ter", "hgvsWellDefined": "XP_011532919.1:p.Arg278_Lys1274delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "T", "end": 4392, "referenceAllele": "C", "start": 4391 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.4291C>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Arg1431Ter", "hgvsWellDefined": "NP_001352613.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 5245, "referenceAllele": "C", "start": 5244 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Arg1700Ter", "hgvsWellDefined": "XP_024301918.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 5220, "referenceAllele": "C", "start": 5219 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Arg1700Ter", "hgvsWellDefined": "XP_024301919.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 5174, "referenceAllele": "C", "start": 5173 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Arg1700Ter", "hgvsWellDefined": "XP_024301920.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 5869, "referenceAllele": "C", "start": 5868 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Arg1700Ter", "hgvsWellDefined": "XP_024301921.1:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 4886, "referenceAllele": "C", "start": 4885 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.4678C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Arg1560Ter", "hgvsWellDefined": "XP_024301922.1:p.Arg1560_Lys2556delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 4584, "referenceAllele": "C", "start": 4583 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.4291C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Arg1431Ter", "hgvsWellDefined": "XP_024301923.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 4431, "referenceAllele": "C", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.4291C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Arg1431Ter", "hgvsWellDefined": "XP_024301924.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 4475, "referenceAllele": "C", "start": 4474 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.4291C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Arg1431Ter", "hgvsWellDefined": "XP_024301926.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 4269, "referenceAllele": "C", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.4042C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Arg1348Ter", "hgvsWellDefined": "XP_024301927.1:p.Arg1348_Lys2344delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 5324, "referenceAllele": "C", "start": 5323 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.5098C>T" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Arg1700Ter", "hgvsWellDefined": "XP_024301928.1:p.Arg1700_Leu1728delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "T", "end": 3946, "referenceAllele": "C", "start": 3945 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.832C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Arg278Ter", "hgvsWellDefined": "XP_024301930.1:p.Arg278_Lys1274delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.592C>T" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Arg198Ter", "hgvsWellDefined": "XP_024301931.1:p.Arg198_Lys1194delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA294935", "coordinates": [ { "allele": "T", "end": 5295, "referenceAllele": "C", "start": 5294 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.5098C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1700Ter", "hgvsWellDefined": "NP_071900.2:p.Arg1700_Lys2696delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5098C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5098C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1700Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1700Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4515, "referenceAllele": "C", "start": 4514 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.4291C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg1431Ter", "hgvsWellDefined": "NP_758859.1:p.Arg1431_Lys2427delinsAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluGlyGlySerLeuLeuCysCysAspSerCysProAlaAlaPheHisArgGluCysLeuAsnIleAspIleProGluGlyAsnTrpTyrCysAsnAspCysLysAlaGlyLysLysProHisTyrArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }