{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10603665", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=133571", "active": true, "id": "COSM133571" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265097[alleleid]", "alleleId": 265097, "preferredName": "NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280228", "RCV": [ "RCV000331527", "RCV002470834" ], "variationId": 280228 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31022382C>T?assembly=hg19", "id": "chr20:g.31022382C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32434579C>T?assembly=hg38", "id": "chr20:g.32434579C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/111316898", "rs": 111316898 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-31022382-C-T?dataset=gnomad_r2_1", "id": "20-31022382-C-T", "variant": "20:31022382 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32434579-C-T?dataset=gnomad_r4", "id": "20-32434579-C-T", "variant": "20:32434579 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 32434579, "referenceAllele": "C", "start": 32434578 } ], "hgvs": [ "NC_000020.11:g.32434579C>T", "CM000682.2:g.32434579C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 31022382, "referenceAllele": "C", "start": 31022381 } ], "hgvs": [ "NC_000020.10:g.31022382C>T", "CM000682.1:g.31022382C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 30486043, "referenceAllele": "C", "start": 30486042 } ], "hgvs": [ "NC_000020.9:g.30486043C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 81236, "referenceAllele": "C", "start": 81235 } ], "hgvs": [ "NG_027868.1:g.81236C>T", "LRG_630:g.81236C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2312, "referenceAllele": "C", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.1867C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Gln623Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Gln623_Arg1541delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.1867C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.1867C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln623Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln623Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000644168.1:n.1409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767674" }, { "coordinates": [ { "allele": "T", "end": 1927, "referenceAllele": "C", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.1684C>T" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Gln562Ter", "hgvsWellDefined": "ENSP00000495053.1:p.Gln562_Arg1480delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "T", "end": 4220, "referenceAllele": "C", "start": 4219 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000647223.1:n.4220C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769293" }, { "coordinates": [ { "allele": "T", "end": 2313, "referenceAllele": "C", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.1867C>T" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:p.Gln623Ter", "hgvsWellDefined": "ENSP00000499150.1:p.Gln623_His625delinsSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.1852C>T" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Gln618Ter", "hgvsWellDefined": "ENSP00000305119.5:p.Gln618_Arg1536delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.1867C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Gln623Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Gln623_Arg1541delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "T", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.1867C>T" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Gln623Ter", "hgvsWellDefined": "ENSP00000480487.1:p.Gln623_Arg1541delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "T", "end": 2062, "referenceAllele": "C", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.1867C>T" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Gln623Ter", "hgvsWellDefined": "ENSP00000481978.1:p.Gln623_Arg1541delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA645505148", "coordinates": [ { "allele": "T", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.1867C>T", "LRG_630t1:c.1867C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln623Ter", "hgvsWellDefined": "NP_056153.2:p.Gln623_Arg1541delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.1864C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Gln622Ter", "hgvsWellDefined": "XP_006723790.1:p.Gln622_Arg1540delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "T", "end": 1908, "referenceAllele": "C", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.1837C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Gln613Ter", "hgvsWellDefined": "XP_006723791.1:p.Gln613_Arg1531delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Gln595Ter", "hgvsWellDefined": "XP_006723793.1:p.Gln595_Arg1513delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "T", "end": 1927, "referenceAllele": "C", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.1684C>T" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Gln562Ter", "hgvsWellDefined": "XP_006723795.1:p.Gln562_Arg1480delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "C", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723733.1:c.1183C>T" ], "proteinEffect": { "hgvs": "XP_006723796.1:p.Gln395Ter", "hgvsWellDefined": "XP_006723796.1:p.Gln395_Arg1313delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075180" }, { "coordinates": [ { "allele": "T", "end": 2163, "referenceAllele": "C", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.2131C>T" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Gln711Ter", "hgvsWellDefined": "XP_011526949.1:p.Gln711_Arg1629delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "T", "end": 2160, "referenceAllele": "C", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Gln710Ter", "hgvsWellDefined": "XP_011526950.1:p.Gln710_Arg1628delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "T", "end": 2079, "referenceAllele": "C", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.2047C>T" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Gln683Ter", "hgvsWellDefined": "XP_011526951.1:p.Gln683_Arg1601delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "C", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.1978C>T" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Gln660Ter", "hgvsWellDefined": "XP_011526952.1:p.Gln660_Arg1578delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "T", "end": 1871, "referenceAllele": "C", "start": 1870 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.1846C>T" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Gln616Ter", "hgvsWellDefined": "XP_011526953.1:p.Gln616_Arg1534delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "T", "end": 2626, "referenceAllele": "C", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Gln595Ter", "hgvsWellDefined": "XP_011526954.1:p.Gln595_Arg1513delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107677", "coordinates": [ { "allele": "T", "end": 1927, "referenceAllele": "C", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.1684C>T" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Gln562Ter", "hgvsWellDefined": "NP_001350663.1:p.Gln562_Arg1480delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "T", "end": 2578, "referenceAllele": "C", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.1864C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Gln622Ter", "hgvsWellDefined": "XP_006723790.1:p.Gln622_Arg1540delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "T", "end": 1908, "referenceAllele": "C", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.1837C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Gln613Ter", "hgvsWellDefined": "XP_006723791.1:p.Gln613_Arg1531delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "T", "end": 2216, "referenceAllele": "C", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Gln595Ter", "hgvsWellDefined": "XP_006723793.1:p.Gln595_Arg1513delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "T", "end": 2143, "referenceAllele": "C", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Gln710Ter", "hgvsWellDefined": "XP_011526950.1:p.Gln710_Arg1628delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "T", "end": 3241, "referenceAllele": "C", "start": 3240 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Gln595Ter", "hgvsWellDefined": "XP_011526954.1:p.Gln595_Arg1513delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "T", "end": 3364, "referenceAllele": "C", "start": 3363 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Gln595Ter", "hgvsWellDefined": "XP_016883193.1:p.Gln595_Arg1513delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "T", "end": 2377, "referenceAllele": "C", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Gln595Ter", "hgvsWellDefined": "XP_016883194.1:p.Gln595_Arg1513delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "T", "end": 2428, "referenceAllele": "C", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Gln572Ter", "hgvsWellDefined": "XP_016883195.1:p.Gln572_Arg1490delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA645505148", "coordinates": [ { "allele": "T", "end": 2312, "referenceAllele": "C", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.1867C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln623Ter", "hgvsWellDefined": "NP_056153.2:p.Gln623_Arg1541delinsValArgGlyAlaArgGlyHisHisCysHisArgGluAlaAlaThrThrAlaIleGlyGlyGlyGlyGlyProGlyGlyGlyGlyGlyGlyAlaThrAspGluGlyGlyGlyArgGlySerSerSerGlyAspGlyGlyGluAlaCysGlyHisProGluProArgGlyGlyProSerThrProGlyLysCysThrSerAspLeuGlnArgThrGlnLeuLeuProProTyrProLeuAsnGlyGluHisThrGlnAlaGlyThrAlaMetSerArgAlaArgArgGluAspLeuProSerLeuArgLysGluGluSerCysLeuLeuGlnArgAlaThrValGlyLeuThrAspGlyLeuGlyAspAlaSerGlnLeuProValAlaProThrGlyAspGlnProCysGlnAlaLeuProLeuLeuSerSerGlnThrSerValAlaGluArgLeuValGluGlnProGlnLeuHisProAspValArgThrGluCysGluSerGlyThrThrSerTrpGluSerAspAspGluGluGlnGlyProThrValProAlaAspAsnGlyProIleProSerLeuValGlyAspAspThrLeuGluLysGlyThrGlyGlnAlaLeuAspSerHisProThrMetLysAspProValAsnValThrProSerSerThrProGluSerSerProThrAspCysLeuGlnAsnArgAlaPheAspAspGluLeuGlyLeuGlyGlySerCysProProMetArgGluSerAspThrArgGlnGluAsnLeuLysThrLysAlaLeuValSerAsnSerSerLeuHisTrpIleProIleProSerAsnAspGluValValLysGlnProLysProGluSerArgGluHisIleProSerValGluProGlnValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.1867C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.1867C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln623Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln623Ter" } } } } ], "type": "nucleotide" }