{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10392196",
  "communityStandardTitle": [
    "NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=28777",
        "active": true,
        "id": "COSM28777"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969882[alleleid]",
        "alleleId": 969882,
        "preferredName": "NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981697",
        "RCV": [
          "RCV001261239"
        ],
        "variationId": 981697
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-44879925-C-T",
        "id": "X-44879925-C-T",
        "variant": "X:44879925 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.44879925C>T?assembly=hg19",
        "id": "chrX:g.44879925C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.45020680C>T?assembly=hg38",
        "id": "chrX:g.45020680C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189751539",
        "rs": 189751539
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-45020680-C-T?dataset=gnomad_r3",
        "id": "X-45020680-C-T",
        "variant": "X:45020680 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-45020680-C-T?dataset=gnomad_r4",
        "id": "X-45020680-C-T",
        "variant": "X:45020680 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 45020680,
          "referenceAllele": "C",
          "start": 45020679
        }
      ],
      "hgvs": [
        "NC_000023.11:g.45020680C>T",
        "CM000685.2:g.45020680C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 44879925,
          "referenceAllele": "C",
          "start": 44879924
        }
      ],
      "hgvs": [
        "NC_000023.10:g.44879925C>T",
        "CM000685.1:g.44879925C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 44764869,
          "referenceAllele": "C",
          "start": 44764868
        }
      ],
      "hgvs": [
        "NC_000023.9:g.44764869C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152503,
          "referenceAllele": "C",
          "start": 152502
        }
      ],
      "hgvs": [
        "NG_016260.1:g.152503C>T",
        "LRG_616:g.152503C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003051"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000621147.5:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478793.1:p.Arg172Ter",
        "hgvsWellDefined": "ENSP00000478793.1:p.Arg172_Leu224delinsLeuGlyLeuMetPheLysValAsnThrAspTyrGluSerSerLeuLysHisPheGlnLeuAlaLeuValAspCysAsnProCysThrLeuSerAsnAlaGluIleGlnPheHisIleAlaHisLeuTyrGluThrGlnValGlyCysIleThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000682908.1:c.443+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508158.1:n.443+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683021.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507416.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683425.1:c.405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507291.1:p.Tyr135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000684352.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508379.1:p.Arg172Ter",
        "hgvsWellDefined": "ENSP00000508379.1:p.Arg172_Pro842delinsLeuGlyLeuMetPheLysValAsnThrAspTyrGluSerSerLeuLysHisPheGlnLeuAlaLeuValAspCysAsnProCysThrLeuSerAsnAlaGluIleGlnPheHisIleAlaHisLeuTyrGluThrGlnArgLysTyrHisSerAlaLysGluAlaTyrGluGlnLeuLeuGlnThrGluAsnLeuSerAlaGlnValLysAlaThrValLeuGlnGlnLeuGlyTrpMetHisHisThrValAspLeuLeuGlyAspLysAlaThrLysGluSerTyrAlaIleGlnTyrLeuGlnLysSerLeuGluAlaAspProAsnSerGlyGlnSerTrpTyrPheLeuGlyArgCysTyrSerSerIleGlyLysValGlnAspAlaPheIleSerTyrArgGlnSerIleAspLysSerGluAlaSerAlaAspThrTrpCysSerIleGlyValLeuTyrGlnGlnGlnAsnGlnProMetAspAlaLeuGlnAlaTyrIleCysAlaValGlnLeuAspHisGlyHisAlaAlaAlaTrpMetAspLeuGlyThrLeuTyrGluSerCysAsnGlnProGlnAspAlaIleLysCysTyrLeuAsnAlaThrArgSerLysSerCysSerAsnThrSerAlaLeuAlaAlaArgIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnProPheGlnGlnGlnHisLeuLeuGlnAsnProLeuSerArgGlnProGlnThrValLeuProAlaLeuThrAlaLeuThrValGlyTyrThrGlnLeuMetGluLysGlyTrpLysAsnLeuArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.9:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.9:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.6:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.6:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.3:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.6:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.3:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.5:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.2:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.514C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.514C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:p.Arg172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:p.Arg172Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674541.1:c.443+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501919.1:n.443+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674564.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502150.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674586.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502660.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674659.1:c.443+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502255.1:n.443+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674739.1:n.878C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674867.1:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502060.1:p.Arg119Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675157.1:n.408+9661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675182.1:n.398C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675440.1:n.669C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675514.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502759.1:p.Arg172Ter",
        "hgvsWellDefined": "ENSP00000502759.1:p.Arg172_Lys1129delinsLeuGlyLeuMetPheLysValAsnThrAspTyrGluSerSerLeuLysHisPheGlnLeuAlaLeuValAspCysAsnProCysThrLeuSerAsnAlaGluIleGlnPheHisIleAlaHisLeuTyrGluThrGlnArgLysTyrHisSerAlaLysGluAlaTyrGluGlnLeuLeuGlnThrGluAsnLeuSerAlaGlnValLysAlaThrValLeuGlnGlnLeuGlyTrpMetHisHisThrValAspLeuLeuGlyAspLysAlaThrLysGluSerTyrAlaIleGlnTyrLeuGlnLysSerLeuGluAlaAspProAsnSerGlyGlnSerTrpTyrPheLeuGlyArgCysTyrSerSerIleGlyLysValGlnAspAlaPheIleSerTyrArgGlnSerIleAspLysSerGluAlaSerAlaAspThrTrpCysSerIleGlyValLeuTyrGlnGlnGlnAsnGlnProMetAspAlaLeuGlnAlaTyrIleCysAlaValGlnLeuAspHisGlyHisAlaAlaAlaTrpMetAspLeuGlyThrLeuTyrGluSerCysAsnGlnProGlnAspAlaIleLysCysTyrLeuAsnAlaThrArgSerLysSerCysSerAsnThrSerAlaLeuAlaAlaArgIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysAsnArgLysSerSerLysProCysTrpSerTyrHisIleGlyHisGluHisSerSerThrIleHisGluSerSerArgGluGlnAsnThrArgSerSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2615,
          "referenceAllele": "C",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675525.1:n.2615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675577.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501855.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675816.1:n.669C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676062.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502311.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676085.1:c.443+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501752.1:n.443+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676133.1:c.*83C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502586.1:n.*83C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676343.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501761.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676389.1:n.473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.8:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.8:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.5:p.Arg148Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000475233.1:n.562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.5:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.2:p.Arg148Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.5:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.2:p.Arg148Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.4:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.1:p.Arg148Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000621147.4:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478793.1:p.Arg172Ter",
        "hgvsWellDefined": "ENSP00000478793.1:p.Arg172_Leu224delinsLeuGlyLeuMetPheLysValAsnThrAspTyrGluSerSerLeuLysHisPheGlnLeuAlaLeuValAspCysAsnProCysThrLeuSerAsnAlaGluIleGlnPheHisIleAlaHisLeuTyrGluThrGlnValGlyCysIleThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.1:c.514C>T",
        "LRG_616t1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.1:c.-190+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:n.-190+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.1:n.891C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543957.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542259.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543959.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542261.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543960.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542262.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543961.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542263.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543962.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542264.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543965.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542267.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543966.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542268.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543967.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542269.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543968.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542270.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543971.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542273.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543973.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542275.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543974.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542276.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.1:c.-190+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:n.-190+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543976.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542278.1:p.Arg191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XR_949018.1:n.948C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.5:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.5:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.3:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543974.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542276.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.2:c.-190+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:n.-190+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029783.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885272.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 386,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029784.1:c.-190+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885273.1:n.-190+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029785.1:c.-190+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885274.1:n.-190+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452438.1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308206.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452439.1:c.-12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308207.1:n.-12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XR_002958804.1:n.884C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.514C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.514C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:p.Arg172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:p.Arg172Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "endIntronDirection": "+",
          "endIntronOffset": 9661,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "+",
          "startIntronOffset": 9660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.2:c.-190+9661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:n.-190+9661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.4:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Arg172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.2:n.878C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730732"
    }
  ],
  "type": "nucleotide"
}