{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412777763",
  "communityStandardTitle": [
    "NM_001291415.2(KDM6A):c.4332+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1255501",
        "active": true,
        "id": "COSM1255501"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5048330",
        "active": true,
        "id": "COSM5048330"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5048331",
        "active": true,
        "id": "COSM5048331"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5048332",
        "active": true,
        "id": "COSM5048332"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1318071[alleleid]",
        "alleleId": 1318071,
        "preferredName": "NM_001291415.2(KDM6A):c.4332+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1327498",
        "RCV": [
          "RCV001789726"
        ],
        "variationId": 1327498
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.44969495G>A?assembly=hg19",
        "id": "chrX:g.44969495G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.45110250G>A?assembly=hg38",
        "id": "chrX:g.45110250G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148308441",
        "rs": 2148308441
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 45110250,
          "referenceAllele": "G",
          "start": 45110249
        }
      ],
      "hgvs": [
        "NC_000023.11:g.45110250G>A",
        "CM000685.2:g.45110250G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 44969495,
          "referenceAllele": "G",
          "start": 44969494
        }
      ],
      "hgvs": [
        "NC_000023.10:g.44969495G>A",
        "CM000685.1:g.44969495G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 44854439,
          "referenceAllele": "G",
          "start": 44854438
        }
      ],
      "hgvs": [
        "NC_000023.9:g.44854439G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242073,
          "referenceAllele": "G",
          "start": 242072
        }
      ],
      "hgvs": [
        "NG_016260.1:g.242073G>A",
        "LRG_616:g.242073G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003051"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4076,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4076,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000682908.1:c.4076+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508158.1:n.4076+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4095,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4095,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683021.1:c.4095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507416.1:n.4095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4174,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4174,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683425.1:c.*3659+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507291.1:n.*3659+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000684352.1:c.4106+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508379.1:n.4106+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4540,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4540,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.9:c.4176+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:n.4176+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4561,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4561,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.9:c.4197+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.6:n.4197+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000431196.3:c.454+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3484,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3484,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000479423.2:n.3484+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4405,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4405,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.6:c.4041+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.3:n.4041+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4303,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4303,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.6:c.3939+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.3:n.3939+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4696,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4696,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.5:c.4332+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.2:n.4332+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.4332+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.4332+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:n.4332+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:n.4332+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674541.1:c.*3464+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501919.1:n.*3464+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4427,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4427,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674564.1:c.*181+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502150.1:n.*181+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4618,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4618,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674586.1:c.4254+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502660.1:n.4254+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4234,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4234,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674659.1:c.*3414+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502255.1:n.*3414+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5234,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5234,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674739.1:n.5234+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4402,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4402,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674867.1:c.4038+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502060.1:n.4038+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3783,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3783,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675157.1:n.3783+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4216,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4216,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675182.1:n.4216+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4481,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4481,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675514.1:c.*727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502759.1:n.*727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6298,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 6298,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675525.1:n.6298+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10956,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10956,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675546.1:n.10956+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4438,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4438,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675577.1:c.4074+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501855.1:n.4074+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5220,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5220,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675816.1:n.5220+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4733,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4733,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676062.1:c.*358+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502311.1:n.*358+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4182,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4182,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676085.1:c.*3362+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501752.1:n.*3362+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4974,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4974,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676133.1:c.*4229+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502586.1:n.*4229+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4419,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4419,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676343.1:c.*284+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501761.1:n.*284+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4619,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4619,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676389.1:n.4619+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4217,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4217,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.8:c.4176+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:n.4176+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4572,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4572,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.8:c.4125+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.5:n.4125+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2968,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2968,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000414389.5:c.2968+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS283510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000431196.2:c.454+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3103,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3103,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000433797.5:c.3103+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4416,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4416,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.5:c.3969+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.2:n.3969+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4438,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4438,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.5:c.*181+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.2:n.*181+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4707,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4707,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.4:c.4260+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.1:n.4260+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2846,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2846,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000621147.4:c.2846+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478793.1:n.2846+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4709,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4709,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.1:c.4332+1G>A",
        "LRG_616t1:c.4332+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:n.4332+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4574,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.1:c.4197+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:n.4197+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4418,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4418,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.1:c.4041+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:n.4041+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4316,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4316,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.1:c.3939+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:n.3939+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4297,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4297,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.1:c.3288+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:n.3288+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.3:c.4176+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:n.4176+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4440,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4440,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.1:n.4440+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.3:c.4230+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:n.4230+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4451,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4451,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.3:c.4074+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:n.4074+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4874,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4874,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543957.1:c.4497+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542259.1:n.4497+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4817,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4817,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.1:c.4440+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:n.4440+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4772,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4772,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543959.1:c.4395+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542261.1:n.4395+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4766,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4766,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543960.1:c.4389+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542262.1:n.4389+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4739,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4739,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543961.1:c.4362+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542263.1:n.4362+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4718,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4718,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543962.1:c.4341+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542264.1:n.4341+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4682,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4682,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.1:c.4305+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:n.4305+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4661,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.1:c.4284+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:n.4284+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4637,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4637,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543965.1:c.4260+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542267.1:n.4260+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4616,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4616,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543966.1:c.4239+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542268.1:n.4239+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4610,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4610,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543967.1:c.4233+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542269.1:n.4233+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4583,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4583,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543968.1:c.4206+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542270.1:n.4206+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4580,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4580,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.1:c.4203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:n.4203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4559,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4559,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.1:c.4182+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:n.4182+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4529,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4529,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543971.1:c.4152+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542273.1:n.4152+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.1:c.4149+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:n.4149+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4475,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4475,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543973.1:c.4098+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542275.1:n.4098+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3987,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.1:c.3687+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:n.3687+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4600,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4600,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.5:c.4230+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:n.4230+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4444,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4444,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.5:c.4074+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:n.4074+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4810,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4810,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.3:c.4440+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:n.4440+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4675,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4675,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.3:c.4305+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:n.4305+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4654,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4654,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.3:c.4284+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:n.4284+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.3:c.4203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:n.4203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4552,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4552,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.3:c.4182+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:n.4182+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4519,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4519,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.3:c.4149+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:n.4149+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3987,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3987,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.2:c.3687+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:n.3687+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4465,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4465,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029783.2:c.4095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885272.1:n.4095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4127,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029784.1:c.3552+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885273.1:n.3552+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3992,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3992,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029785.1:c.3186+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885274.1:n.3186+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4708,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4708,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452438.1:c.4338+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308206.1:n.4338+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4448,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4448,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452439.1:c.3915+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308207.1:n.3915+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4874,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4874,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XR_002958804.1:n.4874+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4696,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4696,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.2:c.4332+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:n.4332+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.4332+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.4332+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:n.4332+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:n.4332+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4561,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4561,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.2:c.4197+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:n.4197+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4405,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4405,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.2:c.4041+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:n.4041+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4303,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4303,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.2:c.3939+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:n.3939+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.2:c.3288+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:n.3288+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4540,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4540,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.4:c.4176+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:n.4176+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4427,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4427,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.2:n.4427+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730732"
    }
  ],
  "type": "nucleotide"
}