{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2269161100",
  "communityStandardTitle": [
    "NM_032043.3(BRIP1):c.2098-13912A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2191249",
        "rs": 2191249
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 61758503,
          "referenceAllele": "T",
          "start": 61758502
        }
      ],
      "hgvs": [
        "NC_000017.11:g.61758503T>A",
        "CM000679.2:g.61758503T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 59835864,
          "referenceAllele": "T",
          "start": 59835863
        }
      ],
      "hgvs": [
        "NC_000017.10:g.59835864T>A",
        "CM000679.1:g.59835864T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 57190646,
          "referenceAllele": "T",
          "start": 57190645
        }
      ],
      "hgvs": [
        "NC_000017.9:g.57190646T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110057,
          "referenceAllele": "A",
          "start": 110056
        }
      ],
      "hgvs": [
        "NG_007409.2:g.110057A>T",
        "LRG_300:g.110057A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000572"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1679,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1679,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000579028.2:c.1680-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463827.2:n.1680-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2171,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.2:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463272.2:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2227,
          "endIntronDirection": "+",
          "endIntronOffset": 171,
          "referenceAllele": "A",
          "start": 2227,
          "startIntronDirection": "+",
          "startIntronOffset": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682066.1:c.2227+171A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507191.1:n.2227+171A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682073.1:n.838-13912A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1176,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682433.1:n.1177-13912A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2210,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682453.1:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506943.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3115,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 3115,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682477.1:c.*1524-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507075.1:n.*1524-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7974,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 7974,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682589.1:n.7975-13912A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1905,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682755.1:c.1876-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507660.1:n.1876-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2340,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682989.1:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507786.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2419,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2419,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683039.1:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508303.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2350,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2350,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683235.1:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507646.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2313,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683381.1:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508184.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683535.1:n.228-13912A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 510,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684471.1:n.511-13912A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1590,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684584.1:c.1591-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508044.1:n.1591-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684769.1:c.163-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507691.1:n.163-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2372,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2372,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.7:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.2098-13912A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.2098-13912A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:n.2098-13912A>T"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:n.2098-13912A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2365,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.6:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2097,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2097,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000577598.5:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464654.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 80,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.1:c.81-13912A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2403,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.2:c.2098-13912A>T",
        "LRG_300t1:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2841,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2841,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.1:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2837,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2837,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.1:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2746,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2746,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.1:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2781,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2781,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.1:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2721,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2721,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.1:c.2038-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:n.2038-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2640,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.1:c.1957-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:n.1957-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1776,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.1:c.1675-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:n.1675-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2841,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2841,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.1:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2841,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2841,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.1:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2895,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2895,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.3:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2892,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2892,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.3:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3551,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 3551,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.2:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2835,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2835,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.3:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2772,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2772,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.2:c.2038-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:n.2038-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2691,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2691,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.2:c.1957-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:n.1957-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1771,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.2:c.1675-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:n.1675-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3024,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 3024,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.3:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3020,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 3020,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.3:c.2158-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:n.2158-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 1711,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025200.1:c.1615-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880689.1:n.1615-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2476,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2476,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025201.1:c.1615-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880690.1:n.1615-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 839,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025202.1:c.244-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880691.1:n.244-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 351,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025203.1:c.244-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880692.1:n.244-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2372,
          "endIntronDirection": "-",
          "endIntronOffset": 13911,
          "referenceAllele": "A",
          "start": 2372,
          "startIntronDirection": "-",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.3:c.2098-13912A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:n.2098-13912A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.2098-13912A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.2098-13912A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:n.2098-13912A>T"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:n.2098-13912A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}