{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359880010",
  "communityStandardTitle": [
    "NM_181523.3(PIK3R1):c.1299+2T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3071885",
        "active": true,
        "id": "COSM3071885"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3071886",
        "active": true,
        "id": "COSM3071886"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3071887",
        "active": true,
        "id": "COSM3071887"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1329741[alleleid]",
        "alleleId": 1329741,
        "preferredName": "NM_181523.3(PIK3R1):c.1299+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1338736",
        "RCV": [
          "RCV001818106"
        ],
        "variationId": 1338736
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.67589313T>C?assembly=hg19",
        "id": "chr5:g.67589313T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.68293485T>C?assembly=hg38",
        "id": "chr5:g.68293485T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2112260009",
        "rs": 2112260009
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 68293485,
          "referenceAllele": "T",
          "start": 68293484
        }
      ],
      "hgvs": [
        "NC_000005.10:g.68293485T>C",
        "CM000667.2:g.68293485T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 67589313,
          "referenceAllele": "T",
          "start": 67589312
        }
      ],
      "hgvs": [
        "NC_000005.9:g.67589313T>C",
        "CM000667.1:g.67589313T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 67625069,
          "referenceAllele": "T",
          "start": 67625068
        }
      ],
      "hgvs": [
        "NC_000005.8:g.67625069T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82730,
          "referenceAllele": "T",
          "start": 82729
        }
      ],
      "hgvs": [
        "NG_012849.2:g.82730T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000320694.13:c.399+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323512.8:n.399+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 705,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000336483.10:c.489+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338554.5:n.489+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000517643.2:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513333.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000517698.6:c.*269+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430424.1:n.*269+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1886,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1886,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521657.6:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429277.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 902,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000522084.6:c.489+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429766.2:n.489+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1801,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1801,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697457.1:c.1224+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513315.1:n.1224+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2669,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2669,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697458.1:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513316.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1203,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697460.1:c.774+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513318.1:n.774+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1894,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1894,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697461.1:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513319.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697462.1:c.489+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513320.1:n.489+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697463.1:n.940+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697464.1:c.*265+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513322.1:n.*265+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697465.1:c.336+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513323.1:n.336+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697466.1:c.306+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513324.1:n.306+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 337,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697467.1:c.210+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513325.1:n.210+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697468.1:c.282+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513326.1:n.282+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1340,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697556.1:c.1206+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513334.1:n.1206+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697557.1:c.282+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513335.1:n.282+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1879,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1879,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521381.6:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428056.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000521381.6:c.1299+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_181523.3:c.1299+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000428056.1:n.1299+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_852664.1:n.1299+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 767,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 767,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000320694.12:c.399+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323512.8:n.399+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 581,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000336483.9:c.489+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338554.5:n.489+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000517698.5:c.*269+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430424.1:n.*269+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1842,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000518813.5:n.1842+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000519025.5:c.318+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429156.1:n.318+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 698,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 698,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000520550.1:n.698+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1915,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1915,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521381.5:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428056.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 337,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521409.5:c.210+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431058.1:n.210+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1863,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521657.5:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429277.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000523872.1:c.210+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430098.1:n.210+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_001242466.1:c.210+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229395.1:n.210+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181504.3:c.489+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852556.2:n.489+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1879,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1879,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181523.2:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852664.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181524.1:c.399+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852665.1:n.399+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1877,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1877,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_005248542.2:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248599.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 987,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_011543493.1:c.972+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541795.1:n.972+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1902,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_005248542.3:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248599.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1533,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_011543493.3:c.972+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541795.1:n.972+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2672,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2672,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_017009585.2:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865074.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1492,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_017009586.1:c.1026+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865075.1:n.1026+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1879,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1879,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181523.3:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852664.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000521381.6:c.1299+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_181523.3:c.1299+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000428056.1:n.1299+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_852664.1:n.1299+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_001242466.2:c.210+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229395.1:n.210+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181504.4:c.489+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852556.2:n.489+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 616,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181524.2:c.399+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852665.1:n.399+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700966"
    }
  ],
  "type": "nucleotide"
}