{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9305023",
  "communityStandardTitle": [
    "NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=815935[alleleid]",
        "alleleId": 815935,
        "preferredName": "NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/827715",
        "RCV": [
          "RCV001027584",
          "RCV001823178"
        ],
        "variationId": 827715
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-18182981-G-T",
        "id": "19-18182981-G-T",
        "variant": "19:18182981 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18182981G>T?assembly=hg19",
        "id": "chr19:g.18182981G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18072171G>T?assembly=hg38",
        "id": "chr19:g.18072171G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147766868",
        "rs": 147766868
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18182981-G-T?dataset=gnomad_r2_1",
        "id": "19-18182981-G-T",
        "variant": "19:18182981 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18072171-G-T?dataset=gnomad_r3",
        "id": "19-18072171-G-T",
        "variant": "19:18072171 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18072171-G-T?dataset=gnomad_r4",
        "id": "19-18072171-G-T",
        "variant": "19:18072171 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18072171,
          "referenceAllele": "G",
          "start": 18072170
        }
      ],
      "hgvs": [
        "NC_000019.10:g.18072171G>T",
        "CM000681.2:g.18072171G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18182981,
          "referenceAllele": "G",
          "start": 18182980
        }
      ],
      "hgvs": [
        "NC_000019.9:g.18182981G>T",
        "CM000681.1:g.18182981G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18043981,
          "referenceAllele": "G",
          "start": 18043980
        }
      ],
      "hgvs": [
        "NC_000019.8:g.18043981G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31779,
          "referenceAllele": "C",
          "start": 31778
        }
      ],
      "hgvs": [
        "NG_007366.2:g.31779C>A",
        "LRG_72:g.31779C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000545"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "ENST00000593993.7:c.962C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000472165.2:p.Ser321_Met662delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000593993.7:c.962C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005535.3:c.962C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000472165.2:p.Ser321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005526.1:p.Ser321Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "ENST00000322153.11:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314425.5:p.Ser321Ter",
        "hgvsWellDefined": "ENSP00000314425.5:p.Ser321_Phe381delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrAspGlyMetIleSerAlaHisCysAsnLeuArgLeuProAspSerArgAspSerProAlaSerAlaSerArgValAlaGlyIleThrGlyIleCysHisHisThrArgLeuIleLeuTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "ENST00000593993.6:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472165.2:p.Ser321Ter",
        "hgvsWellDefined": "ENSP00000472165.2:p.Ser321_Met662delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
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      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "ENST00000600835.6:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470788.1:p.Ser321Ter",
        "hgvsWellDefined": "ENSP00000470788.1:p.Ser321_Met662delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826773191",
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_001290023.1:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276952.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_001276952.1:p.Ser321_Arg660delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017359",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_001290024.1:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276953.1:p.Ser361Ter",
        "hgvsWellDefined": "NP_001276953.1:p.Ser361_Met702delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829597208",
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_005535.2:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005526.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_005526.1:p.Ser321_Met662delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830333892",
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_153701.2:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714912.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_714912.1:p.Ser321_Phe381delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrAspGlyMetIleSerAlaHisCysAsnLeuArgLeuProAspSerArgAspSerProAlaSerAlaSerArgValAlaGlyIleThrGlyIleCysHisHisThrArgLeuIleLeuTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_006722741.2:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722804.2:p.Ser361Ter",
        "hgvsWellDefined": "XP_006722804.2:p.Ser361_Tyr714delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysThrArgArgAlaThrIleSerIleThrThrAlaGlyTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527966.1:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526268.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526268.1:p.Ser372_Pro745delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527967.1:c.1103C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526269.1:p.Ser368Ter",
        "hgvsWellDefined": "XP_011526269.1:p.Ser368_Pro741delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527968.1:c.1094C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526270.1:p.Ser365Ter",
        "hgvsWellDefined": "XP_011526270.1:p.Ser365_Pro738delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527969.1:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526271.1:p.Ser361Ter",
        "hgvsWellDefined": "XP_011526271.1:p.Ser361_Pro734delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527970.1:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526272.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526272.1:p.Ser372_Tyr725delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysThrArgArgAlaThrIleSerIleThrThrAlaGlyTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527971.1:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526273.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526273.1:p.Ser372_Met713delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527972.1:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526274.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526274.1:p.Ser372_Arg711delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527973.1:c.995C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526275.1:p.Ser332Ter",
        "hgvsWellDefined": "XP_011526275.1:p.Ser332_Pro705delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527974.1:c.983C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526276.1:p.Ser328Ter",
        "hgvsWellDefined": "XP_011526276.1:p.Ser328_Pro701delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527975.1:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526277.1:p.Ser361Ter",
        "hgvsWellDefined": "XP_011526277.1:p.Ser361_Arg700delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527976.1:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526278.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526278.1:p.Ser372_Gln601delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleAlaThrGlyGlnValGlySerValValSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527977.1:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526279.1:p.Ser361Ter",
        "hgvsWellDefined": "XP_011526279.1:p.Ser361_Phe421delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrAspGlyMetIleSerAlaHisCysAsnLeuArgLeuProAspSerArgAspSerProAlaSerAlaSerArgValAlaGlyIleThrGlyIleCysHisHisThrArgLeuIleLeuTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_006722741.3:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722804.2:p.Ser361Ter",
        "hgvsWellDefined": "XP_006722804.2:p.Ser361_Tyr714delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysThrArgArgAlaThrIleSerIleThrThrAlaGlyTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527966.2:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526268.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526268.1:p.Ser372_Pro745delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527967.2:c.1103C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526269.1:p.Ser368Ter",
        "hgvsWellDefined": "XP_011526269.1:p.Ser368_Pro741delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527968.3:c.1094C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526270.1:p.Ser365Ter",
        "hgvsWellDefined": "XP_011526270.1:p.Ser365_Pro738delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527969.2:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526271.1:p.Ser361Ter",
        "hgvsWellDefined": "XP_011526271.1:p.Ser361_Pro734delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "C",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527970.2:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526272.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526272.1:p.Ser372_Tyr725delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysThrArgArgAlaThrIleSerIleThrThrAlaGlyTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527971.3:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526273.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526273.1:p.Ser372_Met713delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527972.3:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526274.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526274.1:p.Ser372_Arg711delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527973.2:c.995C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526275.1:p.Ser332Ter",
        "hgvsWellDefined": "XP_011526275.1:p.Ser332_Pro705delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527974.2:c.983C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526276.1:p.Ser328Ter",
        "hgvsWellDefined": "XP_011526276.1:p.Ser328_Pro701delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527975.2:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526277.1:p.Ser361Ter",
        "hgvsWellDefined": "XP_011526277.1:p.Ser361_Arg700delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527976.2:c.1115C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526278.1:p.Ser372Ter",
        "hgvsWellDefined": "XP_011526278.1:p.Ser372_Gln601delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleAlaThrGlyGlnValGlySerValValSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_011527977.2:c.1082C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526279.1:p.Ser361Ter",
        "hgvsWellDefined": "XP_011526279.1:p.Ser361_Phe421delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrAspGlyMetIleSerAlaHisCysAsnLeuArgLeuProAspSerArgAspSerProAlaSerAlaSerArgValAlaGlyIleThrGlyIleCysHisHisThrArgLeuIleLeuTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "XM_017026762.1:c.380C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882251.1:p.Ser127Ter",
        "hgvsWellDefined": "XP_016882251.1:p.Ser127_Pro500delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgHisGluGluArgLeuSerGlnSerGlnArgLeuValIleLysHisLeuTrpHisThrGlnProIleProSerThrHisMetIleProTyrGlnIleProThrThrThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826773191",
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_001290023.2:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276952.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_001276952.1:p.Ser321_Arg660delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829597208",
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_005535.3:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005526.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_005526.1:p.Ser321_Met662delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrGluProValAlaLeuAsnIleSerValGlyThrAsnGlyThrThrMetTyrTrpProAlaArgAlaGlnSerMetThrTyrCysIleGluTrpGlnProValGlyGlnAspGlyGlyLeuAlaThrCysSerLeuThrAlaProGlnAspProAspProAlaGlyMetAlaThrTyrSerTrpSerArgGluSerGlyAlaMetGlyGlnGluLysCysTyrTyrIleThrIlePheAlaSerAlaHisProGluLysLeuThrLeuTrpSerThrValLeuSerThrTyrHisPheGlyGlyAsnAlaSerAlaAlaGlyThrProHisHisValSerValLysAsnHisSerLeuAspSerValSerValAspTrpAlaProSerLeuLeuSerThrCysProGlyValLeuLysGluTyrValValArgCysArgAspGluAspSerLysGlnValSerGluHisProValGlnProThrGluThrGlnValThrLeuSerGlyLeuArgAlaGlyValAlaTyrThrValGlnValArgAlaAspThrAlaTrpLeuArgGlyValTrpSerGlnProGlnArgPheSerIleGluValGlnValSerAspTrpLeuIlePhePheAlaSerLeuGlySerPheLeuSerIleLeuLeuValGlyValLeuGlyTyrLeuGlyLeuAsnArgAlaAlaArgHisLeuCysProProLeuProThrProCysAlaSerSerAlaIleGluPheProGlyGlyLysGluThrTrpGlnTrpIleAsnProValAspPheGlnGluGluAlaSerLeuGlnGluAlaLeuValValGluMetSerTrpAspLysGlyGluArgThrGluProLeuGluLysThrGluLeuProGluGlyAlaProGluLeuAlaLeuAspThrGluLeuSerLeuGluAspGlyAspArgCysLysAlaLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000593993.7:c.962C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005535.3:c.962C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000472165.2:p.Ser321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005526.1:p.Ser321Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830333892",
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005971",
      "geneNCBI_id": 3594,
      "geneSymbol": "IL12RB1",
      "hgvs": [
        "NM_153701.3:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714912.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_714912.1:p.Ser321_Phe381delinsAsnGlnPheGlyProGlyLeuAsnGlnThrTrpHisIleProAlaAspThrHisThrAspGlyMetIleSerAlaHisCysAsnLeuArgLeuProAspSerArgAspSerProAlaSerAlaSerArgValAlaGlyIleThrGlyIleCysHisHisThrArgLeuIleLeuTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700390"
    }
  ],
  "type": "nucleotide"
}