{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA150644",
  "communityStandardTitle": [
    "NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106641[alleleid]",
        "alleleId": 106641,
        "preferredName": "NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100775",
        "RCV": [
          "RCV000087139"
        ],
        "variationId": 100775
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.425739G>A?assembly=hg19",
        "id": "chr20:g.425739G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.445095G>A?assembly=hg38",
        "id": "chr20:g.445095G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777158",
        "rs": 587777158
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 445095,
          "referenceAllele": "G",
          "start": 445094
        }
      ],
      "hgvs": [
        "NC_000020.11:g.445095G>A",
        "CM000682.2:g.445095G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 425739,
          "referenceAllele": "G",
          "start": 425738
        }
      ],
      "hgvs": [
        "NC_000020.10:g.425739G>A",
        "CM000682.1:g.425739G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 373739,
          "referenceAllele": "G",
          "start": 373738
        }
      ],
      "hgvs": [
        "NC_000020.9:g.373739G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22459,
          "referenceAllele": "C",
          "start": 22458
        }
      ],
      "hgvs": [
        "NG_034082.1:g.22459C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000354200.5:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346139.4:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000346139.4:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354200.5:c.292C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144628.4:c.292C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346139.4:p.Gln98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653229.1:p.Gln98Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 2794,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000461188.6:n.212+2794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000679451.1:n.391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000679741.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504904.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000504904.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000679895.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505197.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000505197.1:p.Gln98_Pro435delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnArgLeuGluCysAsnGlyMetIleLeuAlaHisCysAsnLeuTyrLeuProGlySerSerAspSerSerAlaSerAlaSerSerSerTrpAspTyrSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000679944.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506278.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506278.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000679953.1:n.391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000679973.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506502.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506502.1:p.Gln98_Pro379delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680050.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505464.1:p.Gln36Ter",
        "hgvsWellDefined": "ENSP00000505464.1:p.Gln36_Pro341delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680088.1:n.437C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680106.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505500.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000505500.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680284.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506231.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506231.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680491.1:n.418C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680515.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506650.1:p.Gln36Ter",
        "hgvsWellDefined": "ENSP00000506650.1:p.Gln36_Pro341delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680521.1:n.391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680792.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506012.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506012.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680911.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506556.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506556.1:p.Gln98_Pro379delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000680990.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506050.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506050.1:p.Gln98_Leu126delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyHisGluGluArgArgIleAlaLysGlyAsnArgSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681129.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505329.1:p.Gln36Ter",
        "hgvsWellDefined": "ENSP00000505329.1:p.Gln36_Pro341delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681389.1:n.426C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "endIntronDirection": "+",
          "endIntronOffset": 2794,
          "referenceAllele": "C",
          "start": 367,
          "startIntronDirection": "+",
          "startIntronOffset": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681414.1:c.256+2794C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505797.1:n.256+2794C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681441.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504992.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000504992.1:p.Gln98_Gln177delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681539.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505557.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000505557.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681551.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504974.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000504974.1:p.Gln98_Pro378delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681636.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506155.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506155.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681742.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506122.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506122.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000681777.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506511.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000506511.1:p.Gln98_Cys199delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000354200.4:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346139.4:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000346139.4:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000461304.5:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432280.1:p.Gln98Ter",
        "hgvsWellDefined": "ENSP00000432280.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "ENST00000494633.1:n.430C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150645",
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "NM_144628.3:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653229.1:p.Gln98Ter",
        "hgvsWellDefined": "NP_653229.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "NR_111901.1:n.440C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "XM_005260661.1:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260718.1:p.Gln98Ter",
        "hgvsWellDefined": "XP_005260718.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "XM_006723540.2:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723603.1:p.Gln36Ter",
        "hgvsWellDefined": "XP_006723603.1:p.Gln36_Pro341delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "XM_006723540.3:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723603.1:p.Gln36Ter",
        "hgvsWellDefined": "XP_006723603.1:p.Gln36_Pro341delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "XM_017027645.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883134.1:p.Gln36Ter",
        "hgvsWellDefined": "XP_016883134.1:p.Gln36_Pro341delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150645",
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "NM_144628.4:c.292C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653229.1:p.Gln98Ter",
        "hgvsWellDefined": "NP_653229.1:p.Gln98_Pro403delinsValLeuLeuAspValArgArgSerLeuArgArgPheProProGlyMetProGluGluGlnArgGluGlyLeuGlnGluGluLeuIleAspIleIleLeuLeuIleLeuGluArgAsnProGlnLeuHisTyrTyrGlnGlyTyrHisAspIleValValThrPheLeuLeuValValGlyGluArgLeuAlaThrSerLeuValGluLysLeuSerThrHisHisLeuArgAspPheMetAspProThrMetAspAsnThrLysHisIleLeuAsnTyrLeuMetProIleIleAspGlnValAsnProGluLeuHisAspPheMetGlnSerAlaGluValGlyThrIlePheAlaLeuSerTrpLeuIleThrTrpPheGlyHisValLeuSerAspPheArgHisValValArgLeuTyrAspPhePheLeuAlaCysHisProLeuMetProIleTyrPheAlaAlaValIleValLeuTyrArgGluGlnGluValLeuAspCysAspCysAspMetAlaSerValHisHisLeuLeuSerGlnIleProGlnAspLeuProTyrGluThrLeuIleSerArgAlaGlyAspLeuPheValGlnPheProProSerGluLeuAlaArgGluAlaAlaAlaGlnGlnGlnAlaGluArgThrAlaAlaSerThrPheLysAspPheGluLeuAlaSerAlaGlnGlnArgProAspMetValLeuArgGlnArgPheArgGlyLeuLeuArgProGluAspArgThrLysAspValLeuThrLysProArgThrAsnArgPheValLysLeuAlaValMetGlyLeuThrValAlaLeuGlyAlaAlaAlaLeuAlaValValLysSerAlaLeuGluTrpAlaProLysPheGlnLeuGlnLeuPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672045",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354200.5:c.292C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144628.4:c.292C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346139.4:p.Gln98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653229.1:p.Gln98Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016133",
      "geneNCBI_id": 128637,
      "geneSymbol": "TBC1D20",
      "hgvs": [
        "NR_111901.2:n.420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703166"
    }
  ],
  "type": "nucleotide"
}