{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342914",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2058_2059delinsAT (p.Arg687Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42011980_42011981delinsAT?assembly=hg19",
        "id": "chr7:g.42011980_42011981delinsAT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41972381_41972382delinsAT?assembly=hg38",
        "id": "chr7:g.41972381_41972382delinsAT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840746",
        "rs": 116840746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "AT",
          "end": 41972382,
          "referenceAllele": "CC",
          "start": 41972380
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41972381_41972382delinsAT",
        "CM000669.2:g.41972381_41972382delinsAT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "AT",
          "end": 42011981,
          "referenceAllele": "CC",
          "start": 42011979
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42011980_42011981delinsAT",
        "CM000669.1:g.42011980_42011981delinsAT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "AT",
          "end": 41978506,
          "referenceAllele": "CC",
          "start": 41978504
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41978505_41978506delinsAT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 269639,
          "referenceAllele": "GG",
          "start": 269637
        }
      ],
      "hgvs": [
        "NG_008434.1:g.269638_269639delinsAT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2340,
          "referenceAllele": "GG",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg687Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2058_2059delinsAT"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2058_2059delinsAT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg687Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg687Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2016,
          "referenceAllele": "GG",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1884_1885delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Arg629Ter",
        "hgvsWellDefined": "ENSP00000503986.1:p.Glu630_Gln1522delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2158,
          "referenceAllele": "GG",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Arg687Ter",
        "hgvsWellDefined": "ENSP00000503743.1:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2172,
          "referenceAllele": "GG",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Arg687Ter",
        "hgvsWellDefined": "ENSP00000502957.1:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2144,
          "referenceAllele": "GG",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg687Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2036,
          "referenceAllele": "GG",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2035_2036delinsAT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2150,
          "referenceAllele": "GG",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg687Ter",
        "hgvsWellDefined": "NP_000159.3:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2188,
          "referenceAllele": "GG",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Arg687Ter",
        "hgvsWellDefined": "XP_005249760.1:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2377,
          "referenceAllele": "GG",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Arg687Ter",
        "hgvsWellDefined": "XP_005249761.1:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2167,
          "referenceAllele": "GG",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Arg687Ter",
        "hgvsWellDefined": "XP_011513574.1:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2220,
          "referenceAllele": "GG",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Arg687Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2036,
          "referenceAllele": "GG",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1881_1882delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg628Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Glu629_Gln1521delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 4774,
          "referenceAllele": "GG",
          "start": 4772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1881_1882delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg628Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Glu629_Gln1521delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 4807,
          "referenceAllele": "GG",
          "start": 4805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2055_2056delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Arg686Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Glu687_Gln1579delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2340,
          "referenceAllele": "GG",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2058_2059delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg687Ter",
        "hgvsWellDefined": "NP_000159.3:p.Glu688_Gln1580delinsCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2058_2059delinsAT"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2058_2059delinsAT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg687Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg687Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}