--- 
- 
  allele_string: C/T
  assembly_name: GRCh37
  colocated_variants: 
    - 
      allele_string: C/A/T
      clin_sig: 
        - uncertain_significance
      clin_sig_allele: T:uncertain_significance
      end: 69514131
      frequencies: 
        T: 
          af: '0.0002'
          afr: 0
          amr: 0
          eas: 0
          eur: '0.001'
          gnomade: '0.0002846'
          gnomade_afr: 0
          gnomade_amr: '6.708e-05'
          gnomade_asj: 0
          gnomade_eas: 0
          gnomade_fin: '0.0006178'
          gnomade_mid: '0.0001734'
          gnomade_nfe: '0.000321'
          gnomade_remaining: '0.000149'
          gnomade_sas: '0.0001507'
          gnomadg: '0.0002561'
          gnomadg_afr: '2.406e-05'
          gnomadg_ami: 0
          gnomadg_amr: 0
          gnomadg_asj: 0
          gnomadg_eas: 0
          gnomadg_fin: '0.0005647'
          gnomadg_mid: 0
          gnomadg_nfe: '0.0004556'
          gnomadg_remaining: 0
          gnomadg_sas: '0.0002079'
          sas: 0
      id: rs199891170
      phenotype_or_disease: 1
      seq_region_name: 11
      start: 69514131
      strand: 1
      var_synonyms: 
        ClinVar: 
          - RCV002945297
          - VCV002341241
  end: 69514131
  id: 11:g.69514130_69514131delinsTT
  input: 11:g.69514130_69514131delinsTT
  most_severe_consequence: missense_variant
  seq_region_name: 11
  start: 69514131
  strand: 1
  transcript_consequences: 
    - 
      amino_acids: E/K
      biotype: protein_coding
      cdna_end: 1316
      cdna_start: 1316
      cds_end: 550
      cds_start: 550
      codons: Gaa/Aaa
      consequence_terms: 
        - missense_variant
      gene_id: ENSG00000162344
      gene_symbol: FGF19
      gene_symbol_source: HGNC
      hgnc_id: 3675
      impact: MODERATE
      polyphen_prediction: benign
      polyphen_score: '0.005'
      protein_end: 184
      protein_start: 184
      sift_prediction: tolerated
      sift_score: '0.14'
      strand: -1
      transcript_id: ENST00000294312
      variant_allele: T