--- 
- 
  allele_string: T/C
  assembly_name: GRCh37
  colocated_variants: 
    - 
      allele_string: HGMD_MUTATION
      end: 10042757
      id: CM127762
      phenotype_or_disease: 1
      seq_region_name: 1
      start: 10042757
      strand: 1
    - 
      allele_string: T/C
      clin_sig: 
        - pathogenic
      clin_sig_allele: C:pathogenic
      end: 10042757
      frequencies: 
        C: 
          gnomade: '1.384e-06'
          gnomade_afr: 0
          gnomade_amr: 0
          gnomade_asj: 0
          gnomade_eas: 0
          gnomade_fin: 0
          gnomade_mid: 0
          gnomade_nfe: '1.812e-06'
          gnomade_remaining: 0
          gnomade_sas: 0
      id: rs387907290
      phenotype_or_disease: 1
      pubmed: 
        - 22842230
        - 12734549
      seq_region_name: 1
      start: 10042757
      strand: 1
      var_synonyms: 
        ClinVar: 
          - RCV000030763
          - VCV000037132
        OMIM: 
          - '608700.0001'
  end: 10042757
  id: 1:g.10042757T>C
  input: 1:g.10042757T>C
  most_severe_consequence: stop_lost
  seq_region_name: 1
  start: 10042757
  strand: 1
  transcript_consequences: 
    - 
      amino_acids: "*/Q"
      biotype: protein_coding
      cdna_end: 982
      cdna_start: 982
      cds_end: 838
      cds_start: 838
      codons: Tag/Cag
      consequence_terms: 
        - stop_lost
      gene_id: ENSG00000173614
      gene_symbol: NMNAT1
      gene_symbol_source: HGNC
      hgnc_id: 17877
      impact: HIGH
      protein_end: 280
      protein_start: 280
      strand: 1
      transcript_id: ENST00000377205
      variant_allele: C
    - 
      biotype: protein_coding
      consequence_terms: 
        - downstream_gene_variant
      distance: 933
      gene_id: ENSG00000173614
      gene_symbol: NMNAT1
      gene_symbol_source: HGNC
      hgnc_id: 17877
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000403197
      variant_allele: C
    - 
      biotype: sense_intronic
      consequence_terms: 
        - upstream_gene_variant
      distance: 442
      gene_id: ENSG00000241326
      gene_symbol: RP11-807G9.2
      gene_symbol_source: Clone_based_vega_gene
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000413148
      variant_allele: C
    - 
      amino_acids: "*/Q"
      biotype: nonsense_mediated_decay
      cdna_end: 981
      cdna_start: 981
      cds_end: 838
      cds_start: 838
      codons: Tag/Cag
      consequence_terms: 
        - stop_lost
        - NMD_transcript_variant
      gene_id: ENSG00000173614
      gene_symbol: NMNAT1
      gene_symbol_source: HGNC
      hgnc_id: 17877
      impact: HIGH
      protein_end: 280
      protein_start: 280
      strand: 1
      transcript_id: ENST00000462686
      variant_allele: C
    - 
      biotype: protein_coding
      consequence_terms: 
        - intron_variant
      flags: 
        - cds_start_NF
      gene_id: ENSG00000173614
      gene_symbol: NMNAT1
      gene_symbol_source: HGNC
      hgnc_id: 17877
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000496751
      variant_allele: C