presentation_241030_necker/Images/THETE_stats.json

{
  "consequences": [
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    {
      "intergenic_variant": 5591,
      "splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant": 2,
      "splice_region_variant,non_coding_transcript_exon_variant": 4,
      "splice_donor_variant,non_coding_transcript_variant": 2,
      "5_prime_UTR_variant": 5,
      "intron_variant,non_coding_transcript_variant": 1341,
      "feature_elongation,intron_variant": 3,
      "synonymous_variant": 32,
      "intron_variant": 3613,
      "inframe_insertion": 2,
      "missense_variant": 29,
      "splice_donor_5th_base_variant,intron_variant,non_coding_transcript_variant": 2,
      "frameshift_variant": 3,
      "stop_gained": 2,
      "splice_polypyrimidine_tract_variant,intron_variant": 6,
      "3_prime_UTR_variant": 75,
      "splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant": 5,
      "missense_variant,splice_region_variant": 2,
      "downstream_gene_variant": 686,
      "non_coding_transcript_exon_variant": 79,
      "upstream_gene_variant": 699,
      "splice_acceptor_variant": 2,
      "feature_elongation,intron_variant,non_coding_transcript_variant": 2,
      "splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant": 2,
      "transcript_ablation": 2
    }
  ],
  "ncbi_features": [
    598,
    {
      "repeat_instability_region": 8,
      "biological_region": 287,
      "mitotic_recombination_region": 5,
      "meiotic_recombination_region": 14,
      "mobile_genetic_element": 2,
      "silencer": 10,
      "matrix_attachment_site": 2,
      "DNaseI_hypersensitive_site": 4,
      "protein_binding_site": 2,
      "promoter": 2,
      "minisatellite": 5,
      "antisense_RNA": 5,
      "enhancer": 264,
      "non_allelic_homologous_recombination_region": 2
    }
  ],
  "callers_cat": [
    12166,
    {
      "Nanomonsv": 16,
      "ClairS": 420,
      "Sniffles": 148,
      "ClairS,DeepVariant": 3184,
      "DeepVariant": 8403
    }
  ],
  "cosmic_sup_1": 13,
  "n_total": 7964323,
  "n_constit": 3504804,
  "n_tumoral": 4458549,
  "n_constit_first": 2329315,
  "n_loh_first": 3474,
  "n_low_mrd_depth_first": 1070325,
  "n_constit_sec": 128065,
  "n_low_diversity_sec": 183528,
  "n_low_mrd_depth_sec": 718656,
  "n_somatic_sec": 24331
}