File Info

Filename
variant_qc.json
Full Path
s3://natera-rnd-pltf-dev-nextflow-data-01/users/mipeters/semiproductionize/sarek/698115e9/test_regression_infra_70d9bc7c/reports/variant_qc.json
Size
3.5 KB
Published
Feb 02, 2026 1:51 PM
{
  "metadata": {
    "version": "1.0",
    "mode": "variant",
    "tools": [
      "contamination",
      "ngscheckmate",
      "bcftools",
      "snpeff"
    ]
  },
  "pairs": {
    "HCC1395_tumor_vs_HCC1395_BL": {
      "tumor_sample": "HCC1395_tumor",
      "normal_sample": "HCC1395_BL",
      "contamination": {
        "normal_contamination_pct": 0.007,
        "tumor_contamination_pct": 0.262
      },
      "sample_identity": {
        "tumor_normal_correlation": 0.98,
        "matched": true
      },
      "callers": {
        "mutect2": {
          "num_snps": 28,
          "num_indels": 14,
          "num_mnps": 3,
          "ts_tv_ratio": 1.33,
          "substitutions": {
            "A>C": 2,
            "A>G": 2,
            "A>T": 1,
            "C>A": 3,
            "C>G": 0,
            "C>T": 8,
            "G>A": 4,
            "G>C": 2,
            "G>T": 4,
            "T>A": 0,
            "T>C": 2,
            "T>G": 0
          },
          "snpeff": {
            "missense_silent_ratio": 1.375,
            "impact_high": 0,
            "impact_moderate": 0,
            "impact_low": 0,
            "impact_modifier": 0
          }
        },
        "tnseq": {
          "num_snps": 275,
          "num_indels": 25,
          "num_mnps": 6,
          "ts_tv_ratio": 3.44,
          "substitutions": {
            "A>C": 5,
            "A>G": 48,
            "A>T": 4,
            "C>A": 9,
            "C>G": 10,
            "C>T": 55,
            "G>A": 59,
            "G>C": 18,
            "G>T": 10,
            "T>A": 1,
            "T>C": 51,
            "T>G": 5
          },
          "snpeff": {
            "missense_silent_ratio": 0.89916,
            "impact_high": 0,
            "impact_moderate": 0,
            "impact_low": 0,
            "impact_modifier": 0
          }
        }
      }
    },
    "Sig_18_tissue_vs_Sig_18_Blood": {
      "tumor_sample": "Sig_18_tissue",
      "normal_sample": "Sig_18_Blood",
      "contamination": {
        "normal_contamination_pct": 0.026,
        "tumor_contamination_pct": 0.055
      },
      "sample_identity": {
        "tumor_normal_correlation": 0.9901,
        "matched": true
      },
      "callers": {
        "mutect2": {
          "num_snps": 37,
          "num_indels": 32,
          "num_mnps": 1,
          "ts_tv_ratio": 2.17,
          "substitutions": {
            "A>C": 1,
            "A>G": 4,
            "A>T": 0,
            "C>A": 1,
            "C>G": 3,
            "C>T": 6,
            "G>A": 10,
            "G>C": 2,
            "G>T": 4,
            "T>A": 1,
            "T>C": 6,
            "T>G": 0
          },
          "snpeff": {
            "missense_silent_ratio": 1.25,
            "impact_high": 0,
            "impact_moderate": 0,
            "impact_low": 0,
            "impact_modifier": 0
          }
        },
        "tnseq": {
          "num_snps": 314,
          "num_indels": 47,
          "num_mnps": 5,
          "ts_tv_ratio": 3.09,
          "substitutions": {
            "A>C": 8,
            "A>G": 54,
            "A>T": 5,
            "C>A": 8,
            "C>G": 13,
            "C>T": 60,
            "G>A": 66,
            "G>C": 19,
            "G>T": 12,
            "T>A": 5,
            "T>C": 58,
            "T>G": 7
          },
          "snpeff": {
            "missense_silent_ratio": 1.04065,
            "impact_high": 0,
            "impact_moderate": 0,
            "impact_low": 0,
            "impact_modifier": 0
          }
        }
      }
    }
  }
}