{ "consequences": [ "chromosome_number_variation", "exon_loss_variant", "frameshift_variant", "rare_amino_acid_variant", "splice_acceptor_variant", "splice_donor_variant", "start_lost", "stop_gained", "stop_lost", "transcript_ablation", "3_prime_UTR_truncation", "5_prime_UTR_truncation", "conservative_inframe_deletion", "conservative_inframe_insertion", "disruptive_inframe_deletion", "disruptive_inframe_insertion", "missense_variant", "regulatory_region_ablation", "splice_region_variant", "TFBS_ablation", "5_prime_UTR_premature_start_codon_gain_variant", "initiator_codon_variant", "start_retained", "stop_retained_variant", "synonymous_variant", "3_prime_UTR_variant", "5_prime_UTR_variant", "coding_sequence_variant", "conserved_intergenic_variant", "conserved_intron_variant", "downstream_gene_variant", "exon_variant", "feature_elongation", "feature_truncation", "gene_variant", "intergenic_variant", "intron_variant", "mature_miRNA_variant", "miRNA", "NMD_transcript_variant", "non_coding_transcript_exon_variant", "non_coding_transcript_intron_variant", "regulatory_region_amplification", "regulatory_region_variant", "TF_binding_site_variant", "TFBS_amplification", "transcript_amplification", "transcript_variant", "upstream_gene_variant" ], "gnomad_exomes_enabled": true, "gnomad_genomes_enabled": true, "inhouse_enabled": true, "helixmtdb_enabled": true, "quality": { "sample": { "dp_het": 10, "dp_hom": 5, "gq": 10, "ab": 0.2, "ad": 3, "ad_max": null, "filter_active": "drop-variant" } }, "genotype": { "sample": "het" }, "selected_variants": null, "transcripts_coding": true, "transcripts_noncoding": true, "var_type_snv": true, "var_type_indel": true, "var_type_mnv": true, "max_exon_dist": 100, "gene_allowlist": null, "genomic_regions": null, "require_in_clinvar": false, "clinvar_include_benign": false, "clinvar_include_pathogenic": true, "clinvar_include_likely_benign": false, "clinvar_include_likely_pathogenic": true, "clinvar_include_uncertain_significance": false, "gnomad_exomes_frequency": 0.002, "gnomad_exomes_heterozygous": 20, "gnomad_exomes_homozygous": 0, "gnomad_exomes_hemizygous": null, "gnomad_genomes_frequency": 0.002, "gnomad_genomes_heterozygous": 4, "gnomad_genomes_homozygous": 0, "gnomad_genomes_hemizygous": null, "inhouse_carriers": 20, "inhouse_heterozygous": null, "inhouse_homozygous": null, "inhouse_hemizygous": null, "helixmtdb_frequency": 0.01, "helixmtdb_heterozygous": null, "helixmtdb_homozygous": null }