{ "genotype": { "recessiveMode": "RECESSIVE_MODE_DISABLED", "sampleGenotypes": [ { "sample": "Case_1_index-N1-DNA1-WGS1", "genotype": "GENOTYPE_CHOICE_ANY", "enabled": true }, { "sample": "Case_1_father-N1-DNA1-WGS1", "genotype": "GENOTYPE_CHOICE_ANY", "enabled": true }, { "sample": "Case_1_mother-N1-DNA1-WGS1", "genotype": "GENOTYPE_CHOICE_ANY", "enabled": true } ] }, "quality": { "sampleQualities": [ { "sample": "Case_1_index-N1-DNA1-WGS1", "filterActive": true, "minDpHet": 10, "minDpHom": 5, "minGq": 10, "minAb": 0.2, "minAd": 3 }, { "sample": "Case_1_father-N1-DNA1-WGS1", "filterActive": true, "minDpHet": 10, "minDpHom": 5, "minGq": 10, "minAb": 0.2, "minAd": 3 }, { "sample": "Case_1_mother-N1-DNA1-WGS1", "filterActive": true, "minDpHet": 10, "minDpHom": 5, "minGq": 10, "minAb": 0.2, "minAd": 3 } ] }, "frequency": { "gnomadExomes": { "enabled": true, "maxHet": 1, "maxHom": 0, "maxAf": 0.002 }, "gnomadGenomes": { "enabled": true, "maxHet": 1, "maxHom": 0, "maxAf": 0.002 }, "gnomadMtdna": {}, "helixmtdb": {}, "inhouse": { "enabled": true, "maxCarriers": 20 } }, "consequence": { "variantTypes": [ "VARIANT_TYPE_SNV", "VARIANT_TYPE_INDEL", "VARIANT_TYPE_MNV", "VARIANT_TYPE_COMPLEX_SUBSTITUTION" ], "transcriptTypes": [ "TRANSCRIPT_TYPE_CODING" ], "consequences": [ "CONSEQUENCE_TRANSCRIPT_ABLATION", "CONSEQUENCE_EXON_LOSS_VARIANT", "CONSEQUENCE_SPLICE_ACCEPTOR_VARIANT", "CONSEQUENCE_SPLICE_DONOR_VARIANT", "CONSEQUENCE_STOP_GAINED", "CONSEQUENCE_FRAMESHIFT_VARIANT", "CONSEQUENCE_STOP_LOST", "CONSEQUENCE_START_LOST", "CONSEQUENCE_TRANSCRIPT_AMPLIFICATION", "CONSEQUENCE_DISRUPTIVE_INFRAME_INSERTION", "CONSEQUENCE_DISRUPTIVE_INFRAME_DELETION", "CONSEQUENCE_CONSERVATIVE_INFRAME_INSERTION", "CONSEQUENCE_CONSERVATIVE_INFRAME_DELETION", "CONSEQUENCE_MISSENSE_VARIANT", "CONSEQUENCE_SPLICE_DONOR_FIFTH_BASE_VARIANT", "CONSEQUENCE_SPLICE_REGION_VARIANT", "CONSEQUENCE_SPLICE_DONOR_REGION_VARIANT", "CONSEQUENCE_SPLICE_POLYPYRIMIDINE_TRACT_VARIANT" ] }, "locus": {}, "clinvar": {} }