Variant Lookup Schema
Description of properties returned when querying the API for a variant
GET /lookup/schema
{
"title": "Variant Lookup Schema",
"description": "Description of properties returned when querying the API for a variant",
"type": "object",
"properties": {
"original_variant": {
"type": "string",
"required": false,
"read_only": false,
"label": "Original variant"
},
"chromosome": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromosome"
},
"alt": {
"type": "string",
"required": false,
"read_only": false,
"label": "ALT Sequence"
},
"ref": {
"type": "string",
"required": false,
"read_only": false,
"label": "REF Sequence"
},
"pos": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
},
"variant_id": {
"type": "string",
"required": false,
"read_only": false,
"label": "Variant Id"
},
"regions": {
"type": "object",
"title": "Regions",
"properties": {
"uniprot_regions": {
"type": "object",
"title": "Uniprot Regions",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "Uniprot regions entries",
"items": {
"type": "object",
"properties": {
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute positon"
},
"amino_acid": {
"type": "string",
"required": false,
"read_only": false,
"label": "Amino acid"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromo"
},
"colour": {
"type": "string",
"required": false,
"read_only": false,
"label": "Colour"
},
"description": {
"type": "string",
"required": false,
"read_only": false,
"label": "Description"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
},
"protein": {
"type": "string",
"required": false,
"read_only": false,
"label": "Protein"
},
"type": {
"type": "string",
"required": false,
"read_only": false,
"label": "Type"
},
"pub_med_references": {
"type": "list",
"required": false,
"read_only": false,
"label": "Pub Med references",
"items": {
"type": "integer"
}
}
}
}
}
}
},
"clinvarcnv": {
"type": "object",
"title": "ClinVar CNVs",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "ClinVar CNV entries",
"items": {
"type": "object",
"properties": {
"clinvarregionjson": {
"type": "object",
"title": "ClinVar region json",
"properties": {
"accessions": {
"type": "array",
"title": "Accessions",
"items": {
"type": "object",
"properties": {
"variation_id": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Variation ID"
},
"submissions": {
"type": "array",
"title": "Submissions",
"items": {
"type": "object",
"properties": {
"submitter_name": {
"type": "string",
"required": false,
"read_only": false,
"label": "Submitter name"
},
"submitter_date": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Submitter date"
},
"review_description": {
"type": "string",
"required": false,
"read_only": false,
"label": "Review description"
},
"review_status": {
"type": "string",
"required": false,
"read_only": false,
"label": "Review status"
},
"review_date": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Review date"
},
"submission_description": {
"type": "list",
"required": false,
"read_only": false,
"label": "Submission description",
"items": {
"type": "string"
}
},
"accession_id": {
"type": "string",
"required": false,
"read_only": false,
"label": "Accession ID"
},
"clinical_significance": {
"type": "list",
"required": false,
"read_only": false,
"label": "Clinical significance",
"items": {
"type": "string"
}
},
"diseases": {
"type": "array",
"title": "Diseases",
"items": {
"type": "object",
"properties": {
"symbols": {
"type": "list",
"required": false,
"read_only": false,
"label": "Symbols",
"items": {
"type": "string"
}
},
"normalized_disease": {
"type": "list",
"required": false,
"read_only": false,
"label": "Normalized disease",
"items": {
"type": "string"
}
},
"names": {
"type": "list",
"required": false,
"read_only": false,
"label": "Names",
"items": {
"type": "string"
}
},
"normalized_cancer": {
"type": "list",
"required": false,
"read_only": false,
"label": "Normalized cancer",
"items": {
"type": "string"
}
}
}
}
},
"method": {
"type": "string",
"required": false,
"read_only": false,
"label": "Method"
},
"date_updated": {
"type": "string",
"required": false,
"read_only": false,
"label": "Date updated"
},
"origin": {
"type": "string",
"required": false,
"read_only": false,
"label": "Origin"
}
}
}
},
"review_stars": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Review stars"
},
"review_description": {
"type": "string",
"required": false,
"read_only": false,
"label": "Review description"
},
"allele_id": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele ID"
},
"submission_description": {
"type": "list",
"required": false,
"read_only": false,
"label": "Submission description",
"items": {
"type": "string"
}
},
"accession_id": {
"type": "string",
"required": false,
"read_only": false,
"label": "Accession ID"
},
"clinical_significance": {
"type": "list",
"required": false,
"read_only": false,
"label": "Clinical significance",
"items": {
"type": "string"
}
},
"date_created": {
"type": "string",
"required": false,
"read_only": false,
"label": "Date created"
},
"diseases": {
"type": "array",
"title": "Diseases",
"items": {
"type": "object",
"properties": {
"pub_med_references": {
"type": "list",
"required": false,
"read_only": false,
"label": "Pub med references",
"items": {
"type": "integer"
}
},
"symbols": {
"type": "list",
"required": false,
"read_only": false,
"label": "Symbols",
"items": {
"type": "string"
}
},
"normalized_cancer": {
"type": "list",
"required": false,
"read_only": false,
"label": "Normalized cancer",
"items": {
"type": "string"
}
},
"keyword": {
"type": "string",
"required": false,
"read_only": false,
"label": "Keyword"
},
"disease_mechanism": {
"type": "string",
"required": false,
"read_only": false,
"label": "Disease mechanism"
},
"normalized_disease": {
"type": "list",
"required": false,
"read_only": false,
"label": "Normalized disease",
"items": {
"type": "string"
}
},
"names": {
"type": "list",
"required": false,
"read_only": false,
"label": "Names",
"items": {
"type": "string"
}
}
}
}
},
"title": {
"type": "string",
"required": false,
"read_only": false,
"label": "Title"
},
"review_status": {
"type": "string",
"required": false,
"read_only": false,
"label": "Review status"
},
"review_date": {
"type": "string",
"required": false,
"read_only": false,
"label": "Review date"
}
}
}
},
"acmg_class": {
"type": "string",
"required": false,
"read_only": false,
"label": "ACMG class"
},
"allele_id": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele ID"
},
"clinical_significance": {
"type": "list",
"required": false,
"read_only": false,
"label": "Clinical significance",
"items": {
"type": "string"
}
},
"date_created": {
"type": "string",
"required": false,
"read_only": false,
"label": "Date created"
},
"last_evaluation": {
"type": "string",
"required": false,
"read_only": false,
"label": "Last evaluation"
},
"names": {
"type": "list",
"required": false,
"read_only": false,
"label": "Names",
"items": {
"type": "string"
}
},
"num_submissions": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of submissions"
},
"num_submitters": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of submitters"
},
"review_stars": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Review stars"
},
"review_status": {
"type": "string",
"required": false,
"read_only": false,
"label": "Review status"
},
"type": {
"type": "string",
"required": false,
"read_only": false,
"label": "Type"
},
"variation_id": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Variation ID"
}
}
},
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute position"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromosome"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
}
}
}
}
}
},
"decipher": {
"type": "object",
"title": "Sanger Decipher",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "Sanger decipher details",
"items": {
"type": "object",
"properties": {
"json": {
"type": "object",
"title": "Json",
"properties": {
"contribution": {
"type": "string",
"required": false,
"read_only": false,
"label": "Contribution"
},
"genotype": {
"type": "string",
"required": false,
"read_only": false,
"label": "Genotype"
},
"inheritance": {
"type": "string",
"required": false,
"read_only": false,
"label": "Inheritance"
},
"mean_ratio": {
"type": "float",
"required": false,
"read_only": false,
"label": "Mean Ratio"
},
"normalized_phenotype": {
"type": "list",
"required": false,
"read_only": false,
"label": "Normalized phenotype",
"items": {
"type": "string"
}
},
"pathogenicity": {
"type": "string",
"required": false,
"read_only": false,
"label": "Pathogenicity"
},
"phenotypes": {
"type": "list",
"required": false,
"read_only": false,
"label": "Phenotypes",
"items": {
"type": "string"
}
},
"variant_class": {
"type": "string",
"required": false,
"read_only": false,
"label": "Variant Class"
},
"variant_type": {
"type": "string",
"required": false,
"read_only": false,
"label": "Variant Type"
}
}
},
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute position"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromosome"
},
"colour": {
"type": "string",
"required": false,
"read_only": false,
"label": "Colour"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
}
}
}
}
}
},
"ncbi_dbVar": {
"type": "object",
"title": "NCBIDbVar",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "NCBI dbVar entries",
"items": {
"type": "object",
"properties": {
"ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AC"
},
"af": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AF"
},
"clnacc": {
"type": "string",
"required": false,
"read_only": false,
"label": "CLNACC"
},
"clnsig": {
"type": "string",
"required": false,
"read_only": false,
"label": "CLNSIG"
},
"desc": {
"type": "string",
"required": false,
"read_only": false,
"label": "DESC"
},
"experiment": {
"type": "integer",
"required": false,
"read_only": false,
"label": "EXPERIMENT"
},
"links": {
"type": "string",
"required": false,
"read_only": false,
"label": "LINKS"
},
"origin": {
"type": "string",
"required": false,
"read_only": false,
"label": "ORIGIN"
},
"regionid": {
"type": "string",
"required": false,
"read_only": false,
"label": "REGIONID"
},
"svlen": {
"type": "string",
"required": false,
"read_only": false,
"label": "SVLEN"
},
"svtype": {
"type": "string",
"required": false,
"read_only": false,
"label": "SVTYPE"
},
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute position"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromo"
},
"clinical_source": {
"type": "string",
"required": false,
"read_only": false,
"label": "Clinical source"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Posision"
}
}
}
}
}
},
"exacCNV": {
"type": "object",
"title": "ExacCNV",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "ExacCNV Entries",
"items": {
"type": "object",
"properties": {
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute position"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromo"
},
"colour": {
"type": "string",
"required": false,
"read_only": false,
"label": "Colour"
},
"exac_population": {
"type": "string",
"required": false,
"read_only": false,
"label": "Exac population"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
},
"quality": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Quality"
}
}
}
}
}
},
"gnomad_sv": {
"type": "object",
"title": "GnomAD SV",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "GnomAd SV entries",
"items": {
"type": "object",
"properties": {
"ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AC"
},
"afr_ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AFR AC"
},
"afr_an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AFR AN"
},
"amr_ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AMR AC"
},
"amr_an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AMR AN"
},
"an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "AN"
},
"eas_ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "EAS AC"
},
"eas_an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "EAS AN"
},
"eur_ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "EUR AC"
},
"eur_an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "EUR AN"
},
"evidence": {
"type": "string",
"required": false,
"read_only": false,
"label": "EVIDENCE"
},
"filter": {
"type": "string",
"required": false,
"read_only": false,
"label": "FILTER"
},
"oth_ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "OTH AC"
},
"oth_an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "OTH AN"
},
"svlen": {
"type": "string",
"required": false,
"read_only": false,
"label": "SVLEN"
},
"svtype": {
"type": "string",
"required": false,
"read_only": false,
"label": "SVTYPE"
},
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute positon"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromo"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
}
}
}
}
}
},
"tcag_dgv": {
"type": "object",
"title": "TCAG DGV",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "DGV serializer",
"items": {
"type": "object",
"properties": {
"dgvregionjson": {
"type": "object",
"title": "DGV region json info",
"properties": {
"accession": {
"type": "string",
"required": false,
"read_only": false,
"label": "Accession"
},
"observations": {
"type": "object",
"title": "DGV region observations",
"properties": {
"observed_gains": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Observed gains"
},
"observed_losses": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Observed losses"
},
"samplesize": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Sample size"
}
}
},
"pubmedids": {
"type": "integer",
"required": false,
"read_only": false,
"label": "PubMedIds"
},
"sv_type": {
"type": "string",
"required": false,
"read_only": false,
"label": "SV type"
}
}
},
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute position"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromosome"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
}
}
}
}
}
},
"clingen_regions": {
"type": "object",
"title": "NIH ClinGen Regions",
"properties": {
"version": {
"type": "string",
"required": false,
"read_only": false,
"label": "Version"
},
"items": {
"type": "array",
"title": "Clingen regions",
"items": {
"type": "object",
"properties": {
"pub_med_references": {
"type": "list",
"required": false,
"read_only": false,
"label": "Pub med references",
"items": {
"type": "integer"
}
},
"triplosensitivity_description": {
"type": "string",
"required": false,
"read_only": false,
"label": "Triplosensitivity description"
},
"haploinsufficiency_description": {
"type": "string",
"required": false,
"read_only": false,
"label": "Haploinsufficiency description"
},
"haploinsufficiency_score": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Haploinsufficiency score"
},
"position": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Position"
},
"chromo": {
"type": "string",
"required": false,
"read_only": false,
"label": "Chromosome"
},
"absolute_positon": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Absolute position"
},
"length": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Length"
},
"triplosensitivity_score": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Triplosensitivity score"
},
"isca_id": {
"type": "string",
"required": false,
"read_only": false,
"label": "ISCA ID"
},
"isca_region_name": {
"type": "string",
"required": false,
"read_only": false,
"label": "ISCA region name"
}
}
}
}
}
},
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"label": "Number of Hemizygotes African"
},
"hemi_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes American"
},
"hemi_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes Ashkenazi Jewish"
},
"hemi_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes East Asian"
},
"hemi_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes European (Finnish)"
},
"hemi_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes European (Non-Finnish)"
},
"hemi_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes Other"
},
"hemi_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Hemizygotes South Asian"
},
"af_afr": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency African"
},
"af_amr": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency American"
},
"af_asj": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency Ashkenazi Jewish"
},
"af_eas": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency East Asian"
},
"af_fin": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency European (Finnish)"
},
"af_nfe": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency European (Non-Finnish)"
},
"af_oth": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency Other"
},
"af_sas": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency South Asian"
},
"af_male": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency Male"
},
"af_female": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency Female"
},
"indel_original_representation": {
"type": "string",
"required": false,
"read_only": false,
"label": "Indel original representation"
}
}
}
},
"gnomad_exomes": {
"type": "array",
"title": "gnomAD Exomes",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"filter": {
"type": "string",
"required": false,
"read_only": false,
"label": "Filter"
},
"ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count"
},
"an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number"
},
"af": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency"
},
"ac_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count African"
},
"ac_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Latino"
},
"ac_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Amish"
},
"ac_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Ashkenazi Jewish"
},
"ac_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian"
},
"ac_eas_kor": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian - Korean Ancestry"
},
"ac_eas_jpn": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian - Japanese Ancestry"
},
"ac_eas_oea": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian - Other East Asian Ancestry"
},
"ac_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Finnish)"
},
"ac_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish)"
},
"ac_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern"
},
"ac_nfe_bgr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Bulgarian Ancestry"
},
"ac_nfe_est": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Estonian Ancestry"
},
"ac_nfe_nwe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - North West European Ancestry"
},
"ac_nfe_onf": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Other Non Finnish Ancestry"
},
"ac_nfe_seu": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Southern European Ancestry"
},
"ac_nfe_swe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Swedish Ancestry"
},
"ac_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Other"
},
"ac_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian"
},
"ac_afr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count African Male"
},
"ac_amr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Latino Male"
},
"ac_ami_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Amish Male"
},
"ac_asj_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Ashkenazi Jewish Male"
},
"ac_eas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian Male"
},
"ac_fin_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Finnish) Male"
},
"ac_nfe_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) Male"
},
"ac_mid_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern Male"
},
"ac_oth_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Other Male"
},
"ac_sas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian Male"
},
"ac_afr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count African Female"
},
"ac_amr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Latino Female"
},
"ac_ami_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Amish Female"
},
"ac_asj_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Ashkenazi Jewish Female"
},
"ac_eas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian Female"
},
"ac_fin_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Finnish) Female"
},
"ac_nfe_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) Female"
},
"ac_mid_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern Female"
},
"ac_oth_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Other Female"
},
"ac_sas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian Female"
},
"ac_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Male"
},
"ac_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Female"
},
"an_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African"
},
"an_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino"
},
"an_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish"
},
"an_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish"
},
"an_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian"
},
"an_eas_kor": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian - Korean Ancestry"
},
"an_eas_jpn": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian - Japansese Ancestry"
},
"an_eas_oea": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian - Other East Asian Ancestry"
},
"an_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish)"
},
"an_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish)"
},
"an_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern"
},
"an_nfe_bgr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Bulgarian Ancestry"
},
"an_nfe_est": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Estonian Ancestry"
},
"an_nfe_nwe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - North West European Ancestry"
},
"an_nfe_onf": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Other Non Finnish Ancestry"
},
"an_nfe_seu": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Southern European Ancestry"
},
"an_nfe_swe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Swedish Ancestry"
},
"an_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other"
},
"an_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian"
},
"an_afr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African Male"
},
"an_amr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino Male"
},
"an_ami_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish Male"
},
"an_asj_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish Male"
},
"an_eas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian Male"
},
"an_fin_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish) Male"
},
"an_nfe_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) Male"
},
"an_mid_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern Male"
},
"an_oth_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other Male"
},
"an_sas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian Male"
},
"an_afr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African Female"
},
"an_amr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino Female"
},
"an_ami_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish Female"
},
"an_asj_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish Female"
},
"an_eas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian Female"
},
"an_fin_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish) Female"
},
"an_nfe_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) Female"
},
"an_mid_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern Female"
},
"an_oth_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other Female"
},
"an_sas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian Female"
},
"an_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Male"
},
"an_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Female"
},
"nhomalt": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes"
},
"nhomalt_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes African"
},
"nhomalt_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Latino"
},
"nhomalt_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Amish"
},
"nhomalt_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Ashkenazi Jewish"
},
"nhomalt_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian"
},
"nhomalt_eas_kor": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian - Korean Ancestry"
},
"nhomalt_eas_jpn": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian - Japanese Ancestry"
},
"nhomalt_eas_oea": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian - Other East Asian Ancestry"
},
"nhomalt_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Finnish)"
},
"nhomalt_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish)"
},
"nhomalt_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Middle Eastern"
},
"nhomalt_nfe_bgr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Bulgarian Ancestry"
},
"nhomalt_nfe_est": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Estonian Ancestry"
},
"nhomalt_nfe_nwe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - North West European Ancestry"
},
"nhomalt_nfe_onf": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Other Non Finnish Ancestry"
},
"nhomalt_nfe_seu": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Southern European Ancestry"
},
"nhomalt_nfe_swe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Swedish Ancestry"
},
"nhomalt_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Other"
},
"nhomalt_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes South Asian"
},
"nhomalt_afr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes African Male"
},
"nhomalt_amr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Latino Male"
},
"nhomalt_ami_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Amish Male"
},
"nhomalt_asj_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Ashkenazi Jewish Male"
},
"nhomalt_eas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian Male"
},
"nhomalt_fin_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Finnish) Male"
},
"nhomalt_nfe_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) Male"
},
"nhomalt_mid_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Middle Eastern Male"
},
"nhomalt_oth_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Other Male"
},
"nhomalt_sas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes South Asian Male"
},
"nhomalt_afr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes African Female"
},
"nhomalt_amr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Latino Female"
},
"nhomalt_ami_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Amish Female"
},
"nhomalt_asj_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Ashkenazi Jewish Female"
},
"nhomalt_eas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian Female"
},
"nhomalt_fin_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Finnish) Female"
},
"nhomalt_nfe_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) Female"
},
"nhomalt_mid_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Middle Eastern Female"
},
"nhomalt_oth_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Other Female"
},
"nhomalt_sas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes South Asian Female"
},
"nhomalt_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Male"
},
"nhomalt_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Female"
},
"age_hist_het_under_30": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous Under 30"
},
"age_hist_het_30_35": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 30-35"
},
"age_hist_het_35_40": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 35-40"
},
"age_hist_het_40_45": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 40-45"
},
"age_hist_het_45_50": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 45-50"
},
"age_hist_het_50_55": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 50-55"
},
"age_hist_het_55_60": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 55-60"
},
"age_hist_het_60_65": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 60-65"
},
"age_hist_het_65_70": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 65-70"
},
"age_hist_het_70_75": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 70-75"
},
"age_hist_het_75_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 75-80"
},
"age_hist_het_over_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous Over 80"
},
"age_hist_hom_under_30": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous Under 30"
},
"age_hist_hom_30_35": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 30-35"
},
"age_hist_hom_35_40": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 35-40"
},
"age_hist_hom_40_45": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 40-45"
},
"age_hist_hom_45_50": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 45-50"
},
"age_hist_hom_50_55": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 50-55"
},
"age_hist_hom_55_60": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 55-60"
},
"age_hist_hom_60_65": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 60-65"
},
"age_hist_hom_65_70": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 65-70"
},
"age_hist_hom_70_75": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 70-75"
},
"age_hist_hom_75_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 75-80"
},
"age_hist_hom_over_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous Over 80"
},
"variant_type": {
"type": "string",
"required": false,
"read_only": false,
"label": "Variant type",
"help_text": "Only populated for multi-variants, possible values are: multi-snv, multi-indel, or mixed"
},
"segdup": {
"type": "boolean",
"required": false,
"read_only": false,
"label": "Segmental duplication region",
"help_text": "is set if the variant falls within a segmental duplication region"
},
"lcr": {
"type": "boolean",
"required": false,
"read_only": false,
"label": "Low complexity region"
},
"original_variant": {
"type": "string",
"required": false,
"read_only": false,
"label": "Original variant"
},
"main_data": {
"type": "string",
"required": false,
"read_only": false,
"label": "Main data point"
},
"nonpar": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Variant (on sex chromosome) falls outside a pseudoautosomal region"
}
}
}
},
"gnomad_exomes_coverage": {
"type": "array",
"title": "gnomAD exomes coverage",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"coverage_mean": {
"type": "list",
"required": false,
"read_only": false,
"label": "Mean coverage",
"items": {
"type": "field"
}
},
"coverage_median": {
"type": "list",
"required": false,
"read_only": false,
"label": "Median coverage",
"items": {
"type": "field"
}
},
"coverage_20_frequency": {
"type": "list",
"required": false,
"read_only": false,
"label": "Proportion of samples with over 20x",
"items": {
"type": "field"
}
}
}
}
},
"gnomad_genomes": {
"type": "array",
"title": "gnomAD Genomes",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"filter": {
"type": "string",
"required": false,
"read_only": false,
"label": "Filter"
},
"ac": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count"
},
"an": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number"
},
"af": {
"type": "field",
"required": false,
"read_only": true,
"label": "Allele Frequency"
},
"ac_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count African"
},
"ac_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Latino"
},
"ac_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Amish"
},
"ac_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Ashkenazi Jewish"
},
"ac_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian"
},
"ac_eas_kor": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian - Korean Ancestry"
},
"ac_eas_jpn": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian - Japanese Ancestry"
},
"ac_eas_oea": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian - Other East Asian Ancestry"
},
"ac_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Finnish)"
},
"ac_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish)"
},
"ac_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern"
},
"ac_nfe_bgr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Bulgarian Ancestry"
},
"ac_nfe_est": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Estonian Ancestry"
},
"ac_nfe_nwe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - North West European Ancestry"
},
"ac_nfe_onf": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Other Non Finnish Ancestry"
},
"ac_nfe_seu": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Southern European Ancestry"
},
"ac_nfe_swe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) - Swedish Ancestry"
},
"ac_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Other"
},
"ac_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian"
},
"ac_afr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count African Male"
},
"ac_amr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Latino Male"
},
"ac_ami_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Amish Male"
},
"ac_asj_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Ashkenazi Jewish Male"
},
"ac_eas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian Male"
},
"ac_fin_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Finnish) Male"
},
"ac_nfe_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) Male"
},
"ac_mid_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern Male"
},
"ac_oth_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Other Male"
},
"ac_sas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian Male"
},
"ac_afr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count African Female"
},
"ac_amr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Latino Female"
},
"ac_ami_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Amish Female"
},
"ac_asj_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Ashkenazi Jewish Female"
},
"ac_eas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count East Asian Female"
},
"ac_fin_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Finnish) Female"
},
"ac_nfe_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count European (Non-Finnish) Female"
},
"ac_mid_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern Female"
},
"ac_oth_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Other Female"
},
"ac_sas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian Female"
},
"ac_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Male"
},
"ac_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Female"
},
"an_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African"
},
"an_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino"
},
"an_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish"
},
"an_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish"
},
"an_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian"
},
"an_eas_kor": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian - Korean Ancestry"
},
"an_eas_jpn": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian - Japansese Ancestry"
},
"an_eas_oea": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian - Other East Asian Ancestry"
},
"an_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish)"
},
"an_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish)"
},
"an_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern"
},
"an_nfe_bgr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Bulgarian Ancestry"
},
"an_nfe_est": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Estonian Ancestry"
},
"an_nfe_nwe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - North West European Ancestry"
},
"an_nfe_onf": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Other Non Finnish Ancestry"
},
"an_nfe_seu": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Southern European Ancestry"
},
"an_nfe_swe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) - Swedish Ancestry"
},
"an_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other"
},
"an_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian"
},
"an_afr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African Male"
},
"an_amr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino Male"
},
"an_ami_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish Male"
},
"an_asj_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish Male"
},
"an_eas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian Male"
},
"an_fin_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish) Male"
},
"an_nfe_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) Male"
},
"an_mid_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern Male"
},
"an_oth_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other Male"
},
"an_sas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian Male"
},
"an_afr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African Female"
},
"an_amr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino Female"
},
"an_ami_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish Female"
},
"an_asj_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish Female"
},
"an_eas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian Female"
},
"an_fin_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish) Female"
},
"an_nfe_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish) Female"
},
"an_mid_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern Female"
},
"an_oth_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other Female"
},
"an_sas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian Female"
},
"an_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Male"
},
"an_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Female"
},
"nhomalt": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes"
},
"nhomalt_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes African"
},
"nhomalt_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Latino"
},
"nhomalt_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Amish"
},
"nhomalt_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Ashkenazi Jewish"
},
"nhomalt_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian"
},
"nhomalt_eas_kor": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian - Korean Ancestry"
},
"nhomalt_eas_jpn": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian - Japanese Ancestry"
},
"nhomalt_eas_oea": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian - Other East Asian Ancestry"
},
"nhomalt_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Finnish)"
},
"nhomalt_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish)"
},
"nhomalt_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Middle Eastern"
},
"nhomalt_nfe_bgr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Bulgarian Ancestry"
},
"nhomalt_nfe_est": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Estonian Ancestry"
},
"nhomalt_nfe_nwe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - North West European Ancestry"
},
"nhomalt_nfe_onf": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Other Non Finnish Ancestry"
},
"nhomalt_nfe_seu": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Southern European Ancestry"
},
"nhomalt_nfe_swe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) - Swedish Ancestry"
},
"nhomalt_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Other"
},
"nhomalt_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes South Asian"
},
"nhomalt_afr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes African Male"
},
"nhomalt_amr_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Latino Male"
},
"nhomalt_ami_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Amish Male"
},
"nhomalt_asj_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Ashkenazi Jewish Male"
},
"nhomalt_eas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian Male"
},
"nhomalt_fin_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Finnish) Male"
},
"nhomalt_nfe_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) Male"
},
"nhomalt_mid_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Middle Eastern Male"
},
"nhomalt_oth_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Other Male"
},
"nhomalt_sas_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes South Asian Male"
},
"nhomalt_afr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes African Female"
},
"nhomalt_amr_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Latino Female"
},
"nhomalt_ami_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Amish Female"
},
"nhomalt_asj_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Ashkenazi Jewish Female"
},
"nhomalt_eas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes East Asian Female"
},
"nhomalt_fin_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Finnish) Female"
},
"nhomalt_nfe_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes European (Non-Finnish) Female"
},
"nhomalt_mid_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Middle Eastern Female"
},
"nhomalt_oth_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Other Female"
},
"nhomalt_sas_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes South Asian Female"
},
"nhomalt_male": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Male"
},
"nhomalt_female": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Number of Homozygotes Female"
},
"age_hist_het_under_30": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous Under 30"
},
"age_hist_het_30_35": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 30-35"
},
"age_hist_het_35_40": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 35-40"
},
"age_hist_het_40_45": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 40-45"
},
"age_hist_het_45_50": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 45-50"
},
"age_hist_het_50_55": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 50-55"
},
"age_hist_het_55_60": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 55-60"
},
"age_hist_het_60_65": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 60-65"
},
"age_hist_het_65_70": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 65-70"
},
"age_hist_het_70_75": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 70-75"
},
"age_hist_het_75_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous 75-80"
},
"age_hist_het_over_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heterozygous Over 80"
},
"age_hist_hom_under_30": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous Under 30"
},
"age_hist_hom_30_35": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 30-35"
},
"age_hist_hom_35_40": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 35-40"
},
"age_hist_hom_40_45": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 40-45"
},
"age_hist_hom_45_50": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 45-50"
},
"age_hist_hom_50_55": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 50-55"
},
"age_hist_hom_55_60": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 55-60"
},
"age_hist_hom_60_65": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 60-65"
},
"age_hist_hom_65_70": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 65-70"
},
"age_hist_hom_70_75": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 70-75"
},
"age_hist_hom_75_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous 75-80"
},
"age_hist_hom_over_80": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Homozygous Over 80"
},
"variant_type": {
"type": "string",
"required": false,
"read_only": false,
"label": "Variant type",
"help_text": "Only populated for multi-variants, possible values are: multi-snv, multi-indel, or mixed"
},
"segdup": {
"type": "boolean",
"required": false,
"read_only": false,
"label": "Segmental duplication region",
"help_text": "is set if the variant falls within a segmental duplication region"
},
"lcr": {
"type": "boolean",
"required": false,
"read_only": false,
"label": "Low complexity region"
},
"original_variant": {
"type": "string",
"required": false,
"read_only": false,
"label": "Original variant"
},
"main_data": {
"type": "string",
"required": false,
"read_only": false,
"label": "Main data point"
},
"nonpar": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Variant (on sex chromosome) falls outside a pseudoautosomal region"
}
}
}
},
"gnomad_genomes_coverage": {
"type": "array",
"title": "gnomAD genomes coverage",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"coverage_mean": {
"type": "list",
"required": false,
"read_only": false,
"label": "Mean coverage",
"items": {
"type": "field"
}
},
"coverage_median": {
"type": "list",
"required": false,
"read_only": false,
"label": "Median coverage",
"items": {
"type": "field"
}
},
"coverage_20_frequency": {
"type": "list",
"required": false,
"read_only": false,
"label": "Proportion of samples with over 20x",
"items": {
"type": "field"
}
}
}
}
},
"thousand_genomes": {
"type": "array",
"title": "1000 Genomes",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"ac": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Count",
"items": {
"type": "integer"
}
},
"af": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Frequency",
"items": {
"type": "float"
}
},
"an": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Number",
"items": {
"type": "integer"
}
},
"ns": {
"type": "list",
"required": false,
"read_only": false,
"label": "Number of Samples",
"items": {
"type": "integer"
}
},
"afr_af": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Frequency African",
"items": {
"type": "float"
}
},
"amr_af": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Frequency American",
"items": {
"type": "float"
}
},
"eas_af": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Frequency East Asian",
"items": {
"type": "float"
}
},
"eur_af": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Frequency European",
"items": {
"type": "float"
}
},
"sas_af": {
"type": "list",
"required": false,
"read_only": false,
"label": "Allele Frequency South Asian",
"items": {
"type": "float"
}
},
"main_data": {
"type": "string",
"required": false,
"read_only": false,
"label": "Main data point"
}
}
}
},
"gerp": {
"type": "array",
"title": "GERP",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"gerp_nr": {
"type": "list",
"required": false,
"read_only": false,
"label": "GERP NR",
"items": {
"type": "float"
}
},
"gerp_rs": {
"type": "list",
"required": false,
"read_only": false,
"label": "GERP RS",
"items": {
"type": "float"
}
}
}
}
},
"isb_kaviar3": {
"type": "array",
"title": "ISB Kaviar3",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"ac": {
"type": "list",
"required": false,
"read_only": false,
"label": "ac",
"items": {
"type": "integer"
}
},
"an": {
"type": "list",
"required": false,
"read_only": false,
"label": "an",
"items": {
"type": "integer"
}
},
"main_data": {
"type": "string",
"required": false,
"read_only": false,
"label": "Main data point"
}
}
}
},
"dbnsfp": {
"type": "array",
"title": "dbNSFP",
"items": {
"type": "object",
"properties": {
"version": {
"type": "string",
"required": true,
"read_only": false,
"label": "Version"
},
"ensembl_proteinid": {
"type": "list",
"required": false,
"read_only": false,
"label": "Ensembl Protein ID",
"items": {
"type": "string"
}
},
"ensembl_transcriptid": {
"type": "list",
"required": false,
"read_only": false,
"label": "Ensembl Transcript ID",
"items": {
"type": "string"
}
},
"mutationtaster_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "MutationTaster Prediction",
"items": {
"type": "string"
}
},
"mutationtaster_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "MutationTaster Accuracy",
"items": {
"type": "float"
}
},
"sift_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "SIFT score",
"items": {
"type": "float"
}
},
"sift_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "SIFT prediction",
"items": {
"type": "string"
}
},
"phylop100way_vertebrate": {
"type": "list",
"required": false,
"read_only": false,
"label": "phyloP100way vertebrate",
"items": {
"type": "float"
}
},
"phylop46way_placental": {
"type": "list",
"required": false,
"read_only": false,
"label": "phyloP46way placental",
"items": {
"type": "float"
}
},
"phylop46way_primate": {
"type": "list",
"required": false,
"read_only": false,
"label": "phyloP46way primate",
"items": {
"type": "float"
}
},
"mutationtaster_converted_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "MutationTaster converted rankscore",
"items": {
"type": "float"
}
},
"mutationassessor_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "MutationAssessor prediction",
"items": {
"type": "string"
}
},
"mutationassessor_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "MutationAssessor score",
"items": {
"type": "float"
}
},
"mutationassessor_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "MutationAssessor rankscore",
"items": {
"type": "float"
}
},
"fathmm_mkl_coding_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "FATHMM-MKL coding prediction",
"items": {
"type": "string"
}
},
"fathmm_mkl_coding_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "FATHMM-MKL coding score",
"items": {
"type": "float"
}
},
"fathmm_mkl_coding_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "FATHMM-MKL coding rankscore",
"items": {
"type": "float"
}
},
"fathmm_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "FATHMM prediction",
"items": {
"type": "string"
}
},
"fathmm_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "FATHMM score",
"items": {
"type": "float"
}
},
"fathmm_converted_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "FATHMM converted rankscore",
"items": {
"type": "float"
}
},
"sift_converted_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "SIFT converted rankscore",
"items": {
"type": "float"
}
},
"metasvm_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "MetaSVM prediction",
"items": {
"type": "string"
}
},
"metasvm_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "MetaSVM score",
"items": {
"type": "float"
}
},
"metasvm_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "MetaSVM rankscore",
"items": {
"type": "float"
}
},
"metalr_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "MetalR prediction",
"items": {
"type": "string"
}
},
"metalr_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "MetalR score",
"items": {
"type": "float"
}
},
"metalr_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "MetalR rankscore",
"items": {
"type": "float"
}
},
"provean_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "Provean prediction",
"items": {
"type": "string"
}
},
"provean_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "Provean score",
"items": {
"type": "float"
}
},
"provean_converted_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "Provean converted rankscore",
"items": {
"type": "float"
}
},
"lrt_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "LRT prediction",
"items": {
"type": "string"
}
},
"lrt_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "LRT score",
"items": {
"type": "float"
}
},
"lrt_converted_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "LRT converted rankscore",
"items": {
"type": "float"
}
},
"lrt_omega": {
"type": "list",
"required": false,
"read_only": false,
"label": "LRT Omega",
"items": {
"type": "float"
}
},
"cadd_raw": {
"type": "list",
"required": false,
"read_only": false,
"label": "CADD raw score",
"items": {
"type": "float"
}
},
"cadd_raw_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "CADD raw rankscore",
"items": {
"type": "float"
}
},
"cadd_phred": {
"type": "list",
"required": false,
"read_only": false,
"label": "CADD phred",
"items": {
"type": "float"
}
},
"gm12878_confidence_value": {
"type": "list",
"required": false,
"read_only": false,
"label": "GM12878 fitCons confidence value",
"items": {
"type": "float"
}
},
"gm12878_fitcons_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "GM12878 fitCons score",
"items": {
"type": "float"
}
},
"gm12878_fitcons_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "GM12878 fitCons rankscore",
"items": {
"type": "float"
}
},
"siphy_29way_logodds_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "SiPhy29way logOdds rankscore",
"items": {
"type": "float"
}
},
"siphy_29way_pi": {
"type": "list",
"required": false,
"read_only": false,
"label": "SiPhy29way pi",
"items": {
"type": "float"
}
},
"siphy_29way_logodds": {
"type": "float",
"required": false,
"read_only": false,
"label": "SiPhy29way logOdds"
},
"phylop20way_mammalian": {
"type": "list",
"required": false,
"read_only": false,
"label": "phyloP20way mammalian",
"items": {
"type": "float"
}
},
"phylop20way_mammalian_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "phyloP20way mammalian rankscore",
"items": {
"type": "float"
}
},
"phylop100way_vertebrate_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "phyloP100way vertebrate rankscore",
"items": {
"type": "float"
}
},
"phastcons20way_mammalian": {
"type": "list",
"required": false,
"read_only": false,
"label": "phastCons20way mammalian",
"items": {
"type": "float"
}
},
"phastcons20way_mammalian_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "phastCons20way mammalian rankscore",
"items": {
"type": "float"
}
},
"phastcons100way_vertebrate": {
"type": "list",
"required": false,
"read_only": false,
"label": "phastCons100way vertebrate",
"items": {
"type": "float"
}
},
"phastcons100way_vertebrate_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "phastCons100way vertebrate rankscore",
"items": {
"type": "float"
}
},
"vest3_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "VEST3 score",
"items": {
"type": "float"
}
},
"vest3_rankscore": {
"type": "list",
"required": false,
"read_only": false,
"label": "VEST3 rankscore",
"items": {
"type": "float"
}
},
"aloft_confidence": {
"type": "list",
"required": false,
"read_only": false,
"label": "ALoFT confidence",
"items": {
"type": "string"
}
},
"aloft_fraction_transcripts_affected": {
"type": "list",
"required": false,
"read_only": false,
"label": "ALoFT Fraction transcripts affected",
"items": {
"type": "string"
}
},
"aloft_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "ALoFT prediction",
"items": {
"type": "string"
}
},
"aloft_prob_dominant": {
"type": "list",
"required": false,
"read_only": false,
"label": "ALoFT probability dominant",
"items": {
"type": "float"
}
},
"aloft_prob_recessive": {
"type": "list",
"required": false,
"read_only": false,
"label": "ALoFT probability recessive",
"items": {
"type": "float"
}
},
"aloft_prob_tolerant": {
"type": "list",
"required": false,
"read_only": false,
"label": "ALoFT probability tolerant",
"items": {
"type": "float"
}
},
"bstatistic": {
"type": "float",
"required": false,
"read_only": false,
"label": "bStatistic value"
},
"bstatistic_rankscore": {
"type": "float",
"required": false,
"read_only": false,
"label": "bStatistic rankscore"
},
"deogen2_pred": {
"type": "list",
"required": false,
"read_only": false,
"label": "DEOGEN2 prediction",
"items": {
"type": "string"
}
},
"deogen2_rankscore": {
"type": "float",
"required": false,
"read_only": false,
"label": "DEOGEN2 rankscore"
},
"deogen2_score": {
"type": "list",
"required": false,
"read_only": false,
"label": "DEOGEN2 score",
"items": {
"type": "float"
}
},
"eigen_pc_phred_coding": {
"type": "float",
"required": false,
"read_only": false,
"label": "Eigen PC phred coding score"
},
"eigen_pc_raw_coding": {
"type": "float",
"required": false,
"read_only": false,
"label": "Eigen PC raw coding score"
},
"eigen_pc_raw_coding_rankscore": {
"type": "float",
"required": false,
"read_only": false,
"label": "Eigen PC raw coding rankscore"
},
"eigen_pred_coding": {
"type": "float",
"required": false,
"read_only": false,
"label": "Eigen pred coding score"
},
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},
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}
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}
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"label": "Value"
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}
}
},
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}
}
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}
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}
}
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}
}
},
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}
}
},
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"read_only": false,
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}
}
},
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}
}
},
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}
}
},
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}
}
},
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}
}
},
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}
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},
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}
}
},
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}
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},
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}
}
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}
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}
}
},
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}
}
}
}
}
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}
}
},
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},
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},
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},
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}
},
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},
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}
}
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}
}
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}
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}
}
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},
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},
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},
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},
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}
}
}
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},
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},
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},
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}
},
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}
},
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},
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},
"disease": {
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}
}
}
}
}
}
}
}
}
}
}
},
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},
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},
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}
}
}
},
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"type": "object",
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"type": "float",
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},
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},
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},
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},
"quartile": {
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}
}
}
},
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},
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},
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},
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},
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"items": {
"type": "field"
}
},
"heteroplasmy": {
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},
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},
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"type": "field"
}
},
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}
}
}
},
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"type": "object",
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},
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},
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}
}
}
},
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},
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"type": "object",
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},
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},
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},
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"type": "field"
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},
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},
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},
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}
},
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},
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},
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},
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}
}
}
}
},
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},
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},
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},
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},
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}
}
}
},
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},
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}
},
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}
}
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},
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},
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"read_only": false,
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},
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"read_only": false,
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"type": "field"
}
},
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"label": "Level of Evidence"
}
}
}
},
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"label": "URL"
},
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}
}
}
}
}
},
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},
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},
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}
}
},
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},
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},
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},
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}
}
},
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}
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}
},
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},
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}
},
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}
},
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}
}
},
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}
}
},
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"type": "field"
}
},
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"type": "field"
}
},
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}
},
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},
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"type": "string"
}
},
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}
}
},
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}
}
}
}
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}
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}
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}
}
},
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"type": "string"
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},
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},
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"type": "string"
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},
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}
}
}
}
},
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}
}
},
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}
}
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}
}
},
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}
}
},
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}
}
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}
}
},
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}
}
},
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}
}
},
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}
}
},
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}
}
},
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}
}
},
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"required": true,
"read_only": false,
"label": "Key"
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"type": "integer",
"required": true,
"read_only": false,
"label": "Value"
}
}
}
},
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"type": "object",
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"type": "integer",
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"read_only": false,
"label": "Value"
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}
}
},
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"type": "array",
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
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"key": {
"type": "string",
"required": true,
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"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"type": "integer",
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"read_only": false,
"label": "Value"
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}
}
},
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"type": "array",
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"type": "object",
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
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"type": "string",
"required": true,
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"read_only": false,
"label": "Value"
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}
}
},
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"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
}
}
}
},
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"type": "object",
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"key": {
"type": "string",
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"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
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"type": "string",
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"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
}
}
}
},
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"type": "object",
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
},
"value": {
"type": "integer",
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"read_only": false,
"label": "Value"
}
}
}
},
"grade": {
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"type": "object",
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
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"type": "integer",
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"read_only": false,
"label": "Value"
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}
}
},
"pub_med_references": {
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"read_only": false,
"label": "PUBMED References",
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"type": "field"
}
},
"oncotree_code": {
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"key": {
"type": "string",
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"read_only": false,
"label": "Key"
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"read_only": false,
"label": "Value"
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}
}
},
"cancer_name": {
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
},
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"read_only": false,
"label": "Value"
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}
}
},
"cancer_type": {
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
},
"value": {
"type": "integer",
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"read_only": false,
"label": "Value"
}
}
}
},
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"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
},
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"type": "integer",
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"read_only": false,
"label": "Value"
}
}
}
}
}
}
},
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"type": "string",
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"read_only": false,
"label": "Version"
},
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"read_only": false,
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},
"t_ref_count": {
"type": "integer",
"required": false,
"read_only": false,
"label": "T Ref Count"
},
"t_alt_count": {
"type": "integer",
"required": false,
"read_only": false,
"label": "T Alt Count"
},
"n_ref_count": {
"type": "integer",
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"read_only": false,
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},
"n_alt_count": {
"type": "integer",
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"read_only": false,
"label": "N Alt Count"
},
"n_depth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "N Depth"
},
"t_depth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "T Depth"
},
"somatic": {
"type": "array",
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"type": "object",
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"key": {
"type": "string",
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"read_only": false,
"label": "Key"
},
"value": {
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"read_only": false,
"label": "Value"
}
}
}
},
"canonical": {
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"read_only": false,
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},
"ensp": {
"type": "string",
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"read_only": false,
"label": "ENSP"
},
"ccds": {
"type": "string",
"required": false,
"read_only": false,
"label": "CCDS"
},
"cdsposition": {
"type": "string",
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"read_only": false,
"label": "CDS Position"
},
"cdnaposition": {
"type": "string",
"required": false,
"read_only": false,
"label": "cDNA Position"
},
"biotype": {
"type": "string",
"required": false,
"read_only": false,
"label": "Bio Type"
},
"feature": {
"type": "string",
"required": false,
"read_only": false,
"label": "Feature"
},
"uniparc": {
"type": "string",
"required": false,
"read_only": false,
"label": "Uniparc"
},
"pick": {
"type": "float",
"required": false,
"read_only": false,
"label": "Pick"
},
"pub_med_references": {
"type": "list",
"required": false,
"read_only": false,
"label": "PUBMED References",
"items": {
"type": "field"
}
},
"oncotree_code": {
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"type": "object",
"properties": {
"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
},
"value": {
"type": "integer",
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"read_only": false,
"label": "Value"
}
}
}
},
"cancer_name": {
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"type": "object",
"properties": {
"key": {
"type": "string",
"required": true,
"read_only": false,
"label": "Key"
},
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"type": "integer",
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"read_only": false,
"label": "Value"
}
}
}
},
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"required": true,
"read_only": false,
"label": "Key"
},
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"read_only": false,
"label": "Value"
}
}
}
},
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"read_only": false,
"label": "Key"
},
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"type": "integer",
"required": true,
"read_only": false,
"label": "Value"
}
}
}
}
}
}
},
"jax_ckb": {
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"version": {
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"read_only": false,
"label": "Version"
},
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},
"evidence": {
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"type": "field"
}
},
"extended_evidence": {
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"type": "field"
}
},
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"type": "field"
}
},
"protein_effect": {
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},
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},
"polymorphism": {
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},
"transforming_activity": {
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"label": "Transforming Activity"
},
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}
}
}
},
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},
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}
}
}
}
},
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"read_only": false,
"label": "Version"
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}
}
}
}
},
"maxentscan": {
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"type": "string",
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"read_only": false,
"label": "Version"
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}
}
}
}
},
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"read_only": false,
"label": "Version"
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"read_only": false,
"label": "Filter"
},
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"read_only": false,
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"required": false,
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"af": {
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"read_only": true,
"label": "Allele Frequency"
},
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"read_only": false,
"label": "Allele Count African"
},
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"type": "integer",
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"read_only": false,
"label": "Allele Count Amish"
},
"ac_amr": {
"type": "integer",
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"read_only": false,
"label": "Allele Count Latino"
},
"ac_asj": {
"type": "integer",
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"read_only": false,
"label": "Allele Count Ashkenazi Jewish"
},
"ac_eas": {
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"read_only": false,
"label": "Allele Count East Asian"
},
"ac_fin": {
"type": "integer",
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"read_only": false,
"label": "Allele Count European (Finnish)"
},
"ac_nfe": {
"type": "integer",
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"read_only": false,
"label": "Allele Count European (Non-Finnish)"
},
"ac_oth": {
"type": "integer",
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"read_only": false,
"label": "Allele Count Other"
},
"ac_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count South Asian"
},
"ac_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Middle Eastern"
},
"ac_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele count restricted to variants with a heteroplasmy level >= 0.95"
},
"ac_het": {
"type": "integer",
"required": false,
"read_only": false,
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},
"ac_afr_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy African"
},
"ac_ami_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy Amish"
},
"ac_amr_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy Latino"
},
"ac_asj_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy Ashkenazi Jewish"
},
"ac_eas_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy East Asian"
},
"ac_fin_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy European (Finnish)"
},
"ac_nfe_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy European (Non-Finnish)"
},
"ac_oth_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy Other"
},
"ac_sas_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy South Asian"
},
"ac_mid_hom": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Homoplasmy Middle Eastern"
},
"ac_afr_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy African"
},
"ac_ami_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy Amish"
},
"ac_amr_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy Latino"
},
"ac_asj_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy Ashkenazi Jewish"
},
"ac_eas_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy East Asian"
},
"ac_fin_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy European (Finnish)"
},
"ac_nfe_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy European (Non-Finnish)"
},
"ac_oth_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy Other"
},
"ac_sas_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy South Asian"
},
"ac_mid_het": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Count Heteroplasmy Middle Eastern"
},
"an_afr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number African"
},
"an_ami": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Amish"
},
"an_amr": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Latino"
},
"an_asj": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Ashkenazi Jewish"
},
"an_eas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number East Asian"
},
"an_fin": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Finnish)"
},
"an_nfe": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number European (Non-Finnish)"
},
"an_oth": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Other"
},
"an_sas": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number South Asian"
},
"an_mid": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Allele Number Middle Eastern"
},
"age_hist_het_under_30": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic Under 30"
},
"age_hist_het_30_35": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 30-35"
},
"age_hist_het_35_40": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 35-40"
},
"age_hist_het_40_45": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 40-45"
},
"age_hist_het_45_50": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 45-50"
},
"age_hist_het_50_55": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 50-55"
},
"age_hist_het_55_60": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 55-60"
},
"age_hist_het_60_65": {
"type": "integer",
"required": false,
"read_only": false,
"label": "Age Histogram Heteroplasmic 60-65"
},
"age_hist_het_65_70": {
"type": "integer",
"required": false,
"read_only": false,
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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},
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}
}
}
},
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}
}
}
},
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"type": "field"
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},
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}
}
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},
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}
},
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}
}
},
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},
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}
}
}
}
},
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"read_only": false,
"label": "Version"
},
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"read_only": false,
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},
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},
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"read_only": false,
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},
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},
"phenotype_name": {
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"read_only": false,
"label": "Phenotype name related to mutation"
},
"alternative_phenotype_names": {
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"read_only": false,
"label": "Alternative phenotype names",
"items": {
"type": "string"
}
},
"references": {
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"type": "integer"
}
},
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},
"title": {
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"label": "Reference title"
},
"source": {
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"read_only": false,
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},
"authors": {
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"required": false,
"read_only": false,
"label": "Reference authors"
}
}
}
}
}
}
}
}
}
},
"nih_clingen_variants": {
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"type": "object",
"properties": {
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"type": "string",
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"read_only": false,
"label": "ClinGen Version"
},
"approval_date": {
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"required": false,
"read_only": false,
"label": "Approval date"
},
"disease": {
"type": "string",
"required": false,
"read_only": false,
"label": "Disease"
},
"evidence_met": {
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"read_only": false,
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"items": {
"type": "string"
}
},
"evidence_not_met": {
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"items": {
"type": "string"
}
},
"expert_panel": {
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"required": false,
"read_only": false,
"label": "Expert Panel"
},
"guideline": {
"type": "string",
"required": false,
"read_only": false,
"label": "Guideline"
},
"mode_of_inheritance": {
"type": "string",
"required": false,
"read_only": false,
"label": "Mode of inheritance"
},
"mondo_id": {
"type": "string",
"required": false,
"read_only": false,
"label": "Mondo id"
},
"pathogenicity": {
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"required": false,
"read_only": false,
"label": "Pathogenicity"
},
"pub_med_references": {
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"read_only": false,
"label": "PubMedIds",
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"type": "integer"
}
},
"published_date": {
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"read_only": false,
"label": "Published date"
},
"repo_link": {
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"required": false,
"read_only": false,
"label": "Repository link"
},
"retracted": {
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"required": false,
"read_only": false,
"label": "Retracted"
},
"summary": {
"type": "string",
"required": false,
"read_only": false,
"label": "Summary"
}
}
}
},
"lumc_lovd": {
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"type": "object",
"properties": {
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"type": "string",
"required": true,
"read_only": false,
"label": "LOVD Version"
},
"genes": {
"type": "array",
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"type": "object",
"properties": {
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"type": "integer",
"required": false,
"read_only": false,
"label": "Gene ID"
},
"hgnc_id": {
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"required": false,
"read_only": false,
"label": "Hgnc ID"
},
"gene_symbol": {
"type": "string",
"required": false,
"read_only": false,
"label": "Gene Symbol"
}
}
}
},
"individuals": {
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"type": "object",
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"required": false,
"read_only": false,
"label": "Comments",
"items": {
"type": "string"
}
},
"gender": {
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"read_only": false,
"label": "Gender"
},
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"read_only": false,
"label": "Phenotypes",
"items": {
"type": "string"
}
},
"pub_med_references": {
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"read_only": false,
"label": "Pub med references",
"items": {
"type": "integer"
}
},
"variants": {
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"type": "list",
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"read_only": false,
"label": "Comments",
"items": {
"type": "string"
}
},
"is_current": {
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"read_only": false,
"label": "is current"
},
"is_lifted_over": {
"type": "boolean",
"required": false,
"read_only": false,
"label": "is lifted over"
},
"lovd_link": {
"type": "string",
"required": false,
"read_only": false,
"label": "LOVD link"
},
"pathogenicity": {
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"properties": {
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"read_only": false,
"label": "Clinical Classification Submitter"
},
"clinical_classification_curator": {
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},
"effect_submitter": {
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},
"effect_curator": {
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},
"effect_symbol": {
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"required": false,
"read_only": false,
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},
"lovd_link": {
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"required": false,
"read_only": false,
"label": "LOVD link"
}
}
},
"variant_info": {
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},
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"read_only": false,
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}
}
}
}
}
}
}
}
}
},
"is_lifted_over": {
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"read_only": false,
"label": "is lifted over"
},
"pathogenicities": {
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},
"effect_submitter": {
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},
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},
"effect_symbol": {
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},
"lovd_link": {
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"read_only": false,
"label": "LOVD link"
}
}
}
}
}
}
}
}
}