BioMCP

field,"description" "cadd._license","License information URL for the CADD data source." "cadd.alt","Alternate allele for the variant in CADD." "cadd.anc","Ancestral allele according to CADD analysis." "cadd.annotype","Annotation type (e.g., CodingTranscript) from CADD." "cadd.bstatistic","B-statistic score from CADD, related to conservation." "cadd.chmm.bivflnk","ChromHMM state score: Flanking Bivalent TSS/Enh." "cadd.chmm.enh","ChromHMM state score: Active Enhancer." "cadd.chmm.enhbiv","ChromHMM state score: Bivalent Enhancer." "cadd.chmm.het","ChromHMM state score: Heterochromatin." "cadd.chmm.quies","ChromHMM state score: Quiescent/Low activity." "cadd.chmm.reprpc","ChromHMM state score: Repressed Polycomb." "cadd.chmm.reprpcwk","ChromHMM state score: Weak Repressed Polycomb." "cadd.chmm.tssa","ChromHMM state score: Active TSS." "cadd.chmm.tssaflnk","ChromHMM state score: Flanking Active TSS." "cadd.chmm.tssbiv","ChromHMM state score: Bivalent TSS." "cadd.chmm.tx","ChromHMM state score: Strong transcription." "cadd.chmm.txflnk","ChromHMM state score: Transcribed at gene 5' and 3'." "cadd.chmm.txwk","ChromHMM state score: Weak transcription." "cadd.chmm.znfrpts","ChromHMM state score: ZNF genes & repeats." "cadd.chrom","Chromosome number for the variant in CADD." "cadd.consdetail","Detailed consequence of the variant (e.g., missense) from CADD." "cadd.consequence","General consequence category (e.g., NON_SYNONYMOUS) from CADD." "cadd.consscore","Conservation score from CADD." "cadd.cpg","Indicator if the variant is in a CpG island (0 or 1)." "cadd.dna.helt","DNA physical property: Helix twist value." "cadd.dna.mgw","DNA physical property: Minor groove width value." "cadd.dna.prot","DNA physical property: Propeller twist value." "cadd.dna.roll","DNA physical property: Roll value." "cadd.encode.exp","ENCODE gene expression value." "cadd.encode.h3k27ac","ENCODE histone modification H3K27ac signal value." "cadd.encode.h3k4me1","ENCODE histone modification H3K4me1 signal value." "cadd.encode.h3k4me3","ENCODE histone modification H3K4me3 signal value." "cadd.encode.nucleo","ENCODE nucleosome occupancy signal value." "cadd.exon","Exon number and total exons (e.g., 15/18)." "cadd.fitcons","FitCons score indicating functional impact based on evolutionary data." "cadd.gc","GC content in the surrounding region." "cadd.gene.ccds_id","Consensus CDS (CCDS) identifier for the gene." "cadd.gene.cds.cdna_pos","Position of the variant within the cDNA sequence." "cadd.gene.cds.cds_pos","Position of the variant within the coding sequence (CDS)." "cadd.gene.cds.rel_cdna_pos","Relative position within the cDNA sequence." "cadd.gene.cds.rel_cds_pos","Relative position within the coding sequence (CDS)." "cadd.gene.feature_id","Ensembl transcript identifier (ENST)." "cadd.gene.gene_id","Ensembl gene identifier (ENSG)." "cadd.gene.genename","Gene symbol (e.g., BRAF)." "cadd.gene.prot.domain","Protein domain affected by the variant." "cadd.gene.prot.protpos","Amino acid position within the protein." "cadd.gene.prot.rel_prot_pos","Relative position within the protein sequence." "cadd.gerp.n","GERP++ Neutral rate score." "cadd.gerp.rs","GERP++ Rejected Substitutions score (conservation score)." "cadd.gerp.rs_pval","P-value associated with the GERP++ RS score." "cadd.gerp.s","GERP++ S score, equivalent to RS score." "cadd.grantham","Grantham score measuring physicochemical difference between amino acids." "cadd.isderived","Indicates if the alternate allele is derived (TRUE/FALSE)." "cadd.isknownvariant","Indicates if the variant is known in dbSNP (TRUE/FALSE)." "cadd.istv","Indicates if the variant is a transversion (TRUE/FALSE)." "cadd.length","Length of the variant (0 for SNVs)." "cadd.mapability.20bp","Mapability score based on 20bp reads." "cadd.mapability.35bp","Mapability score based on 35bp reads." "cadd.min_dist_tse","Minimum distance to the nearest transcription start site end (TSE)." "cadd.min_dist_tss","Minimum distance to the nearest transcription start site (TSS)." "cadd.mutindex","Mutation index score from CADD." "cadd.naa","New amino acid resulting from the variant." "cadd.oaa","Original amino acid affected by the variant." hadd.phast_cons.mammalian,"PhastCons conservation score across mammals." "cadd.phast_cons.primate","PhastCons conservation score across primates." "cadd.phast_cons.vertebrate","PhastCons conservation score across vertebrates." hadd.phred,"CADD PHRED-like scaled score indicating deleteriousness." "cadd.phylop.mammalian","PhyloP conservation score across mammals." "cadd.phylop.primate",PhyloP conservation score across primates. "cadd.phylop.vertebrate","PhyloP conservation score across vertebrates." "cadd.polyphen.cat","PolyPhen-2 qualitative prediction (e.g., probably_damaging)." "cadd.polyphen.val","PolyPhen-2 quantitative score (0 to 1)." "cadd.pos","Genomic position of the variant (hg19)." "cadd.rawscore","CADD raw score before scaling." "cadd.ref","Reference allele for the variant in CADD." "cadd.segway","Segway annotation for the genomic region." "cadd.sift.cat","SIFT qualitative prediction (e.g., deleterious)." "cadd.sift.val","SIFT quantitative score (0 to 1)." "cadd.type","Type of variant (e.g., SNV)." "cgi._license","License information URL for the CGI data source." "cgi.association","Drug association type (Responsive, Resistant) from CGI." "cgi.cdna","cDNA change notation (e.g., c.1799T>A) from CGI." "cgi.drug","Drug name associated with the variant from CGI." "cgi.evidence_level","Level of evidence for the drug association from CGI." "cgi.gene","Gene symbol associated with the variant from CGI." "cgi.primary_tumor_type",Primary tumor type associated with the CGI entry. "cgi.protein_change","Protein change notation (e.g., BRAF:V600E) from CGI." "cgi.region","Genomic region description from CGI." "cgi.source","Source identifier (e.g., PubMed ID, ASCO abstract) from CGI." "cgi.transcript","Transcript identifier associated with the CGI entry." "chrom","Chromosome number for the variant." "civic._license","License information URL for the CIViC data source." "civic.alleleRegistryId","Allele Registry ID associated with the variant in CIViC." "civic.clinvarIds","List of associated ClinVar Variation IDs." "civic.comments.totalCount","Total number of comments associated with the CIViC variant entry." "civic.contributors.curators.lastActionDate","Timestamp of the last action by a CIViC curator." "civic.contributors.curators.totalActionCount","Total number of actions performed by a CIViC curator." "civic.contributors.curators.uniqueActions.action","Type of action performed by a CIViC curator (e.g., REVISION_SUGGESTED)." "civic.contributors.curators.uniqueActions.count","Count of a specific unique action by a CIViC curator." "civic.contributors.curators.user.id","User ID of the CIViC curator." "civic.contributors.editors.lastActionDate","Timestamp of the last action by a CIViC editor." "civic.contributors.editors.totalActionCount","Total number of actions performed by a CIViC editor." "civic.contributors.editors.uniqueActions.action","Type of action performed by a CIViC editor (e.g., REVISION_ACCEPTED)." "civic.contributors.editors.uniqueActions.count","Count of a specific unique action by a CIViC editor." "civic.contributors.editors.user.id","User ID of the CIViC editor." "civic.coordinates.chromosome","Chromosome for the variant according to CIViC coordinates." "civic.coordinates.coordinateType","Type of coordinate system used in CIViC (e.g., GENE_VARIANT_COORDINATE)." "civic.coordinates.ensemblVersion","Ensembl version used for CIViC coordinates." "civic.coordinates.referenceBases","Reference bases for the variant in CIViC coordinates." "civic.coordinates.referenceBuild","Reference genome build used for CIViC coordinates (e.g., GRCH37)." "civic.coordinates.representativeTranscript","Representative transcript ID used for CIViC coordinates." "civic.coordinates.start","Start position of the variant in CIViC coordinates." "civic.coordinates.stop","Stop position of the variant in CIViC coordinates." "civic.coordinates.variantBases","Variant bases for the variant in CIViC coordinates." "civic.creationActivity.createdAt","Timestamp when the CIViC variant entry was created." "civic.creationActivity.user.displayName","Display name of the user who created the CIViC entry." "civic.creationActivity.user.id","User ID of the creator of the CIViC entry." "civic.creationActivity.user.role","Role of the user who created the CIViC entry (e.g., ADMIN)." "civic.deprecated","Boolean indicating if the CIViC variant entry is deprecated." "civic.feature.deprecated","Boolean indicating if the associated CIViC feature (gene) is deprecated." "civic.feature.flagged","Boolean indicating if the associated CIViC feature (gene) is flagged." "civic.feature.id","Internal CIViC ID for the associated feature (gene)." "civic.feature.link","URL link to the associated CIViC feature page." "civic.feature.name","Name of the associated CIViC feature (gene symbol)." "civic.flags.totalCount","Total number of flags associated with the CIViC variant entry." "civic.hgvsDescriptions","List of HGVS descriptions for the variant from CIViC." "civic.id","Internal CIViC ID for the variant." "civic.lastAcceptedRevisionEvent.originatingUser.displayName","Display name of the user whose revision was last accepted." "civic.lastAcceptedRevisionEvent.originatingUser.id","User ID of the user whose revision was last accepted." "civic.lastAcceptedRevisionEvent.originatingUser.role","Role of the user whose revision was last accepted." "civic.lastSubmittedRevisionEvent.originatingUser.displayName","Display name of the user who last submitted a revision." "civic.lastSubmittedRevisionEvent.originatingUser.id","User ID of the user who last submitted a revision." "civic.lastSubmittedRevisionEvent.originatingUser.role","Role of the user who last submitted a revision." "civic.maneSelectTranscript","MANE Select transcript HGVS description from CIViC." "civic.molecularProfiles.evidenceItems.description","Textual description of the evidence item in CIViC." "civic.molecularProfiles.evidenceItems.disease.diseaseAliases","List of aliases for the associated disease in CIViC." "civic.molecularProfiles.evidenceItems.disease.diseaseUrl","URL link to the disease ontology page." "civic.molecularProfiles.evidenceItems.disease.displayName","Display name of the associated disease in CIViC." "civic.molecularProfiles.evidenceItems.disease.doid","Disease Ontology ID (DOID) for the associated disease." "civic.molecularProfiles.evidenceItems.disease.id","Internal CIViC ID for the associated disease." "civic.molecularProfiles.evidenceItems.disease.link","URL link to the associated CIViC disease page." "civic.molecularProfiles.evidenceItems.disease.myDiseaseInfo.doDef","Disease Ontology definition for the associated disease." "civic.molecularProfiles.evidenceItems.disease.myDiseaseInfo.icd10","ICD-10 code(s) for the associated disease." "civic.molecularProfiles.evidenceItems.disease.myDiseaseInfo.icdo","ICD-O code for the associated disease." "civic.molecularProfiles.evidenceItems.disease.myDiseaseInfo.mesh","MeSH ID(s) for the associated disease." "civic.molecularProfiles.evidenceItems.disease.myDiseaseInfo.mondoId","Mondo Disease Ontology ID for the associated disease." "civic.molecularProfiles.evidenceItems.disease.myDiseaseInfo.ncit","NCI Thesaurus code(s) for the associated disease." "civic.molecularProfiles.evidenceItems.disease.name","Name of the associated disease in CIViC." "civic.molecularProfiles.evidenceItems.evidenceDirection","Direction of evidence (SUPPORTS, DOES_NOT_SUPPORT) in CIViC." "civic.molecularProfiles.evidenceItems.evidenceLevel","Level of evidence (A, B, C, D, E) in CIViC." "civic.molecularProfiles.evidenceItems.evidenceRating","Rating of the evidence (1-5 stars) in CIViC." "civic.molecularProfiles.evidenceItems.evidenceType","Type of evidence (e.g., PREDICTIVE, DIAGNOSTIC) in CIViC." "civic.molecularProfiles.evidenceItems.flagged","Boolean indicating if the CIViC evidence item is flagged." "civic.molecularProfiles.evidenceItems.id","Internal CIViC ID for the evidence item." "civic.molecularProfiles.evidenceItems.molecularProfile.id","Internal CIViC ID for the associated molecular profile." "civic.molecularProfiles.evidenceItems.name","Name of the evidence item (e.g., EID79)." "civic.molecularProfiles.evidenceItems.significance","Clinical significance of the evidence (e.g., SENSITIVITYRESPONSE, RESISTANCE) in CIViC." "civic.molecularProfiles.evidenceItems.source.abstract","Abstract of the source publication from CIViC." "civic.molecularProfiles.evidenceItems.source.authorString","Author list from the source publication." "civic.molecularProfiles.evidenceItems.source.citation","Short citation format for the source publication." "civic.molecularProfiles.evidenceItems.source.citationId","PubMed ID (PMID) or ASCO ID for the source." "civic.molecularProfiles.evidenceItems.source.id","Internal CIViC ID for the source." "civic.molecularProfiles.evidenceItems.source.journal","Journal name of the source publication." "civic.molecularProfiles.evidenceItems.source.link","URL link to the associated CIViC source page." "civic.molecularProfiles.evidenceItems.source.name","Formatted name of the source (e.g., PubMed: Howell et al., 2011)." "civic.molecularProfiles.evidenceItems.source.openAccess","Boolean indicating if the source is open access." "civic.molecularProfiles.evidenceItems.source.pmcId","PubMed Central ID (PMCID) if available." "civic.molecularProfiles.evidenceItems.source.publicationDate","Publication date of the source." "civic.molecularProfiles.evidenceItems.source.retracted","Boolean indicating if the source has been retracted." "civic.molecularProfiles.evidenceItems.source.retractionDate","Date the source was retracted, if applicable." "civic.molecularProfiles.evidenceItems.source.retractionNature","Nature of the retraction, if applicable." "civic.molecularProfiles.evidenceItems.source.retractionReasons","Reason(s) for retraction, if applicable." "civic.molecularProfiles.evidenceItems.source.sourceType","Type of source (e.g., PUBMED, ASCO)." "civic.molecularProfiles.evidenceItems.source.sourceUrl","URL link to the original source." "civic.molecularProfiles.evidenceItems.source.title","Title of the source publication." "civic.molecularProfiles.evidenceItems.therapies.deprecated","Boolean indicating if the therapy entry is deprecated in CIViC." "civic.molecularProfiles.evidenceItems.therapies.id","Internal CIViC ID for the therapy." "civic.molecularProfiles.evidenceItems.therapies.link","URL link to the associated CIViC therapy page." "civic.molecularProfiles.evidenceItems.therapies.name","Name of the therapy in CIViC." "civic.molecularProfiles.evidenceItems.variantOrigin","Origin of the variant (SOMATIC, GERMLINE, NA) for the evidence item." "civic.molecularProfiles.id","Internal CIViC ID for the molecular profile." "civic.molecularProfiles.molecularProfileAliases","List of aliases for the molecular profile in CIViC." "civic.molecularProfiles.molecularProfileScore","Score associated with the molecular profile in CIViC." "civic.molecularProfiles.name","Name of the molecular profile in CIViC." "civic.molecularProfiles.variants.id","Internal CIViC ID for the variant within the profile." "civic.molecularProfiles.variants.link","URL link to the associated CIViC variant page." "civic.molecularProfiles.variants.name","Name of the variant within the profile." "civic.name","Name of the variant in CIViC (e.g., V600E)." "civic.openCravatUrl","URL link to the OpenCRAVAT report for the variant." "civic.openRevisionCount","Number of open revisions for the CIViC variant entry." "civic.revisions.totalCount","Total number of revisions for the CIViC variant entry." "civic.variantAliases","List of aliases for the variant in CIViC." "civic.variantTypes.id","Internal CIViC ID for the variant type." "civic.variantTypes.link","URL link to the associated CIViC variant type page." "civic.variantTypes.name","Name of the variant type (e.g., Missense Variant)." "civic.variantTypes.soid","Sequence Ontology ID for the variant type." "clinvar._license","License information URL for the ClinVar data source." "clinvar.allele_id","ClinVar Allele ID." "clinvar.alt","Alternate allele in ClinVar." "clinvar.chrom","Chromosome number in ClinVar." "clinvar.cytogenic","Cytogenetic location (e.g., 7q34)." "clinvar.gene.id","Entrez Gene ID associated with the ClinVar record." "clinvar.gene.symbol","Gene symbol associated with the ClinVar record." "clinvar.hg19.end","End position of the variant in hg19 assembly." "clinvar.hg19.start","Start position of the variant in hg19 assembly." "clinvar.hg38.end","End position of the variant in hg38 assembly." "clinvar.hg38.start","Start position of the variant in hg38 assembly." "clinvar.hgvs.coding","List of HGVS coding sequence notations." "clinvar.hgvs.genomic","List of HGVS genomic sequence notations." "clinvar.hgvs.protein","List of HGVS protein sequence notations." "clinvar.omim","Associated Online Mendelian Inheritance in Man (OMIM) ID(s)." "clinvar.rcv.accession","ClinVar RCV accession number (identifies a submitted interpretation)." "clinvar.rcv.clinical_significance","Clinical significance assertion for the RCV record." "clinvar.rcv.conditions.identifiers.human_phenotype_ontology","Associated Human Phenotype Ontology (HPO) IDs." "clinvar.rcv.conditions.identifiers.medgen","Associated MedGen Concept Unique Identifier (CUI)." "clinvar.rcv.conditions.identifiers.mesh","Associated Medical Subject Headings (MeSH) ID(s)." "clinvar.rcv.conditions.identifiers.mondo","Associated Mondo Disease Ontology ID(s)." "clinvar.rcv.conditions.identifiers.omim","Associated OMIM ID(s) for the condition." "clinvar.rcv.conditions.identifiers.orphanet","Associated Orphanet ID(s)." "clinvar.rcv.conditions.name","Name of the condition associated with the RCV record." "clinvar.rcv.conditions.synonyms","Synonyms for the condition associated with the RCV record." "clinvar.rcv.last_evaluated","Date the RCV record was last evaluated by the submitter." "clinvar.rcv.number_submitters","Number of submitters for this interpretation." "clinvar.rcv.origin","Origin of the allele (somatic, germline, etc.)." "clinvar.rcv.preferred_name","Submitter's preferred name for the variant." "clinvar.rcv.review_status","Review status of the ClinVar RCV record." "clinvar.ref","Reference allele in ClinVar." "clinvar.rsid","Associated dbSNP Reference SNP (rs) identifier." "clinvar.type","Type of variant (e.g., single nucleotide variant)." "clinvar.variant_id","ClinVar Variation ID." "cosmic._license","License information URL for the COSMIC data source." "cosmic.alt","Alternate allele in COSMIC (relative to reference)." "cosmic.chrom","Chromosome number in COSMIC." "cosmic.cosmic_id","COSMIC mutation identifier (e.g., COSM476)." "cosmic.hg19.end","End position of the variant in hg19 assembly (COSMIC)." "cosmic.hg19.start","Start position of the variant in hg19 assembly (COSMIC)." "cosmic.mut_freq","Mutation frequency reported in COSMIC samples (?). UNKNOWN." "cosmic.mut_nt","Nucleotide change reported in COSMIC (e.g., T>A)." "cosmic.ref","Reference allele in COSMIC." "cosmic.tumor_site","Primary tumor site where the mutation was observed in COSMIC." "dbnsfp._license","License information URL for the dbNSFP data source." "dbnsfp.aa.alt","Alternate amino acid predicted by dbNSFP." "dbnsfp.aa.codon_degeneracy","Codon degeneracy value. UNKNOWN significance here." "dbnsfp.aa.codonpos","Position within the codon (1, 2, or 3)." "dbnsfp.aa.pos","Amino acid position in the protein sequence (for different transcripts)." "dbnsfp.aa.ref","Reference amino acid from dbNSFP." "dbnsfp.aa.refcodon","Reference codon sequence(s)." "dbnsfp.alphamissense.pred","AlphaMissense prediction (Pathogenic/Benign) for different transcripts." "dbnsfp.alphamissense.rankscore","AlphaMissense rank score (0-1, higher is more pathogenic)." "dbnsfp.alphamissense.score","AlphaMissense raw score for different transcripts." "dbnsfp.alt","Alternate allele in dbNSFP." "dbnsfp.ancestral_allele","Predicted ancestral allele from dbNSFP." "dbnsfp.appris","APPRIS annotation for the transcript (e.g., principal, alternative)." "dbnsfp.bayesdel.add_af.pred","BayesDel prediction (Deleterious/Tolerated) incorporating allele frequency." "dbnsfp.bayesdel.add_af.rankscore","BayesDel rank score incorporating allele frequency." "dbnsfp.bayesdel.add_af.score","BayesDel score incorporating allele frequency." "dbnsfp.bayesdel.no_af.pred","BayesDel prediction (Deleterious/Tolerated) without allele frequency." "dbnsfp.bayesdel.no_af.rankscore","BayesDel rank score without allele frequency." "dbnsfp.bayesdel.no_af.score","BayesDel score without allele frequency." "dbnsfp.bstatistic.converted_rankscore","BStatistic converted rank score." "dbnsfp.bstatistic.score","BStatistic raw score." "dbnsfp.chrom","Chromosome number in dbNSFP." "dbnsfp.clinpred.pred","ClinPred prediction (Deleterious/Benign)." "dbnsfp.clinpred.rankscore","ClinPred rank score." "dbnsfp.clinpred.score","ClinPred raw score." "dbnsfp.clinvar.clinvar_id","Associated ClinVar Variation ID in dbNSFP." "dbnsfp.clinvar.clnsig","ClinVar clinical significance assertions from dbNSFP." "dbnsfp.clinvar.hgvs","HGVS genomic notation from ClinVar via dbNSFP." "dbnsfp.clinvar.medgen","Associated MedGen CUIs from ClinVar via dbNSFP." "dbnsfp.clinvar.omim","Associated OMIM IDs from ClinVar via dbNSFP." "dbnsfp.clinvar.orphanet","Associated Orphanet IDs from ClinVar via dbNSFP." "dbnsfp.clinvar.review","ClinVar review status from dbNSFP." "dbnsfp.clinvar.trait","Associated traits/diseases from ClinVar via dbNSFP." "dbnsfp.clinvar.var_source","Sources cited for the ClinVar entry via dbNSFP." "dbnsfp.dann.rankscore","DANN rank score." "dbnsfp.dann.score","DANN raw score for predicting deleteriousness." "dbnsfp.deogen2.pred","DEOGEN2 prediction (Deleterious/Tolerated)." "dbnsfp.deogen2.rankscore","DEOGEN2 rank score." "dbnsfp.deogen2.score","DEOGEN2 raw score." "dbnsfp.eigen.phred_coding","Eigen Phred-scaled score for coding variants." "dbnsfp.eigen.raw_coding","Eigen raw score for coding variants." "dbnsfp.eigen.raw_coding_rankscore","Eigen rank score for coding variants." "dbnsfp.eigen-pc.phred_coding","Eigen-PC Phred-scaled score for coding variants (principal components)." "dbnsfp.eigen-pc.raw_coding","Eigen-PC raw score for coding variants (principal components)." "dbnsfp.eigen-pc.raw_coding_rankscore","Eigen-PC rank score for coding variants (principal components)." "dbnsfp.ensembl.geneid","Ensembl Gene ID from dbNSFP." "dbnsfp.ensembl.proteinid","Ensembl Protein ID from dbNSFP." "dbnsfp.ensembl.transcriptid","Ensembl Transcript ID from dbNSFP." "dbnsfp.esm1b.pred","ESM-1b prediction (Deleterious/Benign)." "dbnsfp.esm1b.rankscore","ESM-1b rank score." "dbnsfp.esm1b.score","ESM-1b raw score." "dbnsfp.eve.class10_pred","EVE prediction class (Pathogenic/Benign/Uncertain) at 10% FDR." "dbnsfp.eve.class20_pred","EVE prediction class at 20% FDR." "dbnsfp.eve.class25_pred","EVE prediction class at 25% FDR." "dbnsfp.eve.class30_pred","EVE prediction class at 30% FDR." "dbnsfp.eve.class40_pred","EVE prediction class at 40% FDR." "dbnsfp.eve.class50_pred","EVE prediction class at 50% FDR." "dbnsfp.eve.class60_pred","EVE prediction class at 60% FDR." "dbnsfp.eve.class70_pred","EVE prediction class at 70% FDR." "dbnsfp.eve.class75_pred","EVE prediction class at 75% FDR." "dbnsfp.eve.class80_pred","EVE prediction class at 80% FDR." "dbnsfp.eve.class90_pred","EVE prediction class at 90% FDR." "dbnsfp.eve.rankscore","EVE rank score." "dbnsfp.eve.score","EVE raw score." "dbnsfp.exac.ac","Allele count in ExAC database from dbNSFP." "dbnsfp.exac.adj_ac","Adjusted allele count in ExAC from dbNSFP." "dbnsfp.exac.adj_af","Adjusted allele frequency in ExAC from dbNSFP." "dbnsfp.exac.af","Allele frequency in ExAC database from dbNSFP." "dbnsfp.exac.afr.ac","Allele count in ExAC African population." "dbnsfp.exac.afr.af","Allele frequency in ExAC African population." "dbnsfp.exac.amr.ac","Allele count in ExAC American population." "dbnsfp.exac.amr.af","Allele frequency in ExAC American population." "dbnsfp.exac.eas.ac","Allele count in ExAC East Asian population." "dbnsfp.exac.eas.af","Allele frequency in ExAC East Asian population." "dbnsfp.exac.fin.ac","Allele count in ExAC Finnish population." "dbnsfp.exac.fin.af","Allele frequency in ExAC Finnish population." "dbnsfp.exac.nfe.ac","Allele count in ExAC Non-Finnish European population." "dbnsfp.exac.nfe.af","Allele frequency in ExAC Non-Finnish European population." "dbnsfp.exac.sas.ac","Allele count in ExAC South Asian population." "dbnsfp.exac.sas.af","Allele frequency in ExAC South Asian population." "dbnsfp.exac_nonpsych.ac","Allele count in ExAC non-psychiatric subset." "dbnsfp.exac_nonpsych.adj_ac","Adjusted allele count in ExAC non-psychiatric subset." "dbnsfp.exac_nonpsych.adj_af","Adjusted allele frequency in ExAC non-psychiatric subset." "dbnsfp.exac_nonpsych.af","Allele frequency in ExAC non-psychiatric subset." "dbnsfp.exac_nonpsych.afr.ac","Allele count in ExAC non-psych African population." "dbnsfp.exac_nonpsych.afr.af","Allele frequency in ExAC non-psych African population." "dbnsfp.exac_nonpsych.amr.ac","Allele count in ExAC non-psych American population." "dbnsfp.exac_nonpsych.amr.af","Allele frequency in ExAC non-psych American population." "dbnsfp.exac_nonpsych.eas.ac","Allele count in ExAC non-psych East Asian population." "dbnsfp.exac_nonpsych.eas.af","Allele frequency in ExAC non-psych East Asian population." "dbnsfp.exac_nonpsych.fin.ac","Allele count in ExAC non-psych Finnish population." "dbnsfp.exac_nonpsych.fin.af","Allele frequency in ExAC non-psych Finnish population." "dbnsfp.exac_nonpsych.nfe.ac","Allele count in ExAC non-psych Non-Finnish European population." "dbnsfp.exac_nonpsych.nfe.af","Allele frequency in ExAC non-psych Non-Finnish European population." "dbnsfp.exac_nonpsych.sas.ac","Allele count in ExAC non-psych South Asian population." "dbnsfp.exac_nonpsych.sas.af","Allele frequency in ExAC non-psych South Asian population." "dbnsfp.exac_nontcga.ac","Allele count in ExAC non-TCGA subset." "dbnsfp.exac_nontcga.adj_ac","Adjusted allele count in ExAC non-TCGA subset." "dbnsfp.exac_nontcga.adj_af","Adjusted allele frequency in ExAC non-TCGA subset." "dbnsfp.exac_nontcga.af","Allele frequency in ExAC non-TCGA subset." "dbnsfp.exac_nontcga.afr.ac","Allele count in ExAC non-TCGA African population." "dbnsfp.exac_nontcga.afr.af","Allele frequency in ExAC non-TCGA African population." "dbnsfp.exac_nontcga.amr.ac","Allele count in ExAC non-TCGA American population." "dbnsfp.exac_nontcga.amr.af","Allele frequency in ExAC non-TCGA American population." "dbnsfp.exac_nontcga.eas.ac","Allele count in ExAC non-TCGA East Asian population." "dbnsfp.exac_nontcga.eas.af","Allele frequency in ExAC non-TCGA East Asian population." "dbnsfp.exac_nontcga.fin.ac","Allele count in ExAC non-TCGA Finnish population." "dbnsfp.exac_nontcga.fin.af","Allele frequency in ExAC non-TCGA Finnish population." "dbnsfp.exac_nontcga.nfe.ac","Allele count in ExAC non-TCGA Non-Finnish European population." "dbnsfp.exac_nontcga.nfe.af","Allele frequency in ExAC non-TCGA Non-Finnish European population." "dbnsfp.exac_nontcga.sas.ac","Allele count in ExAC non-TCGA South Asian population." "dbnsfp.exac_nontcga.sas.af","Allele frequency in ExAC non-TCGA South Asian population." "dbnsfp.fathmm-mkl.coding_group","FATHMM-MKL coding group assignment." "dbnsfp.fathmm-mkl.coding_pred","FATHMM-MKL prediction (Deleterious/Neutral) for coding variants." "dbnsfp.fathmm-mkl.coding_rankscore","FATHMM-MKL rank score for coding variants." "dbnsfp.fathmm-mkl.coding_score","FATHMM-MKL raw score for coding variants." "dbnsfp.fathmm-xf.coding_pred","FATHMM-XF prediction (Deleterious/Neutral) for coding variants." "dbnsfp.fathmm-xf.coding_rankscore","FATHMM-XF rank score for coding variants." "dbnsfp.fathmm-xf.coding_score","FATHMM-XF raw score for coding variants." "dbnsfp.fitcons.gm12878.confidence_value","FitCons confidence value in GM12878 cell line." "dbnsfp.fitcons.gm12878.rankscore","FitCons rank score in GM12878 cell line." "dbnsfp.fitcons.gm12878.score","FitCons raw score in GM12878 cell line." "dbnsfp.fitcons.h1-hesc.confidence_value","FitCons confidence value in H1-hESC cell line." "dbnsfp.fitcons.h1-hesc.rankscore","FitCons rank score in H1-hESC cell line." "dbnsfp.fitcons.h1-hesc.score","FitCons raw score in H1-hESC cell line." "dbnsfp.fitcons.huvec.confidence_value","FitCons confidence value in HUVEC cell line." "dbnsfp.fitcons.huvec.rankscore","FitCons rank score in HUVEC cell line." "dbnsfp.fitcons.huvec.score","FitCons raw score in HUVEC cell line." "dbnsfp.fitcons.integrated.confidence_value","Integrated FitCons confidence value across cell lines." "dbnsfp.fitcons.integrated.rankscore","Integrated FitCons rank score across cell lines." "dbnsfp.fitcons.integrated.score","Integrated FitCons raw score across cell lines." "dbnsfp.gencode_basic","Indicates if transcript is part of GENCODE basic set (Y/N)." "dbnsfp.genename","Gene name(s) from dbNSFP." "dbnsfp.genocanyon.rankscore","GenoCanyon rank score." "dbnsfp.genocanyon.score","GenoCanyon raw score for functional prediction." "dbnsfp.gerp++.nr","GERP++ Neutral Rate score." "dbnsfp.gerp++.rs","GERP++ Rejected Substitutions score (conservation)." "dbnsfp.gerp++.rs_rankscore","GERP++ RS rank score." "dbnsfp.gmvp.rankscore","GMVP (Genome-Wide Missense Variant Pathogenicity) rank score." "dbnsfp.gmvp.score","GMVP raw score." "dbnsfp.hg18.end","End position in hg18 assembly." "dbnsfp.hg18.start","Start position in hg18 assembly." "dbnsfp.hg19.end","End position in hg19 assembly." "dbnsfp.hg19.start","Start position in hg19 assembly." "dbnsfp.hg38.end","End position in hg38 assembly." "dbnsfp.hg38.start","Start position in hg38 assembly." "dbnsfp.hgvsc","HGVS coding sequence notation(s) from dbNSFP." "dbnsfp.hgvsp","HGVS protein sequence notation(s) from dbNSFP." "dbnsfp.interpro.domain","InterPro protein domain annotation(s)." "dbnsfp.list-s2.pred","LIST-S2 prediction (Tolerated/Damaging)." "dbnsfp.list-s2.rankscore","LIST-S2 rank score." "dbnsfp.list-s2.score","LIST-S2 raw score." "dbnsfp.lrt.converted_rankscore","LRT converted rank score." "dbnsfp.lrt.omega","LRT omega value (dN/dS ratio)." "dbnsfp.lrt.pred","LRT prediction (Deleterious/Neutral/Unknown)." "dbnsfp.lrt.score","LRT raw score (likelihood ratio test)." "dbnsfp.m-cap.pred","M-CAP prediction (Deleterious/Tolerated)." "dbnsfp.m-cap.rankscore","M-CAP rank score." "dbnsfp.m-cap.score","M-CAP raw score." "dbnsfp.metalr.pred","MetaLR prediction (Tolerated/Damaging)." "dbnsfp.metalr.rankscore","MetaLR rank score." "dbnsfp.metalr.score","MetaLR raw score." "dbnsfp.metarnn.pred","MetaRNN prediction (Deleterious/Benign)." "dbnsfp.metarnn.rankscore","MetaRNN rank score." "dbnsfp.metarnn.score","MetaRNN raw score." "dbnsfp.metasvm.pred","MetaSVM prediction (Tolerated/Damaging)." "dbnsfp.metasvm.rankscore","MetaSVM rank score." "dbnsfp.metasvm.score","MetaSVM raw score." "dbnsfp.mpc.rankscore","MPC (Missense badness, PolyPhen-2, and Constraint) rank score." "dbnsfp.mpc.score","MPC raw score." "dbnsfp.mutationassessor.pred","MutationAssessor prediction (high/medium/low/neutral functional impact)." "dbnsfp.mutationassessor.rankscore","MutationAssessor rank score." "dbnsfp.mutationassessor.score","MutationAssessor raw score (functional impact score)." "dbnsfp.mutationtaster.aae","Amino acid change predicted by MutationTaster." "dbnsfp.mutationtaster.converted_rankscore","MutationTaster converted rank score." "dbnsfp.mutationtaster.model","MutationTaster model used for prediction." "dbnsfp.mutationtaster.pred","MutationTaster prediction (disease_causing_automatic/polymorphism_automatic)." "dbnsfp.mutationtaster.score","MutationTaster raw score (probability of being deleterious)." "dbnsfp.mutformer.rankscore","MutFormer rank score." "dbnsfp.mutformer.score","MutFormer raw score." "dbnsfp.mutpred.aa_change","Amino acid change considered by MutPred." "dbnsfp.mutpred.accession","UniProt accession used by MutPred." "dbnsfp.mutpred.pred.mechanism","Molecular mechanism predicted by MutPred to be affected." "dbnsfp.mutpred.pred.p_val","P-value associated with the MutPred mechanism prediction." "dbnsfp.mutpred.rankscore","MutPred rank score." "dbnsfp.mutpred.score","MutPred raw score (probability of being deleterious)." "dbnsfp.mvp.rankscore","MVP (Missense Variant Pathogenicity) rank score." "dbnsfp.mvp.score","MVP raw score." "dbnsfp.phactboost.rankscore","phACTboost rank score." "dbnsfp.phactboost.score","phACTboost raw score." "dbnsfp.phastcons.100way_vertebrate.rankscore","PhastCons 100-way vertebrate conservation rank score." "dbnsfp.phastcons.100way_vertebrate.score","PhastCons 100-way vertebrate conservation score." "dbnsfp.phastcons.17way_primate.rankscore","PhastCons 17-way primate conservation rank score." "dbnsfp.phastcons.17way_primate.score","PhastCons 17-way primate conservation score." "dbnsfp.phastcons.470way_mammalian.rankscore","PhastCons 470-way mammalian conservation rank score." "dbnsfp.phastcons.470way_mammalian.score","PhastCons 470-way mammalian conservation score." "dbnsfp.phylop.100way_vertebrate.rankscore","PhyloP 100-way vertebrate conservation rank score." "dbnsfp.phylop.100way_vertebrate.score","PhyloP 100-way vertebrate conservation score." "dbnsfp.phylop.17way_primate.rankscore","PhyloP 17-way primate conservation rank score." "dbnsfp.phylop.17way_primate.score","PhyloP 17-way primate conservation score." "dbnsfp.phylop.470way_mammalian.rankscore","PhyloP 470-way mammalian conservation rank score." "dbnsfp.phylop.470way_mammalian.score","PhyloP 470-way mammalian conservation score." "dbnsfp.polyphen2.hdiv.pred","PolyPhen-2 HDIV prediction (Probably_damaging/Possibly_damaging/Benign)." "dbnsfp.polyphen2.hdiv.rankscore","PolyPhen-2 HDIV rank score." "dbnsfp.polyphen2.hdiv.score","PolyPhen-2 HDIV raw score." "dbnsfp.polyphen2.hvar.pred","PolyPhen-2 HVAR prediction (Probably_damaging/Possibly_damaging/Benign)." "dbnsfp.polyphen2.hvar.rankscore","PolyPhen-2 HVAR rank score." "dbnsfp.polyphen2.hvar.score","PolyPhen-2 HVAR raw score." "dbnsfp.primateai.pred","PrimateAI prediction (Deleterious/Tolerated)." "dbnsfp.primateai.rankscore","PrimateAI rank score." "dbnsfp.primateai.score","PrimateAI raw score." "dbnsfp.ref","Reference allele in dbNSFP." "dbnsfp.reliability_index","dbNSFP internal reliability index. UNKNOWN significance." "dbnsfp.revel.rankscore","REVEL (Rare Exome Variant Ensemble Learner) rank score." "dbnsfp.revel.score","REVEL raw score." "dbnsfp.rsid","Associated dbSNP rsID from dbNSFP." "dbnsfp.siphy_29way.logodds_rankscore","SiPhy 29-way log-odds rank score." "dbnsfp.siphy_29way.logodds_score","SiPhy 29-way log-odds conservation score." "dbnsfp.siphy_29way.pi.a","SiPhy estimated probability of A at this position." "dbnsfp.siphy_29way.pi.c","SiPhy estimated probability of C at this position." "dbnsfp.siphy_29way.pi.g","SiPhy estimated probability of G at this position." "dbnsfp.siphy_29way.pi.t","SiPhy estimated probability of T at this position." "dbnsfp.tsl","Transcript Support Level from Ensembl." "dbnsfp.uniprot.acc","UniProt accession number(s)." "dbnsfp.uniprot.entry","UniProt entry name(s)." "dbnsfp.varity.er.rankscore","VARITY_ER (evidence-based ranking) rank score." "dbnsfp.varity.er.score","VARITY_ER raw score." "dbnsfp.varity.er_loo.rankscore","VARITY_ER_LOO (leave-one-out) rank score." "dbnsfp.varity.er_loo.score","VARITY_ER_LOO raw score." "dbnsfp.varity.r.rankscore","VARITY_R (rule-based ranking) rank score." "dbnsfp.varity.r.score","VARITY_R raw score." "dbnsfp.varity.r_loo.rankscore","VARITY_R_LOO (leave-one-out) rank score." "dbnsfp.varity.r_loo.score","VARITY_R_LOO raw score." "dbnsfp.vep_canonical","Indicates if the transcript is the VEP canonical transcript (YES/NO)." "dbsnp._license","License information URL for the dbSNP data source." "dbsnp.alleles.allele","Allele base (A, C, G, or T)." "dbsnp.alleles.freq.exac","Allele frequency in ExAC as reported by dbSNP." "dbsnp.alleles.freq.gnomad_exomes","Allele frequency in gnomAD exomes as reported by dbSNP." "dbsnp.alt","Alternate allele(s) in dbSNP." "dbsnp.chrom","Chromosome number in dbSNP." "dbsnp.citations","List of PubMed IDs citing this dbSNP entry." "dbsnp.dbsnp_build","dbSNP build number when the information was extracted." "dbsnp.gene.geneid","Entrez Gene ID associated with the dbSNP record." "dbsnp.gene.is_pseudo","Boolean indicating if the associated gene is a pseudogene." "dbsnp.gene.name","Full name of the associated gene." "dbsnp.gene.rnas.codon_aligned_transcript_change.deleted_sequence","Deleted sequence in codon-aligned transcript context." "dbsnp.gene.rnas.codon_aligned_transcript_change.inserted_sequence","Inserted sequence in codon-aligned transcript context." "dbsnp.gene.rnas.codon_aligned_transcript_change.position","Position of change in codon-aligned transcript context." "dbsnp.gene.rnas.codon_aligned_transcript_change.seq_id","Sequence ID for codon-aligned transcript context." "dbsnp.gene.rnas.hgvs","HGVS notation for the specific RNA transcript." "dbsnp.gene.rnas.protein.variant.spdi.deleted_sequence","Deleted sequence in SPDI protein context." "dbsnp.gene.rnas.protein.variant.spdi.inserted_sequence","Inserted sequence in SPDI protein context." "dbsnp.gene.rnas.protein.variant.spdi.position","Position of change in SPDI protein context." "dbsnp.gene.rnas.protein.variant.spdi.seq_id","Sequence ID for SPDI protein context." "dbsnp.gene.rnas.protein_product.refseq","RefSeq protein product identifier (NP_)." "dbsnp.gene.rnas.refseq","RefSeq RNA transcript identifier (NM_ or XM_)." "dbsnp.gene.rnas.so.accession","Sequence Ontology term accession (SO:...)." "dbsnp.gene.rnas.so.name","Sequence Ontology term name (e.g., coding_sequence_variant)." "dbsnp.gene.strand","Gene strand (+ or -)." "dbsnp.gene.symbol","Gene symbol (e.g., BRAF)." "dbsnp.hg19.end","End position in hg19 assembly (dbSNP)." "dbsnp.hg19.start","Start position in hg19 assembly (dbSNP)." "dbsnp.ref","Reference allele in dbSNP." "dbsnp.rsid","dbSNP Reference SNP (rs) identifier." "dbsnp.vartype","Type of variation (e.g., snv)." "docm.aa_change","Amino acid change notation (e.g., p.V600E) from DOCM." "docm.all_domains","All protein domains overlapping the variant position from DOCM." "docm.alt","Alternate allele in DOCM." "docm.c_position","cDNA position notation (e.g., c.1799) from DOCM." "docm.chrom","Chromosome number in DOCM." "docm.default_gene_name","Default gene name used in DOCM." "docm.deletion_substructures","Substructure information for deletions (often '-'). UNKNOWN." "docm.disease","Disease associated with the variant in DOCM." "docm.doid","Disease Ontology ID (DOID) associated with the variant in DOCM." "docm.domain","Specific protein domain containing the variant from DOCM." "docm.ensembl_gene_id","Ensembl gene ID from DOCM." "docm.genename","Gene name from DOCM." "docm.genename_source","Source of the gene name (e.g., HGNC) in DOCM." "docm.hg19.end","End position in hg19 assembly (DOCM)." "docm.hg19.start","Start position in hg19 assembly (DOCM)." "docm.primary","Indicates if this is the primary transcript used (?). UNKNOWN." "docm.pubmed_id","Associated PubMed IDs from DOCM." "docm.ref","Reference allele in DOCM." "docm.source","Original data source cited by DOCM (e.g., MyCancerGenome)." "docm.strand","Genomic strand (+ or -) in DOCM." "docm.transcript_error","Indicates errors found during transcript mapping in DOCM." "docm.transcript_name","Transcript name used for annotation in DOCM." "docm.transcript_source","Source of the transcript information (e.g., ensembl) in DOCM." "docm.transcript_species","Species of the transcript (e.g., human) in DOCM." "docm.transcript_status","Status of the transcript (e.g., known) in DOCM." "docm.transcript_version","Version of the transcript used in DOCM." "docm.trv_type","Type of transcript variation (e.g., missense) in DOCM." "docm.type","Type of variant (e.g., SNP) in DOCM." "docm.ucsc_cons","UCSC conservation score (?). UNKNOWN." "docm.url","URL link to the source entry in DOCM." "emv._license","License information URL for the EMV data source." "emv.egl_classification","EGL classification of the variant (e.g., Pathogenic)." "emv.egl_classification_date","Date of the EGL classification." "emv.egl_protein","Protein change notation used by EGL." "emv.egl_variant","Variant notation used by EGL (often HGVS coding)." "emv.exon","Exon number containing the variant from EMV." "emv.gene","Gene symbol from EMV." "emv.hgvs","List of HGVS notations associated with the variant in EMV." "emv.variant_id","Internal EMV variant identifier." "exac._license","License information URL for the ExAC data source." "exac.ac.ac","Total allele count in ExAC." "exac.ac.ac_adj","Adjusted total allele count in ExAC (after filtering)." "exac.ac.ac_afr","Allele count in ExAC African/African American population." "exac.ac.ac_amr","Allele count in ExAC American population." "exac.ac.ac_eas","Allele count in ExAC East Asian population." "exac.ac.ac_female","Allele count in ExAC female population." "exac.ac.ac_fin","Allele count in ExAC Finnish population." "exac.ac.ac_het","Heterozygous allele count in ExAC." "exac.ac.ac_hom","Homozygous allele count in ExAC." "exac.ac.ac_male","Allele count in ExAC male population." "exac.ac.ac_nfe","Allele count in ExAC Non-Finnish European population." "exac.ac.ac_oth","Allele count in ExAC Other population." "exac.ac.ac_sas","Allele count in ExAC South Asian population." "exac.af","Allele frequency in ExAC." "exac.alleles","Alternate allele(s) observed in ExAC." "exac.alt","Alternate allele in ExAC format." "exac.an.an","Total number of alleles genotyped in ExAC." "exac.an.an_adj","Adjusted total number of alleles in ExAC (after filtering)." "exac.an.an_afr","Number of alleles in ExAC African/African American population." "exac.an.an_amr","Number of alleles in ExAC American population." "exac.an.an_eas","Number of alleles in ExAC East Asian population." "exac.an.an_female","Number of alleles in ExAC female population." "exac.an.an_fin","Number of alleles in ExAC Finnish population." "exac.an.an_male","Number of alleles in ExAC male population." "exac.an.an_nfe","Number of alleles in ExAC Non-Finnish European population." "exac.an.an_oth","Number of alleles in ExAC Other population." "exac.an.an_sas","Number of alleles in ExAC South Asian population." "exac.baseqranksum","ExAC BaseQRankSum test statistic (mapping quality difference)." "exac.chrom","Chromosome number in ExAC." "exac.clippingranksum","ExAC ClippingRankSum test statistic." "exac.culprit","ExAC VQSR culprit annotation." "exac.fs","ExAC FisherStrand bias score." "exac.het.het_afr","Heterozygous count in ExAC African/African American population." "exac.het.het_amr","Heterozygous count in ExAC American population." "exac.het.het_eas","Heterozygous count in ExAC East Asian population." "exac.het.het_fin","Heterozygous count in ExAC Finnish population." "exac.het.het_nfe","Heterozygous count in ExAC Non-Finnish European population." "exac.het.het_oth","Heterozygous count in ExAC Other population." "exac.het.het_sas","Heterozygous count in ExAC South Asian population." "exac.hom.hom_afr","Homozygous count in ExAC African/African American population." "exac.hom.hom_amr","Homozygous count in ExAC American population." "exac.hom.hom_eas","Homozygous count in ExAC East Asian population." "exac.hom.hom_fin","Homozygous count in ExAC Finnish population." "exac.hom.hom_nfe","Homozygous count in ExAC Non-Finnish European population." "exac.hom.hom_oth","Homozygous count in ExAC Other population." "exac.hom.hom_sas","Homozygous count in ExAC South Asian population." "exac.inbreedingcoeff","ExAC Inbreeding Coefficient." "exac.mq.mq","ExAC root mean square Mapping Quality." "exac.mq.mq0","ExAC count of reads with mapping quality 0." "exac.mq.mqranksum","ExAC MQRankSum test statistic (mapping quality difference ref vs alt)." "exac.ncc","ExAC number of chromosomes carrying the variant in hemizygous state. UNKNOWN." "exac.pos","Genomic position in ExAC (hg19)." "exac.qd","ExAC Quality by Depth score." "exac.readposranksum","ExAC ReadPosRankSum test statistic (position bias)." "exac.ref","Reference allele in ExAC format." "exac.type","Variant type in ExAC (e.g., snp)." "exac.vqslod","ExAC Variant Quality Score Log-Odds." "exac_nontcga._license","License information URL for the ExAC non-TCGA data source." "exac_nontcga.ac.ac","Total allele count in ExAC non-TCGA subset." "exac_nontcga.ac.ac_adj","Adjusted total allele count in ExAC non-TCGA subset." "exac_nontcga.ac.ac_afr","Allele count in ExAC non-TCGA African/African American population." "exac_nontcga.ac.ac_amr","Allele count in ExAC non-TCGA American population." "exac_nontcga.ac.ac_eas","Allele count in ExAC non-TCGA East Asian population." "exac_nontcga.ac.ac_female","Allele count in ExAC non-TCGA female population." "exac_nontcga.ac.ac_fin","Allele count in ExAC non-TCGA Finnish population." "exac_nontcga.ac.ac_het","Heterozygous allele count in ExAC non-TCGA subset." "exac_nontcga.ac.ac_hom","Homozygous allele count in ExAC non-TCGA subset." "exac_nontcga.ac.ac_male","Allele count in ExAC non-TCGA male population." "exac_nontcga.ac.ac_nfe","Allele count in ExAC non-TCGA Non-Finnish European population." "exac_nontcga.ac.ac_oth","Allele count in ExAC non-TCGA Other population." "exac_nontcga.ac.ac_sas","Allele count in ExAC non-TCGA South Asian population." "exac_nontcga.af","Allele frequency in ExAC non-TCGA subset." "exac_nontcga.alleles","Alternate allele(s) observed in ExAC non-TCGA subset." "exac_nontcga.alt","Alternate allele in ExAC non-TCGA format." "exac_nontcga.an.an","Total number of alleles genotyped in ExAC non-TCGA subset." "exac_nontcga.an.an_adj","Adjusted total number of alleles in ExAC non-TCGA subset." "exac_nontcga.an.an_afr","Number of alleles in ExAC non-TCGA African/African American population." "exac_nontcga.an.an_amr","Number of alleles in ExAC non-TCGA American population." "exac_nontcga.an.an_eas","Number of alleles in ExAC non-TCGA East Asian population." "exac_nontcga.an.an_female","Number of alleles in ExAC non-TCGA female population." "exac_nontcga.an.an_fin","Number of alleles in ExAC non-TCGA Finnish population." "exac_nontcga.an.an_male","Number of alleles in ExAC non-TCGA male population." "exac_nontcga.an.an_nfe","Number of alleles in ExAC non-TCGA Non-Finnish European population." "exac_nontcga.an.an_oth","Number of alleles in ExAC non-TCGA Other population." "exac_nontcga.an.an_sas","Number of alleles in ExAC non-TCGA South Asian population." "exac_nontcga.baseqranksum","ExAC non-TCGA BaseQRankSum test statistic." "exac_nontcga.chrom","Chromosome number in ExAC non-TCGA subset." "exac_nontcga.clippingranksum","ExAC non-TCGA ClippingRankSum test statistic." "exac_nontcga.culprit","ExAC non-TCGA VQSR culprit annotation." "exac_nontcga.fs","ExAC non-TCGA FisherStrand bias score." "exac_nontcga.het.het_afr","Heterozygous count in ExAC non-TCGA African/African American population." "exac_nontcga.het.het_amr","Heterozygous count in ExAC non-TCGA American population." "exac_nontcga.het.het_eas","Heterozygous count in ExAC non-TCGA East Asian population." "exac_nontcga.het.het_fin","Heterozygous count in ExAC non-TCGA Finnish population." "exac_nontcga.het.het_nfe","Heterozygous count in ExAC non-TCGA Non-Finnish European population." "exac_nontcga.het.het_oth","Heterozygous count in ExAC non-TCGA Other population." "exac_nontcga.het.het_sas","Heterozygous count in ExAC non-TCGA South Asian population." "exac_nontcga.hom.hom_afr","Homozygous count in ExAC non-TCGA African/African American population." "exac_nontcga.hom.hom_amr","Homozygous count in ExAC non-TCGA American population." "exac_nontcga.hom.hom_eas","Homozygous count in ExAC non-TCGA East Asian population." "exac_nontcga.hom.hom_fin","Homozygous count in ExAC non-TCGA Finnish population." "exac_nontcga.hom.hom_nfe","Homozygous count in ExAC non-TCGA Non-Finnish European population." "exac_nontcga.hom.hom_oth","Homozygous count in ExAC non-TCGA Other population." "exac_nontcga.hom.hom_sas","Homozygous count in ExAC non-TCGA South Asian population." "exac_nontcga.inbreedingcoeff","ExAC non-TCGA Inbreeding Coefficient." "exac_nontcga.mq.mq","ExAC non-TCGA root mean square Mapping Quality." "exac_nontcga.mq.mq0","ExAC non-TCGA count of reads with mapping quality 0." "exac_nontcga.mq.mqranksum","ExAC non-TCGA MQRankSum test statistic." "exac_nontcga.ncc","ExAC non-TCGA number of hemizygous chromosomes. UNKNOWN." "exac_nontcga.pos","Genomic position in ExAC non-TCGA (hg19)." "exac_nontcga.qd","ExAC non-TCGA Quality by Depth score." "exac_nontcga.readposranksum","ExAC non-TCGA ReadPosRankSum test statistic." "exac_nontcga.ref","Reference allele in ExAC non-TCGA format." "exac_nontcga.type","Variant type in ExAC non-TCGA (e.g., snp)." "exac_nontcga.vqslod","ExAC non-TCGA Variant Quality Score Log-Odds." "gnomad_exome._license","License information URL for the gnomAD exome data source." "gnomad_exome.ac.ac","Total allele count in gnomAD exomes." "gnomad_exome.ac.ac_afr","Allele count in gnomAD exomes African/African American population." "gnomad_exome.ac.ac_afr_female","Allele count in gnomAD exomes African/African American female population." "gnomad_exome.ac.ac_afr_male","Allele count in gnomAD exomes African/African American male population." "gnomad_exome.ac.ac_amr","Allele count in gnomAD exomes American population." "gnomad_exome.ac.ac_amr_female","Allele count in gnomAD exomes American female population." "gnomad_exome.ac.ac_amr_male","Allele count in gnomAD exomes American male population." "gnomad_exome.ac.ac_asj","Allele count in gnomAD exomes Ashkenazi Jewish population." "gnomad_exome.ac.ac_asj_female","Allele count in gnomAD exomes Ashkenazi Jewish female population." "gnomad_exome.ac.ac_asj_male","Allele count in gnomAD exomes Ashkenazi Jewish male population." "gnomad_exome.ac.ac_eas","Allele count in gnomAD exomes East Asian population." "gnomad_exome.ac.ac_eas_female","Allele count in gnomAD exomes East Asian female population." "gnomad_exome.ac.ac_eas_jpn","Allele count in gnomAD exomes East Asian Japanese population." "gnomad_exome.ac.ac_eas_kor","Allele count in gnomAD exomes East Asian Korean population." "gnomad_exome.ac.ac_eas_male","Allele count in gnomAD exomes East Asian male population." "gnomad_exome.ac.ac_eas_oea","Allele count in gnomAD exomes East Asian Other population." "gnomad_exome.ac.ac_female","Total allele count in gnomAD exomes female population." "gnomad_exome.ac.ac_fin","Allele count in gnomAD exomes Finnish population." "gnomad_exome.ac.ac_fin_female","Allele count in gnomAD exomes Finnish female population." "gnomad_exome.ac.ac_fin_male","Allele count in gnomAD exomes Finnish male population." "gnomad_exome.ac.ac_male","Total allele count in gnomAD exomes male population." "gnomad_exome.ac.ac_nfe","Allele count in gnomAD exomes Non-Finnish European population." "gnomad_exome.ac.ac_nfe_bgr","Allele count in gnomAD exomes NFE Bulgarian population." "gnomad_exome.ac.ac_nfe_est","Allele count in gnomAD exomes NFE Estonian population." "gnomad_exome.ac.ac_nfe_female","Allele count in gnomAD exomes NFE female population." "gnomad_exome.ac.ac_nfe_male","Allele count in gnomAD exomes NFE male population." "gnomad_exome.ac.ac_nfe_nwe","Allele count in gnomAD exomes NFE North-Western European population." "gnomad_exome.ac.ac_nfe_onf","Allele count in gnomAD exomes NFE Other Non-Finnish European population." "gnomad_exome.ac.ac_nfe_seu","Allele count in gnomAD exomes NFE Southern European population." "gnomad_exome.ac.ac_nfe_swe","Allele count in gnomAD exomes NFE Swedish population." "gnomad_exome.ac.ac_oth","Allele count in gnomAD exomes Other population." "gnomad_exome.ac.ac_oth_female","Allele count in gnomAD exomes Other female population." "gnomad_exome.ac.ac_oth_male","Allele count in gnomAD exomes Other male population." "gnomad_exome.ac.ac_sas","Allele count in gnomAD exomes South Asian population." "gnomad_exome.ac.ac_sas_female","Allele count in gnomAD exomes South Asian female population." "gnomad_exome.ac.ac_sas_male","Allele count in gnomAD exomes South Asian male population." "gnomad_exome.af.af","Overall allele frequency in gnomAD exomes." "gnomad_exome.af.af_afr","Allele frequency in gnomAD exomes African/African American population." "gnomad_exome.af.af_afr_female","Allele frequency in gnomAD exomes African/African American female population." "gnomad_exome.af.af_afr_male","Allele frequency in gnomAD exomes African/African American male population." "gnomad_exome.af.af_amr","Allele frequency in gnomAD exomes American population." "gnomad_exome.af.af_amr_female","Allele frequency in gnomAD exomes American female population." "gnomad_exome.af.af_amr_male","Allele frequency in gnomAD exomes American male population." "gnomad_exome.af.af_asj","Allele frequency in gnomAD exomes Ashkenazi Jewish population." "gnomad_exome.af.af_asj_female","Allele frequency in gnomAD exomes Ashkenazi Jewish female population." "gnomad_exome.af.af_asj_male","Allele frequency in gnomAD exomes Ashkenazi Jewish male population." "gnomad_exome.af.af_eas","Allele frequency in gnomAD exomes East Asian population." "gnomad_exome.af.af_eas_female","Allele frequency in gnomAD exomes East Asian female population." "gnomad_exome.af.af_eas_jpn","Allele frequency in gnomAD exomes East Asian Japanese population." "gnomad_exome.af.af_eas_kor","Allele frequency in gnomAD exomes East Asian Korean population." "gnomad_exome.af.af_eas_male","Allele frequency in gnomAD exomes East Asian male population." "gnomad_exome.af.af_eas_oea","Allele frequency in gnomAD exomes East Asian Other population." "gnomad_exome.af.af_female","Overall allele frequency in gnomAD exomes female population." "gnomad_exome.af.af_fin","Allele frequency in gnomAD exomes Finnish population." "gnomad_exome.af.af_fin_female","Allele frequency in gnomAD exomes Finnish female population." "gnomad_exome.af.af_fin_male","Allele frequency in gnomAD exomes Finnish male population." "gnomad_exome.af.af_male","Overall allele frequency in gnomAD exomes male population." "gnomad_exome.af.af_nfe","Allele frequency in gnomAD exomes Non-Finnish European population." "gnomad_exome.af.af_nfe_bgr","Allele frequency in gnomAD exomes NFE Bulgarian population." "gnomad_exome.af.af_nfe_est","Allele frequency in gnomAD exomes NFE Estonian population." "gnomad_exome.af.af_nfe_female","Allele frequency in gnomAD exomes NFE female population." "gnomad_exome.af.af_nfe_male","Allele frequency in gnomAD exomes NFE male population." "gnomad_exome.af.af_nfe_nwe","Allele frequency in gnomAD exomes NFE North-Western European population." "gnomad_exome.af.af_nfe_onf","Allele frequency in gnomAD exomes NFE Other Non-Finnish European population." "gnomad_exome.af.af_nfe_seu","Allele frequency in gnomAD exomes NFE Southern European population." "gnomad_exome.af.af_nfe_swe","Allele frequency in gnomAD exomes NFE Swedish population." "gnomad_exome.af.af_oth","Allele frequency in gnomAD exomes Other population." "gnomad_exome.af.af_oth_female","Allele frequency in gnomAD exomes Other female population." "gnomad_exome.af.af_oth_male","Allele frequency in gnomAD exomes Other male population." "gnomad_exome.af.af_sas","Allele frequency in gnomAD exomes South Asian population." "gnomad_exome.af.af_sas_female","Allele frequency in gnomAD exomes South Asian female population." "gnomad_exome.af.af_sas_male","Allele frequency in gnomAD exomes South Asian male population." "gnomad_exome.alleles","Alternate allele(s) observed in gnomAD exomes." "gnomad_exome.alt","Alternate allele in gnomAD exome format." "gnomad_exome.an.an","Total number of alleles genotyped in gnomAD exomes." "gnomad_exome.an.an_afr","Number of alleles in gnomAD exomes African/African American population." "gnomad_exome.an.an_afr_female","Number of alleles in gnomAD exomes African/African American female population." "gnomad_exome.an.an_afr_male","Number of alleles in gnomAD exomes African/African American male population." "gnomad_exome.an.an_amr","Number of alleles in gnomAD exomes American population." "gnomad_exome.an.an_amr_female","Number of alleles in gnomAD exomes American female population." "gnomad_exome.an.an_amr_male","Number of alleles in gnomAD exomes American male population." "gnomad_exome.an.an_asj","Number of alleles in gnomAD exomes Ashkenazi Jewish population." "gnomad_exome.an.an_asj_female","Number of alleles in gnomAD exomes Ashkenazi Jewish female population." "gnomad_exome.an.an_asj_male","Number of alleles in gnomAD exomes Ashkenazi Jewish male population." "gnomad_exome.an.an_eas","Number of alleles in gnomAD exomes East Asian population." "gnomad_exome.an.an_eas_female","Number of alleles in gnomAD exomes East Asian female population." "gnomad_exome.an.an_eas_jpn","Number of alleles in gnomAD exomes East Asian Japanese population." "gnomad_exome.an.an_eas_kor","Number of alleles in gnomAD exomes East Asian Korean population." "gnomad_exome.an.an_eas_male","Number of alleles in gnomAD exomes East Asian male population." "gnomad_exome.an.an_eas_oea","Number of alleles in gnomAD exomes East Asian Other population." "gnomad_exome.an.an_female","Total number of alleles in gnomAD exomes female population." "gnomad_exome.an.an_fin","Number of alleles in gnomAD exomes Finnish population." "gnomad_exome.an.an_fin_female","Number of alleles in gnomAD exomes Finnish female population." "gnomad_exome.an.an_fin_male","Number of alleles in gnomAD exomes Finnish male population." "gnomad_exome.an.an_male","Total number of alleles in gnomAD exomes male population." "gnomad_exome.an.an_nfe","Number of alleles in gnomAD exomes Non-Finnish European population." "gnomad_exome.an.an_nfe_bgr","Number of alleles in gnomAD exomes NFE Bulgarian population." "gnomad_exome.an.an_nfe_est","Number of alleles in gnomAD exomes NFE Estonian population." "gnomad_exome.an.an_nfe_female","Number of alleles in gnomAD exomes NFE female population." "gnomad_exome.an.an_nfe_male","Number of alleles in gnomAD exomes NFE male population." "gnomad_exome.an.an_nfe_nwe","Number of alleles in gnomAD exomes NFE North-Western European population." "gnomad_exome.an.an_nfe_onf","Number of alleles in gnomAD exomes NFE Other Non-Finnish European population." "gnomad_exome.an.an_nfe_seu","Number of alleles in gnomAD exomes NFE Southern European population." "gnomad_exome.an.an_nfe_swe","Number of alleles in gnomAD exomes NFE Swedish population." "gnomad_exome.an.an_oth","Number of alleles in gnomAD exomes Other population." "gnomad_exome.an.an_oth_female","Number of alleles in gnomAD exomes Other female population." "gnomad_exome.an.an_oth_male","Number of alleles in gnomAD exomes Other male population." "gnomad_exome.an.an_sas","Number of alleles in gnomAD exomes South Asian population." "gnomad_exome.an.an_sas_female","Number of alleles in gnomAD exomes South Asian female population." "gnomad_exome.an.an_sas_male","Number of alleles in gnomAD exomes South Asian male population." "gnomad_exome.baseqranksum","gnomAD exome BaseQRankSum test statistic." "gnomad_exome.chrom","Chromosome number in gnomAD exomes." "gnomad_exome.clippingranksum","gnomAD exome ClippingRankSum test statistic." "gnomad_exome.dp","Total read depth at the variant position in gnomAD exomes." "gnomad_exome.fs","gnomAD exome FisherStrand bias score." "gnomad_exome.hom.hom","Total homozygous count in gnomAD exomes." "gnomad_exome.hom.hom_afr","Homozygous count in gnomAD exomes African/African American population." "gnomad_exome.hom.hom_afr_female","Homozygous count in gnomAD exomes African/African American female population." "gnomad_exome.hom.hom_afr_male","Homozygous count in gnomAD exomes African/African American male population." "gnomad_exome.hom.hom_amr","Homozygous count in gnomAD exomes American population." "gnomad_exome.hom.hom_amr_female","Homozygous count in gnomAD exomes American female population." "gnomad_exome.hom.hom_amr_male","Homozygous count in gnomAD exomes American male population." "gnomad_exome.hom.hom_asj","Homozygous count in gnomAD exomes Ashkenazi Jewish population." "gnomad_exome.hom.hom_asj_female","Homozygous count in gnomAD exomes Ashkenazi Jewish female population." "gnomad_exome.hom.hom_asj_male","Homozygous count in gnomAD exomes Ashkenazi Jewish male population." "gnomad_exome.hom.hom_eas","Homozygous count in gnomAD exomes East Asian population." "gnomad_exome.hom.hom_eas_female","Homozygous count in gnomAD exomes East Asian female population." "gnomad_exome.hom.hom_eas_jpn","Homozygous count in gnomAD exomes East Asian Japanese population." "gnomad_exome.hom.hom_eas_kor","Homozygous count in gnomAD exomes East Asian Korean population." "gnomad_exome.hom.hom_eas_male","Homozygous count in gnomAD exomes East Asian male population." "gnomad_exome.hom.hom_eas_oea","Homozygous count in gnomAD exomes East Asian Other population." "gnomad_exome.hom.hom_female","Total homozygous count in gnomAD exomes female population." "gnomad_exome.hom.hom_fin","Homozygous count in gnomAD exomes Finnish population." "gnomad_exome.hom.hom_fin_female","Homozygous count in gnomAD exomes Finnish female population." "gnomad_exome.hom.hom_fin_male","Homozygous count in gnomAD exomes Finnish male population." "gnomad_exome.hom.hom_male","Total homozygous count in gnomAD exomes male population." "gnomad_exome.hom.hom_nfe","Homozygous count in gnomAD exomes Non-Finnish European population." "gnomad_exome.hom.hom_nfe_bgr","Homozygous count in gnomAD exomes NFE Bulgarian population." "gnomad_exome.hom.hom_nfe_est","Homozygous count in gnomAD exomes NFE Estonian population." "gnomad_exome.hom.hom_nfe_female","Homozygous count in gnomAD exomes NFE female population." "gnomad_exome.hom.hom_nfe_male","Homozygous count in gnomAD exomes NFE male population." "gnomad_exome.hom.hom_nfe_nwe","Homozygous count in gnomAD exomes NFE North-Western European population." "gnomad_exome.hom.hom_nfe_onf","Homozygous count in gnomAD exomes NFE Other Non-Finnish European population." "gnomad_exome.hom.hom_nfe_seu","Homozygous count in gnomAD exomes NFE Southern European population." "gnomad_exome.hom.hom_nfe_swe","Homozygous count in gnomAD exomes NFE Swedish population." "gnomad_exome.hom.hom_oth","Homozygous count in gnomAD exomes Other population." "gnomad_exome.hom.hom_oth_female","Homozygous count in gnomAD exomes Other female population." "gnomad_exome.hom.hom_oth_male","Homozygous count in gnomAD exomes Other male population." "gnomad_exome.hom.hom_sas","Homozygous count in gnomAD exomes South Asian population." "gnomad_exome.hom.hom_sas_female","Homozygous count in gnomAD exomes South Asian female population." "gnomad_exome.hom.hom_sas_male","Homozygous count in gnomAD exomes South Asian male population." "gnomad_exome.inbreedingcoeff","gnomAD exome Inbreeding Coefficient." "gnomad_exome.mq.mq","gnomAD exome root mean square Mapping Quality." "gnomad_exome.mq.mqranksum","gnomAD exome MQRankSum test statistic." "gnomad_exome.pab_max","Maximum P(AB) value from gnomAD exomes. UNKNOWN significance." "gnomad_exome.pos","Genomic position in gnomAD exomes (hg19)." "gnomad_exome.qd","gnomAD exome Quality by Depth score." "gnomad_exome.readposranksum","gnomAD exome ReadPosRankSum test statistic." "gnomad_exome.ref","Reference allele in gnomAD exome format." "gnomad_exome.rf","Random Forest probability score from gnomAD exomes. UNKNOWN usage." "gnomad_exome.rsid","Associated dbSNP rsID from gnomAD exomes." "gnomad_exome.sor","gnomAD exome Strand Odds Ratio score." "gnomad_exome.type","Variant type in gnomAD exomes (e.g., snp)." "gnomad_exome.vqslod","gnomAD exome Variant Quality Score Log-Odds." "gnomad_exome.vqsr_culprit","gnomAD exome VQSR culprit annotation." "hg19.end","End position in hg19 assembly." "hg19.start","Start position in hg19 assembly." "mutdb._license","License information URL for the MutDB data source." "mutdb.alt","Alternate allele in MutDB." "mutdb.chrom","Chromosome number in MutDB." "mutdb.cosmic_id","Associated COSMIC ID(s) from MutDB." "mutdb.hg19.end","End position in hg19 assembly (MutDB)." "mutdb.hg19.start","Start position in hg19 assembly (MutDB)." "mutdb.mutpred_score","MutPred score reported by MutDB." "mutdb.ref","Reference allele in MutDB." "mutdb.rsid","Associated dbSNP rsID from MutDB." "mutdb.strand","Genomic strand reported by MutDB (m indicates '-')." "mutdb.uniprot_id","Associated UniProt variant ID from MutDB." "observed","Boolean indicating if the variant is observed in aggregated datasets." "snpeff._license","License information URL for the SnpEff data source." "snpeff.ann.cdna.length","Length of the cDNA sequence for the annotated transcript." "snpeff.ann.cdna.position","Position of the variant within the cDNA sequence." "snpeff.ann.cds.length","Length of the coding sequence (CDS) for the annotated transcript." "snpeff.ann.cds.position","Position of the variant within the coding sequence (CDS)." "snpeff.ann.effect","Predicted sequence ontology effect of the variant (e.g., missense_variant)." "snpeff.ann.feature_id","Feature ID (usually transcript ID like NM_004333.4) for the annotation." "snpeff.ann.feature_type","Type of feature annotated (e.g., transcript)." "snpeff.ann.gene_id","Gene symbol or ID associated with the annotation." "snpeff.ann.genename","Gene name associated with the annotation." "snpeff.ann.hgvs_c","HGVS coding sequence notation from SnpEff." "snpeff.ann.hgvs_p","HGVS protein sequence notation from SnpEff." "snpeff.ann.protein.length","Length of the protein sequence for the annotated transcript." "snpeff.ann.protein.position","Position of the amino acid change within the protein." "snpeff.ann.putative_impact","SnpEff predicted impact category (e.g., MODERATE, HIGH)." "snpeff.ann.rank","Rank of the annotation (exon/intron rank)." "snpeff.ann.total","Total number of exons/introns in the transcript." "snpeff.ann.transcript_biotype","Biotype of the transcript (e.g., protein_coding)." "vcf.alt","Alternate allele in VCF format." "vcf.position","Position of the variant in VCF format (hg19)." "vcf.ref","Reference allele in VCF format."