GlyGen Variation TSV Release 2020_03 ==================================== * dbSNP-homo-sapiens.tsv.gz * dbSNP-mus-musculus.tsv.gz * dbSNP-rattus-norvegicus.tsv.gz Variation data is from UniProt using API calls: curl -X GET --header 'Accept:application/json' 'https://www.ebi.ac.uk/proteins/api/variation?offset=0&size=-1&taxid=9606' > UP000005640_9606.dbSnp.json curl -X GET --header 'Accept:application/json' 'https://www.ebi.ac.uk/proteins/api/variation?offset=0&size=-1&taxid=10090' > UP000000589_10090.dbSnp.json curl -X GET --header 'Accept:application/json' 'https://www.ebi.ac.uk/proteins/api/variation?offset=0&size=-1&taxid=10116' > UP000002494_10116.dbSnp.json Input JSON is parsed to get 30 columns: > uniprotkb_accession > gene_name > protein_name > data_source [list of comma separated data source names for given dbsnp_id] > dbsnp_id > cosmic_id > description [variant description] > evidence_ECO:0000269 [list of comma separated variant_evidence_database_name:variant_evidence_database_id for ECO:0000269] > evidence_ECO:0000313 [list of comma separated variant_evidence_database_name:variant_evidence_database_id for ECO:0000313] > cytogenic_band > chromosome_id > position > ref_allele > alt_allele > ref_aa > alt_aa > begin_aa_pos > end_aa_pos > frequency > mutation_type > polyphen_score > polyphen_prediction > sift_score > sift_prediction > somatic_status [1 - somatic variant, 0 - germline] > disease > disease_description > disease_xrefs [list of comma separated disease_xref_database:disease_xref_database_id (per disease)] > disease_evidence_ECO:0000269 [list of comma separated disease_evidence_database_name:disease_evidence_database_id for ECO:0000269] > disease_evidence_ECO:0000313 [list of comma separated disease_evidence_database_name:disease_evidence_database_id for ECO:0000313] A variant info is included in dataset only if it has > valid dbSNP id starting with rs OR valid cosmic id starting with COSM > valid genomic location starting with NC Each variant may have zero or more diseases. Each row in dataset corresponds to zero or one disease info with complete variant info.