Source data
Name Version Url
Entrez Gene Info 20240618 ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/gene_info.gz
Gencode Transcript 46 ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_46/gencode.v46.basic.annotation.gff3.gz
Gencode Transcript (hg19 overlifted) 46 ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_46/GRCh37_mapping/gencode.v46lift37.basic.annotation.gff3.gz
Gencode transcript metadata 46
Disease Ontology 20240618 https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/main/src/ontology/HumanDO.obo
dbSNP VCF(hg19) b156 ftp://ftp.ncbi.nih.gov/snp/archive/b156/VCF/GCF_000001405.25.gz
dbSNP VCF(hg38) b156 ftp://ftp.ncbi.nih.gov/snp/archive/b156/VCF/GCF_000001405.40.gz
ClinVar 2024-06 ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/RCV_xml_old_format/ClinVarFullRelease_2024-06.xml.gz
variant_summary 2024-06 ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz
HGVD 2.30 http://www.hgvd.genome.med.kyoto-u.ac.jp/HGVD1210-V2_30-dbSNP150.tar.gz
ToMMo 8.3KJPN Allele Frequency Panel(v20200831) v20200831 https://jmorp.megabank.tohoku.ac.jp/202008/downloads#variant
ExAC 1 https://storage.googleapis.com/gnomad-public/legacy/exac_browser/ExAC.r1.sites.vep.vcf.gz
MMMP 20110329 http://www.mmmp.org/
DisGeNET 4.0 http://www.disgenet.org/web/DisGeNET/menu
Drug list of Screening Committee of Anticancer Drugs 20160209 https://scads.jfcr.or.jp/db/table.html
CIViC Variant 2020-05-01 https://civicdb.org/downloads/01-May-2020/01-May-2020-VariantSummaries.tsv
CIViC Evidence 2020-05-01 https://civicdb.org/downloads/01-May-2020/01-May-2020-ClinicalEvidenceSummaries.tsv
Clinical Trials 20240617 https://clinicaltrials.gov/
MSS TSG/Oncogene List 1.01
GWAS EFO Mapping 20200520 http://ftp.ebi.ac.uk/pub/databases/gwas/releases/2020/05/20/gwas-efo-trait-mappings.tsv
GWAS Catalog 20200520 http://ftp.ebi.ac.uk/pub/databases/gwas/releases/2020/05/20/gwas-catalog-associations.tsv
Human Phenotype Ontology 2018-07-25 https://hpo.jax.org
OMIM 20180523 https://www.omim.org/
Orphanet 2.6 https://www.orpha.net/
MedGen Concept name 20180516 https://ftp.ncbi.nlm.nih.gov/pub/medgen/
Insert disease from ICD10 2016
MeSH (Medical Subject Headings) 20180711 https://www.ncbi.nlm.nih.gov/mesh
dbNSFP 3.5c https://sites.google.com/site/jpopgen/dbNSFP
Cosmic Occurrence 85 https://cancer.sanger.ac.uk/cosmic