| Entrez Gene Info |
20230620 |
ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/gene_info.gz |
| Gencode Transcript |
43 |
ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_43/gencode.v43.basic.annotation.gff3.gz |
| Gencode Transcript (hg19 overlifted) |
43 |
ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_43/GRCh37_mapping/gencode.v43lift37.basic.annotation.gff3.gz |
| Gencode transcript metadata |
43 |
https://www.gencodegenes.org/human/release_43.html |
| Disease Ontology |
20210329 |
https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2021-03-29/src/ontology/HumanDO.obo |
| dbSNP VCF(hg19) |
b154 |
ftp://ftp.ncbi.nih.gov/snp/archive/b154/VCF/GCF_000001405.25.gz |
| dbSNP VCF(hg38) |
b154 |
ftp://ftp.ncbi.nih.gov/snp/archive/b154/VCF/GCF_000001405.38.gz |
| ClinVar |
2022-06 |
ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/archive/2022/ClinVarFullRelease_2022-06.xml.gz |
| variant_summary |
2022-06 |
ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/variant_summary_2022-06.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 |
| Clinical Trials |
20210606 |
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 |