TogoVar Downloadable data

Last Updated: 2024/6/27

## Molecular annotation

Key values that identify one record: tgv_id and transcript_id

Variable name                         Description
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tgv_id                                :Togovar ID
rs                                    :dbSNP rs number
chr                                   :chromosome number
position_grch38                       :chromosomal position on GRCh38
ref                                   :reference allele
alt                                   :alternative allele
symbol                                :HGNC gene symbol
transcript_id                         :Ensembl transcript ID
consequence                           :molecular consequence predicted by Variant Effective Predictor
sift_qualitative_prediction           :qualitative prediction by SIFT
sift_score                            :SIFT score
polyphen2_qualitative_prediction      :qualitative prediction by PolyPhen2
polyphen2_score                       :PolyPhen2 score
alphamissense_pathogenicity           :variant classification by AlphaMissense: 'Likely pathogenic', 'Likely benign', 'ambiguous'. Details: https://asia.ensembl.org/info/docs/tools/vep/script/vep_plugins.html#alphamissense
alphamissense_score                   :a continuous score between 0 and 1 predicted by AlphaMissense