1. Variation datasets affecting protein tolerance

ToolScores datasets

This Archive contains filtered versions of five publicly available benchmark datasets for pathogenicity prediction compiled by Grimm et Al.:

• filtered subset of HumVar (Adzhubei et al., 2010). Download: HumVarFiltered variants
• filtered subset of ExoVar (Li et al., 2013). Download: ExoVarFiltered variants
• filtered subset of VariBench (Thusberg et al., 2011; Nair and Vihinen, 2013). Download: VariBenchSelected variants
• filtered subset of predictSNP (Bendl et al., 2014). Download: PredictSNPSelected variants
• filtered subset of SwissVar Dec. 2014 (Mottaz et al., 2010). Download: SwissVarSelected variants

A description of the columns used in these datasets can be found here

Reference:
Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M., 2015.
Evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
Hum Mutat.doi:10.1002/humu.22768.   PUBMED