this post was submitted on 13 May 2026
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I'm not familiar with the name of the file I'm currently working with tbh. It's used to create the annotation files for regenie analyses. It has every variant for every gene within the biobank. There's far more than just missense; there are stop/start gain/loss, splice donor/acceptor, frameshifts, and ptv. It contains primateAI scores, spliceAI scores, cava data, clinvar data, and more.