The variant consequence grouping.

We grouped the Ensembl’s variant effect predictor (VEP)-predicted consequence of the genetic variants into six groups (Consequence group): protein-truncating variants (PTVs), protein-altering variants (PAVs), protein-coding variants (PCVs), intronic variants (Intronic), variants in untranslated region (UTR), and other non-coding variants (Others). The links to the sequence ontology (SO) term detailing the definition of each of the predicted consequences are shown. (XLSX)