Deleteriousness of PTVs. (A) Fractions of variants that are potentially deleterious (CADD ≥ 30) for each functional category and location of variants. Note, head, body, and tail are defined as CDS position of <10%, 10%–90%, and >90%, respectively. (B) Fractions of deleterious variants under purifying selection (f) for protein-truncating (PTV, red) and missense (Mis, green) variants across 19,973 Chinese (CHN, dark) and 4327 East Asians (EAS-ExAC, light). (C–F) Fractions of deleterious variants that are subject to purifying selection (f) for PTVs across CHN from B grouped by CDS positions (C), variant types (D), consequence (E), and gene sets (F). Note that theoretical 95% confidence intervals are obtained via bootstrapping of 1000 replications and shown as error bars.