We next examined the distribution of functionally important variation, functionally important singletons, and the proportion of functionally important SNVs per individual (Fig. 4D) by using both conservative and more liberal criteria (18). On average, individuals possess between 318 and 580 predicted functional protein-coding SNVs depending on how functional variants are defined, with slightly more in AA than in EA individuals (Fig. 4D). The average number of predicted functional singletons per individual was more robust to the definition of functional variants, ranged from 25 to 31, and was slightly higher in AA compared to EA individuals (Fig. 4D). In both cases, however, there was more variation among individuals than between populations.
