A notable class of variants is the 228,966 putative loss-of-function (pLOF) variants that we observed in 18,493 (95.0%) GENCODE15 genes (Extended Data Table 5 and Supplementary Fig. 12). This class includes the highest proportion of singletons among all of the variant classes that we examined. An average individual carried 2.5 unique pLOF variants. We identified more pLOF variants per individual than in previous surveys based on exome sequencing—an increase that was mainly driven by the identification of additional frameshift variants (Supplementary Table 6) and by a more uniform and complete coverage of protein-coding regions (Supplementary Figs. 13, 14).
