Table 1.

Summary of cell types analyzed in this study. For LCL and iPSC samples, ‘unique individuals’ excludes repeated clones or sequencing of the same individual. In HAP1, all cell lines were derived from a single individual therefore ‘unique mutant samples’ signifies different KO types. HAP1 also includes 26 KO lines involving 22 genes with three genes having multiple KO clones. Among the 26 KO lines, some were sequenced before and after diploidization and are considered the same unique mutant sample. See Supplementary Material, Table S1 for more details

Cell type	WT/unaffected samples	Unique WT/unaffected individuals	Mutant/affected samples	Unique mutant/affected samples	Unique genetic diseases or genes affected
LCL	137	124	134	117	32
HAP1	6	1	32	26	21
iPSC	24	24	18	11	7