Table 1. Validation rates for mutations detected from WES.

Rates at which predicted PZMs from WES were also found to be de novo with unequal AAFs using three different technologies.

Phase 1: Resequencing of initial 50 mutations to evaluate if AAFs≤40%
	High-confidence PZMs from Group C	Less stringent PZMs found in Group B but not Group C	Potential germline de novos found in Group A but not Group B
CloneSeq	14 / 16 (87.5%)	7 / 28 (25%)	1 / 5 (20%)
Pyrosequencing	13 / 15 (87%)	10 / 26 (38%)	2 / 5 (40%)
Targeted PCR + MiSeq	14 / 15 (93.3%)	6 / 24 (25%)	0 / 3 (0%)
Phase 2: Resequencing of 181 mutations to evaluate if AAFs≤40%
Pyrosequencing	28 / 33 (84.8%)	20 / 78 (25.6%)	-
Targeted PCR + MiSeq	52 / 61 (85.2%)	10 / 73 (13.7%)	1 / 12 (8.3%)
Phase 3: Resequencing of 325 mutations to evaluate if AAFs≤40%
Targeted PCR + MiSeq	159 / 164 (97.0%)	3 / 17 (17.6%)	4 / 144 (2.8%)