TABLE 2.

The summary report of data analysis from the WES.

Analytical characteristic	Patient 1 (Proband IV-2)	Patient 2 (Proband IV-1)	Patient 3 (Proband V-3)
Total number of reads	74,227,000	55,298,288	72,367,238
Average read length (bp)	101	101	101
Target Region (Mbp)	60	60	60
% Bases QV>30	98.26	98.59	98.15
% Initial Mappable Reads	99	99	99
% Minimum coverage of target regions (for depth 1X, 5X and 10X)	99.8, 99.4 and 98.6	99.7, 99.2 and 97.4	97.8, 97.3 and 96.3
% of duplicate reads (pre-alignment)	24	20.5	29.24
% of duplicate reads (post-alignment)	6	5	8.7
% On Target Reads (post-alignment)	72	70	77
% Coverage >25X	91.34	81.77	88.41
% Coverage >50X	62.97	45.94	60.94
# of SNV	126,424	117,459	117,960
# of Stop Gained	90	104	91
# of Indels	12,603	10,527	11,116