WES Parameters*	Proband	Father	Mother
Captured target size	62 Mb	62 Mb	62 Mb
% target covered by 10+ reads	90.5%	89.1%	89.3%
Mean read depth of target region	77.1X	63.9X	72.4X
Total number of SNPs	46,049	46,063	45,521
Total number of INDELs	4,590	4,541	4,414
N rare variants	1,951	1,986	1,809
N compound heterozygous variants	29	N/A	N/A
N X linked	158	137	154
N de novo events	383	N/A	N/A

^*Values are limited to variants mapping to the TruSeq target region. Rare variants and X-linked variants are defined as having allele frequencies <1% in ESP5000 (from NHLBI EVS), 1000G and CG52. Compound heterozygous variants are restricted to non-synonymous variants shared heterozygous with each parent and with allele frequencies of <1% in each reference database. De novo events are defined as all variants in the TruSeq target region which are seen in neither parent and are absent from dbSNP, EVS5000, 1000G and 52 unrelated control individuals