Table 2.

Whole exome sequencing detail of the proband

Exome Capture Statistics	Proband
Raw reads (bp)	95,647,462
Duplicate (bp)	19,025,592
Mapped (%)	99.71
Properly mapped (%)	99.15
Initial bases on target (bp)	60,456,963
Total effective yield (Mb)	14270.28
Effective yield on target (Mb)	10681.05
Bases covered on target (bp)	60,160,986
Coverage of target region (%)	99.5
Fraction of effective bases on target (%)	74.8
Average sequence depth on target (X)	176.67
Fraction of target region covered >=10X (%)	98.1
Fraction of target region covered >=4X (%)	99.1
Gender	Female