Table 1.

Genome sequencing results

Gene	Chr	HGVS cDNA	HGVS protein	Allele origin	Predicted effect	Read depth of variant position	Variant allele frequency, tumor N reads (%)
BRAF	7q34	NM_004333.4: c.1794_1796dupTAC	p.Thr599dup	Somatic	Increased kinase activity (Eisenhardt et al. 2011)	WGS: 60× WES: 172×	WGS: 5/60 (8.3%) WES: 6/172 (3.5%)

HGVS, Human Genome Variation Society; WGS, whole-genome sequencing; WES, whole-exome sequencing