TABLE 3.

Classification of novel single nucleotide variants.

Gene	Localization	Variant	Reads var/wt (VAF a )	Type of variant	Franklin	Cosmic	Cancer genome interpreter
CREBBP	HAT (histone acetylase protein) domain	NM_004380.3:c.5422G>T; NP_004371.2: p.Gly1542Val	39/0 (1)	missense	TIER3, VUS	NA, G1542S, G1542D	Driver
CSF3R	extracellular domain, loop	NM_000760.4:c.439G>C; NP_000751.1: p.Gly147Arg	92/82 (0.52)	missense	TIER2, VUS	1 report in basal cell carcinoma	Driver
DUX4	homeodomain, DNA interaction site	NM_001306068.3:c.194T>A; NP_001292997.1: p.Ile65Asn	657/0 (1)	missense	TIER3, VUS	No substitutions in DUX4	NA

^a in RNA-seq. VAF: variant allele frequency; VUS: variant of uncertain significance; NA: not available.