Table 1.

Mutations in relapsed tumor detected by targeted gene sequencing panel

Gene	Chromosome	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect	dbSNP/dbVar ID	Genotype (hetero zygous/homozygous)	ClinVar ID
ALK	Chr 2:29220829 (GRCh38.p12)	NC_000002.12:g.29220829G > C	NP_004295.2: p.Phe1174Leu	Missense	Substitution	rs863225281	VAF 27%	VCV000217852.1
PIK3CA	Chr 3:179221045 (GRCh38.p12)	NC_000003.12: g.179221045del	NP_006209.2: p.Cys692Phefs*8	Single-base pair deletion	Frameshift		VAF 26%	VCV000988765.1

(VAF) Variant allele frequency.