Table 2.

Results of cancer hot‐spot sequencing

Sample code	Gene	Locus	Type	Ref	Genotype	Variant Allele Frequency	Exon	Protein
A1	PIK3CA	chr3:178952085	SNV	A	A/T	0.15	21	p.His1047Leu
A2	JAK3	chr19:17945696	SNV	C	C/T	0.54	16	p.Val722Ile
A3	‐	‐	‐	‐	‐	‐	‐	‐
A4	PDGFRAPTENSTK11	chr4:55141026chr10:89717676chr19:1220394	SNVSNVSNV	GCG	G/AC/TG/A	0.070.070.06	7124	p.Arg234Gln p.Arg558Cys p.Gly163Ser
B1	PIK3CARET	chr3:178952085chr10:43609955	SNVSNV	AC	A/GC/T	0.060.06	2111	p.His1047Arg p.Thr636Met
B2	PIK3CA	chr3:178952085	SNV	A	A/G	0.08	21	p.His1047Arg
B3	ATMJAK3PIK3CA	chr11:108138003chr19:17945696chr3:178952085	SNVSNVSNV	TCA	T/CC/TA/G	0.600.470.15	171621	p.Phe858Leu p.Val722Ile p.His1047Arg
B4	PIK3CA	chr3:178952085	SNV	A	A/G	0.08	21	p.His1047Arg
B5	PIK3CA	chr3:178952085	SNV	A	A/G	0.26	21	p.His1047Arg
B6	ATMPIK3CA	chr11:108155132chr3:178952085	SNVSNV	GA	G/AA/G	0.480.28	2621	p.Ala1309Thr p.His1047Arg
B7	‐	‐	‐	‐	‐	‐	‐	‐
B8	SMAD4PIK3CA	chr18:4860475chr3:178952085	SNVSNV	AA	A/GA/G	0.520.27	1221	p.Ile525Val p.His1047Arg
B9	‐	‐	‐	‐	‐	‐	‐	‐
B10	PIK3CA	chr3:178936091	SNV	G	G/A	0.19	10	p.Glu545Lys
B11	PIK3CA	chr3:178936091	SNV	G	G/A	0.16	10	p.Glu545Lys
B12	PIK3CASMARCB1	chr3:178952085chr22:24134064	SNVSNV	AC	A/GC/A	0.260.06	212	p.His1047Arg p.Thr72Lys
B13	‐	‐	‐	‐	‐	‐	‐	‐
C1	PIK3CA	chr3:178952085	SNV	A	A/T	0.16	21	p.His1047Leu
C2	AKT1	chr14:105246551	SNV	C	C/T	0.08	3	p.Glu17Lys
C3	SMARCB1	chr22:24134064	SNV	C	C/A	0.06	2	p.Thr72Lys
C4	PIK3CA	chr3:178952085	SNV	A	A/T	0.17	21	p.His1047Leu

Sample codes: A1–A4 = LGASC, B1–B13 = RSL, C1–C4 = PBD controls.

Genotype codes: A: adenine. C: cytosine. G: guanine. T: thymine. SNV: single nucleotide variant.