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Table 1 Overview of somatic mutations in primary tumour. The sequencing libraries were generated using the SureSelectXT protocol and a 900 cancer-related custom SureSelect in-solution capture gene panel

From: Use of liquid biopsies to monitor disease progression in a sarcoma patient: a case report

Gene Position Reference allele Mutated allele Codon change Allele frequency tumour Depth tumour Consequence
COL2A1 chr12:48372367 G C NA 96.0 725 Intron variant
NF1 chr17:29527612 A G p.K354R 92.9 438 Missense variant
PTGS2 chr1:186644059 C A NA 64.0 39 Intron variant
LRP2 chr2:170009376 G C p.Q4132E 61.0 443 Missense variant
KRAS chr12:25398284 C A p.G12V 60.4 699 Missense variant
PRRC2C chr1:171510380 A G p.R1257G 29.0 807 Missense variant
GATA6 chr18:19751192 G T p.A29A 18.9 920 Synonymous variant
PRG4 chr1:186277624 CGTACTACACCT C p.R791fs,p.R884fs,p.R832fs,p.R925fs 10.6 810 Frameshift variant & feature truncation