Table 2.

Detection of CSF-tDNA using WES

Patient and sample typeMutationGenomic coordinateDistinct coverage (SafeSeqS)Mutant (%; SafeSeqS)Distinct coverage (WES)Mutant (%; WES)
CGLI 03
 CSFPIK3R1 p.N564D, c.A1690GChr5:6759109757,9210.1760.0
 NormalPIK3R1 p.N564D, c.A1690GChr5:675910972840.0610.0
 Primary tumorPIK3R1 p.N564D, c.A1690GChr5:6759109737738.714712.9
CGLI 29
 CSFTP53 p.R248W, c.C742TChr17:757753913,9640.2640.0
 NormalTP53 p.R248W, c.C742TChr17:7577539NA0.0550.0
 Primary tumorTP53 p.R248W, c.C742TChr17:75775396,41869.05870.7
CGLI 36
 CSFTP53 p.R248W, c.C742TChr17:7577539376,43414.3749.5
 NormalTP53 p.R248W, c.C742TChr17:757753957,8180.0750.0
 Primary tumorTP53 p.R248W, c.C742TChr17:757753944,98165.02572.0
CGLI 55
 CSFPTEN p.R130*, c.C388TChr10:89692904251,60933.26342.9
 Primary tumorPTEN p.R130*, c.C388TChr10:8969290491,51565.95666.1
  • Genomic coordinates refer to the human reference genome hg19 release (Genome Reference Consortium GRCh37, February of 2009). NA, not available.