Table 1.

The intended results, validation results, and results from 24 data sets of the SCQCMs.

Sample No.GeneTranscript IDVariantIntended AFValidated using NGSNo. Correct/Total challengesErrors
VariantAF
AEGFRNM_005228.3c.2369C>T (p.Thr790Met)2.5%NM_005228.3 (EGFR):c.2369C>T(p.Thr790Met) (p.Thr790Met)1.64%95.9% (23/24)2 FNs (T790M, L858R); 1FP (V600E)
EGFRNM_005228.3c.2573T>G (p.Leu858Arg)2.5%NM_005228.3 (EGFR):c.2573T>G (p.Leu858Arg)1.85%
BEGFRNM_005228.3c.2369C>T (p.Thr790Met)2.5%NM_005228.3 (EGFR):c.2369C>T (p.Thr790Met)3.04%100% (24/24)0
CEGFRNM_005228.3c.2235_2249del15 (p.Glu746_Ala750del)2.5%NM_005228.3 (EGFR):c.2235_2249del15 (p.Glu746_Ala750del)1.32%95.9% (23/24)1 FP (T790M)
DEGFRNM_005228.3c.2310_2311insGGT (p.Asp770_Asn771insGly)1.0%NM_005228.3 (EGFR): c.2310_2311insGGT(p.Asp770_Asn771insGly)1.60%87.5% (21/24)3 FNs
EEGFRNM_005228.3c.2369C>T (p.Thr790Met)5%NM_005228.3 (EGFR):c.2369C>T (p.Thr790Met)6.64%95.9% (23/24)1 FP (KRAS G12C)
FKRASNM_033360.3c.35G>A (p.Gly12Asp)2.5%NM_033360.3 (KRAS):c.35G>A (p.Gly12Asp)2.64%95.9% (23/24)1 FP (KRAS G12S)
GEGFRNM_005228.3c.2235_2249del15 (p.Glu746_Ala750del)2.5%NM_005228.3 (EGFR):c.2235_2249del15 (p.Glu746_Ala750del)1.07%100% (24/24)0
HEML4-ALKNRaEML4 exon20-ALK exon20 fusion1.0%EML4 exon20-ALK exon20 fusion0.72%95.9% (23/24)1 FN
IEML4-ALKNREML4 exon6-ALK exon20 fusion1.0%EML4 exon6-ALK exon20 fusion0.74%79.2% (19/24)1 FN; 4 FP (L858R; 19del; 20ins)
JNRNRWild-typeNRWild-typeNR100% (24/24)0
  • NR: not related.