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. 2022 Dec;24(12):1217–1231. doi: 10.1016/j.jmoldx.2022.08.006

Table 1.

Characteristics of VAFs before and after ABRA2 for Deletions

Case Gene Size of deletion Estimated tumor cellularity, % % Mismaps % Mismaps fixed by ABRA2 VC VAF, % Manual calculation of
Absolute difference between
(1)
Before ABRA2 VAF, %
(2)
After ABRA2 VAF, %
(3)
True NGS VAF, %
Before and after ABRA2 VAF
(2) – (1), %
After ABRA2 VAF and
true NGS VAF
(3) – (2), %
Before ABRA2 VAF and
true NGS VAF
(3) – (1), %
1 CDKN2A 2 30 7.0 100 12.7 12.7 13.7 13.7 1.0 0 1.0
TSC2 3 10.7 100 41.4 41.4 46.4 46.4 5.0 0 5.0
2 EGFR 18 20 38.0 88.9 12.0 11.9 18.3 19.1 6.4 0.8 7.2
FOXO3 6 13.7 50 27.2 27.2 29.4 31.6 2.2 2.2 4.4
3 PIK3R1 6 30 21.7 97.7 29.6 29.6 37.6 37.7 8.0 0.1 8.1
4 CHD2 3 95 14.0 68.4 51.1 51.1 56.8 59.4 5.7 2.6 8.3
5 NF2 5 60 16.4 66.7 28.6 28.2 31.9 33.7 3.7 1.8 5.5
6 APC 8 60 23.2 63.2 21.9 21.9 26.0 28.5 4.1 2.5 6.6
ARID1A 3 13.0 83.3 14.4 16.7 18.8 19.2 2.1 0.4 2.5
7 APC 1 60 5.0 100 65.5 65.4 68.9 68.9 3.5 0 3.5
FANCD2 6 29.1 96.7 16.2 16.2 22.6 22.8 6.4 0.2 6.6
PIK3R1 12 31.0 100 20.7 20.7 30.0 30.0 9.3 0 9.3
8 PRKDC 1 60 3.3 90.9 38.2 38.2 39.4 39.5 1.2 0.1 1.3
9 HIST1H2AM 2 80 6.6 96.8 42.5 42.5 45.4 45.5 2.9 0.1 3.0
10 APC 2 50 12.1 95 51.1 50.9 57.5 57.9 6.6 0.4 7.0
11 ATRX 1 90 5.0 100 37.7 37.7 39.7 39.7 2.0 0 2.0
12 JARID2 18 70 39.8 100 27.0 27.0 44.8 44.8 17.8 0 17.8
13 APC 13 40 31.1 97.9 15.8 15.8 22.8 23.0 7.0 0.2 7.2
45 KMT2D 30 100 72.4 97.7 16.6 16.5 58.8 59.8 42.3 1.0 43.3

VC VAF % calculated by the VC before the use of ABRA2; (1), (2), and (3): manually calculated by visualizing reads in Integrative Genomics Viewer.

ABRA2, Assembly-Based ReAligner; NGS, next-generation sequencing; VAF, variant allele frequency; VC, variant caller.