Table 4 Variant annotation

Total

478

920

133

87

46

701

830

Annotated in COSMIC

151 (31.6%)

329 (35.8%)

34 (25.6%)

20 (23.0%)

14 (30.4%)

204 (29.1%)

310 (37.3%)

Annotated in dbSNP

423 (88.5%)

331 (36.0%)

82 (61.7%)

66 (75.9%)

16 (34.8%)

547 (78.0%)

289 (34.8%)

VAF (mean ± SD)

52% ± 15%

28% ± 21%

48% ± 16%

48% ± 17%

48% ± 14%

47% ± 20%

29% ± 20%

Minimal hotspot VAF (mean ± SD)

19% ± 19%

17% ± 19%

22% ± 18%

23% ± 17%

20% ± 18%

20% ± 20%

16% ± 17%

Maximal hotspot VAF (mean ± SD)

49% ± 29%

49% ± 28%

53% ± 27%

56% ± 27%

49% ± 27%

47% ± 30%

49% ± 28%

Maximal hotspot VAF—current (mean ± SD)

− 7.6% ± 32%

21% ± 31%

5.2% ± 28%

8.0% ± 28%

− 0.06% ± 26%

0.09% ± 34%

19% ± 31%

Maximal hotspot VAF—minimal hotspot VAF (mean ± SD)

26% ± 25%

31% ± 25%

31% ± 25%

33% ± 25%

28% ± 25%

27% ± 26%

32% ± 25%

EXAC frequency (mean)

1.28%

0.0017%

0.004%

0.005%

0.002%

0.88%

0.0013%

TOPMED frequency (mean)

1.23%

0.0012%

0.0026%

0.0029%

0.002%

0.84%

0.0013%

1000G frequency (mean)

1.16%

0.0015%

0.0038%

0.0037%

0.0039%

0.79%

0.0014%