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Table 2 Number of variants as outputs from different filtering stages

From: Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing

Variant calling

125,686 variants (in 25,664 genes)

Stage 1

22,626 variants (in 14,754 genes)

Stage 2

Class Unknown

Class 3

Class 3 + 

Class 4&5

Class1&2

Class 2 + 

20,541 variants

(14,043 genes)

752 variants

(849a genes)

41 variants

(37 genes)

68 variants

(91a genes)

897 variants

(1013a genes)

340 variants

(378a genes)

Stage 3

3.0

14,467 variants

(11,222 genes)

309 variants

(382a genes)

16 variant

(5 genes)

No Stage 3 filtering in these classes (4&5, 1&2, 2 +)

3.1

81 variants

(78 genes)

24 variants

(24 genes)

22 variants

(21 genes)

3.2

3.2.1

90 variants

(85 genes)

0

1 variant

(1 gene)

3.2.2

58 variants

(43 genes)

2 variants

(2 genes)

0

  1. Filtering stages: Stage 1: Frequency (gnomAD) based filtering; Stage 2: Clinical significance (ClinVar) based filtering; Stage 3: Chosen in silico tools-based filtering, 3.0: Variants without any scores in chosen in silico tools, 3.1: Variants passing tool rank-scores cut-offs, 3.2.1: Variants passing splicing related filters, 3.2.2: Variants passing frameshift related filters
  2. aNumber of genes is higher than number of associated variants, due to multiple naming of some genes