Table 1.

SNVs and INDELs in Kindred 1 by filtering steps of whole-exome sequencing data.

Filter Criteria for Variants	Number of Variants (SNV and INDELs) after Filtering
Total number of variants	90,249
Present in all affected members of the kindred heterozygous; and coverage > 20	244
In exonic regions	118
Nonsynonymous (missense) or frameshift deletion/insertion	87
Deleterious SIFT score less than 0.05 or not available	82
SNVs/ INDELs ≤ 2% or not available in ExAC (European Non-Finish) and 1000 Genomes databases	58
Described as TSG or proto-oncogene	5
Confirmed by Sanger sequencing	2
Present in all affected members in at least another kindred	1

SNVs, Single nucleotide variants; INDELs, insertions and deletions; TSG, tumor suppressor gene.