Table 3: Candidate variants in the proband after data filtering.

Frequency
Total number of SNVs in the proband 40,123
Number of previously described SNVs * [excluded] 36,165
SNVs identified as coding silent, intergenic, intronic, UTR and synonymous mutations, quality score < 20, PhyloP score < 3 [excluded] 3,702
Remaining candidate SNVs 256

*Project 1000 genomes [32], Exome Variant Server NHLBI GO Exome Sequencing Project [ESP], dbSNV database [33]. November 2015.