|
Total sequence reads
|
93,205,604
|
|
Matched Reads (percentage of reads)
|
91,298,272 (97.95%)
|
|
Total number of variants detected
|
187,202
|
|
Variants which are not common dbSNP138 (MAF > 1%) (A)
|
37,206
|
|
Variants which are not present in 32 control of healthy individuals
|
9487
|
|
Variants which are nonsynonymous or located in splice junction (B)
|
622
|
|
% B / A
|
1.67%
|
|
Located within splice site
|
31
|
|
Deletion/Insertion
|
33
|
|
Stop codon gained / Stop codon lost
|
5
|
|
Missense
|
553
|
|
SNPs after inspection of MAF < 0.05% & amino acid conservation
|
168
|
|
Located within splice site
|
7
|
|
Deletion/Insertion
|
3
|
|
Stop codon gained / Stop codon lost
|
5
|
|
Missense
|
153
|
|
Variant in 129 genes known to deafness genes
|
4
|
|
Sanger confirmation / Segregation
|
2
|
|
Causative mutation
|
WFS1
|
