Table 2. Bioinformatics filtering algorithm.

			Pedigree ID
			IV:4	IV:7	IV:14	Mean
		Total aligned variants	284,085	257,691	278,351	273,376
		Number of indels before filtering	8803	6594	7036
			↓	↓	↓	↓
Decision	Analysis Tool	Filtration Steps
Keep	ANNOVAR	Nonsynonymous, nonsense, & splice site variants	11,287	11,883	11,803	11,658
			↓	↓	↓	↓
Keep	ANNOVAR	Located in conserved regions	5,198	4,984	4,935	5,039
			↓	↓	↓	↓
Exclude	ANNOVAR	Located in segmental duplications	4,531	4,072	4,073	4,225
			↓	↓	↓	↓
Keep	ANNOVAR	Novel variants	484	174	197	285
			↓	↓	↓	↓
Keep	dbNSFP	Predicted to be damaging	230	85	93	136

Shown are bioinformatics analysis tools used and individual and mean variant numbers at each step of filtering with resulting decrease in variant numbers at each decision step.