Chromosome	Position	Reference Allele	Sample Allele	Gene Symbol	Transcript ID	Transcript Variant	Protein Variant	SIFT Function Prediction	PolyPhen-2 Function Prediction	Conservation phyloP p-value	dbSNP ID	1000 Genomes Frequency
2	99198209	G	T	INPP4A	NM_001134224.1; NM_001134225.1; NM_001566.2; NM_004027.2	c.2786+4603G>T; c.2855G>T; c.2801+4603G>T; c.2684+4603G>T	p.R952L	Damaging	Probably Damaging	1.233E-6		
2	217279607	G	T	SMARCAL1	NM_014140.3; NM_001127207.1	c.180G>T	p.E60D	Tolerated	Benign			
3	183542934	C	G	MAP6D1	NM_024871.2	c.401+1G>C				1.419E-3		
5	159841442	C	T	SLU7	NM_006425.4	c.208G>A	p.V70M	Tolerated	Possibly Damaging	4.624E-5		
6	10530054	C	T	GCNT2	NM_145649.4	c.910C>T	p.L304F	Damaging	Probably Damaging	9.863E-7		
9	113128845	A		SVEP1	NM_153366.3	c.10695-5delT						
19	5924849	C	T	RANBP3	NM_007322.2; NM_003624.2; NM_007320.2	c.781G>A; c.970G>A; c.985G>A	p.E329K; p.E261K; p.E324K	Damaging	Possibly Damaging	9.817E-6