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	21239415	G	C	APOB	NM_000384.2	c.3228C>G	p.I1076M	Tolerated	Benign			
3	123368043		G	MYLK	NM_053027.3; NM_053028.3; NM_053026.3; NM_053025.3	c.4289-3_4289-2insC; c.4082-3_4082-2insC				8.531E-3	200371896	4.03
3	123451932	G	A	MYLK	NM_053027.3; NM_053028.3; NM_053026.3; NM_053025.3	c.1327C>T; c.1309+602C>T	p.P443S	Tolerated	Possibly Damaging	1.698E-3	35156360	0.59
5	112128218	G	A	APC	NM_001127510.2; NM_000038.5; NM_001127511.2	c.676-8758G>A; c.721G>A	p.E241K	Tolerated	Benign	7.464E-5		
5	112178795	G	A	APC	NM_001127510.2; NM_000038.5; NM_001127511.2	c.7504G>A; c.7450G>A	p.G2484S; p.G2502S	Tolerated	Benign	1.422E-3	2229995	0.95
6	7565727	A	T	DSP	NM_001008844.1; NM_004415.2	c.913A>T	p.I305F	Damaging	Possibly Damaging	3.221E-4	17604693	1.74
9	135771790	C	A	TSC1	NM_001162427.1; NM_000368.4; NM_001162426.1	c.3174G>T; c.3327G>T; c.3324G>T	p.M1108I; p.M1109I; p.M1058I	Tolerated	Benign			
11	2869094	C	G	KCNQ1	NM_181798.1; NM_000218.2	c.1511C>G; c.1892C>G	p.P504R; p.P631R	Tolerated	Benign			
11	111958677	A	G	SDHD	NM_001276504.1; NM_001276506.1; NM_001276503.1; NM_003002.3	c.149A>G; c.53-914A>G	p.H50R	Tolerated	Possibly Damaging	3.767E-3	11214077	0.92
13	32912750	G	T	BRCA2	NM_000059.3	c.4258G>T	p.D1420Y	Damaging	Benign		28897727	0.23
14	23889445		G	MYH7	NM_000257.2	c.3337-3_3337-2insC				2.636E-5	45504498	
14	23900998	C	A	MYH7	NM_000257.2	c.611G>T	p.R204L	Tolerated	Benign			
17	41244429	C	T	BRCA1	NM_007300.3; NM_007297.3; NM_007294.3; NR_027676.1; NM_007299.3; NM_007298.3	c.788-1380G>A; c.3119G>A; c.2978G>A	p.S993N; p.S1040N	Tolerated	Benign		386597002	1.23
19	11233886	C	T	LDLR	NM_001195798.1; NM_001195803.1; NM_000527.4; NM_001195799.1; NM_001195800.1	c.1673C>T; c.2054C>T; c.1643C>T; c.2177C>T	p.T558I; p.T726I; p.T685I; p.T548I	Tolerated	Benign		45508991	0.1
19	39025366	C	G	RYR1	NM_000540.2; NM_001042723.1	c.11251C>G; c.11266C>G	p.Q3756E; p.Q3751E		Benign	1.159E-4	4802584	3.38