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
1	16386495	C	T	FAM131C	NM_182623.2	c.320G>A	p.R107Q	Tolerated	Probably Damaging	2.143E-3	71510977	
1	50884774	CGGCGG		DMRTA2	NM_032110.2	c.1187_1192delCCGCCG	p.A396_A397del				4027495	
1	145542255	A	G	ITGA10; NBPF10 (includes others)	NM_001039703.5; NM_001278267.1; NM_003637.3	c.11720+177581A>G; c.8614+176796A>G; c.3481A>G	p.R1161G	Tolerated	Benign		75496347	0.37
2	152236046	A		TNFAIP6	NM_007115.3	c.834delA	p.*278fs				71403164	
4	39924372		A	PDS5A	NM_001100400.1; NM_001100399.1	c.528-5_528-4insT					373105119	
8	82713832		A	SNX16	NM_022133.3; NM_152836.2; NM_152837.2	c.852-5_852-4insT; c.939-5_939-4insT					33964984	
8	108315599		A	ANGPT1	NM_001146.3; NM_001199859.1	c.809-5_809-4insT; c.806-5_806-4insT					398112845	
9	95618605		A	ZNF484	NM_031486.2; NM_001007101.2; NM_001261460.1; NM_001261458.1; NM_001261459.1	c.-93-6insT; c.22-6_22-5insT; c.16-6_16-5insT					56121719	
10	127503630	A	G	UROS	NM_000375.2	c.217T>C	p.C73R	Damaging	Probably Damaging			
11	5989415	C	A	OR56A5	NM_001146033.1	c.310G>T	p.V104L	Tolerated	Benign		7114672	
11	71800166	G	A	LRTOMT	NM_001205138.3; NM_001145310.3; NM_001145309.3; NM_001145308.4; NM_001145307.4; NM_145309.5; NM_001271471.2	c.28+740G>A; c.37G>A; c.-367G>A; c.-321-4376G>A	p.E13K	Tolerated	Benign	1.932E-4	146942815	0.19
11	130780270	CAAAA		SNX19	NM_014758.2	c.1814-9_1814-5delTTTTG					202209451	
12	14720554	G	T	PLBD1	NM_024829.5	c.77C>A	p.P26Q	Tolerated	Possibly Damaging		1141509	
13	73409508		A	PIBF1	NM_006346.2	c.1223+2_1223+3insA				9.120E-4	200683940	
14	23744801	CAT		HOMEZ	NM_020834.2	c.1634_1636delATG	p.D545del			6.887E-3	148005528	
15	31521506	GG		LOC283710	NM_001243538.1	c.75_76delCC	p.R26fs*10				3835087	
15	34820194	C	T	GOLGA8A/GOLGA8B	NR_027410.1; NM_001023567.4	c.1538G>A	p.R513Q	Tolerated	Benign		200975425	
15	100252713	CAG		MEF2A	NM_001130928.1; NM_001130927.1; NM_001130926.1; NM_001171894.1; NM_005587.2	c.1054_1056delCAG; c.1078_1080delCAG; c.1264_1266delCAG; c.1258_1260delCAG	p.Q422del; p.Q360del; p.Q420del; p.Q352del			1.052E-6		
17	17039562	CAG		MPRIP	NM_015134.3; NM_201274.3	c.564_566delCAG	p.S189del				3833098	
19	43865320	CT		CD177	NM_020406.3	c.786_787delCT	p.K263fs*38					
19	43865324		AG	CD177	NM_020406.3	c.789_790dupAG	p.G264fs*47					
22	18077387	A		ATP6V1E1	NM_001696.3; NM_001039366.1; NM_001039367.1	c.465-5delT; c.531-5delT; c.441-5delT					398081660