patient ID	sample ID	chrom	start_hg19	refBase	varBase	end_hg19	qual	depth	refDepth	varDepth	mapQ	VAF	germlineDepth	germlineVarDepth	germlineVarBaseQ	SNP	alleleNum	class	dist2gene	transcript	gene	transStart	transEnd	strand	refCodon	varCodon	refAa	varAa	aaPos	peptideLen	exonPos	exonLen	cosmicNum	cosmicAnno	mutType
SJMPAL046470	SJMPAL046470_D2	1	115252204	C	T	115252204	1469.77	139	83	56	60	0.40	78	2	0|71	NA	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GCC	ACC	Ala	Thr	p.A146T	189	e4	7	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL046470	SJMPAL046470_D3	1	115252204	C	T	115252204	751.77	80	52	28	60	0.35	78	2	0|71	NA	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GCC	ACC	Ala	Thr	p.A146T	189	e4	7	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL044956	SJMPAL044956_D1	1	115256529	T	C	115256529	594.77	43	20	23	60	0.53	39	0	0	rs11554290	404;4	missense	0	NM_002524	NRAS	115247085	115259515	-	CAA	CGA	Gln	Arg	p.Q61R	189	e3	7	3474	Confirm(705)Report(2769)Unknown(0)	SNV
SJMPAL040033	SJMPAL040033_D2	1	115258744	C	T	115258744	2148.77	182	96	84	60	0.46	335	3	0|36|72	rs121434596	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G13D	189	e2	7	538	Confirm(132)Report(406)Unknown(0)	SNV
SJMPAL040033	SJMPAL040033_D3	1	115258744	C	T	115258744	2189.77	221	134	85	60	0.38	335	3	0|36|72	rs121434596	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G13D	189	e2	7	538	Confirm(132)Report(406)Unknown(0)	SNV
SJMPAL040033	SJMPAL040033_D4	1	115258744	C	T	115258744	2329.77	205	116	89	60	0.43	335	3	0|36|72	rs121434596	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G13D	189	e2	7	538	Confirm(132)Report(406)Unknown(0)	SNV
SJMPAL016341	SJMPAL016341_D2	1	115258744	C	T	115258744	3803.77	346	190	155	60	0.45	287	35	0|0|0|0|0|0|0|24|26|28|29|29|31|32|34|34|35|35|36|37|37|38|39|39|40|41|41|41|61|72|73|75|76|77|79	rs121434596	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G13D	189	e2	7	538	Confirm(132)Report(406)Unknown(0)	SNV
SJMPAL016341	SJMPAL016341_D3	1	115258744	C	T	115258744	3007.77	348	216	132	60	0.38	287	35	0|0|0|0|0|0|0|24|26|28|29|29|31|32|34|34|35|35|36|37|37|38|39|39|40|41|41|41|61|72|73|75|76|77|79	rs121434596	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G13D	189	e2	7	538	Confirm(132)Report(406)Unknown(0)	SNV
SJMPAL016341	SJMPAL016341_D4	1	115258744	C	T	115258744	1237.77	321	253	68	60	0.21	287	35	0|0|0|0|0|0|0|24|26|28|29|29|31|32|34|34|35|35|36|37|37|38|39|39|40|41|41|41|61|72|73|75|76|77|79	rs121434596	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G13D	189	e2	7	538	Confirm(132)Report(406)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D2	1	115258745	C	G	115258745	957.77	295	238	56	60	0.19	413	1	2	rs121434595	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	CGT	Gly	Arg	p.G13R	189	e2	7	387	Confirm(105)Report(282)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D3	1	115258745	C	G	115258745	861.77	225	178	46	60	0.20	413	1	2	rs121434595	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	CGT	Gly	Arg	p.G13R	189	e2	7	387	Confirm(105)Report(282)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D4	1	115258745	C	G	115258745	NA	173	160	13	NA	0.08	413	1	2	rs121434595	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	CGT	Gly	Arg	p.G13R	189	e2	7	387	Confirm(105)Report(282)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D2	1	115258747	C	T	115258747	765.77	339	286	53	60	0.16	234	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D4	1	115258747	C	T	115258747	140.77	164	143	20	60	0.12	234	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D2	1	115258747	C	T	115258747	1248.77	451	371	77	60	0.17	261	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D3	1	115258747	C	T	115258747	793.77	245	194	50	60	0.20	261	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D4	1	115258747	C	T	115258747	1718.77	296	213	83	60	0.28	261	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D5	1	115258747	C	T	115258747	1035.77	272	219	53	60	0.19	261	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL040038	SJMPAL040038_D2	1	115258747	C	T	115258747	2497.77	408	294	113	60	0.28	359	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	1	115258747	C	T	115258747	2307.77	182	92	90	60	0.49	298	2	35|39	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	1	115258747	C	T	115258747	2566.77	195	105	90	60	0.46	298	2	35|39	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL044950	SJMPAL044950_D1	1	115258747	C	T	115258747	3424.77	637	475	162	60	0.25	454	3	0|41|78	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D3	1	115258747	C	T	115258747	NA	257	243	14	NA	0.05	234	0	0	rs121913237	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	GAT	Gly	Asp	p.G12D	189	e2	7	1647	Confirm(342)Report(1305)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	1	115258748	C	G	115258748	3135.77	277	137	140	60	0.51	422	0	0	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	CGT	Gly	Arg	p.G12R	189	e2	7	62	Confirm(18)Report(44)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D2	1	115258748	C	T	115258748	1332.77	335	263	72	60	0.21	237	1	37	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	AGT	Gly	Ser	p.G12S	189	e2	7	328	Confirm(58)Report(270)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D3	1	115258748	C	T	115258748	1704.77	260	180	80	60	0.31	237	1	37	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	AGT	Gly	Ser	p.G12S	189	e2	7	328	Confirm(58)Report(270)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D4	1	115258748	C	T	115258748	1248.77	173	126	47	60	0.27	237	1	37	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	AGT	Gly	Ser	p.G12S	189	e2	7	328	Confirm(58)Report(270)Unknown(0)	SNV
SJMPAL040038	SJMPAL040038_D2	1	115258748	C	A	115258748	1033.77	414	347	67	60	0.16	364	1	2	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	TGT	Gly	Cys	p.G12C	189	e2	7	268	Confirm(56)Report(212)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D2	1	115258748	C	T	115258748	965.77	244	195	48	60	0.20	391	0	0	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	AGT	Gly	Ser	p.G12S	189	e2	7	328	Confirm(58)Report(270)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	1	115258748	C	T	115258748	2338.77	227	135	91	60	0.40	391	0	0	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	AGT	Gly	Ser	p.G12S	189	e2	7	328	Confirm(58)Report(270)Unknown(0)	SNV
SJMPAL046468	SJMPAL046468_D2	1	115258748	C	T	115258748	NA	225	209	16	NA	0.07	258	0	0	rs121913250	0	missense	0	NM_002524	NRAS	115247085	115259515	-	GGT	AGT	Gly	Ser	p.G12S	189	e2	7	328	Confirm(58)Report(270)Unknown(0)	SNV
SJMPAL043773	SJMPAL043773_R1	11	32413565	C	T	32413565	2135.77	180	87	93	60	0.52	43	0	0	rs121907903	0	missense	0	NM_024426	WT1	32409322	32457081	-	CGG	CAG	Arg	Gln	p.R462Q	517	e9	10	20	Confirm(6)Report(14)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D2	11	32414207	C	G	32414207	1647.77	180	110	70	60	0.39	150	0	0	NA	0	intron-NS	0	NM_024426	WT1	32409322	32457081	-	0	0	0	0	0	517	e8+5	10	0	0	SNV
SJMPAL012418	SJMPAL012418_D3	11	32414207	C	G	32414207	3012.77	199	84	113	60	0.57	150	0	0	NA	0	intron-NS	0	NM_024426	WT1	32409322	32457081	-	0	0	0	0	0	517	e8+5	10	0	0	SNV
SJMPAL012418	SJMPAL012418_D4	11	32414207	C	G	32414207	1794.77	111	51	60	60	0.54	150	0	0	NA	0	intron-NS	0	NM_024426	WT1	32409322	32457081	-	0	0	0	0	0	517	e8+5	10	0	0	SNV
SJMPAL011912	SJMPAL011912_D2	11	32414250	C	CTTTA	32414250	11260.73	356	167	166	60	0.47	423	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R434fs	517	e8	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL040037	SJMPAL040037_D2	11	32417826	TG	TTGATCT	32417827	4077.73	148	67	67	60	0.45	144	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CAG	CAG	Gln	Gln	p.Q409fs	517	e7	10	0	0	INDEL
SJMPAL040037	SJMPAL040037_D3	11	32417826	TG	TTGATCT	32417827	1674.73	91	56	29	60	0.32	144	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CAG	CAG	Gln	Gln	p.Q409fs	517	e7	10	0	0	INDEL
SJMPAL040037	SJMPAL040037_D5	11	32417826	TG	TTGATCT	32417827	6762.73	276	139	108	60	0.39	144	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CAG	CAG	Gln	Gln	p.Q409fs	517	e7	10	0	0	INDEL
SJMPAL040037	SJMPAL040037_D4	11	32417826	TG	TTGATCT	32417826	1742.73	182	137	33	60	0.18	144	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CAG	CAG	Gln	Gln	p.Q409fs	517	e7	10	0	0	INDEL
SJMPAL011914	SJMPAL011914_D1	11	32417911	A	AGGACCAGT	32417911	9842.73	197	92	101	60.22	0.51	184	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	TCG	TCG	Ser	Ser	p.S381fs	517	e7	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL016341	SJMPAL016341_D2	11	32417913	CGTACAAG	CCCCTAGGTGTAGTTT	32417920	7924.73	148	68	77	60	0.52	192	9	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	10	Confirm(8)Report(2)Unknown(0)	INDEL
SJMPAL016341	SJMPAL016341_D3	11	32417913	CGTACAAG	CCCCTAGGTGTAGTTT	32417920	9100.73	187	98	89	60	0.48	192	9	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	10	Confirm(8)Report(2)Unknown(0)	INDEL
SJMPAL016341	SJMPAL016341_D4	11	32417913	CGTACAAG	CCCCTAGGTGTAGTTT	32417920	4722.73	108	61	47	60.1	0.44	192	9	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	10	Confirm(8)Report(2)Unknown(0)	INDEL
SJMPAL040037	SJMPAL040037_D2	11	32417913	C	CCGCCCCA	32417913	4498.73	132	81	48	60	0.36	119	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	10	Confirm(8)Report(2)Unknown(0)	INDEL
SJMPAL040037	SJMPAL040037_D3	11	32417913	C	CCGCCCCA	32417913	3274.73	114	77	35	60	0.31	119	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	10	Confirm(8)Report(2)Unknown(0)	INDEL
SJMPAL040037	SJMPAL040037_D5	11	32417913	C	CCGCCCCA	32417913	8432.73	279	179	93	60	0.33	119	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	10	Confirm(8)Report(2)Unknown(0)	INDEL
SJMPAL040037	SJMPAL040037_D4	11	32417913	C	CCGCCCCA	32417913	1770.73	185	160	23	59.91	0.12	119	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	13	Confirm(12)Report(1)Unknown(0)	INDEL
SJMPAL017976	SJMPAL017976_D2	11	32417914	G	GGCCCC	32417914	7069.73	242	141	99	60	0.41	175	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	4	Confirm(2)Report(2)Unknown(0)	INDEL
SJMPAL017976	SJMPAL017976_D3	11	32417914	G	GGCCCC	32417914	4476.73	142	71	58	60	0.41	175	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	4	Confirm(2)Report(2)Unknown(0)	INDEL
SJMPAL017976	SJMPAL017976_D4	11	32417914	G	GGCCCC	32417914	2903.73	201	152	44	60.05	0.22	175	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGG	CGG	Arg	Arg	p.R380fs	517	e7	10	4	Confirm(2)Report(2)Unknown(0)	INDEL
SJMPAL011911	SJMPAL011911_D1	11	32417915	TACAAG	TATCCTAAAAAGT	32417920	5395.73	166	87	76	60	0.46	243	0	NA	NA	0	in-frame_ins	0	NM_024426	WT1	32409322	32457081	-	GTA	GTA	Val	Val	p.V379ins	517	e7	10	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL011911	SJMPAL011911_D2	11	32417915	TACAAG	TATCCTAAAAAGT	32417920	5020.73	185	112	72	60	0.39	243	0	NA	NA	0	in-frame_ins	0	NM_024426	WT1	32409322	32457081	-	GTA	GTA	Val	Val	p.V379ins	517	e7	10	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL016341	SJMPAL016341_D2	11	32417918	A	AAGAGGGTTACAGAT	32417918	7255.73	94	31	49	60	0.52	189	17	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CTT	CTT	Leu	Leu	p.L378fs	517	e7	10	6	Confirm(6)Report(0)Unknown(0)	INDEL
SJMPAL016341	SJMPAL016341_D3	11	32417918	A	AAGAGGGTTACAGAT	32417918	12413.73	129	38	81	60	0.63	189	17	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CTT	CTT	Leu	Leu	p.L378fs	517	e7	10	6	Confirm(6)Report(0)Unknown(0)	INDEL
SJMPAL016341	SJMPAL016341_D4	11	32417918	A	AAGAGGGTTACAGAT	32417918	7753.73	81	23	52	60	0.64	189	17	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CTT	CTT	Leu	Leu	p.L378fs	517	e7	10	6	Confirm(6)Report(0)Unknown(0)	INDEL
SJMPAL011915	SJMPAL011915_D1	11	32417924	C	CCG	32417924	3149.73	151	73	67	60	0.44	164	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CCG	CCG	Pro	Pro	p.P376fs	517	e7	10	2	Confirm(2)Report(0)Unknown(0)	INDEL
SJMPAL011914	SJMPAL011914_D1	11	32417942	A	ACC	32417942	3465.73	188	104	80	60.4	0.43	186	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R370fs	517	e7	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL011915	SJMPAL011915_D1	11	32417942	A	AG	32417942	2148.73	148	85	58	60	0.39	177	2	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R370fs	517	e7	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL040036	SJMPAL040036_D3	11	32417942	ACG	ACCC	32417944	3309.73	89	3	86	60	0.97	103	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R370fs	517	e7	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL040036	SJMPAL040036_D4	11	32417942	ACG	ACCC	32417944	3803.73	101	1	99	60	0.98	103	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R370fs	517	e7	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL040036	SJMPAL040036_D5	11	32417942	ACG	ACCC	32417944	3902.73	119	9	107	60	0.90	103	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R370fs	517	e7	10	3	Confirm(3)Report(0)Unknown(0)	INDEL
SJMPAL040036	SJMPAL040036_D2	11	32417942	ACG	ACCC	32417942	4651.73	154	24	128	60	0.83	103	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGT	CGT	Arg	Arg	p.R370fs	517	e7	10	10	Confirm(3)Report(7)Unknown(0)	INDEL
SJMPAL017976	SJMPAL017976_D2	11	32417945	TCG	TCCC	32417947	2664.73	224	128	88	60	0.39	158	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	3	Confirm(1)Report(1)Unknown(1)	INDEL
SJMPAL017976	SJMPAL017976_D3	11	32417945	TCG	TCCC	32417947	2130.73	135	62	66	60	0.49	158	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	3	Confirm(1)Report(1)Unknown(1)	INDEL
SJMPAL017976	SJMPAL017976_D4	11	32417945	TCG	TCCC	32417947	1473.73	185	126	53	60.06	0.29	158	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	3	Confirm(1)Report(1)Unknown(1)	INDEL
SJMPAL011912	SJMPAL011912_D2	11	32417946	CG	CTC	32417947	1424.73	150	98	49	60	0.33	239	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	3	Confirm(0)Report(0)Unknown(3)	INDEL
SJMPAL012418	SJMPAL012418_D2	11	32417947	G	GGCGT	32417947	4239.73	171	105	65	60.06	0.38	118	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL012418	SJMPAL012418_D3	11	32417947	G	GGCGT	32417947	3349.73	157	103	52	60	0.33	118	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL012418	SJMPAL012418_D4	11	32417947	G	GGCGT	32417947	884.73	93	75	16	60	0.17	118	1	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CGA	CGA	Arg	Arg	p.R369fs	517	e7	10	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL041120	SJMPAL041120_D5	11	32439187	G	A	32439187	759.77	174	135	38	60	0.22	216	0	0	rs547775568	5007;1	nonsense	0	NM_024426	WT1	32409322	32457081	-	CAA	TAA	Gln	*	p.Q296*	517	e4	10	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	11	32439188	G	C	32439188	841.77	176	135	39	60	0.22	217	0	0	rs190440703	0	nonsense	0	NM_024426	WT1	32409322	32457081	-	TAC	TAG	Tyr	*	p.Y295*	517	e4	10	0	0	SNV
SJMLL003311	SJMLL003311_D3	11	32449512	G	GCGTCCTCA	32449512	899.73	37	23	11	60	0.30	20	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CCC	CCC	Pro	Pro	p.P288fs	517	e3	10	0	0	INDEL
SJMLL003311	SJMLL003311_D4	11	32449512	G	GCGTCCTCA	32449512	1066.73	20	9	11	60	0.55	20	0	NA	NA	0	frame_shift_ins	0	NM_024426	WT1	32409322	32457081	-	CCC	CCC	Pro	Pro	p.P288fs	517	e3	10	0	0	INDEL
SJMLL003311	SJMLL003311_D3	11	32456243	T	TTGG	32456243	962.73	37	20	17	60	0.46	35	0	NA	NA	0	intron-NS	0	NM_024426	WT1	32409322	32457081	-	0	0	0	0	0	517	e1+3	10	0	0	INDEL
SJMLL003311	SJMLL003311_D4	11	32456243	T	TTGG	32456243	458.73	31	22	9	60	0.29	35	0	NA	NA	0	intron-NS	0	NM_024426	WT1	32409322	32457081	-	0	0	0	0	0	517	e1+3	10	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	12	112884192	C	T	112884192	1820.77	155	96	59	59.86	0.38	65	2	41|41	NA	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	CTT	TTT	Leu	Phe	p.L43F	593	e2	16	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	12	112888165	G	T	112888165	2101.77	134	61	73	59.8	0.54	127	0	0	rs397507510	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAT	TAT	Asp	Tyr	p.D61Y	593	e3	16	72	Confirm(20)Report(52)Unknown(0)	SNV
SJMPAL046471	SJMPAL046471_D2	12	112888198	G	A	112888198	3600.77	232	115	117	56.24	0.50	201	43	0|0|30|32|34|34|35|35|35|35|36|37|37|37|37|38|38|39|39|39|39|39|39|40|40|40|40|40|40|41|41|41|41|41|41|41|41|41|41|41|41|70|77	rs121918453	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GCC	ACC	Ala	Thr	p.A72T	593	e3	16	70	Confirm(34)Report(36)Unknown(0)	SNV
SJMPAL046471	SJMPAL046471_D4	12	112888198	G	A	112888198	2169.77	169	98	71	57.11	0.42	201	43	0|0|30|32|34|34|35|35|35|35|36|37|37|37|37|38|38|39|39|39|39|39|39|40|40|40|40|40|40|41|41|41|41|41|41|41|41|41|41|41|41|70|77	rs121918453	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GCC	ACC	Ala	Thr	p.A72T	593	e3	16	70	Confirm(34)Report(36)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D2	12	112888199	C	T	112888199	2667.77	197	104	92	59.98	0.47	102	1	34	rs121918454	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GCC	GTC	Ala	Val	p.A72V	593	e3	16	96	Confirm(26)Report(70)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D3	12	112888199	C	T	112888199	3176.77	210	109	101	59.97	0.48	102	1	34	rs121918454	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GCC	GTC	Ala	Val	p.A72V	593	e3	16	96	Confirm(26)Report(70)Unknown(0)	SNV
SJMPAL046466	SJMPAL046466_D2	12	112888199	C	A	112888199	2442.77	168	87	80	59.91	0.48	150	11	26|36|36|38|39|40|40|40|41|41|41	rs121918454	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GCC	GAC	Ala	Asp	p.A72D	593	e3	16	18	Confirm(12)Report(6)Unknown(0)	SNV
SJMPAL046466	SJMPAL046466_D4	12	112888199	C	A	112888199	NA	167	141	26	NA	0.16	150	11	26|36|36|38|39|40|40|40|41|41|41	rs121918454	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GCC	GAC	Ala	Asp	p.A72D	593	e3	16	18	Confirm(12)Report(6)Unknown(0)	SNV
SJMPAL016342	SJMPAL016342_D3	12	112888210	G	C	112888210	602.77	176	139	37	59.99	0.21	105	0	0	rs121918464	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAG	CAG	Glu	Gln	p.E76Q	593	e3	16	13	Confirm(6)Report(7)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D2	12	112888210	G	A	112888210	1074.77	133	87	46	56.33	0.35	70	0	0	rs121918464	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAG	AAG	Glu	Lys	p.E76K	593	e3	16	190	Confirm(42)Report(148)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D3	12	112888210	G	A	112888210	61.77	190	174	16	56.9	0.08	70	0	0	rs121918464	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAG	AAG	Glu	Lys	p.E76K	593	e3	16	190	Confirm(42)Report(148)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D4	12	112888210	G	A	112888210	1796.77	158	97	61	56.35	0.39	70	0	0	rs121918464	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAG	AAG	Glu	Lys	p.E76K	593	e3	16	190	Confirm(42)Report(148)Unknown(0)	SNV
SJMPAL016342	SJMPAL016342_D4	12	112888210	G	C	112888210	NA	151	145	6	NA	0.04	105	0	0	rs121918464	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAG	CAG	Glu	Gln	p.E76Q	593	e3	16	13	Confirm(6)Report(7)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D5	12	112888210	G	A	112888210	2069.77	178	108	70	56.67	0.39	70	0	0	rs121918464	0	missense	0	NM_002834	PTPN11	112856536	112947717	+	GAG	AAG	Glu	Lys	p.E76K	593	e3	16	111	Confirm(22)Report(89)Unknown(0)	SNV
SJMPAL042789	SJMPAL042789_D4	13	28592629	T	C	28592629	2695.77	191	96	95	60	0.50	87	0	0	NA	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	GGT	Asp	Gly	p.D839G	993	e20	24	5	Confirm(4)Report(1)Unknown(0)	SNV
SJMPAL017975	SJMPAL017975_D2	13	28592641	T	A	28592641	1090.77	193	136	56	60	0.29	159	0	0	rs121909646	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	GTT	Asp	Val	p.D835V	993	e20	24	106	Confirm(36)Report(70)Unknown(0)	SNV
SJMPAL017975	SJMPAL017975_D3	13	28592641	T	A	28592641	651.77	122	90	31	60	0.25	159	0	0	rs121909646	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	GTT	Asp	Val	p.D835V	993	e20	24	106	Confirm(36)Report(70)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D3	13	28592641	TCT	AAC	28592643	156.77	68	57	10	60	0.15	145	2	0|30	rs121909646	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TTT	Asp	Phe	p.D835F	993	e20	24	106	Confirm(36)Report(70)Unknown(0)	MNP
SJMPAL017976	SJMPAL017976_D2	13	28592641	TCT	AAC	28592643	NA	133	121	12	NA	0.09	145	2	0|30	rs121909646	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TTT	Asp	Phe	p.D835F	993	e20	24	106	Confirm(36)Report(70)Unknown(0)	MNV
SJMPAL017976	SJMPAL017976_D4	13	28592641	TCT	AAC	28592643	NA	127	123	4	NA	0.03	145	2	0|30	rs121909646	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TTT	Asp	Phe	p.D835F	993	e20	24	106	Confirm(36)Report(70)Unknown(0)	MNV
SJMPAL040030	SJMPAL040030_D2	13	28592642	C	A	28592642	149.77	148	131	17	60	0.11	112	0	0	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D5	13	28592642	C	A	28592642	69.77	91	80	11	60	0.12	112	0	0	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL042794	SJMPAL042794_D3	13	28592642	C	A	28592642	1480.77	91	38	53	60	0.58	102	12	0|36|41|41|41|41|41|41|41|41|41|82	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL042794	SJMPAL042794_D4	13	28592642	C	A	28592642	1504.77	91	43	48	60	0.53	102	12	0|36|41|41|41|41|41|41|41|41|41|82	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D2	13	28592642	C	G	28592642	90.77	94	83	11	60	0.12	85	4	0|36|41|45	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	CAT	Asp	His	p.D835H	993	e20	24	66	Confirm(14)Report(52)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D3	13	28592642	C	G	28592642	209.77	106	91	15	60	0.14	85	4	0|36|41|45	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	CAT	Asp	His	p.D835H	993	e20	24	66	Confirm(14)Report(52)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D4	13	28592642	C	G	28592642	201.77	103	90	13	60	0.13	85	4	0|36|41|45	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	CAT	Asp	His	p.D835H	993	e20	24	66	Confirm(14)Report(52)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D3	13	28592642	C	A	28592642	NA	95	92	3	NA	0.03	112	0	0	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL040030	SJMPAL040030_D4	13	28592642	C	A	28592642	NA	111	107	4	NA	0.04	112	0	0	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL042794	SJMPAL042794_D2	13	28592642	C	A	28592642	NA	105	56	49	NA	0.47	102	12	0|36|41|41|41|41|41|41|41|41|41|82	rs121913488	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GAT	TAT	Asp	Tyr	p.D835Y	993	e20	24	440	Confirm(134)Report(306)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D2	13	28602329	G	A	28602329	462.77	61	40	20	60	0.33	58	0	0	rs372303125	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GCG	GTG	Ala	Val	p.A680V	993	e16	24	12	Confirm(6)Report(6)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D3	13	28602329	G	A	28602329	248.77	55	44	11	60	0.20	58	0	0	rs372303125	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GCG	GTG	Ala	Val	p.A680V	993	e16	24	12	Confirm(6)Report(6)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D4	13	28602329	G	A	28602329	NA	31	27	4	NA	0.13	58	0	0	rs372303125	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GCG	GTG	Ala	Val	p.A680V	993	e16	24	12	Confirm(6)Report(6)Unknown(0)	SNV
SJMLL003311	SJMLL003311_D3	13	28602340	G	C	28602340	542.77	57	36	21	60	0.37	96	0	0	NA	0	missense	0	NM_004119	FLT3	28577411	28674729	-	AAC	AAG	Asn	Lys	p.N676K	993	e16	24	0	0	SNV
SJMLL003311	SJMLL003311_D4	13	28602340	G	C	28602340	245.77	68	55	13	60	0.19	96	0	0	NA	0	missense	0	NM_004119	FLT3	28577411	28674729	-	AAC	AAG	Asn	Lys	p.N676K	993	e16	24	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	13	28608268	T	TTCTCTGAAATCAACGTAGAAG	28608268	996.73	69	45	6	60	0.09	114	0	NA	NA	0	in-frame_ins	0	NM_004119	FLT3	28577411	28674729	-	GAA	GAA	Glu	Glu	p.E596ins	993	e14	24	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL040027	SJMPAL040027_D4	13	28608268	T	TTCTCTGAAATCAACGTAGAAG	28608268	2282.73	74	39	11	59.99	0.15	114	0	NA	NA	0	in-frame_ins	0	NM_004119	FLT3	28577411	28674729	-	GAA	GAA	Glu	Glu	p.E596ins	993	e14	24	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL040027	SJMPAL040027_D2	13	28608268	T	TTCTCTGAAATCAACGTAGAAG	28608268	NA	57	54	3	NA	0.05	114	0	NA	NA	0	in-frame_ins	0	NM_004119	FLT3	28577411	28674729	-	GAA	GAA	Glu	Glu	p.E596ins	993	e14	24	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL040034	SJMPAL040034_D2	13	28608273	TGAAATCAACGTAGAAGTA	TACCCAAGTG	28608280	1235.73	91	69	15	60	0.16	16	0	NA	NA	0	frame_shift_del	0	NM_004119	FLT3	28577411	28674729	-	GTT	GTT	Val	Val	p.V592fs	993	e14	24	0	0	INDEL
SJMPAL040034	SJMPAL040034_D3	13	28608273	TGAAATCAACGTAGAAGTA	TACCCAAGTG	28608280	1254.73	85	62	15	60	0.18	16	0	NA	NA	0	frame_shift_del	0	NM_004119	FLT3	28577411	28674729	-	GTT	GTT	Val	Val	p.V592fs	993	e14	24	0	0	INDEL
SJMPAL040032	SJMPAL040032_D2	13	28609758	C	G	28609758	NA	69	58	11	NA	0.16	42	2	0|82	NA	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GTG	CTG	Val	Leu	p.V491L	993	e12	24	6	Confirm(6)Report(0)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D4	13	28609758	C	G	28609758	NA	50	42	8	NA	0.16	42	2	0|82	NA	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GTG	CTG	Val	Leu	p.V491L	993	e12	24	6	Confirm(6)Report(0)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D3	13	28609758	C	G	28609758	167.77	51	41	10	60	0.20	42	2	0|82	NA	0	missense	0	NM_004119	FLT3	28577411	28674729	-	GTG	CTG	Val	Leu	p.V491L	993	e12	24	6	Confirm(6)Report(0)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D2	12	25380285	G	A	25380285	199.77	91	79	12	60	0.13	160	0	0	rs104894364	0	missense	0	NM_033360	KRAS	25357723	25403865	-	ACA	ATA	Thr	Ile	p.T58I	189	e3	6	13	Confirm(3)Report(10)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D3	12	25380285	G	A	25380285	93.77	98	87	11	60	0.11	160	0	0	rs104894364	0	missense	0	NM_033360	KRAS	25357723	25403865	-	ACA	ATA	Thr	Ile	p.T58I	189	e3	6	13	Confirm(3)Report(10)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D4	12	25380285	G	A	25380285	54.77	68	60	8	60	0.12	160	0	0	rs104894364	0	missense	0	NM_033360	KRAS	25357723	25403865	-	ACA	ATA	Thr	Ile	p.T58I	189	e3	6	13	Confirm(3)Report(10)Unknown(0)	SNV
SJMPAL043773	SJMPAL043773_R1	12	25398266	G	T	25398266	1505.77	246	177	69	60	0.28	42	0	0	NA	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GCC	GAC	Ala	Asp	p.A18D	189	e2	6	18	Confirm(8)Report(10)Unknown(0)	SNV
SJMPAL040024	SJMPAL040024_D2	12	25398281	C	T	25398281	69.77	200	181	19	59.99	0.10	238	0	0	rs112445441	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGC	GAC	Gly	Asp	p.G13D	189	e2	6	10360	Confirm(1952)Report(8408)Unknown(0)	SNV
SJMPAL042943	SJMPAL042943_D2	12	25398281	C	T	25398281	1157.77	125	78	47	60	0.38	99	4	38|40|41|41	rs112445441	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGC	GAC	Gly	Asp	p.G13D	189	e2	6	10360	Confirm(1952)Report(8408)Unknown(0)	SNV
SJMPAL040024	SJMPAL040024_D3	12	25398281	C	T	25398281	NA	350	335	15	NA	0.04	238	0	0	rs112445441	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGC	GAC	Gly	Asp	p.G13D	189	e2	6	10360	Confirm(1952)Report(8408)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D4	12	25398285	C	G	25398285	13.95	107	97	9	60	0.08	133	0	0	rs121913530	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGT	CGT	Gly	Arg	p.G12R	189	e2	6	2730	Confirm(1020)Report(1710)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D2	12	25398285	C	G	25398285	NA	140	136	4	NA	0.03	133	0	0	rs121913530	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGT	CGT	Gly	Arg	p.G12R	189	e2	6	2730	Confirm(1020)Report(1710)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D3	12	25398285	C	G	25398285	NA	109	106	3	NA	0.03	133	0	0	rs121913530	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGT	CGT	Gly	Arg	p.G12R	189	e2	6	2730	Confirm(1020)Report(1710)Unknown(0)	SNV
SJMPAL005001	SJMPAL005001_R4	12	25398285	C	A	25398285	2783.77	182	89	91	60	0.50	63	2	37|37	rs121913530	0	missense	0	NM_033360	KRAS	25357723	25403865	-	GGT	TGT	Gly	Cys	p.G12C	189	e2	6	4682	Confirm(769)Report(3913)Unknown(0)	SNV
SJMPAL046471	SJMPAL046471_D2	19	17945969	C	T	17945969	1367.77	107	60	47	60	0.44	108	1	39	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	CGG	CAG	Arg	Gln	p.R657Q	1124	e15	24	28	Confirm(8)Report(15)Unknown(5)	SNV
SJMPAL046471	SJMPAL046471_D4	19	17945969	C	T	17945969	1125.77	86	47	38	60	0.44	108	1	39	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	CGG	CAG	Arg	Gln	p.R657Q	1124	e15	24	28	Confirm(8)Report(15)Unknown(5)	SNV
SJMPAL042787	SJMPAL042787_D2	19	17948006	G	A	17948006	2006.77	77	3	74	60	0.96	132	6	0|0|41|41|82|82	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	GCG	GTG	Ala	Val	p.A573V	1124	e13	24	34	Confirm(8)Report(26)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	19	17948006	G	A	17948006	2172.77	70	1	69	60	0.99	132	6	0|0|41|41|82|82	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	GCG	GTG	Ala	Val	p.A573V	1124	e13	24	34	Confirm(8)Report(26)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D2	19	17949108	C	T	17949108	234.77	135	117	18	60	0.13	92	0	0	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	ATG	ATA	Met	Ile	p.M511I	1124	e11	24	26	Confirm(6)Report(20)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D4	19	17949108	C	T	17949108	24.78	167	154	13	60	0.08	92	0	0	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	ATG	ATA	Met	Ile	p.M511I	1124	e11	24	26	Confirm(6)Report(20)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D2	19	17949108	C	T	17949108	1195.77	170	117	53	60	0.31	266	1	41	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	ATG	ATA	Met	Ile	p.M511I	1124	e11	24	26	Confirm(6)Report(20)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D3	19	17949108	C	T	17949108	1852.77	219	148	70	60	0.32	266	1	41	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	ATG	ATA	Met	Ile	p.M511I	1124	e11	24	26	Confirm(6)Report(20)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D3	19	17949108	C	T	17949108	NA	198	188	10	NA	0.05	92	0	0	NA	0	missense	0	NM_000215	JAK3	17935593	17958841	-	ATG	ATA	Met	Ile	p.M511I	1124	e11	24	26	Confirm(6)Report(20)Unknown(0)	SNV
SJMPAL011914	SJMPAL011914_D1	X	133511696	T	A	133511696	1734.77	86	22	64	60	0.74	91	0	0	NA	0	missense	0	NM_001015877	PHF6	133507342	133562822	+	TGT	AGT	Cys	Ser	p.C17S	365	e2	11	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	X	133547605	G	GA	133547605	1566.73	51	1	46	60	0.90	59	4	NA	NA	0	frame_shift_ins	0	NM_001015877	PHF6	133507342	133562822	+	AGA	AGA	Arg	Arg	p.R168fs	365	e6	11	0	0	INDEL
SJMPAL016447	SJMPAL016447_D3	X	133547605	G	GA	133547605	1672.73	59	2	50	60	0.85	59	4	NA	NA	0	frame_shift_ins	0	NM_001015877	PHF6	133507342	133562822	+	AGA	AGA	Arg	Arg	p.R168fs	365	e6	11	0	0	INDEL
SJMPAL016447	SJMPAL016447_D4	X	133547605	G	GA	133547605	2279.73	72	1	66	60	0.92	59	4	NA	NA	0	frame_shift_ins	0	NM_001015877	PHF6	133507342	133562822	+	AGA	AGA	Arg	Arg	p.R168fs	365	e6	11	0	0	INDEL
SJMPAL041120	SJMPAL041120_D5	X	133551260	AGACTTAC	AGGGGGGCT	133551267	1782.73	160	122	37	60	0.23	181	0	NA	NA	0	frame_shift_ins	0	NM_001015877	PHF6	133507342	133562822	+	AAG	AAG	Lys	Lys	p.K299fs	365	e9	11	0	0	INDEL
SJMPAL017976	SJMPAL017976_D2	3	47058705	T	A	47058705	2202.77	86	12	74	60	0.86	113	0	0	NA	0	nonsense	0	NM_014159	SETD2	47057898	47205467	-	AAG	TAG	Lys	*	p.K2525*	2564	e21	21	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	3	47058705	T	A	47058705	1543.77	54	6	48	60	0.89	113	0	0	NA	0	nonsense	0	NM_014159	SETD2	47057898	47205467	-	AAG	TAG	Lys	*	p.K2525*	2564	e21	21	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	3	47058705	T	A	47058705	858.77	77	43	34	60	0.44	113	0	0	NA	0	nonsense	0	NM_014159	SETD2	47057898	47205467	-	AAG	TAG	Lys	*	p.K2525*	2564	e21	21	0	0	SNV
SJMPAL041118	SJMPAL041118_D2	3	47127791	TGTGAGTGTGTGTT	TTCCG	47127804	1179.73	82	62	14	60	0.17	143	0	NA	NA	0	in-frame_del	0	NM_014159	SETD2	47057898	47205467	-	ACA	ACA	Thr	Thr	p.T1761del	2564	e11	21	0	0	INDEL
SJMPAL041118	SJMPAL041118_D3	3	47127791	TGTGAGTGTGTGTT	TTCCG	47127804	1651.73	97	73	19	60	0.20	143	0	NA	NA	0	in-frame_del	0	NM_014159	SETD2	47057898	47205467	-	ACA	ACA	Thr	Thr	p.T1761del	2564	e11	21	0	0	INDEL
SJMPAL041118	SJMPAL041118_D4	3	47127791	TGTGAGTGTGTGTT	TTCCG	47127804	234.73	85	76	5	60	0.06	143	0	NA	NA	0	in-frame_del	0	NM_014159	SETD2	47057898	47205467	-	ACA	ACA	Thr	Thr	p.T1761del	2564	e11	21	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	12	11992217	CGCTATCGA	CGAGGCTT	11992225	660.73	31	18	13	59.76	0.42	26	0	NA	NA	0	frame_shift_del	0	NM_001987	ETV6	11802788	12048325	+	CGC	CGC	Arg	Arg	p.R103fs	452	e3	8	0	0	INDEL
SJMPAL046470	SJMPAL046470_D3	12	11992217	CGCTATCGA	CGAGGCTT	11992225	157.73	19	12	4	60	0.21	26	0	NA	NA	0	frame_shift_del	0	NM_001987	ETV6	11802788	12048325	+	CGC	CGC	Arg	Arg	p.R103fs	452	e3	8	0	0	INDEL
SJMPAL040033	SJMPAL040033_D2	12	11992224	G	A	11992224	151.77	37	29	8	60	0.22	34	0	0	NA	0	missense	0	NM_001987	ETV6	11802788	12048325	+	CGA	CAA	Arg	Gln	p.R105Q	452	e3	8	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	12	12038875	A	G	12038875	630.77	97	64	33	60	0.34	43	0	0	NA	0	missense	0	NM_001987	ETV6	11802788	12048325	+	ACC	GCC	Thr	Ala	p.T390A	452	e7	8	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	12	49420539	A	T	49420539	2177.77	160	90	70	60	0.44	85	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	TAT	TAA	Tyr	*	p.Y5070*	5537	e48	54	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040028	SJMPAL040028_D3	12	49420539	A	T	49420539	596.77	55	34	21	60	0.38	85	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	TAT	TAA	Tyr	*	p.Y5070*	5537	e48	54	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040028	SJMPAL040028_D4	12	49420539	A	T	49420539	1346.77	87	46	41	60	0.47	85	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	TAT	TAA	Tyr	*	p.Y5070*	5537	e48	54	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040036	SJMPAL040036_D3	12	49420688	G	A	49420688	888.77	82	49	33	60	0.40	113	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	CGA	TGA	Arg	*	p.R5021*	5537	e48	54	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	12	49420688	G	A	49420688	1774.77	86	25	61	60	0.71	113	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	CGA	TGA	Arg	*	p.R5021*	5537	e48	54	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	12	49420688	G	A	49420688	896.77	81	48	33	60	0.41	113	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	CGA	TGA	Arg	*	p.R5021*	5537	e48	54	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	12	49420688	G	A	49420688	1507.77	124	66	58	60	0.47	113	0	0	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	CGA	TGA	Arg	*	p.R5021*	5537	e48	54	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL042789	SJMPAL042789_D4	12	49428207	GC	G	49428208	1314.73	107	67	37	60.1	0.35	27	0	NA	NA	0	frame_shift_del	0	NM_003482	KMT2D	49412758	49449107	-	GCT	GCT	Ala	Ala	p.A3498fs	5537	e37	54	0	0	INDEL
SJMPAL040034	SJMPAL040034_D2	12	49433394	G	A	49433394	408.77	25	9	16	60	0.64	18	1	37	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	CGA	TGA	Arg	*	p.R2685*	5537	e32	54	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL040034	SJMPAL040034_D3	12	49433394	G	A	49433394	454.77	38	21	16	60	0.42	18	1	37	NA	0	nonsense	0	NM_003482	KMT2D	49412758	49449107	-	CGA	TGA	Arg	*	p.R2685*	5537	e32	54	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL040036	SJMPAL040036_D3	21	36206890	G	GCCCT	36206890	1390.73	42	20	22	60	0.52	31	0	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	CAG	CAG	Gln	Gln	p.Q208fs	480	e7	9	0	0	INDEL
SJMPAL040036	SJMPAL040036_D4	21	36206890	G	GCCCT	36206890	917.73	36	20	15	60	0.42	31	0	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	CAG	CAG	Gln	Gln	p.Q208fs	480	e7	9	0	0	INDEL
SJMPAL040036	SJMPAL040036_D5	21	36206890	G	GCCCT	36206890	1493.73	55	31	24	60	0.44	31	0	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	CAG	CAG	Gln	Gln	p.Q208fs	480	e7	9	0	0	INDEL
SJMPAL040036	SJMPAL040036_D2	21	36206890	G	GCCCT	36206890	1950.73	69	36	31	59.76	0.45	31	0	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	CAG	CAG	Gln	Gln	p.Q208fs	480	e7	9	0	0	INDEL
SJMPAL011911	SJMPAL011911_D1	21	36206892	C	CGG	36206892	885.73	38	17	20	60.28	0.53	81	0	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	CGG	CGG	Arg	Arg	p.R207fs	480	e7	9	0	0	INDEL
SJMPAL011911	SJMPAL011911_D2	21	36206892	C	CGG	36206892	1378.73	41	11	30	60.26	0.73	81	0	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	CGG	CGG	Arg	Arg	p.R207fs	480	e7	9	0	0	INDEL
SJMPAL017973	SJMPAL017973_D2	21	36231792	C	T	36231792	2736.77	187	83	103	60	0.55	185	0	0	NA	0	missense	0	NM_001754	RUNX1	36160098	36421595	-	GAT	AAT	Asp	Asn	p.D198N	480	e6	9	27	Confirm(15)Report(12)Unknown(0)	SNV
SJMPAL017973	SJMPAL017973_D3	21	36231792	C	T	36231792	2351.77	184	99	85	60	0.46	185	0	0	NA	0	missense	0	NM_001754	RUNX1	36160098	36421595	-	GAT	AAT	Asp	Asn	p.D198N	480	e6	9	27	Confirm(15)Report(12)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D2	21	36231792	C	T	36231792	4023.77	227	96	131	60	0.58	162	0	0	NA	0	missense	0	NM_001754	RUNX1	36160098	36421595	-	GAT	AAT	Asp	Asn	p.D198N	480	e6	9	27	Confirm(15)Report(12)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D3	21	36231792	C	T	36231792	5235.77	254	80	174	60	0.69	162	0	0	NA	0	missense	0	NM_001754	RUNX1	36160098	36421595	-	GAT	AAT	Asp	Asn	p.D198N	480	e6	9	27	Confirm(15)Report(12)Unknown(0)	SNV
SJMPAL042794	SJMPAL042794_D2	21	36252938	C	CCGGCTGT	36252938	3759.73	104	57	45	60.52	0.43	128	6	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	GCT	GCT	Ala	Ala	p.A142fs	480	e5	9	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL042794	SJMPAL042794_D3	21	36252938	C	CCGGCTGT	36252938	3174.72	75	37	36	60.43	0.48	128	6	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	GCT	GCT	Ala	Ala	p.A142fs	480	e5	9	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL042794	SJMPAL042794_D4	21	36252938	C	CCGGCTGT	36252938	4031.73	87	43	43	60	0.49	128	6	NA	NA	0	frame_shift_ins	0	NM_001754	RUNX1	36160098	36421595	-	GCT	GCT	Ala	Ala	p.A142fs	480	e5	9	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL012420	SJMPAL012420_D2	16	3779814	C	T	3779814	661.77	47	24	23	60	0.49	8	0	0	NA	0	nonsense	0	NM_004380	CREBBP	3775056	3930121	-	TGG	TAG	Trp	*	p.W1745*	2442	e31	31	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL012420	SJMPAL012420_D3	16	3779814	C	T	3779814	617.77	60	36	24	60	0.40	8	0	0	NA	0	nonsense	0	NM_004380	CREBBP	3775056	3930121	-	TGG	TAG	Trp	*	p.W1745*	2442	e31	31	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D3	16	3781897	G	GGCCC	3781897	365.73	221	203	14	60	0.06	421	0	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	AAC	AAC	Asn	Asn	p.N1590fs	2442	e29	31	0	0	INDEL
SJMPAL017976	SJMPAL017976_D4	16	3781897	G	GGCCC	3781897	NA	238	228	10	NA	0.04	421	0	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	AAC	AAC	Asn	Asn	p.N1590fs	2442	e29	31	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	16	3788618	G	A	3788618	2473.77	175	75	100	60	0.57	231	1	41	rs398124146	0	missense	0	NM_004380	CREBBP	3775056	3930121	-	CGC	TGC	Arg	Cys	p.R1446C	2442	e26	31	48	Confirm(38)Report(10)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D2	16	3795353	A	ACCCCC	3795353	3233.06	194	140	48	60	0.25	310	0	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	TTC	TTC	Phe	Phe	p.F1280fs	2442	e22	31	0	0	INDEL
SJMPAL041117	SJMPAL041117_D3	16	3795353	A	ACCCCC	3795353	4731.73	198	127	64	60.05	0.32	310	0	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	TTC	TTC	Phe	Phe	p.F1280fs	2442	e22	31	0	0	INDEL
SJMPAL017976	SJMPAL017976_D2	16	3807896	A	AGGGGG	3807896	4835.73	306	222	74	60.11	0.24	329	3	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	TAT	TAT	Tyr	Tyr	p.Y1175fs	2442	e18	31	0	0	INDEL
SJMPAL017976	SJMPAL017976_D3	16	3807896	A	AGGGGG	3807896	2527.73	197	149	40	60	0.20	329	3	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	TAT	TAT	Tyr	Tyr	p.Y1175fs	2442	e18	31	0	0	INDEL
SJMPAL017976	SJMPAL017976_D4	16	3807896	A	AGGGGG	3807896	NA	314	301	13	NA	0.04	329	3	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	TAT	TAT	Tyr	Tyr	p.Y1175fs	2442	e18	31	0	0	INDEL
SJMPAL046468	SJMPAL046468_D2	16	3817732	G	GC	3817732	152.73	118	106	12	60	0.10	114	0	NA	NA	0	frame_shift_ins	0	NM_004380	CREBBP	3775056	3930121	-	CCG	CCG	Pro	Pro	p.P1080fs	2442	e16	31	0	0	INDEL
SJMPAL043773	SJMPAL043773_R1	4	153244092	G	A	153244092	1066.77	194	135	59	60	0.30	36	0	0	NA	0	missense	0	NM_033632	FBXW7	153242410	153456185	-	CGG	TGG	Arg	Trp	p.R689W	707	e12	12	126	Confirm(94)Report(32)Unknown(0)	SNV
SJMPAL040039	SJMPAL040039_D2	4	153244259	TTG	TTTTCCCGGGAGTC	153244261	4865.73	97	49	42	60	0.43	101	0	NA	NA	0	frame_shift_ins	0	NM_033632	FBXW7	153242410	153456185	-	AAC	AAC	Asn	Asn	p.N633fs	707	e12	12	0	0	INDEL
SJMPAL040039	SJMPAL040039_D3	4	153244259	TTG	TTTTCCCGGGAGTC	153244261	1406.73	45	26	12	60	0.27	101	0	NA	NA	0	frame_shift_ins	0	NM_033632	FBXW7	153242410	153456185	-	AAC	AAC	Asn	Asn	p.N633fs	707	e12	12	0	0	INDEL
SJMPAL046466	SJMPAL046466_D2	4	153249384	C	T	153249384	1133.77	116	71	45	60	0.39	88	5	0|35|41|41|82	NA	0	missense	0	NM_033632	FBXW7	153242410	153456185	-	CGT	CAT	Arg	His	p.R465H	707	e9	12	552	Confirm(438)Report(114)Unknown(0)	SNV
SJMPAL046466	SJMPAL046466_D4	4	153249384	C	T	153249384	NA	103	94	9	NA	0.09	88	5	0|35|41|41|82	NA	0	missense	0	NM_033632	FBXW7	153242410	153456185	-	CGT	CAT	Arg	His	p.R465H	707	e9	12	552	Confirm(438)Report(114)Unknown(0)	SNV
SJMPAL043773	SJMPAL043773_R1	7	148512003	T	TGAGCACAA	148512003	764.73	35	26	9	60	0.26	39	0	NA	NA	0	intron-NS	0	NM_004456	EZH2	148504464	148581441	-	0	0	0	0	0	751	e14+3	20	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	7	148512074	C	T	148512074	651.77	60	30	30	60	0.50	69	0	0	NA	0	missense	0	NM_004456	EZH2	148504464	148581441	-	TGT	TAT	Cys	Tyr	p.C535Y	751	e14	20	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	7	148512074	C	T	148512074	221.77	19	7	12	60	0.63	69	0	0	NA	0	missense	0	NM_004456	EZH2	148504464	148581441	-	TGT	TAT	Cys	Tyr	p.C535Y	751	e14	20	0	0	SNV
SJMPAL016343	SJMPAL016343_D2	9	139390778	C	CTATATA	139390778	644.73	28	19	8	60	0.29	7	0	NA	NA	0	in-frame_ins	0	NM_017617	NOTCH1	139388896	139440238	-	TCG	TCG	Ser	Ser	p.S2471ins	2555	e34	34	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL016447	SJMPAL016447_D2	9	139390877	C	CGG	139390877	702.73	42	23	17	60.26	0.40	57	0	NA	NA	0	frame_shift_ins	0	NM_017617	NOTCH1	139388896	139440238	-	CCG	CCG	Pro	Pro	p.P2438fs	2555	e34	34	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL016447	SJMPAL016447_D3	9	139390877	C	CGG	139390877	2336.73	92	34	52	60	0.57	57	0	NA	NA	0	frame_shift_ins	0	NM_017617	NOTCH1	139388896	139440238	-	CCG	CCG	Pro	Pro	p.P2438fs	2555	e34	34	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL016447	SJMPAL016447_D4	9	139390877	C	CGG	139390877	1167.73	74	43	28	60	0.38	57	0	NA	NA	0	frame_shift_ins	0	NM_017617	NOTCH1	139388896	139440238	-	CCG	CCG	Pro	Pro	p.P2438fs	2555	e34	34	1	Confirm(0)Report(0)Unknown(1)	INDEL
SJMPAL016343	SJMPAL016343_D2	9	139397720	TG	TCGGC	139397721	2057.73	116	69	45	60.09	0.39	109	0	NA	NA	0	in-frame_ins	0	NM_017617	NOTCH1	139388896	139440238	-	CAG	CAG	Gln	Gln	p.Q1694ins	2555	e27	34	0	0	INDEL
SJMPAL016343	SJMPAL016343_R1	9	139397720	TG	TCGGC	139397721	1147.73	113	82	30	60.1	0.27	109	0	NA	NA	0	in-frame_ins	0	NM_017617	NOTCH1	139388896	139440238	-	CAG	CAG	Gln	Gln	p.Q1694ins	2555	e27	34	0	0	INDEL
SJMPAL042787	SJMPAL042787_D2	9	139399350	C	G	139399350	868.77	103	63	40	60	0.39	115	2	0|68	NA	0	missense	0	NM_017617	NOTCH1	139388896	139440238	-	CGC	CCC	Arg	Pro	p.R1598P	2555	e26	34	71	Confirm(8)Report(63)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	9	139399350	C	G	139399350	1050.77	85	49	36	60	0.42	115	2	0|68	NA	0	missense	0	NM_017617	NOTCH1	139388896	139440238	-	CGC	CCC	Arg	Pro	p.R1598P	2555	e26	34	71	Confirm(8)Report(63)Unknown(0)	SNV
SJMPAL042795	SJMPAL042795_D2	17	7577086	TGTGCGCC	TGCCCAACCGG	7577093	1314.73	181	140	26	60	0.14	356	0	NA	NA	0	frame_shift_del	0	NM_001126112	TP53	7571720	7590868	-	CGC	CGC	Arg	Arg	p.R283fs	393	e8	11	0	0	INDEL
SJMPAL042795	SJMPAL042795_D3	17	7577086	TGTGCGCC	TGCCCAACCGG	7577093	1346.73	271	227	30	60	0.11	356	0	NA	NA	0	frame_shift_del	0	NM_001126112	TP53	7571720	7590868	-	CGC	CGC	Arg	Arg	p.R283fs	393	e8	11	0	0	INDEL
SJMPAL042795	SJMPAL042795_D4	17	7577086	TGTGCGCC	TGCCCAACCGG	7577093	285.73	176	151	12	60	0.07	356	0	NA	NA	0	frame_shift_del	0	NM_001126112	TP53	7571720	7590868	-	CGC	CGC	Arg	Arg	p.R283fs	393	e8	11	0	0	INDEL
SJMPAL041122	SJMPAL041122_D2	17	7577094	G	A	7577094	12550.77	408	20	387	60	0.95	518	6	0|37|40|41|41|76	rs28934574	0	missense	0	NM_001126112	TP53	7571720	7590868	-	CGG	TGG	Arg	Trp	p.R282W	393	e8	11	1946	Confirm(1190)Report(756)Unknown(0)	SNV
SJMPAL041122	SJMPAL041122_D3	17	7577094	G	A	7577094	9554.77	319	13	305	60	0.96	518	6	0|37|40|41|41|76	rs28934574	0	missense	0	NM_001126112	TP53	7571720	7590868	-	CGG	TGG	Arg	Trp	p.R282W	393	e8	11	1946	Confirm(1190)Report(756)Unknown(0)	SNV
SJMPAL041122	SJMPAL041122_D4	17	7577094	G	A	7577094	8035.77	282	27	255	60	0.90	518	6	0|37|40|41|41|76	rs28934574	0	missense	0	NM_001126112	TP53	7571720	7590868	-	CGG	TGG	Arg	Trp	p.R282W	393	e8	11	1946	Confirm(1190)Report(756)Unknown(0)	SNV
SJMPAL017975	SJMPAL017975_D2	20	31021685	CCCACTAAAGAG	CTCCACTAGATA	31021696	2878.73	177	95	76	60.18	0.43	238	2	NA	NA	0	frame_shift_ins	0	NM_015338	ASXL1	30946147	31027122	+	CCC	CCC	Pro	Pro	p.P562fs	1541	e11	12	0	0	INDEL
SJMPAL017975	SJMPAL017975_D3	20	31021685	CCCACTAAAGAG	CTCCACTAGATA	31021696	2227.73	155	92	60	60	0.39	238	2	NA	NA	0	frame_shift_ins	0	NM_015338	ASXL1	30946147	31027122	+	CCC	CCC	Pro	Pro	p.P562fs	1541	e11	12	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	20	31022390	A	AG	31022390	604.73	49	24	21	60	0.43	35	0	NA	NA	0	frame_shift_ins	0	NM_015338	ASXL1	30946147	31027122	+	CGA	CGA	Arg	Arg	p.R625fs	1541	e12	12	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL046470	SJMPAL046470_D3	20	31022390	A	AG	31022390	1015.73	50	15	32	60	0.64	35	0	NA	NA	0	frame_shift_ins	0	NM_015338	ASXL1	30946147	31027122	+	CGA	CGA	Arg	Arg	p.R625fs	1541	e12	12	2	Confirm(0)Report(0)Unknown(2)	INDEL
SJMPAL012419	SJMPAL012419_D2	20	31022712	CAGAGGGCTACAGTTGGACTCACA	CCTGGTGC	31022735	3610.73	128	100	23	59.93	0.18	74	0	NA	NA	0	frame_shift_del	0	NM_015338	ASXL1	30946147	31027122	+	GCT	GCT	Ala	Ala	p.A735fs	1541	e12	12	0	0	INDEL
SJMPAL012419	SJMPAL012419_R2	20	31022712	CAGAGGGCTACAGTTGGACTCACA	CCTGGTGC	31022735	3954.73	213	180	27	60	0.13	74	0	NA	NA	0	frame_shift_del	0	NM_015338	ASXL1	30946147	31027122	+	GCT	GCT	Ala	Ala	p.A735fs	1541	e12	12	0	0	INDEL
SJMPAL017976	SJMPAL017976_D2	20	31023408	C	T	31023408	879.77	166	126	40	60	0.24	127	0	0	rs397515401	0	nonsense	0	NM_015338	ASXL1	30946147	31027122	+	CGA	TGA	Arg	*	p.R965*	1541	e12	12	15	Confirm(9)Report(6)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D3	20	31023408	C	T	31023408	1495.77	186	133	53	60	0.28	127	0	0	rs397515401	0	nonsense	0	NM_015338	ASXL1	30946147	31027122	+	CGA	TGA	Arg	*	p.R965*	1541	e12	12	15	Confirm(9)Report(6)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D4	20	31023408	C	T	31023408	43.77	141	129	12	59.9	0.09	127	0	0	rs397515401	0	nonsense	0	NM_015338	ASXL1	30946147	31027122	+	CGA	TGA	Arg	*	p.R965*	1541	e12	12	15	Confirm(9)Report(6)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D2	2	25966454	T	TCAGG	25966454	4520.73	120	43	68	60.09	0.57	77	0	NA	NA	0	frame_shift_ins	0	NM_018263	ASXL2	25962253	26101312	-	AGC	AGC	Ser	Ser	p.S918fs	1435	e12	12	0	0	INDEL
SJMPAL012418	SJMPAL012418_D3	2	25966454	T	TCAGG	25966454	2650.73	100	52	41	60	0.41	77	0	NA	NA	0	frame_shift_ins	0	NM_018263	ASXL2	25962253	26101312	-	AGC	AGC	Ser	Ser	p.S918fs	1435	e12	12	0	0	INDEL
SJMPAL012418	SJMPAL012418_D4	2	25966454	T	TCAGG	25966454	1482.73	63	36	24	60.17	0.38	77	0	NA	NA	0	frame_shift_ins	0	NM_018263	ASXL2	25962253	26101312	-	AGC	AGC	Ser	Ser	p.S918fs	1435	e12	12	0	0	INDEL
SJMPAL043773	SJMPAL043773_R1	6	102372588	C	A	102372588	173.77	107	91	16	60	0.15	34	0	0	NA	0	missense	0	NM_021956	GRIK2	101846861	102517958	+	CAG	AAG	Gln	Lys	p.Q621K	908	e12	16	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	16	70954681	C	T	70954681	465.77	121	93	28	60.09	0.23	62	0	0	rs572307208	5007;1	missense	0	NM_001270974	HYDIN	70841287	71264625	-	CGG	CAG	Arg	Gln	p.R2533Q	5121	e46	86	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	16	70954681	C	T	70954681	486.77	84	61	23	60	0.27	62	0	0	rs572307208	5007;1	missense	0	NM_001270974	HYDIN	70841287	71264625	-	CGG	CAG	Arg	Gln	p.R2533Q	5121	e46	86	0	0	SNV
SJMPAL012422	SJMPAL012422_D2	16	71015314	T	A	71015314	873.77	136	100	36	60	0.26	102	0	0	NA	0	missense	0	NM_001270974	HYDIN	70841287	71264625	-	GAT	GTT	Asp	Val	p.D1497V	5121	e29	86	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	16	71015314	T	A	71015314	323.77	99	81	18	60	0.18	102	0	0	NA	0	missense	0	NM_001270974	HYDIN	70841287	71264625	-	GAT	GTT	Asp	Val	p.D1497V	5121	e29	86	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	16	71015314	T	A	71015314	533.77	71	49	22	60	0.31	102	0	0	NA	0	missense	0	NM_001270974	HYDIN	70841287	71264625	-	GAT	GTT	Asp	Val	p.D1497V	5121	e29	86	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	17	30322782	GT	G	30322783	NA	65	42	23	NA	0.35	59	0	NA	NA	0	splice	0	NM_015355	SUZ12	30264044	30328057	+	ACA	0	Thr	0	p.T598sp	739	e14+1	16	0	0	indel
SJMPAL040038	SJMPAL040038_D2	17	79410561	G	A	79410561	NA	9	3	6	NA	0.67	1	0	0	NA	0	missense	0	NM_001291324	BAHCC1	79373521	79433358	+	CGG	CAG	Arg	Gln	p.R674Q	2584	e4	28	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	79427660	T	TC	79427660	136.73	38	29	8	60	0.21	47	0	NA	NA	0	frame_shift_ins	0	NM_001291324	BAHCC1	79373521	79433358	+	TCC	TCC	Ser	Ser	p.S2020fs	2584	e25	28	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	19	9057393	G	GT	9057393	108.73	43	34	8	60	0.19	73	0	NA	NA	0	frame_shift_ins	0	NM_024690	MUC16	8959520	9092018	-	ACT	ACT	Thr	Thr	p.T10018fs	14507	e3	84	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	19	9072084	A	T	9072084	251.77	77	64	13	60	0.17	102	0	0	NA	0	missense	0	NM_024690	MUC16	8959520	9092018	-	ATA	AAA	Ile	Lys	p.I5121K	14507	e3	84	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	9072094	A	T	9072094	183.77	73	60	13	60	0.18	92	0	0	NA	0	missense	0	NM_024690	MUC16	8959520	9092018	-	TTT	ATT	Phe	Ile	p.F5118I	14507	e3	84	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	19	10870452	G	A	10870452	236.77	230	204	26	60	0.11	210	0	0	NA	0	missense	0	NM_001005360	DNM2	10828729	10942586	+	CGG	CAG	Arg	Gln	p.R67Q	870	e2	21	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	19	10870452	G	A	10870452	NA	251	242	9	NA	0.04	210	0	0	NA	0	missense	0	NM_001005360	DNM2	10828729	10942586	+	CGG	CAG	Arg	Gln	p.R67Q	870	e2	21	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	19	10870452	G	A	10870452	NA	277	261	16	NA	0.06	210	0	0	NA	0	missense	0	NM_001005360	DNM2	10828729	10942586	+	CGG	CAG	Arg	Gln	p.R67Q	870	e2	21	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	19	10887838	G	T	10887838	1678.77	294	207	87	60	0.30	33	0	0	NA	0	nonsense	0	NM_001005360	DNM2	10828729	10942586	+	GAG	TAG	Glu	*	p.E212*	870	e5	21	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	19	10922991	G	A	10922991	449.77	103	81	22	60	0.21	190	0	0	rs121909093	0	missense	0	NM_001005360	DNM2	10828729	10942586	+	GGC	AGC	Gly	Ser	p.G537S	870	e15	21	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	X	41029721	A	C	41029721	1069.77	29	0	29	60	1.00	19	0	0	NA	0	splice	0	NM_001039590	USP9X	40944888	41095832	+	TCG	0	Ser	0	p.S959sp	2570	e19-2	45	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	X	41029721	A	C	41029721	769.78	26	1	24	60	0.92	19	0	0	NA	0	splice	0	NM_001039590	USP9X	40944888	41095832	+	TCG	0	Ser	0	p.S959sp	2570	e19-2	45	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	X	41029721	A	C	41029721	841.77	23	0	23	60	1.00	19	0	0	NA	0	splice	0	NM_001039590	USP9X	40944888	41095832	+	TCG	0	Ser	0	p.S959sp	2570	e19-2	45	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	X	41075805	C	CCCT	41075805	1934.73	100	61	35	60.11	0.35	138	0	NA	NA	0	in-frame_ins	0	NM_001039590	USP9X	40944888	41095832	+	AAC	AAC	Asn	Asn	p.N1995ins	2570	e35	45	0	0	INDEL
SJMPAL042787	SJMPAL042787_D3	X	41075805	C	CCCT	41075805	2523.73	100	53	44	60	0.44	138	0	NA	NA	0	in-frame_ins	0	NM_001039590	USP9X	40944888	41095832	+	AAC	AAC	Asn	Asn	p.N1995ins	2570	e35	45	0	0	INDEL
SJMPAL043514	SJMPAL043514_D1	X	144905337	T	C	144905337	426.77	69	51	18	60	0.26	106	0	0	NA	0	missense	0	NM_001144005	SLITRK2	144899347	144907360	+	CTG	CCG	Leu	Pro	p.L465P	845	e5	5	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	1	6257784	C	CT	6257784	1298.73	164	92	58	60.14	0.35	175	2	NA	NA	0	frame_shift_ins	0	NM_000983	RPL22	6245080	6259679	-	AAG	AAG	Lys	Lys	p.K15fs	128	e2	4	2	Confirm(2)Report(0)Unknown(0)	INDEL
SJMPAL004013	SJMPAL004013_D2	1	45470343	C	T	45470343	211.77	183	161	22	59.99	0.12	314	0	0	rs551597519	5006;2	missense	0	NM_024602	HECTD3	45468220	45477027	-	GTG	ATG	Val	Met	p.V691M	861	e16	21	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	205028802	C	CT	205028802	102.73	35	25	6	60	0.17	58	0	NA	NA	0	frame_shift_ins	0	NM_005076	CNTN2	205012340	205047171	+	GCC	GCC	Ala	Ala	p.A263fs	1040	e7	23	0	0	INDEL
SJMPAL040030	SJMPAL040030_D2	1	205041695	G	A	205041695	2537.77	249	144	105	60	0.42	161	3	0|41|82	NA	0	missense	0	NM_005076	CNTN2	205012340	205047171	+	CGA	CAA	Arg	Gln	p.R939Q	1040	e21	23	0	0	SNV
SJMPAL040030	SJMPAL040030_D3	1	205041695	G	A	205041695	2424.77	173	78	94	59.97	0.54	161	3	0|41|82	NA	0	missense	0	NM_005076	CNTN2	205012340	205047171	+	CGA	CAA	Arg	Gln	p.R939Q	1040	e21	23	0	0	SNV
SJMPAL040030	SJMPAL040030_D4	1	205041695	G	A	205041695	2225.77	162	75	87	60	0.54	161	3	0|41|82	NA	0	missense	0	NM_005076	CNTN2	205012340	205047171	+	CGA	CAA	Arg	Gln	p.R939Q	1040	e21	23	0	0	SNV
SJMPAL040030	SJMPAL040030_D5	1	205041695	G	A	205041695	1692.77	126	68	58	60	0.46	161	3	0|41|82	NA	0	missense	0	NM_005076	CNTN2	205012340	205047171	+	CGA	CAA	Arg	Gln	p.R939Q	1040	e21	23	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	2	39075497	C	T	39075497	751.77	73	40	33	60	0.45	107	0	0	NA	0	missense	0	NM_198963	DHX57	39024876	39103021	-	GGT	GAT	Gly	Asp	p.G693D	1386	e10	24	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	2	39075497	C	T	39075497	283.77	43	33	10	60	0.23	107	0	0	NA	0	missense	0	NM_198963	DHX57	39024876	39103021	-	GGT	GAT	Gly	Asp	p.G693D	1386	e10	24	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	2	39075497	C	T	39075497	508.77	40	19	21	60	0.53	107	0	0	NA	0	missense	0	NM_198963	DHX57	39024876	39103021	-	GGT	GAT	Gly	Asp	p.G693D	1386	e10	24	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	2	71797833	C	T	71797833	160.77	45	34	11	60	0.24	43	0	0	NA	0	missense	0	NM_001130987	DYSF	71693832	71913893	+	CGC	TGC	Arg	Cys	p.R1064C	2119	e29	56	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	2	71797833	C	T	71797833	NA	47	42	5	NA	0.11	43	0	0	NA	0	missense	0	NM_001130987	DYSF	71693832	71913893	+	CGC	TGC	Arg	Cys	p.R1064C	2119	e29	56	0	0	SNV
SJMPAL040039	SJMPAL040039_D2	2	71886150	A	G	71886150	2274.77	205	108	97	60	0.47	240	1	33	NA	0	missense	0	NM_001130987	DYSF	71693832	71913893	+	GAC	GGC	Asp	Gly	p.D1633G	2119	e44	56	0	0	SNV
SJMPAL040039	SJMPAL040039_D3	2	71886150	A	G	71886150	743.77	92	56	36	60	0.39	240	1	33	NA	0	missense	0	NM_001130987	DYSF	71693832	71913893	+	GAC	GGC	Asp	Gly	p.D1633G	2119	e44	56	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	2	141458125	G	A	141458125	361.77	103	86	17	60	0.17	125	0	0	rs369842040	5007;1	missense	0	NM_018557	LRP1B	140988996	142889270	-	CGG	TGG	Arg	Trp	p.R2165W	4599	e41	91	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	2	141458125	G	A	141458125	806.77	76	49	27	60	0.36	125	0	0	rs369842040	5007;1	missense	0	NM_018557	LRP1B	140988996	142889270	-	CGG	TGG	Arg	Trp	p.R2165W	4599	e41	91	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D2	2	179415929	C	T	179415929	1136.77	183	137	46	60	0.25	187	0	0	NA	0	nonsense	0	NM_001267550	TTN	179390717	179672150	-	TGG	TGA	Trp	*	p.W30443*	35991	e336	363	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	2	179415929	C	T	179415929	1665.77	208	147	61	60	0.29	187	0	0	NA	0	nonsense	0	NM_001267550	TTN	179390717	179672150	-	TGG	TGA	Trp	*	p.W30443*	35991	e336	363	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	2	179457953	C	A	179457953	2905.77	297	157	140	60	0.47	347	0	0	rs397517640	0	missense	0	NM_001267550	TTN	179390717	179672150	-	GGT	GTT	Gly	Val	p.G19661V	35991	e299	363	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	2	179457953	C	A	179457953	5379.77	422	214	208	60	0.49	347	0	0	rs397517640	0	missense	0	NM_001267550	TTN	179390717	179672150	-	GGT	GTT	Gly	Val	p.G19661V	35991	e299	363	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	2	179457953	C	A	179457953	4135.77	421	242	179	60	0.43	347	0	0	rs397517640	0	missense	0	NM_001267550	TTN	179390717	179672150	-	GGT	GTT	Gly	Val	p.G19661V	35991	e299	363	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	228128662	T	A	228128662	364.77	126	102	24	60	0.19	184	0	0	NA	0	splice	0	NM_000091	COL4A3	228029281	228179508	+	CCA	0	Pro	0	p.P438sp	1670	e21+2	52	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	2	228137723	C	T	228137723	216.77	226	203	22	60	0.10	34	0	0	NA	0	missense	0	NM_000091	COL4A3	228029281	228179508	+	TCC	TTC	Ser	Phe	p.S606F	1670	e26	52	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	47364088	C	CA	47364088	60.73	36	30	5	60	0.14	67	0	NA	NA	0	frame_shift_ins	0	NM_025010	KLHL18	47324330	47388306	+	TAC	TAC	Tyr	Tyr	p.Y97fs	574	e3	10	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	3	107492370	G	GA	107492370	378.73	111	90	21	60	0.19	165	0	NA	NA	0	frame_shift_ins	0	NM_001142568	BBX	107241783	107530176	+	AGA	AGA	Arg	Arg	p.R601fs	941	e11	18	0	0	INDEL
SJMPAL040034	SJMPAL040034_D2	3	107508663	T	C	107508663	1659.77	137	66	71	60	0.52	13	0	0	NA	0	missense	0	NM_001142568	BBX	107241783	107530176	+	TTC	CTC	Phe	Leu	p.F745L	941	e14	18	0	0	SNV
SJMPAL040034	SJMPAL040034_D3	3	107508663	T	C	107508663	771.77	75	41	34	60	0.45	13	0	0	NA	0	missense	0	NM_001142568	BBX	107241783	107530176	+	TTC	CTC	Phe	Leu	p.F745L	941	e14	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	107517428	A	G	107517428	290.77	219	194	25	60	0.11	321	0	0	NA	0	missense	0	NM_001276286	BBX	107241783	107530176	+	CAT	CGT	His	Arg	p.H468R	628	e15	17	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	3	124132414	G	A	124132414	2048.77	137	51	85	60	0.62	119	0	0	rs367667422	5007;1	missense	0	NM_001024660	KALRN	123813558	124440036	+	CGC	CAC	Arg	His	p.R813H	2986	e14	60	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	3	124132414	G	A	124132414	664.77	56	31	24	60	0.43	119	0	0	rs367667422	5007;1	missense	0	NM_001024660	KALRN	123813558	124440036	+	CGC	CAC	Arg	His	p.R813H	2986	e14	60	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	3	124132414	G	A	124132414	724.77	122	87	35	60	0.29	119	0	0	rs367667422	5007;1	missense	0	NM_001024660	KALRN	123813558	124440036	+	CGC	CAC	Arg	His	p.R813H	2986	e14	60	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	3	130287199	G	A	130287199	1119.77	76	38	38	60	0.50	33	0	0	rs373191962	5006;2	missense	0	NM_001102608	COL6A6	130279178	130395888	+	GCC	ACC	Ala	Thr	p.A718T	2263	e5	36	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	3	130287199	G	A	130287199	817.77	65	35	30	60	0.46	33	0	0	rs373191962	5006;2	missense	0	NM_001102608	COL6A6	130279178	130395888	+	GCC	ACC	Ala	Thr	p.A718T	2263	e5	36	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	130313189	T	A	130313189	172.77	16	7	9	60	0.56	40	0	0	NA	0	splice	0	NM_001102608	COL6A6	130279178	130395888	+	CCC	0	Pro	0	p.P1511sp	2263	e17+2	36	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	4	57221528	G	A	57221528	779.77	73	42	31	60	0.42	67	0	0	NA	0	missense	0	NM_181806	AASDH	57204451	57253674	-	GCC	GTC	Ala	Val	p.A308V	1098	e6	15	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	4	57221528	G	A	57221528	767.77	71	46	25	60	0.35	67	0	0	NA	0	missense	0	NM_181806	AASDH	57204451	57253674	-	GCC	GTC	Ala	Val	p.A308V	1098	e6	15	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	128651884	C	T	128651884	153.77	55	46	9	60	0.16	78	0	0	rs368916292	0	missense	0	NM_031291	SLC25A31	128651555	128695447	+	CGG	TGG	Arg	Trp	p.R62W	315	e1	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	185724602	G	A	185724602	37.77	34	29	5	60	0.15	65	0	0	NA	0	missense	0	NM_001286710	ACSL1	185676749	185726942	-	CGT	TGT	Arg	Cys	p.R23C	698	e2	21	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	5	133902094	G	T	133902094	1338.77	144	85	59	60	0.41	134	1	0	NA	0	missense	0	NM_001289985	JADE2	133861340	133918920	+	GCT	TCT	Ala	Ser	p.A436S	850	e9	12	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	5	133914760	G	A	133914760	359.77	33	18	15	60	0.45	16	0	0	NA	0	missense	0	NM_001289985	JADE2	133861340	133918920	+	CGG	CAG	Arg	Gln	p.R769Q	850	e12	12	0	0	SNV
SJMPAL017975	SJMPAL017975_D3	5	133914760	G	A	133914760	279.77	24	14	10	60	0.42	16	0	0	NA	0	missense	0	NM_001289985	JADE2	133861340	133918920	+	CGG	CAG	Arg	Gln	p.R769Q	850	e12	12	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	5	140558894	T	G	140558894	4304.77	397	224	172	60	0.43	351	2	0|41	NA	0	missense	0	NM_019120	PCDHB8	140557371	140560081	+	TTA	GTA	Leu	Val	p.L427V	801	e1	1	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	5	140559584	G	A	140559584	460.77	198	169	28	56.84	0.14	30	0	0	NA	0	missense	0	NM_019120	PCDHB8	140557371	140560081	+	GCC	ACC	Ala	Thr	p.A657T	801	e1	1	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	5	140559584	G	A	140559584	NA	343	337	6	NA	0.02	30	0	0	NA	0	missense	0	NM_019120	PCDHB8	140557371	140560081	+	GCC	ACC	Ala	Thr	p.A657T	801	e1	1	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	5	149901187	C	T	149901187	1001.77	73	36	37	60	0.51	149	0	0	NA	0	missense	0	NM_001543	NDST1	149887674	149937773	+	ACG	ATG	Thr	Met	p.T124M	882	e2	15	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	5	149901187	C	T	149901187	1535.77	131	80	51	60	0.39	149	0	0	NA	0	missense	0	NM_001543	NDST1	149887674	149937773	+	ACG	ATG	Thr	Met	p.T124M	882	e2	15	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	5	149901187	C	T	149901187	1530.77	123	70	53	60	0.43	149	0	0	NA	0	missense	0	NM_001543	NDST1	149887674	149937773	+	ACG	ATG	Thr	Met	p.T124M	882	e2	15	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	5	149918844	T	C	149918844	219.77	63	48	15	60	0.24	126	0	0	NA	0	missense	0	NM_001543	NDST1	149887674	149937773	+	TAC	CAC	Tyr	His	p.Y498H	882	e7	15	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	6	41903745	C	CG	41903745	267.73	27	12	11	60	0.41	26	0	NA	NA	0	frame_shift_ins	0	NM_001760	CCND3	41902671	41909586	-	CGG	CGG	Arg	Arg	p.R271fs	292	e5	5	12	Confirm(12)Report(0)Unknown(0)	INDEL
SJMPAL016447	SJMPAL016447_D3	6	41903745	C	CG	41903745	786.73	75	32	30	60.29	0.40	26	0	NA	NA	0	frame_shift_ins	0	NM_001760	CCND3	41902671	41909586	-	CGG	CGG	Arg	Arg	p.R271fs	292	e5	5	12	Confirm(12)Report(0)Unknown(0)	INDEL
SJMPAL016447	SJMPAL016447_D4	6	41903745	C	CG	41903745	456.73	33	11	17	60	0.52	26	0	NA	NA	0	frame_shift_ins	0	NM_001760	CCND3	41902671	41909586	-	CGG	CGG	Arg	Arg	p.R271fs	292	e5	5	12	Confirm(12)Report(0)Unknown(0)	INDEL
SJMPAL046469	SJMPAL046469_D1	6	56482102	C	A	56482102	276.77	40	25	15	60	0.38	100	0	0	NA	0	nonsense	0	NM_001723	DST	56479375	56507694	-	GGA	TGA	Gly	*	p.G2055*	2649	e24	24	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	6	72922910	C	T	72922910	306.77	52	37	15	60	0.29	54	0	0	NA	0	nonsense	0	NM_001168407	RIMS1	72922514	73112845	+	CGA	TGA	Arg	*	p.R29*	1012	e1	25	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	6	72922910	C	T	72922910	278.77	60	46	14	60	0.23	54	0	0	NA	0	nonsense	0	NM_001168407	RIMS1	72922514	73112845	+	CGA	TGA	Arg	*	p.R29*	1012	e1	25	0	0	SNV
SJMPAL046469	SJMPAL046469_D1	6	157256670	A	T	157256670	1197.77	243	176	65	60	0.27	205	1	41	NA	0	missense	0	NM_020732	ARID1B	157099064	157531913	+	GAC	GTC	Asp	Val	p.D666V	2249	e5	20	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	6	157488274	G	C	157488274	207.77	74	61	13	60	0.18	79	0	0	NA	0	missense	0	NM_020732	ARID1B	157099064	157531913	+	GCG	CCG	Ala	Pro	p.A994P	2249	e10	20	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	7	5348876	T	C	5348876	184.77	61	49	12	55.15	0.20	163	0	0	NA	0	missense	0	NM_001080495	TNRC18	5346423	5463177	-	ATC	GTC	Ile	Val	p.I2838V	2968	e28	30	0	0	SNV
SJMPAL017981	SJMPAL017981_D2	7	5352775	C	T	5352775	708.77	54	23	31	59.38	0.57	38	2	2|2	NA	0	missense	0	NM_001080495	TNRC18	5346423	5463177	-	GGG	AGG	Gly	Arg	p.G2583R	2968	e27	30	0	0	SNV
SJMPAL017981	SJMPAL017981_D3	7	5352775	C	T	5352775	305.77	32	19	13	60	0.41	38	2	2|2	NA	0	missense	0	NM_001080495	TNRC18	5346423	5463177	-	GGG	AGG	Gly	Arg	p.G2583R	2968	e27	30	0	0	SNV
SJMPAL017981	SJMPAL017981_D4	7	5352775	C	T	5352775	271.77	22	11	11	60	0.50	38	2	2|2	NA	0	missense	0	NM_001080495	TNRC18	5346423	5463177	-	GGG	AGG	Gly	Arg	p.G2583R	2968	e27	30	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	8	38139063	A	T	38139063	727.77	74	40	34	59.68	0.46	86	0	0	rs201732365	1296.699951;1.298	missense	0	NM_023034	WHSC1L1	38132561	38239790	-	GAT	GAA	Asp	Glu	p.D1180E	1437	e20	24	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	8	38205182	A	ACTCAT	38205182	1249.73	93	69	20	59.93	0.22	124	1	NA	NA	0	frame_shift_ins	0	NM_023034	WHSC1L1	38132561	38239790	-	TCT	TCT	Ser	Ser	p.S170fs	1437	e2	24	0	0	INDEL
SJMPAL041117	SJMPAL041117_D3	8	38205182	A	ACTCAT	38205182	2261.73	78	39	33	59.67	0.42	124	1	NA	NA	0	frame_shift_ins	0	NM_023034	WHSC1L1	38132561	38239790	-	TCT	TCT	Ser	Ser	p.S170fs	1437	e2	24	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	8	89068407	G	T	89068407	385.77	60	40	20	60	0.33	108	0	0	NA	0	nonsense	0	NM_005941	MMP16	89049460	89339717	-	TCA	TAA	Ser	*	p.S441*	607	e8	10	0	0	SNV
SJMPAL017978	SJMPAL017978_D2	8	139209815	C	T	139209815	729.77	52	26	26	60	0.50	124	0	0	rs200240655	0	missense	0	NM_015912	FAM135B	139142266	139509065	-	CGT	CAT	Arg	His	p.R256H	1406	e8	20	0	0	SNV
SJMPAL017978	SJMPAL017978_D3	8	139209815	C	T	139209815	686.77	86	54	32	60	0.37	124	0	0	rs200240655	0	missense	0	NM_015912	FAM135B	139142266	139509065	-	CGT	CAT	Arg	His	p.R256H	1406	e8	20	0	0	SNV
SJMPAL017978	SJMPAL017978_D4	8	139209815	C	T	139209815	191.77	40	32	8	60	0.20	124	0	0	rs200240655	0	missense	0	NM_015912	FAM135B	139142266	139509065	-	CGT	CAT	Arg	His	p.R256H	1406	e8	20	0	0	SNV
SJMPAL012424	SJMPAL012424_D2	9	113228271	G	A	113228271	780.77	72	37	35	60	0.49	29	0	0	NA	0	missense	0	NM_153366	SVEP1	113127529	113342160	-	CTT	TTT	Leu	Phe	p.L1066F	3571	e18	48	0	0	SNV
SJMPAL012424	SJMPAL012424_D3	9	113228271	G	A	113228271	432.77	37	16	21	60	0.57	29	0	0	NA	0	missense	0	NM_153366	SVEP1	113127529	113342160	-	CTT	TTT	Leu	Phe	p.L1066F	3571	e18	48	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	9	137775154	G	A	137775154	253.77	134	118	16	60	0.12	27	0	0	rs376263285	0	missense	0	NM_004108	FCN2	137772658	137779366	+	CGT	CAT	Arg	His	p.R74H	313	e3	8	0	0	SNV
SJMPAL040036	SJMPAL040036_D3	9	137777162	C	T	137777162	1046.77	95	58	37	56.39	0.39	104	0	0	NA	0	missense	0	NM_004108	FCN2	137772658	137779366	+	CGG	TGG	Arg	Trp	p.R127W	313	e5	8	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	9	137777162	C	T	137777162	1852.77	114	48	66	54.74	0.58	104	0	0	NA	0	missense	0	NM_004108	FCN2	137772658	137779366	+	CGG	TGG	Arg	Trp	p.R127W	313	e5	8	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	9	137777162	C	T	137777162	1539.77	127	74	53	54.15	0.42	104	0	0	NA	0	missense	0	NM_004108	FCN2	137772658	137779366	+	CGG	TGG	Arg	Trp	p.R127W	313	e5	8	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	9	137777162	C	T	137777162	1555.77	155	99	56	56.49	0.36	104	0	0	NA	0	missense	0	NM_004108	FCN2	137772658	137779366	+	CGG	TGG	Arg	Trp	p.R127W	313	e5	8	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	10	89717672	C	T	89717672	2233.77	223	136	87	60	0.39	162	1	35	rs121909219	0	nonsense	0	NM_000314	PTEN	89623195	89728532	+	CGA	TGA	Arg	*	p.R233*	403	e7	9	220	Confirm(142)Report(78)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D3	10	89717672	C	T	89717672	2035.77	131	61	70	59.81	0.53	162	1	35	rs121909219	0	nonsense	0	NM_000314	PTEN	89623195	89728532	+	CGA	TGA	Arg	*	p.R233*	403	e7	9	220	Confirm(142)Report(78)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D4	10	89717672	C	T	89717672	1342.77	180	122	58	59.96	0.32	162	1	35	rs121909219	0	nonsense	0	NM_000314	PTEN	89623195	89728532	+	CGA	TGA	Arg	*	p.R233*	403	e7	9	220	Confirm(142)Report(78)Unknown(0)	SNV
SJMLL003311	SJMLL003311_D3	10	89717733	T	C	89717733	1885.77	167	96	71	59.81	0.43	142	2	41|41	NA	0	missense	0	NM_000314	PTEN	89623195	89728532	+	ATC	ACC	Ile	Thr	p.I253T	403	e7	9	0	0	SNV
SJMLL003311	SJMLL003311_D4	10	89717733	T	C	89717733	2142.77	151	71	79	59.91	0.52	142	2	41|41	NA	0	missense	0	NM_000314	PTEN	89623195	89728532	+	ATC	ACC	Ile	Thr	p.I253T	403	e7	9	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	11	34093497	AAGAATTAC	A	34093505	2187.73	99	74	23	60	0.23	49	0	NA	NA	0	frame_shift_del	0	NM_005898	CAPRIN1	34073230	34124157	+	AAA	AAA	Lys	Lys	p.K110fs	709	e4	19	0	0	INDEL
SJMPAL041122	SJMPAL041122_D2	11	47380444	G	GCATTGGGC	47380444	1665.73	33	16	16	60	0.48	66	0	NA	NA	0	frame_shift_ins	0	NM_001080547	SPI1	47376409	47400127	-	GGC	GGC	Gly	Gly	p.G149fs	271	e4	5	0	0	INDEL
SJMPAL041122	SJMPAL041122_D3	11	47380444	G	GCATTGGGC	47380444	1134.73	35	22	12	60.31	0.34	66	0	NA	NA	0	frame_shift_ins	0	NM_001080547	SPI1	47376409	47400127	-	GGC	GGC	Gly	Gly	p.G149fs	271	e4	5	0	0	INDEL
SJMPAL041122	SJMPAL041122_D4	11	47380444	G	GCATTGGGC	47380444	2132.73	52	30	21	60	0.40	66	0	NA	NA	0	frame_shift_ins	0	NM_001080547	SPI1	47376409	47400127	-	GGC	GGC	Gly	Gly	p.G149fs	271	e4	5	0	0	INDEL
SJMPAL040027	SJMPAL040027_D2	11	58477330	T	C	58477330	1060.77	87	47	40	60	0.46	109	0	0	NA	0	missense	0	NM_201648	GLYAT	58476230	58499447	-	TAC	TGC	Tyr	Cys	p.Y267C	296	e6	6	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	11	58477330	T	C	58477330	243.77	72	58	14	60	0.19	109	0	0	NA	0	missense	0	NM_201648	GLYAT	58476230	58499447	-	TAC	TGC	Tyr	Cys	p.Y267C	296	e6	6	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	11	58477330	T	C	58477330	1032.77	68	33	35	60	0.51	109	0	0	NA	0	missense	0	NM_201648	GLYAT	58476230	58499447	-	TAC	TGC	Tyr	Cys	p.Y267C	296	e6	6	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	11	58478210	G	T	58478210	204.77	101	86	15	60	0.15	34	0	0	NA	0	missense	0	NM_201648	GLYAT	58476230	58499447	-	GCT	GAT	Ala	Asp	p.A114D	296	e5	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	11	63487307	G	A	63487307	334.77	161	137	24	60	0.15	208	0	0	NA	0	missense	0	NM_001265589	RTN3	63448922	63527363	+	GAC	AAC	Asp	Asn	p.D445N	1032	e3	9	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	12	14019019	C	T	14019019	539.77	46	26	20	60	0.43	118	0	0	NA	0	missense	0	NM_000834	GRIN2B	13714410	14133022	-	GTG	ATG	Val	Met	p.V42M	1484	e2	13	0	0	SNV
SJMPAL011911	SJMPAL011911_D2	12	14019019	C	T	14019019	991.77	70	35	35	60	0.50	118	0	0	NA	0	missense	0	NM_000834	GRIN2B	13714410	14133022	-	GTG	ATG	Val	Met	p.V42M	1484	e2	13	0	0	SNV
SJMPAL046466	SJMPAL046466_D2	12	70933755	C	T	70933755	231.77	100	83	17	60	0.17	62	0	0	rs139546127	5007;1	missense	0	NM_001109754	PTPRB	70910632	71031220	-	CGA	CAA	Arg	Gln	p.R1881Q	2215	e24	34	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL046466	SJMPAL046466_D4	12	70933755	C	T	70933755	NA	74	67	7	NA	0.09	62	0	0	rs139546127	5007;1	missense	0	NM_001109754	PTPRB	70910632	71031220	-	CGA	CAA	Arg	Gln	p.R1881Q	2215	e24	34	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL017975	SJMPAL017975_D2	12	71016390	C	T	71016390	697.77	51	27	24	60	0.47	55	1	35	NA	0	missense	0	NM_001109754	PTPRB	70910632	71031220	-	AGA	AAA	Arg	Lys	p.R163K	2215	e3	34	0	0	SNV
SJMPAL017975	SJMPAL017975_D3	12	71016390	C	T	71016390	520.77	43	24	18	60	0.42	55	1	35	NA	0	missense	0	NM_001109754	PTPRB	70910632	71031220	-	AGA	AAA	Arg	Lys	p.R163K	2215	e3	34	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	12	115112544	G	A	115112544	808.77	70	38	32	60	0.46	103	0	0	NA	0	missense	0	NM_016569	TBX3	115108059	115121969	-	ACG	ATG	Thr	Met	p.T399M	743	e7	8	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	12	115112544	G	A	115112544	498.77	43	22	21	60	0.49	103	0	0	NA	0	missense	0	NM_016569	TBX3	115108059	115121969	-	ACG	ATG	Thr	Met	p.T399M	743	e7	8	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	12	115112544	G	A	115112544	124.77	29	22	7	60	0.24	103	0	0	NA	0	missense	0	NM_016569	TBX3	115108059	115121969	-	ACG	ATG	Thr	Met	p.T399M	743	e7	8	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	12	115112544	G	A	115112544	630.77	94	60	34	60	0.36	103	0	0	NA	0	missense	0	NM_016569	TBX3	115108059	115121969	-	ACG	ATG	Thr	Met	p.T399M	743	e7	8	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	15	62277075	G	T	62277075	505.77	39	21	18	60	0.46	20	0	0	NA	0	missense	0	NM_020821	VPS13C	62144590	62352664	-	CCA	ACA	Pro	Thr	p.P568T	3753	e19	85	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	15	62327195	T	C	62327195	33.77	86	77	8	60	0.09	91	1	0	NA	0	missense	0	NM_020821	VPS13C	62144590	62352664	-	ACC	GCC	Thr	Ala	p.T82A	3753	e4	85	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	15	62327195	T	C	62327195	311.77	47	35	12	60	0.26	91	1	0	NA	0	missense	0	NM_020821	VPS13C	62144590	62352664	-	ACC	GCC	Thr	Ala	p.T82A	3753	e4	85	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	16	67070635	G	GGAGACAGTT	67070635	4052.73	85	45	40	60	0.47	116	2	NA	NA	0	in-frame_ins	0	NM_022845	CBFB	67063050	67134958	+	GAC	GAC	Asp	Asp	p.D87ins	187	e3	6	0	0	INDEL
SJMPAL017975	SJMPAL017975_D3	16	67070635	G	GGAGACAGTT	67070635	4195.73	72	33	38	60.15	0.53	116	2	NA	NA	0	in-frame_ins	0	NM_022845	CBFB	67063050	67134958	+	GAC	GAC	Asp	Asp	p.D87ins	187	e3	6	0	0	INDEL
SJMPAL046469	SJMPAL046469_D1	16	67070641	G	GA	67070641	1018.73	103	58	34	60	0.33	146	0	NA	NA	0	frame_shift_ins	0	NM_022845	CBFB	67063050	67134958	+	GAA	GAA	Glu	Glu	p.E89fs	187	e3	6	0	0	INDEL
SJMPAL016343	SJMPAL016343_D2	17	29576138	G	A	29576138	1590.77	80	26	54	60	0.68	97	0	0	NA	0	splice	0	NM_001042492	NF1	29421945	29704695	+	CAG	0	Gln	0	p.Q1370sp	2839	e30+1	58	0	0	SNV
SJMPAL016343	SJMPAL016343_R1	17	29576138	G	A	29576138	1108.77	77	27	50	60	0.65	97	0	0	NA	0	splice	0	NM_001042492	NF1	29421945	29704695	+	CAG	0	Gln	0	p.Q1370sp	2839	e30+1	58	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	19	33792381	C	CCTT	33792381	7628.73	160	3	140	60.87	0.88	374	1	NA	NA	0	in-frame_ins	0	NM_001287424	CEBPA	33790840	33793470	-	GTG	GTG	Val	Val	p.V349ins	393	e1	1	78	Confirm(22)Report(56)Unknown(0)	INDEL
SJMPAL040027	SJMPAL040027_D3	19	33792381	C	CCTT	33792381	6710.73	135	2	121	60.34	0.90	374	1	NA	NA	0	in-frame_ins	0	NM_001287424	CEBPA	33790840	33793470	-	GTG	GTG	Val	Val	p.V349ins	393	e1	1	78	Confirm(22)Report(56)Unknown(0)	INDEL
SJMPAL040027	SJMPAL040027_D4	19	33792381	C	CCTT	33792381	3978.73	84	6	76	60.9	0.90	374	1	NA	NA	0	in-frame_ins	0	NM_001287424	CEBPA	33790840	33793470	-	GTG	GTG	Val	Val	p.V349ins	393	e1	1	78	Confirm(22)Report(56)Unknown(0)	INDEL
SJMPAL005001	SJMPAL005001_R4	19	33792449	C	T	33792449	756.77	39	13	26	60	0.67	34	0	0	NA	0	missense	0	NM_001287424	CEBPA	33790840	33793470	-	CGC	CAC	Arg	His	p.R326H	393	e1	1	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	38907758	GC	TT	38907759	375.77	78	55	23	60	0.29	125	0	0	NA	0	missense	0	NM_170604	RASGRP4	38899698	38916945	-	GGC	GAA	Gly	Glu	p.G296E	673	e8	17	0	0	MNV
SJMPAL043508	SJMPAL043508_R1	19	53761979	G	T	53761979	1154.77	93	54	39	60	0.42	35	0	0	NA	0	missense	0	NM_173856	VN1R2	53761545	53762855	+	AGG	AGT	Arg	Ser	p.R117S	395	e1	1	0	0	SNV
SJMPAL012426	SJMPAL012426_D2	19	53762788	G	A	53762788	NA	45	35	10	NA	0.22	4	0	0	rs199981144	0	missense	0	NM_173856	VN1R2	53761545	53762855	+	CGA	CAA	Arg	Gln	p.R387Q	395	e1	1	10	Confirm(8)Report(2)Unknown(0)	SNV
SJMPAL012426	SJMPAL012426_D3	19	53762788	G	A	53762788	NA	37	30	7	NA	0.19	4	0	0	rs199981144	0	missense	0	NM_173856	VN1R2	53761545	53762855	+	CGA	CAA	Arg	Gln	p.R387Q	395	e1	1	10	Confirm(8)Report(2)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	21	44524453	C	A	44524453	251.77	23	13	10	60	0.43	31	0	0	NA	0	missense	0	NM_006758	U2AF1	44513066	44527688	-	CGG	CTG	Arg	Leu	p.R35L	240	e2	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	21	44524453	C	A	44524453	184.77	15	8	7	60	0.47	31	0	0	NA	0	missense	0	NM_006758	U2AF1	44513066	44527688	-	CGG	CTG	Arg	Leu	p.R35L	240	e2	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040037	SJMPAL040037_D2	22	38891886	A	T	38891886	532.77	46	24	21	60	0.46	93	0	0	NA	0	missense	0	NM_001098504	DDX17	38879443	38902345	-	GAT	GAA	Asp	Glu	p.D265E	731	e6	13	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	22	38891886	A	T	38891886	504.77	52	31	21	60	0.40	93	0	0	NA	0	missense	0	NM_001098504	DDX17	38879443	38902345	-	GAT	GAA	Asp	Glu	p.D265E	731	e6	13	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	22	38891886	A	T	38891886	708.77	67	34	33	60	0.49	93	0	0	NA	0	missense	0	NM_001098504	DDX17	38879443	38902345	-	GAT	GAA	Asp	Glu	p.D265E	731	e6	13	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	22	38891886	A	T	38891886	54.77	64	58	6	60	0.09	93	0	0	NA	0	missense	0	NM_001098504	DDX17	38879443	38902345	-	GAT	GAA	Asp	Glu	p.D265E	731	e6	13	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	22	38895504	A	G	38895504	95.77	84	73	11	60	0.13	112	0	0	NA	0	missense	0	NM_001098504	DDX17	38879443	38902345	-	TAT	CAT	Tyr	His	p.Y147H	731	e3	13	0	0	SNV
SJMPAL017981	SJMPAL017981_D4	X	41204458	C	T	41204458	99.77	47	38	9	60	0.19	93	0	0	NA	0	missense	0	NM_001356	DDX3X	41192561	41209540	+	CGG	TGG	Arg	Trp	p.R351W	662	e11	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D2	X	41204458	C	T	41204458	NA	128	122	6	NA	0.05	93	0	0	NA	0	missense	0	NM_001356	DDX3X	41192561	41209540	+	CGG	TGG	Arg	Trp	p.R351W	662	e11	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D3	X	41204458	C	T	41204458	NA	98	89	9	NA	0.09	93	0	0	NA	0	missense	0	NM_001356	DDX3X	41192561	41209540	+	CGG	TGG	Arg	Trp	p.R351W	662	e11	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040039	SJMPAL040039_D2	X	41205655	G	A	41205655	2364.77	84	4	80	60	0.95	53	0	0	NA	0	missense	0	NM_001356	DDX3X	41192561	41209540	+	GCT	ACT	Ala	Thr	p.A497T	662	e13	17	0	0	SNV
SJMPAL040039	SJMPAL040039_D3	X	41205655	G	A	41205655	774.03	27	2	25	60	0.93	53	0	0	NA	0	missense	0	NM_001356	DDX3X	41192561	41209540	+	GCT	ACT	Ala	Thr	p.A497T	662	e13	17	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	X	123630954	C	G	123630954	369.77	104	83	21	59.87	0.20	132	0	0	NA	0	missense	0	NM_001163278	TENM1	123509756	124097666	-	GGC	CGC	Gly	Arg	p.G1203R	2732	e20	32	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	X	129147933	A	AC	129147933	270.25	10	1	9	62.13	0.90	26	0	NA	NA	0	frame_shift_ins	0	NM_021946	BCORL1	129139164	129192058	+	ACA	ACA	Thr	Thr	p.T395fs	1711	e3	12	0	0	INDEL
SJMPAL017975	SJMPAL017975_D3	X	129147933	A	AC	129147933	393.73	11	0	11	60	1.00	26	0	NA	NA	0	frame_shift_ins	0	NM_021946	BCORL1	129139164	129192058	+	ACA	ACA	Thr	Thr	p.T395fs	1711	e3	12	0	0	INDEL
SJMPAL011914	SJMPAL011914_D1	X	129162789	C	T	129162789	3134.77	110	5	105	60	0.95	140	0	0	NA	0	nonsense	0	NM_021946	BCORL1	129139164	129192058	+	CGA	TGA	Arg	*	p.R1420*	1711	e7	12	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	976918	G	A	976918	793.77	97	53	44	60	0.45	198	0	0	NA	0	missense	0	NM_198576	AGRN	955503	991499	+	CGG	CAG	Arg	Gln	p.R338Q	2045	e6	36	0	0	SNV
SJMPAL040031	SJMPAL040031_D2	1	1564543	G	C	1564543	152.77	14	4	10	60	0.71	16	1	41	NA	0	missense	0	NM_080875	MIB2	1550795	1565990	+	GAG	CAG	Glu	Gln	p.E860Q	1070	e17	20	0	0	SNV
SJMPAL040031	SJMPAL040031_D3	1	1564543	G	C	1564543	NA	14	9	5	NA	0.36	16	1	41	NA	0	missense	0	NM_080875	MIB2	1550795	1565990	+	GAG	CAG	Glu	Gln	p.E860Q	1070	e17	20	0	0	SNV
SJMPAL040031	SJMPAL040031_D4	1	1564543	G	C	1564543	NA	4	1	3	NA	0.75	16	1	41	NA	0	missense	0	NM_080875	MIB2	1550795	1565990	+	GAG	CAG	Glu	Gln	p.E860Q	1070	e17	20	0	0	SNV
SJMPAL040031	SJMPAL040031_D5	1	1564543	G	C	1564543	123.77	12	6	6	60	0.50	16	1	41	NA	0	missense	0	NM_080875	MIB2	1550795	1565990	+	GAG	CAG	Glu	Gln	p.E860Q	1070	e17	20	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	1	1737954	T	C	1737954	NA	82	78	4	NA	0.05	120	0	0	NA	0	missense	0	NM_002074	GNB1	1716724	1822556	-	GAT	GGT	Asp	Gly	p.D76G	340	e6	12	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL040025	SJMPAL040025_D2	1	6521592	G	A	6521592	488.77	32	17	15	60	0.47	37	0	0	NA	0	nonsense	0	NM_148965	TNFRSF25	6521214	6526255	-	CAG	TAG	Gln	*	p.Q395*	426	e10	10	0	0	SNV
SJMPAL040025	SJMPAL040025_D3	1	6521592	G	A	6521592	445.77	36	20	15	60	0.42	37	0	0	NA	0	nonsense	0	NM_148965	TNFRSF25	6521214	6526255	-	CAG	TAG	Gln	*	p.Q395*	426	e10	10	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	1	7309636	G	A	7309636	576.77	62	35	27	60	0.44	149	0	0	NA	0	missense	0	NM_015215	CAMTA1	6845384	7829766	+	GGG	AGG	Gly	Arg	p.G130R	1673	e5	23	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	1	7309636	G	A	7309636	882.77	77	42	35	60	0.45	149	0	0	NA	0	missense	0	NM_015215	CAMTA1	6845384	7829766	+	GGG	AGG	Gly	Arg	p.G130R	1673	e5	23	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	1	7309636	G	A	7309636	83.77	23	19	4	60	0.17	149	0	0	NA	0	missense	0	NM_015215	CAMTA1	6845384	7829766	+	GGG	AGG	Gly	Arg	p.G130R	1673	e5	23	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	1	7309636	G	A	7309636	632.77	97	70	27	60	0.28	149	0	0	NA	0	missense	0	NM_015215	CAMTA1	6845384	7829766	+	GGG	AGG	Gly	Arg	p.G130R	1673	e5	23	0	0	SNV
SJMPAL042795	SJMPAL042795_D2	1	9775907	G	A	9775907	1354.77	76	31	45	60	0.59	157	0	0	NA	0	missense	0	NM_005026	PIK3CD	9711790	9789172	+	GGC	GAC	Gly	Asp	p.G124D	1044	e5	24	0	0	SNV
SJMPAL042795	SJMPAL042795_D3	1	9775907	G	A	9775907	1431.77	117	66	51	60	0.44	157	0	0	NA	0	missense	0	NM_005026	PIK3CD	9711790	9789172	+	GGC	GAC	Gly	Asp	p.G124D	1044	e5	24	0	0	SNV
SJMPAL042795	SJMPAL042795_D4	1	9775907	G	A	9775907	1260.77	85	43	42	60	0.49	157	0	0	NA	0	missense	0	NM_005026	PIK3CD	9711790	9789172	+	GGC	GAC	Gly	Asp	p.G124D	1044	e5	24	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	15771154	C	T	15771154	59.77	117	104	13	60	0.11	180	0	0	NA	0	missense	0	NM_007272	CTRC	15764938	15773153	+	CAC	TAC	His	Tyr	p.H183Y	268	e6	8	0	0	SNV
SJMPAL012418	SJMPAL012418_D2	1	17085576	G	A	17085576	595.77	231	190	40	45.78	0.17	139	0	0	NA	0	missense	0	NM_001271733	MST1L	17081129	17090975	-	ACG	ATG	Thr	Met	p.T382M	689	e9	15	0	0	SNV
SJMPAL012418	SJMPAL012418_D3	1	17085576	G	A	17085576	116.77	214	192	21	46.15	0.10	139	0	0	NA	0	missense	0	NM_001271733	MST1L	17081129	17090975	-	ACG	ATG	Thr	Met	p.T382M	689	e9	15	0	0	SNV
SJMPAL012418	SJMPAL012418_D4	1	17085576	G	A	17085576	NA	197	190	7	NA	0.04	139	0	0	NA	0	missense	0	NM_001271733	MST1L	17081129	17090975	-	ACG	ATG	Thr	Met	p.T382M	689	e9	15	0	0	SNV
SJMPAL012419	SJMPAL012419_D2	1	26357015	C	T	26357015	587.77	54	33	20	60	0.37	82	0	0	rs375730801	0	missense	0	NM_004455	EXTL1	26348271	26362954	+	CGT	TGT	Arg	Cys	p.R344C	676	e4	11	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	1	26357015	C	T	26357015	1257.77	121	68	52	59.9	0.43	82	0	0	rs375730801	0	missense	0	NM_004455	EXTL1	26348271	26362954	+	CGT	TGT	Arg	Cys	p.R344C	676	e4	11	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	26584142	A	T	26584142	196.77	71	58	13	60	0.18	112	0	0	NA	0	missense	0	NM_022778	CEP85	26560644	26605529	+	ATC	TTC	Ile	Phe	p.I320F	762	e5	14	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	26584179	G	T	26584179	215.77	85	70	15	60	0.18	101	0	0	NA	0	missense	0	NM_022778	CEP85	26560644	26605529	+	AGT	ATT	Ser	Ile	p.S332I	762	e5	14	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	28209180	T	C	28209180	15.88	76	69	7	60	0.09	140	0	0	NA	0	missense	0	NM_001105556	THEMIS2	28199054	28213196	+	TTT	CTT	Phe	Leu	p.F449L	643	e4	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	28802731	A	G	28802731	52.77	75	66	9	60	0.12	127	0	0	NA	0	missense	0	NM_023923	PHACTR4	28764661	28826881	+	AAG	GAG	Lys	Glu	p.K522E	712	e7	13	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	34330157	A	T	34330157	69.77	37	31	6	59.85	0.16	70	0	0	NA	0	missense	0	NM_145205	HMGB4	34326076	34330392	+	CAG	CTG	Gln	Leu	p.Q122L	186	e2	2	0	0	SNV
SJMPAL042792	SJMPAL042792_D2	1	39788622	T	G	39788622	470.77	123	99	24	60	0.20	99	0	0	NA	0	nonsense	0	NM_012090	MACF1	39549839	39952810	+	TTA	TGA	Leu	*	p.L1398*	5430	e32	93	0	0	SNV
SJMPAL042792	SJMPAL042792_D3	1	39788622	T	G	39788622	365.77	91	72	19	60	0.21	99	0	0	NA	0	nonsense	0	NM_012090	MACF1	39549839	39952810	+	TTA	TGA	Leu	*	p.L1398*	5430	e32	93	0	0	SNV
SJMPAL042792	SJMPAL042792_D4	1	39788622	T	G	39788622	311.77	83	69	14	60	0.17	99	0	0	NA	0	nonsense	0	NM_012090	MACF1	39549839	39952810	+	TTA	TGA	Leu	*	p.L1398*	5430	e32	93	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	1	44475758	C	T	44475758	80.77	34	29	5	60	0.15	31	0	0	NA	0	missense	0	NM_201649	SLC6A9	44462155	44483012	-	ATG	ATA	Met	Ile	p.M139I	706	e4	14	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	45226107	A	T	45226107	18.82	68	62	6	60	0.09	128	0	0	NA	0	missense	0	NM_006845	KIF2C	45205490	45233438	+	CAG	CTG	Gln	Leu	p.Q508L	725	e15	21	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	1	51736843	A	G	51736843	984.77	96	58	38	60	0.40	67	0	0	NA	0	missense	0	NM_014372	RNF11	51701945	51739119	+	GAC	GGC	Asp	Gly	p.D105G	154	e3	3	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	1	51736843	A	G	51736843	130.77	31	24	7	60	0.23	67	0	0	NA	0	missense	0	NM_014372	RNF11	51701945	51739119	+	GAC	GGC	Asp	Gly	p.D105G	154	e3	3	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	1	51736843	A	G	51736843	944.77	82	44	38	60	0.46	67	0	0	NA	0	missense	0	NM_014372	RNF11	51701945	51739119	+	GAC	GGC	Asp	Gly	p.D105G	154	e3	3	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	52385646	G	A	52385646	104.77	43	35	8	60	0.19	62	0	0	rs201157918	1312.689941;1.314	missense	0	NM_002867	RAB3B	52373628	52456436	-	CGT	TGT	Arg	Cys	p.R205C	219	e5	5	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	1	57349302	C	T	57349302	1340.77	175	125	49	60	0.28	81	0	0	NA	0	missense	0	NM_000562	C8A	57320443	57383894	+	TCC	TTC	Ser	Phe	p.S268F	584	e6	11	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D3	1	57349302	C	T	57349302	1135.77	217	168	49	60	0.23	81	0	0	NA	0	missense	0	NM_000562	C8A	57320443	57383894	+	TCC	TTC	Ser	Phe	p.S268F	584	e6	11	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	1	85648463	A	G	85648463	955.77	95	55	40	60	0.42	144	0	0	NA	0	missense	0	NM_032184	SYDE2	85623356	85666728	-	CTT	CCT	Leu	Pro	p.L621P	1194	e3	7	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	1	86905999	C	T	86905999	369.77	32	16	16	59.29	0.50	22	0	0	rs572565439	5007;1	missense	0	NM_006536	CLCA2	86889769	86922240	+	CGT	TGT	Arg	Cys	p.R458C	943	e8	14	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	1	86905999	C	T	86905999	317.77	23	11	12	60	0.52	22	0	0	rs572565439	5007;1	missense	0	NM_006536	CLCA2	86889769	86922240	+	CGT	TGT	Arg	Cys	p.R458C	943	e8	14	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	1	94336341	G	C	94336341	60.77	79	70	8	60	0.10	55	0	0	NA	0	missense	0	NM_014597	DNTTIP2	94335014	94344762	-	ACC	AGC	Thr	Ser	p.T692S	756	e6	7	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	1	98187182	C	T	98187182	2264.77	203	118	83	60	0.41	28	0	0	NA	0	missense	0	NM_000110	DPYD	97543300	98386615	-	GGT	AGT	Gly	Ser	p.G123S	1025	e5	23	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	1	98187182	C	T	98187182	1006.77	123	72	50	60	0.41	28	0	0	NA	0	missense	0	NM_000110	DPYD	97543300	98386615	-	GGT	AGT	Gly	Ser	p.G123S	1025	e5	23	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	111144702	C	T	111144702	101.77	127	113	14	60	0.11	247	0	0	NA	0	missense	0	NM_001204269	KCNA2	111136202	111174096	-	GCG	ACG	Ala	Thr	p.A329T	356	e4	5	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	1	145585375	T	A	145585375	219.77	62	50	12	60	0.19	64	0	0	NA	0	missense	0	NM_006099	PIAS3	145575988	145586546	+	ATC	AAC	Ile	Asn	p.I547N	628	e14	14	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	151204225	C	T	151204225	181.77	103	88	15	58.51	0.15	154	0	0	NA	0	missense	0	NM_001135638	PIP5K1A	151171021	151222007	+	CGT	TGT	Arg	Cys	p.R106C	562	e5	16	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	1	152192622	C	T	152192622	1133.77	311	253	58	59.93	0.19	285	0	0	rs369964728	0	missense	0	NM_001009931	HRNR	152184552	152196672	-	GGC	AGC	Gly	Ser	p.G495S	2850	e3	3	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	1	152192622	C	T	152192622	3016.77	469	352	115	59.97	0.25	285	0	0	rs369964728	0	missense	0	NM_001009931	HRNR	152184552	152196672	-	GGC	AGC	Gly	Ser	p.G495S	2850	e3	3	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016342	SJMPAL016342_D3	1	153634937	C	T	153634937	511.77	248	208	39	60	0.16	272	0	0	NA	0	missense	0	NM_004515	ILF2	153634264	153643504	-	GAA	AAA	Glu	Lys	p.E370K	390	e14	14	0	0	SNV
SJMPAL016342	SJMPAL016342_D2	1	153634937	C	T	153634937	NA	284	277	7	NA	0.02	272	0	0	NA	0	missense	0	NM_004515	ILF2	153634264	153643504	-	GAA	AAA	Glu	Lys	p.E370K	390	e14	14	0	0	SNV
SJMPAL016342	SJMPAL016342_D4	1	153634937	C	T	153634937	NA	216	205	11	NA	0.05	272	0	0	NA	0	missense	0	NM_004515	ILF2	153634264	153643504	-	GAA	AAA	Glu	Lys	p.E370K	390	e14	14	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	1	154403070	T	C	154403070	1090.77	72	35	37	60	0.51	62	0	0	NA	0	missense	0	NM_000565	IL6R	154377669	154441926	+	TTG	TCG	Leu	Ser	p.L149S	468	e3	10	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	1	155041386	G	C	155041386	149.77	97	85	12	60	0.12	29	0	0	NA	0	missense	0	NM_005227	EFNA4	155036213	155042029	+	CGA	CCA	Arg	Pro	p.R176P	201	e4	4	0	0	SNV
SJMPAL012420	SJMPAL012420_D2	1	155823120	G	A	155823120	3035.77	238	132	106	60	0.45	92	2	0|82	NA	0	missense	0	NM_001282860	GON4L	155719449	155827086	-	ACC	ATC	Thr	Ile	p.T151I	2241	e2	32	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL012420	SJMPAL012420_D3	1	155823120	G	A	155823120	2922.77	205	107	98	60	0.48	92	2	0|82	NA	0	missense	0	NM_001282860	GON4L	155719449	155827086	-	ACC	ATC	Thr	Ile	p.T151I	2241	e2	32	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL043514	SJMPAL043514_D1	1	156843428	C	T	156843428	54.77	158	146	12	60	0.08	178	0	0	rs141483265	2573;1	missense	0	NM_002529	NTRK1	156830671	156851642	+	CCG	CTG	Pro	Leu	p.P285L	796	e8	17	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	1	157504667	G	A	157504667	NA	27	16	11	NA	0.41	4	0	0	NA	0	missense	0	NM_001195388	FCRL5	157483167	157522310	-	CCT	CTT	Pro	Leu	p.P473L	998	e8	17	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	1	157504667	G	A	157504667	NA	10	6	4	NA	0.40	4	0	0	NA	0	missense	0	NM_001195388	FCRL5	157483167	157522310	-	CCT	CTT	Pro	Leu	p.P473L	998	e8	17	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	1	159163680	G	A	159163680	706.77	59	34	25	60	0.42	55	0	0	NA	0	missense	0	NM_021189	CADM3	159141377	159172932	+	GAA	AAA	Glu	Lys	p.E215K	432	e6	10	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	1	159163680	G	A	159163680	1387.77	66	20	45	60	0.68	55	0	0	NA	0	missense	0	NM_021189	CADM3	159141377	159172932	+	GAA	AAA	Glu	Lys	p.E215K	432	e6	10	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	161326464	C	T	161326464	591.77	171	136	35	59.41	0.20	243	0	0	NA	0	intron-NS	0	NM_003001	SDHC	161284166	161334535	+	0	0	0	0	0	169	e4-3	6	0	0	SNV
SJMPAL040039	SJMPAL040039_D2	1	167032972	G	A	167032972	1447.77	127	70	57	60	0.45	91	0	0	NA	0	missense	0	NM_005814	GPA33	167022073	167059868	-	CCA	TCA	Pro	Ser	p.P140S	319	e4	7	0	0	SNV
SJMPAL040039	SJMPAL040039_D3	1	167032972	G	A	167032972	580.77	41	19	22	60	0.54	91	0	0	NA	0	missense	0	NM_005814	GPA33	167022073	167059868	-	CCA	TCA	Pro	Ser	p.P140S	319	e4	7	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	1	169660936	C	G	169660936	118.77	39	30	8	60	0.21	39	0	0	NA	0	missense	0	NM_000655	SELL	169659806	169680843	-	GAC	CAC	Asp	His	p.D383H	385	e9	9	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	1	170952568	G	T	170952568	962.77	57	24	33	60	0.58	60	0	0	NA	0	nonsense	0	NM_001163629	MROH9	170904612	171033906	+	GGA	TGA	Gly	*	p.G208*	861	e9	22	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	1	170952568	G	T	170952568	372.77	27	10	17	60	0.63	60	0	0	NA	0	nonsense	0	NM_001163629	MROH9	170904612	171033906	+	GGA	TGA	Gly	*	p.G208*	861	e9	22	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	1	171560969	G	A	171560969	587.77	59	36	23	60	0.39	43	0	0	NA	0	missense	0	NM_015172	PRRC2C	171454666	171562650	+	GAA	AAA	Glu	Lys	p.E2813K	2817	e34	34	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	1	177245448	G	T	177245448	1298.77	128	62	66	60	0.52	197	0	0	NA	0	missense	0	NM_021165	BRINP2	177140633	177251558	+	TGC	TTC	Cys	Phe	p.C297F	783	e6	8	0	0	SNV
SJMPAL011911	SJMPAL011911_D2	1	177245448	G	T	177245448	1576.77	130	59	71	60	0.55	197	0	0	NA	0	missense	0	NM_021165	BRINP2	177140633	177251558	+	TGC	TTC	Cys	Phe	p.C297F	783	e6	8	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	1	181767884	C	T	181767884	39.77	15	11	4	60	0.27	19	0	0	NA	0	missense	0	NM_001205293	CACNA1E	181452686	181775921	+	CGG	TGG	Arg	Trp	p.R2286W	2313	e48	48	14	Confirm(14)Report(0)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	1	181767884	C	T	181767884	381.77	23	10	13	60	0.57	19	0	0	NA	0	missense	0	NM_001205293	CACNA1E	181452686	181775921	+	CGG	TGG	Arg	Trp	p.R2286W	2313	e48	48	14	Confirm(14)Report(0)Unknown(0)	SNV
SJMPAL005001	SJMPAL005001_R4	1	182443534	G	C	182443534	244.77	209	187	20	60	0.10	60	0	0	NA	0	missense	0	NM_001137669	RGSL1	182419256	182529732	+	GAC	CAC	Asp	His	p.D430H	1076	e6	22	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	196646701	C	T	196646701	360.77	150	125	25	60	0.17	244	0	0	NA	0	missense	0	NM_000186	CFH	196621008	196716634	+	CGG	TGG	Arg	Trp	p.R175W	1231	e5	22	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040038	SJMPAL040038_D2	1	201022700	C	T	201022700	1779.77	129	62	67	60	0.52	74	0	0	NA	0	missense	0	NM_000069	CACNA1S	201008640	201081694	-	GCC	ACC	Ala	Thr	p.A1228T	1873	e30	44	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	1	205308365	C	A	205308365	153.77	90	76	14	60	0.16	33	0	0	NA	0	missense	0	NM_018203	KLHDC8A	205305193	205326128	-	CAG	CAT	Gln	His	p.Q238H	350	e4	6	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	1	206653224	G	A	206653224	176.77	71	61	10	60	0.14	58	0	0	NA	0	missense	0	NM_014002	IKBKE	206643586	206670223	+	GTC	ATC	Val	Ile	p.V399I	716	e11	22	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	1	206653224	G	A	206653224	503.77	60	41	18	60	0.30	58	0	0	NA	0	missense	0	NM_014002	IKBKE	206643586	206670223	+	GTC	ATC	Val	Ile	p.V399I	716	e11	22	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	1	207109160	G	A	207109160	424.77	21	8	13	60	0.62	12	1	39	NA	0	missense	0	NM_002644	PIGR	207101867	207119811	-	TCC	TTC	Ser	Phe	p.S350F	764	e5	11	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	1	207109160	G	A	207109160	441.77	27	13	14	60	0.52	12	1	39	NA	0	missense	0	NM_002644	PIGR	207101867	207119811	-	TCC	TTC	Ser	Phe	p.S350F	764	e5	11	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	207222928	A	C	207222928	249.77	118	100	18	60	0.15	148	0	0	NA	0	missense	0	NM_018566	YOD1	207217194	207224422	-	TTT	GTT	Phe	Val	p.F162V	348	e2	2	0	0	SNV
SJMLL003311	SJMLL003311_D3	1	216040396	G	A	216040396	1274.77	150	93	57	60	0.38	172	2	33|35	NA	0	missense	0	NM_206933	USH2A	215796236	216596738	-	GCG	GTG	Ala	Val	p.A2933V	5202	e44	72	16	Confirm(16)Report(0)Unknown(0)	SNV
SJMLL003311	SJMLL003311_D4	1	216040396	G	A	216040396	1447.77	141	84	57	60	0.40	172	2	33|35	NA	0	missense	0	NM_206933	USH2A	215796236	216596738	-	GCG	GTG	Ala	Val	p.A2933V	5202	e44	72	16	Confirm(16)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	1	220267730	G	A	220267730	141.77	90	76	13	60	0.14	127	0	0	NA	0	missense	0	NM_018060	IARS2	220267455	220321383	+	GGC	AGC	Gly	Ser	p.G58S	1012	e1	23	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	220320834	G	A	220320834	149.77	76	66	10	60	0.13	87	0	0	NA	0	splice	0	NM_018060	IARS2	220267455	220321383	+	GAA	0	Glu	0	p.E965sp	1012	e22-1	23	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	220320867	G	A	220320867	341.77	182	152	30	60	0.16	203	0	0	NA	0	missense	0	NM_018060	IARS2	220267455	220321383	+	GTA	ATA	Val	Ile	p.V977I	1012	e23	23	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	220320891	G	A	220320891	289.77	191	162	27	60	0.14	214	0	0	NA	0	missense	0	NM_018060	IARS2	220267455	220321383	+	GAA	AAA	Glu	Lys	p.E985K	1012	e23	23	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	1	221054640	G	A	221054640	442.77	153	128	24	60	0.16	224	0	0	NA	0	missense	0	NM_021958	HLX	221052743	221058400	+	GCT	ACT	Ala	Thr	p.A233T	488	e2	4	0	0	SNV
SJMPAL012426	SJMPAL012426_D2	1	226253376	C	T	226253376	101.77	38	32	6	47.44	0.16	14	0	0	NA	0	missense	0	NM_002107	H3F3A	226250408	226259703	+	CGT	TGT	Arg	Cys	p.R50C	136	e3	4	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL012426	SJMPAL012426_D3	1	226253376	C	T	226253376	264.77	40	29	11	51.48	0.28	14	0	0	NA	0	missense	0	NM_002107	H3F3A	226250408	226259703	+	CGT	TGT	Arg	Cys	p.R50C	136	e3	4	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL012426	SJMPAL012426_D4	1	226253376	C	T	226253376	270.77	19	10	9	50.47	0.47	14	0	0	NA	0	missense	0	NM_002107	H3F3A	226250408	226259703	+	CGT	TGT	Arg	Cys	p.R50C	136	e3	4	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL040036	SJMPAL040036_D3	1	228345982	G	A	228345982	203.77	22	13	9	60	0.41	8	0	0	NA	0	missense	0	NM_020435	GJC2	228337415	228347527	+	GAG	AAG	Glu	Lys	p.E175K	439	e2	2	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	1	228345982	G	A	228345982	192.77	17	9	8	60	0.47	8	0	0	NA	0	missense	0	NM_020435	GJC2	228337415	228347527	+	GAG	AAG	Glu	Lys	p.E175K	439	e2	2	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	1	228345982	G	A	228345982	325.77	37	24	13	60	0.35	8	0	0	NA	0	missense	0	NM_020435	GJC2	228337415	228347527	+	GAG	AAG	Glu	Lys	p.E175K	439	e2	2	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	1	228345982	G	A	228345982	533.77	41	20	21	60	0.51	8	0	0	NA	0	missense	0	NM_020435	GJC2	228337415	228347527	+	GAG	AAG	Glu	Lys	p.E175K	439	e2	2	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	1	228480237	G	T	228480237	304.77	17	5	12	60	0.71	27	0	0	NA	0	missense	0	NM_001271223	OBSCN	228395831	228566575	+	AGG	AGT	Arg	Ser	p.R3968S	8923	e45	116	0	0	SNV
SJMPAL017975	SJMPAL017975_D3	1	228480237	G	T	228480237	442.77	34	17	17	59.41	0.50	27	0	0	NA	0	missense	0	NM_001271223	OBSCN	228395831	228566575	+	AGG	AGT	Arg	Ser	p.R3968S	8923	e45	116	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	1	228582838	A	C	228582838	571.77	50	30	20	60	0.40	12	0	0	NA	0	missense	0	NM_145214	TRIM11	228581377	228594517	-	TTT	TTG	Phe	Leu	p.F325L	468	e6	6	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	1	235336016	ATTTCTTGAAGTT	A	235336028	981.73	54	39	8	60	0.15	62	0	NA	NA	0	in-frame_del	0	NM_001206794	ARID4B	235330210	235490802	-	AAA	AAA	Lys	Lys	p.K1239del	1312	e23	24	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	2	11053861	G	A	11053861	278.77	59	46	13	60	0.22	31	0	0	NA	0	missense	0	NM_002236	KCNF1	11052063	11054351	+	GGG	AGG	Gly	Arg	p.G437R	494	e1	1	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	2	16082313	A	AC	16082313	1034.73	108	53	42	60.5	0.39	98	0	NA	NA	0	frame_shift_ins	0	NM_005378	MYCN	16080560	16087129	+	ACC	ACC	Thr	Thr	p.T43fs	464	e2	3	4	Confirm(2)Report(2)Unknown(0)	INDEL
SJMPAL040028	SJMPAL040028_D3	2	16082313	A	AC	16082313	114.73	37	27	8	60.58	0.22	98	0	NA	NA	0	frame_shift_ins	0	NM_005378	MYCN	16080560	16087129	+	ACC	ACC	Thr	Thr	p.T43fs	464	e2	3	4	Confirm(2)Report(2)Unknown(0)	INDEL
SJMPAL040028	SJMPAL040028_D4	2	16082313	A	AC	16082313	649.73	98	53	29	60.33	0.30	98	0	NA	NA	0	frame_shift_ins	0	NM_005378	MYCN	16080560	16087129	+	ACC	ACC	Thr	Thr	p.T43fs	464	e2	3	4	Confirm(2)Report(2)Unknown(0)	INDEL
SJMPAL043773	SJMPAL043773_R1	2	21235358	C	T	21235358	379.77	54	38	16	60	0.30	36	0	0	NA	0	nonsense	0	NM_000384	APOB	21224301	21266945	-	TGG	TAG	Trp	*	p.W1461*	4563	e26	29	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	2	23785143	C	T	23785143	19.81	47	39	6	60	0.13	22	0	0	NA	0	missense	0	NM_052920	KLHL29	23608298	23931483	+	ACG	ATG	Thr	Met	p.T26M	875	e3	14	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	2	26686953	T	C	26686953	143.77	64	54	10	60	0.16	109	0	0	NA	0	missense	0	NM_194248	OTOF	26680071	26781566	-	GAG	GGG	Glu	Gly	p.E1661G	1997	e40	47	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	2	31152294	G	T	31152294	106.77	51	42	9	60	0.18	67	0	0	NA	0	missense	0	NM_001253826	GALNT14	31133331	31361592	-	GCC	GAC	Ala	Asp	p.A378D	557	e12	16	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	31410641	T	C	31410641	197.77	138	119	19	60	0.14	183	0	0	NA	0	missense	0	NM_001145122	CAPN14	31395922	31440411	-	ACC	GCC	Thr	Ala	p.T524A	684	e15	22	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	33412085	C	T	33412085	140.77	100	87	13	60	0.13	131	0	0	NA	0	missense	0	NM_206943	LTBP1	33172369	33624575	+	ACG	ATG	Thr	Met	p.T455M	1721	e6	34	0	0	SNV
SJMPAL040031	SJMPAL040031_D2	2	37295980	G	C	37295980	940.77	128	84	43	60	0.34	113	0	0	NA	0	missense	0	NM_019024	HEATR5B	37208144	37311488	-	CCT	GCT	Pro	Ala	p.P341A	2071	e8	36	0	0	SNV
SJMPAL040031	SJMPAL040031_D3	2	37295980	G	C	37295980	230.77	116	100	16	60	0.14	113	0	0	NA	0	missense	0	NM_019024	HEATR5B	37208144	37311488	-	CCT	GCT	Pro	Ala	p.P341A	2071	e8	36	0	0	SNV
SJMPAL040031	SJMPAL040031_D4	2	37295980	G	C	37295980	1676.77	106	49	57	60	0.54	113	0	0	NA	0	missense	0	NM_019024	HEATR5B	37208144	37311488	-	CCT	GCT	Pro	Ala	p.P341A	2071	e8	36	0	0	SNV
SJMPAL040031	SJMPAL040031_D5	2	37295980	G	C	37295980	1896.77	143	66	77	59.97	0.54	113	0	0	NA	0	missense	0	NM_019024	HEATR5B	37208144	37311488	-	CCT	GCT	Pro	Ala	p.P341A	2071	e8	36	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	38302359	G	A	38302359	138.77	26	20	6	60	0.23	42	0	0	NA	0	missense	0	NM_000104	CYP1B1	38294746	38303323	-	CCA	CTA	Pro	Leu	p.P58L	543	e2	3	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	61258904	A	T	61258904	295.77	189	165	24	60	0.13	292	1	2	NA	0	missense	0	NM_002618	PEX13	61244812	61279125	+	GAT	GTT	Asp	Val	p.D148V	403	e2	4	0	0	SNV
SJMPAL040030	SJMPAL040030_D4	2	74042531	A	T	74042531	38.77	68	61	7	60	0.10	71	0	0	NA	0	missense	0	NM_001080474	C2orf78	74011316	74044274	+	GAT	GTT	Asp	Val	p.D394V	922	e3	3	0	0	SNV
SJMPAL040030	SJMPAL040030_D2	2	74042531	A	T	74042531	NA	117	111	6	NA	0.05	71	0	0	NA	0	missense	0	NM_001080474	C2orf78	74011316	74044274	+	GAT	GTT	Asp	Val	p.D394V	922	e3	3	0	0	SNV
SJMPAL040030	SJMPAL040030_D5	2	74042531	A	T	74042531	NA	93	89	4	NA	0.04	71	0	0	NA	0	missense	0	NM_001080474	C2orf78	74011316	74044274	+	GAT	GTT	Asp	Val	p.D394V	922	e3	3	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	2	95847553	C	T	95847553	2546.77	186	97	89	60	0.48	23	0	0	rs200670285	0	missense	0	NM_001291605	ZNF2	95831162	95850064	+	TCG	TTG	Ser	Leu	p.S340L	439	e5	5	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	2	95847553	C	T	95847553	756.77	113	78	35	60	0.31	23	0	0	rs200670285	0	missense	0	NM_001291605	ZNF2	95831162	95850064	+	TCG	TTG	Ser	Leu	p.S340L	439	e5	5	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	2	97031744	G	T	97031744	669.77	60	34	26	60	0.43	56	0	0	NA	0	missense	0	NM_015341	NCAPH	97001479	97042833	+	GGA	GTA	Gly	Val	p.G610V	741	e14	18	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	2	97031744	G	T	97031744	924.77	86	49	36	60	0.42	56	0	0	NA	0	missense	0	NM_015341	NCAPH	97001479	97042833	+	GGA	GTA	Gly	Val	p.G610V	741	e14	18	0	0	SNV
SJMPAL017973	SJMPAL017973_D2	2	113074834	GAGAAA	G	113074839	704.73	57	44	12	60	0.21	71	0	NA	NA	0	frame_shift_del	0	NM_198581	ZC3H6	113033178	113097640	+	GAG	GAG	Glu	Glu	p.E301fs	1189	e7	12	0	0	INDEL
SJMPAL017973	SJMPAL017973_D3	2	113074834	GAGAAA	G	113074839	NA	79	76	3	NA	0.04	71	0	NA	NA	0	frame_shift_del	0	NM_198581	ZC3H6	113033178	113097640	+	GAG	GAG	Glu	Glu	p.E301fs	1189	e7	12	0	0	INDEL
SJMPAL041117	SJMPAL041117_D2	2	125204473	C	T	125204473	408.77	54	34	20	60	0.37	36	0	0	rs538625524	5007;1	missense	0	NM_130773	CNTNAP5	124782864	125672954	+	CGC	TGC	Arg	Cys	p.R293C	1306	e6	24	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	2	125204473	C	T	125204473	368.77	30	17	12	60	0.40	36	0	0	rs538625524	5007;1	missense	0	NM_130773	CNTNAP5	124782864	125672954	+	CGC	TGC	Arg	Cys	p.R293C	1306	e6	24	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	2	133075892	GGA	GTTCTC	133075894	1598.73	316	256	51	55.13	0.16	112	4	NA	NA	0	in-frame_ins	0	NM_001304449	ZNF806	133064717	133076320	+	GGG	GGG	Gly	Gly	p.G451ins	589	e4	4	0	0	INDEL
SJMPAL041119	SJMPAL041119_D3	2	133075892	GGA	GTTCTC	133075894	2208.73	378	301	70	55.17	0.19	112	4	NA	NA	0	in-frame_ins	0	NM_001304449	ZNF806	133064717	133076320	+	GGG	GGG	Gly	Gly	p.G451ins	589	e4	4	0	0	INDEL
SJMPAL043508	SJMPAL043508_R1	2	135223686	CACCATCTGTTATGA	CGCCGGCCAGG	135223700	1654.73	47	31	16	60	0.34	38	0	NA	NA	0	frame_shift_del	0	NM_030923	TMEM163	135213330	135476571	-	ATA	ATA	Ile	Ile	p.I220fs	289	e6	8	0	0	INDEL
SJMPAL043508	SJMPAL043508_R2	2	135223686	CACCATCTGTTATGA	CGCCGGCCAGG	135223700	1125.73	35	23	11	60	0.31	38	0	NA	NA	0	frame_shift_del	0	NM_030923	TMEM163	135213330	135476571	-	ATA	ATA	Ile	Ile	p.I220fs	289	e6	8	0	0	INDEL
SJMPAL041117	SJMPAL041117_D2	2	153529057	GCTT	G	153529060	629.73	78	57	16	60.14	0.21	114	0	NA	NA	0	in-frame_del	0	NM_017892	PRPF40A	153508107	153573975	-	GAA	GAA	Glu	Glu	p.E428del	930	e13	26	0	0	INDEL
SJMPAL041117	SJMPAL041117_D3	2	153529057	GCTT	G	153529060	894.73	52	27	20	60.83	0.38	114	0	NA	NA	0	in-frame_del	0	NM_017892	PRPF40A	153508107	153573975	-	GAA	GAA	Glu	Glu	p.E428del	930	e13	26	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	2	154996905	T	G	154996905	264.77	141	120	21	60	0.15	223	0	0	NA	0	missense	0	NM_001301627	GALNT13	154800907	155310489	+	ATT	ATG	Ile	Met	p.I66M	561	e2	12	0	0	SNV
SJMPAL041118	SJMPAL041118_D2	2	160303358	T	G	160303358	854.77	64	32	32	60	0.50	106	0	0	NA	0	missense	0	NM_013450	BAZ2B	160175490	160473112	-	AAA	CAA	Lys	Gln	p.K211Q	2168	e6	37	0	0	SNV
SJMPAL041118	SJMPAL041118_D3	2	160303358	T	G	160303358	1101.77	73	35	38	60	0.52	106	0	0	NA	0	missense	0	NM_013450	BAZ2B	160175490	160473112	-	AAA	CAA	Lys	Gln	p.K211Q	2168	e6	37	0	0	SNV
SJMPAL041118	SJMPAL041118_D4	2	160303358	T	G	160303358	293.77	68	56	12	60	0.18	106	0	0	NA	0	missense	0	NM_013450	BAZ2B	160175490	160473112	-	AAA	CAA	Lys	Gln	p.K211Q	2168	e6	37	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	2	168102991	G	A	168102991	873.77	75	43	32	60	0.43	73	0	0	NA	0	missense	0	NM_152381	XIRP2	167744997	168116261	+	GAA	AAA	Glu	Lys	p.E1697K	3549	e9	11	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	2	176972334	C	T	176972334	155.9	6	1	5	60	0.83	9	0	0	NA	0	missense	0	NM_021192	HOXD11	176972084	176974316	+	GCG	GTG	Ala	Val	p.A84V	338	e1	2	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	2	176972334	C	T	176972334	NA	12	8	4	NA	0.33	9	0	0	NA	0	missense	0	NM_021192	HOXD11	176972084	176974316	+	GCG	GTG	Ala	Val	p.A84V	338	e1	2	0	0	SNV
SJMPAL012426	SJMPAL012426_D2	2	198950571	T	C	198950571	2695.77	195	100	95	60	0.49	62	0	0	NA	0	missense	0	NM_006226	PLCL1	198669426	199014608	+	ATT	ACT	Ile	Thr	p.I777T	1095	e2	6	0	0	SNV
SJMPAL012426	SJMPAL012426_D3	2	198950571	T	C	198950571	2513.77	188	98	90	60	0.48	62	0	0	NA	0	missense	0	NM_006226	PLCL1	198669426	199014608	+	ATT	ACT	Ile	Thr	p.I777T	1095	e2	6	0	0	SNV
SJMPAL012426	SJMPAL012426_D4	2	198950571	T	C	198950571	1329.77	125	72	53	60	0.42	62	0	0	NA	0	missense	0	NM_006226	PLCL1	198669426	199014608	+	ATT	ACT	Ile	Thr	p.I777T	1095	e2	6	0	0	SNV
SJMPAL012426	SJMPAL012426_D5	2	198950571	T	C	198950571	NA	136	132	4	NA	0.03	62	0	0	NA	0	missense	0	NM_006226	PLCL1	198669426	199014608	+	ATT	ACT	Ile	Thr	p.I777T	1095	e2	6	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	2	203817322	G	A	203817322	432.77	185	153	32	60	0.17	217	0	0	NA	0	missense	0	NM_024744	CARF	203776941	203851208	+	CGT	CAT	Arg	His	p.R116H	725	e6	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL011911	SJMPAL011911_D2	2	203817322	G	A	203817322	1197.77	149	89	59	60	0.40	217	0	0	NA	0	missense	0	NM_024744	CARF	203776941	203851208	+	CGT	CAT	Arg	His	p.R116H	725	e6	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041118	SJMPAL041118_D2	2	210685099	C	T	210685099	223.77	64	52	12	60	0.19	77	0	0	NA	0	missense	0	NM_032504	UNC80	210636717	210864024	+	GCG	GTG	Ala	Val	p.A676V	3258	e13	64	0	0	SNV
SJMPAL041118	SJMPAL041118_D3	2	210685099	C	T	210685099	214.77	51	39	12	60	0.24	77	0	0	NA	0	missense	0	NM_032504	UNC80	210636717	210864024	+	GCG	GTG	Ala	Val	p.A676V	3258	e13	64	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	2	211455540	G	A	211455540	4362.77	432	269	162	60	0.38	396	0	0	rs148654695	5005;3	missense	0	NM_001122633	CPS1	211342406	211543831	+	CGC	CAC	Arg	His	p.R292H	1506	e10	39	8	Confirm(8)Report(0)Unknown(0)	SNV
SJMPAL046469	SJMPAL046469_D1	2	216262496	C	T	216262496	686.77	71	41	30	60	0.42	205	0	0	NA	0	missense	0	NM_212482	FN1	216225179	216300791	-	GGC	AGC	Gly	Ser	p.G1142S	2477	e22	46	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	219505404	T	C	219505404	251.77	106	92	14	60	0.13	191	0	0	NA	0	missense	0	NM_001105537	ZNF142	219502640	219524263	-	CAC	CGC	His	Arg	p.H1526R	1687	e9	10	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	2	220089511	G	C	220089511	57.77	130	119	11	60.08	0.08	36	0	0	NA	0	missense	0	NM_024085	ATG9A	220084102	220094410	-	CAC	CAG	His	Gln	p.H194Q	839	e7	15	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	2	220116415	A	G	220116415	67.77	60	52	8	60	0.13	19	0	0	NA	0	missense	0	NM_006000	TUBA4A	220114433	220118668	-	TAC	CAC	Tyr	His	p.Y83H	448	e3	4	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	2	220286086	C	T	220286086	1078.77	98	52	46	60	0.47	68	1	34	rs62636492	0	missense	0	NM_001927	DES	220283099	220291461	+	CGG	TGG	Arg	Trp	p.R350W	470	e6	9	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	2	220286086	C	T	220286086	985.77	76	35	40	60	0.53	68	1	34	rs62636492	0	missense	0	NM_001927	DES	220283099	220291461	+	CGG	TGG	Arg	Trp	p.R350W	470	e6	9	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	2	223386582	G	A	223386582	708.77	61	37	24	60	0.39	63	0	0	NA	0	missense	0	NM_152386	SGPP2	223289322	223423617	+	GAA	AAA	Glu	Lys	p.E159K	399	e3	5	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	2	223386582	G	A	223386582	478.77	59	39	20	60	0.34	63	0	0	NA	0	missense	0	NM_152386	SGPP2	223289322	223423617	+	GAA	AAA	Glu	Lys	p.E159K	399	e3	5	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	2	231860985	C	T	231860985	1123.77	81	40	39	65.87	0.48	82	0	0	rs200392226	5004;4	missense	0	NM_139073	SPATA3	231860839	231871999	+	CGC	TGC	Arg	Cys	p.R13C	192	e1	5	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040027	SJMPAL040027_D3	2	231860985	C	T	231860985	1046.77	82	45	37	65.56	0.45	82	0	0	rs200392226	5004;4	missense	0	NM_139073	SPATA3	231860839	231871999	+	CGC	TGC	Arg	Cys	p.R13C	192	e1	5	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040027	SJMPAL040027_D4	2	231860985	C	T	231860985	1123.77	77	41	36	65.26	0.47	82	0	0	rs200392226	5004;4	missense	0	NM_139073	SPATA3	231860839	231871999	+	CGC	TGC	Arg	Cys	p.R13C	192	e1	5	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL012422	SJMPAL012422_D2	2	233001297	A	ACCAGG	233001297	3845.73	168	105	55	60.13	0.33	126	0	NA	NA	0	frame_shift_ins	0	NM_152383	DIS3L2	232826293	233201908	+	CAC	CAC	His	His	p.H273fs	885	e8	21	0	0	INDEL
SJMPAL012422	SJMPAL012422_D3	2	233001297	A	ACCAGG	233001297	3882.73	142	84	54	60.08	0.38	126	0	NA	NA	0	frame_shift_ins	0	NM_152383	DIS3L2	232826293	233201908	+	CAC	CAC	His	His	p.H273fs	885	e8	21	0	0	INDEL
SJMPAL012422	SJMPAL012422_D4	2	233001297	A	ACCAGG	233001297	1989.73	71	43	28	60	0.39	126	0	NA	NA	0	frame_shift_ins	0	NM_152383	DIS3L2	232826293	233201908	+	CAC	CAC	His	His	p.H273fs	885	e8	21	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	2	233498625	C	T	233498625	59.77	34	28	6	60	0.18	42	0	0	NA	0	missense	0	NM_025202	EFHD1	233498207	233547491	+	CGG	TGG	Arg	Trp	p.R71W	239	e1	4	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	2	234681044	C	T	234681044	969.77	95	53	42	60	0.44	208	0	0	NA	0	missense	0	NM_019078	UGT1A5	234621638	234681945	+	CTC	TTC	Leu	Phe	p.L482F	534	e5	5	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	2	242757466	C	T	242757466	36.77	203	184	18	60	0.09	89	0	0	rs139467778	4411;1	missense	0	NM_001167599	NEU4	242752027	242758739	+	CGC	TGC	Arg	Cys	p.R196C	497	e4	4	0	0	SNV
SJMPAL017973	SJMPAL017973_D2	3	4853034	C	A	4853034	34.77	92	82	10	60	0.11	88	0	0	NA	0	missense	0	NM_001168272	ITPR1	4535032	4889524	+	GCA	GAA	Ala	Glu	p.A2438E	2743	e55	61	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	3	9868899	C	T	9868899	372.77	37	23	14	60	0.38	43	0	0	NA	0	missense	0	NM_001025930	TTLL3	9851644	9878040	+	CCC	TCC	Pro	Ser	p.P508S	915	e9	13	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	3	9868899	C	T	9868899	426.77	46	30	16	60	0.35	43	0	0	NA	0	missense	0	NM_001025930	TTLL3	9851644	9878040	+	CCC	TCC	Pro	Ser	p.P508S	915	e9	13	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	25668774	A	ACTAGCTGGGGC	25668774	1414.73	37	21	13	60	0.35	46	0	NA	NA	0	frame_shift_ins	0	NM_001068	TOP2B	25639396	25705863	-	AGT	AGT	Ser	Ser	p.S635fs	1621	e16	36	0	0	INDEL
SJMPAL012418	SJMPAL012418_D2	3	33156028	C	A	33156028	706.77	47	20	27	60	0.57	52	0	0	rs531119589	5007;1	missense	0	NM_006371	CRTAP	33155450	33189265	+	TTC	TTA	Phe	Leu	p.F153L	401	e1	7	0	0	SNV
SJMPAL012418	SJMPAL012418_D3	3	33156028	C	A	33156028	481.77	35	14	21	60	0.60	52	0	0	rs531119589	5007;1	missense	0	NM_006371	CRTAP	33155450	33189265	+	TTC	TTA	Phe	Leu	p.F153L	401	e1	7	0	0	SNV
SJMPAL012418	SJMPAL012418_D4	3	33156028	C	A	33156028	276.77	19	7	11	60	0.58	52	0	0	rs531119589	5007;1	missense	0	NM_006371	CRTAP	33155450	33189265	+	TTC	TTA	Phe	Leu	p.F153L	401	e1	7	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	3	37323698	C	A	37323698	71.77	105	94	11	60	0.10	105	0	0	NA	0	missense	0	NM_001172713	GOLGA4	37284682	37408370	+	CAG	AAG	Gln	Lys	p.Q160K	2243	e4	23	0	0	SNV
SJMPAL041122	SJMPAL041122_D2	3	40557529	G	T	40557529	2129.77	167	94	72	60	0.43	172	2	26|37	NA	0	missense	0	NM_175888	ZNF620	40547530	40559712	+	AGG	AGT	Arg	Ser	p.R148S	422	e5	5	0	0	SNV
SJMPAL041122	SJMPAL041122_D3	3	40557529	G	T	40557529	1097.77	104	62	42	60	0.40	172	2	26|37	NA	0	missense	0	NM_175888	ZNF620	40547530	40559712	+	AGG	AGT	Arg	Ser	p.R148S	422	e5	5	0	0	SNV
SJMPAL041122	SJMPAL041122_D4	3	40557529	G	T	40557529	1862.77	142	73	68	60	0.48	172	2	26|37	NA	0	missense	0	NM_175888	ZNF620	40547530	40559712	+	AGG	AGT	Arg	Ser	p.R148S	422	e5	5	0	0	SNV
SJMPAL043512	SJMPAL043512_D1	3	43073864	C	T	43073864	538.77	66	37	29	60	0.44	113	0	0	NA	0	missense	0	NM_001129908	FAM198A	43020759	43099207	+	CGT	TGT	Arg	Cys	p.R37C	575	e2	5	0	0	SNV
SJMPAL011912	SJMPAL011912_D2	3	49060380	C	T	49060380	639.77	70	40	28	60	0.40	107	0	0	NA	0	missense	0	NM_199069	NDUFAF3	49059074	49060926	+	CGG	TGG	Arg	Trp	p.R137W	184	e4	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	49397655	C	A	49397655	145.77	41	33	8	60	0.20	74	0	0	NA	0	missense	0	NM_001664	RHOA	49396579	49449526	-	TGC	TTC	Cys	Phe	p.C190F	193	e5	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	49775735	C	T	49775735	298.77	199	172	27	60	0.14	331	0	0	NA	0	missense	0	NM_001242829	IP6K1	49761728	49823627	-	CGC	CAC	Arg	His	p.R115H	441	e3	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	3	52521622	T	G	52521622	100.77	27	22	5	60	0.19	44	0	0	NA	0	missense	0	NM_007184	NISCH	52489524	52527088	+	ATC	AGC	Ile	Ser	p.I705S	1504	e16	21	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	52831921	T	C	52831921	144.77	48	38	10	60	0.21	71	0	0	NA	0	missense	0	NM_002217	ITIH3	52828784	52843025	+	CTC	CCC	Leu	Pro	p.L213P	890	e6	22	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	3	57569707	TTATATTCT	TTGGG	57569715	14.87	112	88	9	60	0.08	33	0	NA	NA	0	frame_shift_del	0	NM_001660	ARF4	57557090	57583215	-	TAT	TAT	Tyr	Tyr	p.Y58fs	180	e3	6	0	0	INDEL
SJMPAL043508	SJMPAL043508_R1	3	57569707	TTATATTCT	TTGGG	57569715	NA	107	102	5	NA	0.05	33	0	NA	NA	0	frame_shift_del	0	NM_001660	ARF4	57557090	57583215	-	TAT	TAT	Tyr	Tyr	p.Y58fs	180	e3	6	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	3	58260522	C	T	58260522	542.77	36	17	19	60	0.53	40	2	41|41	NA	0	missense	0	NM_020676	ABHD6	58223259	58280461	+	CGC	TGC	Arg	Cys	p.R221C	337	e6	9	0	0	SNV
SJMPAL046471	SJMPAL046471_D2	3	113327017	G	A	113327017	364.77	31	18	13	60	0.42	33	1	40	NA	0	missense	0	NM_017699	SIDT1	113251218	113348422	+	GAC	AAC	Asp	Asn	p.D519N	827	e16	25	0	0	SNV
SJMPAL046471	SJMPAL046471_D4	3	113327017	G	A	113327017	146.77	22	16	6	60	0.27	33	1	40	NA	0	missense	0	NM_017699	SIDT1	113251218	113348422	+	GAC	AAC	Asp	Asn	p.D519N	827	e16	25	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	3	114057977	C	T	114057977	454.77	27	12	15	60	0.56	24	1	32	rs372178865	0	missense	0	NM_001164342	ZBTB20	114033347	114102489	-	GCT	ACT	Ala	Thr	p.A701T	741	e5	5	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	3	114057977	C	T	114057977	451.77	29	14	15	60	0.52	24	1	32	rs372178865	0	missense	0	NM_001164342	ZBTB20	114033347	114102489	-	GCT	ACT	Ala	Thr	p.A701T	741	e5	5	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	3	121001128	G	A	121001128	770.77	68	38	30	60	0.44	129	0	0	rs201266367	0	missense	0	NM_014980	STXBP5L	120627050	121143608	+	CGT	CAT	Arg	His	p.R709H	1186	e20	28	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	3	121001128	G	A	121001128	518.77	56	34	22	60	0.39	129	0	0	rs201266367	0	missense	0	NM_014980	STXBP5L	120627050	121143608	+	CGT	CAT	Arg	His	p.R709H	1186	e20	28	0	0	SNV
SJMPAL016343	SJMPAL016343_D2	3	121980645	G	A	121980645	1840.77	217	139	78	60	0.36	143	2	0|76	NA	0	missense	0	NM_001178065	CASR	121903181	122005344	+	GTG	ATG	Val	Met	p.V255M	1088	e4	7	0	0	SNV
SJMPAL016343	SJMPAL016343_R1	3	121980645	G	A	121980645	902.77	126	80	46	60	0.37	143	2	0|76	NA	0	missense	0	NM_001178065	CASR	121903181	122005344	+	GTG	ATG	Val	Met	p.V255M	1088	e4	7	0	0	SNV
SJMPAL016343	SJMPAL016343_D3	3	121980645	G	A	121980645	NA	175	172	3	NA	0.02	143	2	0|76	NA	0	missense	0	NM_001178065	CASR	121903181	122005344	+	GTG	ATG	Val	Met	p.V255M	1088	e4	7	0	0	SNV
SJMPAL016343	SJMPAL016343_D4	3	121980645	G	A	121980645	NA	141	136	5	NA	0.04	143	2	0|76	NA	0	missense	0	NM_001178065	CASR	121903181	122005344	+	GTG	ATG	Val	Met	p.V255M	1088	e4	7	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	124951877	T	C	124951877	148.77	134	120	14	60	0.10	195	0	0	NA	0	missense	0	NM_021964	ZNF148	124944513	125094198	-	ACT	GCT	Thr	Ala	p.T565A	794	e9	9	0	0	SNV
SJMPAL042794	SJMPAL042794_D2	3	128202762	C	A	128202762	906.77	70	34	36	60	0.51	81	1	36	NA	0	missense	0	NM_001145661	GATA2	128198265	128207373	-	GGC	TGC	Gly	Cys	p.G320C	480	e5	7	0	0	SNV
SJMPAL042794	SJMPAL042794_D3	3	128202762	C	A	128202762	769.77	54	27	27	60	0.50	81	1	36	NA	0	missense	0	NM_001145661	GATA2	128198265	128207373	-	GGC	TGC	Gly	Cys	p.G320C	480	e5	7	0	0	SNV
SJMPAL042794	SJMPAL042794_D4	3	128202762	C	A	128202762	1045.77	83	46	37	60	0.45	81	1	36	NA	0	missense	0	NM_001145661	GATA2	128198265	128207373	-	GGC	TGC	Gly	Cys	p.G320C	480	e5	7	0	0	SNV
SJMPAL016342	SJMPAL016342_R1	3	128356697	C	T	128356697	94.77	106	95	11	60	0.10	68	0	0	rs199634162	1322.680054;1.324	missense	0	NM_002950	RPN1	128338813	128369719	-	CGC	CAC	Arg	His	p.R193H	607	e3	10	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	133692525	A	G	133692525	196.77	57	45	12	60	0.21	86	0	0	NA	0	missense	0	NM_005630	SLCO2A1	133651540	133748920	-	TAC	CAC	Tyr	His	p.Y127H	643	e3	14	0	0	SNV
SJMPAL012418	SJMPAL012418_D2	3	135870789	T	G	135870789	1991.77	124	59	65	60	0.52	86	2	0|73	NA	0	missense	0	NM_018133	MSL2	135867760	135914688	-	AGC	CGC	Ser	Arg	p.S312R	577	e2	2	0	0	SNV
SJMPAL012418	SJMPAL012418_D3	3	135870789	T	G	135870789	1659.77	119	60	58	60	0.49	86	2	0|73	NA	0	missense	0	NM_018133	MSL2	135867760	135914688	-	AGC	CGC	Ser	Arg	p.S312R	577	e2	2	0	0	SNV
SJMPAL012418	SJMPAL012418_D4	3	135870789	T	G	135870789	1028.77	77	43	34	60	0.44	86	2	0|73	NA	0	missense	0	NM_018133	MSL2	135867760	135914688	-	AGC	CGC	Ser	Arg	p.S312R	577	e2	2	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	3	145912968	G	T	145912968	1449.77	104	45	59	60	0.57	96	1	41	NA	0	missense	0	NM_001128305	PLSCR4	145910124	145968651	-	TTC	TTA	Phe	Leu	p.F296L	329	e8	9	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	3	145912968	G	T	145912968	438.77	59	42	17	60	0.29	96	1	41	NA	0	missense	0	NM_001128305	PLSCR4	145910124	145968651	-	TTC	TTA	Phe	Leu	p.F296L	329	e8	9	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	3	145912968	G	T	145912968	792.77	74	43	31	60	0.42	96	1	41	NA	0	missense	0	NM_001128305	PLSCR4	145910124	145968651	-	TTC	TTA	Phe	Leu	p.F296L	329	e8	9	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	3	146309625	G	A	146309625	137.77	116	102	14	60	0.12	149	0	0	rs372370688	0	missense	0	NM_001085420	PLSCR5	146303625	146324003	-	ACG	ATG	Thr	Met	p.T166M	271	e5	8	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D3	3	146309625	G	A	146309625	NA	162	157	5	NA	0.03	149	0	0	rs372370688	0	missense	0	NM_001085420	PLSCR5	146303625	146324003	-	ACG	ATG	Thr	Met	p.T166M	271	e5	8	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D4	3	146309625	G	A	146309625	NA	134	127	7	NA	0.05	149	0	0	rs372370688	0	missense	0	NM_001085420	PLSCR5	146303625	146324003	-	ACG	ATG	Thr	Met	p.T166M	271	e5	8	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	3	148930316	A	G	148930316	10.2	101	92	9	60	0.09	119	0	0	NA	0	missense	0	NM_000096	CP	148890290	148939832	-	TAT	CAT	Tyr	His	p.Y106H	1065	e2	19	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	3	150128763	C	CAGCCCCCCA	150128763	1701.73	83	64	17	60	0.20	77	0	NA	NA	0	in-frame_ins	0	NM_014779	TSC22D2	150126122	150177905	+	AGC	AGC	Ser	Ser	p.S542ins	780	e1	4	0	0	INDEL
SJMPAL041117	SJMPAL041117_D3	3	150128763	C	CAGCCCCCCA	150128763	2308.73	82	55	23	60	0.28	77	0	NA	NA	0	in-frame_ins	0	NM_014779	TSC22D2	150126122	150177905	+	AGC	AGC	Ser	Ser	p.S542ins	780	e1	4	0	0	INDEL
SJMPAL043508	SJMPAL043508_R1	3	150661688	G	A	150661688	2775.77	176	74	101	60	0.57	33	0	0	rs372840692	0	missense	0	NM_001256819	CLRN1	150644354	150690786	-	ACG	ATG	Thr	Met	p.T115M	185	e2	4	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	3	150661688	G	A	150661688	742.77	127	91	35	60	0.28	33	0	0	rs372840692	0	missense	0	NM_001256819	CLRN1	150644354	150690786	-	ACG	ATG	Thr	Met	p.T115M	185	e2	4	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	175293963	CA	C	175293964	291.73	64	48	13	60	0.20	70	0	NA	NA	0	frame_shift_del	0	NM_207015	NAALADL2	174577111	175523428	+	ATC	ATC	Ile	Ile	p.I596fs	795	e10	14	0	0	INDEL
SJMPAL012425	SJMPAL012425_D2	3	176769299	A	AG	176769299	156.75	6	1	5	60	0.83	14	0	NA	NA	0	frame_shift_ins	0	NM_024665	TBL1XR1	176738542	176915048	-	ACT	ACT	Thr	Thr	p.T140fs	514	e5	16	1	Confirm(1)Report(0)Unknown(0)	INDEL
SJMPAL012425	SJMPAL012425_D4	3	176769299	A	AG	176769299	315.7	11	1	9	60	0.82	14	0	NA	NA	0	frame_shift_ins	0	NM_024665	TBL1XR1	176738542	176915048	-	ACT	ACT	Thr	Thr	p.T140fs	514	e5	16	1	Confirm(1)Report(0)Unknown(0)	INDEL
SJMPAL004013	SJMPAL004013_D2	3	178543489	G	C	178543489	68.77	54	47	7	60	0.13	83	0	0	NA	0	missense	0	NM_181361	KCNMB2	178254086	178562217	+	TGC	TCC	Cys	Ser	p.C57S	235	e3	5	0	0	SNV
SJMPAL043512	SJMPAL043512_D1	3	183853196	C	T	183853196	722.77	74	35	39	60	0.53	229	0	0	NA	0	missense	0	NM_003907	EIF2B5	183852810	183863099	+	CCG	CTG	Pro	Leu	p.P8L	721	e1	16	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	3	184100183	G	GT	184100183	175.73	50	42	8	60	0.16	90	0	NA	NA	0	frame_shift_ins	0	NM_003741	CHRD	184097861	184107617	+	GGG	GGG	Gly	Gly	p.G236fs	955	e7	23	0	0	INDEL
SJMPAL040036	SJMPAL040036_D3	3	192973513	G	A	192973513	454.77	39	21	18	60	0.46	33	0	0	rs150318874	4548;2	missense	0	NM_020386	HRASLS	192958917	192988644	+	CGT	CAT	Arg	His	p.R130H	273	e2	4	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	3	192973513	G	A	192973513	745.77	67	35	32	60	0.48	33	0	0	rs150318874	4548;2	missense	0	NM_020386	HRASLS	192958917	192988644	+	CGT	CAT	Arg	His	p.R130H	273	e2	4	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	3	192973513	G	A	192973513	317.77	31	18	13	60	0.42	33	0	0	rs150318874	4548;2	missense	0	NM_020386	HRASLS	192958917	192988644	+	CGT	CAT	Arg	His	p.R130H	273	e2	4	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	3	192973513	G	A	192973513	736.77	86	55	31	60	0.36	33	0	0	rs150318874	4548;2	missense	0	NM_020386	HRASLS	192958917	192988644	+	CGT	CAT	Arg	His	p.R130H	273	e2	4	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL012419	SJMPAL012419_D2	4	941540	C	T	941540	NA	29	15	14	NA	0.48	3	0	0	rs537792563	5007;1	missense	0	NM_032326	TMEM175	926175	952443	+	CGG	TGG	Arg	Trp	p.R5W	504	e2	11	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	4	941540	C	T	941540	NA	40	27	13	NA	0.33	3	0	0	rs537792563	5007;1	missense	0	NM_032326	TMEM175	926175	952443	+	CGG	TGG	Arg	Trp	p.R5W	504	e2	11	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	4	1976591	A	G	1976591	113.77	42	32	10	60	0.24	22	0	0	NA	0	missense	0	NM_001042424	WHSC1	1873123	1983934	+	GAC	GGC	Asp	Gly	p.D1125G	1365	e19	22	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D2	4	1976665	A	G	1976665	835.77	130	84	45	60	0.35	125	0	0	NA	0	missense	0	NM_001042424	WHSC1	1873123	1983934	+	ACC	GCC	Thr	Ala	p.T1150A	1365	e19	22	18	Confirm(14)Report(4)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D3	4	1976665	A	G	1976665	1493.77	157	87	70	60.07	0.45	125	0	0	NA	0	missense	0	NM_001042424	WHSC1	1873123	1983934	+	ACC	GCC	Thr	Ala	p.T1150A	1365	e19	22	18	Confirm(14)Report(4)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D4	4	1976665	A	G	1976665	914.77	151	101	50	60	0.33	125	0	0	NA	0	missense	0	NM_001042424	WHSC1	1873123	1983934	+	ACC	GCC	Thr	Ala	p.T1150A	1365	e19	22	18	Confirm(14)Report(4)Unknown(0)	SNV
SJMPAL043773	SJMPAL043773_R1	4	2702232	A	T	2702232	153.77	28	22	6	60	0.21	53	1	38	NA	0	missense	0	NM_001256666	FAM193A	2627159	2734302	+	AAT	TAT	Asn	Tyr	p.N1154Y	1265	e17	20	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	8062750	G	A	8062750	76.77	82	73	9	60	0.11	109	0	0	NA	0	missense	0	NM_001130083	ABLIM2	7967037	8160559	-	GCG	GTG	Ala	Val	p.A236V	645	e7	21	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	8368803	T	C	8368803	26.78	68	61	6	60	0.09	78	0	0	NA	0	missense	0	NM_003501	ACOX3	8368009	8442452	-	TAC	TGC	Tyr	Cys	p.Y663C	700	e18	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	11401021	C	T	11401021	111.77	19	14	5	60	0.26	47	0	0	NA	0	nonsense	0	NM_005114	HS3ST1	11399988	11430537	-	TGG	TGA	Trp	*	p.W203*	307	e2	2	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	13601793	C	A	13601793	174.77	70	58	12	60	0.17	131	0	0	NA	0	missense	0	NM_148894	BOD1L1	13570366	13629328	-	GGC	GTC	Gly	Val	p.G2244V	3051	e10	26	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	13603156	C	T	13603156	196.77	71	60	11	60	0.15	106	0	0	NA	0	missense	0	NM_148894	BOD1L1	13570366	13629328	-	GCA	ACA	Ala	Thr	p.A1790T	3051	e10	26	0	0	SNV
SJMPAL041122	SJMPAL041122_D2	4	22437004	AT	A	22437005	2286.73	143	70	70	58.74	0.49	155	1	NA	NA	0	frame_shift_del	0	NM_145290	GPR125	22388997	22517677	-	ATG	ATG	Met	Met	p.M458fs	1321	e10	19	0	0	INDEL
SJMPAL041122	SJMPAL041122_D3	4	22437004	AT	A	22437005	837.73	64	36	27	58.01	0.42	155	1	NA	NA	0	frame_shift_del	0	NM_145290	GPR125	22388997	22517677	-	ATG	ATG	Met	Met	p.M458fs	1321	e10	19	0	0	INDEL
SJMPAL041122	SJMPAL041122_D4	4	22437004	AT	A	22437005	1318.73	112	69	43	58.11	0.38	155	1	NA	NA	0	frame_shift_del	0	NM_145290	GPR125	22388997	22517677	-	ATG	ATG	Met	Met	p.M458fs	1321	e10	19	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	4	40123258	T	C	40123258	332.77	101	81	20	60	0.20	181	0	0	NA	0	missense	0	NM_018177	N4BP2	40058524	40159872	+	GTG	GCG	Val	Ala	p.V1176A	1770	e9	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	46737063	G	C	46737063	528.77	53	30	23	60	0.43	116	0	0	NA	0	missense	0	NM_130902	COX7B2	46736847	46911252	-	TTC	TTG	Phe	Leu	p.F49L	81	e3	3	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	56342151	C	G	56342151	736.77	132	97	35	60	0.27	194	0	0	NA	0	missense	0	NM_001267843	CLOCK	56294068	56412099	-	GAG	GAC	Glu	Asp	p.E109D	846	e8	24	0	0	SNV
SJMPAL017973	SJMPAL017973_D2	4	66197758	G	A	66197758	468.77	86	60	26	60	0.30	101	0	0	NA	0	missense	0	NM_001281765	EPHA5	66185281	66536213	-	CGG	TGG	Arg	Trp	p.R982W	1038	e17	18	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL017973	SJMPAL017973_D3	4	66197758	G	A	66197758	23.79	90	83	7	60	0.08	101	0	0	NA	0	missense	0	NM_001281765	EPHA5	66185281	66536213	-	CGG	TGG	Arg	Trp	p.R982W	1038	e17	18	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D2	4	72629576	G	T	72629576	876.77	82	46	36	60	0.44	84	0	0	NA	0	missense	0	NM_001204307	GC	72607411	72669758	-	TCT	TAT	Ser	Tyr	p.S203Y	493	e6	14	0	0	SNV
SJMPAL012418	SJMPAL012418_D3	4	72629576	G	T	72629576	630.77	96	65	31	60	0.32	84	0	0	NA	0	missense	0	NM_001204307	GC	72607411	72669758	-	TCT	TAT	Ser	Tyr	p.S203Y	493	e6	14	0	0	SNV
SJMPAL012418	SJMPAL012418_D4	4	72629576	G	T	72629576	427.77	29	15	14	60	0.48	84	0	0	NA	0	missense	0	NM_001204307	GC	72607411	72669758	-	TCT	TAT	Ser	Tyr	p.S203Y	493	e6	14	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	4	85642609	TCTC	T	85642612	825.73	96	72	20	60	0.21	117	0	NA	NA	0	in-frame_del	0	NM_014991	WDFY3	85590693	85887544	-	GAG	GAG	Glu	Glu	p.E2519del	3526	e47	68	0	0	INDEL
SJMPAL041117	SJMPAL041117_D3	4	85642609	TCTC	T	85642612	790.73	91	63	20	60.24	0.22	117	0	NA	NA	0	in-frame_del	0	NM_014991	WDFY3	85590693	85887544	-	GAG	GAG	Glu	Glu	p.E2519del	3526	e47	68	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	4	89415446	T	A	89415446	78.77	83	73	10	60	0.12	106	0	0	NA	0	nonsense	0	NM_016323	HERC5	89378268	89427319	+	TTG	TAG	Leu	*	p.L803*	1024	e18	23	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	90743419	A	G	90743419	367.77	130	107	23	60	0.18	218	0	0	NA	0	missense	0	NM_001146054	SNCA	90645250	90758127	-	GTC	GCC	Val	Ala	p.V95A	140	e4	6	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	4	101947138	G	T	101947138	452.77	64	38	26	60	0.41	71	0	0	NA	0	missense	0	NM_000944	PPP3CA	101944587	102268628	-	CCG	ACG	Pro	Thr	p.P484T	521	e14	14	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	4	101947138	G	T	101947138	323.77	53	34	19	60	0.36	71	0	0	NA	0	missense	0	NM_000944	PPP3CA	101944587	102268628	-	CCG	ACG	Pro	Thr	p.P484T	521	e14	14	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	4	101947138	G	T	101947138	392.77	43	23	20	60	0.47	71	0	0	NA	0	missense	0	NM_000944	PPP3CA	101944587	102268628	-	CCG	ACG	Pro	Thr	p.P484T	521	e14	14	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	4	106833349	C	G	106833349	34.77	181	169	12	60	0.07	42	0	0	NA	0	missense	0	NM_001184690	NPNT	106816597	106892828	+	TTC	TTG	Phe	Leu	p.F59L	582	e3	13	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	4	119951258	C	T	119951258	634.77	76	49	27	60	0.36	66	1	32	NA	0	missense	0	NM_133477	SYNPO2	119809996	119982402	+	TCA	TTA	Ser	Leu	p.S443L	1261	e4	5	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL012425	SJMPAL012425_D4	4	119951258	C	T	119951258	727.77	54	32	22	60	0.41	66	1	32	NA	0	missense	0	NM_133477	SYNPO2	119809996	119982402	+	TCA	TTA	Ser	Leu	p.S443L	1261	e4	5	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL040036	SJMPAL040036_D3	4	122068296	G	A	122068296	287.77	43	32	11	60	0.26	39	0	0	NA	0	nonsense	0	NM_001244764	TNIP3	122052564	122148621	-	CGA	TGA	Arg	*	p.R292*	376	e10	13	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040036	SJMPAL040036_D4	4	122068296	G	A	122068296	465.77	40	21	19	60	0.48	39	0	0	NA	0	nonsense	0	NM_001244764	TNIP3	122052564	122148621	-	CGA	TGA	Arg	*	p.R292*	376	e10	13	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040036	SJMPAL040036_D5	4	122068296	G	A	122068296	180.77	14	8	6	60	0.43	39	0	0	NA	0	nonsense	0	NM_001244764	TNIP3	122052564	122148621	-	CGA	TGA	Arg	*	p.R292*	376	e10	13	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016343	SJMPAL016343_D2	4	143130125	T	TC	143130125	1207.73	81	45	35	60	0.43	121	0	NA	NA	0	frame_shift_ins	0	NM_003866	INPP4B	142949182	143767604	-	CGA	CGA	Arg	Arg	p.R297fs	924	e14	27	0	0	INDEL
SJMPAL016343	SJMPAL016343_R1	4	143130125	T	TC	143130125	2674.73	175	98	77	60.06	0.44	121	0	NA	NA	0	frame_shift_ins	0	NM_003866	INPP4B	142949182	143767604	-	CGA	CGA	Arg	Arg	p.R297fs	924	e14	27	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	4	144620967	C	T	144620967	51.77	19	16	3	60	0.16	33	0	0	NA	0	missense	0	NM_001168235	FREM3	144498561	144621828	-	GAG	AAG	Glu	Lys	p.E288K	2139	e1	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041120	SJMPAL041120_D5	4	151153522	C	T	151153522	319.77	83	68	15	60	0.18	120	0	0	NA	0	missense	0	NM_001040261	DCLK2	150999426	151178608	+	CGC	TGC	Arg	Cys	p.R462C	783	e10	17	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	170641076	A	T	170641076	135.77	38	29	9	60	0.24	47	0	0	NA	0	missense	0	NM_173872	CLCN3	170541672	170644338	+	AAC	TAC	Asn	Tyr	p.N821Y	866	e14	14	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	4	170913443	C	T	170913443	287.77	31	21	10	60	0.32	7	0	0	NA	0	missense	0	NM_021647	MFAP3L	170907748	170947581	-	GAC	AAC	Asp	Asn	p.D106N	409	e3	3	0	0	SNV
SJMPAL043512	SJMPAL043512_D1	4	177098222	C	T	177098222	779.77	124	84	40	60	0.32	299	0	0	rs145946017	4311;1	missense	0	NM_170710	WDR17	176986985	177103979	+	CGT	TGT	Arg	Cys	p.R1194C	1322	e29	31	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	187158064	C	T	187158064	469.77	195	163	32	60	0.16	291	0	0	NA	0	missense	0	NM_000892	KLKB1	187148672	187179625	+	GCC	GTC	Ala	Val	p.A153V	638	e5	15	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	4	187539939	A	G	187539939	92.77	56	46	10	60	0.18	108	0	0	NA	0	missense	0	NM_005245	FAT1	187508937	187644987	-	TAC	CAC	Tyr	His	p.Y2601H	4588	e10	27	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	5	17275704	G	A	17275704	47.77	21	17	4	60	0.19	34	0	0	NA	0	missense	0	NM_001271606	BASP1	17216932	17276954	+	GCG	ACG	Ala	Thr	p.A127T	227	e2	2	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	5	24511615	G	A	24511615	230.77	33	23	10	60	0.30	43	0	0	NA	0	missense	0	NM_006727	CDH10	24487209	24645085	-	CAT	TAT	His	Tyr	p.H275Y	788	e6	12	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D2	5	41159242	G	A	41159242	817.77	143	111	32	60	0.22	185	0	0	NA	0	missense	0	NM_000065	C6	41142248	41213695	-	CGC	TGC	Arg	Cys	p.R600C	934	e12	18	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	5	41159242	G	A	41159242	1618.77	160	104	56	60	0.35	185	0	0	NA	0	missense	0	NM_000065	C6	41142248	41213695	-	CGC	TGC	Arg	Cys	p.R600C	934	e12	18	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D3	5	52355755	G	A	52355755	26.78	313	288	24	60	0.08	387	0	0	NA	0	missense	0	NM_002203	ITGA2	52285156	52390609	+	GTC	ATC	Val	Ile	p.V409I	1181	e11	30	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	5	52355755	G	A	52355755	NA	271	258	13	NA	0.05	387	0	0	NA	0	missense	0	NM_002203	ITGA2	52285156	52390609	+	GTC	ATC	Val	Ile	p.V409I	1181	e11	30	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	5	66459740	C	T	66459740	1495.77	121	65	55	60	0.45	129	1	41	NA	0	missense	0	NM_001164664	MAST4	65892176	66465423	+	CCG	CTG	Pro	Leu	p.P1578L	2623	e29	29	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	5	79372769	G	A	79372769	232.77	40	28	12	60	0.30	61	0	0	rs376939207	0	missense	0	NM_003248	THBS4	79331170	79379107	+	GAG	AAG	Glu	Lys	p.E662K	961	e16	22	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL041117	SJMPAL041117_D3	5	79372769	G	A	79372769	284.77	41	30	11	60	0.27	61	0	0	rs376939207	0	missense	0	NM_003248	THBS4	79331170	79379107	+	GAG	AAG	Glu	Lys	p.E662K	961	e16	22	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL046470	SJMPAL046470_D2	5	88018546	C	T	88018546	1605.77	144	77	67	59.91	0.47	116	0	0	NA	0	missense	0	NM_001193347	MEF2C	88014058	88199922	-	GGG	AGG	Gly	Arg	p.G443R	483	e12	12	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	5	88018546	C	T	88018546	1090.77	100	53	47	60	0.47	116	0	0	NA	0	missense	0	NM_001193347	MEF2C	88014058	88199922	-	GGG	AGG	Gly	Arg	p.G443R	483	e12	12	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	5	90086907	T	C	90086907	240.77	90	75	15	60	0.17	143	0	0	NA	0	missense	0	NM_032119	GPR98	89854617	90460033	+	GTT	GCT	Val	Ala	p.V4754A	6306	e70	90	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	5	93775786	TCAAC	GTCGG	93775790	42.77	46	38	8	60	0.17	104	0	0	NA	0	missense	0	NM_001145678	KIAA0825	93486556	93954309	-	AAA	CAA	Lys	Gln	p.Q798_K800delinsHRQ	1275	e14	21	0	0	MNV
SJMPAL041117	SJMPAL041117_D3	5	93775786	TCAAC	GTCGG	93775790	231.77	41	32	9	60	0.22	104	0	0	NA	0	missense	0	NM_001145678	KIAA0825	93486556	93954309	-	AAA	CAA	Lys	Gln	p.Q798_K800delinsHRQ	1275	e14	21	0	0	MNV
SJMPAL040028	SJMPAL040028_D2	5	123983870	C	T	123983870	1045.77	84	47	37	60	0.44	104	1	39	rs200298192	5007;1	missense	0	NM_020747	ZNF608	123972610	124080805	-	CGG	CAG	Arg	Gln	p.R736Q	1512	e4	9	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	5	123983870	C	T	123983870	412.77	33	17	16	60	0.48	104	1	39	rs200298192	5007;1	missense	0	NM_020747	ZNF608	123972610	124080805	-	CGG	CAG	Arg	Gln	p.R736Q	1512	e4	9	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	5	123983870	C	T	123983870	1110.77	85	45	40	60	0.47	104	1	39	rs200298192	5007;1	missense	0	NM_020747	ZNF608	123972610	124080805	-	CGG	CAG	Arg	Gln	p.R736Q	1512	e4	9	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	5	133473798	G	GA	133473798	545.73	63	44	19	60	0.30	33	0	NA	NA	0	frame_shift_ins	0	NM_003202	TCF7	133450402	133483920	+	GAA	GAA	Glu	Glu	p.E164fs	384	e4	10	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	5	137763702	C	CT	137763702	83.73	95	85	10	60	0.11	97	0	NA	NA	0	frame_shift_ins	0	NM_016604	KDM3B	137688285	137772716	+	CAC	CAC	His	His	p.H1560fs	1761	e20	24	0	0	INDEL
SJMPAL017976	SJMPAL017976_D3	5	139889642	C	CTGAGATACTG	139889642	275.73	32	28	3	60	0.09	64	0	NA	NA	0	frame_shift_ins	0	NM_020690	ANKHD1-EIF4EBP3	139781399	139929163	+	ACG	ACG	Thr	Thr	p.T1327fs	2617	e22	36	0	0	INDEL
SJMPAL017976	SJMPAL017976_D4	5	139889642	C	CTGAGATACTG	139889642	480.73	53	48	5	60	0.09	64	0	NA	NA	0	frame_shift_ins	0	NM_020690	ANKHD1-EIF4EBP3	139781399	139929163	+	ACG	ACG	Thr	Thr	p.T1327fs	2617	e22	36	0	0	INDEL
SJMPAL041117	SJMPAL041117_D2	5	140166327	G	A	140166327	328.77	66	52	14	60	0.21	104	0	0	NA	0	missense	0	NM_018900	PCDHA1	140165721	140391929	+	CGT	CAT	Arg	His	p.R151H	950	e1	4	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	5	140166327	G	A	140166327	722.77	125	94	31	59.87	0.25	104	0	0	NA	0	missense	0	NM_018900	PCDHA1	140165721	140391929	+	CGT	CAT	Arg	His	p.R151H	950	e1	4	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMPAL012419	SJMPAL012419_D2	5	140237320	G	A	140237320	3300.77	227	108	118	60	0.52	115	0	0	NA	0	missense	0	NM_018901	PCDHA10	140235468	140391929	+	GCG	ACG	Ala	Thr	p.A563T	948	e1	4	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	5	140237320	G	A	140237320	6409.77	469	254	215	59.97	0.46	115	0	0	NA	0	missense	0	NM_018901	PCDHA10	140235468	140391929	+	GCG	ACG	Ala	Thr	p.A563T	948	e1	4	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	5	140581301	C	T	140581301	508.77	198	158	40	47.13	0.20	33	0	0	NA	0	missense	0	NM_018931	PCDHB11	140579348	140582618	+	CGC	TGC	Arg	Cys	p.R652C	797	e1	1	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	5	140720666	G	A	140720666	283.77	143	123	20	57.77	0.14	180	0	0	NA	0	missense	0	NM_018915	PCDHGA2	140718327	140892546	+	GTG	ATG	Val	Met	p.V710M	932	e1	4	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	5	140720666	G	A	140720666	2303.77	194	113	80	58.56	0.41	180	0	0	NA	0	missense	0	NM_018915	PCDHGA2	140718327	140892546	+	GTG	ATG	Val	Met	p.V710M	932	e1	4	0	0	SNV
SJMPAL041118	SJMPAL041118_D2	5	140763190	T	A	140763190	192.77	126	110	16	60	0.13	114	0	0	NA	0	missense	0	NM_018920	PCDHGA7	140762306	140892546	+	TTC	ATC	Phe	Ile	p.F242I	932	e1	4	0	0	SNV
SJMPAL041118	SJMPAL041118_D3	5	140763190	T	A	140763190	325.77	108	89	19	60	0.18	114	0	0	NA	0	missense	0	NM_018920	PCDHGA7	140762306	140892546	+	TTC	ATC	Phe	Ile	p.F242I	932	e1	4	0	0	SNV
SJMPAL041118	SJMPAL041118_D4	5	140763190	T	A	140763190	NA	99	92	7	NA	0.07	114	0	0	NA	0	missense	0	NM_018920	PCDHGA7	140762306	140892546	+	TTC	ATC	Phe	Ile	p.F242I	932	e1	4	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	5	148392202	G	A	148392202	1001.77	208	158	49	60	0.24	313	1	2	rs570067509	5007;1	missense	0	NM_024577	SH3TC2	148361713	148442737	-	GCG	GTG	Ala	Val	p.A1050V	1288	e13	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	5	148687042	C	T	148687042	1093.77	98	56	42	60	0.43	151	7	0|27|27|37|41|41|82	NA	0	nonsense	0	NM_152406	AFAP1L1	148651401	148721367	+	CGA	TGA	Arg	*	p.R205*	768	e7	19	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	5	148687042	C	T	148687042	1689.77	116	60	56	60	0.48	151	7	0|27|27|37|41|41|82	NA	0	nonsense	0	NM_152406	AFAP1L1	148651401	148721367	+	CGA	TGA	Arg	*	p.R205*	768	e7	19	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	5	149440490	T	C	149440490	73.77	80	70	10	60	0.13	101	0	0	NA	0	missense	0	NM_001288705	CSF1R	149432854	149466203	-	AAG	AGG	Lys	Arg	p.K635R	972	e13	21	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	5	149755783	T	C	149755783	175.77	163	143	20	60	0.12	251	0	0	NA	0	missense	0	NM_001135243	TCOF1	149737202	149779871	+	TCA	CCA	Ser	Pro	p.S678P	1488	e13	27	0	0	SNV
SJMPAL012422	SJMPAL012422_D2	5	154393721	C	A	154393721	4337.77	314	157	157	59.85	0.50	174	0	0	NA	0	missense	0	NM_001099293	KIF4B	154393260	154397685	+	GCA	GAA	Ala	Glu	p.A101E	1234	e1	1	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	5	154393721	C	A	154393721	2522.77	242	145	95	59.7	0.39	174	0	0	NA	0	missense	0	NM_001099293	KIF4B	154393260	154397685	+	GCA	GAA	Ala	Glu	p.A101E	1234	e1	1	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	5	154393721	C	A	154393721	1571.77	144	83	61	58.9	0.42	174	0	0	NA	0	missense	0	NM_001099293	KIF4B	154393260	154397685	+	GCA	GAA	Ala	Glu	p.A101E	1234	e1	1	0	0	SNV
SJMPAL040034	SJMPAL040034_D2	5	156381560	G	C	156381560	1754.77	195	120	75	60	0.38	13	0	0	NA	0	missense	0	NM_138379	TIMD4	156346293	156390266	-	ACT	AGT	Thr	Ser	p.T89S	378	e2	9	0	0	SNV
SJMPAL040034	SJMPAL040034_D3	5	156381560	G	C	156381560	2328.77	209	124	85	60.05	0.41	13	0	0	NA	0	missense	0	NM_138379	TIMD4	156346293	156390266	-	ACT	AGT	Thr	Ser	p.T89S	378	e2	9	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	5	160067601	T	G	160067601	249.77	20	8	12	60	0.60	31	0	0	NA	0	splice	0	NM_025153	ATP10B	159990127	160279219	-	GCA	0	Ala	0	p.A289sp	1461	e9-2	26	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	5	171299963	C	T	171299963	474.77	122	93	29	60	0.24	41	0	0	NA	0	missense	0	NM_012300	FBXW11	171288556	171433877	-	CGT	CAT	Arg	His	p.R397H	542	e9	13	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	5	171766167	G	A	171766167	264.77	216	189	27	60	0.13	283	0	0	NA	0	missense	0	NM_001017995	SH3PXD2B	171760503	171881527	-	CCT	TCT	Pro	Ser	p.P648S	911	e13	13	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	5	171766167	G	A	171766167	NA	177	171	6	NA	0.03	283	0	0	NA	0	missense	0	NM_001017995	SH3PXD2B	171760503	171881527	-	CCT	TCT	Pro	Ser	p.P648S	911	e13	13	0	0	SNV
SJMPAL012418	SJMPAL012418_D4	5	178045561	C	T	178045561	107.77	43	36	7	60	0.16	30	0	0	rs147395654	4549;1	missense	0	NM_020666	CLK4	178029665	178054054	-	CGT	CAT	Arg	His	p.R127H	481	e3	13	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL016343	SJMPAL016343_D2	5	179745861	C	T	179745861	779.77	106	66	40	60	0.38	119	0	0	NA	0	missense	0	NM_005110	GFPT2	179727700	179780315	-	CGC	CAC	Arg	His	p.R297H	682	e10	19	0	0	SNV
SJMPAL016343	SJMPAL016343_R1	5	179745861	C	T	179745861	1044.77	176	115	59	60	0.34	119	0	0	NA	0	missense	0	NM_005110	GFPT2	179727700	179780315	-	CGC	CAC	Arg	His	p.R297H	682	e10	19	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	6	16307054	C	CA	16307054	152.73	28	15	8	60	0.29	55	0	NA	NA	0	frame_shift_ins	0	NM_000332	ATXN1	16299343	16761721	-	GTG	GTG	Val	Val	p.V652fs	815	e9	9	0	0	INDEL
SJMPAL016341	SJMPAL016341_D4	6	24818777	A	AT	24818777	330.73	53	38	14	60	0.26	48	0	NA	NA	0	frame_shift_ins	0	NM_014722	FAM65B	24804509	24911398	-	ATC	ATC	Ile	Ile	p.I1003fs	1068	e21	23	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	6	26056567	A	AC	26056567	187.73	36	23	9	60	0.25	14	0	NA	NA	0	frame_shift_ins	0	NM_005319	HIST1H1C	26055968	26056699	-	GGT	GGT	Gly	Gly	p.G30fs	213	e1	1	0	0	INDEL
SJMPAL046470	SJMPAL046470_D3	6	26056567	A	AC	26056567	210.73	28	15	9	60.39	0.32	14	0	NA	NA	0	frame_shift_ins	0	NM_005319	HIST1H1C	26055968	26056699	-	GGT	GGT	Gly	Gly	p.G30fs	213	e1	1	0	0	INDEL
SJMPAL041119	SJMPAL041119_D2	6	26463582	C	T	26463582	1768.77	112	54	58	60	0.52	126	0	0	NA	0	missense	0	NM_007049	BTN2A1	26458132	26469881	+	CCC	TCC	Pro	Ser	p.P181S	527	e4	8	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	6	26463582	C	T	26463582	1872.77	128	66	62	60	0.48	126	0	0	NA	0	missense	0	NM_007049	BTN2A1	26458132	26469881	+	CCC	TCC	Pro	Ser	p.P181S	527	e4	8	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	6	29408588	G	A	29408588	1178.77	119	71	47	59.9	0.39	76	0	0	NA	0	missense	0	NM_013941	OR10C1	29407716	29408754	+	GAT	AAT	Asp	Asn	p.D266N	312	e1	1	8	Confirm(8)Report(0)Unknown(0)	SNV
SJMPAL046470	SJMPAL046470_D3	6	29408588	G	A	29408588	859.77	114	73	41	60	0.36	76	0	0	NA	0	missense	0	NM_013941	OR10C1	29407716	29408754	+	GAT	AAT	Asp	Asn	p.D266N	312	e1	1	8	Confirm(8)Report(0)Unknown(0)	SNV
SJMPAL043508	SJMPAL043508_R1	6	29523725	TCTTCCC	TGGGGAAC	29523731	3655.73	171	126	45	60	0.26	33	0	NA	NA	0	frame_shift_del	0	NM_006398	UBD	29523389	29527702	-	ATG	ATG	Met	Met	p.M144fs	165	e2	2	0	0	INDEL
SJMPAL016343	SJMPAL016343_D2	6	30529733	G	C	30529733	913.77	108	68	40	60	0.37	87	0	0	NA	0	missense	0	NM_025263	PRR3	30524486	30532473	+	GGT	CGT	Gly	Arg	p.G98R	188	e3	4	0	0	SNV
SJMPAL016343	SJMPAL016343_R1	6	30529733	G	C	30529733	621.77	123	88	35	60	0.28	87	0	0	NA	0	missense	0	NM_025263	PRR3	30524486	30532473	+	GGT	CGT	Gly	Arg	p.G98R	188	e3	4	0	0	SNV
SJMPAL041122	SJMPAL041122_D2	6	30614382	C	T	30614382	511.77	43	23	20	60	0.47	32	2	0|69	NA	0	nonsense	0	NM_001031722	ATAT1	30594663	30614598	+	CGA	TGA	Arg	*	p.R398*	409	e13	13	0	0	SNV
SJMPAL041122	SJMPAL041122_D3	6	30614382	C	T	30614382	243.77	25	15	10	59.5	0.40	32	2	0|69	NA	0	nonsense	0	NM_001031722	ATAT1	30594663	30614598	+	CGA	TGA	Arg	*	p.R398*	409	e13	13	0	0	SNV
SJMPAL041122	SJMPAL041122_D4	6	30614382	C	T	30614382	358.77	30	15	15	60	0.50	32	2	0|69	NA	0	nonsense	0	NM_001031722	ATAT1	30594663	30614598	+	CGA	TGA	Arg	*	p.R398*	409	e13	13	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	6	30955133	A	G	30955133	3696.77	331	194	136	57.32	0.41	246	0	0	NA	0	missense	0	NM_001010909	MUC21	30951485	30956414	+	GAG	GGG	Glu	Gly	p.E394G	566	e2	3	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	6	30955133	A	G	30955133	3181.78	282	162	120	56.91	0.43	246	0	0	NA	0	missense	0	NM_001010909	MUC21	30951485	30956414	+	GAG	GGG	Glu	Gly	p.E394G	566	e2	3	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	6	30955133	A	G	30955133	4027.77	457	296	160	58.14	0.35	246	0	0	NA	0	missense	0	NM_001010909	MUC21	30951485	30956414	+	GAG	GGG	Glu	Gly	p.E394G	566	e2	3	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	6	30955133	A	G	30955133	1353.77	265	203	61	56.52	0.23	246	0	0	NA	0	missense	0	NM_001010909	MUC21	30951485	30956414	+	GAG	GGG	Glu	Gly	p.E394G	566	e2	3	0	0	SNV
SJMPAL016343	SJMPAL016343_D2	6	31496834	C	T	31496834	484.77	48	29	19	60	0.40	45	0	0	rs146742941	4540;2	missense	0	NM_001011700	MCCD1	31496739	31498008	+	CGC	TGC	Arg	Cys	p.R15C	119	e1	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016343	SJMPAL016343_R1	6	31496834	C	T	31496834	324.77	50	34	16	60	0.32	45	0	0	rs146742941	4540;2	missense	0	NM_001011700	MCCD1	31496739	31498008	+	CGC	TGC	Arg	Cys	p.R15C	119	e1	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016342	SJMPAL016342_D2	6	32729596	C	T	32729596	106.77	212	189	22	60	0.10	128	0	0	NA	0	missense	0	NM_001300790	HLA-DQB2	32723875	32731330	-	GAC	AAC	Asp	Asn	p.D69N	264	e2	6	0	0	SNV
SJMPAL016342	SJMPAL016342_D4	6	32729596	C	T	32729596	NA	187	183	4	NA	0.02	128	0	0	NA	0	missense	0	NM_001300790	HLA-DQB2	32723875	32731330	-	GAC	AAC	Asp	Asn	p.D69N	264	e2	6	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	6	38783335	G	A	38783335	947.77	82	47	35	60	0.43	159	2	39|41	NA	0	missense	0	NM_001206927	DNAH8	38683117	38998574	+	GGG	GAG	Gly	Glu	p.G1142E	4707	e26	93	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	6	38783335	G	A	38783335	1111.77	91	46	45	60	0.49	159	2	39|41	NA	0	missense	0	NM_001206927	DNAH8	38683117	38998574	+	GGG	GAG	Gly	Glu	p.G1142E	4707	e26	93	0	0	SNV
SJMPAL040039	SJMPAL040039_D2	6	63995512	T	A	63995512	127.77	44	37	7	60	0.16	45	0	0	NA	0	missense	0	NM_016571	LGSN	63985856	64029882	-	ATC	TTC	Ile	Phe	p.I104F	509	e3	4	0	0	SNV
SJMPAL042794	SJMPAL042794_D2	6	74063860	G	A	74063860	1472.77	101	45	56	60	0.55	90	3	34|41|41	NA	0	missense	0	NM_001025290	DPPA5	74062785	74063999	-	ACG	ATG	Thr	Met	p.T30M	116	e1	3	0	0	SNV
SJMPAL042794	SJMPAL042794_D3	6	74063860	G	A	74063860	969.77	65	28	37	60	0.57	90	3	34|41|41	NA	0	missense	0	NM_001025290	DPPA5	74062785	74063999	-	ACG	ATG	Thr	Met	p.T30M	116	e1	3	0	0	SNV
SJMPAL042794	SJMPAL042794_D4	6	74063860	G	A	74063860	1267.77	87	45	42	60	0.48	90	3	34|41|41	NA	0	missense	0	NM_001025290	DPPA5	74062785	74063999	-	ACG	ATG	Thr	Met	p.T30M	116	e1	3	0	0	SNV
SJMPAL046466	SJMPAL046466_D2	6	84233555	G	A	84233555	1968.77	166	96	70	60	0.42	117	4	0|35|35|65	NA	0	missense	0	NM_001170423	PRSS35	84222194	84235421	+	AGC	AAC	Ser	Asn	p.S132N	413	e3	3	0	0	SNV
SJMPAL046466	SJMPAL046466_D4	6	84233555	G	A	84233555	545.77	201	168	33	60	0.16	117	4	0|35|35|65	NA	0	missense	0	NM_001170423	PRSS35	84222194	84235421	+	AGC	AAC	Ser	Asn	p.S132N	413	e3	3	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	6	117609893	C	T	117609893	104.77	29	23	5	60	0.17	49	0	0	NA	0	missense	0	NM_002944	ROS1	117609530	117747018	-	CGA	CAA	Arg	Gln	p.R2269Q	2347	e43	43	0	0	SNV
SJMPAL046471	SJMPAL046471_D2	6	135521502	T	TG	135521502	3031.73	182	94	85	60.06	0.47	166	7	NA	NA	0	frame_shift_ins	0	NM_001130173	MYB	135502453	135540311	+	GTT	GTT	Val	Val	p.V633fs	761	e13	16	0	0	INDEL
SJMPAL046471	SJMPAL046471_D4	6	135521502	T	TG	135521502	1803.73	108	55	51	60.1	0.47	166	7	NA	NA	0	frame_shift_ins	0	NM_001130173	MYB	135502453	135540311	+	GTT	GTT	Val	Val	p.V633fs	761	e13	16	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	6	136682183	G	A	136682183	257.77	29	18	10	60	0.34	11	0	0	NA	0	missense	0	NM_001198609	MAP7	136663419	136847351	-	GCG	GTG	Ala	Val	p.A584V	779	e12	18	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	6	136682183	G	A	136682183	267.77	30	20	10	60	0.33	11	0	0	NA	0	missense	0	NM_001198609	MAP7	136663419	136847351	-	GCG	GTG	Ala	Val	p.A584V	779	e12	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	6	149826719	T	C	149826719	573.77	207	167	40	60	0.19	227	2	0|0	NA	0	missense	0	NM_139126	PPIL4	149825631	149867238	-	GAT	GGT	Asp	Gly	p.D450G	492	e13	13	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	6	151694716	CTCTC	CG	151694720	2437.73	93	40	44	60	0.47	80	0	NA	NA	0	in-frame_del	0	NM_020861	ZBTB2	151685250	151712835	-	CGA	CGA	Arg	Arg	p.R18del	514	e2	3	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	6	152163797	G	T	152163797	195.77	211	189	21	60	0.10	68	1	2	NA	0	missense	0	NM_001291230	ESR1	152126808	152424408	+	AGT	ATT	Ser	Ile	p.S173I	597	e3	9	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	6	152702370	C	T	152702370	117.77	81	70	11	60	0.14	129	0	0	rs148998248	5007;1	missense	0	NM_182961	SYNE1	152442819	152958534	-	CGT	CAT	Arg	His	p.R2927H	8797	e56	146	0	0	SNV
SJMPAL016342	SJMPAL016342_R1	6	159458124	C	A	159458124	118.77	82	71	11	60	0.13	36	0	0	NA	0	missense	0	NM_054114	TAGAP	159455501	159466184	-	GAC	TAC	Asp	Tyr	p.D311Y	731	e10	10	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	6	160485562	G	A	160485562	105.77	71	61	10	60	0.14	11	0	0	NA	0	missense	0	NM_000876	IGF2R	160390131	160527583	+	CGG	CAG	Arg	Gln	p.R1339Q	2491	e28	48	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	7	5540720	G	A	5540720	529.77	54	31	23	60	0.43	52	0	0	NA	0	missense	0	NM_024963	FBXL18	5515428	5553399	-	CAC	TAC	His	Tyr	p.H394Y	718	e3	5	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	7	5540720	G	A	5540720	169.77	14	6	8	60	0.57	52	0	0	NA	0	missense	0	NM_024963	FBXL18	5515428	5553399	-	CAC	TAC	His	Tyr	p.H394Y	718	e3	5	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	7	5540720	G	A	5540720	535.77	37	15	22	60	0.59	52	0	0	NA	0	missense	0	NM_024963	FBXL18	5515428	5553399	-	CAC	TAC	His	Tyr	p.H394Y	718	e3	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	7	16317783	G	C	16317783	529.77	61	39	22	60	0.36	69	0	0	NA	0	missense	0	NM_001101426	ISPD	16127152	16460947	-	CTT	GTT	Leu	Val	p.L302V	451	e6	10	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	7	17861131	C	T	17861131	156.77	22	14	8	60	0.36	30	0	0	NA	0	splice	0	NM_015132	SNX13	17830385	17980131	-	CAG	0	Gln	0	p.Q615sp	957	e18+1	26	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	7	17861169	C	T	17861169	202.77	51	39	12	60	0.24	65	0	0	NA	0	missense	0	NM_015132	SNX13	17830385	17980131	-	AGT	AAT	Ser	Asn	p.S603N	957	e18	26	0	0	SNV
SJMPAL012420	SJMPAL012420_D2	7	35242318	A	C	35242318	1600.77	100	50	50	37.7	0.50	218	0	0	NA	0	missense	0	NM_001077653	TBX20	35242042	35293711	-	TTT	TTG	Phe	Leu	p.F356L	447	e8	8	0	0	SNV
SJMPAL012420	SJMPAL012420_D3	7	35242318	A	C	35242318	1615.77	101	49	52	37.23	0.51	218	0	0	NA	0	missense	0	NM_001077653	TBX20	35242042	35293711	-	TTT	TTG	Phe	Leu	p.F356L	447	e8	8	0	0	SNV
SJMPAL012418	SJMPAL012418_D2	7	37936572	CC	GT	37936573	1913.77	180	106	74	60	0.41	213	0	0	NA	0	missense	0	NM_016616	NME8	37888199	37940002	+	CCT	GTT	Pro	Val	p.P549V	588	e17	18	0	0	MNV
SJMPAL012418	SJMPAL012418_D3	7	37936572	CC	GT	37936573	1804.77	144	74	70	60	0.49	213	0	0	NA	0	missense	0	NM_016616	NME8	37888199	37940002	+	CCT	GTT	Pro	Val	p.P549V	588	e17	18	0	0	MNV
SJMPAL012418	SJMPAL012418_D4	7	37936572	CC	GT	37936573	1373.77	95	44	51	60	0.54	213	0	0	NA	0	missense	0	NM_016616	NME8	37888199	37940002	+	CCT	GTT	Pro	Val	p.P549V	588	e17	18	0	0	MNV
SJMPAL041117	SJMPAL041117_D2	7	48547482	G	A	48547482	170.77	29	22	7	60	0.24	20	0	0	NA	0	missense	0	NM_152701	ABCA13	48211057	48687091	+	CGT	CAT	Arg	His	p.R4454H	5058	e50	62	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D3	7	48547482	G	A	48547482	166.77	25	18	7	60	0.28	20	0	0	NA	0	missense	0	NM_152701	ABCA13	48211057	48687091	+	CGT	CAT	Arg	His	p.R4454H	5058	e50	62	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040036	SJMPAL040036_D3	7	54610461	T	C	54610461	487.77	51	32	19	60	0.37	60	0	0	NA	0	missense	0	NM_001301009	VSTM2A	54610018	54638773	+	TTC	TCC	Phe	Ser	p.F13S	240	e1	5	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	7	54610461	T	C	54610461	404.77	58	40	18	60	0.31	60	0	0	NA	0	missense	0	NM_001301009	VSTM2A	54610018	54638773	+	TTC	TCC	Phe	Ser	p.F13S	240	e1	5	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	7	54610461	T	C	54610461	145.77	32	25	7	60	0.22	60	0	0	NA	0	missense	0	NM_001301009	VSTM2A	54610018	54638773	+	TTC	TCC	Phe	Ser	p.F13S	240	e1	5	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	7	54610461	T	C	54610461	719.77	83	54	29	60	0.35	60	0	0	NA	0	missense	0	NM_001301009	VSTM2A	54610018	54638773	+	TTC	TCC	Phe	Ser	p.F13S	240	e1	5	0	0	SNV
SJMLL003311	SJMLL003311_D3	7	83035340	C	A	83035340	2341.77	184	98	86	60	0.47	357	3	39|41|41	NA	0	missense	0	NM_012431	SEMA3E	82993222	83278479	-	AAG	AAT	Lys	Asn	p.K283N	775	e8	17	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMLL003311	SJMLL003311_D4	7	83035340	C	A	83035340	2950.77	201	94	107	60	0.53	357	3	39|41|41	NA	0	missense	0	NM_012431	SEMA3E	82993222	83278479	-	AAG	AAT	Lys	Asn	p.K283N	775	e8	17	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	7	83590716	C	T	83590716	1187.77	111	62	49	60	0.44	156	0	0	NA	0	missense	0	NM_006080	SEMA3A	83587659	83824217	-	GAA	AAA	Glu	Lys	p.E763K	771	e17	17	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	7	87908745	G	A	87908745	473.77	33	11	22	60	0.67	51	0	0	rs370970171	5005;3	missense	0	NM_001205315	STEAP4	87905744	87936228	-	CGC	TGC	Arg	Cys	p.R450C	459	e6	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL011911	SJMPAL011911_D2	7	87908745	G	A	87908745	623.77	41	15	26	60	0.63	51	0	0	rs370970171	5005;3	missense	0	NM_001205315	STEAP4	87905744	87936228	-	CGC	TGC	Arg	Cys	p.R450C	459	e6	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D2	7	98649881	G	A	98649881	509.77	45	26	19	60	0.42	11	0	0	rs371859465	0	missense	0	NM_020429	SMURF1	98625058	98741743	-	ACG	ATG	Thr	Met	p.T223M	757	e7	19	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	7	98649881	G	A	98649881	275.77	34	22	11	60	0.32	11	0	0	rs371859465	0	missense	0	NM_020429	SMURF1	98625058	98741743	-	ACG	ATG	Thr	Met	p.T223M	757	e7	19	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	7	98649881	G	A	98649881	84.77	29	22	7	60	0.24	11	0	0	rs371859465	0	missense	0	NM_020429	SMURF1	98625058	98741743	-	ACG	ATG	Thr	Met	p.T223M	757	e7	19	0	0	SNV
SJMPAL011915	SJMPAL011915_D1	7	100417811	C	T	100417811	273.77	68	52	16	60	0.24	89	0	0	NA	0	missense	0	NM_004444	EPHB4	100400187	100425143	-	GTC	ATC	Val	Ile	p.V306I	987	e5	17	0	0	SNV
SJMPAL041118	SJMPAL041118_D2	7	100675967	G	A	100675967	441.77	188	158	30	60	0.16	201	1	37	NA	0	missense	0	NM_001040105	MUC17	100663364	100702140	+	GTG	ATG	Val	Met	p.V424M	4493	e3	13	0	0	SNV
SJMPAL041118	SJMPAL041118_D3	7	100675967	G	A	100675967	418.77	160	137	23	60	0.14	201	1	37	NA	0	missense	0	NM_001040105	MUC17	100663364	100702140	+	GTG	ATG	Val	Met	p.V424M	4493	e3	13	0	0	SNV
SJMPAL041118	SJMPAL041118_D4	7	100675967	G	A	100675967	27.77	123	111	12	60	0.10	201	1	37	NA	0	missense	0	NM_001040105	MUC17	100663364	100702140	+	GTG	ATG	Val	Met	p.V424M	4493	e3	13	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	7	100806455	G	A	100806455	351.77	32	19	13	60	0.41	13	0	0	NA	0	missense	0	NM_003378	VGF	100805790	100808852	-	CCG	CTG	Pro	Leu	p.P557L	615	e2	2	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	7	101190466	G	A	101190466	124.77	32	24	8	60	0.25	38	0	0	NA	0	missense	0	NM_001278563*	COL26A1	101006101	101202304	+	GTG	ATG	Val	Met	p.V296M	441	e8	13	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	7	101190466	G	A	101190466	380.77	49	31	18	60	0.37	38	0	0	NA	0	missense	0	NM_001278563*	COL26A1	101006101	101202304	+	GTG	ATG	Val	Met	p.V296M	441	e8	13	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	7	101190466	G	A	101190466	122.77	33	25	8	60	0.24	38	0	0	NA	0	missense	0	NM_001278563*	COL26A1	101006101	101202304	+	GTG	ATG	Val	Met	p.V296M	441	e8	13	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	7	105662792	G	A	105662792	187.77	192	169	23	60	0.12	39	0	0	rs35851873	69;1	missense	0	NM_152750	CDHR3	105603657	105676877	+	ATG	ATA	Met	Ile	p.M658I	885	e14	19	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	7	117175323	G	A	117175323	2966.77	251	136	115	60	0.46	228	3	0|36|71	rs138338446	5006;2	missense	0	NM_000492	CFTR	117120017	117308718	+	GTG	ATG	Val	Met	p.V201M	1480	e6	27	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	7	117175323	G	A	117175323	608.77	68	42	26	60	0.38	228	3	0|36|71	rs138338446	5006;2	missense	0	NM_000492	CFTR	117120017	117308718	+	GTG	ATG	Val	Met	p.V201M	1480	e6	27	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	7	117175323	G	A	117175323	2207.77	198	113	85	60	0.43	228	3	0|36|71	rs138338446	5006;2	missense	0	NM_000492	CFTR	117120017	117308718	+	GTG	ATG	Val	Met	p.V201M	1480	e6	27	0	0	SNV
SJMPAL040039	SJMPAL040039_D2	7	117451013	G	A	117451013	1822.77	88	31	57	60	0.65	52	0	0	NA	0	missense	0	NM_033427	CTTNBP2	117350706	117513561	-	CGG	TGG	Arg	Trp	p.R74W	1663	e3	23	0	0	SNV
SJMPAL040039	SJMPAL040039_D3	7	117451013	G	A	117451013	352.77	44	30	14	60	0.32	52	0	0	NA	0	missense	0	NM_033427	CTTNBP2	117350706	117513561	-	CGG	TGG	Arg	Trp	p.R74W	1663	e3	23	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	7	123092831	G	A	123092831	349.77	81	63	18	60	0.22	108	0	0	NA	0	missense	0	NM_001282855	IQUB	123092236	123173002	-	CCT	CTT	Pro	Leu	p.P781L	791	e13	13	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	7	128475575	G	A	128475575	330.77	68	52	16	60	0.24	125	0	0	NA	0	missense	0	NM_001458	FLNC	128470483	128499328	+	CGT	CAT	Arg	His	p.R183H	2725	e2	48	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	7	128585965	G	C	128585965	755.77	51	23	28	60	0.55	79	0	0	NA	0	missense	0	NM_001098629	IRF5	128577991	128590096	+	GCC	CCC	Ala	Pro	p.A88P	514	e3	9	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	7	128585965	G	C	128585965	785.77	63	29	34	60	0.54	79	0	0	NA	0	missense	0	NM_001098629	IRF5	128577991	128590096	+	GCC	CCC	Ala	Pro	p.A88P	514	e3	9	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	7	128585965	G	C	128585965	890.77	84	43	41	60	0.49	79	0	0	NA	0	missense	0	NM_001098629	IRF5	128577991	128590096	+	GCC	CCC	Ala	Pro	p.A88P	514	e3	9	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	7	128585965	G	C	128585965	249.77	102	85	17	60	0.17	79	0	0	NA	0	missense	0	NM_001098629	IRF5	128577991	128590096	+	GCC	CCC	Ala	Pro	p.A88P	514	e3	9	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	7	131831414	C	T	131831414	1552.77	107	47	59	60	0.55	54	0	0	NA	0	missense	0	NM_020911	PLXNA4	131808091	132261323	-	CGG	CAG	Arg	Gln	p.R1637Q	1894	e28	32	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D3	7	131831414	C	T	131831414	1236.77	80	38	42	60	0.53	54	0	0	NA	0	missense	0	NM_020911	PLXNA4	131808091	132261323	-	CGG	CAG	Arg	Gln	p.R1637Q	1894	e28	32	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D4	7	131831414	C	T	131831414	669.77	91	64	26	60	0.29	54	0	0	NA	0	missense	0	NM_020911	PLXNA4	131808091	132261323	-	CGG	CAG	Arg	Gln	p.R1637Q	1894	e28	32	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D2	7	136938288	C	T	136938288	NA	83	78	5	NA	0.06	70	0	0	NA	0	missense	0	NM_002825	PTN	136912092	137028546	-	CGG	CAG	Arg	Gln	p.R71Q	168	e3	5	0	0	SNV
SJMPAL046471	SJMPAL046471_D2	7	140125879	G	A	140125879	359.77	65	49	15	60	0.23	93	0	0	rs144362151	4457;1	missense	0	NM_001008749	RAB19	140103843	140126050	+	GGC	AGC	Gly	Ser	p.G195S	217	e4	4	0	0	SNV
SJMPAL046471	SJMPAL046471_D4	7	140125879	G	A	140125879	410.77	57	40	17	60	0.30	93	0	0	rs144362151	4457;1	missense	0	NM_001008749	RAB19	140103843	140126050	+	GGC	AGC	Gly	Ser	p.G195S	217	e4	4	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	7	141730558	G	C	141730558	174.77	35	24	11	60	0.31	63	0	0	NA	0	splice	0	NM_004668	MGAM	141695679	141806547	+	GAG	0	Glu	0	p.E490sp	1857	e12+1	48	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	7	141730558	G	C	141730558	113.77	69	57	12	60	0.17	63	0	0	NA	0	splice	0	NM_004668	MGAM	141695679	141806547	+	GAG	0	Glu	0	p.E490sp	1857	e12+1	48	0	0	SNV
SJMPAL040030	SJMPAL040030_D2	7	147914470	A	G	147914470	3952.77	372	216	156	60	0.42	277	0	0	NA	0	missense	0	NM_014141	CNTNAP2	145813453	148118088	+	GAC	GGC	Asp	Gly	p.D1034G	1331	e19	24	0	0	SNV
SJMPAL040030	SJMPAL040030_D3	7	147914470	A	G	147914470	2960.77	256	143	113	60	0.44	277	0	0	NA	0	missense	0	NM_014141	CNTNAP2	145813453	148118088	+	GAC	GGC	Asp	Gly	p.D1034G	1331	e19	24	0	0	SNV
SJMPAL040030	SJMPAL040030_D4	7	147914470	A	G	147914470	3850.77	267	118	149	60	0.56	277	0	0	NA	0	missense	0	NM_014141	CNTNAP2	145813453	148118088	+	GAC	GGC	Asp	Gly	p.D1034G	1331	e19	24	0	0	SNV
SJMPAL040030	SJMPAL040030_D5	7	147914470	A	G	147914470	2592.77	214	118	95	60	0.44	277	0	0	NA	0	missense	0	NM_014141	CNTNAP2	145813453	148118088	+	GAC	GGC	Asp	Gly	p.D1034G	1331	e19	24	0	0	SNV
SJMPAL012419	SJMPAL012419_D2	7	149474426	G	A	149474426	NA	18	13	5	NA	0.28	1	0	0	NA	0	missense	0	NM_198455	SSPO	149473131	149531053	+	CGC	CAC	Arg	His	p.R157H	5147	e4	110	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	7	149474426	G	A	149474426	NA	21	10	11	NA	0.52	1	0	0	NA	0	missense	0	NM_198455	SSPO	149473131	149531053	+	CGC	CAC	Arg	His	p.R157H	5147	e4	110	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	8	1830822	G	A	1830822	1337.77	136	78	58	60	0.43	126	0	0	NA	0	missense	0	NM_014629	ARHGEF10	1772149	1906807	+	GCG	ACG	Ala	Thr	p.A328T	1344	e10	29	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D3	8	1830822	G	A	1830822	1618.77	168	101	67	60	0.40	126	0	0	NA	0	missense	0	NM_014629	ARHGEF10	1772149	1906807	+	GCG	ACG	Ala	Thr	p.A328T	1344	e10	29	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D4	8	1830822	G	A	1830822	1611.77	135	63	70	60	0.52	126	0	0	NA	0	missense	0	NM_014629	ARHGEF10	1772149	1906807	+	GCG	ACG	Ala	Thr	p.A328T	1344	e10	29	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	8	10159048	A	T	10159048	381.77	23	9	14	60	0.61	39	0	0	NA	0	missense	0	NM_012331	MSRA	9911779	10286401	+	AAA	AAT	Lys	Asn	p.K112N	235	e4	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	8	10159048	A	T	10159048	282.77	18	7	11	60	0.61	39	0	0	NA	0	missense	0	NM_012331	MSRA	9911779	10286401	+	AAA	AAT	Lys	Asn	p.K112N	235	e4	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	8	12586519	T	C	12586519	349.77	123	101	21	60	0.17	152	0	0	NA	0	missense	0	NM_152271	LONRF1	12579406	12612992	-	GAC	GGC	Asp	Gly	p.D634G	773	e10	12	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	8	21847910	                                                                                 	T	21847910	1066.77	72	37	35	60	0.49	140	4	37|40|41|41	NA	0	missense	0	NM_015024	XPO7	21777180	21864096	+	AAT	TAT	Asn	Tyr	p.N642Y	1087	e17	28	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	8	32617769	C	T	32617769	3711.77	294	154	140	60	0.48	34	0	0	NA	0	missense	0	NM_001159999*	NRG1	32453344	32622558	+	CGT	TGT	Arg	Cys	p.R344C	613	e11	12	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	8	32617769	C	T	32617769	1886.77	242	154	88	60	0.36	34	0	0	NA	0	missense	0	NM_001159999*	NRG1	32453344	32622558	+	CGT	TGT	Arg	Cys	p.R344C	613	e11	12	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	8	33247107	G	A	33247107	564.77	204	167	36	60	0.18	315	0	0	NA	0	nonsense	0	NM_032664	FUT10	33228344	33330664	-	CGA	TGA	Arg	*	p.R196*	479	e4	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	8	37611016	A	G	37611016	58.77	231	211	20	60	0.09	377	0	0	NA	0	missense	0	NM_007175	ERLIN2	37594097	37615319	+	TAC	TGC	Tyr	Cys	p.Y263C	339	e11	12	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	8	52323896	G	T	52323896	726.77	54	23	31	60	0.57	47	0	0	NA	0	missense	0	NM_144651	PXDNL	52232137	52722005	-	GCA	GAA	Ala	Glu	p.A659E	1463	e16	23	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	8	53569751	C	T	53569751	1181.77	113	74	39	60	0.35	127	0	0	NA	0	missense	0	NM_014781	RB1CC1	53535018	53627026	-	GGA	AGA	Gly	Arg	p.G880R	1594	e15	24	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	8	53569751	C	T	53569751	NA	45	41	4	NA	0.09	127	0	0	NA	0	missense	0	NM_014781	RB1CC1	53535018	53627026	-	GGA	AGA	Gly	Arg	p.G880R	1594	e15	24	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	8	72756188	G	C	72756188	483.77	38	17	21	60	0.55	15	0	0	NA	0	missense	0	NM_005098	MSC	72753777	72756731	-	CGT	GGT	Arg	Gly	p.R76G	206	e1	2	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	8	72756188	G	C	72756188	181.77	17	8	9	60	0.53	15	0	0	NA	0	missense	0	NM_005098	MSC	72753777	72756731	-	CGT	GGT	Arg	Gly	p.R76G	206	e1	2	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	8	118847786	G	A	118847786	1436.77	90	37	53	60	0.59	118	2	0|82	NA	0	missense	0	NM_000127	EXT1	118811602	119124058	-	GCC	GTC	Ala	Val	p.A354V	746	e3	11	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	8	118847786	G	A	118847786	1276.77	103	52	51	60	0.50	118	2	0|82	NA	0	missense	0	NM_000127	EXT1	118811602	119124058	-	GCC	GTC	Ala	Val	p.A354V	746	e3	11	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	8	118847786	G	A	118847786	1056.77	76	39	37	60	0.49	118	2	0|82	NA	0	missense	0	NM_000127	EXT1	118811602	119124058	-	GCC	GTC	Ala	Val	p.A354V	746	e3	11	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	8	124799555	T	C	124799555	335.77	113	93	20	59.43	0.18	130	0	0	NA	0	missense	0	NM_144963	FAM91A1	124780882	124827690	+	ATC	ACC	Ile	Thr	p.I378T	838	e13	24	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	8	142222502	C	T	142222502	34.77	78	70	8	60	0.10	78	0	0	NA	0	missense	0	NM_001286646	SLC45A4	142217265	142264728	-	GCC	ACC	Ala	Thr	p.A699T	808	e7	8	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	8	144650391	C	CA	144650391	92.73	48	37	7	60	0.15	62	0	NA	NA	0	frame_shift_ins	0	NM_001100878	MROH6	144648363	144654928	-	TGC	TGC	Cys	Cys	p.C562fs	719	e11	14	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	8	144808467	C	T	144808467	3021.77	266	166	100	60	0.38	36	2	33|39	NA	0	missense	0	NM_198488	FAM83H	144806103	144815914	-	CGT	CAT	Arg	His	p.R1055H	1179	e5	5	0	0	SNV
SJMPAL040036	SJMPAL040036_D3	8	145113710	G	A	145113710	110.77	10	5	5	60	0.50	16	0	0	NA	0	missense	0	NM_017570	OPLAH	145106167	145115606	-	CGC	TGC	Arg	Cys	p.R185C	1288	e5	28	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	8	145113710	G	A	145113710	210.77	20	12	8	60	0.40	16	0	0	NA	0	missense	0	NM_017570	OPLAH	145106167	145115606	-	CGC	TGC	Arg	Cys	p.R185C	1288	e5	28	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	8	145113710	G	A	145113710	448.77	31	14	17	60	0.55	16	0	0	NA	0	missense	0	NM_017570	OPLAH	145106167	145115606	-	CGC	TGC	Arg	Cys	p.R185C	1288	e5	28	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	8	145113710	G	A	145113710	253.77	18	9	9	60	0.50	16	0	0	NA	0	missense	0	NM_017570	OPLAH	145106167	145115606	-	CGC	TGC	Arg	Cys	p.R185C	1288	e5	28	0	0	SNV
SJMPAL011912	SJMPAL011912_D2	9	33566235	G	A	33566235	338.77	283	252	31	49.87	0.11	381	0	0	NA	0	missense	0	NM_001244752	ANKRD18B	33524411	33573001	+	GAG	AAG	Glu	Lys	p.E764K	1010	e13	16	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	9	37015165	G	C	37015165	1008.77	62	29	33	60	0.53	63	0	0	NA	0	missense	0	NM_016734	PAX5	36833272	37034476	-	CCT	CGT	Pro	Arg	p.P80R	391	e3	10	24	Confirm(24)Report(0)Unknown(0)	SNV
SJMPAL046468	SJMPAL046468_D2	9	37020672	A	G	37020672	1140.77	96	55	41	60	0.43	46	0	0	NA	0	missense	0	NM_016734	PAX5	36833272	37034476	-	CTT	CCT	Leu	Pro	p.L58P	391	e2	10	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	9	72897384	G	A	72897384	382.77	44	27	17	60	0.39	69	0	0	rs369127149	0	missense	0	NM_015110	SMC5	72873878	72969789	+	CGT	CAT	Arg	His	p.R289H	1101	e7	25	0	0	SNV
SJMPAL017975	SJMPAL017975_D3	9	72897384	G	A	72897384	441.77	40	19	21	60	0.53	69	0	0	rs369127149	0	missense	0	NM_015110	SMC5	72873878	72969789	+	CGT	CAT	Arg	His	p.R289H	1101	e7	25	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	9	98209529	C	T	98209529	462.77	150	116	32	60	0.21	225	1	31	NA	0	missense	0	NM_000264	PTCH1	98205264	98270831	-	GCC	ACC	Ala	Thr	p.A1337T	1447	e23	24	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	9	98211464	C	A	98211464	394.77	196	164	31	60	0.16	259	0	0	NA	0	missense	0	NM_000264	PTCH1	98205264	98270831	-	GTG	TTG	Val	Leu	p.V1231L	1447	e22	24	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	9	98211580	C	T	98211580	198.77	108	94	14	60	0.13	187	0	0	NA	0	missense	0	NM_000264	PTCH1	98205264	98270831	-	CGC	CAC	Arg	His	p.R1192H	1447	e22	24	0	0	SNV
SJMPAL012419	SJMPAL012419_D2	9	104302549	G	A	104302549	1432.77	97	50	47	60	0.48	192	0	0	NA	0	missense	0	NM_019592	RNF20	104296131	104325626	+	CGG	CAG	Arg	Gln	p.R65Q	975	e3	20	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL012419	SJMPAL012419_R2	9	104302549	G	A	104302549	1837.77	199	131	67	60	0.34	192	0	0	NA	0	missense	0	NM_019592	RNF20	104296131	104325626	+	CGG	CAG	Arg	Gln	p.R65Q	975	e3	20	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL012425	SJMPAL012425_D2	9	105767504	C	G	105767504	624.77	40	18	22	60	0.55	36	0	0	NA	0	missense	0	NM_001340	CYLC2	105757593	105780770	+	AAC	AAG	Asn	Lys	p.N197K	348	e5	8	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	9	105767504	C	G	105767504	231.77	18	10	8	60	0.44	36	0	0	NA	0	missense	0	NM_001340	CYLC2	105757593	105780770	+	AAC	AAG	Asn	Lys	p.N197K	348	e5	8	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	9	107595036	C	T	107595036	1007.77	95	52	43	60	0.45	130	0	0	rs199916575	5007;1	missense	0	NM_005502	ABCA1	107543284	107690527	-	AGG	AAG	Arg	Lys	p.R443K	2261	e12	50	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	9	107595036	C	T	107595036	1155.77	108	69	38	60	0.35	130	0	0	rs199916575	5007;1	missense	0	NM_005502	ABCA1	107543284	107690527	-	AGG	AAG	Arg	Lys	p.R443K	2261	e12	50	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	9	107595036	C	T	107595036	1369.77	108	60	48	60	0.44	130	0	0	rs199916575	5007;1	missense	0	NM_005502	ABCA1	107543284	107690527	-	AGG	AAG	Arg	Lys	p.R443K	2261	e12	50	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	9	110250098	C	T	110250098	40.77	13	10	3	60	0.23	17	0	0	NA	0	missense	0	NM_004235	KLF4	110247133	110252047	-	GTG	ATG	Val	Met	p.V193M	479	e3	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	9	123935998	C	T	123935998	196.77	129	111	18	60	0.14	156	0	0	NA	0	missense	0	NM_007018	CNTRL	123850574	123939886	+	CGG	TGG	Arg	Trp	p.R2244W	2325	e40	42	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	9	125673169	A	G	125673169	213.77	115	98	17	60	0.15	187	0	0	NA	0	missense	0	NM_006626	ZBTB6	125670335	125675607	-	TCT	CCT	Ser	Pro	p.S395P	424	e2	2	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	9	128692072	C	CAA	128692072	326.73	84	60	12	60	0.14	142	0	NA	NA	0	frame_shift_ins	0	NM_006195	PBX3	128509617	128729655	+	CAA	CAA	Gln	Gln	p.Q219fs	434	e4	9	0	0	INDEL
SJMPAL016343	SJMPAL016343_D2	9	130825855	T	C	130825855	1045.77	90	49	41	60	0.46	56	0	0	NA	0	missense	0	NM_197956	NAIF1	130823512	130829599	-	CAG	CGG	Gln	Arg	p.Q279R	327	e2	2	0	0	SNV
SJMPAL016343	SJMPAL016343_R1	9	130825855	T	C	130825855	908.77	106	58	47	60	0.44	56	0	0	NA	0	missense	0	NM_197956	NAIF1	130823512	130829599	-	CAG	CGG	Gln	Arg	p.Q279R	327	e2	2	0	0	SNV
SJMPAL016343	SJMPAL016343_D4	9	130825855	T	C	130825855	NA	85	82	3	NA	0.04	56	0	0	NA	0	missense	0	NM_197956	NAIF1	130823512	130829599	-	CAG	CGG	Gln	Arg	p.Q279R	327	e2	2	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	9	131898761	T	A	131898761	155.77	24	17	7	60	0.29	56	0	0	NA	0	missense	0	NM_178001	PPP2R4	131873593	131911225	+	GTT	GAT	Val	Asp	p.V226D	358	e8	11	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	9	132501999	T	C	132501999	555.77	132	100	31	59.91	0.23	88	0	0	NA	0	missense	0	NM_004878	PTGES	132500615	132515344	-	TAC	TGC	Tyr	Cys	p.Y117C	152	e3	3	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	9	132501999	T	C	132501999	614.77	95	67	27	60	0.28	88	0	0	NA	0	missense	0	NM_004878	PTGES	132500615	132515344	-	TAC	TGC	Tyr	Cys	p.Y117C	152	e3	3	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	9	132501999	T	C	132501999	193.77	126	109	17	60	0.13	88	0	0	NA	0	missense	0	NM_004878	PTGES	132500615	132515344	-	TAC	TGC	Tyr	Cys	p.Y117C	152	e3	3	0	0	SNV
SJMPAL016343	SJMPAL016343_D2	9	133260109	G	A	133260109	331.77	58	42	16	60	0.28	57	0	0	NA	0	missense	0	NM_001291815*	HMCN2	133028158	133309510	+	GGA	AGA	Gly	Arg	p.G2453R	4522	e48	87	0	0	SNV
SJMPAL016343	SJMPAL016343_R1	9	133260109	G	A	133260109	530.77	67	38	29	60	0.43	57	0	0	NA	0	missense	0	NM_001291815*	HMCN2	133028158	133309510	+	GGA	AGA	Gly	Arg	p.G2453R	4522	e48	87	0	0	SNV
SJMPAL012418	SJMPAL012418_D2	9	134073007	G	GC	134073007	694.73	91	50	33	60.3	0.36	44	0	NA	NA	0	frame_shift_ins	0	NM_005085	NUP214	134000948	134110057	+	GCC	GCC	Ala	Ala	p.A1376fs	2090	e29	36	68	Confirm(68)Report(0)Unknown(0)	INDEL
SJMPAL012418	SJMPAL012418_D3	9	134073007	G	GC	134073007	871.73	62	25	34	60.17	0.55	44	0	NA	NA	0	frame_shift_ins	0	NM_005085	NUP214	134000948	134110057	+	GCC	GCC	Ala	Ala	p.A1376fs	2090	e29	36	68	Confirm(68)Report(0)Unknown(0)	INDEL
SJMPAL012418	SJMPAL012418_D4	9	134073007	G	GC	134073007	604.73	57	30	25	60.38	0.44	44	0	NA	NA	0	frame_shift_ins	0	NM_005085	NUP214	134000948	134110057	+	GCC	GCC	Ala	Ala	p.A1376fs	2090	e29	36	68	Confirm(68)Report(0)Unknown(0)	INDEL
SJMPAL043508	SJMPAL043508_R1	9	134455018	T	TCC	134455018	1435.73	104	62	36	60.1	0.35	32	0	NA	NA	0	frame_shift_ins	0	NM_198679	RAPGEF1	134452157	134585229	-	AGG	AGG	Arg	Arg	p.R1052fs	1095	e24	24	0	0	INDEL
SJMPAL040031	SJMPAL040031_D2	9	136223171	G	A	136223171	436.81	19	3	16	59.39	0.84	16	2	40|41	NA	0	missense	0	NM_003172	SURF1	136218660	136223361	-	CCG	CTG	Pro	Leu	p.P20L	300	e2	9	0	0	SNV
SJMPAL040031	SJMPAL040031_D4	9	136223171	G	A	136223171	222.77	13	3	10	60	0.77	16	2	40|41	NA	0	missense	0	NM_003172	SURF1	136218660	136223361	-	CCG	CTG	Pro	Leu	p.P20L	300	e2	9	0	0	SNV
SJMPAL040031	SJMPAL040031_D5	9	136223171	G	A	136223171	324.77	23	9	14	60	0.61	16	2	40|41	NA	0	missense	0	NM_003172	SURF1	136218660	136223361	-	CCG	CTG	Pro	Leu	p.P20L	300	e2	9	0	0	SNV
SJMPAL040031	SJMPAL040031_D3	9	136223171	G	A	136223171	NA	20	12	8	NA	0.40	16	2	40|41	NA	0	missense	0	NM_003172	SURF1	136218660	136223361	-	CCG	CTG	Pro	Leu	p.P20L	300	e2	9	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	9	136501510	G	A	136501510	1813.77	101	29	72	60	0.71	70	0	0	NA	0	missense	0	NM_000787	DBH	136501485	136524466	+	CGC	CAC	Arg	His	p.R6H	617	e1	12	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	9	136501510	G	A	136501510	1031.77	80	39	40	60	0.50	70	0	0	NA	0	missense	0	NM_000787	DBH	136501485	136524466	+	CGC	CAC	Arg	His	p.R6H	617	e1	12	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	9	136501510	G	A	136501510	479.77	73	48	25	60	0.34	70	0	0	NA	0	missense	0	NM_000787	DBH	136501485	136524466	+	CGC	CAC	Arg	His	p.R6H	617	e1	12	0	0	SNV
SJMPAL040031	SJMPAL040031_D2	9	137987749	C	T	137987749	325.77	88	69	19	60	0.22	51	2	0|78	NA	0	missense	0	NM_001282611	OLFM1	137979514	138013030	+	CGG	TGG	Arg	Trp	p.R114W	485	e3	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D3	9	137987749	C	T	137987749	252.77	85	70	15	60	0.18	51	2	0|78	NA	0	missense	0	NM_001282611	OLFM1	137979514	138013030	+	CGG	TGG	Arg	Trp	p.R114W	485	e3	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D4	9	137987749	C	T	137987749	771.77	58	31	27	60	0.47	51	2	0|78	NA	0	missense	0	NM_001282611	OLFM1	137979514	138013030	+	CGG	TGG	Arg	Trp	p.R114W	485	e3	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040031	SJMPAL040031_D5	9	137987749	C	T	137987749	1066.77	106	64	42	60	0.40	51	2	0|78	NA	0	missense	0	NM_001282611	OLFM1	137979514	138013030	+	CGG	TGG	Arg	Trp	p.R114W	485	e3	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	9	139230496	T	C	139230496	209.77	87	71	16	60	0.18	125	0	0	NA	0	missense	0	NM_001145638	GPSM1	139221932	139254057	+	TTC	CTC	Phe	Leu	p.F122L	675	e3	14	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	10	11291157	G	T	11291157	176.77	112	94	18	60	0.16	34	0	0	NA	0	missense	0	NM_006561	CELF2	11059893	11378672	+	AAG	AAT	Lys	Asn	p.K132N	521	e4	15	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	10	20290827	G	A	20290827	5185.77	486	273	213	60	0.44	583	0	0	NA	0	missense	0	NM_032812	PLXDC2	20105372	20578784	+	CGA	CAA	Arg	Gln	p.R79Q	529	e2	14	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL046470	SJMPAL046470_D2	10	22856817	C	A	22856817	888.77	218	169	48	60	0.22	81	0	0	NA	0	missense	0	NM_005028	PIP4K2A	22823766	23003503	-	GGC	GTC	Gly	Val	p.G214V	406	e6	10	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	10	22856817	C	A	22856817	665.77	162	123	39	60	0.24	81	0	0	NA	0	missense	0	NM_005028	PIP4K2A	22823766	23003503	-	GGC	GTC	Gly	Val	p.G214V	406	e6	10	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	10	26462719	A	G	26462719	282.77	196	169	25	60	0.13	243	0	0	NA	0	missense	0	NM_017433	MYO3A	26223002	26501465	+	ACC	GCC	Thr	Ala	p.T1176A	1616	e30	35	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	10	27702192	T	C	27702192	2770.77	229	136	92	60.05	0.40	90	2	35|37	NA	0	missense	0	NM_001034842	PTCHD3	27687117	27703297	-	ACC	GCC	Thr	Ala	p.T330A	767	e1	4	0	0	SNV
SJMPAL040025	SJMPAL040025_D2	10	50340364	G	A	50340364	717.77	55	32	23	60	0.42	57	0	0	NA	0	missense	0	NM_001164484	FAM170B	50339201	50342065	-	CCG	CTG	Pro	Leu	p.P49L	283	e2	2	0	0	SNV
SJMPAL040025	SJMPAL040025_D3	10	50340364	G	A	50340364	612.77	39	19	20	60	0.51	57	0	0	NA	0	missense	0	NM_001164484	FAM170B	50339201	50342065	-	CCG	CTG	Pro	Leu	p.P49L	283	e2	2	0	0	SNV
SJMPAL040030	SJMPAL040030_D2	10	51580910	C	CA	51580910	116.73	112	99	12	59.7	0.11	97	0	NA	NA	0	frame_shift_ins	0	NM_001145260	NCOA4	51565108	51590734	+	CAA	CAA	Gln	Gln	p.Q121fs	650	e5	12	0	0	INDEL
SJMPAL040030	SJMPAL040030_D3	10	51580910	C	CA	51580910	NA	95	89	6	NA	0.06	97	0	NA	NA	0	frame_shift_ins	0	NM_001145260	NCOA4	51565108	51590734	+	CAA	CAA	Gln	Gln	p.Q121fs	650	e5	12	0	0	INDEL
SJMPAL040030	SJMPAL040030_D4	10	51580910	C	CA	51580910	NA	91	88	3	NA	0.03	97	0	NA	NA	0	frame_shift_ins	0	NM_001145260	NCOA4	51565108	51590734	+	CAA	CAA	Gln	Gln	p.Q121fs	650	e5	12	0	0	INDEL
SJMPAL040030	SJMPAL040030_D5	10	51580910	C	CA	51580910	NA	67	64	3	NA	0.04	97	0	NA	NA	0	frame_shift_ins	0	NM_001145260	NCOA4	51565108	51590734	+	CAA	CAA	Gln	Gln	p.Q121fs	650	e5	12	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	10	53227590	G	A	53227590	1474.77	378	303	75	60	0.20	147	0	0	NA	0	missense	0	NM_006258	PRKG1	52834234	54058110	+	GTC	ATC	Val	Ile	p.V196I	686	e3	18	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL046470	SJMPAL046470_D3	10	53227590	G	A	53227590	891.77	216	167	49	60	0.23	147	0	0	NA	0	missense	0	NM_006258	PRKG1	52834234	54058110	+	GTC	ATC	Val	Ile	p.V196I	686	e3	18	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	10	60573729	G	A	60573729	316.77	226	198	28	60	0.12	277	0	0	rs200282277	0	missense	0	NM_001080512	BICC1	60272904	60591197	+	CGT	CAT	Arg	His	p.R839H	974	e18	21	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	10	70644414	G	A	70644414	4937.77	309	152	157	60	0.51	378	2	0|73	NA	0	missense	0	NM_152709	STOX1	70587294	70652816	+	GCG	ACG	Ala	Thr	p.A288T	989	e3	4	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	10	70644414	G	A	70644414	6212.77	415	213	202	60	0.49	378	2	0|73	NA	0	missense	0	NM_152709	STOX1	70587294	70652816	+	GCG	ACG	Ala	Thr	p.A288T	989	e3	4	0	0	SNV
SJMPAL046469	SJMPAL046469_D1	10	72026017	G	T	72026017	1090.77	119	63	55	60	0.46	162	1	41	NA	0	missense	0	NM_022146	NPFFR1	72014713	72043450	-	TTC	TTA	Phe	Leu	p.F46L	430	e2	4	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	10	72629636	G	C	72629636	804.77	66	29	37	60	0.56	111	0	0	NA	0	missense	0	NM_003901	SGPL1	72575704	72640932	+	ATG	ATC	Met	Ile	p.M264I	568	e9	15	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	10	73039701	G	GCTT	73039701	2175.73	127	69	42	60.09	0.33	101	0	NA	NA	0	in-frame_ins	0	NM_170744	UNC5B	72972292	73062635	+	CGC	CGC	Arg	Arg	p.R68ins	945	e2	17	0	0	INDEL
SJMPAL040038	SJMPAL040038_D2	10	75529739	C	A	75529739	1601.77	120	54	66	60	0.55	89	0	0	NA	0	missense	0	NM_198597	SEC24C	75504131	75531933	+	ACC	AAC	Thr	Asn	p.T943N	1094	e20	23	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	10	75566931	T	C	75566931	2392.77	187	95	92	60	0.49	134	4	0|35|36|78	NA	0	missense	0	NM_003635	NDST2	75561669	75571589	-	AAA	AGA	Lys	Arg	p.K343R	883	e4	15	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	10	75566931	T	C	75566931	256.77	56	41	15	60	0.27	134	4	0|35|36|78	NA	0	missense	0	NM_003635	NDST2	75561669	75571589	-	AAA	AGA	Lys	Arg	p.K343R	883	e4	15	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	10	75566931	T	C	75566931	2403.77	159	61	98	60	0.62	134	4	0|35|36|78	NA	0	missense	0	NM_003635	NDST2	75561669	75571589	-	AAA	AGA	Lys	Arg	p.K343R	883	e4	15	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	10	76789209	C	CA	76789209	823.73	206	158	35	60	0.17	297	0	NA	NA	0	frame_shift_ins	0	NM_012330	KAT6B	76586171	76792380	+	CAG	CAG	Gln	Gln	p.Q1543fs	2073	e18	18	0	0	INDEL
SJMPAL040025	SJMPAL040025_D2	10	81052051	G	A	81052051	719.77	55	29	26	60	0.47	54	0	0	NA	0	missense	0	NM_020338	ZMIZ1	80828792	81076285	+	GCC	ACC	Ala	Thr	p.A299T	1067	e11	25	0	0	SNV
SJMPAL040025	SJMPAL040025_D3	10	81052051	G	A	81052051	722.77	49	24	25	60	0.51	54	0	0	NA	0	missense	0	NM_020338	ZMIZ1	80828792	81076285	+	GCC	ACC	Ala	Thr	p.A299T	1067	e11	25	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	10	87362370	G	A	87362370	102.77	192	171	20	60	0.10	33	0	0	NA	0	missense	0	NM_017551	GRID1	87359312	88126250	-	TCG	TTG	Ser	Leu	p.S897L	1009	e16	16	0	0	SNV
SJMPAL041118	SJMPAL041118_D2	10	88854340	C	A	88854340	872.77	75	40	35	59.92	0.47	156	1	30	NA	0	missense	0	NM_005271	GLUD1	88809959	88854776	-	GAC	TAC	Asp	Tyr	p.D63Y	558	e1	13	0	0	SNV
SJMPAL041118	SJMPAL041118_D3	10	88854340	C	A	88854340	574.77	48	27	21	59.88	0.44	156	1	30	NA	0	missense	0	NM_005271	GLUD1	88809959	88854776	-	GAC	TAC	Asp	Tyr	p.D63Y	558	e1	13	0	0	SNV
SJMPAL041118	SJMPAL041118_D4	10	88854340	C	A	88854340	221.77	26	17	9	60	0.35	156	1	30	NA	0	missense	0	NM_005271	GLUD1	88809959	88854776	-	GAC	TAC	Asp	Tyr	p.D63Y	558	e1	13	0	0	SNV
SJMLL003311	SJMLL003311_D3	10	95557009	G	A	95557009	45.77	232	213	19	60	0.08	155	0	0	NA	0	missense	0	NM_005097	LGI1	95517566	95557916	+	GCG	ACG	Ala	Thr	p.A375T	557	e8	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMLL003311	SJMLL003311_D4	10	95557009	G	A	95557009	NA	248	236	12	NA	0.05	155	0	0	NA	0	missense	0	NM_005097	LGI1	95517566	95557916	+	GCG	ACG	Ala	Thr	p.A375T	557	e8	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D2	10	101090187	C	T	101090187	522.77	41	24	17	60	0.41	11	0	0	NA	0	missense	0	NM_020348	CNNM1	101088856	101154087	+	TCG	TTG	Ser	Leu	p.S348L	951	e1	11	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	10	101090187	C	T	101090187	284.77	43	32	11	60	0.26	11	0	0	NA	0	missense	0	NM_020348	CNNM1	101088856	101154087	+	TCG	TTG	Ser	Leu	p.S348L	951	e1	11	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	10	101715397	G	A	101715397	1743.77	99	38	61	60	0.62	79	0	0	NA	0	missense	0	NM_015221	DNMBP	101635334	101769676	-	CCA	TCA	Pro	Ser	p.P612S	1577	e4	17	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	10	101715397	G	A	101715397	1606.77	102	45	57	60	0.56	79	0	0	NA	0	missense	0	NM_015221	DNMBP	101635334	101769676	-	CCA	TCA	Pro	Ser	p.P612S	1577	e4	17	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	10	104852955	C	T	104852955	110.77	39	33	6	60	0.15	24	0	0	NA	0	missense	0	NM_012229	NT5C2	104847774	104953063	-	CGA	CAA	Arg	Gln	p.R367Q	561	e15	19	31	Confirm(16)Report(15)Unknown(0)	SNV
SJMPAL041122	SJMPAL041122_D2	10	105362610	G	A	105362610	562.77	55	32	23	60	0.42	59	2	35|36	rs200938753	5004;4	missense	0	NM_014631	SH3PXD2A	105353784	105615164	-	CGT	TGT	Arg	Cys	p.R761C	1105	e14	14	0	0	SNV
SJMPAL041122	SJMPAL041122_D3	10	105362610	G	A	105362610	514.77	47	28	19	60	0.40	59	2	35|36	rs200938753	5004;4	missense	0	NM_014631	SH3PXD2A	105353784	105615164	-	CGT	TGT	Arg	Cys	p.R761C	1105	e14	14	0	0	SNV
SJMPAL041122	SJMPAL041122_D4	10	105362610	G	A	105362610	738.77	50	25	25	60	0.50	59	2	35|36	rs200938753	5004;4	missense	0	NM_014631	SH3PXD2A	105353784	105615164	-	CGT	TGT	Arg	Cys	p.R761C	1105	e14	14	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	10	106019426	A	G	106019426	1737.77	336	250	86	58.48	0.26	36	0	0	NA	0	missense	0	NM_004832	GSTO1	106014468	106027222	+	CAG	CGG	Gln	Arg	p.Q79R	241	e3	6	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	10	115439571	C	A	115439571	111.77	10	5	5	60	0.50	12	0	0	NA	0	missense	0	NM_001267057	CASP7	115439428	115490668	+	CCG	ACG	Pro	Thr	p.P20T	388	e1	7	0	0	SNV
SJMPAL017975	SJMPAL017975_D3	10	115439571	C	A	115439571	61.77	6	2	4	60	0.67	12	0	0	NA	0	missense	0	NM_001267057	CASP7	115439428	115490668	+	CCG	ACG	Pro	Thr	p.P20T	388	e1	7	0	0	SNV
SJMPAL042943	SJMPAL042943_D2	10	116919911	G	A	116919911	560.77	44	24	20	60	0.45	50	1	35	NA	0	missense	0	NM_207303	ATRNL1	116853124	117708509	+	GGG	AGG	Gly	Arg	p.G314R	1379	e6	29	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	10	121689902	T	C	121689902	182.77	108	91	17	60	0.16	165	0	0	NA	0	missense	0	NM_007190	SEC23IP	121652085	121704170	+	GTT	GCT	Val	Ala	p.V844A	1000	e15	19	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	10	122348928	C	A	122348928	30.77	113	103	10	60	0.09	28	0	0	NA	0	missense	0	NM_001030059	PPAPDC1A	122216466	122349367	+	CCA	ACA	Pro	Thr	p.P244T	271	e7	7	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	10	124352063	C	T	124352063	1658.77	183	108	75	55.93	0.41	184	2	8|38	NA	0	missense	0	NM_007329	DMBT1	124320181	124403252	+	CTC	TTC	Leu	Phe	p.L818F	2413	e20	53	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL046470	SJMPAL046470_D2	10	134916210	G	A	134916210	219.77	41	29	12	60	0.29	7	0	0	NA	0	missense	0	NM_001083909	GPR123	134901508	134945179	+	GTG	ATG	Val	Met	p.V89M	560	e5	7	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	10	134916210	G	A	134916210	98.77	34	27	7	60	0.21	7	0	0	NA	0	missense	0	NM_001083909	GPR123	134901508	134945179	+	GTG	ATG	Val	Met	p.V89M	560	e5	7	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	11	617964	C	T	617964	679.77	36	14	22	60	0.61	55	1	35	NA	0	missense	0	NM_021924	CDHR5	616565	625067	-	GGC	GAC	Gly	Asp	p.G703D	845	e14	15	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	11	617964	C	T	617964	626.77	47	23	23	60	0.49	55	1	35	NA	0	missense	0	NM_021924	CDHR5	616565	625067	-	GGC	GAC	Gly	Asp	p.G703D	845	e14	15	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	11	8705624	A	G	8705624	910.77	81	41	40	59.74	0.49	62	0	0	NA	0	missense	0	NM_000990	RPL27A	8703995	8711419	+	AAA	GAA	Lys	Glu	p.K47E	148	e3	5	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	11	8705624	A	G	8705624	589.77	51	28	23	59.74	0.45	62	0	0	NA	0	missense	0	NM_000990	RPL27A	8703995	8711419	+	AAA	GAA	Lys	Glu	p.K47E	148	e3	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	11	8969946	T	C	8969946	158.77	85	70	15	60	0.18	80	0	0	NA	0	missense	0	NM_020644	TMEM9B	8968748	8986320	-	GAA	GGA	Glu	Gly	p.E173G	198	e5	5	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	11	9430066	A	G	9430066	445.77	36	15	21	60	0.58	32	0	0	NA	0	missense	0	NM_006391	IPO7	9406169	9469674	+	TAT	TGT	Tyr	Cys	p.Y67C	1038	e3	25	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL017976	SJMPAL017976_D3	11	9430066	A	G	9430066	550.77	36	18	18	60	0.50	32	0	0	NA	0	missense	0	NM_006391	IPO7	9406169	9469674	+	TAT	TGT	Tyr	Cys	p.Y67C	1038	e3	25	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL017976	SJMPAL017976_D4	11	9430066	A	G	9430066	205.77	44	33	11	60	0.25	32	0	0	NA	0	missense	0	NM_006391	IPO7	9406169	9469674	+	TAT	TGT	Tyr	Cys	p.Y67C	1038	e3	25	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL012422	SJMPAL012422_D2	11	10500225	A	G	10500225	2475.77	189	100	89	60	0.47	122	0	0	NA	0	missense	0	NM_000480	AMPD3	10472224	10529126	+	TAT	TGT	Tyr	Cys	p.Y134C	776	e3	15	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	11	10500225	A	G	10500225	2241.77	162	82	80	60	0.49	122	0	0	NA	0	missense	0	NM_000480	AMPD3	10472224	10529126	+	TAT	TGT	Tyr	Cys	p.Y134C	776	e3	15	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	11	10500225	A	G	10500225	854.77	67	31	35	60	0.52	122	0	0	NA	0	missense	0	NM_000480	AMPD3	10472224	10529126	+	TAT	TGT	Tyr	Cys	p.Y134C	776	e3	15	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	11	14380349	C	G	14380349	157.77	31	21	9	59.6	0.29	16	0	0	NA	0	missense	0	NM_012250	RRAS2	14299466	14380730	-	GGC	GCC	Gly	Ala	p.G23A	204	e1	6	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	11	15267534	G	A	15267534	585.77	61	36	25	60	0.41	94	2	0|64	NA	0	missense	0	NM_001031853	INSC	15133970	15268756	+	CGG	CAG	Arg	Gln	p.R563Q	579	e13	13	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	11	15267534	G	A	15267534	397.77	45	29	16	60	0.36	94	2	0|64	NA	0	missense	0	NM_001031853	INSC	15133970	15268756	+	CGG	CAG	Arg	Gln	p.R563Q	579	e13	13	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	11	15267534	G	A	15267534	914.77	68	33	35	60	0.51	94	2	0|64	NA	0	missense	0	NM_001031853	INSC	15133970	15268756	+	CGG	CAG	Arg	Gln	p.R563Q	579	e13	13	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	11	16205462	GTGCTGCTGTTGCAGAAGT	G	16205480	13151.73	232	139	72	60.23	0.31	345	2	NA	NA	0	in-frame_del	0	NM_001145819	SOX6	15987995	16424413	-	CAA	CAA	Gln	Gln	p.Q256del	841	e6	16	0	0	INDEL
SJMPAL011911	SJMPAL011911_D2	11	16205462	GTGCTGCTGTTGCAGAAGT	G	16205480	18747.73	280	146	97	60.08	0.35	345	2	NA	NA	0	in-frame_del	0	NM_001145819	SOX6	15987995	16424413	-	CAA	CAA	Gln	Gln	p.Q256del	841	e6	16	0	0	INDEL
SJMPAL041120	SJMPAL041120_D5	11	21250957	C	A	21250957	1072.77	164	112	52	60	0.32	173	1	38	NA	0	nonsense	0	NM_001288713	NELL1	20691097	21597229	+	TGC	TGA	Cys	*	p.C530*	838	e15	21	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	11	24936040	C	A	24936040	1006.77	79	42	37	60	0.47	34	0	0	NA	0	missense	0	NM_001009909	LUZP2	24518516	25104186	+	CAG	AAG	Gln	Lys	p.Q160K	346	e7	12	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	11	24936040	C	A	24936040	703.77	88	61	27	60	0.31	34	0	0	NA	0	missense	0	NM_001009909	LUZP2	24518516	25104186	+	CAG	AAG	Gln	Lys	p.Q160K	346	e7	12	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	11	30033103	C	A	30033103	263.77	31	19	12	60	0.39	30	0	0	NA	0	nonsense	0	NM_002233	KCNA4	30031288	30038577	-	GAA	TAA	Glu	*	p.E375*	653	e2	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D3	11	30033103	C	A	30033103	967.77	71	33	38	60	0.54	30	0	0	NA	0	nonsense	0	NM_002233	KCNA4	30031288	30038577	-	GAA	TAA	Glu	*	p.E375*	653	e2	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D4	11	30033103	C	A	30033103	398.77	39	23	16	60	0.41	30	0	0	NA	0	nonsense	0	NM_002233	KCNA4	30031288	30038577	-	GAA	TAA	Glu	*	p.E375*	653	e2	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL005001	SJMPAL005001_R4	11	55406690	C	T	55406690	1312.77	122	74	45	60	0.37	24	0	0	NA	0	missense	0	NM_001004124	OR4P4	55405834	55406772	+	ACG	ATG	Thr	Met	p.T286M	312	e1	1	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	11	56756772	G	T	56756772	763.77	69	37	32	60	0.46	48	0	0	NA	0	missense	0	NM_001005323	OR5AK2	56756389	56757318	+	AAG	AAT	Lys	Asn	p.K128N	309	e1	1	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	11	61647596	G	C	61647596	359.77	38	21	17	60	0.45	55	0	0	NA	0	missense	0	NM_021727	FADS3	61640995	61659017	-	CTC	GTC	Leu	Val	p.L81V	445	e2	12	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	11	61647596	G	C	61647596	561.77	66	43	23	60	0.35	55	0	0	NA	0	missense	0	NM_021727	FADS3	61640995	61659017	-	CTC	GTC	Leu	Val	p.L81V	445	e2	12	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	11	61647596	G	C	61647596	605.77	46	22	24	60	0.52	55	0	0	NA	0	missense	0	NM_021727	FADS3	61640995	61659017	-	CTC	GTC	Leu	Val	p.L81V	445	e2	12	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	11	62520632	C	CT	62520632	137.73	77	63	10	60	0.13	135	0	NA	NA	0	frame_shift_ins	0	NM_024784	ZBTB3	62518435	62521656	-	GGG	GGG	Gly	Gly	p.G219fs	574	e2	2	0	0	INDEL
SJMPAL042792	SJMPAL042792_D2	11	62677791	C	T	62677791	732.77	69	39	29	60	0.42	36	0	0	NA	0	missense	0	NM_000738	CHRM1	62676151	62689012	-	CGC	CAC	Arg	His	p.R261H	460	e2	2	0	0	SNV
SJMPAL042792	SJMPAL042792_D3	11	62677791	C	T	62677791	372.77	38	20	18	60	0.47	36	0	0	NA	0	missense	0	NM_000738	CHRM1	62676151	62689012	-	CGC	CAC	Arg	His	p.R261H	460	e2	2	0	0	SNV
SJMPAL042792	SJMPAL042792_D4	11	62677791	C	T	62677791	568.77	33	12	21	60	0.64	36	0	0	NA	0	missense	0	NM_000738	CHRM1	62676151	62689012	-	CGC	CAC	Arg	His	p.R261H	460	e2	2	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	11	64066881	C	T	64066881	101.77	70	59	11	60	0.16	45	0	0	NA	0	nonsense	0	NM_033310	KCNK4	64058793	64067503	+	CGA	TGA	Arg	*	p.R289*	393	e7	7	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	11	64569560	T	C	64569560	71.77	53	44	9	60	0.17	66	0	0	NA	0	missense	0	NM_004579	MAP4K2	64556609	64570713	-	TAC	TGC	Tyr	Cys	p.Y115C	820	e5	32	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	11	64877199	T	G	64877199	540.77	41	19	22	60	0.54	12	0	0	NA	0	missense	0	NM_013265	VPS51	64863587	64879332	+	GTG	GGG	Val	Gly	p.V561G	782	e7	10	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	11	64877199	T	G	64877199	308.77	20	9	10	60	0.50	12	0	0	NA	0	missense	0	NM_013265	VPS51	64863587	64879332	+	GTG	GGG	Val	Gly	p.V561G	782	e7	10	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	11	64877199	T	G	64877199	278.77	21	10	11	60	0.52	12	0	0	NA	0	missense	0	NM_013265	VPS51	64863587	64879332	+	GTG	GGG	Val	Gly	p.V561G	782	e7	10	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	11	66838927	G	A	66838927	191.77	17	10	7	60	0.41	15	0	0	NA	0	missense	0	NM_014578	RHOD	66824289	66839488	+	GTG	ATG	Val	Met	p.V163M	210	e5	5	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	11	66838927	G	A	66838927	324.77	24	13	11	60	0.46	15	0	0	NA	0	missense	0	NM_014578	RHOD	66824289	66839488	+	GTG	ATG	Val	Met	p.V163M	210	e5	5	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	11	66838927	G	A	66838927	150.77	8	3	5	60	0.63	15	0	0	NA	0	missense	0	NM_014578	RHOD	66824289	66839488	+	GTG	ATG	Val	Met	p.V163M	210	e5	5	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	11	71209575	G	A	71209575	232.77	36	26	10	60	0.28	38	0	0	NA	0	splice	0	NM_018161	NADSYN1	71164217	71212581	+	CAG	0	Gln	0	p.Q690sp	706	e20+1	21	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	11	71209575	G	A	71209575	523.77	39	21	18	60	0.46	38	0	0	NA	0	splice	0	NM_018161	NADSYN1	71164217	71212581	+	CAG	0	Gln	0	p.Q690sp	706	e20+1	21	0	0	SNV
SJMPAL016342	SJMPAL016342_R1	11	71249251	T	TGGC	71249251	435.73	223	199	19	57.77	0.09	126	0	NA	NA	0	in-frame_ins	0	NM_021046	KRTAP5-8	71249071	71250253	+	TGT	TGT	Cys	Cys	p.C50ins	187	e1	1	0	0	INDEL
SJMPAL040034	SJMPAL040034_D2	11	71711556	AGT	A	71711558	2844.73	130	56	64	59.88	0.49	89	0	NA	NA	0	frame_shift_del	0	NM_005699	IL18BP	71710109	71713965	+	CAG	CAG	Gln	Gln	p.Q63fs	199	e2	4	0	0	INDEL
SJMPAL040034	SJMPAL040034_D3	11	71711556	AGT	A	71711558	2098.73	153	98	51	60	0.33	89	0	NA	NA	0	frame_shift_del	0	NM_005699	IL18BP	71710109	71713965	+	CAG	CAG	Gln	Gln	p.Q63fs	199	e2	4	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	11	73803528	T	C	73803528	372.77	91	68	21	60	0.23	104	0	0	NA	0	missense	0	NM_001286577	C2CD3	73723759	73882064	-	ATA	ATG	Ile	Met	p.I1150M	2353	e19	33	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	11	82443826	C	T	82443826	NA	6	3	3	NA	0.50	2	0	0	NA	0	missense	0	NM_175885	FAM181B	82443046	82444906	-	GGA	AGA	Gly	Arg	p.G316R	426	e1	1	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	11	82868628	CTT	CGATCTCC	82868630	1595.73	69	36	28	60	0.41	107	0	NA	NA	0	frame_shift_ins	0	NM_015885	PCF11	82868137	82896835	+	CCC	CCC	Pro	Pro	p.P49fs	1555	e1	16	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	11	84822772	T	A	84822772	54.77	89	79	10	60	0.11	44	0	0	NA	0	missense	0	NM_001142699	DLG2	83166056	85338314	-	CAA	CTA	Gln	Leu	p.Q97L	975	e6	28	0	0	SNV
SJMPAL012422	SJMPAL012422_D2	11	100820654	A	G	100820654	1255.77	78	29	49	60	0.63	34	0	0	NA	0	missense	0	NM_152432	ARHGAP42	100558407	100861656	+	ACT	GCT	Thr	Ala	p.T377A	874	e12	24	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	11	100820654	A	G	100820654	843.77	75	36	38	60	0.51	34	0	0	NA	0	missense	0	NM_152432	ARHGAP42	100558407	100861656	+	ACT	GCT	Thr	Ala	p.T377A	874	e12	24	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	11	100820654	A	G	100820654	603.77	64	37	27	60	0.42	34	0	0	NA	0	missense	0	NM_152432	ARHGAP42	100558407	100861656	+	ACT	GCT	Thr	Ala	p.T377A	874	e12	24	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	11	100999689	C	T	100999689	110.77	17	12	5	60	0.29	17	0	0	rs547307017	5007;1	missense	0	NM_000926	PGR	100900355	101000544	-	GGG	GAG	Gly	Glu	p.G38E	933	e1	8	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	11	100999689	C	T	100999689	110.77	21	15	6	60	0.29	17	0	0	rs547307017	5007;1	missense	0	NM_000926	PGR	100900355	101000544	-	GGG	GAG	Gly	Glu	p.G38E	933	e1	8	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	11	103797821	C	T	103797821	815.77	68	40	28	60	0.41	96	0	0	rs202233663	1322.680054;1.324	missense	0	NM_025208	PDGFD	103777914	104035027	-	CGT	CAT	Arg	His	p.R269H	370	e6	7	16	Confirm(16)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	11	103797821	C	T	103797821	863.77	87	53	34	60	0.39	96	0	0	rs202233663	1322.680054;1.324	missense	0	NM_025208	PDGFD	103777914	104035027	-	CGT	CAT	Arg	His	p.R269H	370	e6	7	16	Confirm(16)Report(0)Unknown(0)	SNV
SJMPAL012424	SJMPAL012424_D2	11	105774590	C	A	105774590	1288.77	137	77	60	60	0.44	114	0	0	NA	0	missense	0	NM_000829	GRIA4	105480800	105852819	+	TTC	TTA	Phe	Leu	p.F312L	902	e8	17	0	0	SNV
SJMPAL012424	SJMPAL012424_D3	11	105774590	C	A	105774590	657.77	97	63	34	59.92	0.35	114	0	0	NA	0	missense	0	NM_000829	GRIA4	105480800	105852819	+	TTC	TTA	Phe	Leu	p.F312L	902	e8	17	0	0	SNV
SJMPAL040031	SJMPAL040031_D2	11	114183029	C	A	114183029	806.77	93	58	35	60	0.38	95	0	0	NA	0	missense	0	NM_006169	NNMT	114166535	114183238	+	CAG	AAG	Gln	Lys	p.Q209K	264	e3	3	0	0	SNV
SJMPAL040031	SJMPAL040031_D3	11	114183029	C	A	114183029	57.77	107	98	9	60	0.08	95	0	0	NA	0	missense	0	NM_006169	NNMT	114166535	114183238	+	CAG	AAG	Gln	Lys	p.Q209K	264	e3	3	0	0	SNV
SJMPAL040031	SJMPAL040031_D4	11	114183029	C	A	114183029	1048.77	78	40	38	60	0.49	95	0	0	NA	0	missense	0	NM_006169	NNMT	114166535	114183238	+	CAG	AAG	Gln	Lys	p.Q209K	264	e3	3	0	0	SNV
SJMPAL040031	SJMPAL040031_D5	11	114183029	C	A	114183029	1435.77	139	84	55	60	0.40	95	0	0	NA	0	missense	0	NM_006169	NNMT	114166535	114183238	+	CAG	AAG	Gln	Lys	p.Q209K	264	e3	3	0	0	SNV
SJMPAL046466	SJMPAL046466_D2	11	115085405	G	A	115085405	2604.77	216	118	97	60	0.45	202	10	34|35|36|36|36|38|38|41|41|41	NA	0	missense	0	NM_001301043	CADM1	115044345	115375241	-	ACA	ATA	Thr	Ile	p.T306I	471	e7	12	0	0	SNV
SJMPAL046466	SJMPAL046466_D4	11	115085405	G	A	115085405	NA	206	193	13	NA	0.06	202	10	34|35|36|36|36|38|38|41|41|41	NA	0	missense	0	NM_001301043	CADM1	115044345	115375241	-	ACA	ATA	Thr	Ile	p.T306I	471	e7	12	0	0	SNV
SJMLL003311	SJMLL003311_D3	11	119148884	TGAATTATAC	T	119148893	488.73	106	96	8	60	0.08	103	0	NA	NA	0	in-frame_del	0	NM_005188	CBL	119076986	119178859	+	TAT	TAT	Tyr	Tyr	p.Y368del	906	e8	16	0	0	INDEL
SJMPAL041119	SJMPAL041119_D3	11	119181481	G	A	119181481	516.77	51	33	18	60	0.35	51	0	0	NA	0	missense	0	NM_006500	MCAM	119179234	119187840	-	TCA	TTA	Ser	Leu	p.S593L	646	e14	16	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	11	119181481	G	A	119181481	NA	23	20	3	NA	0.13	51	0	0	NA	0	missense	0	NM_006500	MCAM	119179234	119187840	-	TCA	TTA	Ser	Leu	p.S593L	646	e14	16	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	11	119216756	G	A	119216756	1552.77	268	185	83	60	0.31	29	0	0	NA	0	nonsense	0	NM_031433	MFRP	119209644	119217383	-	CAG	TAG	Gln	*	p.Q91*	579	e3	15	0	0	SNV
SJMPAL040025	SJMPAL040025_D3	11	121038845	G	A	121038845	447.77	169	143	26	60	0.15	230	0	0	rs371520052	0	missense	0	NM_005422	TECTA	120973375	121061515	+	CGC	CAC	Arg	His	p.R1890H	2155	e18	23	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL040025	SJMPAL040025_D2	11	121038845	G	A	121038845	NA	301	292	9	NA	0.03	230	0	0	rs371520052	0	missense	0	NM_005422	TECTA	120973375	121061515	+	CGC	CAC	Arg	His	p.R1890H	2155	e18	23	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL011912	SJMPAL011912_D2	11	121986387	G	A	121986387	2012.77	161	82	79	60	0.49	226	1	37	NA	0	missense	0	NM_001001786	BLID	121986062	121986923	-	CCT	TCT	Pro	Ser	p.P82S	108	e1	1	0	0	SNV
SJMPAL046469	SJMPAL046469_D1	11	122678883	A	G	122678883	742.77	92	54	38	60	0.41	153	0	0	NA	0	missense	0	NM_032873	UBASH3B	122526398	122685187	+	AAG	AGG	Lys	Arg	p.K604R	649	e13	14	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	11	123909297	G	A	123909297	925.77	100	61	39	59.65	0.39	40	0	0	NA	0	missense	0	NM_001004463	OR10G7	123908773	123909708	-	CGC	TGC	Arg	Cys	p.R138C	311	e1	1	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL046470	SJMPAL046470_D3	11	123909297	G	A	123909297	1311.77	120	70	50	58.68	0.42	40	0	0	NA	0	missense	0	NM_001004463	OR10G7	123908773	123909708	-	CGC	TGC	Arg	Cys	p.R138C	311	e1	1	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL040034	SJMPAL040034_D2	11	124180083	GGT	G	124180085	2165.73	153	72	55	60	0.36	11	0	NA	NA	0	frame_shift_del	0	NM_001002917	OR8D1	124179736	124180662	-	CAC	CAC	His	His	p.H193fs	308	e1	1	0	0	INDEL
SJMPAL040034	SJMPAL040034_D3	11	124180083	GGT	G	124180085	2531.73	178	82	64	60	0.36	11	0	NA	NA	0	frame_shift_del	0	NM_001002917	OR8D1	124179736	124180662	-	CAC	CAC	His	His	p.H193fs	308	e1	1	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	11	124518016	C	G	124518016	2774.77	291	193	98	60	0.34	69	1	41	NA	0	missense	0	NM_170601	SIAE	124505685	124543777	-	GCC	CCC	Ala	Pro	p.A260P	523	e6	10	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	11	130319731	C	A	130319731	140.77	135	120	15	60	0.11	33	0	0	NA	0	missense	0	NM_139055	ADAMTS15	130318869	130346539	+	ACG	AAG	Thr	Lys	p.T288K	950	e1	8	0	0	SNV
SJMPAL017978	SJMPAL017978_D3	11	134237185	C	T	134237185	567.77	67	44	23	60	0.34	83	0	0	rs147686340	4543;1	missense	0	NM_138342	GLB1L2	134201768	134246218	+	ACG	ATG	Thr	Met	p.T280M	636	e9	20	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017978	SJMPAL017978_D4	11	134237185	C	T	134237185	98.77	39	33	6	60	0.15	83	0	0	rs147686340	4543;1	missense	0	NM_138342	GLB1L2	134201768	134246218	+	ACG	ATG	Thr	Met	p.T280M	636	e9	20	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017978	SJMPAL017978_D2	11	134237185	C	T	134237185	NA	37	33	4	NA	0.11	83	0	0	rs147686340	4543;1	missense	0	NM_138342	GLB1L2	134201768	134246218	+	ACG	ATG	Thr	Met	p.T280M	636	e9	20	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL012425	SJMPAL012425_D2	12	3788161	A	T	3788161	158.77	21	10	9	60	0.43	36	1	38	NA	0	missense	0	NM_001144958	CRACR2A	3724494	3862366	-	GAT	GAA	Asp	Glu	p.D148E	731	e6	20	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	12	3788161	A	T	3788161	247.77	18	9	9	60	0.50	36	1	38	NA	0	missense	0	NM_001144958	CRACR2A	3724494	3862366	-	GAT	GAA	Asp	Glu	p.D148E	731	e6	20	0	0	SNV
SJMLL003311	SJMLL003311_D3	12	6128005	G	A	6128005	3761.77	288	145	141	50.56	0.49	87	1	35	NA	0	missense	0	NM_000552	VWF	6058040	6233836	-	CGG	TGG	Arg	Trp	p.R1527W	2813	e28	52	0	0	SNV
SJMLL003311	SJMLL003311_D4	12	6128005	G	A	6128005	3275.77	245	111	134	50.87	0.55	87	1	35	NA	0	missense	0	NM_000552	VWF	6058040	6233836	-	CGG	TGG	Arg	Trp	p.R1527W	2813	e28	52	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	12	7559367	C	T	7559367	3548.77	221	101	119	60	0.54	196	1	38	NA	0	nonsense	0	NM_001297650	CD163L1	7507556	7596781	-	TGG	TAG	Trp	*	p.W293*	1463	e5	20	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	12	7559367	C	T	7559367	4198.77	279	139	140	60	0.50	196	1	38	NA	0	nonsense	0	NM_001297650	CD163L1	7507556	7596781	-	TGG	TAG	Trp	*	p.W293*	1463	e5	20	0	0	SNV
SJMPAL040035	SJMPAL040035_D2	12	32136665	CCTT	C	32136668	2017.73	125	67	40	60.26	0.32	53	1	NA	NA	0	in-frame_del	0	NM_018169	KIAA1551	32112353	32146043	+	CCT	CCT	Pro	Pro	p.P926del	1747	e4	6	0	0	INDEL
SJMPAL040035	SJMPAL040035_D3	12	32136665	CCTT	C	32136668	1718.73	117	61	34	60.18	0.29	53	1	NA	NA	0	in-frame_del	0	NM_018169	KIAA1551	32112353	32146043	+	CCT	CCT	Pro	Pro	p.P926del	1747	e4	6	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	12	50388240	A	G	50388240	72.77	94	84	10	60	0.11	116	0	0	NA	0	missense	0	NM_001126103	RACGAP1	50382945	50419307	-	GTT	GCT	Val	Ala	p.V366A	632	e13	19	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	12	51126320	G	A	51126320	751.77	48	24	24	60	0.50	38	0	0	NA	0	splice	0	NM_173602	DIP2B	50898768	51142450	+	CAG	0	Gln	0	p.Q1327sp	1576	e32+1	38	0	0	SNV
SJMPAL017975	SJMPAL017975_D3	12	51126320	G	A	51126320	358.77	30	17	13	59.61	0.43	38	0	0	NA	0	splice	0	NM_173602	DIP2B	50898768	51142450	+	CAG	0	Gln	0	p.Q1327sp	1576	e32+1	38	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	12	51252647	A	G	51252647	402.77	112	88	24	60	0.21	169	0	0	NA	0	missense	0	NM_182559	TMPRSS12	51236701	51281663	+	AAA	GAA	Lys	Glu	p.K155E	348	e3	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	12	53294963	C	T	53294963	1978.77	184	103	81	59.8	0.44	263	0	0	rs147715492	0	missense	0	NM_001256282	KRT8	53290971	53320253	-	GAA	AAA	Glu	Lys	p.E220K	511	e4	9	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	12	81102357	G	A	81102357	553.77	40	21	19	60	0.48	83	0	0	NA	0	missense	0	NM_002469	MYF6	81101408	81103256	+	GAT	AAT	Asp	Asn	p.D192N	242	e2	3	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	12	81102357	G	A	81102357	600.77	41	20	21	60	0.51	83	0	0	NA	0	missense	0	NM_002469	MYF6	81101408	81103256	+	GAT	AAT	Asp	Asn	p.D192N	242	e2	3	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041119	SJMPAL041119_D2	12	94543001	G	A	94543001	35.77	9	6	3	60	0.33	27	0	0	NA	0	missense	0	NM_005761	PLXNC1	94542499	94701451	+	GGC	GAC	Gly	Asp	p.G85D	1568	e1	31	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	12	94543001	G	A	94543001	230.77	12	4	8	60	0.67	27	0	0	NA	0	missense	0	NM_005761	PLXNC1	94542499	94701451	+	GGC	GAC	Gly	Asp	p.G85D	1568	e1	31	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	12	106824249	G	A	106824249	527.77	162	132	30	60	0.19	246	0	0	NA	0	missense	0	NM_018082	POLR3B	106751436	106903976	+	GAG	AAG	Glu	Lys	p.E488K	1133	e14	28	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	12	108600156	G	A	108600156	2792.77	267	148	119	60	0.45	287	0	0	rs191412045	5006;2	missense	0	NM_014653	WSCD2	108523248	108644313	+	CGT	CAT	Arg	His	p.R158H	565	e3	9	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	12	109725289	C	T	109725289	170.77	19	12	7	60	0.37	22	0	0	NA	0	missense	0	NM_213596	FOXN4	109715783	109747025	-	CGG	CAG	Arg	Gln	p.R170Q	517	e6	10	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	12	109725289	C	T	109725289	170.77	15	8	7	60	0.47	22	0	0	NA	0	missense	0	NM_213596	FOXN4	109715783	109747025	-	CGG	CAG	Arg	Gln	p.R170Q	517	e6	10	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	12	111082800	G	A	111082800	1906.77	261	185	76	60	0.29	26	0	0	rs369759157	5007;1	missense	0	NM_001082538	TCTN1	111051832	111086935	+	GTA	ATA	Val	Ile	p.V454I	592	e12	15	0	0	SNV
SJMPAL040024	SJMPAL040024_D3	12	117287159	G	A	117287159	362.77	100	78	22	60	0.22	35	1	38	NA	0	missense	0	NM_001109903	RNFT2	117176096	117291436	+	CGT	CAT	Arg	His	p.R414H	444	e11	12	0	0	SNV
SJMPAL040024	SJMPAL040024_D2	12	117287159	G	A	117287159	NA	47	41	6	NA	0.13	35	1	38	NA	0	missense	0	NM_001109903	RNFT2	117176096	117291436	+	CGT	CAT	Arg	His	p.R414H	444	e11	12	0	0	SNV
SJMPAL046469	SJMPAL046469_D1	12	117768513	C	T	117768513	646.77	45	14	31	60	0.69	87	0	0	NA	0	missense	0	NM_001204218	NOS1	117645947	117799607	-	CGG	CAG	Arg	Gln	p.R121Q	1468	e2	30	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	12	122265684	A	G	122265684	67.77	107	97	10	60	0.09	170	0	0	NA	0	missense	0	NM_015048	SETD1B	122242638	122270562	+	GAC	GGC	Asp	Gly	p.D1795G	1923	e15	17	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	12	123805364	C	CT	123805364	249.73	29	16	12	60	0.41	66	1	NA	NA	0	frame_shift_ins	0	NM_001167856	SBNO1	123773656	123834988	-	AAG	AAG	Lys	Lys	p.K791fs	1393	e17	31	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	12	124422132	A	T	124422132	116.77	78	68	9	60	0.12	131	0	0	NA	0	missense	0	NM_025140	CCDC92	124420955	124457163	-	TAC	AAC	Tyr	Asn	p.Y157N	331	e5	5	0	0	SNV
SJMPAL017973	SJMPAL017973_D2	12	130923011	C	T	130923011	303.77	32	18	14	60	0.44	32	0	0	rs148796071	4440;4	missense	0	NM_015347	RIMBP2	130880681	131002410	-	GCC	ACC	Ala	Thr	p.A502T	1052	e9	19	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL017973	SJMPAL017973_D3	12	130923011	C	T	130923011	NA	42	38	4	NA	0.10	32	0	0	rs148796071	4440;4	missense	0	NM_015347	RIMBP2	130880681	131002410	-	GCC	ACC	Ala	Thr	p.A502T	1052	e9	19	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	12	132905752	A	G	132905752	104.77	33	24	6	60	0.18	32	0	0	NA	0	missense	0	NM_001122636	GALNT9	132680917	132905905	-	GTG	GCG	Val	Ala	p.V13A	603	e1	11	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	13	24797237	G	A	24797237	204.77	129	112	17	60	0.13	160	0	0	NA	0	missense	0	NM_001286792	SPATA13	24553765	24881212	+	GGT	GAT	Gly	Asp	p.G119D	1339	e4	15	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	13	28830630	C	T	28830630	1113.77	83	42	40	60	0.48	69	1	38	NA	0	missense	0	NM_175854	PAN3	28712643	28869475	+	ACG	ATG	Thr	Met	p.T401M	887	e7	19	3	Confirm(3)Report(0)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D2	13	37453546	C	T	37453546	368.77	101	82	19	60	0.19	53	2	35|41	NA	0	missense	0	NM_001127217	SMAD9	37418968	37494409	-	CGC	CAC	Arg	His	p.R94H	467	e2	7	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D3	13	37453546	C	T	37453546	468.77	121	99	21	60	0.17	53	2	35|41	NA	0	missense	0	NM_001127217	SMAD9	37418968	37494409	-	CGC	CAC	Arg	His	p.R94H	467	e2	7	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D4	13	37453546	C	T	37453546	468.77	82	63	19	60	0.23	53	2	35|41	NA	0	missense	0	NM_001127217	SMAD9	37418968	37494409	-	CGC	CAC	Arg	His	p.R94H	467	e2	7	4	Confirm(2)Report(2)Unknown(0)	SNV
SJMPAL041117	SJMPAL041117_D2	13	79175846	T	TGGAAGA	79175846	533.73	58	48	8	60	0.14	113	0	NA	NA	0	in-frame_ins	0	NM_006237	POU4F1	79173230	79177695	-	ATG	ATG	Met	Met	p.M322ins	419	e2	2	0	0	INDEL
SJMPAL041117	SJMPAL041117_D3	13	79175846	T	TGGAAGA	79175846	924.73	43	30	12	60	0.28	113	0	NA	NA	0	in-frame_ins	0	NM_006237	POU4F1	79173230	79177695	-	ATG	ATG	Met	Met	p.M322ins	419	e2	2	0	0	INDEL
SJMPAL012425	SJMPAL012425_D2	13	86369412	G	A	86369412	496.77	38	20	18	60	0.47	53	0	0	rs530177141	5002;6	missense	0	NM_032229	SLITRK6	86366922	86373483	-	ACG	ATG	Thr	Met	p.T411M	841	e2	2	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL012425	SJMPAL012425_D4	13	86369412	G	A	86369412	534.77	42	24	18	60	0.43	53	0	0	rs530177141	5002;6	missense	0	NM_032229	SLITRK6	86366922	86373483	-	ACG	ATG	Thr	Met	p.T411M	841	e2	2	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL044956	SJMPAL044956_D1	13	95715026	T	TCAGA	95715026	152.73	197	185	11	60.11	0.06	275	0	NA	NA	0	frame_shift_ins	0	NM_005845	ABCC4	95672083	95953700	-	ATT	ATT	Ile	Ile	p.I1100fs	1325	e26	31	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	13	114541078	C	T	114541078	184.77	45	34	11	60	0.24	70	0	0	rs193064751	5007;1	missense	0	NM_000820	GAS6	114523522	114567076	-	GGC	AGC	Gly	Ser	p.G185S	678	e6	15	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	13	114541078	C	T	114541078	347.77	25	12	13	60	0.52	70	0	0	rs193064751	5007;1	missense	0	NM_000820	GAS6	114523522	114567076	-	GGC	AGC	Gly	Ser	p.G185S	678	e6	15	0	0	SNV
SJMPAL044956	SJMPAL044956_D1	14	21558757	C	T	21558757	399.77	29	14	15	60	0.52	33	3	0|41|78	NA	0	missense	0	NM_016423	ZNF219	21558205	21566808	-	GGG	AGG	Gly	Arg	p.G703R	722	e5	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	14	23567003	T	C	23567003	218.77	241	216	25	60	0.10	405	0	0	NA	0	missense	0	NM_017924	C14orf119	23564683	23569665	+	TTT	CTT	Phe	Leu	p.F46L	140	e2	2	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	14	23777295	T	C	23777295	146.77	82	71	11	60	0.13	122	0	0	NA	0	missense	0	NM_001199864	BCL2L2-PABPN1	23775971	23795394	+	TGT	CGT	Cys	Arg	p.C107R	333	e3	9	0	0	SNV
SJMPAL012424	SJMPAL012424_D2	14	24653891	C	T	24653891	384.77	29	15	14	60	0.48	23	0	0	rs200959131	829.169983;0.83	missense	0	NM_024658	IPO4	24649425	24658124	-	CGT	CAT	Arg	His	p.R534H	1081	e16	30	0	0	SNV
SJMPAL012424	SJMPAL012424_D3	14	24653891	C	T	24653891	81.77	13	7	6	60	0.46	23	0	0	rs200959131	829.169983;0.83	missense	0	NM_024658	IPO4	24649425	24658124	-	CGT	CAT	Arg	His	p.R534H	1081	e16	30	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	14	35515695	C	T	35515695	113.77	25	19	6	60	0.24	15	0	0	NA	0	missense	0	NM_173607	FAM177A1	35515610	35552589	+	ACC	ATC	Thr	Ile	p.T9I	236	e1	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	14	45645637	T	C	45645637	139.77	69	59	10	60	0.14	91	0	0	NA	0	missense	0	NM_020937	FANCM	45605136	45670093	+	TTA	TCA	Leu	Ser	p.L1227S	2048	e14	23	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	14	47120735	G	A	47120735	1896.77	164	90	74	60	0.45	150	0	0	NA	0	missense	0	NM_080746	RPL10L	47120220	47121028	-	CGT	TGT	Arg	Cys	p.R69C	214	e1	1	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	14	52171537	C	T	52171537	825.77	105	65	40	60	0.38	76	0	0	NA	0	nonsense	0	NM_001267046	FRMD6	52118576	52197444	+	CGA	TGA	Arg	*	p.R148*	622	e6	14	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	14	52171537	C	T	52171537	539.77	64	42	22	60	0.34	76	0	0	NA	0	nonsense	0	NM_001267046	FRMD6	52118576	52197444	+	CGA	TGA	Arg	*	p.R148*	622	e6	14	0	0	SNV
SJMPAL046471	SJMPAL046471_D2	14	58943884	C	G	58943884	884.77	85	50	35	60	0.41	125	3	0|35|80	NA	0	missense	0	NM_001244189	KIAA0586	58894103	59015549	+	CCA	GCA	Pro	Ala	p.P1010A	1644	e22	34	0	0	SNV
SJMPAL046471	SJMPAL046471_D4	14	58943884	C	G	58943884	940.77	67	36	31	60	0.46	125	3	0|35|80	NA	0	missense	0	NM_001244189	KIAA0586	58894103	59015549	+	CCA	GCA	Pro	Ala	p.P1010A	1644	e22	34	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	14	60063483	C	T	60063483	78.77	84	73	10	60	0.12	96	0	0	NA	0	missense	0	NM_021136	RTN1	60062694	60337557	-	GCT	ACT	Ala	Thr	p.A771T	776	e9	9	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	14	60063483	C	T	60063483	173.77	69	57	12	60	0.17	96	0	0	NA	0	missense	0	NM_021136	RTN1	60062694	60337557	-	GCT	ACT	Ala	Thr	p.A771T	776	e9	9	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	14	70237737	G	C	70237737	37.77	156	143	13	60	0.08	29	0	0	NA	0	missense	0	NM_001039465	SRSF5	70233829	70238722	+	GAC	CAC	Asp	His	p.D156H	272	e7	8	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	14	73739315	C	CT	73739315	187.73	28	13	7	60	0.25	41	0	NA	NA	0	frame_shift_ins	0	NM_173462	PAPLN	73704205	73741347	+	AGC	AGC	Ser	Ser	p.S1233fs	1251	e26	26	0	0	INDEL
SJMPAL046469	SJMPAL046469_D1	14	77872261	CTGAGACAA	CCCCCAACGG	77872269	488.73	70	58	12	60	0.17	128	0	NA	NA	0	frame_shift_ins	0	NM_001113475	NOXRED1	77860365	77889399	-	TTG	TTG	Leu	Leu	p.L298fs	359	e5	6	0	0	INDEL
SJMPAL012419	SJMPAL012419_D2	14	81969117	G	A	81969117	834.77	80	45	35	60	0.44	101	0	0	rs374625468	0	missense	0	NM_005065	SEL1L	81937891	82000205	-	GCG	GTG	Ala	Val	p.A242V	794	e6	21	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	14	81969117	G	A	81969117	1026.77	94	56	38	60	0.40	101	0	0	rs374625468	0	missense	0	NM_005065	SEL1L	81937891	82000205	-	GCG	GTG	Ala	Val	p.A242V	794	e6	21	0	0	SNV
SJMPAL040032	SJMPAL040032_D2	14	86088724	G	A	86088724	1320.77	90	39	51	60	0.57	56	0	0	rs369141502	0	missense	0	NM_013231	FLRT2	85996488	86094270	+	CGG	CAG	Arg	Gln	p.R289Q	660	e2	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D3	14	86088724	G	A	86088724	1045.77	109	68	41	60	0.38	56	0	0	rs369141502	0	missense	0	NM_013231	FLRT2	85996488	86094270	+	CGG	CAG	Arg	Gln	p.R289Q	660	e2	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040032	SJMPAL040032_D4	14	86088724	G	A	86088724	730.77	83	56	27	60	0.33	56	0	0	rs369141502	0	missense	0	NM_013231	FLRT2	85996488	86094270	+	CGG	CAG	Arg	Gln	p.R289Q	660	e2	2	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041120	SJMPAL041120_D5	14	100742831	G	A	100742831	162.77	156	138	18	60	0.12	202	1	10	NA	0	missense	0	NM_003403	YY1	100705102	100745371	+	TGC	TAC	Cys	Tyr	p.C303Y	414	e4	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	14	102548694	T	G	102548694	198.77	99	85	14	58.16	0.14	227	0	0	NA	0	missense	0	NM_001017963	HSP90AA1	102547075	102606086	-	AAA	CAA	Lys	Gln	p.K737Q	854	e11	12	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	14	103336714	T	C	103336714	134.77	129	114	15	60	0.12	196	0	0	NA	0	missense	0	NM_145725	TRAF3	103243816	103377837	+	GTG	GCG	Val	Ala	p.V59A	568	e3	12	0	0	SNV
SJMPAL040036	SJMPAL040036_D3	15	22999552	G	A	22999552	428.77	30	15	15	60	0.50	10	0	0	NA	0	missense	0	NM_014608	CYFIP1	22892649	23003603	+	GTG	ATG	Val	Met	p.V1142M	1253	e29	31	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	15	22999552	G	A	22999552	312.77	37	24	13	60	0.35	10	0	0	NA	0	missense	0	NM_014608	CYFIP1	22892649	23003603	+	GTG	ATG	Val	Met	p.V1142M	1253	e29	31	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	15	22999552	G	A	22999552	455.77	37	20	17	60	0.46	10	0	0	NA	0	missense	0	NM_014608	CYFIP1	22892649	23003603	+	GTG	ATG	Val	Met	p.V1142M	1253	e29	31	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	15	22999552	G	A	22999552	668.77	47	24	23	60	0.49	10	0	0	NA	0	missense	0	NM_014608	CYFIP1	22892649	23003603	+	GTG	ATG	Val	Met	p.V1142M	1253	e29	31	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	15	24921796	C	T	24921796	323.77	40	23	17	60	0.43	56	0	0	NA	0	missense	0	NM_018958	NPAP1	24920541	24928593	+	GCG	GTG	Ala	Val	p.A261V	1156	e1	1	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL011911	SJMPAL011911_D2	15	24921796	C	T	24921796	710.77	40	13	27	60	0.68	56	0	0	NA	0	missense	0	NM_018958	NPAP1	24920541	24928593	+	GCG	GTG	Ala	Val	p.A261V	1156	e1	1	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	15	29409286	G	A	29409286	320.77	125	102	22	60	0.18	236	0	0	NA	0	missense	0	NM_005503	APBA2	29213840	29410516	+	GCC	ACC	Ala	Thr	p.A734T	749	e14	14	0	0	SNV
SJMPAL042792	SJMPAL042792_D2	15	41228732	G	A	41228732	392.77	63	48	15	60	0.24	82	0	0	NA	0	missense	0	NM_019074	DLL4	41221531	41231258	+	CGC	CAC	Arg	His	p.R516H	685	e9	11	0	0	SNV
SJMPAL042792	SJMPAL042792_D3	15	41228732	G	A	41228732	376.77	47	31	16	60	0.34	82	0	0	NA	0	missense	0	NM_019074	DLL4	41221531	41231258	+	CGC	CAC	Arg	His	p.R516H	685	e9	11	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	15	48779517	G	A	48779517	90.77	209	192	17	60	0.08	310	0	0	rs539103389	5007;1	missense	0	NM_000138	FBN1	48700503	48937985	-	GCG	GTG	Ala	Val	p.A1152V	2871	e28	66	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL004013	SJMPAL004013_D2	15	55838775	G	A	55838775	540.77	125	94	31	60	0.25	191	0	0	NA	0	missense	0	NM_015617	PYGO1	55831085	55881050	-	CCC	TCC	Pro	Ser	p.P236S	419	e3	3	0	0	SNV
SJMPAL016341	SJMPAL016341_D2	15	68468048	CC	CGGGGG	68468049	2540.73	141	92	44	60.08	0.31	93	4	NA	NA	0	frame_shift_ins	0	NM_016166	PIAS1	68346572	68480404	+	CCG	CCG	Pro	Pro	p.P415fs	651	e10	14	0	0	INDEL
SJMPAL016341	SJMPAL016341_D3	15	68468048	CC	CGGGGG	68468049	2430.73	119	70	41	60	0.34	93	4	NA	NA	0	frame_shift_ins	0	NM_016166	PIAS1	68346572	68480404	+	CCG	CCG	Pro	Pro	p.P415fs	651	e10	14	0	0	INDEL
SJMPAL016341	SJMPAL016341_D4	15	68468048	CC	CGGGGG	68468049	NA	112	98	14	NA	0.13	93	4	NA	NA	0	frame_shift_ins	0	NM_016166	PIAS1	68346572	68480404	+	CCG	CCG	Pro	Pro	p.P415fs	651	e10	14	0	0	INDEL
SJMPAL041119	SJMPAL041119_D2	15	69740141	C	T	69740141	NA	56	53	3	NA	0.05	126	0	0	NA	0	missense	0	NM_138555	KIF23	69706585	69740766	+	CCA	TCA	Pro	Ser	p.P960S	960	e23	23	0	0	SNV
SJMPAL012425	SJMPAL012425_D2	15	71175244	T	C	71175244	87.77	37	31	6	60	0.16	45	0	0	NA	0	missense	0	NM_020147	THAP10	71173681	71184772	-	ACG	GCG	Thr	Ala	p.T145A	257	e2	3	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	15	71175244	T	C	71175244	85.77	31	26	5	60	0.16	45	0	0	NA	0	missense	0	NM_020147	THAP10	71173681	71184772	-	ACG	GCG	Thr	Ala	p.T145A	257	e2	3	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	15	84706458	G	A	84706458	25.78	34	28	6	60	0.18	19	0	0	NA	0	missense	0	NM_207517	ADAMTSL3	84322838	84708593	+	TGC	TAC	Cys	Tyr	p.C1659Y	1691	e30	30	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	15	91803638	C	T	91803638	61.77	38	32	6	60	0.16	64	0	0	rs149291154	4549;1	missense	0	NM_014848	SV2B	91643539	91844539	+	ACG	ATG	Thr	Met	p.T336M	683	e7	14	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D2	15	92459637	G	A	92459637	128.77	34	26	8	60	0.24	43	0	0	NA	0	missense	0	NM_013272	SLCO3A1	92396938	92709137	+	GTC	ATC	Val	Ile	p.V199I	710	e2	10	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D3	15	92459637	G	A	92459637	248.77	31	19	11	60	0.35	43	0	0	NA	0	missense	0	NM_013272	SLCO3A1	92396938	92709137	+	GTC	ATC	Val	Ile	p.V199I	710	e2	10	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017981	SJMPAL017981_D4	15	92459637	G	A	92459637	154.77	29	21	8	60	0.28	43	0	0	NA	0	missense	0	NM_013272	SLCO3A1	92396938	92709137	+	GTC	ATC	Val	Ile	p.V199I	710	e2	10	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	15	96875704	G	T	96875704	179.77	53	41	11	60	0.21	123	0	0	NA	0	missense	0	NM_021005	NR2F2	96874111	96883492	+	GAC	TAC	Asp	Tyr	p.D124Y	414	e1	3	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	15	99828110	A	AGG	99828110	2650.73	119	62	56	60.18	0.47	147	0	NA	NA	0	frame_shift_ins	0	NM_144598	LRRC28	99791567	99926514	+	TTA	TTA	Leu	Leu	p.L113fs	367	e5	10	0	0	INDEL
SJMPAL046469	SJMPAL046469_D1	15	100695509	C	T	100695509	1162.77	136	81	55	60	0.40	274	0	0	NA	0	missense	0	NM_139057	ADAMTS17	100511643	100882183	-	GAC	AAC	Asp	Asn	p.D400N	1095	e9	22	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	15	101009605	G	A	101009605	54.77	68	61	7	60	0.10	105	0	0	NA	0	missense	0	NM_001290341	CERS3	100940600	101084531	-	CGC	TGC	Arg	Cys	p.R286C	394	e12	14	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	15	101009605	G	A	101009605	728.77	80	49	31	60	0.39	105	0	0	NA	0	missense	0	NM_001290341	CERS3	100940600	101084531	-	CGC	TGC	Arg	Cys	p.R286C	394	e12	14	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	15	101009605	G	A	101009605	NA	84	79	5	NA	0.06	105	0	0	NA	0	missense	0	NM_001290341	CERS3	100940600	101084531	-	CGC	TGC	Arg	Cys	p.R286C	394	e12	14	0	0	SNV
SJMPAL043773	SJMPAL043773_R1	16	1412997	G	T	1412997	1842.77	213	126	87	60	0.41	31	0	0	NA	0	splice	0	NM_032520	GNPTG	1401900	1413352	+	ACA	0	Thr	0	p.T274sp	305	e10-1	11	0	0	SNV
SJMPAL040035	SJMPAL040035_D2	16	1493568	A	G	1493568	82.77	11	6	5	60	0.45	18	1	35	NA	0	missense	0	NM_001143980	CCDC154	1484389	1494490	-	CTG	CCG	Leu	Pro	p.L118P	667	e3	17	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	16	2282523	G	A	2282523	241.77	66	55	11	60	0.17	98	0	0	NA	0	missense	0	NM_004424	E4F1	2273489	2285743	+	GGG	AGG	Gly	Arg	p.G226R	784	e5	14	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	16	2282523	G	A	2282523	541.77	64	43	21	60	0.33	98	0	0	NA	0	missense	0	NM_004424	E4F1	2273489	2285743	+	GGG	AGG	Gly	Arg	p.G226R	784	e5	14	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	16	3075963	G	C	3075963	639.77	94	57	36	60	0.38	152	0	0	NA	0	missense	0	NM_024339	THOC6	3074032	3077756	+	AGT	ACT	Ser	Thr	p.S65T	341	e3	13	0	0	SNV
SJMPAL011911	SJMPAL011911_D2	16	3075963	G	C	3075963	903.77	105	63	42	60	0.40	152	0	0	NA	0	missense	0	NM_024339	THOC6	3074032	3077756	+	AGT	ACT	Ser	Thr	p.S65T	341	e3	13	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	16	27732961	T	TG	27732961	49.73	81	67	9	60.27	0.11	87	0	NA	NA	0	frame_shift_ins	0	NM_015202	KIAA0556	27561468	27791692	+	CTG	CTG	Leu	Leu	p.L563fs	1618	e14	28	0	0	INDEL
SJMPAL040038	SJMPAL040038_D2	16	28332184	G	A	28332184	382.77	32	11	21	60	0.66	23	0	0	NA	0	missense	0	NM_001024401	SBK1	28303840	28335170	+	CGC	CAC	Arg	His	p.R406H	424	e4	4	0	0	SNV
SJMPAL040024	SJMPAL040024_D2	16	30747677	TC	T	30747678	387.73	22	9	12	60	0.55	37	0	NA	NA	0	frame_shift_del	0	NM_006662	SRCAP	30710462	30751450	+	TCC	TCC	Ser	Ser	p.S2296fs	3230	e32	34	0	0	INDEL
SJMPAL040024	SJMPAL040024_D3	16	30747677	TC	T	30747678	827.73	63	32	26	60.34	0.41	37	0	NA	NA	0	frame_shift_del	0	NM_006662	SRCAP	30710462	30751450	+	TCC	TCC	Ser	Ser	p.S2296fs	3230	e32	34	0	0	INDEL
SJMPAL012419	SJMPAL012419_D2	16	48594803	T	G	48594803	900.77	94	62	32	60	0.34	78	0	0	NA	0	missense	0	NM_153029	N4BP1	48572637	48644120	-	GAT	GCT	Asp	Ala	p.D584A	896	e2	7	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	16	48594803	T	G	48594803	1113.77	108	68	40	60	0.37	78	0	0	NA	0	missense	0	NM_153029	N4BP1	48572637	48644120	-	GAT	GCT	Asp	Ala	p.D584A	896	e2	7	0	0	SNV
SJMPAL012422	SJMPAL012422_D2	16	51173281	G	A	51173281	3175.77	222	103	118	60	0.53	120	3	0|35|57	NA	0	missense	0	NM_002968	SALL1	51169886	51185183	-	GCG	GTG	Ala	Val	p.A951V	1324	e2	3	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	16	51173281	G	A	51173281	2380.77	215	119	95	60	0.44	120	3	0|35|57	NA	0	missense	0	NM_002968	SALL1	51169886	51185183	-	GCG	GTG	Ala	Val	p.A951V	1324	e2	3	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	16	51173281	G	A	51173281	954.77	76	42	34	60	0.45	120	3	0|35|57	NA	0	missense	0	NM_002968	SALL1	51169886	51185183	-	GCG	GTG	Ala	Val	p.A951V	1324	e2	3	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	16	57484964	G	T	57484964	1233.77	209	150	59	60	0.28	343	3	0|40|80	NA	0	missense	0	NM_020312	COQ9	57481337	57495187	+	CGA	CTA	Arg	Leu	p.R29L	318	e2	9	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	16	57604383	G	A	57604383	1438.77	149	87	62	60	0.42	121	1	8	NA	0	missense	0	NM_001304376	GPR114	57576333	57611100	+	GGA	AGA	Gly	Arg	p.G382R	528	e10	12	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL017973	SJMPAL017973_D3	16	57761310	C	T	57761310	745.77	84	52	32	60	0.38	100	1	6	NA	0	missense	0	NM_032269	DRC7	57728713	57765367	+	CGG	TGG	Arg	Trp	p.R729W	874	e15	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	16	58568153	C	CT	58568153	265.73	135	112	17	60	0.13	263	0	NA	NA	0	frame_shift_ins	0	NM_016284	CNOT1	58553850	58663790	-	AAG	AAG	Lys	Lys	p.K1931fs	2376	e40	49	0	0	INDEL
SJMPAL016342	SJMPAL016342_R1	16	67401073	A	G	67401073	72.77	146	132	14	60	0.10	76	0	0	NA	0	missense	0	NM_018296	LRRC36	67360747	67419109	+	CAT	CGT	His	Arg	p.H303R	754	e8	14	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	16	67970362	G	C	67970362	156.77	26	19	7	60	0.27	26	0	0	NA	0	missense	0	NM_002801	PSMB10	67968407	67970780	-	CCG	CGG	Pro	Arg	p.P28R	273	e2	8	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	16	75270851	C	T	75270851	60.77	33	27	6	60	0.18	17	0	0	NA	0	missense	0	NM_001170714	BCAR1	75262928	75299905	-	GAC	AAC	Asp	Asn	p.D327N	916	e5	8	0	0	SNV
SJMPAL041119	SJMPAL041119_D3	16	75270851	C	T	75270851	229.77	30	19	11	60	0.37	17	0	0	NA	0	missense	0	NM_001170714	BCAR1	75262928	75299905	-	GAC	AAC	Asp	Asn	p.D327N	916	e5	8	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	16	83994366	G	A	83994366	118.77	23	17	6	60	0.26	26	0	0	NA	0	splice	0	NM_182981	OSGIN1	83986827	83999937	+	CAC	0	His	0	p.H132sp	477	e4+1	6	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	16	83994366	G	A	83994366	256.77	26	16	10	60	0.38	26	0	0	NA	0	splice	0	NM_182981	OSGIN1	83986827	83999937	+	CAC	0	His	0	p.H132sp	477	e4+1	6	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	16	83994366	G	A	83994366	482.77	51	33	18	60	0.35	26	0	0	NA	0	splice	0	NM_182981	OSGIN1	83986827	83999937	+	CAC	0	His	0	p.H132sp	477	e4+1	6	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	16	83994366	G	A	83994366	78.77	16	11	4	60	0.25	26	0	0	NA	0	splice	0	NM_182981	OSGIN1	83986827	83999937	+	CAC	0	His	0	p.H132sp	477	e4+1	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	16	84070306	C	T	84070306	900.77	49	17	32	60	0.65	91	0	0	rs149436446	4527;1	splice	0	NM_001080442	SLC38A8	84043272	84075762	-	AAG	0	Lys	0	p.K129sp	435	e2+1	10	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	16	84158304	C	T	84158304	373.77	86	61	25	60	0.29	131	0	0	NA	0	nonsense	0	NM_031463	HSDL1	84155744	84178800	-	TGG	TGA	Trp	*	p.W308*	330	e6	6	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	16	85691062	CTGGCGCGGCA	CAGAGAGACC	85691072	14.87	49	36	6	60	0.12	43	0	NA	NA	0	frame_shift_del	0	NM_014615	GSE1	85646842	85709812	+	CTG	CTG	Leu	Leu	p.L498fs	1217	e8	16	0	0	INDEL
SJMPAL005001	SJMPAL005001_R4	16	85936693	A	AG	85936693	3039.73	187	89	90	60	0.48	121	2	NA	NA	0	frame_shift_ins	0	NM_002163	IRF8	85932774	85956211	+	CCA	CCA	Pro	Pro	p.P24fs	426	e2	9	0	0	INDEL
SJMPAL040033	SJMPAL040033_D2	16	88499483	C	T	88499483	152.77	26	17	9	60	0.35	61	0	0	NA	0	missense	0	NM_001127464	ZNF469	88493879	88507165	+	CGG	TGG	Arg	Trp	p.R1841W	3925	e2	2	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	16	88499483	C	T	88499483	424.77	57	36	21	60	0.37	61	0	0	NA	0	missense	0	NM_001127464	ZNF469	88493879	88507165	+	CGG	TGG	Arg	Trp	p.R1841W	3925	e2	2	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	16	88499483	C	T	88499483	367.77	42	29	13	60	0.31	61	0	0	NA	0	missense	0	NM_001127464	ZNF469	88493879	88507165	+	CGG	TGG	Arg	Trp	p.R1841W	3925	e2	2	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	17	263140	G	T	263140	995.77	75	41	34	60	0.45	156	3	0|24|82	NA	0	missense	0	NM_001013672	C17orf97	260118	264457	+	AGT	ATT	Ser	Ile	p.S169I	423	e2	2	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	17	263140	G	T	263140	832.77	75	45	30	60	0.40	156	3	0|24|82	NA	0	missense	0	NM_001013672	C17orf97	260118	264457	+	AGT	ATT	Ser	Ile	p.S169I	423	e2	2	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	644755	T	C	644755	126.77	42	35	7	60	0.17	115	0	0	NA	0	missense	0	NM_024792	FAM57A	635847	646075	+	CTG	CCG	Leu	Pro	p.L240P	257	e5	5	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	17	725610	C	T	725610	46.77	45	39	6	60	0.13	52	0	0	rs370296358	0	missense	0	NM_022463	NXN	702553	882998	-	GTT	ATT	Val	Ile	p.V234I	435	e4	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL016447	SJMPAL016447_D2	17	725610	C	T	725610	NA	34	30	4	NA	0.12	52	0	0	rs370296358	0	missense	0	NM_022463	NXN	702553	882998	-	GTT	ATT	Val	Ile	p.V234I	435	e4	8	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL042795	SJMPAL042795_D2	17	3788843	G	A	3788843	563.77	42	24	18	60	0.43	57	0	0	rs113610926	0	missense	0	NM_172207	CAMKK1	3768451	3796337	-	CGG	TGG	Arg	Trp	p.R47W	520	e2	16	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL042795	SJMPAL042795_D3	17	3788843	G	A	3788843	511.77	48	29	19	60	0.40	57	0	0	rs113610926	0	missense	0	NM_172207	CAMKK1	3768451	3796337	-	CGG	TGG	Arg	Trp	p.R47W	520	e2	16	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL042795	SJMPAL042795_D4	17	3788843	G	A	3788843	578.77	42	22	20	60	0.48	57	0	0	rs113610926	0	missense	0	NM_172207	CAMKK1	3768451	3796337	-	CGG	TGG	Arg	Trp	p.R47W	520	e2	16	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL041120	SJMPAL041120_D5	17	4699580	G	A	4699580	335.77	41	29	12	60	0.29	26	0	0	NA	0	missense	0	NM_002798	PSMB6	4699439	4701798	+	GTT	ATT	Val	Ile	p.V31I	239	e1	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	7849146	T	C	7849146	203.77	84	70	14	60	0.17	184	0	0	NA	0	missense	0	NM_001037144	CNTROB	7835442	7853237	+	GTA	GCA	Val	Ala	p.V612A	925	e13	19	0	0	SNV
SJMPAL040036	SJMPAL040036_D3	17	9083223	G	A	9083223	337.77	24	11	13	60	0.54	18	0	0	NA	0	missense	0	NM_004822	NTN1	8924859	9147317	+	CGC	CAC	Arg	His	p.R436H	604	e4	7	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	17	9083223	G	A	9083223	365.77	36	18	18	60	0.50	18	0	0	NA	0	missense	0	NM_004822	NTN1	8924859	9147317	+	CGC	CAC	Arg	His	p.R436H	604	e4	7	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	17	9083223	G	A	9083223	348.77	36	20	16	59.59	0.44	18	0	0	NA	0	missense	0	NM_004822	NTN1	8924859	9147317	+	CGC	CAC	Arg	His	p.R436H	604	e4	7	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	17	9083223	G	A	9083223	371.77	45	30	15	60	0.33	18	0	0	NA	0	missense	0	NM_004822	NTN1	8924859	9147317	+	CGC	CAC	Arg	His	p.R436H	604	e4	7	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	17	10348336	G	A	10348336	1576.77	162	102	60	55.19	0.37	185	0	0	rs200732393	5007;1	missense	0	NM_017533	MYH4	10346608	10372876	-	GCG	GTG	Ala	Val	p.A1808V	1939	e37	40	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	17	12862073	T	C	12862073	84.77	93	82	11	60	0.12	36	0	0	NA	0	missense	0	NM_014859	ARHGAP44	12692829	12894960	+	GTA	GCA	Val	Ala	p.V461A	818	e16	21	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	17	18881814	G	A	18881814	1131.77	75	33	42	60	0.56	49	0	0	NA	0	missense	0	NM_001039999	FAM83G	18874381	18908060	-	CCC	TCC	Pro	Ser	p.P389S	823	e5	6	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	17	26901721	C	T	26901721	15.88	87	78	9	60	0.10	28	0	0	NA	0	missense	0	NM_005165	ALDOC	26900133	26903951	-	TGC	TAC	Cys	Tyr	p.C178Y	364	e5	9	0	0	SNV
SJMPAL041122	SJMPAL041122_D2	17	33475355	G	A	33475355	1605.77	105	44	61	60	0.58	123	3	0|41|79	NA	0	missense	0	NM_173167	UNC45B	33474836	33516364	+	GCC	ACC	Ala	Thr	p.A25T	931	e2	20	0	0	SNV
SJMPAL041122	SJMPAL041122_D3	17	33475355	G	A	33475355	1027.77	63	27	36	60	0.57	123	3	0|41|79	NA	0	missense	0	NM_173167	UNC45B	33474836	33516364	+	GCC	ACC	Ala	Thr	p.A25T	931	e2	20	0	0	SNV
SJMPAL041122	SJMPAL041122_D4	17	33475355	G	A	33475355	1009.77	71	34	37	60	0.52	123	3	0|41|79	NA	0	missense	0	NM_173167	UNC45B	33474836	33516364	+	GCC	ACC	Ala	Thr	p.A25T	931	e2	20	0	0	SNV
SJMPAL011914	SJMPAL011914_D1	17	33806955	CATCTTTT	CCCCGAGGATAGATCCGGG	33806962	NA	96	92	4	NA	0.04	100	0	NA	NA	0	frame_shift_ins	0	NM_001195790	SLFN12L	33801942	33814758	-	GGA	GGA	Gly	Gly	p.G92fs	588	e2	4	0	0	indel
SJMPAL004013	SJMPAL004013_D2	17	36623050	G	A	36623050	271.77	21	11	10	60	0.48	37	0	0	NA	0	missense	0	NM_001199417	ARHGAP23	36584720	36668628	+	GAG	AAG	Glu	Lys	p.E376K	1491	e7	24	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	36943097	A	G	36943097	400.77	103	80	23	60	0.22	153	0	0	NA	0	missense	0	NM_003559	PIP4K2B	36921944	36956158	-	GTG	GCG	Val	Ala	p.V79A	416	e2	10	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	17	39216194	G	A	39216194	NA	113	95	18	NA	0.16	13	0	0	NA	0	nonsense	0	NM_001165252	KRTAP2-3	39215493	39216344	-	CAG	TAG	Gln	*	p.Q37*	128	e1	1	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	17	39216194	G	A	39216194	NA	86	67	19	NA	0.22	13	0	0	NA	0	nonsense	0	NM_001165252	KRTAP2-3	39215493	39216344	-	CAG	TAG	Gln	*	p.Q37*	128	e1	1	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	39551534	T	C	39551534	313.77	118	96	22	48.95	0.19	204	0	0	NA	0	missense	0	NM_002277	KRT31	39549977	39553844	-	AAC	AGC	Asn	Ser	p.N280S	416	e5	7	0	0	SNV
SJMPAL040034	SJMPAL040034_D2	17	42232678	C	T	42232678	522.77	89	64	25	60	0.28	24	0	0	NA	0	nonsense	0	NM_024032	C17orf53	42219274	42239844	+	CGA	TGA	Arg	*	p.R558*	647	e8	10	3	Confirm(1)Report(2)Unknown(0)	SNV
SJMPAL040034	SJMPAL040034_D3	17	42232678	C	T	42232678	692.77	56	35	21	60	0.38	24	0	0	NA	0	nonsense	0	NM_024032	C17orf53	42219274	42239844	+	CGA	TGA	Arg	*	p.R558*	647	e8	10	3	Confirm(1)Report(2)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	17	42991136	A	C	42991136	477.77	169	137	32	60	0.19	267	2	0|2	NA	0	missense	0	NM_001242376	GFAP	42987035	42992920	-	CTG	CGG	Leu	Arg	p.L193R	438	e3	7	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	43101931	A	G	43101931	87.77	64	51	11	60	0.17	109	0	0	NA	0	missense	0	NM_001288655	DCAKD	43100706	43128885	-	GTC	GCC	Val	Ala	p.V189A	231	e5	5	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	47486706	A	G	47486706	73.77	54	47	7	60	0.13	92	0	0	NA	0	missense	0	NM_001281496	PHB	47481410	47492220	-	CTC	CCC	Leu	Pro	p.L127P	272	e4	7	0	0	SNV
SJMPAL040031	SJMPAL040031_D2	17	48456472	C	T	48456472	781.77	107	76	31	60	0.29	92	1	41	NA	0	nonsense	0	NM_001166131	EME1	48450581	48458820	+	CAG	TAG	Gln	*	p.Q386*	583	e6	9	0	0	SNV
SJMPAL040031	SJMPAL040031_D3	17	48456472	C	T	48456472	273.77	150	127	23	60	0.15	92	1	41	NA	0	nonsense	0	NM_001166131	EME1	48450581	48458820	+	CAG	TAG	Gln	*	p.Q386*	583	e6	9	0	0	SNV
SJMPAL040031	SJMPAL040031_D4	17	48456472	C	T	48456472	743.77	88	58	30	60	0.34	92	1	41	NA	0	nonsense	0	NM_001166131	EME1	48450581	48458820	+	CAG	TAG	Gln	*	p.Q386*	583	e6	9	0	0	SNV
SJMPAL040031	SJMPAL040031_D5	17	48456472	C	T	48456472	1808.77	163	94	69	60	0.42	92	1	41	NA	0	nonsense	0	NM_001166131	EME1	48450581	48458820	+	CAG	TAG	Gln	*	p.Q386*	583	e6	9	0	0	SNV
SJMPAL012418	SJMPAL012418_D2	17	51900728	G	A	51900728	997.77	71	33	38	60	0.54	57	0	0	NA	0	missense	0	NM_032559	KIF2B	51900239	51902573	+	GCC	ACC	Ala	Thr	p.A112T	673	e1	1	14	Confirm(12)Report(2)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D3	17	51900728	G	A	51900728	658.77	64	37	27	60	0.42	57	0	0	NA	0	missense	0	NM_032559	KIF2B	51900239	51902573	+	GCC	ACC	Ala	Thr	p.A112T	673	e1	1	14	Confirm(12)Report(2)Unknown(0)	SNV
SJMPAL012418	SJMPAL012418_D4	17	51900728	G	A	51900728	473.77	41	23	18	60	0.44	57	0	0	NA	0	missense	0	NM_032559	KIF2B	51900239	51902573	+	GCC	ACC	Ala	Thr	p.A112T	673	e1	1	14	Confirm(12)Report(2)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	17	53111594	G	A	53111594	393.77	114	92	22	60	0.19	101	0	0	NA	0	missense	0	NM_178509	STXBP4	53046126	53241449	+	GAA	AAA	Glu	Lys	p.E277K	553	e10	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	55068494	C	CG	55068494	662.73	120	82	29	60	0.24	172	0	NA	NA	0	frame_shift_ins	0	NM_021626	SCPEP1	55055468	55084129	+	GCG	GCG	Ala	Ala	p.A194fs	452	e6	13	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	17	61776164	C	CT	61776164	205.73	45	32	9	60	0.20	63	0	NA	NA	0	frame_shift_ins	0	NM_030576	LIMD2	61773249	61777519	-	AAG	AAG	Lys	Lys	p.K73fs	127	e4	5	0	0	INDEL
SJMPAL041120	SJMPAL041120_D5	17	72862585	A	G	72862585	140.77	76	65	11	60	0.14	114	0	0	NA	0	missense	0	NM_001258012	FDXR	72858619	72869156	-	TAC	CAC	Tyr	His	p.Y169H	534	e4	12	0	0	SNV
SJMPAL040031	SJMPAL040031_D2	17	74732411	T	TGGGC	74732411	553.73	33	21	10	60	0.30	38	0	NA	NA	0	frame_shift_ins	0	NM_003016	SRSF2	74730197	74733493	-	GCA	GCA	Ala	Ala	p.A166fs	221	e2	2	0	0	INDEL
SJMPAL040031	SJMPAL040031_D4	17	74732411	T	TGGGC	74732411	478.73	28	18	9	60.39	0.32	38	0	NA	NA	0	frame_shift_ins	0	NM_003016	SRSF2	74730197	74733493	-	GCA	GCA	Ala	Ala	p.A166fs	221	e2	2	0	0	INDEL
SJMPAL040031	SJMPAL040031_D3	17	74732411	T	TGGGC	74732411	NA	67	64	3	NA	0.04	38	0	NA	NA	0	frame_shift_ins	0	NM_003016	SRSF2	74730197	74733493	-	GCA	GCA	Ala	Ala	p.A166fs	221	e2	2	0	0	INDEL
SJMPAL040031	SJMPAL040031_D5	17	74732411	T	TGGGC	74732411	1420.73	52	27	23	60	0.44	38	0	NA	NA	0	frame_shift_ins	0	NM_003016	SRSF2	74730197	74733493	-	GCA	GCA	Ala	Ala	p.A166fs	221	e2	2	0	0	INDEL
SJMPAL040028	SJMPAL040028_D2	17	76566406	C	T	76566406	608.77	82	58	24	60	0.29	58	1	29	NA	0	missense	0	NM_173628	DNAH17	76419778	76573476	-	GCC	ACC	Ala	Thr	p.A323T	4462	e7	81	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	17	76566406	C	T	76566406	341.77	44	27	17	60	0.39	58	1	29	NA	0	missense	0	NM_173628	DNAH17	76419778	76573476	-	GCC	ACC	Ala	Thr	p.A323T	4462	e7	81	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	17	78064134	G	A	78064134	137.77	260	235	25	51.32	0.10	320	0	0	NA	0	missense	0	NM_001243342	CCDC40	78010431	78064620	+	CGT	CAT	Arg	His	p.R1010H	1030	e18	18	0	0	SNV
SJMPAL040025	SJMPAL040025_D2	17	79663455	C	T	79663455	360.77	24	11	13	60	0.54	45	0	0	NA	0	missense	0	NM_004712	HGS	79650962	79669151	+	CGC	TGC	Arg	Cys	p.R488C	777	e16	22	0	0	SNV
SJMPAL040025	SJMPAL040025_D3	17	79663455	C	T	79663455	541.77	29	11	18	60	0.62	45	0	0	NA	0	missense	0	NM_004712	HGS	79650962	79669151	+	CGC	TGC	Arg	Cys	p.R488C	777	e16	22	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	17	79684876	C	CA	79684876	586.73	77	54	21	60.14	0.27	195	0	NA	NA	0	frame_shift_ins	0	NM_001270953	SLC25A10	79679266	79688046	+	CAA	CAA	Gln	Gln	p.Q203fs	406	e9	11	0	0	INDEL
SJMPAL012425	SJMPAL012425_D2	17	79899050	G	A	79899050	436.77	48	29	18	60	0.38	47	0	0	NA	0	missense	0	NM_001145113	MYADML2	79897521	79905109	-	CGC	TGC	Arg	Cys	p.R190C	307	e3	3	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	17	79899050	G	A	79899050	437.77	66	39	26	60	0.39	47	0	0	NA	0	missense	0	NM_001145113	MYADML2	79897521	79905109	-	CGC	TGC	Arg	Cys	p.R190C	307	e3	3	0	0	SNV
SJMPAL016447	SJMPAL016447_D2	18	706508	C	A	706508	762.9	36	2	34	60	0.94	82	4	0|0|72|81	NA	0	missense	0	NM_202758	ENOSF1	670324	712517	-	TGT	TTT	Cys	Phe	p.C73F	450	e2	15	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	18	706508	C	A	706508	1148.94	46	3	43	60	0.93	82	4	0|0|72|81	NA	0	missense	0	NM_202758	ENOSF1	670324	712517	-	TGT	TTT	Cys	Phe	p.C73F	450	e2	15	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	18	706508	C	A	706508	828.77	39	4	35	60	0.90	82	4	0|0|72|81	NA	0	missense	0	NM_202758	ENOSF1	670324	712517	-	TGT	TTT	Cys	Phe	p.C73F	450	e2	15	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	18	10762610	T	C	10762610	37.77	34	29	5	60	0.15	42	0	0	NA	0	missense	0	NM_022068	PIEZO2	10670244	11148761	-	CAA	CGA	Gln	Arg	p.Q1021R	2752	e21	52	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL043773	SJMPAL043773_R1	18	44104696	C	T	44104696	252.77	61	46	15	60	0.25	29	0	0	NA	0	missense	0	NM_144612	LOXHD1	44057217	44236996	-	CGA	CAA	Arg	Gln	p.R1572Q	2211	e30	40	0	0	SNV
SJMPAL040030	SJMPAL040030_D2	18	77728106	C	T	77728106	19.81	89	81	8	60	0.09	44	0	0	NA	0	missense	0	NM_001136180	HSBP1L1	77724582	77730822	+	CGC	TGC	Arg	Cys	p.R46C	74	e3	4	0	0	SNV
SJMPAL040030	SJMPAL040030_D4	18	77728106	C	T	77728106	165.77	56	45	11	60	0.20	44	0	0	NA	0	missense	0	NM_001136180	HSBP1L1	77724582	77730822	+	CGC	TGC	Arg	Cys	p.R46C	74	e3	4	0	0	SNV
SJMPAL040030	SJMPAL040030_D5	18	77728106	C	T	77728106	239.77	49	35	14	60	0.29	44	0	0	NA	0	missense	0	NM_001136180	HSBP1L1	77724582	77730822	+	CGC	TGC	Arg	Cys	p.R46C	74	e3	4	0	0	SNV
SJMPAL040030	SJMPAL040030_D3	18	77728106	C	T	77728106	NA	58	52	6	NA	0.10	44	0	0	NA	0	missense	0	NM_001136180	HSBP1L1	77724582	77730822	+	CGC	TGC	Arg	Cys	p.R46C	74	e3	4	0	0	SNV
SJMPAL043508	SJMPAL043508_R1	19	498495	G	T	498495	45.77	8	4	4	60	0.50	25	0	0	NA	0	splice	0	NM_130760	MADCAM1	496490	505343	+	TAC	0	Tyr	0	p.Y112sp	382	e2-1	5	0	0	SNV
SJMPAL040034	SJMPAL040034_D2	19	984369	G	A	984369	402.77	12	0	12	60	1.00	27	0	0	NA	0	missense	0	NM_024100	WDR18	984328	994569	+	GAG	AAG	Glu	Lys	p.E6K	432	e1	10	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	19	1271349	C	T	1271349	238.77	60	49	11	60	0.18	132	0	0	NA	0	nonsense	0	NM_001300829	CIRBP	1269265	1273171	+	CGA	TGA	Arg	*	p.R78*	297	e4	6	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	19	1467753	G	A	1467753	NA	3	0	3	NA	1.00	4	0	0	NA	0	missense	0	NM_005883	APC2	1450148	1473243	+	GGC	AGC	Gly	Ser	p.G1485S	2303	e15	15	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	19	2917854	G	A	2917854	1609.77	142	85	57	59	0.40	139	0	0	NA	0	missense	0	NM_173480	ZNF57	2900896	2918474	+	AGG	AAG	Arg	Lys	p.R412K	555	e4	4	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	19	2917854	G	A	2917854	853.77	102	66	36	59.39	0.35	139	0	0	NA	0	missense	0	NM_173480	ZNF57	2900896	2918474	+	AGG	AAG	Arg	Lys	p.R412K	555	e4	4	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	19	2917854	G	A	2917854	1981.77	136	73	63	59.23	0.46	139	0	0	NA	0	missense	0	NM_173480	ZNF57	2900896	2918474	+	AGG	AAG	Arg	Lys	p.R412K	555	e4	4	0	0	SNV
SJMPAL011912	SJMPAL011912_D2	19	3730450	G	A	3730450	137.77	19	11	8	60	0.42	40	0	0	NA	0	missense	0	NM_001267561	TJP3	3721697	3750811	+	CGG	CAG	Arg	Gln	p.R129Q	928	e5	21	0	0	SNV
SJMPAL040035	SJMPAL040035_D2	19	3913811	C	G	3913811	1775.77	164	90	74	60	0.45	119	0	0	NA	0	missense	0	NM_033064	ATCAY	3880618	3928080	+	CTC	GTC	Leu	Val	p.L308V	371	e9	13	0	0	SNV
SJMPAL040035	SJMPAL040035_D3	19	3913811	C	G	3913811	1682.77	214	142	71	60	0.33	119	0	0	NA	0	missense	0	NM_033064	ATCAY	3880618	3928080	+	CTC	GTC	Leu	Val	p.L308V	371	e9	13	0	0	SNV
SJMPAL012419	SJMPAL012419_D2	19	4171950	C	T	4171950	830.77	59	32	27	60	0.46	8	0	0	rs556140229	5007;1	missense	0	NM_032607	CREB3L3	4153598	4173051	+	GCG	GTG	Ala	Val	p.A457V	461	e10	10	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	19	4171950	C	T	4171950	980.77	72	40	32	60	0.44	8	0	0	rs556140229	5007;1	missense	0	NM_032607	CREB3L3	4153598	4173051	+	GCG	GTG	Ala	Val	p.A457V	461	e10	10	0	0	SNV
SJMPAL043512	SJMPAL043512_D1	19	4361703	G	T	4361703	28.77	102	93	9	60	0.09	209	0	0	NA	0	missense	0	NM_003025	SH3GL1	4360364	4400565	-	ACG	AAG	Thr	Lys	p.T334K	368	e10	10	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	4508844	T	C	4508844	150.77	55	44	10	60	0.18	78	0	0	NA	0	missense	0	NM_001080400	PLIN4	4502192	4517716	-	CAC	CGC	His	Arg	p.H1199R	1357	e4	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	5831696	A	G	5831696	100.77	48	41	7	39.88	0.15	454	0	0	NA	0	missense	0	NM_000150	FUT6	5830637	5839742	-	TTC	CTC	Phe	Leu	p.F295L	359	e3	3	0	0	SNV
SJMPAL005001	SJMPAL005001_R4	19	7163079	C	T	7163079	276.77	198	173	25	59.9	0.13	49	0	0	NA	0	missense	0	NM_000208	INSR	7112266	7294011	-	GAC	AAC	Asp	Asn	p.D665N	1382	e9	22	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	19	8188824	A	T	8188824	113.77	156	140	16	60	0.10	32	0	0	NA	0	missense	0	NM_032447	FBN3	8130287	8212385	-	TAC	AAC	Tyr	Asn	p.Y934N	2809	e22	63	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	19	9964974	GA	AT	9964975	5184.77	408	216	192	60	0.47	587	0	0	NA	0	missense	0	NM_001304347	OLFM2	9964394	10024381	-	TCG	ATG	Ser	Met	p.S442M	478	e6	6	0	0	MNP
SJMPAL042787	SJMPAL042787_D2	19	10625017	C	T	10625017	488.77	31	8	23	60	0.74	70	2	41|41	NA	0	missense	0	NM_030760	S1PR5	10623418	10628126	-	CGG	CAG	Arg	Gln	p.R224Q	398	e2	2	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	19	10625017	C	T	10625017	973.77	39	6	33	60	0.85	70	2	41|41	NA	0	missense	0	NM_030760	S1PR5	10623418	10628126	-	CGG	CAG	Arg	Gln	p.R224Q	398	e2	2	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	19	11106979	G	C	11106979	3373.77	219	101	115	60	0.53	159	2	0|76	NA	0	missense	0	NM_001128849	SMARCA4	11071808	11172958	+	GCT	CCT	Ala	Pro	p.A562P	1679	e10	36	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	19	11106979	G	C	11106979	1071.77	97	58	39	60	0.40	159	2	0|76	NA	0	missense	0	NM_001128849	SMARCA4	11071808	11172958	+	GCT	CCT	Ala	Pro	p.A562P	1679	e10	36	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	19	11106979	G	C	11106979	1740.77	145	77	67	60	0.46	159	2	0|76	NA	0	missense	0	NM_001128849	SMARCA4	11071808	11172958	+	GCT	CCT	Ala	Pro	p.A562P	1679	e10	36	0	0	SNV
SJMPAL040034	SJMPAL040034_D2	19	11313382	C	T	11313382	883.77	106	69	37	59.98	0.35	84	0	0	NA	0	missense	0	NM_020812	DOCK6	11309969	11373168	-	GTG	ATG	Val	Met	p.V1747M	2047	e42	48	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL040034	SJMPAL040034_D3	19	11313382	C	T	11313382	1166.77	130	84	46	60	0.35	84	0	0	NA	0	missense	0	NM_020812	DOCK6	11309969	11373168	-	GTG	ATG	Val	Met	p.V1747M	2047	e42	48	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL041120	SJMPAL041120_D5	19	11473282	G	A	11473282	608.77	86	59	26	60	0.30	113	2	0|76	NA	0	missense	0	NM_001170635	LPPR2	11466062	11476374	+	GTG	ATG	Val	Met	p.V228M	427	e7	10	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL041120	SJMPAL041120_D5	19	12881813	G	A	12881813	922.77	89	48	41	60	0.46	70	0	0	NA	0	missense	0	NM_013312	HOOK2	12873817	12886434	-	CGG	TGG	Arg	Trp	p.R279W	719	e10	23	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL044956	SJMPAL044956_D1	19	13445230	C	T	13445230	895.77	199	151	48	60	0.24	200	0	0	rs184473835	5007;1	missense	0	NM_023035*	CACNA1A	13317256	13617274	-	CGT	CAT	Arg	His	p.R387H	2511	e8	47	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D2	19	15052670	G	A	15052670	1716.77	125	70	55	60	0.44	60	0	0	NA	0	missense	0	NM_012377	OR7C2	15052301	15053260	+	GTG	ATG	Val	Met	p.V124M	319	e1	1	0	0	SNV
SJMPAL017976	SJMPAL017976_D3	19	15052670	G	A	15052670	2329.77	148	75	73	60	0.49	60	0	0	NA	0	missense	0	NM_012377	OR7C2	15052301	15053260	+	GTG	ATG	Val	Met	p.V124M	319	e1	1	0	0	SNV
SJMPAL017976	SJMPAL017976_D4	19	15052670	G	A	15052670	1222.77	97	55	42	60	0.43	60	0	0	NA	0	missense	0	NM_012377	OR7C2	15052301	15053260	+	GTG	ATG	Val	Met	p.V124M	319	e1	1	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	16032914	A	AT	16032914	172.73	53	43	9	60	0.17	69	0	NA	NA	0	frame_shift_ins	0	NM_021187	CYP4F11	16023180	16045676	-	TAC	TAC	Tyr	Tyr	p.Y350fs	524	e8	12	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	19	18188456	T	G	18188456	441.77	194	167	27	60	0.14	304	0	0	NA	0	missense	0	NM_001290024	IL12RB1	18169805	18209626	-	GAG	GCG	Glu	Ala	p.E180A	702	e6	18	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	19710128	C	T	19710128	408.77	137	114	23	60	0.17	207	0	0	NA	0	missense	0	NM_025245	PBX4	19672516	19729725	-	GTG	ATG	Val	Met	p.V56M	374	e2	8	0	0	SNV
SJMPAL012424	SJMPAL012424_D2	19	20296855	A	G	20296855	165.77	114	98	16	60	0.14	58	0	0	NA	0	missense	0	NM_052852	ZNF486	20278023	20311299	+	ACT	GCT	Thr	Ala	p.T73A	463	e3	4	0	0	SNV
SJMPAL012424	SJMPAL012424_D3	19	20296855	A	G	20296855	77.77	64	55	9	59.48	0.14	58	0	0	NA	0	missense	0	NM_052852	ZNF486	20278023	20311299	+	ACT	GCT	Thr	Ala	p.T73A	463	e3	4	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	19	36054348	CCTT	C	36054351	291.73	42	30	8	60	0.19	94	0	NA	NA	0	in-frame_del	0	NM_000704	ATP4A	36041095	36054560	-	AAG	AAG	Lys	Lys	p.K31del	1035	e2	22	4	Confirm(4)Report(0)Unknown(0)	INDEL
SJMPAL041117	SJMPAL041117_D3	19	36054348	CCTT	C	36054351	536.73	39	21	13	60.55	0.33	94	0	NA	NA	0	in-frame_del	0	NM_000704	ATP4A	36041095	36054560	-	AAG	AAG	Lys	Lys	p.K31del	1035	e2	22	4	Confirm(4)Report(0)Unknown(0)	INDEL
SJMPAL040038	SJMPAL040038_D2	19	38028389	C	A	38028389	480.77	167	142	25	60	0.15	152	0	0	NA	0	missense	0	NM_001013659	ZNF793	37997841	38034239	+	CAC	AAC	His	Asn	p.H277N	406	e8	8	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	19	40380232	C	T	40380232	1456.77	255	188	67	34.27	0.26	609	4	35|41|41|41	NA	0	missense	0	NM_003890	FCGBP	40353963	40440533	-	GTC	ATC	Val	Ile	p.V3695I	5405	e23	36	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	19	40380232	C	T	40380232	1301.77	351	276	75	33.57	0.21	609	4	35|41|41|41	NA	0	missense	0	NM_003890	FCGBP	40353963	40440533	-	GTC	ATC	Val	Ile	p.V3695I	5405	e23	36	0	0	SNV
SJMPAL046466	SJMPAL046466_D2	19	40904706	C	A	40904706	1599.77	93	35	58	60	0.62	76	6	0|34|39|40|41|76	NA	0	missense	0	NM_181882	PRX	40899671	40919271	-	GCC	TCC	Ala	Ser	p.A68S	1461	e6	7	0	0	SNV
SJMPAL046466	SJMPAL046466_D4	19	40904706	C	A	40904706	NA	102	84	18	NA	0.18	76	6	0|34|39|40|41|76	NA	0	missense	0	NM_181882	PRX	40899671	40919271	-	GCC	TCC	Ala	Ser	p.A68S	1461	e6	7	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	19	43519377	C	A	43519377	4034.77	340	176	163	59.71	0.48	413	1	0	NA	0	missense	0	NM_002785	PSG11	43511809	43530631	-	AAG	AAT	Lys	Asn	p.K285N	335	e4	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	44662091	A	T	44662091	109.77	44	36	8	60	0.18	77	0	0	NA	0	missense	0	NM_006630	ZNF234	44645710	44664462	+	TAT	TTT	Tyr	Phe	p.Y641F	700	e6	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	44739150	G	C	44739150	286.77	62	49	13	60	0.21	119	0	0	NA	0	missense	0	NM_001289166	ZNF227	44716681	44741421	+	CAG	CAC	Gln	His	p.Q189H	799	e6	6	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	19	47197290	T	C	47197290	2806.77	266	146	120	60	0.45	256	0	0	NA	0	missense	0	NM_001079880	PRKD2	47177573	47220384	-	AAT	AGT	Asn	Ser	p.N473S	878	e11	19	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	19	50967685	C	T	50967685	403.77	34	16	18	60	0.53	99	0	0	rs570606672	5007;1	missense	0	NM_004533	MYBPC2	50936160	50969583	+	ACG	ATG	Thr	Met	p.T1104M	1141	e27	28	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	19	50967685	C	T	50967685	399.77	40	23	17	60	0.43	99	0	0	rs570606672	5007;1	missense	0	NM_004533	MYBPC2	50936160	50969583	+	ACG	ATG	Thr	Met	p.T1104M	1141	e27	28	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	19	50967685	C	T	50967685	242.77	22	12	10	60	0.45	99	0	0	rs570606672	5007;1	missense	0	NM_004533	MYBPC2	50936160	50969583	+	ACG	ATG	Thr	Met	p.T1104M	1141	e27	28	0	0	SNV
SJMPAL040034	SJMPAL040034_D2	19	51499371	T	A	51499371	79.77	194	177	17	60	0.09	86	0	0	NA	0	missense	0	NM_144505	KLK8	51499264	51504958	-	ACC	TCC	Thr	Ser	p.T288S	305	e6	6	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	19	54754872	C	G	54754872	1247.77	93	45	47	48.36	0.51	181	0	0	NA	0	missense	0	NM_001304457*	LILRB5	54754269	54761171	-	AGA	ACA	Arg	Thr	p.R588T	661	e13	13	0	0	SNV
SJMPAL040030	SJMPAL040030_D2	19	55966645	T	A	55966645	457.77	56	33	23	60	0.41	24	2	0|74	rs148825727	5007;1	missense	0	NM_024710	ISOC2	55964346	55973049	-	GAC	GTC	Asp	Val	p.D150V	221	e4	6	0	0	SNV
SJMPAL040030	SJMPAL040030_D3	19	55966645	T	A	55966645	314.77	18	6	12	60	0.67	24	2	0|74	rs148825727	5007;1	missense	0	NM_024710	ISOC2	55964346	55973049	-	GAC	GTC	Asp	Val	p.D150V	221	e4	6	0	0	SNV
SJMPAL040030	SJMPAL040030_D4	19	55966645	T	A	55966645	278.77	35	20	15	60	0.43	24	2	0|74	rs148825727	5007;1	missense	0	NM_024710	ISOC2	55964346	55973049	-	GAC	GTC	Asp	Val	p.D150V	221	e4	6	0	0	SNV
SJMPAL040030	SJMPAL040030_D5	19	55966645	T	A	55966645	313.77	39	21	18	60	0.46	24	2	0|74	rs148825727	5007;1	missense	0	NM_024710	ISOC2	55964346	55973049	-	GAC	GTC	Asp	Val	p.D150V	221	e4	6	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	19	56029497	C	T	56029497	1236.77	106	55	51	59.84	0.48	75	0	0	rs201172616	0	missense	0	NM_001144950	SSC5D	55999870	56030466	+	ACG	ATG	Thr	Met	p.T1285M	1573	e14	14	0	0	SNV
SJMPAL040037	SJMPAL040037_D3	19	56029497	C	T	56029497	498.77	77	48	29	60	0.38	75	0	0	rs201172616	0	missense	0	NM_001144950	SSC5D	55999870	56030466	+	ACG	ATG	Thr	Met	p.T1285M	1573	e14	14	0	0	SNV
SJMPAL040037	SJMPAL040037_D5	19	56029497	C	T	56029497	1361.77	202	130	71	59.97	0.35	75	0	0	rs201172616	0	missense	0	NM_001144950	SSC5D	55999870	56030466	+	ACG	ATG	Thr	Met	p.T1285M	1573	e14	14	0	0	SNV
SJMPAL040037	SJMPAL040037_D4	19	56029497	C	T	56029497	145.77	94	83	11	59.94	0.12	75	0	0	rs201172616	0	missense	0	NM_001144950	SSC5D	55999870	56030466	+	ACG	ATG	Thr	Met	p.T1285M	1573	e14	14	0	0	SNV
SJMPAL040037	SJMPAL040037_D2	19	57328011	C	T	57328011	615.77	43	22	21	60	0.49	26	0	0	rs56179588	5846.689941;13.31	missense	0	NM_001146186	PEG3	57321445	57336374	-	CGT	CAT	Arg	His	p.R600H	1588	e7	7	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL040037	SJMPAL040037_D3	19	57328011	C	T	57328011	648.77	41	21	20	60	0.49	26	0	0	rs56179588	5846.689941;13.31	missense	0	NM_001146186	PEG3	57321445	57336374	-	CGT	CAT	Arg	His	p.R600H	1588	e7	7	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL040037	SJMPAL040037_D5	19	57328011	C	T	57328011	832.77	64	38	26	60	0.41	26	0	0	rs56179588	5846.689941;13.31	missense	0	NM_001146186	PEG3	57321445	57336374	-	CGT	CAT	Arg	His	p.R600H	1588	e7	7	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL040037	SJMPAL040037_D4	19	57328011	C	T	57328011	534.77	46	28	18	60	0.39	26	0	0	rs56179588	5846.689941;13.31	missense	0	NM_001146186	PEG3	57321445	57336374	-	CGT	CAT	Arg	His	p.R600H	1588	e7	7	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL005001	SJMPAL005001_R4	19	59010920	C	A	59010920	115.77	109	95	12	60	0.11	54	0	0	NA	0	missense	0	NM_012254	SLC27A5	59009700	59023432	-	GTA	TTA	Val	Leu	p.V536L	690	e7	10	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL005001	SJMPAL005001_R4	20	2293602	G	A	2293602	1522.77	132	75	57	60	0.43	53	2	41|41	NA	0	missense	0	NM_003245	TGM3	2276613	2321725	+	CGC	CAC	Arg	His	p.R200H	693	e5	13	1	Confirm(0)Report(0)Unknown(1)	SNV
SJMPAL041122	SJMPAL041122_D2	20	14665540	G	A	14665540	1209.77	149	98	51	60	0.34	178	0	0	rs557866799	0	missense	0	NM_080676	MACROD2	13976146	16033841	+	CGT	CAT	Arg	His	p.R118H	425	e5	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041122	SJMPAL041122_D3	20	14665540	G	A	14665540	170.77	106	91	15	60	0.14	178	0	0	rs557866799	0	missense	0	NM_080676	MACROD2	13976146	16033841	+	CGT	CAT	Arg	His	p.R118H	425	e5	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL041122	SJMPAL041122_D4	20	14665540	G	A	14665540	743.77	117	84	33	60	0.28	178	0	0	rs557866799	0	missense	0	NM_080676	MACROD2	13976146	16033841	+	CGT	CAT	Arg	His	p.R118H	425	e5	17	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040033	SJMPAL040033_D2	20	20180469	C	T	20180469	748.77	73	36	37	60	0.51	71	2	0|81	NA	0	nonsense	0	NM_015585	CFAP61	20033158	20341346	+	CGA	TGA	Arg	*	p.R619*	1237	e17	27	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040033	SJMPAL040033_D3	20	20180469	C	T	20180469	584.77	52	29	23	60	0.44	71	2	0|81	NA	0	nonsense	0	NM_015585	CFAP61	20033158	20341346	+	CGA	TGA	Arg	*	p.R619*	1237	e17	27	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL040033	SJMPAL040033_D4	20	20180469	C	T	20180469	755.77	58	28	30	60	0.52	71	2	0|81	NA	0	nonsense	0	NM_015585	CFAP61	20033158	20341346	+	CGA	TGA	Arg	*	p.R619*	1237	e17	27	2	Confirm(2)Report(0)Unknown(0)	SNV
SJMPAL012425	SJMPAL012425_D2	20	34022221	C	T	34022221	506.77	46	24	21	60	0.46	60	0	0	NA	0	missense	0	NM_000557	GDF5	34021145	34025970	-	CGC	CAC	Arg	His	p.R331H	501	e2	2	0	0	SNV
SJMPAL012425	SJMPAL012425_D4	20	34022221	C	T	34022221	718.77	61	29	30	60	0.49	60	0	0	NA	0	missense	0	NM_000557	GDF5	34021145	34025970	-	CGC	CAC	Arg	His	p.R331H	501	e2	2	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	20	35545208	T	C	35545208	437.77	221	189	32	60	0.14	315	0	0	NA	0	missense	0	NM_015474	SAMHD1	35520227	35580246	-	AAT	GAT	Asn	Asp	p.N327D	626	e9	16	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	20	42744324	G	A	42744324	1555.77	142	57	76	60	0.54	191	0	0	NA	0	missense	0	NM_020433	JPH2	42740337	42816218	-	GCG	GTG	Ala	Val	p.A664V	696	e4	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	20	42744324	G	A	42744324	1285.77	114	46	62	60	0.54	191	0	0	NA	0	missense	0	NM_020433	JPH2	42740337	42816218	-	GCG	GTG	Ala	Val	p.A664V	696	e4	6	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL012420	SJMPAL012420_D2	20	46277765	G	A	46277765	511.77	32	13	19	60	0.59	37	0	0	NA	0	missense	0	NM_181659	NCOA3	46130601	46285621	+	CGA	CAA	Arg	Gln	p.R1188Q	1424	e19	23	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL012420	SJMPAL012420_D3	20	46277765	G	A	46277765	352.77	26	10	15	60	0.58	37	0	0	NA	0	missense	0	NM_181659	NCOA3	46130601	46285621	+	CGA	CAA	Arg	Gln	p.R1188Q	1424	e19	23	4	Confirm(4)Report(0)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	20	49576643	G	A	49576643	118.77	85	73	12	60	0.14	150	0	0	NA	0	missense	0	NM_014484	MOCS3	49575351	49578399	+	GTG	ATG	Val	Met	p.V422M	460	e1	1	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	20	52645217	G	A	52645217	827.77	95	59	36	60	0.38	60	0	0	NA	0	missense	0	NM_003657	BCAS1	52560079	52687304	-	CCG	CTG	Pro	Leu	p.P146L	584	e4	12	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	20	52645217	G	A	52645217	675.77	56	29	27	60	0.48	60	0	0	NA	0	missense	0	NM_003657	BCAS1	52560079	52687304	-	CCG	CTG	Pro	Leu	p.P146L	584	e4	12	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	20	55025735	TG	TTCGCCCTTTAC	55025736	4383.73	87	45	40	60.12	0.46	162	1	NA	NA	0	frame_shift_ins	0	NM_001164116	CASS4	54987168	55034396	+	AGT	AGT	Ser	Ser	p.S214fs	786	e5	7	0	0	INDEL
SJMPAL042787	SJMPAL042787_D3	20	55025735	TG	TTCGCCCTTTAC	55025736	4310.73	80	40	38	60	0.48	162	1	NA	NA	0	frame_shift_ins	0	NM_001164116	CASS4	54987168	55034396	+	AGT	AGT	Ser	Ser	p.S214fs	786	e5	7	0	0	INDEL
SJMPAL016342	SJMPAL016342_R1	20	57484429	A	G	57484429	179.77	462	424	38	60	0.08	246	0	0	NA	0	missense	0	NM_080425	GNAS	57428036	57486250	+	ACT	GCT	Thr	Ala	p.T847A	1037	e8	13	0	0	SNV
SJMPAL017976	SJMPAL017976_D2	20	60578217	G	A	60578217	1407.77	104	49	55	60	0.53	67	1	9	rs376636061	0	missense	0	NM_003185	TAF4	60549854	60640866	-	CGG	TGG	Arg	Trp	p.R829W	1085	e9	15	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D3	20	60578217	G	A	60578217	945.77	51	22	29	60	0.57	67	1	9	rs376636061	0	missense	0	NM_003185	TAF4	60549854	60640866	-	CGG	TGG	Arg	Trp	p.R829W	1085	e9	15	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL017976	SJMPAL017976_D4	20	60578217	G	A	60578217	484.77	77	55	22	60	0.29	67	1	9	rs376636061	0	missense	0	NM_003185	TAF4	60549854	60640866	-	CGG	TGG	Arg	Trp	p.R829W	1085	e9	15	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040039	SJMPAL040039_D2	21	14982892	A	G	14982892	4478.77	514	342	172	53.1	0.33	516	1	38	NA	0	missense	0	NM_174981	POTED	14982498	15013906	+	AGC	GGC	Ser	Gly	p.S115G	584	e1	11	0	0	SNV
SJMPAL040039	SJMPAL040039_D3	21	14982892	A	G	14982892	2285.77	273	185	87	52.43	0.32	516	1	38	NA	0	missense	0	NM_174981	POTED	14982498	15013906	+	AGC	GGC	Ser	Gly	p.S115G	584	e1	11	0	0	SNV
SJMPAL011911	SJMPAL011911_D1	21	19701534	C	T	19701534	2379.77	198	102	96	60	0.48	223	0	0	NA	0	missense	0	NM_002772	TMPRSS15	19641433	19775970	-	GAT	AAT	Asp	Asn	p.D578N	1019	e15	25	6	Confirm(6)Report(0)Unknown(0)	SNV
SJMPAL011911	SJMPAL011911_D2	21	19701534	C	T	19701534	2777.77	234	130	104	60	0.44	223	0	0	NA	0	missense	0	NM_002772	TMPRSS15	19641433	19775970	-	GAT	AAT	Asp	Asn	p.D578N	1019	e15	25	6	Confirm(6)Report(0)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D2	21	22696767	G	T	22696767	430.77	59	37	22	60	0.37	106	0	0	NA	0	missense	0	NM_004540	NCAM2	22370633	22912517	+	ATG	ATT	Met	Ile	p.M228I	837	e6	18	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	21	22696767	G	T	22696767	502.77	53	33	20	60	0.38	106	0	0	NA	0	missense	0	NM_004540	NCAM2	22370633	22912517	+	ATG	ATT	Met	Ile	p.M228I	837	e6	18	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	21	26979727	C	T	26979727	191.77	61	47	14	60	0.23	88	0	0	NA	0	missense	0	NM_080794	MRPL39	26957968	26979801	-	GGG	AGG	Gly	Arg	p.G21R	353	e1	11	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	21	26979727	C	T	26979727	NA	52	47	5	NA	0.10	88	0	0	NA	0	missense	0	NM_080794	MRPL39	26957968	26979801	-	GGG	AGG	Gly	Arg	p.G21R	353	e1	11	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	21	31588139	G	T	31588139	205.77	123	106	17	60	0.14	104	0	0	NA	0	missense	0	NM_199328	CLDN8	31586324	31588469	-	TTC	TTA	Phe	Leu	p.F35L	225	e1	1	0	0	SNV
SJMPAL011912	SJMPAL011912_D2	21	34060658	C	T	34060658	518.77	83	54	29	60	0.35	133	1	36	rs532075408	5006;2	missense	0	NM_003895	SYNJ1	34001069	34100351	-	CGT	CAT	Arg	His	p.R309H	1612	e7	32	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	21	39755677	T	C	39755677	101.77	123	111	12	60	0.10	118	0	0	NA	0	missense	0	NM_001243428	ERG	39751950	40032591	-	GAT	GGT	Asp	Gly	p.D370G	486	e12	12	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	21	39755677	T	C	39755677	272.77	113	95	18	60	0.16	118	0	0	NA	0	missense	0	NM_001243428	ERG	39751950	40032591	-	GAT	GGT	Asp	Gly	p.D370G	486	e12	12	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	21	45534565	G	A	45534565	30.77	210	194	16	60	0.08	253	0	0	rs566583942	5007;1	missense	0	NM_005049	PWP2	45527208	45551063	+	CGG	CAG	Arg	Gln	p.R129Q	919	e5	21	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	21	45810902	GTGGA	GTTTCCCTTG	45810906	528.73	89	78	9	60	0.10	39	0	NA	NA	0	frame_shift_ins	0	NM_003307	TRPM2	45773484	45862964	+	CAG	CAG	Gln	Gln	p.Q478fs	1503	e10	32	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	22	25445275	T	C	25445275	140.77	60	48	11	60	0.18	89	0	0	NA	0	missense	0	NM_001145206	KIAA1671	25423941	25593415	+	TCG	CCG	Ser	Pro	p.S1492P	1806	e4	11	0	0	SNV
SJMPAL012419	SJMPAL012419_D2	22	26105905	G	A	26105905	868.77	68	36	32	60	0.47	113	0	0	NA	0	missense	0	NM_005160	ADRBK2	25960861	26125258	+	GAC	AAC	Asp	Asn	p.D457N	688	e16	21	0	0	SNV
SJMPAL012419	SJMPAL012419_R2	22	26105905	G	A	26105905	1214.77	173	123	49	60	0.28	113	0	0	NA	0	missense	0	NM_005160	ADRBK2	25960861	26125258	+	GAC	AAC	Asp	Asn	p.D457N	688	e16	21	0	0	SNV
SJMPAL017975	SJMPAL017975_D2	22	28192799	A	ACGTCTTGT	28192799	718.73	28	18	8	60	0.29	23	0	NA	NA	0	frame_shift_ins	0	NM_002430	MN1	28144265	28197486	-	TTG	TTG	Leu	Leu	p.L1245fs	1320	e1	2	0	0	INDEL
SJMPAL004013	SJMPAL004013_D2	22	29138251	C	CT	29138251	114.73	77	62	9	60	0.12	124	0	NA	NA	0	frame_shift_ins	0	NM_172002	HSCB	29138043	29153496	+	TTC	TTC	Phe	Phe	p.F56fs	235	e1	6	0	0	INDEL
SJMPAL012419	SJMPAL012419_D2	22	29192125	C	CGCCG	29192125	439.73	36	26	8	60	0.22	33	0	NA	NA	0	frame_shift_ins	0	NM_005080	XBP1	29190548	29196560	-	CGT	CGT	Arg	Arg	p.R170fs	261	e4	5	0	0	INDEL
SJMPAL012419	SJMPAL012419_R2	22	29192125	C	CGCCG	29192125	1223.73	57	36	20	60	0.35	33	0	NA	NA	0	frame_shift_ins	0	NM_005080	XBP1	29190548	29196560	-	CGT	CGT	Arg	Arg	p.R170fs	261	e4	5	0	0	INDEL
SJMPAL046470	SJMPAL046470_D2	22	30769979	C	A	30769979	846.77	93	56	37	60	0.40	105	0	0	NA	0	missense	0	NM_001017437	CCDC157	30752627	30772818	+	ACC	AAC	Thr	Asn	p.T524N	752	e9	12	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	22	30769979	C	A	30769979	611.77	61	34	27	60	0.44	105	0	0	NA	0	missense	0	NM_001017437	CCDC157	30752627	30772818	+	ACC	AAC	Thr	Asn	p.T524N	752	e9	12	0	0	SNV
SJMPAL041122	SJMPAL041122_D3	22	37882029	T	C	37882029	137.77	46	36	9	60	0.20	71	0	0	NA	0	missense	0	NM_002405	MFNG	37865101	37882478	-	ACC	GCC	Thr	Ala	p.T63A	321	e1	8	0	0	SNV
SJMPAL041122	SJMPAL041122_D2	22	37882029	T	C	37882029	NA	51	46	5	NA	0.10	71	0	0	NA	0	missense	0	NM_002405	MFNG	37865101	37882478	-	ACC	GCC	Thr	Ala	p.T63A	321	e1	8	0	0	SNV
SJMPAL041122	SJMPAL041122_D4	22	37882029	T	C	37882029	NA	44	40	4	NA	0.09	71	0	0	NA	0	missense	0	NM_002405	MFNG	37865101	37882478	-	ACC	GCC	Thr	Ala	p.T63A	321	e1	8	0	0	SNV
SJMPAL016341	SJMPAL016341_D2	22	39147331	G	GGGGATCCGATCAGCTGATCA	39147331	7666.73	92	53	35	60	0.38	106	8	NA	NA	0	frame_shift_ins	0	NM_001199579	SUN2	39130719	39152024	-	CCA	CCA	Pro	Pro	p.P57fs	738	e3	18	0	0	INDEL
SJMPAL016341	SJMPAL016341_D4	22	39147331	G	GGGGATCCGATCAGCTGATCA	39147331	5723.73	69	38	27	60	0.39	106	8	NA	NA	0	frame_shift_ins	0	NM_001199579	SUN2	39130719	39152024	-	CCA	CCA	Pro	Pro	p.P57fs	738	e3	18	0	0	INDEL
SJMPAL016341	SJMPAL016341_D3	22	39147331	G	GGGGATCCGATCAGCTGATCA	39147331	NA	112	88	24	NA	0.21	106	8	NA	NA	0	frame_shift_ins	0	NM_001199579	SUN2	39130719	39152024	-	CCA	CCA	Pro	Pro	p.P57fs	738	e3	18	0	0	INDEL
SJMPAL041119	SJMPAL041119_D3	22	42273303	T	C	42273303	26.78	273	250	22	60	0.08	295	0	0	NA	0	missense	0	NM_004599	SREBF2	42229083	42303312	+	GTC	GCC	Val	Ala	p.V486A	1141	e8	19	0	0	SNV
SJMPAL041119	SJMPAL041119_D2	22	42273303	T	C	42273303	NA	238	226	12	NA	0.05	295	0	0	NA	0	missense	0	NM_004599	SREBF2	42229083	42303312	+	GTC	GCC	Val	Ala	p.V486A	1141	e8	19	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	22	44074010	G	A	44074010	1129.77	105	60	44	60	0.42	74	0	0	NA	0	nonsense	0	NM_022785	EFCAB6	43924624	44208217	-	CGA	TGA	Arg	*	p.R429*	1501	e13	32	5	Confirm(2)Report(3)Unknown(0)	SNV
SJMPAL046470	SJMPAL046470_D3	22	44074010	G	A	44074010	1227.77	72	28	44	60	0.61	74	0	0	NA	0	nonsense	0	NM_022785	EFCAB6	43924624	44208217	-	CGA	TGA	Arg	*	p.R429*	1501	e13	32	5	Confirm(2)Report(3)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	22	50596628	G	A	50596628	418.77	56	36	20	60	0.36	80	0	0	rs201034284	1310.689941;1.312	missense	0	NM_018995	MOV10L1	50528435	50600116	+	CGG	CAG	Arg	Gln	p.R1070Q	1211	e23	27	0	0	SNV
SJMPAL040027	SJMPAL040027_D2	22	51015041	C	T	51015041	701.77	95	63	32	60	0.34	105	0	0	rs368302579	0	missense	0	NM_001145137	CPT1B	51007290	51016506	-	CGG	CAG	Arg	Gln	p.R162Q	772	e4	19	0	0	SNV
SJMPAL040027	SJMPAL040027_D3	22	51015041	C	T	51015041	570.77	80	53	27	60	0.34	105	0	0	rs368302579	0	missense	0	NM_001145137	CPT1B	51007290	51016506	-	CGG	CAG	Arg	Gln	p.R162Q	772	e4	19	0	0	SNV
SJMPAL040027	SJMPAL040027_D4	22	51015041	C	T	51015041	1064.77	81	42	38	60	0.47	105	0	0	rs368302579	0	missense	0	NM_001145137	CPT1B	51007290	51016506	-	CGG	CAG	Arg	Gln	p.R162Q	772	e4	19	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	X	12736538	G	A	12736538	1099.77	75	36	39	60	0.52	103	1	41	rs376320353	0	missense	0	NM_014728	FRMPD4	12156585	12742642	+	CGG	CAG	Arg	Gln	p.R1198Q	1322	e16	17	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL042787	SJMPAL042787_D3	X	12736538	G	A	12736538	1118.77	81	45	36	60	0.44	103	1	41	rs376320353	0	missense	0	NM_014728	FRMPD4	12156585	12742642	+	CGG	CAG	Arg	Gln	p.R1198Q	1322	e16	17	2	Confirm(1)Report(1)Unknown(0)	SNV
SJMPAL004013	SJMPAL004013_D2	X	15270427	C	T	15270427	431.77	28	8	19	60	0.68	42	0	0	NA	0	missense	0	NM_001031739	ASB9	15262109	15288293	-	GTT	ATT	Val	Ile	p.V128I	294	e4	7	0	0	SNV
SJMPAL040033	SJMPAL040033_D2	X	17768353	C	T	17768353	236.77	11	2	9	60	0.82	27	0	0	NA	0	missense	0	NM_001037540	SCML1	17755569	17773108	+	CGG	TGG	Arg	Trp	p.R215W	329	e6	8	0	0	SNV
SJMPAL040033	SJMPAL040033_D3	X	17768353	C	T	17768353	828.77	37	9	28	60	0.76	27	0	0	NA	0	missense	0	NM_001037540	SCML1	17755569	17773108	+	CGG	TGG	Arg	Trp	p.R215W	329	e6	8	0	0	SNV
SJMPAL040033	SJMPAL040033_D4	X	17768353	C	T	17768353	278.77	27	16	11	60	0.41	27	0	0	NA	0	missense	0	NM_001037540	SCML1	17755569	17773108	+	CGG	TGG	Arg	Trp	p.R215W	329	e6	8	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	X	18219955	A	G	18219955	245.77	46	33	13	60	0.28	61	0	0	NA	0	missense	0	NM_153346	BEND2	18181051	18239024	-	GTC	GCC	Val	Ala	p.V338A	799	e6	14	0	0	SNV
SJMPAL046470	SJMPAL046470_D2	X	23397859	G	A	23397859	1176.77	233	171	62	60	0.27	175	2	0|71	NA	0	missense	0	NM_173495	PTCHD1	23352985	23414918	+	CGG	CAG	Arg	Gln	p.R168Q	888	e2	3	0	0	SNV
SJMPAL046470	SJMPAL046470_D3	X	23397859	G	A	23397859	1731.77	210	129	81	60	0.39	175	2	0|71	NA	0	missense	0	NM_173495	PTCHD1	23352985	23414918	+	CGG	CAG	Arg	Gln	p.R168Q	888	e2	3	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	X	34149407	G	A	34149407	308.77	49	33	16	60	0.33	34	0	0	NA	0	missense	0	NM_203408	FAM47A	34147869	34150447	-	CCG	CTG	Pro	Leu	p.P330L	791	e1	1	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	X	34149407	G	A	34149407	673.77	61	35	26	60	0.43	34	0	0	NA	0	missense	0	NM_203408	FAM47A	34147869	34150447	-	CCG	CTG	Pro	Leu	p.P330L	791	e1	1	0	0	SNV
SJMPAL044956	SJMPAL044956_D1	X	35970039	A	C	35970039	278.77	23	9	14	60	0.61	30	0	0	NA	0	missense	0	NM_152632	CHDC2	35937851	36008269	+	CAA	CAC	Gln	His	p.Q335H	976	e6	16	0	0	SNV
SJMPAL041117	SJMPAL041117_D2	X	37027622	C	T	37027622	134.77	113	101	12	60	0.11	87	0	0	NA	0	missense	0	NM_001013736	FAM47C	37026432	37029739	+	CCG	CTG	Pro	Leu	p.P380L	1035	e1	1	0	0	SNV
SJMPAL041117	SJMPAL041117_D3	X	37027622	C	T	37027622	1233.77	187	136	50	60	0.27	87	0	0	NA	0	missense	0	NM_001013736	FAM47C	37026432	37029739	+	CCG	CTG	Pro	Leu	p.P380L	1035	e1	1	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	X	46541938	T	C	46541938	47.77	82	72	8	60	0.10	121	0	0	NA	0	missense	0	NM_001257291	SLC9A7	46458686	46618607	-	ACC	GCC	Thr	Ala	p.T120A	726	e2	17	0	0	SNV
SJMPAL040028	SJMPAL040028_D2	X	49063003	C	T	49063003	2183.77	164	80	84	60	0.51	91	4	0|18|40|76	rs375373629	0	missense	0	NM_005183	CACNA1F	49061523	49089833	-	CGT	CAT	Arg	His	p.R1825H	1977	e46	48	0	0	SNV
SJMPAL040028	SJMPAL040028_D3	X	49063003	C	T	49063003	398.77	46	31	15	60	0.33	91	4	0|18|40|76	rs375373629	0	missense	0	NM_005183	CACNA1F	49061523	49089833	-	CGT	CAT	Arg	His	p.R1825H	1977	e46	48	0	0	SNV
SJMPAL040028	SJMPAL040028_D4	X	49063003	C	T	49063003	753.77	94	58	36	60	0.38	91	4	0|18|40|76	rs375373629	0	missense	0	NM_005183	CACNA1F	49061523	49089833	-	CGT	CAT	Arg	His	p.R1825H	1977	e46	48	0	0	SNV
SJMPAL043508	SJMPAL043508_R2	X	66766328	A	G	66766328	589.77	156	121	35	59.89	0.22	23	0	0	NA	0	missense	0	NM_000044	AR	66763874	66950461	+	TAT	TGT	Tyr	Cys	p.Y447C	920	e1	8	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	X	70330784	A	G	70330784	294.77	58	43	15	60	0.26	87	0	0	NA	0	missense	0	NM_000206	IL2RG	70327254	70331481	-	TCT	CCT	Ser	Pro	p.S78P	369	e2	8	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	X	70339233	C	CGT	70339233	1892.73	76	32	41	60	0.54	163	1	NA	rs199469681	0	frame_shift_ins	0	NM_005120	MED12	70338406	70362304	+	ACG	ACG	Thr	Thr	p.T37fs	2177	e2	45	0	0	INDEL
SJMPAL042787	SJMPAL042787_D3	X	70339233	C	CGT	70339233	1098.73	77	49	26	60	0.34	163	1	NA	rs199469681	0	frame_shift_ins	0	NM_005120	MED12	70338406	70362304	+	ACG	ACG	Thr	Thr	p.T37fs	2177	e2	45	0	0	INDEL
SJMPAL016447	SJMPAL016447_D2	X	71825410	C	G	71825410	85.77	84	74	10	60	0.12	68	0	0	NA	0	missense	0	NM_002637	PHKA1	71798664	71934029	-	AGC	ACC	Ser	Thr	p.S889T	1223	e24	32	0	0	SNV
SJMPAL016447	SJMPAL016447_D4	X	71825410	C	G	71825410	110.77	121	107	14	60	0.12	68	0	0	NA	0	missense	0	NM_002637	PHKA1	71798664	71934029	-	AGC	ACC	Ser	Thr	p.S889T	1223	e24	32	0	0	SNV
SJMPAL016447	SJMPAL016447_D3	X	71825410	C	G	71825410	NA	111	106	5	NA	0.05	68	0	0	NA	0	missense	0	NM_002637	PHKA1	71798664	71934029	-	AGC	ACC	Ser	Thr	p.S889T	1223	e24	32	0	0	SNV
SJMPAL012422	SJMPAL012422_D2	X	83372145	C	T	83372145	612.77	19	0	19	60	1.00	16	0	0	NA	0	missense	0	NM_014496	RPS6KA6	83313354	83442943	-	GGA	GAA	Gly	Glu	p.G291E	745	e11	22	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	X	83372145	C	T	83372145	275.9	10	1	9	60	0.90	16	0	0	NA	0	missense	0	NM_014496	RPS6KA6	83313354	83442943	-	GGA	GAA	Gly	Glu	p.G291E	745	e11	22	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	X	83372145	C	T	83372145	374.77	14	0	14	60	1.00	16	0	0	NA	0	missense	0	NM_014496	RPS6KA6	83313354	83442943	-	GGA	GAA	Gly	Glu	p.G291E	745	e11	22	0	0	SNV
SJMPAL041122	SJMPAL041122_D2	X	83724129	G	A	83724129	1412.77	145	96	49	60	0.34	122	1	41	NA	0	missense	0	NM_001177479	HDX	83572882	83757487	-	TCA	TTA	Ser	Leu	p.S201L	690	e4	11	0	0	SNV
SJMPAL041122	SJMPAL041122_D3	X	83724129	G	A	83724129	1334.77	94	51	43	60	0.46	122	1	41	NA	0	missense	0	NM_001177479	HDX	83572882	83757487	-	TCA	TTA	Ser	Leu	p.S201L	690	e4	11	0	0	SNV
SJMPAL041122	SJMPAL041122_D4	X	83724129	G	A	83724129	1448.77	132	81	51	60	0.39	122	1	41	NA	0	missense	0	NM_001177479	HDX	83572882	83757487	-	TCA	TTA	Ser	Leu	p.S201L	690	e4	11	0	0	SNV
SJMLL003311	SJMLL003311_D3	X	85769307	C	T	85769307	756.77	70	36	33	60	0.47	79	1	0	NA	0	missense	0	NM_053281	DACH2	85403455	86087605	+	CGT	TGT	Arg	Cys	p.R185C	599	e3	12	0	0	SNV
SJMLL003311	SJMLL003311_D4	X	85769307	C	T	85769307	1028.77	95	48	47	60	0.49	79	1	0	NA	0	missense	0	NM_053281	DACH2	85403455	86087605	+	CGT	TGT	Arg	Cys	p.R185C	599	e3	12	0	0	SNV
SJMPAL012422	SJMPAL012422_D2	X	92927372	A	G	92927372	2255.77	72	1	70	60	0.97	35	0	0	NA	0	missense	0	NM_004538	NAP1L3	92925925	92928682	-	ATT	ACT	Ile	Thr	p.I311T	506	e1	1	0	0	SNV
SJMPAL012422	SJMPAL012422_D3	X	92927372	A	G	92927372	2047.77	68	2	66	60	0.97	35	0	0	NA	0	missense	0	NM_004538	NAP1L3	92925925	92928682	-	ATT	ACT	Ile	Thr	p.I311T	506	e1	1	0	0	SNV
SJMPAL012422	SJMPAL012422_D4	X	92927372	A	G	92927372	1170.77	39	0	39	60	1.00	35	0	0	NA	0	missense	0	NM_004538	NAP1L3	92925925	92928682	-	ATT	ACT	Ile	Thr	p.I311T	506	e1	1	0	0	SNV
SJMPAL046468	SJMPAL046468_D2	X	92964725	C	T	92964725	843.77	27	1	26	60	0.96	25	0	0	rs374525042	0	missense	0	NM_001171110	FAM133A	92929012	92967273	+	CGG	TGG	Arg	Trp	p.R103W	248	e5	5	0	0	SNV
SJMPAL017973	SJMPAL017973_D2	X	101911715	G	C	101911715	2023.77	65	0	65	60	1.00	58	1	37	NA	0	missense	0	NM_014710	GPRASP1	101906294	101914010	+	GAG	GAC	Glu	Asp	p.E958D	1395	e5	5	0	0	SNV
SJMPAL017973	SJMPAL017973_D3	X	101911715	G	C	101911715	2273.77	72	1	71	60	0.99	58	1	37	NA	0	missense	0	NM_014710	GPRASP1	101906294	101914010	+	GAG	GAC	Glu	Asp	p.E958D	1395	e5	5	0	0	SNV
SJMLL003311	SJMLL003311_D3	X	105150502	G	A	105150502	615.77	40	19	21	60	0.53	227	4	34|36|40|41	NA	0	missense	0	NM_198465	NRK	105066536	105202602	+	CGG	CAG	Arg	Gln	p.R314Q	1582	e11	29	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMLL003311	SJMLL003311_D4	X	105150502	G	A	105150502	717.77	45	17	28	60	0.62	227	4	34|36|40|41	NA	0	missense	0	NM_198465	NRK	105066536	105202602	+	CGG	CAG	Arg	Gln	p.R314Q	1582	e11	29	1	Confirm(1)Report(0)Unknown(0)	SNV
SJMPAL040038	SJMPAL040038_D2	X	106840625	G	A	106840625	779.77	94	55	39	60	0.41	45	0	0	NA	0	missense	0	NM_032428	FRMPD3	106765680	106848474	+	GTG	ATG	Val	Met	p.V539M	1810	e15	16	0	0	SNV
SJMPAL040036	SJMPAL040036_D3	X	118109245	C	A	118109245	406.77	35	18	17	60	0.49	77	0	0	NA	0	missense	0	NM_001031855	LONRF3	118108577	118152318	+	CCC	ACC	Pro	Thr	p.P168T	759	e1	11	0	0	SNV
SJMPAL040036	SJMPAL040036_D4	X	118109245	C	A	118109245	362.77	33	15	18	60	0.55	77	0	0	NA	0	missense	0	NM_001031855	LONRF3	118108577	118152318	+	CCC	ACC	Pro	Thr	p.P168T	759	e1	11	0	0	SNV
SJMPAL040036	SJMPAL040036_D5	X	118109245	C	A	118109245	348.77	22	9	13	60	0.59	77	0	0	NA	0	missense	0	NM_001031855	LONRF3	118108577	118152318	+	CCC	ACC	Pro	Thr	p.P168T	759	e1	11	0	0	SNV
SJMPAL040036	SJMPAL040036_D2	X	118109245	C	A	118109245	504.77	48	27	21	60	0.44	77	0	0	NA	0	missense	0	NM_001031855	LONRF3	118108577	118152318	+	CCC	ACC	Pro	Thr	p.P168T	759	e1	11	0	0	SNV
SJMPAL041120	SJMPAL041120_D5	X	118986816	C	A	118986816	648.77	106	76	30	60	0.28	127	0	0	NA	0	missense	0	NM_080632	UPF3B	118967989	118986991	-	GGT	TGT	Gly	Cys	p.G26C	483	e1	11	0	0	SNV
SJMPAL040038	SJMPAL040038_D2	X	119064123	C	A	119064123	342.77	23	11	12	60	0.52	43	0	0	NA	0	missense	0	NM_024528	NKAP	119059013	119077735	-	GGC	GTC	Gly	Val	p.G310V	415	e8	9	0	0	SNV
SJMPAL043514	SJMPAL043514_D1	X	125299624	C	G	125299624	516.77	166	134	32	60	0.19	196	2	0|8	NA	0	missense	0	NM_001013628	DCAF12L2	125297482	125300080	-	GGC	GCC	Gly	Ala	p.G95A	463	e1	1	0	0	SNV
SJMPAL004013	SJMPAL004013_D2	X	128723924	A	G	128723924	605.77	127	97	30	60	0.24	181	0	0	NA	0	missense	0	NM_000276	OCRL	128674252	128726530	+	AAC	GAC	Asn	Asp	p.N858D	901	e23	24	0	0	SNV
SJMPAL042787	SJMPAL042787_D2	X	141290978	C	T	141290978	1015.77	67	34	33	60	0.49	85	2	9|41	rs377681284	0	missense	0	NM_016249	MAGEC2	141290128	141293076	-	GTC	ATC	Val	Ile	p.V266I	373	e3	3	0	0	SNV
SJMPAL042787	SJMPAL042787_D3	X	141290978	C	T	141290978	1274.77	92	49	42	59.87	0.46	85	2	9|41	rs377681284	0	missense	0	NM_016249	MAGEC2	141290128	141293076	-	GTC	ATC	Val	Ile	p.V266I	373	e3	3	0	0	SNV
