PMID: 33462484

Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature genetics

Sinnott-Armstrong, Nasa N, Tanigawa, Yosuke Y, Amar, David D, Mars, Nina N, Benner, Christian C, Aguirre, Matthew M, Venkataraman, Guhan Ram GR, Wainberg, Michael M, Ollila, Hanna M HM, Kiiskinen, Tuomo T, Havulinna, Aki S AS, Pirruccello, James P JP, Qian, Junyang J, Shcherbina, Anna A, , , Rodriguez, Fatima F, Assimes, Themistocles L TL, Agarwala, Vineeta V, Tibshirani, Robert R, Hastie, Trevor T, Ripatti, Samuli S, Pritchard, Jonathan K JK, Daly, Mark J MJ, Rivas, Manuel A MA

2021-02

1381 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
17-36047275-C-T	HNF1B	c.*100G>A	-	3-UTRSNV	9/9	-
20-39690342-T-C	TOP1	c.155+212T>C	-	IntronicSNV	-	3/20
17-36047417-A-G	HNF1B	c.1654-22T>C	-	IntronicSNV	-	8/8
18-60054857-A-C	TNFRSF11A	c.*2590A>C	-	3-UTRSNV	10/10	-
20-23584116-G-A	CST9	c.*31C>T	-	3-UTRSNV	2/2	-
16-56996211-G-A	CETP	c.118+202G>A	-	IntronicSNV	-	1/15
18-60054857-A-T	TNFRSF11A	c.*2590A>T	-	3-UTRSNV	10/10	-
1-67436446-A-G	MIER1	c.773-45A>G	-	IntronicSNV	-	8/13
1-154381103-A-G	IL6R	c.85+2913A>G	-	IntronicSNV	-	1/9
7-150690176-C-T	NOS3	c.1-716C>T	-	IntronicSNV	-	1/26
19-45392254-C-T	NECTIN2	c.*618C>T	-	3-UTRSNV	9/9	-
19-10332988-C-G	S1PR2	c.*1532G>C	-	3-UTRSNV	2/2	-
19-10332988-C-A	S1PR2	c.*1532G>T	-	3-UTRSNV	2/2	-
17-7139238-G-A	PHF23	c.997+11C>T	-	IntronicSNV	-	4/4
19-10332988-C-T	S1PR2	c.*1532G>A	-	3-UTRSNV	2/2	-
12-125322995-G-C	SCARB1	c.127-20742C>G	-	IntronicSNV	-	1/12
2-21265518-A-T	APOB	c.122-170T>A	-	IntronicSNV	-	2/28
12-125339228-A-C	SCARB1	c.126+8913T>G	-	IntronicSNV	-	1/12
11-2691500-G-A	KCNQ1	c.1514+8189G>A	-	IntronicSNV	-	11/15
1-93595306-G-C	MTF2	c.1160+301G>C	-	IntronicSNV	-	11/14
1-55518752-C-T	PCSK9	c.799+288C>T	-	IntronicSNV	-	5/11
6-20428432-C-A	E2F3	c.393+25576C>A	-	IntronicSNV	-	1/6
14-35871093-C-T	NFKBIA	c.*126G>A	-	3-UTRSNV	6/6	-
12-125322995-G-T	SCARB1	c.127-20742C>A	-	IntronicSNV	-	1/12
6-160985526-G-A	LPA	c.4632-6923C>T	-	IntronicSNV	-	28/38
8-19823648-A-T	LPL	c.*827A>T	-	3-UTRSNV	10/10	-
10-101605693-A-G	ABCC2	c.4146+154A>G	-	IntronicSNV	-	29/31
10-104740210-A-G	CNNM2	c.1621+60352A>G	-	IntronicSNV	-	1/7
4-24801834-C-G	SOD3	c.691C>G	p.R231G	Missense	2/2	-
1-159683438-C-G	CRP	c.552G>C	p.L184=	Synonymous	2/2	-
19-10334663-T-G	S1PR2	c.919A>C	p.R307=	Synonymous	2/2	-
7-45960645-G-C	IGFBP3	c.95C>G	p.A32G	Missense	1/5	-
1-21904131-T-C	ALPL	c.1565T>C	p.V522A	Missense	12/12	-
19-41354533-A-T	CYP2A6	c.479T>A	p.L160H	Missense	3/9	-
12-121416650-A-C	HNF1A	c.79A>C	p.I27L	Missense	1/10	-
3-122003769-A-G	CASR	c.2968A>G	p.R990G	Missense	7/7	-
4-100268190-A-C	ADH1C	c.232T>G	p.G78G	Missense	3/9	-
4-100268190-A-T	ADH1C	c.232T>A	p.G78R	Missense	3/9	-
17-16845167-A-G	TNFRSF13B	c.446-1342T>C	-	IntronicSNV	-	3/4
1-152280023-G-A	FLG	c.7339C>T	p.R2447*	Nonsense	3/3	-
19-38956839-C-T	RYR1	c.2979C>T	p.N993=	Synonymous	24/106	-
8-16012594-G-A	MSR1	c.877C>T	p.R293*	Nonsense	6/10	-
17-7187123-T-C	SLC2A4	c.390T>C	p.N130=	Synonymous	4/11	-
6-160560880-CATG-C	SLC22A1	c.1260_1262delGAT	p.M420del	InFrameDeletion	7/11	-
19-49259529-A-G	FGF21	c.36A>G	p.G12=	Synonymous	2/4	-
2-211543055-T-C	CPS1	c.*346T>C	-	3-UTRSNV	38/38	-
9-2640759-A-G	VLDLR	c.326-618A>G	-	IntronicSNV	-	3/18
2-234673239-G-A	UGT1A1	c.865-2441G>A	-	IntronicSNV	-	1/4
2-234673239-G-T	UGT1A1	c.865-2441G>T	-	IntronicSNV	-	1/4
2-233646728-A-G	GIGYF2	c.533-5132A>G	-	IntronicSNV	-	8/28
9-139389184-A-G	NOTCH1	c.*1339T>C	-	3-UTRSNV	34/34	-
19-45396219-C-T	TOMM40	c.435+33C>T	-	IntronicSNV	-	3/8
2-44072576-G-C	ABCG8	c.166-718G>C	-	IntronicSNV	-	2/12
2-44072576-G-T	ABCG8	c.166-718G>T	-	IntronicSNV	-	2/12
4-103198082-A-G	SLC39A8	c.841-8846T>C	-	IntronicSNV	-	6/8
2-233646728-A-T	GIGYF2	c.533-5132A>T	-	IntronicSNV	-	8/28
19-41353107-T-C	CYP2A6	c.655-151A>G	-	IntronicSNV	-	4/8
1-40035928-G-T	PABPC4	c.504-254C>A	-	IntronicSNV	-	3/15
19-45421204-C-T	APOC1	c.195-1226C>T	-	IntronicSNV	-	3/3
17-7571752-T-G	TP53	c.*1175A>C	-	3-UTRSNV	11/11	-
1-55518467-A-G	PCSK9	c.799+3A>G	-	IntronicSNV	-	5/11
9-140358556-C-T	PNPLA7	c.3226+22G>A	-	IntronicSNV	-	28/34
6-161013013-T-C	LPA	c.3630-880A>G	-	IntronicSNV	-	22/38
19-41353338-A-G	CYP2A6	c.655-382T>C	-	IntronicSNV	-	4/8
11-64323613-C-T	SLC22A11	c.142C>T	p.R48*	Nonsense	1/10	-
11-64527223-G-A	PYGM	c.148C>T	p.R50*	Nonsense	1/20	-
14-50960918-G-A	MAP4K5	c.167-8006C>T	-	IntronicSNV	-	3/32
2-227917083-G-C	COL4A4	c.2906C>G	p.S969*	Nonsense	32/48	-
9-107665978-C-T	ABCA1	c.1-18G>A	-	5-UTRSNV	2/50	-
19-38702777-C-A	DPF1	c.1094-4G>T	-	splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant	-	11/11
19-38702777-C-G	DPF1	c.1094-4G>C	-	splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant	-	11/11
19-38702777-C-T	DPF1	c.1094-4G>A	-	splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant	-	11/11
11-61624885-G-C	FADS2	c.806-41G>C	-	IntronicSNV	-	6/11
19-55854389-G-A	KMT5C	c.386+170G>A	-	IntronicSNV	-	4/8
12-57869582-T-C	ARHGAP9	c.1311+34A>G	-	IntronicSNV	-	10/17
16-88535407-C-G	ZFPM1	c.40+15321C>G	-	IntronicSNV	-	1/9
9-107665978-C-A	ABCA1	c.1-18G>T	-	5-UTRSNV	2/50	-
9-107665978-C-G	ABCA1	c.1-18G>C	-	5-UTRSNV	2/50	-
1-55517861-C-G	PCSK9	c.524-90C>G	-	IntronicSNV	-	3/11
11-61624885-G-T	FADS2	c.806-41G>T	-	IntronicSNV	-	6/11
6-160557154-G-A	SLC22A1	c.840-98G>A	-	IntronicSNV	-	4/10
6-160557154-G-C	SLC22A1	c.840-98G>C	-	IntronicSNV	-	4/10
12-53728369-G-A	SP7	c.21+1041C>T	-	IntronicSNV	-	2/2
17-7132192-C-T	DVL2	c.1034+96G>A	-	IntronicSNV	-	9/14
2-166618127-G-GA	GALNT3	c.838+287_838+287dup	-	IntronicInsertion	-	4/10
12-6493351-A-G	LTBR	c.1-174A>G	-	5-UTRSNV	1/10	-
12-56866962-C-T	GLS2	c.1449+50G>A	-	IntronicSNV	-	14/17
20-61341472-G-A	NTSR1	c.714+199G>A	-	IntronicSNV	-	1/3
2-234296650-G-A	DGKD	c.157-253G>A	-	IntronicSNV	-	1/29
17-7292685-A-G	TNK1	c.*282A>G	-	3-UTRSNV	13/13	-
17-7080069-A-G	ASGR1	c.355+80T>C	-	IntronicSNV	-	5/8
19-50139119-G-C	RRAS	c.454-10C>G	-	IntronicSNV	-	4/5
13-110959643-A-C	COL4A2	c.-277A>C	-	5_prime_UTR_variant	1/48	-
2-21265141-C-A	APOB	c.237+92G>T	-	IntronicSNV	-	3/28
12-96384345-T-C	HAL	c.716-35A>G	-	IntronicSNV	-	9/20
19-806256-A-G	PTBP1	c.971-152A>G	-	IntronicSNV	-	9/14
11-64021821-C-T	PLCB3	c.100-66C>T	-	IntronicSNV	-	1/30
10-81073763-G-T	ZMIZ1	c.*1257G>T	-	3-UTRSNV	25/25	-
6-32605583-A-G	HLA-DQA1	c.82+266A>G	-	IntronicSNV	-	1/4
19-54760691-C-A	LILRB5	c.71-55G>T	-	IntronicSNV	-	2/12
19-54760691-C-T	LILRB5	c.71-55G>A	-	IntronicSNV	-	2/12
11-244552-A-G	PSMD13	c.309+83A>G	-	IntronicSNV	-	5/12
10-81073763-G-C	ZMIZ1	c.*1257G>C	-	3-UTRSNV	25/25	-
1-67516316-T-A	SLC35D1	c.393-129A>T	-	IntronicSNV	-	4/11
16-72153518-G-A	PMFBP1	c.3007+232C>T	-	IntronicSNV	-	20/20
2-27598097-T-C	SNX17	c.774+77T>C	-	IntronicSNV	-	9/14
21-46271452-C-T	PTTG1IP	c.*44G>A	-	3-UTRSNV	6/6	-
10-71144324-G-A	HK1	c.1719+87G>A	-	IntronicSNV	-	11/17
8-144643169-C-A	GSDMD	c.580-3C>A	-	IntronicSNV	-	4/10
8-144643169-C-G	GSDMD	c.580-3C>G	-	IntronicSNV	-	4/10
8-144643169-C-T	GSDMD	c.580-3C>T	-	IntronicSNV	-	4/10
4-3447156-C-T	HGFAC	c.1102+79C>T	-	IntronicSNV	-	9/13
1-55518528-C-A	PCSK9	c.799+64C>A	-	IntronicSNV	-	5/11
3-132436901-AT-A	NPHP3	c.670+936delA	-	IntronicDeletion	-	3/26
17-18070761-G-A	MYO15A	c.9949-143G>A	-	IntronicSNV	-	61/65
1-214503489-T-A	SMYD2	c.706-22T>A	-	IntronicSNV	-	7/11
1-214503489-T-G	SMYD2	c.706-22T>G	-	IntronicSNV	-	7/11
16-3723046-C-G	TRAP1	c.1045-225G>C	-	IntronicSNV	-	9/17
6-51512707-T-C	PKHD1	c.11398+122A>G	-	IntronicSNV	-	63/66
6-2680732-C-T	MYLK4	c.688-207G>A	-	IntronicSNV	-	7/12
19-19388500-A-T	SUGP1	c.1781+43T>A	-	IntronicSNV	-	12/13
16-16256767-T-G	ABCC6	c.3506+83A>C	-	IntronicSNV	-	24/30
10-17750635-C-T	STAM	c.1210-140C>T	-	IntronicSNV	-	12/13
6-29912766-A-T	HLA-A	c.1013-70A>T	-	IntronicSNV	-	5/7
6-130374461-T-A	L3MBTL3	c.582+325T>A	-	IntronicSNV	-	7/22
19-54759666-T-C	LILRB5	c.656-221A>G	-	IntronicSNV	-	4/12
19-54756142-T-C	LILRB5	c.1576+87A>G	-	IntronicSNV	-	11/12
19-46003399-C-CT	PPM1N	c.1057+86_1057+86dup	-	IntronicInsertion	-	2/4
11-280000-G-A	NLRP6	c.350-84G>A	-	IntronicSNV	-	3/7
12-48499131-G-T	SENP1	c.-45+680C>A	-	intron_variant	-	1/17
11-64367589-A-G	SLC22A12	c.1285+227A>G	-	IntronicSNV	-	7/9
12-48499131-G-C	SENP1	c.-45+680C>G	-	intron_variant	-	1/17
17-67082962-C-G	ABCA6	c.3820-86G>C	-	IntronicSNV	-	29/38
19-2477316-G-A	GADD45B	c.369+67G>A	-	IntronicSNV	-	3/3
22-38505347-G-A	BAIAP2L2	c.52-132C>T	-	IntronicSNV	-	1/13
18-47096016-G-A	LIPG	c.571+98G>A	-	IntronicSNV	-	4/9
17-7192696-G-A	YBX2	c.1044+153C>T	-	IntronicSNV	-	7/8
2-176974104-G-T	HOXD11	c.*234G>T	-	3-UTRSNV	2/2	-
20-52774427-A-G	CYP24A1	c.1236+198T>C	-	IntronicSNV	-	9/11
4-3443931-A-G	HGFAC	c.117+86A>G	-	IntronicSNV	-	1/13
17-42988177-G-A	GFAP	c.1128-151C>T	-	IntronicSNV	-	6/8
3-119529113-G-T	NR1I2	c.331+72G>T	-	IntronicSNV	-	3/8
15-35185603-A-G	AQR	c.2571+261T>C	-	IntronicSNV	-	23/34
1-109810981-G-A	CELSR2	c.6319-222G>A	-	IntronicSNV	-	17/33
19-54666078-C-A	TMC4	c.1502-57G>T	-	intron_variant	-	10/14
19-3382274-C-T	NFIC	c.562+33C>T	-	IntronicSNV	-	2/10
5-34656475-G-A	RAI14	c.-154G>A	-	5_prime_UTR_variant	1/18	-
19-11347657-C-T	DOCK6	c.2074-102G>A	-	IntronicSNV	-	18/47
16-3599655-G-A	NLRC3	c.2519+42C>T	-	intron_variant	-	13/20
12-21343833-A-C	SLCO1B1	c.728-6047A>C	-	IntronicSNV	-	7/14
6-160969693-T-C	LPA	c.4974-2A>G	-	IntronicSNV	-	30/38
6-160969693-T-G	LPA	c.4974-2A>C	-	IntronicSNV	-	30/38
16-57017662-G-A	CETP	c.*84G>A	-	3-UTRSNV	16/16	-
15-79055163-G-A	ADAMTS7	c.4741-256C>T	-	IntronicSNV	-	22/23
15-79055163-G-T	ADAMTS7	c.4741-256C>A	-	IntronicSNV	-	22/23
2-211337590-T-G	LANCL1	c.82-790A>C	-	IntronicSNV	-	2/9
2-234677386-G-A	UGT1A1	c.1304+301G>A	-	IntronicSNV	-	4/4
2-234667809-C-T	UGT1A6	c.862-7871C>T	-	IntronicSNV	-	1/4
2-234674252-C-G	UGT1A1	c.865-1428C>G	-	IntronicSNV	-	1/4
2-234674252-C-T	UGT1A1	c.865-1428C>T	-	IntronicSNV	-	1/4
19-36044502-A-G	ATP4A	c.2605+106T>C	-	IntronicSNV	-	17/21
6-2030894-T-C	GMDS	c.346-69694A>G	-	IntronicSNV	-	4/10
19-11216617-G-A	LDLR	c.694+341G>A	-	IntronicSNV	-	4/17
16-57010486-C-T	CETP	c.981+1423C>T	-	IntronicSNV	-	10/15
6-35620550-C-A	FKBP5	c.1-9949G>T	-	IntronicSNV	-	1/10
6-35620550-C-T	FKBP5	c.1-9949G>A	-	IntronicSNV	-	1/10
19-39034534-T-C	RYR1	c.12012+19T>C	-	IntronicSNV	-	87/105
16-55842408-T-C	CES1	c.1318+2021A>G	-	IntronicSNV	-	11/13
16-57007446-T-G	CETP	c.930+24T>G	-	IntronicSNV	-	9/15
16-57010948-T-G	CETP	c.982-1055T>G	-	IntronicSNV	-	10/15
16-57007192-T-C	CETP	c.751-51T>C	-	IntronicSNV	-	8/15
6-160571499-A-G	SLC22A1	c.1386-4331A>G	-	IntronicSNV	-	8/10
6-7231843-G-A	RREB1	c.3511G>A	p.D1171N	Missense	10/13	-
17-41225783-A-T	BRCA1	c.4675+565T>A	-	IntronicSNV	-	14/22
4-89074405-T-C	ABCG2	c.-20+5133A>G	-	intron_variant	-	1/15
9-107579880-C-T	ABCA1	c.3463-195G>A	-	IntronicSNV	-	23/49
6-161006077-C-A	LPA	c.4289+1G>T	-	IntronicSNV	-	26/38
6-161006077-C-T	LPA	c.4289+1G>A	-	IntronicSNV	-	26/38
6-161068320-C-G	LPA	c.210-893G>C	-	IntronicSNV	-	2/38
4-89030920-C-A	ABCG2	c.1195-2502G>T	-	IntronicSNV	-	9/15
4-89030920-C-G	ABCG2	c.1195-2502G>C	-	IntronicSNV	-	9/15
4-89050108-T-G	ABCG2	c.531+2105A>C	-	IntronicSNV	-	5/15
7-127015083-G-A	ZNF800	c.307C>T	p.P103S	Missense	5/6	-
1-154988957-A-G	ZBTB7B	c.1416A>G	p.P472=	Synonymous	3/3	-
19-5831724-T-C	FUT6	c.855A>G	p.P285=	Synonymous	3/3	-
1-180905694-C-T	KIAA1614	c.2649C>T	p.N883=	Synonymous	5/9	-
6-31237858-T-C	HLA-C	c.900A>G	p.P300=	Synonymous	5/8	-
6-33048606-G-C	HLA-DPB1	c.258G>C	p.E86D	Missense	2/6	-
1-156784982-T-C	SH2D2A	c.155A>G	p.N52S	Missense	3/9	-
6-31323233-A-G	HLA-B	c.756T>C	p.T252=	Synonymous	4/8	-
4-88258483-T-C	HSD17B11	c.848A>G	p.R283R	Missense	7/7	-
14-100795139-G-T	SLC25A47	c.404G>T	p.R135L	Missense	5/6	-
8-145747920-T-G	LRRC24	c.1481A>C	p.E494A	Missense	5/5	-
20-60893639-G-C	LAMA5	c.7110C>G	p.T2370=	Synonymous	53/80	-
16-29994922-C-T	TAOK2	c.1359C>T	p.S453=	Synonymous	13/16	-
6-31239518-C-T	HLA-C	c.201G>A	p.P67=	Synonymous	2/8	-
2-21266774-GGCAGCGCCA-G	APOB	c.35_43delTGGCGCTGC	p.L12_L14del	InFrameDeletion	1/29	-
10-64564934-C-G	ADO	c.115C>G	p.P39A	Missense	1/1	-
11-118765283-G-A	CXCR5	c.1030G>A	p.G344S	Missense	2/2	-
19-58549322-C-T	ZSCAN1	c.118C>T	p.R40C	Missense	3/6	-
16-2154537-G-A	PKD1	c.8123C>T	p.T2708M	Missense	22/46	-
12-21329761-G-A	SLCO1B1	c.411G>A	p.S137=	Synonymous	5/15	-
16-57003323-G-A	CETP	c.259G>A	p.A87T	Missense	3/16	-
6-31237776-C-T	HLA-C	c.982G>A	p.V328I	Missense	5/8	-
12-21391976-A-C	SLCO1B1	c.1929A>C	p.L643F	Missense	15/15	-
19-12429782-G-A	ZNF563	c.1057C>T	p.R353*	Nonsense	4/4	-
6-161026197-G-A	LPA	c.2826C>T	p.H942=	Synonymous	18/39	-
2-21229446-G-C	APOB	c.10294C>G	p.Q3432E	Missense	26/29	-
11-14865399-C-T	PDE3B	c.2347C>T	p.R783*	Nonsense	12/16	-
11-14854367-C-T	PDE3B	c.2194C>T	p.R732*	Nonsense	10/16	-
22-44324730-C-T	PNPLA3	c.447C>T	p.P149=	Synonymous	3/9	-
11-116642137-C-T	BUD13	c.144-1199G>A	-	IntronicSNV	-	1/9
12-121177778-A-G	ACADS	c.*527A>G	-	3-UTRSNV	10/10	-
17-29494693-C-A	NF1	c.480-2216C>A	-	IntronicSNV	-	4/57
17-29494693-C-G	NF1	c.480-2216C>G	-	IntronicSNV	-	4/57
14-94843565-T-C	SERPINA1	c.*1221A>G	-	3-UTRSNV	5/5	-
11-2858295-C-T	KCNQ1	c.1795-10702C>T	-	IntronicSNV	-	15/15
14-94843565-T-G	SERPINA1	c.*1221A>C	-	3-UTRSNV	5/5	-
9-107669073-T-C	ABCA1	c.1-3113A>G	-	IntronicSNV	-	1/49
1-55519174-G-A	PCSK9	c.799+710G>A	-	IntronicSNV	-	5/11
8-19815189-C-T	LPL	c.1019-1582C>T	-	IntronicSNV	-	6/9
11-61600342-A-C	FADS2	c.207+4273A>C	-	IntronicSNV	-	1/11
1-110470592-G-A	CSF1	c.*14-882G>A	-	intron_variant	-	8/8
1-151793174-G-T	RORC	c.71-3418C>A	-	IntronicSNV	-	2/10
11-128328913-G-T	ETS1	c.*3343C>A	-	3-UTRSNV	10/10	-
11-117156893-G-A	RNF214	c.*1026G>A	-	IntergenicSNV	15/15	-
11-117156893-G-C	RNF214	c.*1026G>C	-	IntergenicSNV	15/15	-
11-117156893-G-T	RNF214	c.*1026G>T	-	IntergenicSNV	15/15	-
2-21226560-A-G	APOB	c.12088-354T>C	-	IntronicSNV	-	28/28
4-9924319-A-G	SLC2A9	c.815-2123T>C	-	IntronicSNV	-	6/11
9-107647019-C-T	ABCA1	c.161-170G>A	-	IntronicSNV	-	3/49
1-55526685-G-A	PCSK9	c.1682-363G>A	-	IntronicSNV	-	10/11
11-128328913-G-A	ETS1	c.*3343C>T	-	3-UTRSNV	10/10	-
10-71094504-T-C	HK1	c.64-9079T>C	-	IntronicSNV	-	1/17
1-21904529-C-T	ALPL	c.*388C>T	-	3-UTRSNV	12/12	-
2-25512438-T-G	DNMT3A	c.178-6858A>C	-	IntronicSNV	-	3/22
11-72952496-G-A	P2RY2	c.*6158G>A	-	3-UTRSNV	3/3	-
14-94756943-G-A	SERPINA10	c.1-13C>T	-	5-UTRSNV	2/5	-
14-94756943-G-C	SERPINA10	c.1-13C>G	-	5-UTRSNV	2/5	-
11-32410337-C-G	WT1	c.*267G>C	-	3-UTRSNV	10/10	-
19-46178661-T-C	GIPR	c.633+577T>C	-	IntronicSNV	-	7/13
15-75079474-G-A	CSK	c.-66+4413G>A	-	intron_variant	-	1/12
11-8255408-C-A	LMO1	c.26-3357G>T	-	IntronicSNV	-	1/3
11-2857897-G-T	KCNQ1	c.1795-11100G>T	-	IntronicSNV	-	15/15
11-2857897-G-A	KCNQ1	c.1795-11100G>A	-	IntronicSNV	-	15/15
11-2857297-G-A	KCNQ1	c.1795-11700G>A	-	IntronicSNV	-	15/15
15-75079474-G-T	CSK	c.-66+4413G>T	-	intron_variant	-	1/12
19-11331354-G-T	DOCK6	c.3550+1173C>A	-	IntronicSNV	-	28/47
2-88423510-A-G	FABP1	c.333+503T>C	-	IntronicSNV	-	3/3
12-7075882-C-T	PHB2	c.790-219G>A	-	IntronicSNV	-	7/9
16-16256767-T-A	ABCC6	c.3506+83A>T	-	IntronicSNV	-	24/30
19-45400747-T-A	TOMM40	c.644-3240T>A	-	IntronicSNV	-	5/8
19-45379791-C-T	NECTIN2	c.1042+2056C>T	-	IntronicSNV	-	5/8
12-125296964-C-T	SCARB1	c.631-453G>A	-	IntronicSNV	-	4/12
11-126273386-G-A	ST3GAL4	c.1-2665G>A	-	IntronicSNV	-	1/10
11-126273386-G-T	ST3GAL4	c.1-2665G>T	-	IntronicSNV	-	1/10
17-7508239-T-C	FXR2	c.228+724A>G	-	IntronicSNV	-	3/16
11-116649538-A-G	ZPR1	c.*103T>C	-	3-UTRSNV	14/14	-
19-41731175-A-G	AXL	c.586+3214A>G	-	IntronicSNV	-	4/19
2-27734972-G-A	GCKR	c.1422+3854G>A	-	IntronicSNV	-	16/18
13-28604007-T-C	FLT3	c.1943-1582A>G	-	IntronicSNV	-	15/23
11-63877163-C-T	FLRT1	c.-50+5510C>T	-	intron_variant	-	2/2
13-28604007-T-G	FLT3	c.1943-1582A>C	-	IntronicSNV	-	15/23
14-93118229-C-T	RIN3	c.835C>T	p.R279C	Missense	6/10	-
14-94672731-T-C	PPP4R4	c.192-2070T>C	-	IntronicSNV	-	2/24
6-41703041-G-A	TFEB	c.-23+47C>T	-	intron_variant	-	1/8
11-47306630-C-T	MADD	c.2296C>T	p.R766*	Nonsense	13/36	-
1-151804213-G-A	RORC	c.28C>T	p.R10*	Nonsense	1/11	-
12-21375289-C-T	SLCO1B1	c.1738C>T	p.R580*	Nonsense	13/15	-
19-11350874-C-T	ANGPTL8	c.361C>T	p.Q121*	Nonsense	2/4	-
19-7211311-C-A	INSR	c.653-26663G>T	-	IntronicSNV	-	2/21
4-3449915-A-G	HGFAC	c.1697A>G	p.K566R	Missense	13/14	-
16-20392332-G-A	PDILT	c.409+3635C>T	-	IntronicSNV	-	3/11
16-2153765-G-A	PKD1	c.8293C>T	p.R2765C	Missense	23/46	-
11-14900931-G-A	CYP2R1	c.1059C>T	p.D353=	Synonymous	4/5	-
19-7211311-C-G	INSR	c.653-26663G>C	-	IntronicSNV	-	2/21
22-24981938-C-T	LRRC75B	c.864G>A	p.A288=	Synonymous	4/4	-
1-161478810-G-A	FCGR2A	c.365-800G>A	-	IntronicSNV	-	3/6
1-161478859-T-C	FCGR2A	c.365-751T>C	-	IntronicSNV	-	3/6
19-19368832-G-T	HAPLN4	c.1003C>A	p.P335T	Missense	5/5	-
6-24266331-C-T	DCDC2	c.922+11946G>A	-	IntronicSNV	-	7/9
12-6885076-G-A	LAG3	c.1057+362G>A	-	IntronicSNV	-	5/7
20-62711459-C-T	OPRL1	c.-431C>T	-	5_prime_UTR_variant	1/5	-
1-20141060-G-A	RNF186	c.535C>T	p.R179*	Nonsense	1/1	-
5-131640536-A-C	SLC22A4	c.394-7318A>C	-	IntronicSNV	-	1/9
5-131640536-A-G	SLC22A4	c.394-7318A>G	-	IntronicSNV	-	1/9
2-213185233-A-G	ERBB4	c.83-195605T>C	-	IntronicSNV	-	1/27
12-125311720-C-T	SCARB1	c.127-9467G>A	-	IntronicSNV	-	1/12
19-45421877-A-C	APOC1	c.195-553A>C	-	IntronicSNV	-	3/3
19-45421877-A-G	APOC1	c.195-553A>G	-	IntronicSNV	-	3/3
19-45421877-A-T	APOC1	c.195-553A>T	-	IntronicSNV	-	3/3
8-145158607-G-A	SHARPIN	c.50C>T	p.S17F	Missense	1/9	-
17-7460758-G-A	TNFSF12	c.498+539G>A	-	3-UTRSNV	7/7	-
17-7485131-A-G	CD68	c.*302A>G	-	3-UTRSNV	6/6	-
6-26124634-C-T	H2AC6	c.174C>T	p.Y58=	Synonymous	1/1	-
9-4860964-T-C	RCL1	c.*689T>C	-	3-UTRSNV	9/9	-
20-23618488-G-A	CST3	c.12C>T	p.P4=	Synonymous	1/3	-
9-139107879-C-T	QSOX2	c.1209+567G>A	-	IntronicSNV	-	9/11
11-65354926-G-A	EHBP1L1	c.3933+1864G>A	-	IntronicSNV	-	12/18
16-73024276-C-T	ZFHX3	c.1-30232G>A	-	IntronicSNV	-	1/9
1-154986091-T-C	ZBTB7B	c.1-1046T>C	-	IntronicSNV	-	1/2
10-60304864-A-C	BICC1	c.190+31771A>C	-	IntronicSNV	-	1/20
6-35389999-G-A	PPARD	c.424+264G>A	-	IntronicSNV	-	5/7
5-53283630-T-A	ARL15	c.463-101087A>T	-	IntronicSNV	-	4/4
9-136145404-C-A	ABO	c.28+5174G>T	-	IntronicSNV	-	1/7
22-44324855-G-A	PNPLA3	c.486+86G>A	-	IntronicSNV	-	3/8
10-6095928-C-A	IL2RA	c.64+8123G>T	-	IntronicSNV	-	1/7
6-33048466-G-T	HLA-DPB1	c.118G>T	p.G40*	Nonsense	2/6	-
6-35389999-G-T	PPARD	c.424+264G>T	-	IntronicSNV	-	5/7
12-111600134-G-T	CUX2	c.64-51870G>T	-	IntronicSNV	-	1/21
15-76304503-A-G	NRG4	c.-57+157T>C	-	intron_variant	-	1/5
20-3687141-C-A	SIGLEC1	c.262G>T	p.E88*	Nonsense	3/22	-
2-232325692-A-G	NCL	c.614-115T>C	-	IntronicSNV	-	3/13
2-232325692-A-C	NCL	c.614-115T>G	-	IntronicSNV	-	3/13
19-815086-A-C	PLPPR3	c.404-5T>G	-	IntronicSNV	-	4/7
19-815086-A-G	PLPPR3	c.404-5T>C	-	IntronicSNV	-	4/7
19-815086-A-T	PLPPR3	c.404-5T>A	-	IntronicSNV	-	4/7
8-145641417-G-A	SLC39A4	c.251C>T	p.P84L	Missense	2/12	-
19-38810744-C-G	KCNK6	c.154C>G	p.P52A	Missense	1/3	-
16-82033810-G-A	SDR42E1	c.88C>T	p.Q30*	Nonsense	3/3	-
5-64020316-T-G	SREK1IP1	c.363A>C	p.K121N	Missense	5/5	-
4-72629558-C-T	GC	c.569G>A	p.C190Y	Missense	5/13	-
1-21903966-T-C	ALPL	c.1400T>C	p.M467T	Missense	12/12	-
17-73322019-C-T	GRB2	c.259G>A	p.E87K	Missense	4/6	-
1-184865132-T-A	FAM129A	c.187-1792A>T	-	IntronicSNV	-	2/13
19-54755922-C-T	LILRB5	c.1624G>A	p.A542T	Missense	12/13	-
17-1636950-C-A	WDR81	c.4619C>A	p.P1540H	Missense	7/10	-
8-22876739-C-G	RHOBTB2	c.*1757C>G	-	3-UTRSNV	10/10	-
19-45384931-G-A	NECTIN2	c.1043-537G>A	-	IntronicSNV	-	5/8
10-1065710-C-T	GTPBP4	c.*2543C>T	-	IntergenicSNV	17/17	-
19-49203829-C-T	FUT2	c.1-2385C>T	-	IntronicSNV	-	1/1
10-16930738-G-A	CUBN	c.8756-173C>T	-	IntronicSNV	-	55/66
2-234665983-A-G	UGT1A6	c.862-9697A>G	-	IntronicSNV	-	1/4
8-22876739-C-T	RHOBTB2	c.*1757C>T	-	3-UTRSNV	10/10	-
19-41826020-A-C	CCDC97	c.782-226A>C	-	IntronicSNV	-	3/4
19-41826020-A-G	CCDC97	c.782-226A>G	-	IntronicSNV	-	3/4
14-73011885-A-G	RGS6	c.1422+5083A>G	-	IntronicSNV	-	17/17
19-49201217-C-T	FUT2	c.-3+1871C>T	-	intron_variant	-	1/1
22-24919586-G-A	UPB1	c.917-1G>A	-	IntronicSNV	-	8/9
16-72144174-T-C	DHX38	c.3478-681T>C	-	IntronicSNV	-	25/26
16-72144174-T-G	DHX38	c.3478-681T>G	-	IntronicSNV	-	25/26
1-55583210-G-A	USP24	c.4508+3059C>T	-	IntronicSNV	-	38/67
8-41630447-G-A	ANK1	c.28-14792C>T	-	IntronicSNV	-	1/42
19-52115944-C-G	SIGLEC5	c.1465-269G>C	-	IntronicSNV	-	8/8
5-131330752-C-A	ACSL6	c.50-808G>T	-	IntronicSNV	-	1/20
5-131330752-C-T	ACSL6	c.50-808G>A	-	IntronicSNV	-	1/20
3-52848207-C-T	ITIH4	c.2626+18G>A	-	IntronicSNV	-	22/23
19-45382675-G-A	NECTIN2	c.1043-2793G>A	-	IntronicSNV	-	5/8
19-45382675-G-T	NECTIN2	c.1043-2793G>T	-	IntronicSNV	-	5/8
13-30084952-G-A	SLC7A1	c.*3665C>T	-	3-UTRSNV	13/13	-
12-48185165-G-A	HDAC7	c.1934-74C>T	-	IntronicSNV	-	15/25
12-122614060-G-T	MLXIP	c.697-75G>T	-	intron_variant	-	4/16
12-100795699-A-G	SLC17A8	c.763+58A>G	-	IntronicSNV	-	6/11
19-53855252-G-A	ZNF845	c.1324G>A	p.E442K	Missense	4/4	-
17-76131070-G-A	TMC8	c.1107G>A	p.E369=	Synonymous	9/16	-
1-145561116-G-A	ANKRD35	c.804G>A	p.Q268=	Synonymous	10/14	-
19-4954644-C-G	UHRF1	c.1958-18C>G	-	IntronicSNV	-	14/17
19-4954644-C-T	UHRF1	c.1958-18C>T	-	IntronicSNV	-	14/17
19-52130830-C-A	SIGLEC5	c.1167G>T	p.G389=	Synonymous	6/9	-
8-145756170-G-A	ARHGAP39	c.3066C>T	p.D1022=	Synonymous	10/11	-
19-46394268-G-A	MYPOP	c.813C>T	p.N271=	Synonymous	3/3	-
16-88528526-C-G	ZFPM1	c.40+8440C>G	-	IntronicSNV	-	1/9
11-76922946-G-A	MYO7A	c.6318G>A	p.K2106=	Synonymous	46/49	-
19-1627365-A-G	TCF3	c.359T>C	p.L120P	Missense	6/19	-
16-88536774-T-A	ZFPM1	c.41-15573T>A	-	IntronicSNV	-	1/9
1-220219713-C-A	EPRS1	c.18G>T	p.L6=	Synonymous	1/32	-
1-21808122-C-A	NBPF3	c.1466C>A	p.P489H	Missense	13/15	-
7-129685597-G-A	ZC3HC1	c.258+3276C>T	-	IntronicSNV	-	2/9
4-3449781-G-A	HGFAC	c.1636+19G>A	-	IntronicSNV	-	12/13
19-45549135-G-A	CLASRP	c.99+5566G>A	-	IntronicSNV	-	2/20
19-19366632-C-T	HAPLN4	c.*1994G>A	-	3-UTRSNV	5/5	-
1-145507646-G-T	RBM8A	c.1-21G>T	-	5-UTRSNV	1/6	-
1-145507646-G-A	RBM8A	c.1-21G>A	-	5-UTRSNV	1/6	-
10-17756975-A-T	STAM	c.*196A>T	-	3-UTRSNV	14/14	-
12-121423659-A-G	HNF1A	c.327-2977A>G	-	IntronicSNV	-	1/9
8-133882056-G-A	TG	c.259G>A	p.G87R	Missense	3/48	-
1-21866564-G-A	ALPL	c.1-14011G>A	-	IntronicSNV	-	1/11
8-126445055-G-A	TRIB1	c.361-504G>A	-	IntronicSNV	-	1/2
1-27180088-A-C	ZDHHC18	c.1050-129A>C	-	IntronicSNV	-	7/7
11-68840399-G-A	TPCN2	c.1160G>A	p.G387D	Missense	13/25	-
14-24871926-C-T	NYNRIN	c.198+3276C>T	-	IntronicSNV	-	2/8
6-160679656-A-AT	SLC22A2	c.133_134insA	p.F45Yfs*4	Frameshift	1/11	-
8-145955007-T-C	ZNF251	c.278-6240A>G	-	IntronicSNV	-	4/4
1-155161794-C-T	MUC1	c.159+180G>A	-	IntronicSNV	-	2/7
1-155034632-C-G	ADAM15	c.2425-89C>G	-	IntronicSNV	-	21/22
20-52787302-A-G	CYP24A1	c.543+814T>C	-	IntronicSNV	-	3/11
11-2798804-A-C	KCNQ1	c.1733-402A>C	-	IntronicSNV	-	14/15
17-78078759-C-A	GAA	c.374C>A	p.P125H	Missense	2/20	-
6-132049657-C-A	ENPP3	c.1953+2317C>A	-	IntronicSNV	-	20/24
20-44537837-T-C	PLTP	c.485+318A>G	-	IntronicSNV	-	5/15
17-36046451-G-C	HNF1B	c.*924C>G	-	3-UTRSNV	9/9	-
11-32927778-G-T	QSER1	c.209+12898G>T	-	intron_variant	-	1/12
2-120824615-C-T	EPB41L5	c.286-6139C>T	-	IntronicSNV	-	3/24
17-7185779-C-A	SLC2A4	c.33+493C>A	-	IntronicSNV	-	1/10
1-23786203-C-T	ASAP3	c.130-3516G>A	-	IntronicSNV	-	1/24
10-91002845-C-T	LIPA	c.229+2588G>A	-	IntronicSNV	-	3/9
7-87005091-T-C	CROT	c.750+50T>C	-	IntronicSNV	-	8/17
9-132566666-G-A	TOR1B	c.465+49G>A	-	IntronicSNV	-	2/4
5-34796075-G-A	RAI14	c.199G>A	p.E67K	Missense	4/18	-
19-1632344-A-G	TCF3	c.206T>C	p.F69S	Missense	4/19	-
17-7251134-C-A	ACAP1	c.1344-107C>A	-	IntronicSNV	-	14/21
17-7251134-C-T	ACAP1	c.1344-107C>T	-	IntronicSNV	-	14/21
11-128611628-G-A	FLI1	c.19-16382G>A	-	IntronicSNV	-	1/8
1-21924912-A-G	RAP1GAP	c.1860T>C	p.T620=	Synonymous	22/25	-
19-4055180-G-C	ZBTB7A	c.51C>G	p.S17R	Missense	2/3	-
4-3443769-C-T	HGFAC	c.41C>T	p.P14L	Missense	1/14	-
11-128611628-G-C	FLI1	c.19-16382G>C	-	IntronicSNV	-	1/8
17-1964018-G-A	HIC1	c.*1889G>A	-	IntergenicSNV	2/2	-
10-91067438-T-C	IFIT2	c.*306T>C	-	3-UTRSNV	2/2	-
15-63598430-T-A	APH1B	c.*450T>A	-	3-UTRSNV	6/6	-
15-63598430-T-G	APH1B	c.*450T>G	-	3-UTRSNV	6/6	-
15-99506740-G-A	IGF1R	c.*6069G>A	-	3-UTRSNV	21/21	-
19-45421100-G-A	APOC1	c.195-1330G>A	-	IntronicSNV	-	3/3
2-26149502-A-C	KIF3C	c.*2345T>G	-	3-UTRSNV	8/8	-
2-26149502-A-G	KIF3C	c.*2345T>C	-	3-UTRSNV	8/8	-
14-100789775-C-T	SLC25A47	c.24C>T	p.I8=	Synonymous	1/6	-
17-77759691-A-G	CBX2	c.*850A>G	-	3-UTRSNV	5/5	-
12-570947-A-G	B4GALNT3	c.169+1236A>G	-	IntronicSNV	-	1/19
5-175843189-G-A	CLTB	c.176C>T	p.P59L	Missense	1/6	-
12-21069049-G-A	SLCO1B3	c.1977G>A	p.S659=	Synonymous	16/16	-
1-66069781-A-G	LEPR	c.1404-940A>G	-	IntronicSNV	-	10/19
6-160543330-C-A	SLC22A1	c.363C>A	p.C121*	Nonsense	1/11	-
13-28761592-G-A	PAN3	c.690+9520G>A	-	IntronicSNV	-	4/18
12-20614659-G-A	PDE3A	c.960+91481G>A	-	IntronicSNV	-	1/15
9-82246351-A-T	TLE4	c.390+3988A>T	-	IntronicSNV	-	6/19
22-38506688-T-G	BAIAP2L2	c.1-156A>C	-	IntergenicSNV	1/14	-
2-233597196-G-A	GIGYF2	c.1-2712G>A	-	IntronicSNV	-	2/28
17-61988614-A-T	CSHL1	c.1-58T>A	-	5-UTRSNV	1/5	-
22-38506688-T-C	BAIAP2L2	c.1-156A>G	-	IntergenicSNV	1/14	-
8-41839406-C-T	KAT6A	c.776G>A	p.C259Y	Missense	4/17	-
3-186445436-C-T	KNG1	c.672+303C>T	-	IntronicSNV	-	5/9
19-49208368-C-T	FUT2	c.*1123C>T	-	3-UTRSNV	2/2	-
19-45418486-G-A	APOC1	c.58+280G>A	-	IntronicSNV	-	2/3
16-69862109-C-T	WWP2	c.341-11920C>T	-	IntronicSNV	-	4/23
17-16852292-G-GT	TNFRSF13B	c.204_204dup	p.L69Tfs*12	Frameshift	3/5	-
1-12042755-G-A	MFN2	c.-5+584G>A	-	intron_variant	-	2/18
19-8627569-C-T	MYO1F	c.4-6889G>A	-	IntronicSNV	-	1/27
6-160521885-C-T	IGF2R	c.6843-1666C>T	-	IntronicSNV	-	45/47
19-8301048-C-T	CERS4	c.1-14913C>T	-	IntronicSNV	-	2/11
6-20404420-T-C	E2F3	c.393+1564T>C	-	IntronicSNV	-	1/6
5-106878792-G-C	EFNA5	c.126-115582C>G	-	IntronicSNV	-	1/4
4-144355290-G-C	GAB1	c.593+421G>C	-	IntronicSNV	-	3/9
9-95892726-T-C	NINJ1	c.75+3699A>G	-	IntronicSNV	-	1/3
19-7979801-G-C	TGFBR3L	c.1-1352G>C	-	IntergenicSNV	1/6	-
17-47486016-A-G	PHB	c.510+388T>C	-	IntronicSNV	-	5/6
12-102846504-A-G	IGF1	c.220+22917T>C	-	IntronicSNV	-	2/3
19-19393890-A-AG	SUGP1	c.1244-2791_1244-2790insC	-	IntronicInsertion	-	8/13
8-133895172-C-A	TG	c.1003C>A	p.P335T	Missense	8/48	-
9-15304782-C-A	TTC39B	c.240+2300G>T	-	IntronicSNV	-	1/19
17-7368513-C-T	ZBTB4	c.1091+517G>A	-	IntronicSNV	-	3/3
6-50791584-CACAA-C	TFAP2B	c.540+28_540+31delCAAA	-	IntronicDeletion	-	2/6
19-19387828-GG-TT	SUGP1	c.1838_1839delCCinsAA	p.S613*	Nonsense	13/14	-
19-45682698-C-A	BLOC1S3	c.144C>A	p.R48=	Synonymous	2/2	-
8-116617186-G-T	TRPS1	c.1010C>A	p.P337Q	Missense	4/7	-
6-33043867-G-T	HLA-DPB1	c.49G>T	p.A17S	Missense	1/6	-
17-29647358-A-AT	NF1	c.4836-5477_4836-5477dup	-	IntronicInsertion	-	36/57
17-29647358-A-ATT	NF1	c.4836-5478_4836-5477dup	-	IntronicInsertion	-	36/57
19-46003399-C-CG	PPM1N	c.1057+75_1057+76insG	-	IntronicInsertion	-	2/4
19-53357172-C-T	ZNF468	c.15+339G>A	-	IntronicSNV	-	2/3
16-75239187-G-A	CTRB2	c.496+44C>T	-	IntronicSNV	-	5/6
19-50016759-C-T	FCGRT	c.73+29C>T	-	IntronicSNV	-	2/6
11-65351364-G-A	EHBP1L1	c.3093+128G>A	-	IntronicSNV	-	9/18
1-150958133-T-C	ANXA9	c.473-679T>C	-	IntronicSNV	-	7/13
17-4851775-C-T	PFN1	c.1-86G>A	-	5-UTRSNV	1/3	-
1-145747065-C-T	PDZK1	c.22C>T	p.R8*	Nonsense	2/9	-
19-3121510-G-GC	GNA11	c.*337_*337dup	-	UnclassifiedInsertion	7/7	-
11-2856658-C-G	KCNQ1	c.1795-12339C>G	-	IntronicSNV	-	15/15
11-2856658-C-T	KCNQ1	c.1795-12339C>T	-	IntronicSNV	-	15/15
19-17252041-G-A	MYO9B	c.841-4166G>A	-	IntronicSNV	-	2/39
2-234545792-G-A	UGT1A10	c.624G>A	p.W208*	Nonsense	1/5	-
12-21707103-A-G	GYS2	c.1422+4031T>C	-	IntronicSNV	-	11/15
3-48601774-A-G	COL7A1	c.*65T>C	-	3-UTRSNV	119/119	-
12-124857274-G-A	NCOR2	c.2219-118C>T	-	IntronicSNV	-	21/48
19-45323170-CCATCCCCAACTCATCCT-C	BCAM	c.1763+199_1763+215del17	-	IntronicDeletion	-	13/14
19-14172728-C-T	PALM3	c.41+24G>A	-	intron_variant	-	1/6
16-959503-A-G	LMF1	c.663+1428T>C	-	IntronicSNV	-	4/10
19-17346441-A-T	NR2F6	c.807T>A	p.P269=	Synonymous	3/4	-
16-18882659-GA-G	SMG1	c.2302+26delT	-	IntronicDeletion	-	16/62
17-1631439-G-C	WDR81	c.3186G>C	p.L1062=	Synonymous	1/10	-
17-44953726-A-G	WNT9B	c.716A>G	p.K239R	Missense	4/4	-
16-51170026-G-T	SALL1	c.*997C>A	-	3-UTRSNV	3/3	-
19-45487178-C-T	CLPTM1	c.587-1298C>T	-	IntronicSNV	-	5/13
1-27262545-C-T	NUDC	c.160-5403C>T	-	IntronicSNV	-	2/8
1-155160334-C-T	MUC1	c.339G>A	p.R113=	Synonymous	5/8	-
18-47106028-C-T	LIPG	c.794-1757C>T	-	IntronicSNV	-	5/9
19-1127608-C-T	SBNO2	c.436G>A	p.D146N	Missense	5/32	-
19-4065415-G-A	ZBTB7A	c.-16+1265C>T	-	intron_variant	-	1/2
19-4065415-G-C	ZBTB7A	c.-16+1265C>G	-	intron_variant	-	1/2
19-4065415-G-T	ZBTB7A	c.-16+1265C>A	-	intron_variant	-	1/2
17-7621877-C-A	DNAH2	c.-255C>A	-	5_prime_UTR_variant	1/86	-
20-62347189-G-T	ZGPAT	c.584+6673G>T	-	IntronicSNV	-	2/6
9-16857403-C-A	BNC2	c.3+13241G>T	-	IntronicSNV	-	1/6
1-21974834-C-G	RAP1GAP	c.-113+1420G>C	-	intron_variant	-	2/24
1-21974834-C-T	RAP1GAP	c.-113+1420G>A	-	intron_variant	-	2/24
16-81533789-C-A	CMIP	c.300+54643C>A	-	IntronicSNV	-	1/20
17-67276383-T-G	ABCA5	c.2393-2400A>C	-	IntronicSNV	-	18/38
7-133743393-A-G	EXOC4	c.2688-5651A>G	-	IntronicSNV	-	17/17
16-1833508-G-A	NUBP2	c.16+471G>A	-	IntronicSNV	-	1/6
22-46238123-T-C	ATXN10	c.1238-748T>C	-	IntronicSNV	-	10/11
1-205690941-T-C	NUCKS1	c.230-1160A>G	-	IntronicSNV	-	4/6
1-2202967-T-A	SKI	c.970-31450T>A	-	IntronicSNV	-	1/6
1-2202967-T-C	SKI	c.970-31450T>C	-	IntronicSNV	-	1/6
1-176522365-C-G	PAPPA2	c.1-3094C>G	-	IntronicSNV	-	1/22
1-176522365-C-T	PAPPA2	c.1-3094C>T	-	IntronicSNV	-	1/22
15-99524022-G-A	PGPEP1L	c.-141-9635C>T	-	intron_variant	-	2/4
7-55982894-G-A	ZNF713	c.87+2478G>A	-	intron_variant	-	4/6
2-26597434-AT-A	SELENOI	c.574-455delT	-	IntronicDeletion	-	5/9
8-74883104-C-A	ELOC	c.-51+1208G>T	-	intron_variant	-	1/3
7-97970105-G-GT	BAIAP2L1	c.214+14248_214+14248dupA	-	IntronicInsertion	-	3/13
10-93564864-CT-C	TNKS2	c.199+6234delT	-	IntronicDeletion	-	1/26
12-51551248-TG-T	TFCP2	c.122+14836delC	-	IntronicDeletion	-	1/14
2-172399050-T-A	CYBRD1	c.402+747T>A	-	IntronicSNV	-	2/3
2-204106164-A-G	CYP20A1	c.72+2307A>G	-	IntronicSNV	-	1/12
6-15661528-C-T	DTNBP1	c.56+1517G>A	-	IntronicSNV	-	1/9
7-73019074-T-C	MLXIPL	c.901+944A>G	-	IntronicSNV	-	7/16
7-100414386-T-C	EPHB4	c.1588+428A>G	-	IntronicSNV	-	8/16
11-5688683-C-T	TRIM5	c.767+236G>A	-	IntronicSNV	-	5/7
11-5698455-G-A	TRIM5	c.744+979C>T	-	IntronicSNV	-	4/7
16-4710898-T-G	MGRN1	c.561+3534T>G	-	IntronicSNV	-	5/16
16-72091565-G-A	HP	c.190+1035G>A	-	IntronicSNV	-	4/6
3-48628506-G-A	COL7A1	c.266+3295C>T	-	IntronicSNV	-	13/118
16-88527325-AGGGGC-A	ZFPM1	c.40+7248_40+7252delGCGGG	-	IntronicDeletion	-	1/9
9-133481912-A-G	FUBP3	c.191-3429A>G	-	IntronicSNV	-	2/18
16-80686952-C-T	CDYL2	c.617-19819G>A	-	IntronicSNV	-	2/6
16-83992562-C-T	OSGIN1	c.68-303C>T	-	IntronicSNV	-	2/5
13-43153869-A-T	TNFSF11	c.220-1393A>T	-	IntronicSNV	-	1/4
9-133481929-C-T	FUBP3	c.191-3412C>T	-	IntronicSNV	-	2/18
16-83988161-A-G	OSGIN1	c.-33+1186A>G	-	intron_variant	-	1/5
16-83988161-A-T	OSGIN1	c.-33+1186A>T	-	intron_variant	-	1/5
6-24639637-C-G	KIAA0319	c.-106+6327G>C	-	intron_variant	-	1/20
11-126226663-C-A	ST3GAL4	c.-61+926C>A	-	intron_variant	-	1/10
11-5704476-C-A	TRIM5	c.-62+1622G>T	-	intron_variant	-	1/7
11-5704476-C-G	TRIM5	c.-62+1622G>C	-	intron_variant	-	1/7
11-5704476-C-T	TRIM5	c.-62+1622G>A	-	intron_variant	-	1/7
7-135162927-C-T	CNOT4	c.-93+31710G>A	-	intron_variant	-	1/11
18-47102187-ATTTCT-A	LIPG	c.793+241_793+245delCTTTT	-	IntronicDeletion	-	5/9
17-7220033-G-A	NEURL4	c.4485-387C>T	-	IntronicSNV	-	28/28
19-50025208-T-A	FCGRT	c.602-2556T>A	-	IntronicSNV	-	4/6
19-54631376-G-T	PRPF31	c.946-72G>T	-	IntronicSNV	-	9/13
19-3756173-G-A	APBA3	c.617-1835C>T	-	IntronicSNV	-	3/10
1-230413770-C-CAA	GALNT2	c.1561-1279_1561-1278insAA	-	IntronicInsertion	-	15/15
2-219419690-A-G	USP37	c.157-1243T>C	-	IntronicSNV	-	4/25
19-41207206-C-G	COQ8B	c.894-850G>C	-	IntronicSNV	-	10/14
1-220973760-A-AC	MARC1	c.753+2404_753+2405insC	-	IntronicInsertion	-	4/6
1-220973760-A-ACAAG	MARC1	c.753+2404_753+2405insCAAG	-	IntronicInsertion	-	4/6
1-220973760-A-ACAAGC	MARC1	c.753+2404_753+2405insCAAGC	-	IntronicInsertion	-	4/6
19-33517923-G-A	RHPN2	c.186-385C>T	-	IntronicSNV	-	2/14
19-33517923-G-C	RHPN2	c.186-385C>G	-	IntronicSNV	-	2/14
19-33517923-G-T	RHPN2	c.186-385C>A	-	IntronicSNV	-	2/14
22-32144879-C-T	PRR14L	c.-52+1100G>A	-	intron_variant	-	1/8
17-7215385-C-T	EIF5A	c.*256C>T	-	3_prime_UTR_variant	6/6	-
9-107571208-G-A	ABCA1	c.4274+539C>T	-	IntronicSNV	-	30/49
11-118957388-A-T	HMBS	c.33+1612A>T	-	IntronicSNV	-	1/13
11-118963291-C-T	HMBS	c.771+58C>T	-	IntronicSNV	-	11/13
9-107620745-G-A	ABCA1	c.720+58C>T	-	IntronicSNV	-	7/49
12-125338336-T-C	SCARB1	c.126+9805A>G	-	IntronicSNV	-	1/12
16-57309553-CAAAAA-C	PLLP	c.135+8760_135+8764delTTTTT	-	IntronicDeletion	-	1/3
12-125322051-G-A	SCARB1	c.127-19798C>T	-	IntronicSNV	-	1/12
11-126218153-G-A	DCPS	c.*2645G>A	-	IntergenicSNV	6/6	-
7-101832645-C-G	CUX1	c.1018-448C>G	-	IntronicSNV	-	11/23
7-101832645-C-T	CUX1	c.1018-448C>T	-	IntronicSNV	-	11/23
9-107589744-C-T	ABCA1	c.2116-294G>A	-	IntronicSNV	-	15/49
16-56787882-T-C	NUP93	c.180-4568T>C	-	IntronicSNV	-	2/21
16-56911069-T-C	SLC12A3	c.1096-920T>C	-	IntronicSNV	-	8/25
16-57285539-C-T	ARL2BP	c.391-539C>T	-	IntronicSNV	-	5/5
12-57460682-T-C	NEMP1	c.546-2160A>G	-	IntronicSNV	-	4/8
19-47596073-C-CAATCAATCAATA	ZC3H4	c.492+1153_492+1154insTATTGATTGATT	-	IntronicInsertion	-	4/14
12-123728979-C-CAAAACAA	C12orf65	c.1-9231_1-9225dup	-	IntronicInsertion	-	1/2
11-68598783-T-C	CPT1A	c.-14+10460A>G	-	intron_variant	-	1/18
11-126229617-C-T	ST3GAL4	c.-61+3880C>T	-	intron_variant	-	1/10
12-616214-G-A	B4GALNT3	c.170-28118G>A	-	IntronicSNV	-	1/19
3-132288497-C-A	ACAD11	c.2001+6119G>T	-	IntronicSNV	-	17/19
3-132288497-C-G	ACAD11	c.2001+6119G>C	-	IntronicSNV	-	17/19
1-109816863-T-TG	CELSR2	c.8772+192_8772+193insG	-	3-UTRInsertion	34/34	-
15-58741384-C-G	LIPC	c.88+17065C>G	-	IntronicSNV	-	1/8
15-58741384-C-T	LIPC	c.88+17065C>T	-	IntronicSNV	-	1/8
2-27711257-G-GAC	IFT172	c.39+1224_39+1225insGT	-	IntronicInsertion	-	1/47
2-27711257-G-GACT	IFT172	c.39+1224_39+1225insAGT	-	IntronicInsertion	-	1/47
2-27711257-G-GGACT	IFT172	c.39+1224_39+1225insAGTC	-	IntronicInsertion	-	1/47
2-158456642-G-A	ACVR1C	c.74-12713C>T	-	IntronicSNV	-	1/8
5-42687629-T-C	GHR	c.137-1363T>C	-	IntronicSNV	-	3/9
9-131494806-G-A	ZER1	c.2243+899C>T	-	IntronicSNV	-	15/15
12-124228300-T-A	ATP6V0A2	c.1039-32T>A	-	IntronicSNV	-	9/19
2-27711256-GG-AGGACT	IFT172	c.39+1225_39+1226delinsAGTCCT	-	IntronicBlockSubstitution	-	1/47
1-230293037-A-G	GALNT2	c.127-20927A>G	-	IntronicSNV	-	1/15
2-20409322-G-A	SDC1	c.67-4137C>T	-	IntronicSNV	-	1/4
19-45529811-G-GA	RELB	c.886+825_886+825dupA	-	IntronicInsertion	-	7/11
19-45791810-CA-C	MARK4	c.1494+905delA	-	IntronicDeletion	-	13/16
19-44167701-A-T	PLAUR	c.310+1767T>A	-	IntronicSNV	-	3/6
19-10872254-T-A	DNM2	c.235+1767T>A	-	IntronicSNV	-	2/20
19-45785848-A-G	MARK4	c.1276+1856A>G	-	IntronicSNV	-	12/16
19-45791679-C-T	MARK4	c.1494+757C>T	-	IntronicSNV	-	13/16
19-47289931-A-C	SLC1A5	c.566+726T>G	-	IntronicSNV	-	1/7
19-49328961-T-C	HSD17B14	c.369+5964A>G	-	IntronicSNV	-	5/8
19-49329285-G-A	HSD17B14	c.369+5640C>T	-	IntronicSNV	-	5/8
10-17733564-C-T	STAM	c.297+6638C>T	-	IntronicSNV	-	5/13
1-220189792-A-G	EPRS1	c.1494+1999T>C	-	IntronicSNV	-	12/31
2-127861945-C-G	BIN1	c.84+2491G>C	-	IntronicSNV	-	1/18
10-18112635-G-A	MRC1	c.463+190G>A	-	IntronicSNV	-	2/29
10-18244583-A-G	SLC39A12	c.261+2117A>G	-	IntronicSNV	-	2/12
19-45851633-AGAG-A	KLC3	c.779+219_779+221delGAG	-	IntronicDeletion	-	5/12
10-18249498-G-A	SLC39A12	c.262-1012G>A	-	IntronicSNV	-	2/12
10-18249498-G-C	SLC39A12	c.262-1012G>C	-	IntronicSNV	-	2/12
19-45900726-C-T	PPP1R13L	c.199-410G>A	-	IntronicSNV	-	3/12
1-161722608-C-T	DUSP12	c.675-257C>T	-	IntronicSNV	-	4/5
19-49109710-A-ACTTTC	FAM83E	c.759-2547_759-2543dup	-	IntronicInsertion	-	5/6
19-45589665-G-A	GEMIN7	c.1-3708G>A	-	IntronicSNV	-	2/2
19-49109710-A-C	FAM83E	c.759-2542T>G	-	IntronicSNV	-	5/6
9-86504508-A-G	KIF27	c.1810-340T>C	-	IntronicSNV	-	6/17
19-45592238-C-A	GEMIN7	c.1-1135C>A	-	IntronicSNV	-	2/2
19-45592238-C-T	GEMIN7	c.1-1135C>T	-	IntronicSNV	-	2/2
19-45522320-T-C	RELB	c.505-2991T>C	-	IntronicSNV	-	4/11
19-10887227-C-A	DNM2	c.590-567C>A	-	IntronicSNV	-	4/20
19-10887227-C-T	DNM2	c.590-567C>T	-	IntronicSNV	-	4/20
19-45638832-C-G	PPP1R37	c.203-2940C>G	-	IntronicSNV	-	1/12
8-22879734-T-C	TNFRSF10B	c.*450A>G	-	3-UTRSNV	9/9	-
9-82316853-G-A	TLE4	c.610-2845G>A	-	IntronicSNV	-	8/19
19-45586472-A-C	GEMIN7	c.-9+3185A>C	-	intron_variant	-	2/2
19-45586472-A-G	GEMIN7	c.-9+3185A>G	-	intron_variant	-	2/2
19-45586472-A-T	GEMIN7	c.-9+3185A>T	-	intron_variant	-	2/2
22-45826033-A-G	RIBC2	c.901-747A>G	-	intron_variant	-	6/7
10-103599814-CG-C	KCNIP2	c.73+3438delC	-	IntronicDeletion	-	1/9
14-73439359-C-T	ZFYVE1	c.2101+1429G>A	-	IntronicSNV	-	11/11
19-33891013-A-T	PEPD	c.967+1614T>A	-	IntronicSNV	-	12/14
21-33095959-G-A	SCAF4	c.30+8017C>T	-	IntronicSNV	-	1/19
1-155681157-G-A	DAP3	c.45+1542G>A	-	IntronicSNV	-	2/12
7-101851517-AGT-A	CUX1	c.3130+3086_3130+3087delGT	-	IntronicDeletion	-	20/23
6-41671677-A-G	TFEB	c.1-12726T>C	-	IntronicSNV	-	1/8
10-18263213-C-G	SLC39A12	c.752-3618C>G	-	IntronicSNV	-	4/12
10-18263213-C-T	SLC39A12	c.752-3618C>T	-	IntronicSNV	-	4/12
11-60068144-T-G	MS4A4A	c.331-330T>G	-	IntronicSNV	-	3/6
19-1084026-G-C	ARHGAP45	c.2956-211G>C	-	IntronicSNV	-	21/22
19-4953351-T-G	UHRF1	c.1819-1011T>G	-	IntronicSNV	-	13/17
19-5846277-T-C	FUT3	c.-13+160A>G	-	intron_variant	-	2/2
10-100174388-CTGTT-C	PYROXD2	c.127+375_127+378delAACA	-	IntronicDeletion	-	1/15
17-76354126-C-G	SOCS3	c.*373G>C	-	3-UTRSNV	2/2	-
17-76354126-C-T	SOCS3	c.*373G>A	-	3-UTRSNV	2/2	-
14-64595763-C-A	SYNE2	c.14019+492C>A	-	IntronicSNV	-	74/115
14-64595763-C-T	SYNE2	c.14019+492C>T	-	IntronicSNV	-	74/115
19-46889726-A-AG	PPP5C	c.905-623_905-623dup	-	IntronicInsertion	-	7/12
3-121957671-G-T	CASR	c.1-15366G>T	-	IntronicSNV	-	1/6
3-121947324-T-C	CASR	c.1-25713T>C	-	IntronicSNV	-	1/6
11-126596746-T-C	KIRREL3	c.56-163939A>G	-	IntronicSNV	-	1/16
16-83990089-T-C	OSGIN1	c.1-1188T>C	-	IntronicSNV	-	1/5
10-100162639-G-A	PYROXD2	c.316-2625C>T	-	IntronicSNV	-	4/15
3-113208224-G-A	SPICE1	c.493-314C>T	-	IntronicSNV	-	6/17
3-113208224-G-T	SPICE1	c.493-314C>A	-	IntronicSNV	-	6/17
20-42658181-G-A	TOX2	c.412-21765G>A	-	IntronicSNV	-	3/8
11-15261991-A-G	INSC	c.1394-2A>G	-	IntronicSNV	-	11/12
12-123801250-C-CT	SBNO1	c.2935+517_2935+517dupA	-	IntronicInsertion	-	21/31
1-11089225-AT-A	MASP2	c.1297+1007delA	-	IntronicDeletion	-	10/10
6-34727888-CT-C	SNRPC	c.51+2176delT	-	IntronicDeletion	-	2/5
7-92247336-A-G	CDK6	c.834+50T>C	-	IntronicSNV	-	7/7
10-98456557-C-T	PIK3AP1	c.430+12767G>A	-	IntronicSNV	-	2/16
11-93862685-A-G	PANX1	c.181+26A>G	-	IntronicSNV	-	1/4
8-145641108-C-T	SLC39A4	c.474+86G>A	-	IntronicSNV	-	2/11
22-50698452-T-G	MAPK12	c.255+1144A>C	-	IntronicSNV	-	2/11
10-101505386-T-C	CUTC	c.193+5860T>C	-	IntronicSNV	-	5/8
11-78659145-A-T	TENM4	c.494-44577T>A	-	IntronicSNV	-	6/33
5-112553563-C-A	MCC	c.628-66444G>T	-	IntronicSNV	-	3/18
11-5703232-T-C	TRIM5	c.1-1825A>G	-	IntronicSNV	-	1/7
3-133492329-T-TTC	TF	c.1688-1947_1688-1946insCT	-	IntronicInsertion	-	14/16
1-161917829-G-A	ATF6	c.1805-10407G>A	-	IntronicSNV	-	15/15
1-161917829-G-T	ATF6	c.1805-10407G>T	-	IntronicSNV	-	15/15
19-7972615-A-G	MAP2K7	c.125-2025A>G	-	IntronicSNV	-	1/10
6-35194632-G-A	SCUBE3	c.86-725G>A	-	IntronicSNV	-	1/21
6-35194632-G-C	SCUBE3	c.86-725G>C	-	IntronicSNV	-	1/21
17-36075605-C-T	HNF1B	c.1046-4934G>A	-	IntronicSNV	-	4/8
2-169858061-G-A	ABCB11	c.390-4829C>T	-	IntronicSNV	-	5/27
5-175838749-T-A	CLTB	c.188-1445A>T	-	IntronicSNV	-	1/5
20-33433629-A-G	GGT7	c.1826-335T>C	-	IntronicSNV	-	14/14
11-78003075-T-A	GAB2	c.76-11128A>T	-	IntronicSNV	-	1/9
10-101466744-C-T	ENTPD7	c.*2304C>T	-	3-UTRSNV	13/13	-
12-124859244-G-T	NCOR2	c.2168-235C>A	-	IntronicSNV	-	20/48
8-145958154-A-C	ZNF251	c.278-9387T>G	-	IntronicSNV	-	4/4
8-145958154-A-G	ZNF251	c.278-9387T>C	-	IntronicSNV	-	4/4
8-145958154-A-T	ZNF251	c.278-9387T>A	-	IntronicSNV	-	4/4
17-73538318-C-T	LLGL2	c.1-1190C>T	-	IntronicSNV	-	1/25
1-150425376-C-A	RPRD2	c.871-4388C>A	-	IntronicSNV	-	7/10
1-150425376-C-G	RPRD2	c.871-4388C>G	-	IntronicSNV	-	7/10
8-146175356-G-T	ZNF16	c.-10+827C>A	-	intron_variant	-	1/2
17-27164458-A-T	FAM222B	c.-41+5242T>A	-	intron_variant	-	1/2
17-7491546-T-C	SOX15	c.*150A>G	-	3-UTRSNV	2/2	-
17-7352423-A-AT	CHRNB1	c.820+333_820+333dupT	-	IntronicInsertion	-	7/10
8-21767809-C-A	DOK2	c.618+375G>T	-	IntronicSNV	-	4/4
17-1359043-C-T	CRK	c.241+128G>A	-	IntronicSNV	-	1/2
12-20586395-C-T	PDE3A	c.960+63217C>T	-	IntronicSNV	-	1/15
17-1652444-G-A	SERPINF2	c.858+410G>A	-	IntronicSNV	-	8/9
17-67136325-C-G	ABCA6	c.96+424G>C	-	IntronicSNV	-	2/38
19-49943778-G-A	SLC17A7	c.62+797C>T	-	IntronicSNV	-	1/11
19-50001877-T-A	RPS11	c.353+574T>A	-	IntronicSNV	-	4/4
1-21927848-C-T	RAP1GAP	c.1652+329G>A	-	IntronicSNV	-	20/24
17-7489757-TAA-T	MPDU1	c.303-240_303-239delAA	-	IntronicDeletion	-	3/6
17-47836000-AAAAT-A	FAM117A	c.196+5250_196+5253delATTT	-	IntronicDeletion	-	1/7
18-9712723-GTGCGTGCACTTAAAAAC-G	RAB31	c.39+4303_39+4319del17	-	IntronicDeletion	-	1/6
1-21888159-CTTT-C	ALPL	c.297+472_297+474delTTT	-	IntronicDeletion	-	4/11
1-21944576-GCCT-G	RAP1GAP	c.67-114_67-112delAGG	-	IntronicDeletion	-	5/24
17-1654572-G-A	SERPINF2	c.859-1308G>A	-	IntronicSNV	-	8/9
17-67100052-C-CTTTTTTTTTTCT	ABCA6	c.2741-944_2741-943insAGAAAAAAAAAA	-	IntronicInsertion	-	20/38
15-79051705-C-T	ADAMTS7	c.*58G>A	-	3-UTRSNV	24/24	-
1-220085453-G-C	SLC30A10	c.*3338C>G	-	IntergenicSNV	4/4	-
1-21935053-C-T	RAP1GAP	c.1159-210G>A	-	IntronicSNV	-	16/24
11-67874072-T-C	CHKA	c.351-9475A>G	-	IntronicSNV	-	1/11
11-67874072-T-G	CHKA	c.351-9475A>C	-	IntronicSNV	-	1/11
19-50026735-G-A	FCGRT	c.602-1029G>A	-	IntronicSNV	-	4/6
19-50026735-G-T	FCGRT	c.602-1029G>T	-	IntronicSNV	-	4/6
1-21899607-C-T	ALPL	c.863-551C>T	-	IntronicSNV	-	8/11
19-50068898-C-A	NOSIP	c.1-4950G>T	-	IntronicSNV	-	1/8
19-50068898-C-T	NOSIP	c.1-4950G>A	-	IntronicSNV	-	1/8
19-50035161-C-T	RCN3	c.243-2289C>T	-	IntronicSNV	-	2/6
1-22417418-G-A	CDC42	c.487-503G>A	-	IntronicSNV	-	5/5
1-21766776-G-C	NBPF3	c.-205G>C	-	5_prime_UTR_variant	1/15	-
1-21857418-C-G	ALPL	c.-105+21408C>G	-	intron_variant	-	1/11
1-21857418-C-T	ALPL	c.-105+21408C>T	-	intron_variant	-	1/11
1-22784248-G-A	ZBTB40	c.-70+5751G>A	-	intron_variant	-	1/17
1-21951631-C-G	RAP1GAP	c.-19+1166G>C	-	intron_variant	-	3/24
1-21951631-C-T	RAP1GAP	c.-19+1166G>A	-	intron_variant	-	3/24
22-32144879-C-G	PRR14L	c.-52+1100G>C	-	intron_variant	-	1/8
3-122285218-CT-C	DTX3L	c.399+308delT	-	IntronicDeletion	-	2/4
1-55507314-G-A	PCSK9	c.207+1597G>A	-	IntronicSNV	-	1/11
1-55519068-A-T	PCSK9	c.799+604A>T	-	IntronicSNV	-	5/11
1-55674000-C-T	USP24	c.324+6463G>A	-	IntronicSNV	-	1/67
2-44088167-A-G	ABCG8	c.964+8160A>G	-	IntronicSNV	-	6/12
6-34997606-T-A	ANKS1A	c.910+46615T>A	-	IntronicSNV	-	11/23
6-160545046-C-T	SLC22A1	c.411+1668C>T	-	IntronicSNV	-	1/10
11-5700084-C-A	TRIM5	c.513+220G>T	-	IntronicSNV	-	3/7
16-81533922-C-G	CMIP	c.300+54776C>G	-	IntronicSNV	-	1/20
2-27739378-T-TC	GCKR	c.1423-2276_1423-2276dup	-	IntronicInsertion	-	16/18
17-73755392-G-A	GALK1	c.794-712C>T	-	IntronicSNV	-	5/7
17-73755392-G-C	GALK1	c.794-712C>G	-	IntronicSNV	-	5/7
2-20492073-T-C	PUM2	c.1153-1522A>G	-	IntronicSNV	-	9/20
4-25390781-A-AT	ANAPC4	c.515+295_515+295dupT	-	IntronicInsertion	-	7/28
10-18260610-G-C	SLC39A12	c.751+5991G>C	-	IntronicSNV	-	4/12
17-81004172-A-AT	B3GNTL1	c.277+2174_277+2174dupA	-	IntronicInsertion	-	3/12
19-47205943-A-AT	PRKD2	c.889+1482_889+1482dupA	-	IntronicInsertion	-	5/17
10-18506741-G-C	CACNB2	c.213+66837G>C	-	IntronicSNV	-	2/13
14-50849397-G-A	CDKL1	c.171+13022C>T	-	IntronicSNV	-	2/9
17-78248702-G-T	RNF213	c.261+1499G>T	-	IntronicSNV	-	3/67
19-47191696-A-T	PRKD2	c.1971+1098T>A	-	IntronicSNV	-	14/17
19-54755636-T-C	LILRB5	c.1629+281A>G	-	IntronicSNV	-	12/12
1-94684137-T-A	ARHGAP29	c.340+1677A>T	-	IntronicSNV	-	3/22
4-25390781-A-G	ANAPC4	c.515+277A>G	-	IntronicSNV	-	7/28
11-122533680-CTTT-C	UBASH3B	c.161+6782_161+6784delTTT	-	IntronicDeletion	-	1/13
11-22255486-G-A	ANO5	c.649-2223G>A	-	IntronicSNV	-	7/21
10-18262291-C-T	SLC39A12	c.752-4540C>T	-	IntronicSNV	-	4/12
10-100602450-T-A	HPSE2	c.611-98637A>T	-	IntronicSNV	-	3/11
10-100602450-T-C	HPSE2	c.611-98637A>G	-	IntronicSNV	-	3/11
16-11017176-G-A	CIITA	c.*16G>A	-	3-UTRSNV	-	19/19
16-11017176-G-C	CIITA	c.*16G>C	-	3-UTRSNV	-	19/19
5-149387617-T-TTC	HMGXB3	c.312+1408_312+1409dup	-	IntronicInsertion	-	3/19
5-149387617-T-TTCTCAC	HMGXB3	c.312+1409_312+1410insTCACTC	-	IntronicInsertion	-	3/19
5-149387617-T-TTCTC	HMGXB3	c.312+1409_312+1410insTCTC	-	IntronicInsertion	-	3/19
5-149387617-T-TTCTCTC	HMGXB3	c.312+1409_312+1410insTCTCTC	-	IntronicInsertion	-	3/19
10-18247849-G-A	SLC39A12	c.262-2661G>A	-	IntronicSNV	-	2/12
10-18247849-G-C	SLC39A12	c.262-2661G>C	-	IntronicSNV	-	2/12
10-18247849-G-T	SLC39A12	c.262-2661G>T	-	IntronicSNV	-	2/12
17-73538167-G-A	LLGL2	c.1-1341G>A	-	IntronicSNV	-	1/25
10-18275951-C-T	SLC39A12	c.1097-457C>T	-	IntronicSNV	-	6/12
16-88589963-A-C	ZFPM1	c.403-3259A>C	-	IntronicSNV	-	4/9
16-88589963-A-T	ZFPM1	c.403-3259A>T	-	IntronicSNV	-	4/9
6-99836809-A-C	COQ3	c.107-5109T>G	-	IntronicSNV	-	1/6
8-145732398-G-A	GPT	c.*15G>A	-	3-UTRSNV	11/11	-
8-145732398-G-T	GPT	c.*15G>T	-	3-UTRSNV	11/11	-
15-49716478-C-T	FGF7	c.1-17C>T	-	5-UTRSNV	2/4	-
8-103661730-T-C	KLF10	c.*630A>G	-	3-UTRSNV	4/4	-
10-17697200-T-C	STAM	c.41-5263T>C	-	IntronicSNV	-	1/13
19-3550524-G-T	MFSD12	c.509+458C>A	-	IntronicSNV	-	2/9
19-10434391-C-T	RAVER1	c.757-149G>A	-	intron_variant	-	3/12
12-12872484-C-CA	CDKN1B	c.*609_*609dup	-	IntronicInsertion	-	2/2
6-137224474-C-CT	PEX7	c.903+5114_903+5114dupT	-	IntronicInsertion	-	9/9
16-81832813-G-A	PLCG2	c.193+13026G>A	-	IntronicSNV	-	2/32
18-55112809-G-C	ONECUT2	c.1228+8633G>C	-	IntronicSNV	-	1/1
19-45461007-A-G	CLPTM1	c.72+2283A>G	-	IntronicSNV	-	1/13
20-43008981-C-T	HNF4A	c.49+24488C>T	-	IntronicSNV	-	1/9
20-43038249-C-T	HNF4A	c.319+2134C>T	-	IntronicSNV	-	3/9
2-234307002-A-G	DGKD	c.348+7873A>G	-	IntronicSNV	-	3/29
11-995635-C-T	AP2A2	c.1956+1390C>T	-	IntronicSNV	-	14/21
12-123425261-C-T	ABCB9	c.1569+93G>A	-	IntronicSNV	-	8/11
15-67546588-T-C	AAGAB	c.73+309A>G	-	IntronicSNV	-	1/9
16-89719955-C-T	CHMP1A	c.27+357G>A	-	IntronicSNV	-	2/6
19-44677475-TCCTC-T	ZNF226	c.235+375_235+378delCCTC	-	IntronicDeletion	-	5/5
12-125338777-G-A	SCARB1	c.126+9364C>T	-	IntronicSNV	-	1/12
15-63810625-G-C	USP3	c.91+13596G>C	-	IntronicSNV	-	1/14
16-67506247-T-C	ATP6V0D1	c.130+8613A>G	-	IntronicSNV	-	1/7
19-11147526-T-C	SMARCA4	c.4170+1718T>C	-	IntronicSNV	-	29/34
19-11228145-C-T	LDLR	c.1845+471C>T	-	IntronicSNV	-	12/17
19-45483674-G-A	CLPTM1	c.586+2957G>A	-	IntronicSNV	-	5/13
11-126280201-G-A	ST3GAL4	c.280+2957G>A	-	IntronicSNV	-	9/10
20-43005932-A-G	HNF4A	c.49+21439A>G	-	IntronicSNV	-	1/9
22-35724659-C-A	TOM1	c.765+1279C>A	-	IntronicSNV	-	7/14
17-76406692-T-A	PGS1	c.1403-4268T>A	-	IntronicSNV	-	7/9
17-76406692-T-C	PGS1	c.1403-4268T>C	-	IntronicSNV	-	7/9
17-76406692-T-G	PGS1	c.1403-4268T>G	-	IntronicSNV	-	7/9
11-117261026-G-A	CEP164	c.1935-467G>A	-	IntronicSNV	-	15/32
12-105606068-G-C	APPL2	c.286-973C>G	-	IntronicSNV	-	4/20
12-105606068-G-T	APPL2	c.286-973C>A	-	IntronicSNV	-	4/20
19-50044741-C-G	RCN3	c.680-1069C>G	-	IntronicSNV	-	5/6
19-50044741-C-T	RCN3	c.680-1069C>T	-	IntronicSNV	-	5/6
12-100887977-G-GGTATCTAT	NR1H4	c.79+797_79+798insGTATCTAT	-	IntronicInsertion	-	1/10
12-100887977-G-GTCTA	NR1H4	c.79+798_79+799insCTAT	-	IntronicInsertion	-	1/10
12-100887977-G-GTTATCTAT	NR1H4	c.79+798_79+799insTATCTATT	-	IntronicInsertion	-	1/10
10-101823971-T-C	CPN1	c.760-489A>G	-	IntronicSNV	-	4/8
19-11221951-A-G	LDLR	c.1061-239A>G	-	IntronicSNV	-	7/17
19-50026266-C-T	FCGRT	c.602-1498C>T	-	IntronicSNV	-	4/6
11-65118587-C-T	DPF2	c.1100-567C>T	-	IntronicSNV	-	10/10
19-47379126-G-A	ARHGAP35	c.-189+14660G>A	-	intron_variant	-	1/6
2-176982540-GC-G	HOXD10	c.745+236delC	-	IntronicDeletion	-	1/1
2-20404762-C-T	SDC1	c.148+342G>A	-	IntronicSNV	-	2/4
2-54787340-T-C	SPTBN1	c.148+33637T>C	-	IntronicSNV	-	2/35
7-151567551-C-G	PRKAG2	c.114+6041G>C	-	IntronicSNV	-	1/15
11-36475722-T-C	PRR5L	c.585+7732T>C	-	IntronicSNV	-	8/8
14-93570702-C-T	ITPK1	c.95+10712G>A	-	IntronicSNV	-	2/10
7-127577115-GAAT-G	SND1	c.1669+7740_1669+7742delAAT	-	IntronicDeletion	-	15/23
2-121992208-C-T	TFCP2L1	c.1095-438G>A	-	IntronicSNV	-	11/14
2-170089092-A-G	LRP2	c.5099-740T>C	-	IntronicSNV	-	30/78
15-57729289-G-C	CGNL1	c.1-909G>C	-	IntronicSNV	-	1/18
11-72950559-C-A	P2RY2	c.*4221C>A	-	3-UTRSNV	3/3	-
11-72950559-C-G	P2RY2	c.*4221C>G	-	3-UTRSNV	3/3	-
1-115285135-G-A	CSDE1	c.1-2624C>T	-	IntronicSNV	-	2/19
15-57836125-T-A	CGNL1	c.3375+148T>A	-	IntronicSNV	-	15/18
11-64466542-T-G	NRXN2	c.731-1278A>C	-	IntronicSNV	-	2/22
6-34799900-C-CTTTCTTT	UHRF1BP1	c.339-2091_339-2090insCTTTTTT	-	IntronicInsertion	-	4/20
15-57819610-C-G	CGNL1	c.3040-1242C>G	-	IntronicSNV	-	12/18
3-176868116-G-T	TBL1XR1	c.-122+46793C>A	-	intron_variant	-	1/15
11-32986655-C-A	QSER1	c.4970-1191C>A	-	intron_variant	-	8/12
8-66567648-T-C	MTFR1	c.-81+10629T>C	-	intron_variant	-	1/7
16-81821140-CT-C	PLCG2	c.193+1368delT	-	IntronicDeletion	-	2/32
11-9764431-C-CT	SWAP70	c.1355+2552_1355+2552dupT	-	IntronicInsertion	-	9/11
16-4761670-G-A	ANKS3	c.709+2382C>T	-	IntronicSNV	-	7/17
16-89896005-C-G	SPIRE2	c.244+803C>G	-	IntronicSNV	-	1/14
20-23731033-C-T	CST1	c.228+243G>A	-	IntronicSNV	-	1/2
20-43960954-T-C	SDC4	c.246+709A>G	-	IntronicSNV	-	3/4
17-65892064-T-A	BPTF	c.2543+1783T>A	-	IntronicSNV	-	7/27
20-23614304-C-T	CST3	c.*249G>A	-	3-UTRSNV	3/3	-
2-234673516-C-A	UGT1A1	c.865-2164C>A	-	IntronicSNV	-	1/4
12-20967830-C-CA	SLCO1B3	c.1-839_1-839dup	-	IntronicInsertion	-	1/15
20-60931224-C-A	LAMA5	c.451-2917G>T	-	IntronicSNV	-	2/79
20-60931224-C-T	LAMA5	c.451-2917G>A	-	IntronicSNV	-	2/79
1-93547830-C-CT	MTF2	c.5+2758_5+2758dupT	-	IntronicInsertion	-	1/14
3-29629049-G-A	RBMS3	c.399+353G>A	-	IntronicSNV	-	4/14
3-29359952-T-C	RBMS3	c.75+36705T>C	-	IntronicSNV	-	1/14
4-89676867-CTA-C	FAM13A	c.1726+3036_1726+3037delTA	-	IntronicDeletion	-	14/23
5-106720368-AGT-A	EFNA5	c.565+2566_565+2567delAC	-	IntronicDeletion	-	4/4
15-57818860-A-AT	CGNL1	c.3039+1915_3039+1915dup	-	IntronicInsertion	-	12/18
1-232764044-T-A	SIPA1L2	c.-319+1571A>T	-	intron_variant	-	1/22
10-52579052-G-A	A1CF	c.867+1260C>T	-	IntronicSNV	-	8/12
12-15515945-C-T	PTPRO	c.75+40210C>T	-	IntronicSNV	-	1/26
7-35694283-CT-C	HERPUD2	c.494+12760delA	-	IntronicDeletion	-	5/8
17-73507993-GC-G	CASKIN2	c.94+1798delG	-	IntronicDeletion	-	2/19
7-630494-A-G	PRKAR1B	c.708+5289T>C	-	IntronicSNV	-	7/10
6-159223689-G-A	EZR	c.13-13286C>T	-	IntronicSNV	-	2/13
15-56931193-A-C	ZNF280D	c.2260-3745T>G	-	IntronicSNV	-	20/21
17-67481232-G-A	MAP2K6	c.17-20689G>A	-	IntronicSNV	-	1/11
19-3726441-A-G	TJP3	c.1-1990A>G	-	IntronicSNV	-	1/20
7-135103449-C-T	CNOT4	c.373-3438G>A	-	IntronicSNV	-	3/11
20-3682657-G-A	SIGLEC1	c.1229-369C>T	-	IntronicSNV	-	6/21
20-3692345-T-C	SIGLEC1	c.-110+772A>G	-	intron_variant	-	1/21
22-18456874-T-C	MICAL3	c.-75+50173A>G	-	intron_variant	-	1/31
1-25769209-G-GA	MACO1	c.80+11543_80+11543dupA	-	IntronicInsertion	-	1/10
6-161009288-G-GT	LPA	c.3947+1296_3947+1296dupA	-	IntronicInsertion	-	24/38
17-1519097-G-A	SLC43A2	c.368+759C>T	-	IntronicSNV	-	3/13
2-24489969-G-A	ITSN2	c.2355+3571C>T	-	IntronicSNV	-	20/39
2-44050979-T-A	ABCG5	c.1324+73A>T	-	IntronicSNV	-	9/12
9-15298666-T-C	TTC39B	c.240+8416A>G	-	IntronicSNV	-	1/19
5-156472825-G-A	HAVCR1	c.782-3132C>T	-	IntronicSNV	-	5/8
17-47907641-T-C	KAT7	c.*2777T>C	-	IntergenicSNV	15/15	-
2-43682659-A-T	THADA	c.3837-25218T>A	-	IntronicSNV	-	26/37
6-161073048-C-A	LPA	c.50-1519G>T	-	IntronicSNV	-	1/38
6-161073048-C-G	LPA	c.50-1519G>C	-	IntronicSNV	-	1/38
19-38669282-A-AT	SIPA1L3	c.4209-3870_4209-3870dup	-	IntronicInsertion	-	15/21
4-154191226-G-A	TRIM2	c.31-261G>A	-	IntronicSNV	-	1/11
4-154191226-G-C	TRIM2	c.31-261G>C	-	IntronicSNV	-	1/11
2-46171293-G-A	PRKCE	c.413-32275G>A	-	IntronicSNV	-	2/14
10-52373245-G-A	SGMS1	c.-684+10222C>T	-	intron_variant	-	1/10
10-52373245-G-C	SGMS1	c.-684+10222C>G	-	intron_variant	-	1/10
19-11228145-C-CT	LDLR	c.1845+482_1845+482dupT	-	IntronicInsertion	-	12/17
19-10667793-C-CT	KRI1	c.1635+434_1635+434dupA	-	IntronicInsertion	-	16/18
1-109809343-CT-C	CELSR2	c.6013+532delT	-	IntronicDeletion	-	15/33
6-51519441-C-CA	PKHD1	c.11174+4308_11174+4308dupT	-	IntronicInsertion	-	61/66
2-121987735-T-C	TFCP2L1	c.1341+1667A>G	-	IntronicSNV	-	13/14
2-220300965-G-A	SPEG	c.388+878G>A	-	IntronicSNV	-	1/40
3-171033181-C-G	TNIK	c.123+54228G>C	-	IntronicSNV	-	2/32
4-109751651-C-T	COL25A1	c.1710+1885G>A	-	IntronicSNV	-	32/37
6-43319921-T-C	ZNF318	c.2770+194A>G	-	IntronicSNV	-	5/9
7-127595077-G-C	SND1	c.1669+25695G>C	-	IntronicSNV	-	15/23
1-182997286-CCT-C	LAMC1	c.418+4019_418+4020delTC	-	IntronicDeletion	-	1/27
2-179662108-CAT-C	TTN	c.914+2105_914+2106delAT	-	IntronicDeletion	-	6/362
2-46528695-A-AGG	EPAS1	c.26+3619_26+3620insGG	-	IntronicInsertion	-	1/15
6-34650741-A-AC	C6orf106	c.158+13481_158+13482insG	-	IntronicInsertion	-	1/4
2-120739239-T-G	PTPN4	c.*4593T>G	-	3-UTRSNV	27/27	-
2-179662107-C-CAT	TTN	c.914+2105_914+2106dup	-	IntronicInsertion	-	6/362
2-176816413-G-A	LNPK	c.494-3993C>T	-	IntronicSNV	-	8/12
2-234340987-T-A	DGKD	c.349-2039T>A	-	IntronicSNV	-	3/29
2-234340987-T-C	DGKD	c.349-2039T>C	-	IntronicSNV	-	3/29
2-234340987-T-G	DGKD	c.349-2039T>G	-	IntronicSNV	-	3/29
2-230826792-G-T	FBXO36	c.97-14165G>T	-	IntronicSNV	-	1/3
6-35228828-A-T	ZNF76	c.-97+1210A>T	-	intron_variant	-	1/13
4-106125385-A-T	TET2	c.-47+13723A>T	-	intron_variant	-	2/10
3-125897538-G-T	ALDH1L1	c.-24+1781C>A	-	intron_variant	-	1/22
8-22500849-C-CT	BIN3	c.57+1418_57+1418dupA	-	IntronicInsertion	-	2/8
1-11150053-CT-C	EXOSC10	c.758+557delA	-	IntronicDeletion	-	6/24
8-30404463-G-A	RBPMS	c.528+2322G>A	-	IntronicSNV	-	6/8
1-10753469-C-T	CASZ1	c.16+462G>A	-	IntronicSNV	-	4/20
11-114032484-C-T	ZBTB16	c.1366+5328C>T	-	IntronicSNV	-	3/6
19-18575813-G-A	ELL	c.469+409C>T	-	IntronicSNV	-	4/11
15-99277893-A-G	IGF1R	c.640+26557A>G	-	IntronicSNV	-	2/20
17-59287269-C-T	BCAS3	c.2425+125344C>T	-	IntronicSNV	-	22/23
18-42309786-T-C	SETBP1	c.486+27989T>C	-	IntronicSNV	-	2/5
19-18575193-A-G	ELL	c.469+1029T>C	-	IntronicSNV	-	4/11
19-33346430-C-T	SLC7A9	c.977+2916G>A	-	IntronicSNV	-	9/12
19-40743523-C-T	AKT2	c.831+353G>A	-	IntronicSNV	-	9/13
21-38074944-G-C	SIM2	c.175+2723G>C	-	IntronicSNV	-	1/10
22-41939668-C-A	POLR3H	c.111+327G>T	-	IntronicSNV	-	1/5
22-50834261-G-C	PPP6R2	c.227+1697G>C	-	IntronicSNV	-	3/23
1-10752356-T-C	CASZ1	c.16+1575A>G	-	IntronicSNV	-	4/20
1-110465541-C-T	CSF1	c.544+925C>T	-	IntronicSNV	-	5/8
10-101493821-ATTT-A	CUTC	c.61+1675_61+1677delTTT	-	IntronicDeletion	-	1/8
14-100771531-TCCGACGCCA-T	SLC25A29	c.34+996_34+1004delTGGCGTCGG	-	IntronicDeletion	-	1/3
9-136923972-G-A	BRD3	c.1-5373C>T	-	IntronicSNV	-	1/11
12-4546565-G-A	FGF6	c.451-3008C>T	-	IntronicSNV	-	2/2
1-10735863-C-T	CASZ1	c.17-10235G>A	-	IntronicSNV	-	4/20
11-128351142-G-A	ETS1	c.863-796C>T	-	IntronicSNV	-	7/9
11-128351142-G-T	ETS1	c.863-796C>A	-	IntronicSNV	-	7/9
9-140207278-C-G	EXD3	c.2185-3126G>C	-	IntronicSNV	-	19/21
9-140207278-C-T	EXD3	c.2185-3126G>A	-	IntronicSNV	-	19/21
9-140389613-C-G	PNPLA7	c.2014-15G>C	-	IntronicSNV	-	18/34
9-140389613-C-T	PNPLA7	c.2014-15G>A	-	IntronicSNV	-	18/34
15-83461873-G-A	FSD2	c.1-5731C>T	-	IntronicSNV	-	1/12
19-33506250-G-A	RHPN2	c.391-2620C>T	-	IntronicSNV	-	4/14
19-33506250-G-C	RHPN2	c.391-2620C>G	-	IntronicSNV	-	4/14
11-65314097-G-C	LTBP3	c.2231-62C>G	-	IntronicSNV	-	15/27
7-155605071-C-T	SHH	c.1-255G>A	-	IntergenicSNV	1/3	-
8-22500849-C-CAT	BIN3	c.57+1418_57+1419insAT	-	IntronicInsertion	-	2/8
10-131259033-G-GCT	MGMT	c.1-6446_1-6445dup	-	UnclassifiedInsertion	-	1/4
16-2569810-G-C	ATP6V0C	c.*64G>C	-	3-UTRSNV	3/3	-
15-57793765-C-A	CGNL1	c.2404-15213C>A	-	IntronicSNV	-	8/18
15-57793765-C-G	CGNL1	c.2404-15213C>G	-	IntronicSNV	-	8/18
15-57793765-C-T	CGNL1	c.2404-15213C>T	-	IntronicSNV	-	8/18
16-16097861-G-A	ABCC1	c.49-3812G>A	-	IntronicSNV	-	1/30
12-50267335-C-T	FAIM2	c.802-2899G>A	-	IntronicSNV	-	11/11
16-11443183-A-G	RMI2	c.296-1316A>G	-	IntronicSNV	-	1/1
22-50885495-A-G	SBF1	c.*76T>C	-	3-UTRSNV	41/41	-
19-14170423-A-G	PALM3	c.42-448T>C	-	intron_variant	-	1/6
6-24210299-T-C	DCDC2	c.923-4969A>G	-	IntronicSNV	-	7/9
3-183364388-C-CCCTG	KLHL24	c.1-3756_1-3753dup	-	IntronicInsertion	-	1/7
12-111500681-C-G	CUX2	c.63+28637C>G	-	IntronicSNV	-	1/21
12-111515020-G-C	CUX2	c.63+42976G>C	-	IntronicSNV	-	1/21
12-111525915-C-T	CUX2	c.63+53871C>T	-	IntronicSNV	-	1/21
12-121305463-G-A	SPPL3	c.23+36185C>T	-	IntronicSNV	-	1/10
12-121417306-C-T	HNF1A	c.326+409C>T	-	IntronicSNV	-	1/9
16-2124775-G-C	TSC2	c.2545+385G>C	-	IntronicSNV	-	22/41
17-73372456-A-C	GRB2	c.78+17176T>G	-	IntronicSNV	-	2/5
19-41755949-C-T	AXL	c.1711+1224C>T	-	IntronicSNV	-	14/19
22-24918246-G-A	UPB1	c.916+250G>A	-	IntronicSNV	-	8/9
7-35694283-CTT-C	HERPUD2	c.494+12759_494+12760delAA	-	IntronicDeletion	-	5/8
17-75370274-T-C	SEPT9	c.77-27867T>C	-	IntronicSNV	-	2/11
14-103967967-G-A	MARK3	c.1917-1252G>A	-	IntronicSNV	-	17/17
14-103967967-G-C	MARK3	c.1917-1252G>C	-	IntronicSNV	-	17/17
17-8483587-T-C	MYH10	c.531-2931A>G	-	IntronicSNV	-	4/42
19-10491005-C-T	TYK2	c.-186+51G>A	-	intron_variant	-	1/24
20-25177805-T-C	ENTPD6	c.-16+1302T>C	-	intron_variant	-	1/14
16-1141198-G-A	C1QTNF8	c.*5-604C>T	-	intron_variant	-	4/4
8-28705703-A-T	INTS9	c.198+2027T>A	-	IntronicSNV	-	3/16
19-45458731-A-C	CLPTM1	c.72+7A>C	-	IntronicSNV	-	1/13
19-49206005-C-G	FUT2	c.1-209C>G	-	IntronicSNV	-	1/1
19-49206005-C-T	FUT2	c.1-209C>T	-	IntronicSNV	-	1/1
12-9079498-C-T	PHC1	c.613-3533C>T	-	IntronicSNV	-	6/14
11-66253383-A-ATT	DPP3	c.361-625_361-624dup	-	IntronicInsertion	-	3/17
11-66253383-A-ATTTTTTC	DPP3	c.361-624_361-623insTTCTTTT	-	IntronicInsertion	-	3/17
19-45383562-G-A	NECTIN2	c.1043-1906G>A	-	IntronicSNV	-	5/8
12-124497782-C-CAAGACCAAATCCTATCTA	ZNF664	c.786+305_786+306insAAGACCAAATCCTATCTA	-	3-UTRInsertion	-	3/4
12-124497782-C-CATGACCAAATCCTATCTA	ZNF664	c.786+305_786+306insATGACCAAATCCTATCTA	-	3-UTRInsertion	-	3/4
19-12443161-CT-C	ZNF563	c.3+1132delA	-	IntronicDeletion	-	1/3
6-116422847-G-A	NT5DC1	c.93+661G>A	-	IntronicSNV	-	1/11
8-41901867-C-A	KAT6A	c.600+4029G>T	-	IntronicSNV	-	2/16
9-123682806-G-A	TRAF1	c.228+3177C>T	-	IntronicSNV	-	3/7
14-105819678-C-T	PACS2	c.207+4761C>T	-	IntronicSNV	-	3/24
14-105683386-T-C	BRF1	c.1772+495A>G	-	IntronicSNV	-	15/17
14-105789076-C-T	PACS2	c.119+7702C>T	-	IntronicSNV	-	1/24
17-29690454-CT-C	NF1	c.8377+2752delT	-	IntronicDeletion	-	57/57
15-67376384-C-T	SMAD3	c.206+17686C>T	-	IntronicSNV	-	1/8
16-81915521-T-C	PLCG2	c.692+963T>C	-	IntronicSNV	-	8/32
16-81918521-C-T	PLCG2	c.765+1575C>T	-	IntronicSNV	-	9/32
16-89032748-A-G	CBFA2T3	c.151+10317T>C	-	IntronicSNV	-	1/11
16-89037438-C-G	CBFA2T3	c.151+5627G>C	-	IntronicSNV	-	1/11
17-38013982-T-C	IKZF3	c.7+6391A>G	-	IntronicSNV	-	1/7
17-45811354-C-G	TBX21	c.491+43C>G	-	IntronicSNV	-	1/5
19-1646158-GCTCCCAAGGC-G	TCF3	c.145+187_145+196delGCCTTGGGAG	-	IntronicDeletion	-	3/18
19-1642191-ACAGACG-A	TCF3	c.145+4157_145+4162delCGTCTG	-	IntronicDeletion	-	3/18
17-72695167-T-C	CD300LF	c.447-547A>G	-	IntronicSNV	-	3/6
19-35835021-C-T	CD22	c.2036-711C>T	-	IntronicSNV	-	9/13
19-16438428-G-GC	KLF2	c.*590_*590dup	-	UnclassifiedInsertion	3/3	-
19-16438428-G-GCC	KLF2	c.*589_*590dup	-	UnclassifiedInsertion	3/3	-
19-45302504-G-A	CBLC	c.1363-1134G>A	-	IntronicSNV	-	9/10
11-128601031-T-C	FLI1	c.19-26979T>C	-	IntronicSNV	-	1/8
11-128387020-G-A	ETS1	c.215-26549C>T	-	IntronicSNV	-	3/9
19-49992217-C-CA	RPL13A	c.16-890_16-889insA	-	IntronicInsertion	-	1/7
9-37125984-C-A	ZCCHC7	c.1-346C>A	-	IntronicSNV	-	1/8
11-72487259-G-A	STARD10	c.207+4761C>T	-	IntronicSNV	-	2/6
17-45363310-C-A	ITGB3	c.615-316C>A	-	IntronicSNV	-	4/14
11-111231156-G-A	POU2AF1	c.17-1513C>T	-	IntronicSNV	-	1/4
11-111231156-G-T	POU2AF1	c.17-1513C>A	-	IntronicSNV	-	1/4
15-70376441-T-C	TLE3	c.235-7944A>G	-	IntronicSNV	-	4/19
9-136145404-CAAAAC-AAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAA	ABO	c.28+5169_28+5174delinsTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAAAAAAAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTTTTTTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
9-136145404-CAAAAC-AAAAAAAAAAAAAAAAAAAA	ABO	c.28+5169_28+5174delinsTTTTTTTTTTTTTTTTTTTT	-	IntronicBlockSubstitution	-	1/7
17-40300126-C-A	RAB5C	c.-89+6785G>T	-	intron_variant	-	1/5
17-40300126-C-T	RAB5C	c.-89+6785G>A	-	intron_variant	-	1/5
19-4970593-G-T	KDM4B	c.-109+1352G>T	-	intron_variant	-	1/22
19-2548396-G-A	GNG7	c.-38+6751C>T	-	intron_variant	-	3/4
6-126144140-GA-G	NCOA7	c.50+7600delA	-	IntronicDeletion	-	2/15
6-127445707-GT-G	RSPO3	c.97+5284delT	-	IntronicDeletion	-	1/4
10-105128739-A-AT	TAF5	c.559+448_559+448dupT	-	IntronicInsertion	-	1/10
6-126186055-AT-A	NCOA7	c.271+9671delT	-	IntronicDeletion	-	3/15
5-39356000-G-A	C9	c.77+8490C>T	-	IntronicSNV	-	1/10
6-134520809-T-A	SGK1	c.361+7685A>T	-	IntronicSNV	-	3/13
16-88563246-A-T	ZFPM1	c.268+7685A>T	-	IntronicSNV	-	3/9
12-4486891-T-C	FGF23	c.211+1647A>G	-	IntronicSNV	-	1/2
17-10035337-C-T	GAS7	c.183+66188G>A	-	IntronicSNV	-	1/13
19-14162024-C-T	IL27RA	c.1528+329C>T	-	IntronicSNV	-	11/13
1-6976880-G-A	CAMTA1	c.234+91610G>A	-	IntronicSNV	-	3/22
1-61671468-G-A	NFIA	c.559+117116G>A	-	IntronicSNV	-	2/10
1-61683381-C-G	NFIA	c.559+129029C>G	-	IntronicSNV	-	2/10
1-61683556-A-G	NFIA	c.559+129204A>G	-	IntronicSNV	-	2/10
1-61684005-A-G	NFIA	c.559+129653A>G	-	IntronicSNV	-	2/10
1-61885489-T-C	NFIA	c.1420+13090T>C	-	IntronicSNV	-	9/10
1-154480123-C-T	TDRD10	c.82+327C>T	-	IntronicSNV	-	3/12
1-67425503-T-C	MIER1	c.699+77T>C	-	IntronicSNV	-	7/13
5-53387761-C-A	ARL15	c.462+21271G>T	-	IntronicSNV	-	4/4
17-10032167-ACCTC-A	GAS7	c.183+69354_183+69357delGAGG	-	IntronicDeletion	-	1/13
2-164541449-ATTTTTT-A	FIGN	c.25+49958_25+49963delAAAAAA	-	IntronicDeletion	-	2/2
1-21901457-A-G	ALPL	c.998-769A>G	-	IntronicSNV	-	9/11
1-61925076-C-G	NFIA	c.*4084C>G	-	3-UTRSNV	11/11	-
1-61925076-C-T	NFIA	c.*4084C>T	-	3-UTRSNV	11/11	-
1-42071046-G-A	HIVEP3	c.1-20578C>T	-	IntronicSNV	-	3/8
1-27097393-C-CT	ARID1A	c.3199-216_3199-216dup	-	IntronicInsertion	-	11/19
15-60897422-C-A	RORA	c.197-73372G>T	-	IntronicSNV	-	2/10
1-21933568-C-T	RAP1GAP	c.1297-878G>A	-	IntronicSNV	-	17/24
1-25802056-A-G	TMEM57	c.1155-8551A>G	-	IntronicSNV	-	6/10
5-123996897-T-G	ZNF608	c.1163-11507A>C	-	IntronicSNV	-	3/9
12-4548426-G-A	FGF6	c.451-4869C>T	-	IntronicSNV	-	2/2
12-123560731-T-C	PITPNM2	c.-96+34201A>G	-	intron_variant	-	2/25
10-113915574-C-CA	GPAM	c.2311+47_2311+47dupT	-	IntronicInsertion	-	20/21
17-42186130-AC-A	HDAC5	c.94+1967delG	-	IntronicDeletion	-	3/26
8-81710349-G-A	ZNF704	c.221+23260C>T	-	IntronicSNV	-	2/8
12-102867636-A-C	IGF1	c.220+1785T>G	-	IntronicSNV	-	2/3
17-7502034-A-G	FXR2	c.660+2693T>C	-	IntronicSNV	-	7/16
17-7597789-G-A	WRAP53	c.642+4770G>A	-	IntronicSNV	-	4/10
17-7598364-G-A	WRAP53	c.642+5345G>A	-	IntronicSNV	-	4/10
12-49372586-G-A	WNT1	c.104+49G>A	-	IntronicSNV	-	1/3
11-5700510-A-G	TRIM5	c.417+481T>C	-	IntronicSNV	-	2/7
17-73226458-T-TTG	NUP85	c.1095-976_1095-975insGT	-	IntronicInsertion	-	11/18
17-7413810-G-A	POLR2A	c.3814-724G>A	-	IntronicSNV	-	22/28
19-19372723-T-C	HAPLN4	c.4-351A>G	-	IntronicSNV	-	1/4
11-5701883-A-G	TRIM5	c.1-476T>C	-	IntronicSNV	-	1/7
19-3375572-A-G	NFIC	c.31-6138A>G	-	IntronicSNV	-	1/10
15-41085375-G-GC	DNAJC17	c.79-13181_79-13181dup	-	IntronicInsertion	-	1/10
15-41085375-G-GCC	DNAJC17	c.79-13181_79-13180insGG	-	IntronicInsertion	-	1/10
5-123994509-A-C	ZNF608	c.1163-9119T>G	-	IntronicSNV	-	3/9
9-131612085-A-G	KYAT1	c.1-4401T>C	-	IntronicSNV	-	1/12
12-100898335-G-A	NR1H4	c.80-6221G>A	-	IntronicSNV	-	3/10
13-110937075-C-A	COL4A1	c.84+22216G>T	-	IntronicSNV	-	1/51
13-110941107-G-A	COL4A1	c.84+18184C>T	-	IntronicSNV	-	1/51
17-7457864-C-A	TNFSF12	c.374-2231C>A	-	IntronicSNV	-	5/6
17-7457864-C-T	TNFSF12	c.374-2231C>T	-	IntronicSNV	-	5/6
17-37916823-C-T	IKZF3	c.*5220G>A	-	3-UTRSNV	8/8	-
22-39821713-G-A	TAB1	c.922-995G>A	-	IntronicSNV	-	8/10
2-203164583-T-C	NOP58	c.1269-374T>C	-	IntronicSNV	-	12/14
16-2210452-A-G	TRAF7	c.1-3470A>G	-	IntronicSNV	-	1/20
8-11694650-C-T	FDFT1	c.1033-1247C>T	-	IntronicSNV	-	7/7
17-67134806-T-C	ABCA6	c.97-1165A>G	-	IntronicSNV	-	2/38
17-1995254-G-A	SMG6	c.3358-6059C>T	-	IntronicSNV	-	13/18
17-1995254-G-C	SMG6	c.3358-6059C>G	-	IntronicSNV	-	13/18
20-36842357-C-CAT	KIAA1755	c.2902-213_2902-212insAT	-	IntronicInsertion	-	13/13
12-50212497-C-T	NCKAP5L	c.-99+9608G>A	-	intron_variant	-	1/12
19-4973847-A-C	KDM4B	c.-109+4606A>C	-	intron_variant	-	1/22
18-67959823-A-G	SOCS6	c.-127+3497A>G	-	intron_variant	-	1/1
19-11342785-A-AG	DOCK6	c.2718+1093_2718+1093dupC	-	IntronicInsertion	-	22/47
16-72052348-A-G	DHODH	c.517+1343A>G	-	IntronicSNV	-	4/8
19-8432737-C-T	ANGPTL4	c.547+1534C>T	-	IntronicSNV	-	3/6
19-11298369-C-T	KANK2	c.1249+5138G>A	-	IntronicSNV	-	4/12
1-29566596-C-A	PTPRU	c.73+3367C>A	-	IntronicSNV	-	1/29
1-145669523-A-G	RNF115	c.428+6156A>G	-	IntronicSNV	-	4/8
19-11364238-A-G	DOCK6	c.132+77T>C	-	IntronicSNV	-	2/47
10-113940829-A-G	GPAM	c.103-476T>C	-	IntronicSNV	-	3/21
10-113940829-A-T	GPAM	c.103-476T>A	-	IntronicSNV	-	3/21
19-7207296-A-G	INSR	c.653-22648T>C	-	IntronicSNV	-	2/21
4-9830785-T-C	SLC2A9	c.1420-2561A>G	-	IntronicSNV	-	11/11
19-11338309-C-A	DOCK6	c.2815-156G>T	-	IntronicSNV	-	23/47
2-171890306-A-C	TLK1	c.1170-5391T>G	-	IntronicSNV	-	11/20
2-171890306-A-T	TLK1	c.1170-5391T>A	-	IntronicSNV	-	11/20
20-45602037-G-C	EYA2	c.1-16613G>C	-	IntronicSNV	-	1/15
19-11291592-G-A	KANK2	c.1250-2196C>T	-	IntronicSNV	-	4/12
19-11311885-G-A	DOCK6	c.5689-157C>T	-	IntronicSNV	-	44/47
19-11311885-G-C	DOCK6	c.5689-157C>G	-	IntronicSNV	-	44/47
2-69821008-A-C	AAK1	c.164-36898T>G	-	IntronicSNV	-	2/21
2-69821008-A-T	AAK1	c.164-36898T>A	-	IntronicSNV	-	2/21
4-9923835-C-T	SLC2A9	c.815-1639G>A	-	IntronicSNV	-	6/11
12-16743434-T-G	LMO3	c.206+10155A>C	-	IntronicSNV	-	2/3
15-60883394-C-T	RORA	c.197-59344G>A	-	IntronicSNV	-	2/10
4-7930264-A-G	AFAP1	c.-3+11119T>C	-	intron_variant	-	1/17
17-47421279-G-A	ZNF652	c.-259+17992C>T	-	intron_variant	-	1/5
4-88989621-CA-C	PKD2	c.2522+421delA	-	IntronicDeletion	-	13/14
10-68370497-G-A	CTNNA3	c.1374+10953C>T	-	IntronicSNV	-	10/17
4-144258420-A-C	GAB1	c.72+7A>C	-	IntronicSNV	-	1/9
4-40341460-G-A	CHRNA9	c.365+2079G>A	-	IntronicSNV	-	3/4
10-63812575-AGAGATG-A	ARID5B	c.846+1819_846+1824delGATGGA	-	IntronicDeletion	-	5/9
17-57114918-CAAAAAAAAAAAAAAAAAAAA-C	TRIM37	c.1753+4236_1753+4255del20	-	IntronicDeletion	-	17/23
1-202175150-TCAGGA-T	LGR6	c.212+11828_212+11832delAGGAC	-	IntronicDeletion	-	1/17
2-113949569-T-C	PSD4	c.1629-388T>C	-	IntronicSNV	-	5/16
1-205539553-G-GCCGGC	MFSD4A	c.230+1129_230+1130insGCCCG	-	IntronicInsertion	-	1/9
2-120936492-A-G	EPB41L5	c.*4009A>G	-	3-UTRSNV	25/25	-
12-50261769-C-T	FAIM2	c.*2518G>A	-	3-UTRSNV	12/12	-
4-9925603-A-G	SLC2A9	c.815-3407T>C	-	IntronicSNV	-	6/11
6-53693410-T-A	LRRC1	c.160-13498T>A	-	IntronicSNV	-	1/13
6-7251130-G-T	RREB1	c.*1929G>T	-	3-UTRSNV	13/13	-
10-60343346-G-C	BICC1	c.191-37269G>C	-	IntronicSNV	-	1/20
11-64787357-A-G	ARL2	c.340-534A>G	-	IntronicSNV	-	3/4
20-10640201-A-G	JAG1	c.440-831T>C	-	IntronicSNV	-	3/25
20-10640201-A-T	JAG1	c.440-831T>A	-	IntronicSNV	-	3/25
10-102720754-T-A	SLF2	c.3487-880T>A	-	IntronicSNV	-	19/19
10-102720754-T-C	SLF2	c.3487-880T>C	-	IntronicSNV	-	19/19
6-7138218-C-T	RREB1	c.-285+29925C>T	-	intron_variant	-	1/12
4-72617557-T-TA	GC	c.1395+677_1395+677dupT	-	IntronicInsertion	-	11/12
12-96371160-C-T	HAL	c.715+15298G>A	-	IntronicSNV	-	18/20
19-49260677-A-C	FGF21	c.339+391A>C	-	IntronicSNV	-	3/3
12-50272014-A-T	FAIM2	c.802-7578T>A	-	IntronicSNV	-	11/11
18-43252053-C-G	SLC14A2	c.2230-812C>G	-	IntronicSNV	-	16/19
18-43252053-C-T	SLC14A2	c.2230-812C>T	-	IntronicSNV	-	16/19
19-46183586-C-T	GIPR	c.1153-1276C>T	-	IntronicSNV	-	12/13
18-43239599-C-G	SLC14A2	c.1352-4151C>G	-	IntronicSNV	-	10/19
18-43239599-C-T	SLC14A2	c.1352-4151C>T	-	IntronicSNV	-	10/19
17-44947958-A-AC	WNT9B	c.78-1924_78-1924dup	-	IntronicInsertion	-	1/3
18-3640786-C-T	DLGAP1	c.1592-58540G>A	-	IntronicSNV	-	7/12
17-80681860-C-CA	FN3KRP	c.468+1108_468+1108dupA	-	IntronicInsertion	-	4/5
12-71130144-G-T	PTPRR	c.627+25107C>A	-	IntronicSNV	-	6/13
16-75240934-G-T	CTRB2	c.52+54C>A	-	IntronicSNV	-	1/6
12-66281348-C-A	HMGA2	c.249+48999C>A	-	IntronicSNV	-	3/4
17-1510048-A-G	SLC43A2	c.501+6441T>C	-	IntronicSNV	-	5/13
17-66383141-A-G	ARSG	c.1091+1828A>G	-	IntronicSNV	-	9/11
17-76144468-C-T	C17orf99	c.70+1476C>T	-	IntronicSNV	-	2/4
17-4884186-A-AT	CAMTA2	c.701-271_701-270insA	-	IntronicInsertion	-	8/22
16-300171-C-T	FAM234A	c.1-4242C>T	-	IntronicSNV	-	1/12
13-114775345-C-T	RASA3	c.1591-405G>A	-	IntronicSNV	-	16/23
19-51736573-G-A	CD33	c.746-1839G>A	-	IntronicSNV	-	4/6
19-51736573-G-C	CD33	c.746-1839G>C	-	IntronicSNV	-	4/6
19-51736573-G-T	CD33	c.746-1839G>T	-	IntronicSNV	-	4/6
17-80754129-C-A	TBCD	c.772-1504C>A	-	IntronicSNV	-	7/38
17-57829004-C-CTGAGG	VMP1	c.414+12701_414+12705dup	-	IntronicInsertion	-	5/11
12-71111551-G-A	PTPRR	c.1008-16448C>T	-	IntronicSNV	-	6/13
11-10481179-A-C	AMPD3	c.1-1888A>C	-	IntronicSNV	-	1/14
12-71543966-C-T	TSPAN8	c.61-5973G>A	-	IntronicSNV	-	2/8
19-41736054-C-CTGTT	AXL	c.587-816_587-813dup	-	IntronicInsertion	-	4/19
11-63875493-T-TA	FLRT1	c.1-8246_1-8246dup	-	IntronicInsertion	-	1/2
11-63875493-T-TAA	FLRT1	c.1-8246_1-8245insAA	-	IntronicInsertion	-	1/2
19-46019601-G-T	VASP	c.6-1320G>T	-	IntronicSNV	-	1/12
19-12981253-C-G	MAST1	c.3004-385C>G	-	IntronicSNV	-	22/25
17-4924947-T-C	KIF1C	c.2011-440T>C	-	IntronicSNV	-	21/22
19-3404143-C-A	NFIC	c.563-20961C>A	-	IntronicSNV	-	2/10
19-3404143-C-T	NFIC	c.563-20961C>T	-	IntronicSNV	-	2/10
12-48450110-A-AAT	SENP1	c.1408-7197_1408-7196dup	-	IntronicInsertion	-	13/17
12-48450110-A-AATATATTATTTAATATATTACATATAAT	SENP1	c.1408-7196_1408-7195insATTATATGTAATATATTAAATAATATAT	-	IntronicInsertion	-	13/17
11-2529035-G-A	KCNQ1	c.387-20123G>A	-	IntronicSNV	-	1/15
11-14802481-G-T	PDE3B	c.1030-5502G>T	-	IntronicSNV	-	2/15
17-7381170-C-T	ZBTB4	c.-81+1605G>A	-	intron_variant	-	1/3
16-57009651-TC-T	CETP	c.981+594delC	-	IntronicDeletion	-	10/15
11-14828990-C-G	PDE3B	c.1522+3394C>G	-	IntronicSNV	-	5/15
16-4715210-C-T	MGRN1	c.678+58C>T	-	IntronicSNV	-	7/16
11-126316025-A-G	KIRREL3	c.1125+629T>C	-	IntronicSNV	-	9/16
12-20591332-G-A	PDE3A	c.960+68154G>A	-	IntronicSNV	-	1/15
12-125340447-G-A	SCARB1	c.126+7694C>T	-	IntronicSNV	-	1/12
16-4677604-C-A	MGRN1	c.88+2555C>A	-	IntronicSNV	-	1/16
19-52132020-CGT-C	SIGLEC5	c.739+269_739+270delAC	-	IntronicDeletion	-	4/8
11-118420241-CTT-C	IFT46	c.672+2258_672+2259delAA	-	IntronicDeletion	-	9/11
7-36210924-A-AAT	EEPD1	c.878+16113_878+16114insAT	-	IntronicInsertion	-	2/7
11-118462554-A-G	ARCN1	c.985-870A>G	-	IntronicSNV	-	6/9
15-74712937-C-A	SEMA7A	c.179-1644G>T	-	IntronicSNV	-	1/13
11-117281264-G-A	CEP164	c.4097-280G>A	-	IntronicSNV	-	30/32
11-117281264-G-T	CEP164	c.4097-280G>T	-	IntronicSNV	-	30/32
11-68675497-C-T	IGHMBP2	c.257-116C>T	-	IntronicSNV	-	2/14
12-123285110-G-A	CCDC62	c.978-561G>A	-	IntronicSNV	-	8/12
12-123285110-G-C	CCDC62	c.978-561G>C	-	IntronicSNV	-	8/12
2-48962291-G-T	LHCGR	c.162-3854C>A	-	IntronicSNV	-	1/10
3-12473045-A-G	PPARG	c.1181-2352A>G	-	intron_variant	-	7/7
17-65390645-A-G	PITPNC1	c.48+16327A>G	-	IntronicSNV	-	1/8
20-46276663-G-T	NCOA3	c.3546+553G>T	-	IntronicSNV	-	18/22
1-110216436-G-A	GSTM2	c.567+2231G>A	-	IntronicSNV	-	7/7
3-185991986-T-G	DGKG	c.910+1350A>C	-	IntronicSNV	-	10/24
4-83822827-A-C	THAP9	c.80+792A>C	-	IntronicSNV	-	1/4
22-41866532-CTTTTTTTTTTTTTTTT-C	ACO2	c.36+1365_36+1380del16	-	IntronicDeletion	-	1/17
1-91414243-C-G	ZNF644	c.45-7377G>C	-	IntronicSNV	-	2/5
1-91414243-C-T	ZNF644	c.45-7377G>A	-	IntronicSNV	-	2/5
18-47122854-A-C	LIPG	c.*5962A>C	-	IntergenicSNV	10/10	-
18-47122854-A-G	LIPG	c.*5962A>G	-	IntergenicSNV	10/10	-
2-25863434-C-A	DTNB	c.68-1471G>T	-	IntronicSNV	-	2/20
19-11293809-A-G	KANK2	c.1250-4413T>C	-	IntronicSNV	-	4/12
1-208316725-G-C	PLXNA2	c.1372-917C>G	-	IntronicSNV	-	3/31
1-208316725-G-T	PLXNA2	c.1372-917C>A	-	IntronicSNV	-	3/31
16-69002561-C-A	TANGO6	c.2702-5370C>A	-	IntronicSNV	-	14/17
16-68138715-G-A	NFATC3	c.104-17175G>A	-	IntronicSNV	-	1/9
3-12438452-12438453---TGGAGT	PPARG	c.529+4204_529+4209dup	-	intron_variant	-	5/7
6-152521013-C-G	SYNE1	c.23145+1946G>C	-	IntronicSNV	-	127/145
7-137611873-G-C	CREB3L2	c.319+1023C>G	-	IntronicSNV	-	2/11
12-20595535-C-T	PDE3A	c.960+72357C>T	-	IntronicSNV	-	1/15
12-57487729-T-G	NAB2	c.1468+348T>G	-	IntronicSNV	-	6/6
12-102300024-T-C	DRAM1	c.342+4813T>C	-	IntronicSNV	-	3/6
12-123980283-A-G	RILPL1	c.801+2808T>C	-	IntronicSNV	-	4/6
14-24871530-C-T	NYNRIN	c.198+2880C>T	-	IntronicSNV	-	2/8
14-73348130-G-A	DPF3	c.32+12635C>T	-	IntronicSNV	-	1/10
11-2179864-AGCCCT-A	INS-IGF2	c.187+2146_187+2150delAGGGC	-	IntronicDeletion	-	2/4
11-2176042-G-A	INS-IGF2	c.188-5467C>T	-	IntronicSNV	-	2/4
12-111597131-T-TTC	CUX2	c.64-54872_64-54871dup	-	IntronicInsertion	-	1/21
9-4839511-T-A	RCL1	c.585-1721T>A	-	IntronicSNV	-	5/8
9-4839511-T-C	RCL1	c.585-1721T>C	-	IntronicSNV	-	5/8
7-138257206-A-AAATTCTTTCT	TRIM24	c.1879-1045_1879-1036dup	-	IntronicInsertion	-	11/18
5-88140962-T-C	MEF2C	c.1-21357A>G	-	IntronicSNV	-	1/10
16-962154-T-C	LMF1	c.515-1075A>G	-	IntronicSNV	-	3/10
12-111584341-G-A	CUX2	c.64-67663G>A	-	IntronicSNV	-	1/21
12-111584341-G-C	CUX2	c.64-67663G>C	-	IntronicSNV	-	1/21
7-1984066-C-G	MAD1L1	c.1597-7533G>C	-	IntronicSNV	-	16/18
7-1984066-C-T	MAD1L1	c.1597-7533G>A	-	IntronicSNV	-	16/18
15-74609703-G-C	CCDC33	c.1291-12827G>C	-	IntronicSNV	-	11/18
9-111941857-T-A	EPB41L4B	c.2488-2881A>T	-	IntronicSNV	-	24/25
9-111941857-T-C	EPB41L4B	c.2488-2881A>G	-	IntronicSNV	-	24/25
8-73780396-T-C	KCNB2	c.580-67774T>C	-	IntronicSNV	-	2/2
13-49986128-G-A	CAB39L	c.-32+21326C>T	-	intron_variant	-	3/10
13-49986128-G-T	CAB39L	c.-32+21326C>A	-	intron_variant	-	3/10
16-1864667-G-A	HAGH	c.747+2227C>T	-	IntronicSNV	-	7/8
16-1911585-T-C	MEIOB	c.259+401A>G	-	IntronicSNV	-	4/13
16-1916442-C-T	MEIOB	c.69+1666G>A	-	IntronicSNV	-	2/13
16-81504448-G-C	CMIP	c.300+25302G>C	-	IntronicSNV	-	1/20
17-38603549-A-G	IGFBP4	c.349+3213A>G	-	IntronicSNV	-	1/3
21-40682156-T-C	BRWD1	c.49+3213A>G	-	IntronicSNV	-	4/40
17-40363296-C-T	STAT5B	c.1680+706G>A	-	IntronicSNV	-	13/18
17-53357305-G-A	HLF	c.451+11858G>A	-	IntronicSNV	-	2/3
17-64210467-G-T	APOH	c.982+104C>A	-	IntronicSNV	-	7/7
19-54755663-G-A	LILRB5	c.1629+254C>T	-	IntronicSNV	-	12/12
22-50875135-C-T	PPP6R2	c.1602+254C>T	-	IntronicSNV	-	14/23
22-30375822-T-C	MTMR3	c.93+1302T>C	-	IntronicSNV	-	5/19
21-40683696-A-G	BRWD1	c.138+1302T>C	-	IntronicSNV	-	4/40
3-124927668-A-C	SLC12A8	c.51+2475T>G	-	IntronicSNV	-	2/13
16-1906760-CTTT-C	MEIOB	c.528+973_528+975delAAA	-	IntronicDeletion	-	6/13
22-30367275-AGCTAGATGTTGTCT-A	MTMR3	c.3+224_3+237del14	-	IntronicDeletion	-	3/19
18-50769241-GGT-G	DCC	c.1911+27305_1911+27306delGT	-	IntronicDeletion	-	12/28
22-30406548-AGGTT-A	MTMR3	c.1121+1432_1121+1435delGTTG	-	IntronicDeletion	-	12/19
17-62504048-A-G	CEP95	c.20-662A>G	-	IntronicSNV	-	1/19
16-1683446-G-C	CRAMP1	c.694+1080G>C	-	IntronicSNV	-	4/20
19-53841052-T-C	ZNF845	c.1-3509T>C	-	IntronicSNV	-	1/3
16-1913621-G-A	MEIOB	c.128-1504C>T	-	IntronicSNV	-	3/13
16-81722532-G-A	CMIP	c.1389-2848G>A	-	IntronicSNV	-	10/20
16-81722532-G-C	CMIP	c.1389-2848G>C	-	IntronicSNV	-	10/20
16-81613122-T-A	CMIP	c.301-28050T>A	-	IntronicSNV	-	1/20
16-81613122-T-C	CMIP	c.301-28050T>C	-	IntronicSNV	-	1/20
16-81613122-T-G	CMIP	c.301-28050T>G	-	IntronicSNV	-	1/20
16-1141324-C-G	C1QTNF8	c.*5-730G>C	-	intron_variant	-	4/4
19-10491005-C-A	TYK2	c.-186+51G>T	-	intron_variant	-	1/24
19-10491005-C-G	TYK2	c.-186+51G>C	-	intron_variant	-	1/24
4-99805189-C-CA	EIF4E	c.539+883_539+883dupT	-	IntronicInsertion	-	6/6
4-100460623-G-A	C4orf17	c.836+96G>A	-	IntronicSNV	-	7/8
1-23724274-G-A	TCEA3	c.607+11C>T	-	IntronicSNV	-	6/10
19-51632416-T-G	SIGLEC9	c.1203+649T>G	-	IntronicSNV	-	6/6
1-176748136-C-A	PAPPA2	c.4715+7820C>A	-	IntronicSNV	-	17/22
1-230411756-G-A	GALNT2	c.1560+1446G>A	-	IntronicSNV	-	15/15
3-133478557-T-G	TF	c.1203+384T>G	-	IntronicSNV	-	9/16
4-100444178-T-C	C4orf17	c.337+312T>C	-	IntronicSNV	-	3/8
17-7079752-TCA-T	ASGR1	c.355+395_355+396delTG	-	IntronicDeletion	-	5/8
20-44638097-GCA-G	MMP9	c.138+396_138+397delAC	-	IntronicDeletion	-	1/12
19-54622407-GAA-G	PRPF31	c.238+397_238+398delAA	-	IntronicDeletion	-	3/13
6-33052889-G-A	HLA-DPB1	c.527G>A	p.R176H	Missense	3/6	-
6-35195447-C-T	SCUBE3	c.176C>T	p.S59F	Missense	2/22	-
20-3687324-G-A	SIGLEC1	c.79C>T	p.Q27*	Nonsense	3/22	-
11-47296250-CG-TA	MADD	c.199_200delCGinsTA	p.R67*	Nonsense	3/36	-
1-247614353-CT-TA	OR2B11	c.931_932delAGinsTA	p.R311*	Nonsense	1/1	-
16-69154430-GCG-TCA	CHTF8	c.262_264delCGCinsTGA	p.R88*	Nonsense	4/4	-
3-133485263-A-C	TF	c.1472A>C	p.N491T	Missense	12/17	-
14-94756823-G-C	SERPINA10	c.108C>G	p.N36K	Missense	2/5	-
1-161823052-A-C	ATF6	c.1472A>C	p.E491A	Missense	12/16	-
16-2164214-G-A	PKD1	c.2810C>T	p.A937V	Missense	11/46	-
19-45567668-C-A	CLASRP	c.1189C>A	p.R397S	Missense	13/21	-
17-7287939-C-A	TNK1	c.1003C>A	p.R335=	Synonymous	7/13	-
19-45406343-C-A	TOMM40	c.1003C>A	p.L335M	Missense	9/9	-
19-46405011-GCC-TCA	MYPOP	c.19_21delGGCinsTGA	p.G7*	Nonsense	2/3	-
1-110456890-GGC-TGA	CSF1	c.49_51delGGCinsTGA	p.G17*	Nonsense	2/9	-
19-47281987-G-T	SLC1A5	c.1003C>A	p.R335S	Missense	5/8	-
15-79103530-C-G	ADAMTS7	c.33G>C	p.A11=	Synonymous	1/24	-
14-50910460-G-T	MAP4K5	c.1466C>A	p.T489N	Missense	20/33	-
15-79092616-G-T	ADAMTS7	c.374C>A	p.T125N	Missense	2/24	-
15-79083102-G-T	ADAMTS7	c.938C>A	p.T313N	Missense	6/24	-
15-79083030-G-T	ADAMTS7	c.1010C>A	p.T337N	Missense	6/24	-
14-50941801-G-T	MAP4K5	c.536C>A	p.P179H	Missense	9/33	-
15-79090400-G-T	ADAMTS7	c.512C>A	p.A171D	Missense	3/24	-
15-79090409-A-G	ADAMTS7	c.503T>C	p.L168P	Missense	3/24	-
1-21806669-T-C	NBPF3	c.1334T>C	p.F445S	Missense	11/15	-
8-116631813-G-T	TRPS1	c.512C>A	p.P171Q	Missense	3/7	-
14-50923311-G-T	MAP4K5	c.938C>A	p.P313H	Missense	14/33	-
17-7359936-T-C	CHRNB1	c.1400T>C	p.V467A	Missense	11/11	-
17-47788645-A-G	FAM117A	c.1334T>C	p.V445A	Missense	8/8	-
17-7350862-T-C	CHRNB1	c.503T>C	p.V168A	Missense	6/11	-
12-644384-A-C	B4GALNT3	c.222A>C	p.P74=	Synonymous	2/20	-
3-122284741-A-C	DTX3L	c.223A>C	p.I75L	Missense	2/5	-
3-122284741-A-T	DTX3L	c.223A>T	p.I75L	Missense	2/5	-
11-76901178-G-A	MYO7A	c.3744G>A	p.E1248=	Synonymous	29/49	-
17-78317677-G-A	RNF213	c.6204G>A	p.V2068=	Synonymous	28/68	-
16-11002983-C-G	CIITA	c.2755C>G	p.P919A	Missense	12/20	-
19-10335531-G-C	S1PR2	c.51C>G	p.H17Q	Missense	2/2	-
19-10478817-G-C	TYK2	c.379C>G	p.P127A	Missense	5/25	-
22-44324718-C-T	PNPLA3	c.435C>T	p.S145=	Synonymous	3/9	-
4-25382042-C-T	ANAPC4	c.176C>T	p.P59L	Missense	3/29	-
8-145757696-G-A	ARHGAP39	c.2973C>T	p.H991=	Synonymous	9/11	-
10-100995508-G-C	HPSE2	c.52C>G	p.P18A	Missense	1/12	-
10-101499517-C-T	CUTC	c.184C>T	p.P62S	Missense	3/9	-
19-49206231-G-C	FUT2	c.18G>C	p.M6I	Missense	2/2	-
22-38493070-A-T	BAIAP2L2	c.465+1000T>A	p.L194H	UnclassifiedSNV	7/14	-
11-93886660-CA-TG	PANX1	c.185_186delCAinsTG	p.T62M	Missense	2/5	-
1-23810526-T-C	ASAP3	c.101A>G	p.Y34C	Missense	1/25	-
2-233708864-A-G	GIGYF2	c.2998A>G	p.K1000E	Missense	24/29	-
11-959470-A-G	AP2A2	c.101A>G	p.N34S	Missense	2/22	-
11-116658309-T-G	ZPR1	c.222A>C	p.I74=	Synonymous	2/14	-
2-120889210-A-G	EPB41L5	c.1518A>G	p.S506=	Synonymous	18/25	-
1-180904557-C-T	KIAA1614	c.1512C>T	p.L504=	Synonymous	5/9	-
4-144359201-G-C	GAB1	c.643G>C	p.D215H	Missense	4/10	-
2-212589899-C-G	ERBB4	c.643G>C	p.E215Q	Missense	6/28	-
12-122516943-C-T	MLXIP	c.184C>T	p.R62W	Missense	1/17	-
19-53352374-C-T	ZNF468	c.108G>A	p.V36=	Synonymous	3/4	-
19-53345343-C-T	ZNF468	c.204G>A	p.V68=	Synonymous	4/4	-
16-2163167-G-A	PKD1	c.2980C>T	p.L994F	Missense	12/46	-
16-2104314-C-T	TSC2	c.354C>T	p.V118=	Synonymous	5/42	-
12-6882484-CT-TG	LAG3	c.185_186delCTinsTG	p.T62M	Missense	2/8	-
12-6883011-C-T	LAG3	c.355C>T	p.R119C	Missense	3/8	-
17-31618875-C-T	ASIC2	c.259G>A	p.A87T	Missense	1/10	-
19-14172779-C-G	PALM3	c.14G>C	p.S5T	missense_variant	1/7	-
19-14172779-C-T	PALM3	c.14G>A	p.S5N	missense_variant	1/7	-
10-94836912-A-G	CYP26A1	c.1345A>G	p.K449E	Missense	7/7	-
16-88815800-C-T	PIEZO1	c.152G>A	p.G51D	Missense	2/51	-
17-76121337-C-T	TMC6	c.438G>A	p.Q146=	Synonymous	6/20	-
17-80828126-A-G	TBCD	c.1345A>G	p.T449A	Missense	14/39	-
16-81478998-G-A	CMIP	c.152G>A	p.R51K	Missense	1/21	-
11-14856567-T-C	PDE3B	c.2246T>C	p.V749A	Missense	11/16	-
12-48535754-A-G	PFKM	c.1558A>G	p.I520V	Missense	17/23	-
19-2834236-CGG-AGC	ZNF554	c.1003_1005delCGGinsAGC	p.R335S	Missense	5/5	-
4-3449936-A-G	HGFAC	c.1718A>G	p.Y573C	Missense	13/14	-
1-91405193-T-C	ZNF644	c.1718A>G	p.K573R	Missense	3/6	-
21-40608532-G-C	BRWD1	c.2755C>G	p.P919A	Missense	23/41	-
19-54755925-C-T	LILRB5	c.1621G>A	p.D541N	Missense	12/13	-
22-50874876-G-A	PPP6R2	c.1597G>A	p.D533N	Missense	14/24	-
17-53342897-C-G	HLF	c.52C>G	p.P18A	Missense	1/4	-
1-109795456-C-G	CELSR2	c.2755C>G	p.P919A	Missense	1/34	-
16-1884349-C-T	MEIOB	c.1324G>A	p.A442T	Missense	14/14	-
19-49939898-T-G	SLC17A7	c.223A>C	p.I75L	Missense	2/12	-
6-31473481-G-C	MICB	c.158G>C	p.G53A	Missense	2/6	-
10-18116612-G-A	MRC1	c.581G>A	p.C194Y	Missense	3/30	-
6-161060449-C-T	LPA	c.776G>A	p.G259D	Missense	6/39	-
8-41839379-C-T	KAT6A	c.803G>A	p.C268Y	Missense	4/17	-
6-26093132-G-A	HFE	c.836G>A	p.R279K	Missense	4/6	-
6-26091740-G-A	HFE	c.539G>A	p.R180K	Missense	3/6	-
6-33048537-G-C	HLA-DPB1	c.189G>C	p.E63D	Missense	2/6	-
17-7400812-C-T	POLR2A	c.957C>T	p.D319=	Synonymous	6/29	-
17-67136776-T-C	ABCA6	c.69A>G	p.K23=	Synonymous	2/39	-
17-7533515-A-G	SHBG	c.25A>G	p.T9A	Missense	1/8	-
11-64022264-A-C	PLCB3	c.222A>C	p.T74=	Synonymous	3/31	-
11-64359251-A-C	SLC22A12	c.223A>C	p.I75L	Missense	1/10	-
15-75042722-G-C	CYP1A2	c.643G>C	p.E215Q	Missense	2/7	-
4-69964384-A-G	UGT2B7	c.848A>G	p.K283R	Missense	2/6	-
11-14665981-C-T	PDE3B	c.360C>T	p.S120=	Synonymous	1/16	-
17-45810927-T-C	TBX21	c.107T>C	p.F36S	Missense	1/6	-
9-37126488-G-C	ZCCHC7	c.159G>C	p.E53D	Missense	2/9	-
9-37126488-G-T	ZCCHC7	c.159G>T	p.E53D	Missense	2/9	-
12-120114390-G-A	PRKAB1	c.581G>A	p.C194Y	Missense	5/7	-
9-37305563-G-A	ZCCHC7	c.803G>A	p.C268Y	Missense	5/9	-
15-70388518-A-G	TLE3	c.107T>C	p.L36P	Missense	2/20	-
14-105752692-A-G	BRF1	c.206T>C	p.L69P	Missense	2/18	-
19-16436787-G-A	KLF2	c.836G>A	p.C279Y	Missense	2/3	-
17-37947734-C-T	IKZF3	c.527G>A	p.C176Y	Missense	5/8	-
19-50099218-G-A	PRR12	c.1626G>A	p.S542=	Synonymous	4/14	-
12-4553389-A-G	FGF6	c.360T>C	p.I120=	Synonymous	2/3	-