PMID: 23028602

Lactase persistence and lipid pathway selection in the Maasai.

PloS one

K Wagh, A Bhatia, G Alexe, A Reddy, V Ravikumar, M Seiler, M Boemo, M Yao, L Cronk, A Naqvi, S Ganesan, AJ Levine, G Bhanot

2012

1098 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-200032080-C-A	NR5A2	c.894+14134C>A	-	IntronicSNV	-	4/6
10-95164206-T-A	MYOF	c.730-230A>T	-	IntronicSNV	-	7/53
10-95164206-T-C	MYOF	c.730-230A>G	-	IntronicSNV	-	7/53
2-163138785-G-A	IFIH1	c.1306+91C>T	-	IntronicSNV	-	6/15
2-135715957-A-T	CCNT2	c.*3739A>T	-	3-UTRSNV	9/9	-
3-113652774-A-G	GRAMD1C	c.1352+274A>G	-	IntronicSNV	-	12/17
20-37237147-T-A	ARHGAP40	c.137+6425T>A	-	IntronicSNV	-	1/14
20-37237147-T-G	ARHGAP40	c.137+6425T>G	-	IntronicSNV	-	1/14
20-17585552-G-A	DSTN	c.337+276G>A	-	IntronicSNV	-	4/4
4-173103821-T-A	GALNTL6	c.139-46986T>A	-	IntronicSNV	-	2/12
2-135973768-A-G	ZRANB3	c.2495+1267T>C	-	IntronicSNV	-	17/20
7-99426802-A-G	CYP3A43	c.71+993A>G	-	IntronicSNV	-	1/9
2-65298657-A-G	CEP68	c.427A>G	p.Ile143Val	Missense	3/7	-
2-135967778-A-G	ZRANB3	c.2496-1230T>C	-	IntronicSNV	-	17/20
16-76521236-T-A	CNTNAP4	c.1880-2347T>A	-	intron_variant	-	13/24
16-76521236-T-C	CNTNAP4	c.1880-2347T>C	-	intron_variant	-	13/24
6-51735261-G-T	PKHD1	c.7486+41C>A	-	IntronicSNV	-	47/66
2-135127474-A-G	MGAT5	c.1380+7495A>G	-	IntronicSNV	-	10/15
3-191946391-T-C	FGF12	c.415-57946A>G	-	IntronicSNV	-	3/4
11-67013660-T-C	KDM2A	c.1965+73T>C	-	IntronicSNV	-	15/20
14-32328830-C-T	NUBPL	c.*444C>T	-	3-UTRSNV	11/11	-
2-136602291-C-T	MCM6	c.2210-37G>A	-	IntronicSNV	-	15/16
14-30125660-A-G	PRKD1	c.696+7245T>C	-	IntronicSNV	-	4/17
9-34399002-C-A	FAM219A	c.*1960G>T	-	3-UTRSNV	6/6	-
2-135340840-C-G	TMEM163	c.323-31178G>C	-	IntronicSNV	-	2/7
3-191979032-A-C	FGF12	c.414+74118T>G	-	IntronicSNV	-	3/4
1-155038756-T-C	EFNA4	c.114-450T>C	-	IntronicSNV	-	1/3
4-143722951-T-A	INPP4B	c.-353+44411A>T	-	intron_variant	-	1/26
4-143722951-T-C	INPP4B	c.-353+44411A>G	-	intron_variant	-	1/26
5-32159329-A-G	GOLPH3	c.225+14587T>C	-	IntronicSNV	-	1/3
12-56717466-C-T	PAN2	c.2173-84G>A	-	IntronicSNV	-	14/25
7-42042398-A-G	GLI3	c.1497+20669T>C	-	IntronicSNV	-	10/14
2-135392958-G-A	TMEM163	c.322+77812C>T	-	IntronicSNV	-	2/7
1-92550586-G-A	BTBD8	c.150-3669G>A	-	IntronicSNV	-	1/8
21-27032815-T-C	JAM2	c.67+20615T>C	-	IntronicSNV	-	1/8
2-136630687-G-C	MCM6	c.108-274C>G	-	IntronicSNV	-	1/16
6-51732628-G-A	PKHD1	c.7733+33C>T	-	IntronicSNV	-	48/66
5-115886945-G-T	SEMA6A	c.-39+22936C>A	-	intron_variant	-	1/18
2-135777504-A-G	MAP3K19	c.138+1781T>C	-	IntronicSNV	-	2/9
2-136630687-G-A	MCM6	c.108-274C>T	-	IntronicSNV	-	1/16
2-135079528-C-T	MGAT5	c.573+3218C>T	-	IntronicSNV	-	4/15
5-142162633-G-A	ARHGAP26	c.154+12153G>A	-	IntronicSNV	-	1/22
2-135079528-C-G	MGAT5	c.573+3218C>G	-	IntronicSNV	-	4/15
2-135451302-G-T	TMEM163	c.322+19468C>A	-	IntronicSNV	-	2/7
16-76523792-A-G	CNTNAP4	c.2077+12A>G	-	intron_variant	-	14/24
6-109941321-C-T	AK9	c.1255-882G>A	-	IntronicSNV	-	12/40
2-135762980-C-T	MAP3K19	c.235+25G>A	-	IntronicSNV	-	3/9
12-6437389-T-C	PLEKHG6	c.*78T>C	-	3-UTRSNV	16/16	-
9-132940007-C-T	NCS1	c.64+5001C>T	-	IntronicSNV	-	1/7
6-109941321-C-G	AK9	c.1255-882G>C	-	IntronicSNV	-	12/40
22-23625655-C-T	BCR	c.2116-509C>T	-	IntronicSNV	-	8/22
2-163416447-G-T	KCNH7	c.308-22857C>A	-	IntronicSNV	-	2/15
2-163416447-G-A	KCNH7	c.308-22857C>T	-	IntronicSNV	-	2/15
2-136095604-C-T	ZRANB3	c.677+7516G>A	-	IntronicSNV	-	6/20
12-56607927-C-T	RNF41	c.1-96G>A	-	IntronicSNV	-	2/6
3-197564995-G-T	LRCH3	c.1252-1197G>T	-	IntronicSNV	-	9/18
1-92519197-C-T	EPHX4	c.857+982C>T	-	IntronicSNV	-	6/6
16-12776837-G-A	CPPED1	c.716-17865C>T	-	IntronicSNV	-	3/3
2-136542560-A-G	UBXN4	c.*2103A>G	-	3-UTRSNV	13/13	-
3-140696799-C-T	SLC25A36	c.*1504C>T	-	3-UTRSNV	7/7	-
15-75111984-C-T	LMAN1L	c.718+371C>T	-	IntronicSNV	-	6/13
17-72681941-C-T	RAB37	c.72+14144C>T	-	IntronicSNV	-	1/8
12-56717466-C-G	PAN2	c.2173-84G>C	-	IntronicSNV	-	14/25
2-135094416-G-A	MGAT5	c.645+557G>A	-	IntronicSNV	-	5/15
14-78065539-T-A	SPTLC2	c.133-1816A>T	-	IntronicSNV	-	1/11
1-12305286-G-C	VPS13D	c.447+612G>C	-	IntronicSNV	-	5/69
5-14681797-C-T	OTULIN	c.468+81C>T	-	IntronicSNV	-	4/6
7-42053928-C-T	GLI3	c.1497+9139G>A	-	IntronicSNV	-	10/14
19-47692870-C-T	SAE1	c.734-7620C>T	-	IntronicSNV	-	6/8
3-3123326-A-G	IL5RA	c.995-5015T>C	-	IntronicSNV	-	10/12
5-14751055-G-T	ANKH	c.687+123C>A	-	IntronicSNV	-	5/11
3-191934829-G-A	FGF12	c.415-46384C>T	-	IntronicSNV	-	3/4
2-136250285-C-T	ZRANB3	c.161+11614G>A	-	IntronicSNV	-	2/20
4-148763687-C-T	ARHGAP10	c.313-4615C>T	-	IntronicSNV	-	3/22
2-136429707-G-A	R3HDM1	c.2048-3195G>A	-	IntronicSNV	-	18/25
6-33050279-A-G	HLA-DPB1	c.364+1567A>G	-	IntronicSNV	-	2/5
2-136001215-T-G	ZRANB3	c.1540-12718A>C	-	IntronicSNV	-	12/20
2-135693537-C-T	CCNT2	c.241-874C>T	-	IntronicSNV	-	2/8
2-136198435-C-A	ZRANB3	c.162-50045G>T	-	IntronicSNV	-	2/20
6-33035877-A-C	HLA-DPA1	c.*550T>G	-	IntronicSNV	-	4/4
6-33035877-A-G	HLA-DPA1	c.*550T>C	-	IntronicSNV	-	4/4
8-10549767-A-G	C8orf74	c.242-5342A>G	-	IntronicSNV	-	2/3
2-135231203-T-C	TMEM163	c.556-7407A>G	-	IntronicSNV	-	5/7
2-136276305-T-C	ZRANB3	c.-8+12392A>G	-	intron_variant	-	1/20
17-72673549-G-A	RAB37	c.72+5752G>A	-	IntronicSNV	-	1/8
12-50847810-A-G	LARP4	c.1018-287A>G	-	IntronicSNV	-	9/15
2-135392958-G-C	TMEM163	c.322+77812C>G	-	IntronicSNV	-	2/7
5-32131204-G-C	GOLPH3	c.473-4462C>G	-	IntronicSNV	-	3/3
10-93000211-G-A	PCGF5	c.113-30G>A	-	IntronicSNV	-	2/9
10-93000211-G-T	PCGF5	c.113-30G>T	-	IntronicSNV	-	2/9
2-135997275-C-A	ZRANB3	c.1540-8778G>T	-	IntronicSNV	-	12/20
2-136187345-C-T	ZRANB3	c.162-38955G>A	-	IntronicSNV	-	2/20
6-15503575-C-T	JARID2	c.2449-1156C>T	-	IntronicSNV	-	8/17
15-29661095-T-G	FAM189A1	c.276+12884A>C	-	IntronicSNV	-	2/10
6-109904031-C-T	AK9	c.2114+2295G>A	-	IntronicSNV	-	19/40
15-29661095-T-A	FAM189A1	c.276+12884A>T	-	IntronicSNV	-	2/10
2-136420908-A-C	R3HDM1	c.2047+1945A>C	-	IntronicSNV	-	18/25
5-115887466-G-A	SEMA6A	c.-39+22415C>T	-	intron_variant	-	1/18
5-115887466-G-T	SEMA6A	c.-39+22415C>A	-	intron_variant	-	1/18
2-136733897-T-C	DARS	c.217+2947A>G	-	IntronicSNV	-	3/15
6-51735261-G-C	PKHD1	c.7486+41C>G	-	IntronicSNV	-	47/66
4-48229886-A-G	TEC	c.138+608T>C	-	IntronicSNV	-	2/17
2-136214800-T-C	ZRANB3	c.161+47099A>G	-	IntronicSNV	-	2/20
11-11365991-A-G	GALNT18	c.1093-3440T>C	-	IntronicSNV	-	6/10
11-11370093-A-G	GALNT18	c.1093-7542T>C	-	IntronicSNV	-	6/10
3-4461569-G-T	SUMF1	c.602+179C>A	-	IntronicSNV	-	4/8
3-4461569-G-A	SUMF1	c.602+179C>T	-	IntronicSNV	-	4/8
2-135958693-C-T	ZRANB3	c.3142-683G>A	-	IntronicSNV	-	20/20
6-109928946-A-G	AK9	c.1842+2622T>C	-	IntronicSNV	-	17/40
15-72893022-C-G	ARIH1	c.*17389C>G	-	IntergenicSNV	14/14	-
9-4733379-G-A	AK3	c.151+7558C>T	-	IntronicSNV	-	1/4
1-240312435-C-T	FMN2	c.1782+25790C>T	-	IntronicSNV	-	2/17
9-4733379-G-C	AK3	c.151+7558C>G	-	IntronicSNV	-	1/4
2-135401339-T-A	TMEM163	c.322+69431A>T	-	IntronicSNV	-	2/7
12-71529491-G-A	TSPAN8	c.444+2242C>T	-	IntronicSNV	-	6/8
10-45878050-G-C	ALOX5	c.270G>C	p.Thr90Thr	Synonymous	2/14	-
3-186260740-A-T	CRYGS	c.21+1355T>A	-	IntronicSNV	-	1/2
9-130125184-G-A	GARNL3	c.2095-2395G>A	-	IntronicSNV	-	21/27
2-135763318-G-A	MAP3K19	c.139-217C>T	-	IntronicSNV	-	2/9
20-37238703-C-T	ARHGAP40	c.137+7981C>T	-	IntronicSNV	-	1/14
4-148779548-G-T	ARHGAP10	c.486+743G>T	-	IntronicSNV	-	5/22
2-135849613-G-A	RAB3GAP1	c.283+913G>A	-	IntronicSNV	-	4/23
4-148779548-G-C	ARHGAP10	c.486+743G>C	-	IntronicSNV	-	5/22
2-135925002-T-G	RAB3GAP1	c.2710-1113T>G	-	IntronicSNV	-	23/23
15-29638189-G-C	FAM189A1	c.276+35790C>G	-	IntronicSNV	-	2/10
2-136007349-T-C	ZRANB3	c.1539+15755A>G	-	IntronicSNV	-	12/20
1-208396156-T-C	PLXNA2	c.1-4889A>G	-	IntronicSNV	-	1/31
6-76586197-C-A	MYO6	c.2077+3180C>A	-	IntronicSNV	-	20/34
18-57358418-T-A	CCBE1	c.212+5443A>T	-	IntronicSNV	-	2/10
2-136046601-T-C	ZRANB3	c.967-13276A>G	-	IntronicSNV	-	8/20
3-191932318-T-G	FGF12	c.415-43873A>C	-	IntronicSNV	-	3/4
2-136711064-C-T	DARS	c.320+7902G>A	-	IntronicSNV	-	4/15
9-34425617-G-A	FAM219A	c.61-19655C>T	-	IntronicSNV	-	1/5
18-46608271-A-T	DYM	c.1860+15501T>A	-	IntronicSNV	-	16/16
18-46608271-A-G	DYM	c.1860+15501T>C	-	IntronicSNV	-	16/16
2-136545844-C-G	LCT	c.*50G>C	-	3-UTRSNV	17/17	-
1-182759592-G-T	NPL	c.-72+652G>T	-	intron_variant	-	1/12
6-51720838-T-C	PKHD1	c.7764A>G	p.Leu2588Leu	Synonymous	49/67	-
2-136147948-G-A	ZRANB3	c.180+424C>T	-	IntronicSNV	-	3/20
2-136418741-T-C	R3HDM1	c.1924-99T>C	-	IntronicSNV	-	17/25
5-169266257-G-A	DOCK2	c.2704-1504G>A	-	IntronicSNV	-	26/51
5-169266257-G-C	DOCK2	c.2704-1504G>C	-	IntronicSNV	-	26/51
1-12319994-G-T	VPS13D	c.1111-756G>T	-	IntronicSNV	-	10/69
2-136721603-A-G	DARS	c.218-2535T>C	-	IntronicSNV	-	3/15
2-136721603-A-T	DARS	c.218-2535T>A	-	IntronicSNV	-	3/15
2-163152022-G-A	IFIH1	c.770-1844C>T	-	IntronicSNV	-	3/15
22-23625330-G-T	BCR	c.2116-834G>T	-	IntronicSNV	-	8/22
4-148445429-A-C	EDNRA	c.421-11600A>C	-	IntronicSNV	-	2/5
8-18645308-G-A	PSD3	c.2082+11497C>T	-	IntronicSNV	-	8/15
1-241378595-C-T	RGS7	c.79-116533G>A	-	IntronicSNV	-	2/17
8-19472837-A-C	CSGALNACT1	c.-543-13461T>G	-	intron_variant	-	1/9
3-191947215-T-C	FGF12	c.415-58770A>G	-	IntronicSNV	-	3/4
11-117610854-G-A	DSCAML1	c.511+36652C>T	-	intron_variant	-	3/32
14-81495039-C-T	TSHR	c.171-33453C>T	-	IntronicSNV	-	1/9
2-136020977-A-C	ZRANB3	c.1539+2127T>G	-	IntronicSNV	-	12/20
5-137876920-G-C	ETF1	c.86+1602C>G	-	IntronicSNV	-	2/10
14-61961410-G-C	PRKCH	c.1433+9036G>C	-	IntronicSNV	-	10/13
14-51552126-G-T	TRIM9	c.822+8710C>A	-	IntronicSNV	-	1/9
2-135876308-C-T	RAB3GAP1	c.649-2081C>T	-	IntronicSNV	-	7/23
2-136068800-A-T	ZRANB3	c.966+2259T>A	-	IntronicSNV	-	8/20
2-136068800-A-G	ZRANB3	c.966+2259T>C	-	IntronicSNV	-	8/20
3-191924614-A-C	FGF12	c.415-36169T>G	-	IntronicSNV	-	3/4
2-136133578-G-A	ZRANB3	c.180+14794C>T	-	IntronicSNV	-	3/20
2-135370656-G-T	TMEM163	c.323-60994C>A	-	IntronicSNV	-	2/7
7-139670417-T-C	TBXAS1	c.1134+8385T>C	-	intron_variant	-	9/12
7-139670417-T-A	TBXAS1	c.1134+8385T>A	-	intron_variant	-	9/12
12-56417403-T-C	IKZF4	c.88-52T>C	-	IntronicSNV	-	1/7
16-53771162-T-C	FTO	c.45+33021T>C	-	IntronicSNV	-	1/8
20-57833662-G-A	ZNF831	c.*3864G>A	-	3-UTRSNV	5/5	-
2-135699619-T-C	CCNT2	c.431-563T>C	-	IntronicSNV	-	4/8
2-163128725-A-G	IFIH1	c.2616+11T>C	-	IntronicSNV	-	13/15
2-218757417-T-G	TNS1	c.407+254A>C	-	IntronicSNV	-	9/32
2-136723504-C-T	DARS	c.218-4436G>A	-	IntronicSNV	-	3/15
20-941312-G-T	RSPO4	c.596-203C>A	-	IntronicSNV	-	4/4
3-191924614-A-G	FGF12	c.415-36169T>C	-	IntronicSNV	-	3/4
6-109994310-T-C	AK9	c.182-940A>G	-	IntronicSNV	-	3/40
2-136080822-A-G	ZRANB3	c.678-7722T>C	-	IntronicSNV	-	6/20
2-136582694-T-G	LCT	c.805-1121A>C	-	IntronicSNV	-	3/16
1-155026114-C-T	ADAM15	c.263+145C>T	-	IntronicSNV	-	3/20
2-163152351-T-C	IFIH1	c.770-2173A>G	-	IntronicSNV	-	3/15
2-200147409-G-A	SATB2	c.1741-10014C>T	-	IntronicSNV	-	11/11
7-99220083-A-C	ZSCAN25	c.590-89A>C	-	IntronicSNV	-	5/7
22-33048216-T-G	SYN3	c.709-55494A>C	-	IntronicSNV	-	6/13
2-136674028-A-G	DARS	c.960-86T>C	-	IntronicSNV	-	10/15
5-170305776-T-C	RANBP17	c.165+529T>C	-	IntronicSNV	-	2/27
6-109877759-T-A	AK9	c.2752-6254A>T	-	IntronicSNV	-	24/40
2-135976498-A-G	ZRANB3	c.2352+149T>C	-	IntronicSNV	-	16/20
2-136455296-A-G	R3HDM1	c.2355-11707A>G	-	IntronicSNV	-	20/25
4-143575740-A-G	INPP4B	c.-290+71252T>C	-	intron_variant	-	2/26
2-135093153-T-C	MGAT5	c.574-635T>C	-	IntronicSNV	-	4/15
4-103497785-G-A	NFKB1	c.408-248G>A	-	IntronicSNV	-	6/23
15-91274575-G-T	BLM	c.-5+13904G>T	-	intron_variant	-	1/21
9-129777653-A-T	RALGPS1	c.217-19057A>T	-	IntronicSNV	-	4/18
7-78839317-C-T	MAGI2	c.302-202795G>A	-	IntronicSNV	-	1/21
1-155059851-A-G	EFNA3	c.*832A>G	-	3-UTRSNV	5/5	-
17-75423198-C-A	SEPT9	c.667+24413C>A	-	IntronicSNV	-	2/10
2-135258363-A-G	TMEM163	c.555+2109T>C	-	IntronicSNV	-	5/7
2-136582694-T-C	LCT	c.805-1121A>G	-	IntronicSNV	-	3/16
15-72873727-T-C	ARIH1	c.1476+395T>C	-	IntronicSNV	-	12/13
11-117619027-C-A	DSCAML1	c.511+28479G>T	-	intron_variant	-	3/32
6-109896308-G-A	AK9	c.2192-1511C>T	-	IntronicSNV	-	20/40
9-129777653-A-G	RALGPS1	c.217-19057A>G	-	IntronicSNV	-	4/18
2-136465856-T-C	R3HDM1	c.2355-1147T>C	-	IntronicSNV	-	20/25
5-115886945-G-A	SEMA6A	c.-39+22936C>T	-	intron_variant	-	1/18
17-75423198-C-T	SEPT9	c.667+24413C>T	-	IntronicSNV	-	2/10
2-135893372-A-G	RAB3GAP1	c.1793A>G	p.Asn598Ser	Missense	17/24	-
2-135893372-A-C	RAB3GAP1	c.1793A>C	p.Asn598Thr	Missense	17/24	-
11-103835243-A-G	PDGFD	c.511-16791T>C	-	IntronicSNV	-	3/6
11-103835243-A-T	PDGFD	c.511-16791T>A	-	IntronicSNV	-	3/6
2-135722328-A-G	MAP3K19	c.*92T>C	-	3-UTRSNV	10/10	-
5-14750823-T-C	ANKH	c.687+355A>G	-	IntronicSNV	-	5/11
5-169282375-C-T	DOCK2	c.2799+14519C>T	-	IntronicSNV	-	27/51
5-169282375-C-G	DOCK2	c.2799+14519C>G	-	IntronicSNV	-	27/51
2-175300997-G-A	GPR155	c.2460C>T	p.Asn820Asn	Synonymous	16/16	-
6-109976134-A-G	AK9	c.759+1825T>C	-	IntronicSNV	-	8/40
2-136423904-C-T	R3HDM1	c.2047+4941C>T	-	IntronicSNV	-	18/25
16-297750-T-C	FAM234A	c.-139-1798T>C	-	intron_variant	-	1/12
3-140696799-C-A	SLC25A36	c.*1504C>A	-	3-UTRSNV	7/7	-
11-8186677-A-G	RIC3	c.124+3736T>C	-	IntronicSNV	-	1/5
17-75427551-T-C	SEPT9	c.667+28766T>C	-	IntronicSNV	-	2/10
7-99435739-A-T	CYP3A43	c.166-561A>T	-	IntronicSNV	-	2/9
7-99435739-A-C	CYP3A43	c.166-561A>C	-	IntronicSNV	-	2/9
7-99435739-A-G	CYP3A43	c.166-561A>G	-	IntronicSNV	-	2/9
5-132013179-C-G	IL4	c.184-2227C>G	-	IntronicSNV	-	2/3
16-53760532-G-A	FTO	c.45+22391G>A	-	IntronicSNV	-	1/8
2-136123848-G-A	ZRANB3	c.181-12650C>T	-	IntronicSNV	-	3/20
19-6392078-A-G	GTF2F1	c.60-93T>C	-	IntronicSNV	-	2/12
2-63474793-T-A	WDPCP	c.1915+11649A>T	-	IntronicSNV	-	14/17
2-63474793-T-C	WDPCP	c.1915+11649A>G	-	IntronicSNV	-	14/17
18-13447995-G-A	LDLRAD4	c.181+9612G>A	-	IntronicSNV	-	3/5
18-6022693-A-C	L3MBTL4	c.1471+24034T>G	-	IntronicSNV	-	17/19
6-33766131-T-C	MLN	c.234+751A>G	-	IntronicSNV	-	3/4
6-109965474-G-A	AK9	c.834+343C>T	-	IntronicSNV	-	9/40
14-61961410-G-T	PRKCH	c.1433+9036G>T	-	IntronicSNV	-	10/13
2-197979685-G-A	ANKRD44	c.907-4117C>T	-	IntronicSNV	-	8/9
6-33740382-G-A	LEMD2	c.*23C>T	-	3-UTRSNV	9/9	-
2-135077185-A-G	MGAT5	c.573+875A>G	-	IntronicSNV	-	4/15
18-66712510-A-G	CCDC102B	c.1435-8757A>G	-	IntronicSNV	-	7/7
1-12305286-G-A	VPS13D	c.447+612G>A	-	IntronicSNV	-	5/69
3-4355483-A-G	SETMAR	c.1020+38A>G	-	IntronicSNV	-	2/2
18-66712510-A-C	CCDC102B	c.1435-8757A>C	-	IntronicSNV	-	7/7
2-136714178-A-G	DARS	c.320+4788T>C	-	IntronicSNV	-	4/15
17-73550047-A-G	LLGL2	c.76-2080A>G	-	IntronicSNV	-	2/24
2-101595235-A-G	NPAS2	c.1482+974A>G	-	IntronicSNV	-	15/20
1-197401180-G-A	CRB1	c.2842+2436G>A	-	IntronicSNV	-	8/11
2-136292425-A-G	R3HDM1	c.-250+3222A>G	-	intron_variant	-	1/25
5-14750251-T-C	ANKH	c.688-836A>G	-	IntronicSNV	-	5/11
2-135291135-C-T	TMEM163	c.458+17006G>A	-	IntronicSNV	-	4/7
22-33050136-G-A	SYN3	c.709-57414C>T	-	IntronicSNV	-	6/13
20-32873447-G-A	AHCY	c.973-7C>T	-	IntronicSNV	-	8/9
2-163137181-A-T	IFIH1	c.1525-559T>A	-	IntronicSNV	-	7/15
5-115166713-C-T	ATG12	c.*788G>A	-	3-UTRSNV	4/4	-
9-34423806-C-T	FAM219A	c.61-17844G>A	-	IntronicSNV	-	1/5
22-35779844-T-A	HMOX1	c.144+625T>A	-	IntronicSNV	-	2/4
2-136472107-A-G	R3HDM1	c.2632-1013A>G	-	IntronicSNV	-	22/25
2-135389197-A-G	TMEM163	c.323-79535T>C	-	IntronicSNV	-	2/7
6-33754396-A-G	LEMD2	c.777+115T>C	-	IntronicSNV	-	2/8
2-135966669-T-G	ZRANB3	c.2496-121A>C	-	IntronicSNV	-	17/20
19-56626448-A-T	ZNF787	c.-11+6093T>A	-	intron_variant	-	1/2
19-56626448-A-C	ZNF787	c.-11+6093T>G	-	intron_variant	-	1/2
2-135165813-T-G	MGAT5	c.1531-4627T>G	-	IntronicSNV	-	11/15
12-54418920-G-A	HOXC4	c.-124+7722G>A	-	intron_variant	-	1/3
1-1198618-T-A	UBE2J2	c.172+108A>T	-	IntronicSNV	-	3/6
2-135129865-T-A	MGAT5	c.1380+9886T>A	-	IntronicSNV	-	10/15
2-136388473-T-C	R3HDM1	c.498-815T>C	-	IntronicSNV	-	7/25
8-16932100-G-A	MICU3	c.568-3192G>A	-	IntronicSNV	-	3/14
12-123049746-G-T	KNTC1	c.1604+2500G>T	-	IntronicSNV	-	20/63
20-18733678-A-G	DTD1	c.*8782A>G	-	IntronicSNV	-	5/5
5-14745268-T-C	ANKH	c.915+711A>G	-	IntronicSNV	-	7/11
2-135984721-G-A	ZRANB3	c.2158+661C>T	-	IntronicSNV	-	14/20
1-185881528-A-G	HMCN1	c.900+616A>G	-	IntronicSNV	-	6/106
11-8088757-C-T	TUB	c.204-22400C>T	-	IntronicSNV	-	2/12
4-148821136-A-T	ARHGAP10	c.1035-6653A>T	-	IntronicSNV	-	10/22
5-115892364-C-A	SEMA6A	c.-39+17517G>T	-	intron_variant	-	1/18
2-136344372-G-C	R3HDM1	c.-249-15698G>C	-	intron_variant	-	1/25
2-136344372-G-A	R3HDM1	c.-249-15698G>A	-	intron_variant	-	1/25
2-136672775-C-G	DARS	c.1107-694G>C	-	IntronicSNV	-	11/15
5-137903084-A-G	HSPA9	c.716+60T>C	-	IntronicSNV	-	7/16
2-136092869-G-T	ZRANB3	c.677+10251C>A	-	IntronicSNV	-	6/20
5-170449872-C-G	RANBP17	c.1710+54491C>G	-	IntronicSNV	-	14/27
11-8088757-C-A	TUB	c.204-22400C>A	-	IntronicSNV	-	2/12
3-185805993-C-T	ETV5	c.233-7029G>A	-	IntronicSNV	-	5/12
3-191981960-A-G	FGF12	c.414+71190T>C	-	IntronicSNV	-	3/4
5-169253781-A-G	DOCK2	c.2704-13980A>G	-	IntronicSNV	-	26/51
5-14747247-C-T	ANKH	c.823-1176G>A	-	IntronicSNV	-	6/11
4-40461712-G-A	RBM47	c.-32+6882C>T	-	intron_variant	-	2/4
2-135243175-T-A	TMEM163	c.555+17297A>T	-	IntronicSNV	-	5/7
2-135347885-T-C	TMEM163	c.323-38223A>G	-	IntronicSNV	-	2/7
4-140643064-A-G	MAML3	c.2417-1587T>C	-	IntronicSNV	-	4/4
2-135781035-C-T	MAP3K19	c.22+1161G>A	-	IntronicSNV	-	1/9
2-136672775-C-T	DARS	c.1107-694G>A	-	IntronicSNV	-	11/15
6-39307514-T-G	KIF6	c.2429-3190A>C	-	IntronicSNV	-	22/22
2-135124303-G-T	MGAT5	c.1380+4324G>T	-	IntronicSNV	-	10/15
5-32133463-G-T	GOLPH3	c.472+2215C>A	-	IntronicSNV	-	3/3
14-21978262-T-C	METTL3	c.100+1004A>G	-	IntronicSNV	-	1/10
12-111502280-C-T	CUX2	c.63+30236C>T	-	IntronicSNV	-	1/21
2-136288403-G-A	ZRANB3	c.-8+294C>T	-	intron_variant	-	1/20
2-136694905-T-C	DARS	c.424-3345A>G	-	IntronicSNV	-	5/15
11-3659993-G-T	ART5	c.851C>A	p.Thr284Lys	Missense	4/4	-
6-35274430-C-T	DEF6	c.97-3017C>T	-	IntronicSNV	-	1/10
11-3659993-G-A	ART5	c.851C>T	p.Thr284Met	Missense	4/4	-
2-135887893-T-C	RAB3GAP1	c.1067-229T>C	-	IntronicSNV	-	12/23
16-76523792-A-C	CNTNAP4	c.2077+12A>C	-	intron_variant	-	14/24
2-135082689-T-C	MGAT5	c.573+6379T>C	-	IntronicSNV	-	4/15
10-102053992-C-A	PKD2L1	c.1659+300G>T	-	IntronicSNV	-	9/15
3-30032530-A-G	RBMS3	c.1126-43A>G	-	IntronicSNV	-	12/13
3-30032530-A-C	RBMS3	c.1126-43A>C	-	IntronicSNV	-	12/13
7-107623496-T-C	LAMB1	c.677-2240A>G	-	IntronicSNV	-	7/33
5-170296592-G-A	RANBP17	c.18+7537G>A	-	IntronicSNV	-	1/27
5-115888195-T-C	SEMA6A	c.-39+21686A>G	-	intron_variant	-	1/18
1-176453688-G-T	PAPPA2	c.-917+21134G>T	-	intron_variant	-	1/22
5-115885672-G-T	SEMA6A	c.-39+24209C>A	-	intron_variant	-	1/18
5-115885672-G-A	SEMA6A	c.-39+24209C>T	-	intron_variant	-	1/18
2-163148072-C-T	IFIH1	c.874+2002G>A	-	IntronicSNV	-	4/15
10-102053992-C-T	PKD2L1	c.1659+300G>A	-	IntronicSNV	-	9/15
1-182798924-G-T	NPL	c.*881G>T	-	3-UTRSNV	13/13	-
6-44228162-G-A	NFKBIE	c.780+26C>T	-	intron_variant	-	4/5
2-163123704-C-T	IFIH1	c.*6G>A	-	3-UTRSNV	16/16	-
2-136157913-T-C	ZRANB3	c.162-9523A>G	-	IntronicSNV	-	2/20
3-182672036-T-C	DCUN1D1	c.521-6616A>G	-	IntronicSNV	-	4/6
2-136221500-C-A	ZRANB3	c.161+40399G>T	-	IntronicSNV	-	2/20
6-109870688-T-C	AK9	c.2964+605A>G	-	IntronicSNV	-	25/40
6-109870688-T-A	AK9	c.2964+605A>T	-	IntronicSNV	-	25/40
9-130064972-G-T	GARNL3	c.220-8943G>T	-	IntronicSNV	-	2/27
17-72673549-G-T	RAB37	c.72+5752G>T	-	IntronicSNV	-	1/8
3-184066615-A-G	CLCN2	c.2365-1806T>C	-	IntronicSNV	-	22/23
6-131991532-G-T	ENPP3	c.563-856G>T	-	IntronicSNV	-	6/24
2-135780168-A-T	MAP3K19	c.23-768T>A	-	IntronicSNV	-	1/9
2-135780168-A-G	MAP3K19	c.23-768T>C	-	IntronicSNV	-	1/9
2-136219831-G-A	ZRANB3	c.161+42068C>T	-	IntronicSNV	-	2/20
9-129984107-G-A	RALGPS1	c.*3059G>A	-	3-UTRSNV	19/19	-
10-45878050-G-A	ALOX5	c.270G>A	p.Thr90Thr	Synonymous	2/14	-
6-109877759-T-C	AK9	c.2752-6254A>G	-	IntronicSNV	-	24/40
11-4098252-G-T	STIM1	c.969+2343G>T	-	IntronicSNV	-	7/11
5-32592736-A-G	SUB1	c.195+945A>G	-	IntronicSNV	-	3/4
2-135289232-G-T	TMEM163	c.458+18909C>A	-	IntronicSNV	-	4/7
1-155059851-A-T	EFNA3	c.*832A>T	-	3-UTRSNV	5/5	-
4-140616874-G-A	MGST2	c.229+453G>A	-	IntronicSNV	-	3/4
14-78298732-C-G	ADCK1	c.219+9871C>G	-	IntronicSNV	-	3/10
14-78298732-C-T	ADCK1	c.219+9871C>T	-	IntronicSNV	-	3/10
5-139060486-G-T	CXXC5	c.378G>T	p.Ala126Ala	Synonymous	2/3	-
20-37232009-A-G	ARHGAP40	c.137+1287A>G	-	IntronicSNV	-	1/14
14-32330260-A-C	NUBPL	c.*1874A>C	-	3-UTRSNV	11/11	-
14-32330260-A-G	NUBPL	c.*1874A>G	-	3-UTRSNV	11/11	-
2-136604210-C-T	MCM6	c.2054-248G>A	-	IntronicSNV	-	14/16
5-170296592-G-T	RANBP17	c.18+7537G>T	-	IntronicSNV	-	1/27
6-109847992-G-A	AK9	c.3633+2222C>T	-	IntronicSNV	-	29/40
18-25576002-C-T	CDH2	c.1021-2401G>A	-	IntronicSNV	-	7/15
4-143575740-A-T	INPP4B	c.-290+71252T>A	-	intron_variant	-	2/26
2-135430621-A-G	TMEM163	c.322+40149T>C	-	IntronicSNV	-	2/7
11-117618713-G-A	DSCAML1	c.511+28793C>T	-	intron_variant	-	3/32
2-136310803-G-C	R3HDM1	c.-250+21600G>C	-	intron_variant	-	1/25
14-51552586-T-C	TRIM9	c.822+8250A>G	-	IntronicSNV	-	1/9
2-136462661-C-T	R3HDM1	c.2355-4342C>T	-	IntronicSNV	-	20/25
2-136226626-C-T	ZRANB3	c.161+35273G>A	-	IntronicSNV	-	2/20
12-56565392-T-G	SMARCC2	c.2185+71A>C	-	IntronicSNV	-	21/29
17-35309848-A-C	AATF	c.284-338A>C	-	IntronicSNV	-	2/11
2-136556480-G-A	LCT	c.4867-772C>T	-	IntronicSNV	-	12/16
18-33721325-C-T	ELP2	c.588+161C>T	-	IntronicSNV	-	6/21
2-135369095-A-G	TMEM163	c.323-59433T>C	-	IntronicSNV	-	2/7
6-132012886-T-G	ENPP3	c.1285-1751T>G	-	IntronicSNV	-	14/24
2-197978625-G-T	ANKRD44	c.907-3057C>A	-	IntronicSNV	-	8/9
22-45398758-G-C	PHF21B	c.120+5668C>G	-	IntronicSNV	-	2/12
7-42084273-T-G	GLI3	c.826+710A>C	-	IntronicSNV	-	6/14
7-42084273-T-A	GLI3	c.826+710A>T	-	IntronicSNV	-	6/14
7-42084273-T-C	GLI3	c.826+710A>G	-	IntronicSNV	-	6/14
2-135167653-T-C	MGAT5	c.1531-2787T>C	-	IntronicSNV	-	11/15
22-45398758-G-A	PHF21B	c.120+5668C>T	-	IntronicSNV	-	2/12
6-33745071-C-T	LEMD2	c.1157-55G>A	-	IntronicSNV	-	6/8
13-110413817-G-A	IRS2	c.4013-5162C>T	-	IntronicSNV	-	1/1
2-136467119-C-T	R3HDM1	c.2458+13C>T	-	IntronicSNV	-	21/25
4-66452949-C-A	EPHA5	c.910+14410G>T	-	IntronicSNV	-	3/17
1-92548348-G-A	BTBD8	c.149+2071G>A	-	IntronicSNV	-	1/8
2-136068890-C-G	ZRANB3	c.966+2169G>C	-	IntronicSNV	-	8/20
2-200142591-T-A	SATB2	c.1741-5196A>T	-	IntronicSNV	-	11/11
6-109910058-A-G	AK9	c.1843-2783T>C	-	IntronicSNV	-	17/40
19-6363493-T-C	CLPP	c.367+940T>C	-	IntronicSNV	-	3/5
2-136335397-A-G	R3HDM1	c.1-27019A>G	-	IntronicSNV	-	1/25
12-54417525-G-A	HOXC4	c.-124+6327G>A	-	intron_variant	-	1/3
20-58305084-C-T	PHACTR3	c.119-13078C>T	-	IntronicSNV	-	1/12
6-109904031-C-A	AK9	c.2114+2295G>T	-	IntronicSNV	-	19/40
4-173739244-C-T	GALNTL6	c.923+4370C>T	-	IntronicSNV	-	7/12
7-139442176-A-G	HIPK2	c.20-25362T>C	-	intron_variant	-	1/14
22-35779635-T-G	HMOX1	c.144+416T>G	-	IntronicSNV	-	2/4
2-200142591-T-C	SATB2	c.1741-5196A>G	-	IntronicSNV	-	11/11
9-129970439-A-C	RALGPS1	c.1248-3971A>C	-	IntronicSNV	-	14/18
9-129970439-A-T	RALGPS1	c.1248-3971A>T	-	IntronicSNV	-	14/18
20-17581431-A-G	DSTN	c.1A>G	p.Met1Val	Missense	-	2/4
2-135395863-T-C	TMEM163	c.322+74907A>G	-	IntronicSNV	-	2/7
12-56629276-A-C	SLC39A5	c.805-68A>C	-	IntronicSNV	-	7/12
11-4098252-G-A	STIM1	c.969+2343G>A	-	IntronicSNV	-	7/11
9-123675133-C-G	TRAF1	c.705+473G>C	-	IntronicSNV	-	5/7
10-45891189-A-G	ALOX5	c.350-114A>G	-	IntronicSNV	-	2/13
5-115887466-G-C	SEMA6A	c.-39+22415C>G	-	intron_variant	-	1/18
4-66494645-A-G	EPHA5	c.246+14436T>C	-	IntronicSNV	-	2/17
12-109569068-A-G	ACACB	c.1-8143A>G	-	IntergenicSNV	-	1/52
2-136511817-A-G	UBXN4	c.303A>G	p.Glu101Glu	Synonymous	4/13	-
5-82998981-A-T	HAPLN1	c.-27+17627T>A	-	intron_variant	-	1/4
4-66494645-A-T	EPHA5	c.246+14436T>A	-	IntronicSNV	-	2/17
10-45799592-A-G	OR13A1	c.279T>C	p.Ser93Ser	Synonymous	4/4	-
2-135693537-C-G	CCNT2	c.241-874C>G	-	IntronicSNV	-	2/8
19-47700860-A-G	SAE1	c.878+226A>G	-	IntronicSNV	-	7/8
11-35969132-C-T	LDLRAD3	c.46+3438C>T	-	IntronicSNV	-	1/5
5-132107051-G-T	SEPT8	c.30+5749C>A	-	IntronicSNV	-	1/9
5-132103271-G-A	SEPT8	c.31-2050C>T	-	IntronicSNV	-	1/9
2-136719173-A-G	DARS	c.218-105T>C	-	IntronicSNV	-	3/15
15-72885874-A-G	ARIH1	c.*10241A>G	-	IntergenicSNV	14/14	-
5-169321575-A-T	DOCK2	c.2799+53719A>T	-	IntronicSNV	-	27/51
2-197976089-G-A	ANKRD44	c.907-521C>T	-	IntronicSNV	-	8/9
12-54418920-G-C	HOXC4	c.-124+7722G>C	-	intron_variant	-	1/3
2-136005971-G-A	ZRANB3	c.1539+17133C>T	-	IntronicSNV	-	12/20
17-27839029-A-G	TAOK1	c.1704+1019A>G	-	IntronicSNV	-	15/19
14-78043929-G-A	SPTLC2	c.483-671C>T	-	IntronicSNV	-	3/11
2-135414882-C-T	TMEM163	c.322+55888G>A	-	IntronicSNV	-	2/7
2-135956095-C-T	ZRANB3	c.*1817G>A	-	IntergenicSNV	21/21	-
2-163137983-T-C	IFIH1	c.1379A>G	p.His460Arg	Missense	7/16	-
5-33646823-A-C	ADAMTS12	c.1479+2104T>G	-	IntronicSNV	-	9/23
12-56565392-T-A	SMARCC2	c.2185+71A>T	-	IntronicSNV	-	21/29
16-31283472-T-C	ITGAM	c.704+159T>C	-	IntronicSNV	-	7/29
9-35369422-A-G	UNC13B	c.1215-893A>G	-	IntronicSNV	-	11/38
2-136575534-T-A	LCT	c.1084A>T	p.Ile362Phe	Missense	6/17	-
2-135436366-A-C	TMEM163	c.322+34404T>G	-	IntronicSNV	-	2/7
2-136005971-G-T	ZRANB3	c.1539+17133C>A	-	IntronicSNV	-	12/20
5-132103271-G-C	SEPT8	c.31-2050C>G	-	IntronicSNV	-	1/9
5-33646823-A-G	ADAMTS12	c.1479+2104T>C	-	IntronicSNV	-	9/23
2-136081193-G-A	ZRANB3	c.678-8093C>T	-	IntronicSNV	-	6/20
22-23618804-G-A	BCR	c.2115+2843G>A	-	IntronicSNV	-	8/22
3-40559078-G-A	ZNF620	c.*724G>A	-	3-UTRSNV	5/5	-
3-40559078-G-C	ZNF620	c.*724G>C	-	3-UTRSNV	5/5	-
17-70692820-A-C	SLC39A11	c.692+39969T>G	-	IntronicSNV	-	7/9
5-32128179-A-G	GOLPH3	c.473-1437T>C	-	IntronicSNV	-	3/3
2-136219999-C-T	ZRANB3	c.161+41900G>A	-	IntronicSNV	-	2/20
5-137872056-A-G	ETF1	c.86+6466T>C	-	IntronicSNV	-	2/10
2-136072179-G-A	ZRANB3	c.849+750C>T	-	IntronicSNV	-	7/20
2-135454032-T-A	TMEM163	c.322+16738A>T	-	IntronicSNV	-	2/7
2-136561557-G-A	LCT	c.4606C>T	p.Leu1536Leu	Synonymous	11/17	-
5-115167896-T-C	ATG12	c.364-336A>G	-	IntronicSNV	-	3/3
5-115167896-T-A	ATG12	c.364-336A>T	-	IntronicSNV	-	3/3
2-135736138-C-G	MAP3K19	c.3920+2253G>C	-	IntronicSNV	-	9/9
20-7905947-T-C	HAO1	c.289+9184A>G	-	IntronicSNV	-	2/7
20-7905947-T-A	HAO1	c.289+9184A>T	-	IntronicSNV	-	2/7
17-72687624-T-C	RAB37	c.72+19827T>C	-	IntronicSNV	-	1/8
7-42071698-T-C	GLI3	c.1029-5687A>G	-	IntronicSNV	-	7/14
5-14743455-G-T	ANKH	c.916-1424C>A	-	IntronicSNV	-	7/11
2-135839805-C-T	RAB3GAP1	c.151-8763C>T	-	IntronicSNV	-	3/23
1-151699473-T-C	RIIAD1	c.162-578T>C	-	IntronicSNV	-	2/4
2-135439189-A-G	TMEM163	c.322+31581T>C	-	IntronicSNV	-	2/7
4-78530068-A-G	CXCL13	c.197+1079A>G	-	IntronicSNV	-	3/4
5-132111043-G-A	SEPT8	c.30+1757C>T	-	IntronicSNV	-	1/9
1-198692364-T-C	PTPRC	c.1720+759T>C	-	IntronicSNV	-	15/32
5-115885858-C-T	SEMA6A	c.-39+24023G>A	-	intron_variant	-	1/18
12-102006992-C-T	MYBPC1	c.26-1282C>T	-	IntronicSNV	-	1/29
12-45100151-G-A	NELL2	c.1190-2514C>T	-	IntronicSNV	-	12/20
1-240742905-G-T	GREM2	c.-2+32279C>A	-	intron_variant	-	1/1
22-33258015-T-C	TIMP3	c.*2651T>C	-	3-UTRSNV	5/5	-
4-159464732-A-G	RXFP1	c.49+21555A>G	-	IntronicSNV	-	1/17
22-34178537-T-A	LARGE1	c.1-21074A>T	-	IntronicSNV	-	1/14
22-34178537-T-C	LARGE1	c.1-21074A>G	-	IntronicSNV	-	1/14
2-135736138-C-T	MAP3K19	c.3920+2253G>A	-	IntronicSNV	-	9/9
2-135967575-G-A	ZRANB3	c.2496-1027C>T	-	IntronicSNV	-	17/20
12-56603834-G-C	RNF41	c.362+247C>G	-	IntronicSNV	-	4/6
2-136396300-T-C	R3HDM1	c.942-9T>C	-	IntronicSNV	-	12/25
7-99436198-G-A	CYP3A43	c.166-102G>A	-	IntronicSNV	-	2/9
2-135357203-G-C	TMEM163	c.323-47541C>G	-	IntronicSNV	-	2/7
6-51732598-G-A	PKHD1	c.7733+63C>T	-	IntronicSNV	-	48/66
5-14741603-G-A	ANKH	c.1011+333C>T	-	IntronicSNV	-	8/11
12-71526414-T-C	TSPAN8	c.576+59A>G	-	IntronicSNV	-	7/8
12-79299323-C-T	SYT1	c.-217+40434C>T	-	intron_variant	-	1/10
2-135117507-T-C	MGAT5	c.1247-2339T>C	-	IntronicSNV	-	9/15
12-56726518-G-A	PAN2	c.282+79C>T	-	IntronicSNV	-	2/25
12-56726518-G-C	PAN2	c.282+79C>G	-	IntronicSNV	-	2/25
2-135927428-T-C	RAB3GAP1	c.*1077T>C	-	3-UTRSNV	24/24	-
11-21537221-C-T	NELL1	c.1646-18699C>T	-	IntronicSNV	-	15/19
22-32828343-T-C	BPIFC	c.1149+17A>G	-	IntronicSNV	-	10/14
22-32828343-T-G	BPIFC	c.1149+17A>C	-	IntronicSNV	-	10/14
2-136151774-C-T	ZRANB3	c.162-3384G>A	-	IntronicSNV	-	2/20
7-42072584-C-T	GLI3	c.1029-6573G>A	-	IntronicSNV	-	7/14
2-135386581-C-T	TMEM163	c.323-76919G>A	-	IntronicSNV	-	2/7
1-9068386-G-A	SLC2A7	c.1117-942C>T	-	IntronicSNV	-	9/11
5-132033612-C-T	KIF3A	c.2052-1238G>A	-	IntronicSNV	-	16/16
2-136721995-T-C	DARS	c.218-2927A>G	-	IntronicSNV	-	3/15
2-135762429-C-G	MAP3K19	c.235+576G>C	-	IntronicSNV	-	3/9
4-42490680-A-C	ATP8A1	c.2152-2995T>G	-	IntronicSNV	-	24/36
6-137059166-T-C	MAP3K5	c.449-17439A>G	-	IntronicSNV	-	1/29
12-54420098-C-T	HOXC4	c.-124+8900C>T	-	intron_variant	-	1/3
2-136688749-G-A	DARS	c.564+1604C>T	-	IntronicSNV	-	7/15
6-35357974-A-G	PPARD	c.1-20891A>G	-	IntronicSNV	-	2/7
5-132093649-T-C	SEPT8	c.1286+2845A>G	-	IntronicSNV	-	9/9
2-135454032-T-C	TMEM163	c.322+16738A>G	-	IntronicSNV	-	2/7
1-161975975-G-A	OLFML2B	c.723+112C>T	-	IntronicSNV	-	4/7
2-135714156-G-A	CCNT2	c.*1938G>A	-	3-UTRSNV	9/9	-
9-123675133-C-T	TRAF1	c.705+473G>A	-	IntronicSNV	-	5/7
3-10526523-C-G	ATP2B2	c.-320+20626G>C	-	intron_variant	-	1/19
2-135962711-T-C	ZRANB3	c.3010-2178A>G	-	IntronicSNV	-	19/20
2-136361560-A-G	R3HDM1	c.1-856A>G	-	IntronicSNV	-	2/25
10-50339278-A-G	FAM170B	c.*380T>C	-	3-UTRSNV	2/2	-
2-88423510-A-T	FABP1	c.333+503T>A	-	IntronicSNV	-	3/3
7-42078947-A-C	GLI3	c.1028+690T>G	-	IntronicSNV	-	7/14
7-42078947-A-G	GLI3	c.1028+690T>C	-	IntronicSNV	-	7/14
2-136107839-G-A	ZRANB3	c.360-54C>T	-	IntronicSNV	-	4/20
2-136107286-T-C	ZRANB3	c.591+268A>G	-	IntronicSNV	-	5/20
10-50339278-A-T	FAM170B	c.*380T>A	-	3-UTRSNV	2/2	-
17-19287476-T-G	MFAP4	c.*299A>C	-	3-UTRSNV	6/6	-
4-39586775-T-A	SMIM14	c.76-12692A>T	-	IntronicSNV	-	2/4
2-101594858-T-C	NPAS2	c.1482+597T>C	-	IntronicSNV	-	15/20
4-126262415-A-G	FAT4	c.5175+19674A>G	-	IntronicSNV	-	1/16
2-136506927-A-C	UBXN4	c.185+988A>C	-	IntronicSNV	-	2/12
5-169284171-T-C	DOCK2	c.2799+16315T>C	-	IntronicSNV	-	27/51
21-16413658-G-C	NRIP1	c.-458+2158C>G	-	intron_variant	-	2/3
6-109853446-A-G	AK9	c.3570+1008T>C	-	IntronicSNV	-	28/40
6-109853446-A-T	AK9	c.3570+1008T>A	-	IntronicSNV	-	28/40
3-191929784-C-T	FGF12	c.415-41339G>A	-	IntronicSNV	-	3/4
12-71532099-G-A	TSPAN8	c.262-89C>T	-	IntronicSNV	-	4/8
2-136228887-C-T	ZRANB3	c.161+33012G>A	-	IntronicSNV	-	2/20
2-135203537-A-G	MGAT5	c.2028-2683A>G	-	IntronicSNV	-	15/15
10-626782-G-T	DIP2C	c.86-94312C>A	-	IntronicSNV	-	1/36
2-135878814-G-A	RAB3GAP1	c.748+326G>A	-	IntronicSNV	-	8/23
2-136151412-C-T	ZRANB3	c.162-3022G>A	-	IntronicSNV	-	2/20
2-135872646-C-A	RAB3GAP1	c.483-140C>A	-	IntronicSNV	-	6/23
10-626782-G-A	DIP2C	c.86-94312C>T	-	IntronicSNV	-	1/36
10-626782-G-C	DIP2C	c.86-94312C>G	-	IntronicSNV	-	1/36
5-169294776-C-A	DOCK2	c.2799+26920C>A	-	IntronicSNV	-	27/51
16-13316427-G-A	SHISA9	c.895+9270G>A	-	IntronicSNV	-	4/4
3-156048473-G-A	KCNAB1	c.243-90932G>A	-	IntronicSNV	-	1/13
2-197122493-T-G	HECW2	c.3419+54A>C	-	IntronicSNV	-	18/28
10-542167-G-T	DIP2C	c.86-9697C>A	-	IntronicSNV	-	1/36
2-136236631-A-G	ZRANB3	c.161+25268T>C	-	IntronicSNV	-	2/20
2-136197702-T-C	ZRANB3	c.162-49312A>G	-	IntronicSNV	-	2/20
4-173103821-T-G	GALNTL6	c.139-46986T>G	-	IntronicSNV	-	2/12
2-136702601-G-A	DARS	c.321-1551C>T	-	IntronicSNV	-	4/15
14-81570150-T-C	TSHR	c.615-4569T>C	-	IntronicSNV	-	7/9
2-175292364-T-C	SCRN3	c.1093-77T>C	-	IntronicSNV	-	7/7
2-203067503-A-G	KIAA2012	c.*20+193A>G	-	intron_variant	-	23/23
2-135963304-T-G	ZRANB3	c.3009+1700A>C	-	IntronicSNV	-	19/20
2-135963304-T-A	ZRANB3	c.3009+1700A>T	-	IntronicSNV	-	19/20
2-136089758-T-G	ZRANB3	c.677+13362A>C	-	IntronicSNV	-	6/20
2-136089758-T-C	ZRANB3	c.677+13362A>G	-	IntronicSNV	-	6/20
2-136324225-A-G	R3HDM1	c.-250+35022A>G	-	intron_variant	-	1/25
5-179580169-T-C	RASGEF1C	c.1-15117A>G	-	IntronicSNV	-	1/13
20-37447919-A-T	PPP1R16B	c.-102+13484A>T	-	intron_variant	-	1/10
20-37447919-A-G	PPP1R16B	c.-102+13484A>G	-	intron_variant	-	1/10
3-186260740-A-G	CRYGS	c.21+1355T>C	-	IntronicSNV	-	1/2
2-135814716-C-T	RAB3GAP1	c.75-865C>T	-	IntronicSNV	-	2/23
2-136552188-G-A	LCT	c.5111+23C>T	-	IntronicSNV	-	14/16
5-169294776-C-G	DOCK2	c.2799+26920C>G	-	IntronicSNV	-	27/51
2-135826575-C-T	RAB3GAP1	c.150+10919C>T	-	IntronicSNV	-	3/23
2-136589278-G-A	LCT	c.720+1403C>T	-	IntronicSNV	-	2/16
16-75364940-C-T	CFDP1	c.651-25860G>A	-	IntronicSNV	-	5/6
14-51552126-G-A	TRIM9	c.822+8710C>T	-	IntronicSNV	-	1/9
17-75428021-T-A	SEPT9	c.667+29236T>A	-	IntronicSNV	-	2/10
20-56137687-A-C	PCK1	c.407-65A>C	-	IntronicSNV	-	3/9
2-135219050-T-C	TMEM163	c.668-3306A>G	-	IntronicSNV	-	6/7
17-75428021-T-C	SEPT9	c.667+29236T>C	-	IntronicSNV	-	2/10
5-115885574-C-G	SEMA6A	c.-39+24307G>C	-	intron_variant	-	1/18
2-135058615-C-G	MGAT5	c.407-16485C>G	-	IntronicSNV	-	2/15
5-115885574-C-A	SEMA6A	c.-39+24307G>T	-	intron_variant	-	1/18
5-32592961-G-C	SUB1	c.195+1170G>C	-	IntronicSNV	-	3/4
5-32592961-G-A	SUB1	c.195+1170G>A	-	IntronicSNV	-	3/4
2-116273665-G-A	DPP10	c.367-9809G>A	-	IntronicSNV	-	4/25
2-135236250-T-C	TMEM163	c.556-12454A>G	-	IntronicSNV	-	5/7
6-33749978-T-C	LEMD2	c.854-1048A>G	-	IntronicSNV	-	3/8
2-136667896-C-T	DARS	c.1414+813G>A	-	IntronicSNV	-	15/15
4-148799672-T-C	ARHGAP10	c.833-711T>C	-	IntronicSNV	-	8/22
22-23625330-G-A	BCR	c.2116-834G>A	-	IntronicSNV	-	8/22
8-141541888-C-T	AGO2	c.*255G>A	-	3-UTRSNV	19/19	-
2-135762344-C-T	MAP3K19	c.235+661G>A	-	IntronicSNV	-	3/9
1-103400314-T-C	COL11A1	c.3145-202A>G	-	IntronicSNV	-	43/64
17-78519122-C-T	RPTOR	c.1-308C>T	-	5-UTRSNV	1/34	-
9-35362483-G-A	UNC13B	c.1168-4461G>A	-	IntronicSNV	-	10/38
2-136146369-G-A	ZRANB3	c.180+2003C>T	-	IntronicSNV	-	3/20
2-135080945-T-C	MGAT5	c.573+4635T>C	-	IntronicSNV	-	4/15
2-135080945-T-A	MGAT5	c.573+4635T>A	-	IntronicSNV	-	4/15
2-115946323-A-G	DPP10	c.61-120492A>G	-	IntronicSNV	-	1/25
12-56603765-C-T	RNF41	c.362+316G>A	-	IntronicSNV	-	4/6
2-135419163-A-G	TMEM163	c.322+51607T>C	-	IntronicSNV	-	2/7
7-42088222-T-C	GLI3	c.547A>G	p.Thr183Ala	Missense	5/15	-
12-66245568-C-T	HMGA2	c.249+13219C>T	-	IntronicSNV	-	3/4
2-136094478-C-T	ZRANB3	c.677+8642G>A	-	IntronicSNV	-	6/20
6-33037675-C-A	HLA-DPA1	c.101-12G>T	-	IntronicSNV	-	1/4
1-182777405-A-G	NPL	c.230+2038A>G	-	IntronicSNV	-	5/12
2-133869768-T-C	NCKAP5	c.341+17782A>G	-	IntronicSNV	-	6/17
2-135129865-T-C	MGAT5	c.1380+9886T>C	-	IntronicSNV	-	10/15
7-47317046-C-T	TNS3	c.*628G>A	-	3-UTRSNV	31/31	-
2-136586183-C-T	LCT	c.804+980G>A	-	IntronicSNV	-	3/16
2-135204008-A-G	MGAT5	c.2028-2212A>G	-	IntronicSNV	-	15/15
6-132011994-T-A	ENPP3	c.1285-2643T>A	-	IntronicSNV	-	14/24
2-136159291-T-C	ZRANB3	c.162-10901A>G	-	IntronicSNV	-	2/20
2-135127910-G-A	MGAT5	c.1380+7931G>A	-	IntronicSNV	-	10/15
6-137063271-T-C	MAP3K5	c.449-21544A>G	-	IntronicSNV	-	1/29
2-135362981-A-G	TMEM163	c.323-53319T>C	-	IntronicSNV	-	2/7
6-109870377-A-C	AK9	c.2964+916T>G	-	IntronicSNV	-	25/40
7-100377082-T-C	ZAN	c.6329T>C	-	missense_variant	36/49	-
3-191939916-G-A	FGF12	c.415-51471C>T	-	IntronicSNV	-	3/4
2-135909462-G-A	RAB3GAP1	c.2061+1386G>A	-	IntronicSNV	-	18/23
20-8402859-A-G	PLCB1	c.246+50762A>G	-	IntronicSNV	-	3/31
20-17578239-C-T	DSTN	c.1-3192C>T	-	IntronicSNV	-	2/4
5-169325594-G-A	DOCK2	c.2799+57738G>A	-	IntronicSNV	-	27/51
2-136081193-G-T	ZRANB3	c.678-8093C>A	-	IntronicSNV	-	6/20
9-130303385-G-A	FAM129B	c.56-9328C>T	-	IntronicSNV	-	1/13
9-130303385-G-C	FAM129B	c.56-9328C>G	-	IntronicSNV	-	1/13
1-74807337-C-A	FPGT-TNNI3K	c.1025-1189C>A	-	IntronicSNV	-	9/26
7-43158219-A-C	HECW1	c.-32+4229A>C	-	intron_variant	-	2/29
14-78060031-C-T	SPTLC2	c.327+3498G>A	-	IntronicSNV	-	2/11
2-175300997-G-C	GPR155	c.2460C>G	p.Asn820Lys	Missense	16/16	-
18-6023632-A-G	L3MBTL4	c.1471+23095T>C	-	IntronicSNV	-	17/19
2-135289232-G-C	TMEM163	c.458+18909C>G	-	IntronicSNV	-	4/7
15-28415850-C-A	HERC2	c.10058-1049G>T	-	IntronicSNV	-	65/92
15-28415850-C-T	HERC2	c.10058-1049G>A	-	IntronicSNV	-	65/92
7-42045301-G-A	GLI3	c.1497+17766C>T	-	IntronicSNV	-	10/14
2-135825074-T-C	RAB3GAP1	c.150+9418T>C	-	IntronicSNV	-	3/23
22-33258015-T-G	TIMP3	c.*2651T>G	-	3-UTRSNV	5/5	-
2-135816439-A-G	RAB3GAP1	c.150+783A>G	-	IntronicSNV	-	3/23
6-109954252-C-T	AK9	c.1128G>A	p.Leu376Leu	Synonymous	12/41	-
10-24593076-A-C	KIAA1217	c.355-76722A>C	-	IntronicSNV	-	2/20
10-24593076-A-T	KIAA1217	c.355-76722A>T	-	IntronicSNV	-	2/20
2-136720176-A-C	DARS	c.218-1108T>G	-	IntronicSNV	-	3/15
1-53260123-A-G	ZYG11B	c.1335-1841A>G	-	IntronicSNV	-	6/13
2-73651967-C-A	ALMS1	c.1177C>A	-	missense_variant	5/23	-
2-73651967-C-T	ALMS1	c.1177C>T	-	missense_variant	5/23	-
2-135691725-A-G	CCNT2	c.241-2686A>G	-	IntronicSNV	-	2/8
10-49719154-C-T	ARHGAP22	c.323-31347G>A	-	IntronicSNV	-	3/9
3-191989376-C-T	FGF12	c.414+63774G>A	-	IntronicSNV	-	3/4
15-48043458-T-C	SEMA6D	c.1-8538T>C	-	IntronicSNV	-	1/12
2-136069060-C-T	ZRANB3	c.966+1999G>A	-	IntronicSNV	-	8/20
6-151223680-G-A	MTHFD1L	c.781-3106G>A	-	IntronicSNV	-	7/27
5-169309080-C-T	DOCK2	c.2799+41224C>T	-	IntronicSNV	-	27/51
2-136293257-G-A	R3HDM1	c.-250+4054G>A	-	intron_variant	-	1/25
2-136069060-C-A	ZRANB3	c.966+1999G>T	-	IntronicSNV	-	8/20
5-14750800-G-A	ANKH	c.687+378C>T	-	IntronicSNV	-	5/11
2-136187252-T-A	ZRANB3	c.162-38862A>T	-	IntronicSNV	-	2/20
2-136187252-T-C	ZRANB3	c.162-38862A>G	-	IntronicSNV	-	2/20
7-42038184-A-G	GLI3	c.1498-19837T>C	-	IntronicSNV	-	10/14
2-136038353-C-T	ZRANB3	c.967-5028G>A	-	IntronicSNV	-	8/20
5-115859730-A-T	SEMA6A	c.1-19090T>A	-	IntronicSNV	-	1/18
2-135471748-T-C	TMEM163	c.203-859A>G	-	IntronicSNV	-	1/7
2-135850778-C-T	RAB3GAP1	c.284-407C>T	-	IntronicSNV	-	4/23
2-135361035-G-A	TMEM163	c.323-51373C>T	-	IntronicSNV	-	2/7
7-42090528-C-A	GLI3	c.474-2233G>T	-	IntronicSNV	-	4/14
7-42090528-C-T	GLI3	c.474-2233G>A	-	IntronicSNV	-	4/14
5-139060486-G-A	CXXC5	c.378G>A	p.Ala126Ala	Synonymous	2/3	-
8-39088049-T-C	ADAM32	c.1526-1497T>C	-	IntronicSNV	-	14/24
9-129783116-T-C	RALGPS1	c.217-13594T>C	-	IntronicSNV	-	4/18
5-169290353-G-A	DOCK2	c.2799+22497G>A	-	IntronicSNV	-	27/51
11-117618713-G-T	DSCAML1	c.511+28793C>A	-	intron_variant	-	3/32
1-218495048-C-T	RRP15	c.706-9242C>T	-	IntronicSNV	-	4/4
2-135096302-C-T	MGAT5	c.807+311C>T	-	IntronicSNV	-	6/15
10-135221772-G-T	MTG1	c.752+5495G>T	-	IntronicSNV	-	9/10
10-135221772-G-A	MTG1	c.752+5495G>A	-	IntronicSNV	-	9/10
5-169321575-A-G	DOCK2	c.2799+53719A>G	-	IntronicSNV	-	27/51
2-136539513-G-A	UBXN4	c.1389-806G>A	-	IntronicSNV	-	12/12
2-136539513-G-C	UBXN4	c.1389-806G>C	-	IntronicSNV	-	12/12
2-136603276-T-C	MCM6	c.2209+531A>G	-	IntronicSNV	-	15/16
5-137892170-G-A	HSPA9	c.1933C>T	p.Leu645Leu	Synonymous	16/17	-
3-4849222-G-A	ITPR1	c.7083+1271G>A	-	IntronicSNV	-	51/57
2-115946323-A-T	DPP10	c.61-120492A>T	-	IntronicSNV	-	1/25
2-135204008-A-C	MGAT5	c.2028-2212A>C	-	IntronicSNV	-	15/15
2-136575199-G-T	LCT	c.1419C>A	p.Gly473Gly	Synonymous	6/17	-
2-136575199-G-A	LCT	c.1419C>T	p.Gly473Gly	Synonymous	6/17	-
2-135419163-A-T	TMEM163	c.322+51607T>A	-	IntronicSNV	-	2/7
2-205994800-T-C	PARD3B	c.1434+4339T>C	-	IntronicSNV	-	10/21
4-148832250-C-T	ARHGAP10	c.1162+1322C>T	-	IntronicSNV	-	12/22
4-140614711-G-A	MGST2	c.159-1640G>A	-	IntronicSNV	-	2/4
8-141541288-C-T	AGO2	c.*855G>A	-	3-UTRSNV	19/19	-
8-73795460-A-G	KCNB2	c.580-52710A>G	-	IntronicSNV	-	2/2
2-135077707-G-T	MGAT5	c.573+1397G>T	-	IntronicSNV	-	4/15
2-136715324-T-G	DARS	c.320+3642A>C	-	IntronicSNV	-	4/15
2-136715324-T-C	DARS	c.320+3642A>G	-	IntronicSNV	-	4/15
2-135430709-G-A	TMEM163	c.322+40061C>T	-	IntronicSNV	-	2/7
20-939161-A-G	RSPO4	c.*1839T>C	-	3-UTRSNV	5/5	-
3-4849222-G-C	ITPR1	c.7083+1271G>C	-	IntronicSNV	-	51/57
12-56722830-C-T	PAN2	c.283-405G>A	-	IntronicSNV	-	2/25
2-136229598-G-T	ZRANB3	c.161+32301C>A	-	IntronicSNV	-	2/20
2-136229598-G-A	ZRANB3	c.161+32301C>T	-	IntronicSNV	-	2/20
2-175297360-G-A	GPR155	c.*3484C>T	-	3-UTRSNV	16/16	-
11-62269774-G-A	AHNAK	c.343-10471C>T	-	IntronicSNV	-	4/5
2-136616754-C-T	MCM6	c.1362+117G>A	-	IntronicSNV	-	9/16
2-135426782-A-T	TMEM163	c.322+43988T>A	-	IntronicSNV	-	2/7
2-15627561-C-T	NBAS	c.1083+1457G>A	-	IntronicSNV	-	12/51
4-140800045-G-A	MAML3	c.2079+10466C>T	-	IntronicSNV	-	2/4
2-136100243-G-T	ZRANB3	c.677+2877C>A	-	IntronicSNV	-	6/20
15-42528676-C-T	TMEM87A	c.869-59G>A	-	IntronicSNV	-	9/19
15-42528676-C-G	TMEM87A	c.869-59G>C	-	IntronicSNV	-	9/19
15-42528676-C-A	TMEM87A	c.869-59G>T	-	IntronicSNV	-	9/19
5-14693030-A-G	OTULIN	c.932A>G	p.Asn311Ser	Missense	7/7	-
2-9659610-T-A	ADAM17	c.958-1234A>T	-	IntronicSNV	-	8/18
16-75360734-C-T	CFDP1	c.651-21654G>A	-	IntronicSNV	-	5/6
4-173723986-C-T	GALNTL6	c.554-6526C>T	-	IntronicSNV	-	5/12
18-25576002-C-G	CDH2	c.1021-2401G>C	-	IntronicSNV	-	7/15
4-89319296-T-C	HERC6	c.1027T>C	p.Phe343Leu	Missense	8/22	-
4-89319296-T-G	HERC6	c.1027T>G	p.Phe343Val	Missense	8/22	-
2-163143424-T-C	IFIH1	c.1095+1221A>G	-	IntronicSNV	-	5/15
8-10548858-T-G	C8orf74	c.242-6251T>G	-	IntronicSNV	-	2/3
4-31123849-G-A	PCDH7	c.3368-20246G>A	-	IntronicSNV	-	2/2
13-28614361-G-T	FLT3	c.1206-2936C>A	-	IntronicSNV	-	9/23
13-28614361-G-A	FLT3	c.1206-2936C>T	-	IntronicSNV	-	9/23
7-78777397-T-C	MAGI2	c.302-140875A>G	-	IntronicSNV	-	1/21
2-163129208-C-T	IFIH1	c.2455-311G>A	-	IntronicSNV	-	12/15
2-136590746-C-G	LCT	c.655G>C	p.Val219Leu	Missense	2/17	-
7-99355975-T-C	CYP3A4	c.1414-124A>G	-	IntronicSNV	-	12/12
22-33048925-C-A	SYN3	c.709-56203G>T	-	IntronicSNV	-	6/13
2-136420690-A-G	R3HDM1	c.2047+1727A>G	-	IntronicSNV	-	18/25
11-92705844-T-G	MTNR1B	c.223+2730T>G	-	IntronicSNV	-	1/1
5-131994669-C-T	IL13	c.175-441C>T	-	IntronicSNV	-	1/3
2-136608643-G-C	MCM6	c.1917+329C>G	-	IntronicSNV	-	13/16
2-136420690-A-T	R3HDM1	c.2047+1727A>T	-	IntronicSNV	-	18/25
2-136555659-T-C	LCT	c.4916A>G	p.Asn1639Ser	Missense	13/17	-
11-117610387-G-A	DSCAML1	c.511+37119C>T	-	intron_variant	-	3/32
2-135902172-C-A	RAB3GAP1	c.1924-5767C>A	-	IntronicSNV	-	17/23
2-135902172-C-T	RAB3GAP1	c.1924-5767C>T	-	IntronicSNV	-	17/23
6-32976927-A-G	HLA-DOA	c.82+305T>C	-	IntronicSNV	-	1/4
2-136366433-A-G	R3HDM1	c.171+3847A>G	-	IntronicSNV	-	3/25
2-136285317-T-G	ZRANB3	c.-8+3380A>C	-	intron_variant	-	1/20
2-136169799-T-C	ZRANB3	c.162-21409A>G	-	IntronicSNV	-	2/20
2-136169799-T-A	ZRANB3	c.162-21409A>T	-	IntronicSNV	-	2/20
12-130187283-T-C	TMEM132D	c.80-2040A>G	-	IntronicSNV	-	1/8
3-194152728-G-C	ATP13A3	c.2246-107C>G	-	IntronicSNV	-	20/31
7-99325882-C-T	CYP3A7	c.165+2800G>A	-	IntronicSNV	-	2/12
3-194152728-G-A	ATP13A3	c.2246-107C>T	-	IntronicSNV	-	20/31
2-136147948-G-C	ZRANB3	c.180+424C>G	-	IntronicSNV	-	3/20
2-136571982-T-C	LCT	c.1708-1456A>G	-	IntronicSNV	-	6/16
9-130147606-G-A	GARNL3	c.2388+182G>A	-	IntronicSNV	-	24/27
2-136571982-T-A	LCT	c.1708-1456A>T	-	IntronicSNV	-	6/16
2-136516970-G-A	UBXN4	c.509-2418G>A	-	IntronicSNV	-	5/12
2-135907088-A-G	RAB3GAP1	c.1924-851A>G	-	IntronicSNV	-	17/23
3-111502126-C-T	PLCXD2	c.867-62542C>T	-	IntronicSNV	-	3/3
7-42072483-G-A	GLI3	c.1029-6472C>T	-	IntronicSNV	-	7/14
1-240076608-A-G	CHRM3	c.*4084A>G	-	IntergenicSNV	5/5	-
2-136337874-C-T	R3HDM1	c.-249-22196C>T	-	intron_variant	-	1/25
11-117620420-T-C	DSCAML1	c.511+27086A>G	-	intron_variant	-	3/32
6-76572668-A-G	MYO6	c.1674+228A>G	-	IntronicSNV	-	16/34
17-19288274-T-G	MFAP4	c.520+138A>C	-	IntronicSNV	-	5/5
9-129979758-G-A	RALGPS1	c.1645-1261G>A	-	IntronicSNV	-	18/18
1-240076608-A-T	CHRM3	c.*4084A>T	-	IntergenicSNV	5/5	-
2-203425475-C-T	BMPR2	c.*806C>T	-	3-UTRSNV	13/13	-
6-51738982-G-A	PKHD1	c.7351-3545C>T	-	IntronicSNV	-	46/66
2-205997457-A-G	PARD3B	c.1434+6996A>G	-	IntronicSNV	-	10/21
7-99053816-G-A	CPSF4	c.667-239G>A	-	IntronicSNV	-	7/7
7-42066881-A-G	GLI3	c.1029-870T>C	-	IntronicSNV	-	7/14
2-136561735-G-A	LCT	c.4465-37C>T	-	IntronicSNV	-	10/16
3-191966701-C-T	FGF12	c.415-78256G>A	-	IntronicSNV	-	3/4
18-57358629-A-T	CCBE1	c.212+5232T>A	-	IntronicSNV	-	2/10
2-136247946-A-G	ZRANB3	c.161+13953T>C	-	IntronicSNV	-	2/20
2-135885357-C-T	RAB3GAP1	c.973+1131C>T	-	IntronicSNV	-	11/23
5-169262575-A-G	DOCK2	c.2704-5186A>G	-	IntronicSNV	-	26/51
2-169821098-A-G	ABCB11	c.2076-280T>C	-	IntronicSNV	-	17/27
1-74842787-G-A	FPGT-TNNI3K	c.2114+6711G>A	-	IntronicSNV	-	19/26
2-200154449-G-A	SATB2	c.1741-17054C>T	-	IntronicSNV	-	11/11
2-200154449-G-C	SATB2	c.1741-17054C>G	-	IntronicSNV	-	11/11
2-198001443-C-T	ANKRD44	c.191-57G>A	-	IntronicSNV	-	3/9
11-128585924-G-A	FLI1	c.18+21753G>A	-	IntronicSNV	-	1/8
1-53234874-A-G	ZYG11B	c.197-1818A>G	-	IntronicSNV	-	2/13
12-130193038-C-T	TMEM132D	c.80-7795G>A	-	IntronicSNV	-	1/8
3-191945126-G-T	FGF12	c.415-56681C>A	-	IntronicSNV	-	3/4
3-191945126-G-A	FGF12	c.415-56681C>T	-	IntronicSNV	-	3/4
1-12306734-T-G	VPS13D	c.447+2060T>G	-	IntronicSNV	-	5/69
5-32588433-C-T	SUB1	c.1-186C>T	-	IntronicSNV	-	1/4
6-33710038-T-C	IP6K3	c.-180+4497A>G	-	intron_variant	-	1/5
4-148827747-A-G	ARHGAP10	c.1035-42A>G	-	IntronicSNV	-	10/22
4-148827747-A-C	ARHGAP10	c.1035-42A>C	-	IntronicSNV	-	10/22
4-148827747-A-T	ARHGAP10	c.1035-42A>T	-	IntronicSNV	-	10/22
3-111428766-A-G	PLCXD2	c.624+1533A>G	-	IntronicSNV	-	2/3
2-136406109-T-C	R3HDM1	c.1623+3012T>C	-	IntronicSNV	-	16/25
2-135818907-C-T	RAB3GAP1	c.150+3251C>T	-	IntronicSNV	-	3/23
2-136608651-A-G	MCM6	c.1917+321T>C	-	IntronicSNV	-	13/16
2-135981554-A-G	ZRANB3	c.2250+442T>C	-	IntronicSNV	-	15/20
2-135691659-A-C	CCNT2	c.241-2752A>C	-	IntronicSNV	-	2/8
2-135691659-A-G	CCNT2	c.241-2752A>G	-	IntronicSNV	-	2/8
5-170401291-T-A	RANBP17	c.1710+5910T>A	-	IntronicSNV	-	14/27
2-135829309-G-A	RAB3GAP1	c.150+13653G>A	-	IntronicSNV	-	3/23
12-65759885-C-A	MSRB3	c.285-2893C>A	-	IntronicSNV	-	3/5
13-110419404-C-T	IRS2	c.4013-10749G>A	-	IntronicSNV	-	1/1
2-122273073-G-A	CLASP1	c.644+168C>T	-	IntronicSNV	-	7/39
1-176453688-G-A	PAPPA2	c.-917+21134G>A	-	intron_variant	-	1/22
5-115891789-T-C	SEMA6A	c.-39+18092A>G	-	intron_variant	-	1/18
5-115891789-T-A	SEMA6A	c.-39+18092A>T	-	intron_variant	-	1/18
14-78043929-G-C	SPTLC2	c.483-671C>G	-	IntronicSNV	-	3/11
4-148445429-A-T	EDNRA	c.421-11600A>T	-	IntronicSNV	-	2/5
6-151225565-G-A	MTHFD1L	c.781-1221G>A	-	IntronicSNV	-	7/27
7-24966446-C-A	OSBPL3	c.1-34355G>T	-	IntronicSNV	-	1/22
6-69938177-G-C	ADGRB3	c.2481-5005G>C	-	IntronicSNV	-	17/31
3-185795333-T-C	ETV5	c.650+2273A>G	-	IntronicSNV	-	7/12
18-66714832-G-A	CCDC102B	c.1435-6435G>A	-	IntronicSNV	-	7/7
12-44932268-T-C	NELL2	c.1664-5764A>G	-	IntronicSNV	-	16/20
2-135880643-A-G	RAB3GAP1	c.749-1092A>G	-	IntronicSNV	-	8/23
6-110051141-T-G	FIG4	c.446+2673T>G	-	IntronicSNV	-	4/22
6-110051141-T-A	FIG4	c.446+2673T>A	-	IntronicSNV	-	4/22
6-109965474-G-T	AK9	c.834+343C>A	-	IntronicSNV	-	9/40
22-23614436-G-A	BCR	c.1921+657G>A	-	IntronicSNV	-	6/22
15-72846354-G-A	ARIH1	c.589-1258G>A	-	IntronicSNV	-	3/13
18-66717718-A-C	CCDC102B	c.1435-3549A>C	-	IntronicSNV	-	7/7
20-7894061-G-A	HAO1	c.545+750C>T	-	IntronicSNV	-	3/7
2-136575887-C-T	LCT	c.987-256G>A	-	IntronicSNV	-	5/16
2-136575887-C-A	LCT	c.987-256G>T	-	IntronicSNV	-	5/16
22-35815485-C-T	MCM5	c.1704-392C>T	-	IntronicSNV	-	13/16
5-14745357-A-G	ANKH	c.915+622T>C	-	IntronicSNV	-	7/11
2-136445869-G-A	R3HDM1	c.2354+7975G>A	-	IntronicSNV	-	20/25
9-91154126-A-G	NXNL2	c.302+3475A>G	-	IntronicSNV	-	1/2
16-50759547-A-T	NOD2	c.2966+64A>T	-	IntronicSNV	-	10/11
17-38335870-C-T	RAPGEFL1	c.517+1237C>T	-	intron_variant	-	2/15
1-161811555-T-C	ATF6	c.1188-4684T>C	-	IntronicSNV	-	9/15
9-108050418-C-G	SLC44A1	c.37-11083C>G	-	IntronicSNV	-	1/15
20-964652-T-C	RSPO4	c.80-15871A>G	-	IntronicSNV	-	1/4
5-169260680-C-T	DOCK2	c.2704-7081C>T	-	IntronicSNV	-	26/51
2-136097394-C-T	ZRANB3	c.677+5726G>A	-	IntronicSNV	-	6/20
2-135890608-G-C	RAB3GAP1	c.1326+54G>C	-	IntronicSNV	-	14/23
10-135224960-A-G	MTG1	c.753-8024A>G	-	IntronicSNV	-	9/10
1-182766498-G-T	NPL	c.68+2924G>T	-	IntronicSNV	-	3/12
2-175289144-C-A	SCRN3	c.918-59C>A	-	IntronicSNV	-	6/7
6-109997143-G-A	AK9	c.1-195C>T	-	IntronicSNV	-	1/40
2-101591443-A-C	NPAS2	c.1282+37A>C	-	IntronicSNV	-	13/20
2-135980201-T-C	ZRANB3	c.2250+1795A>G	-	IntronicSNV	-	15/20
1-59249360-TG-TGTG	JUN	c.1-619_1-618dup	-	5-UTRInsertion	1/1	-
2-136556182-T-C	LCT	c.4867-474A>G	-	IntronicSNV	-	12/16
6-51746280-A-C	PKHD1	c.7350+1611T>G	-	IntronicSNV	-	46/66
6-51746280-A-G	PKHD1	c.7350+1611T>C	-	IntronicSNV	-	46/66
6-51746280-A-T	PKHD1	c.7350+1611T>A	-	IntronicSNV	-	46/66
2-134116853-G-A	NCKAP5	c.70-56171C>T	-	IntronicSNV	-	3/17
5-115901872-T-A	SEMA6A	c.-39+8009A>T	-	intron_variant	-	1/18
2-134116853-G-T	NCKAP5	c.70-56171C>A	-	IntronicSNV	-	3/17
2-136061560-G-T	ZRANB3	c.966+9499C>A	-	IntronicSNV	-	8/20
2-88423510-A-G	FABP1	c.333+503T>C	-	IntronicSNV	-	3/3
2-203569287-T-C	FAM117B	c.753+8532T>C	-	IntronicSNV	-	2/7
2-133731788-T-G	NCKAP5	c.430-10346A>C	-	IntronicSNV	-	7/17
12-56743367-T-C	STAT2	c.1257+6A>G	-	IntronicSNV	-	14/23
17-73540855-T-G	LLGL2	c.75+1273T>G	-	IntronicSNV	-	2/24
5-137872116-G-A	ETF1	c.86+6406C>T	-	IntronicSNV	-	2/10
11-117610854-G-C	DSCAML1	c.511+36652C>G	-	intron_variant	-	3/32
5-132012725-T-C	IL4	c.183+2527T>C	-	IntronicSNV	-	2/3
6-109928008-T-C	AK9	c.1842+3560A>G	-	IntronicSNV	-	17/40
2-136608651-A-C	MCM6	c.1917+321T>G	-	IntronicSNV	-	13/16
1-53264486-A-T	ZYG11B	c.1485+2030A>T	-	IntronicSNV	-	8/13
12-56722060-T-G	PAN2	c.535A>C	p.Ile179Leu	Missense	4/26	-
5-137876920-G-A	ETF1	c.86+1602C>T	-	IntronicSNV	-	2/10
17-73550047-A-T	LLGL2	c.76-2080A>T	-	IntronicSNV	-	2/24
1-208403258-C-T	PLXNA2	c.1-11991G>A	-	IntronicSNV	-	1/31
5-132012725-T-G	IL4	c.183+2527T>G	-	IntronicSNV	-	2/3
2-136203038-A-C	ZRANB3	c.162-54648T>G	-	IntronicSNV	-	2/20
17-38500914-T-C	RARA	c.179-3654T>C	-	IntronicSNV	-	2/8
2-136630170-A-G	MCM6	c.254+97T>C	-	IntronicSNV	-	2/16
6-109945747-T-G	AK9	c.1255-5308A>C	-	IntronicSNV	-	12/40
2-135469769-A-G	TMEM163	c.322+1001T>C	-	IntronicSNV	-	2/7
22-23623284-T-C	BCR	c.2116-2880T>C	-	IntronicSNV	-	8/22
2-136447707-T-C	R3HDM1	c.2354+9813T>C	-	IntronicSNV	-	20/25
6-51709404-T-G	PKHD1	c.8107+3169A>C	-	IntronicSNV	-	50/66
6-51709404-T-C	PKHD1	c.8107+3169A>G	-	IntronicSNV	-	50/66
13-45784263-T-G	GTF2F2	c.386+2623T>G	-	IntronicSNV	-	5/7
2-136407445-A-G	R3HDM1	c.1624-1858A>G	-	IntronicSNV	-	16/25
2-136242667-C-T	ZRANB3	c.161+19232G>A	-	IntronicSNV	-	2/20
2-136667301-T-C	DARS	c.1414+1408A>G	-	IntronicSNV	-	15/15
15-28425771-G-T	HERC2	c.8938-1402C>A	-	IntronicSNV	-	57/92
15-28425771-G-C	HERC2	c.8938-1402C>G	-	IntronicSNV	-	57/92
3-140695993-T-G	SLC25A36	c.*698T>G	-	3-UTRSNV	7/7	-
7-42035623-T-C	GLI3	c.1498-17276A>G	-	IntronicSNV	-	10/14
9-35364353-G-A	UNC13B	c.1168-2591G>A	-	IntronicSNV	-	10/38
2-135965002-A-G	ZRANB3	c.3009+2T>C	-	IntronicSNV	-	19/20
5-137863134-A-C	ETF1	c.87-8578T>G	-	IntronicSNV	-	2/10
7-107613379-G-A	LAMB1	c.1562+58C>T	-	IntronicSNV	-	13/33
1-53225363-A-G	ZYG11B	c.196+3068A>G	-	IntronicSNV	-	2/13
5-132109742-G-A	SEPT8	c.30+3058C>T	-	IntronicSNV	-	1/9
18-6023233-G-A	L3MBTL4	c.1471+23494C>T	-	IntronicSNV	-	17/19
1-154528086-T-C	UBE2Q1	c.433-78A>G	-	IntronicSNV	-	2/12
3-140695993-T-A	SLC25A36	c.*698T>A	-	3-UTRSNV	7/7	-
2-136680534-A-G	DARS	c.677-46T>C	-	IntronicSNV	-	8/15
12-56601739-G-T	RNF41	c.499-206C>A	-	IntronicSNV	-	5/6
15-75081078-G-A	CSK	c.-66+6017G>A	-	intron_variant	-	1/12
3-179741099-T-C	PEX5L	c.21+13268A>G	-	IntronicSNV	-	1/14
2-136189475-G-T	ZRANB3	c.162-41085C>A	-	IntronicSNV	-	2/20
11-19908729-C-G	NAV2	c.771-5251C>G	-	IntronicSNV	-	5/37
11-19908729-C-A	NAV2	c.771-5251C>A	-	IntronicSNV	-	5/37
21-16399980-G-A	NRIP1	c.-457-13193C>T	-	intron_variant	-	2/3
3-3123326-A-C	IL5RA	c.995-5015T>G	-	IntronicSNV	-	10/12
18-8205596-T-G	PTPRM	c.2301-38460T>G	-	IntronicSNV	-	14/32
2-136408291-C-T	R3HDM1	c.1624-1012C>T	-	IntronicSNV	-	16/25
22-23626081-G-C	BCR	c.2116-83G>C	-	IntronicSNV	-	8/22
22-23626081-G-A	BCR	c.2116-83G>A	-	IntronicSNV	-	8/22
11-20931291-C-T	NELL1	c.604-8437C>T	-	IntronicSNV	-	5/19
5-32596846-G-A	SUB1	c.196-2221G>A	-	IntronicSNV	-	3/4
2-97489870-C-A	CNNM3	c.1226-925C>A	-	IntronicSNV	-	1/7
2-97489870-C-T	CNNM3	c.1226-925C>T	-	IntronicSNV	-	1/7
4-148764252-G-A	ARHGAP10	c.313-4050G>A	-	IntronicSNV	-	3/22
2-136128254-A-G	ZRANB3	c.181-17056T>C	-	IntronicSNV	-	3/20
2-136409574-A-G	R3HDM1	c.1895A>G	p.Gln632Arg	Missense	17/26	-
2-136409574-A-C	R3HDM1	c.1895A>C	p.Gln632Pro	Missense	17/26	-
2-136409574-A-T	R3HDM1	c.1895A>T	p.Gln632Leu	Missense	17/26	-
3-8797095-T-C	OXTR	c.923-2185A>G	-	IntronicSNV	-	3/3
1-161811555-T-G	ATF6	c.1188-4684T>G	-	IntronicSNV	-	9/15
2-136609746-A-G	MCM6	c.1755+611T>C	-	IntronicSNV	-	12/16
1-182771711-G-T	NPL	c.69-1122G>T	-	IntronicSNV	-	3/12
1-103400314-T-A	COL11A1	c.3145-202A>T	-	IntronicSNV	-	43/64
1-182771711-G-A	NPL	c.69-1122G>A	-	IntronicSNV	-	3/12
2-136630170-A-C	MCM6	c.254+97T>G	-	IntronicSNV	-	2/16
2-136555525-T-G	LCT	c.4976+74A>C	-	IntronicSNV	-	13/16
2-136555525-T-A	LCT	c.4976+74A>T	-	IntronicSNV	-	13/16
2-136631545-G-C	MCM6	c.108-1132C>G	-	IntronicSNV	-	1/16
7-42036345-G-A	GLI3	c.1498-17998C>T	-	IntronicSNV	-	10/14
7-42036345-G-C	GLI3	c.1498-17998C>G	-	IntronicSNV	-	10/14
6-109879241-G-T	AK9	c.2751+5559C>A	-	IntronicSNV	-	24/40
2-135912977-G-A	RAB3GAP1	c.2289+1531G>A	-	IntronicSNV	-	19/23
2-135912977-G-T	RAB3GAP1	c.2289+1531G>T	-	IntronicSNV	-	19/23
9-127287329-G-A	NR6A1	c.1190-177C>T	-	IntronicSNV	-	8/9
6-33753673-G-A	LEMD2	c.777+838C>T	-	IntronicSNV	-	2/8
6-33753673-G-C	LEMD2	c.777+838C>G	-	IntronicSNV	-	2/8
5-14748236-C-T	ANKH	c.822+1045G>A	-	IntronicSNV	-	6/11
16-76521236-T-G	CNTNAP4	c.1880-2347T>G	-	intron_variant	-	13/24
20-7908901-C-G	HAO1	c.289+6230G>C	-	IntronicSNV	-	2/7
9-123677625-G-A	TRAF1	c.229-1047C>T	-	IntronicSNV	-	3/7
5-137905448-T-A	HSPA9	c.411-710A>T	-	IntronicSNV	-	4/16
5-137905448-T-G	HSPA9	c.411-710A>C	-	IntronicSNV	-	4/16
19-1391235-G-A	NDUFS7	c.455+71G>A	-	IntronicSNV	-	6/7
2-136156753-C-A	ZRANB3	c.162-8363G>T	-	IntronicSNV	-	2/20
11-8129296-C-A	RIC3	c.*2949G>T	-	3-UTRSNV	6/6	-
11-8129296-C-G	RIC3	c.*2949G>C	-	3-UTRSNV	6/6	-
14-61745417-A-G	TMEM30B	c.*1393T>C	-	3-UTRSNV	1/1	-
5-14697914-C-T	OTULIN	c.*4757C>T	-	3-UTRSNV	7/7	-
3-191935121-G-T	FGF12	c.415-46676C>A	-	IntronicSNV	-	3/4
15-75044238-G-A	CYP1A2	c.1042+43G>A	-	IntronicSNV	-	4/6
12-101993580-C-T	MYBPC1	c.25+4707C>T	-	IntronicSNV	-	1/29
12-101993580-C-A	MYBPC1	c.25+4707C>A	-	IntronicSNV	-	1/29
8-17236582-A-G	MTMR7	c.25-5833T>C	-	IntronicSNV	-	1/13
2-136436317-T-C	R3HDM1	c.2203-1426T>C	-	IntronicSNV	-	19/25
12-71523134-A-C	TSPAN8	c.637T>G	p.Ser213Ala	Missense	8/9	-
2-136677192-T-C	DARS	c.959+831A>G	-	IntronicSNV	-	10/15
1-85308524-T-G	LPAR3	c.736+22544A>C	-	IntronicSNV	-	2/2
4-39586775-T-G	SMIM14	c.76-12692A>C	-	IntronicSNV	-	2/4
2-135111439-C-T	MGAT5	c.1246+3930C>T	-	IntronicSNV	-	9/15
12-70934961-C-T	PTPRB	c.5495-224G>A	-	IntronicSNV	-	22/33
5-115904410-A-G	SEMA6A	c.-39+5471T>C	-	intron_variant	-	1/18
18-33736180-A-G	ELP2	c.1276-249A>G	-	IntronicSNV	-	12/21
1-53288239-A-G	ZYG11B	c.*938A>G	-	3-UTRSNV	14/14	-
5-115859730-A-G	SEMA6A	c.1-19090T>C	-	IntronicSNV	-	1/18
2-135715957-A-G	CCNT2	c.*3739A>G	-	3-UTRSNV	9/9	-
2-163148411-A-C	IFIH1	c.874+1663T>G	-	IntronicSNV	-	4/15
11-117610387-G-C	DSCAML1	c.511+37119C>G	-	intron_variant	-	3/32
2-136106561-T-C	ZRANB3	c.591+993A>G	-	IntronicSNV	-	5/20
9-123677625-G-C	TRAF1	c.229-1047C>G	-	IntronicSNV	-	3/7
14-30177166-T-C	PRKD1	c.403+17576A>G	-	IntronicSNV	-	2/17
5-169279780-T-C	DOCK2	c.2799+11924T>C	-	IntronicSNV	-	27/51
5-32130401-C-A	GOLPH3	c.473-3659G>T	-	IntronicSNV	-	3/3
4-148810260-A-G	ARHGAP10	c.1034+7177A>G	-	IntronicSNV	-	10/22
2-135290453-G-C	TMEM163	c.458+17688C>G	-	IntronicSNV	-	4/7
14-30180340-C-T	PRKD1	c.403+14402G>A	-	IntronicSNV	-	2/17
2-135205984-G-T	MGAT5	c.2028-236G>T	-	IntronicSNV	-	15/15
2-136464965-C-G	R3HDM1	c.2355-2038C>G	-	IntronicSNV	-	20/25
2-136464965-C-T	R3HDM1	c.2355-2038C>T	-	IntronicSNV	-	20/25
7-42040158-A-T	GLI3	c.1498-21811T>A	-	IntronicSNV	-	10/14
7-42040158-A-G	GLI3	c.1498-21811T>C	-	IntronicSNV	-	10/14
2-135902172-C-G	RAB3GAP1	c.1924-5767C>G	-	IntronicSNV	-	17/23
2-86350664-A-G	PTCD3	c.655-160A>G	-	IntronicSNV	-	8/23
2-233926201-G-A	INPP5D	c.134+879G>A	-	IntronicSNV	-	1/27
1-161741274-T-C	ATF6	c.82+5042T>C	-	IntronicSNV	-	1/15
7-99217424-G-A	ZSCAN25	c.195G>A	p.Glu65Glu	Synonymous	4/8	-
2-69251810-A-G	ANTXR1	c.152+11027A>G	-	IntronicSNV	-	1/17
2-135209142-G-A	MGAT5	c.*2724G>A	-	3-UTRSNV	16/16	-
2-136575534-T-C	LCT	c.1084A>G	p.Ile362Val	Missense	6/17	-
4-66469440-T-A	EPHA5	c.247-1418A>T	-	IntronicSNV	-	2/17
3-12346911-C-T	PPARG	c.-3+17392C>T	-	intron_variant	-	1/6
1-197413628-C-T	CRB1	c.4005+2206C>T	-	IntronicSNV	-	11/11
2-136159683-A-C	ZRANB3	c.162-11293T>G	-	IntronicSNV	-	2/20
3-11041808-C-T	SLC6A1	c.-216+7193C>T	-	intron_variant	-	1/15
12-15560196-A-G	PTPRO	c.76-76712A>G	-	IntronicSNV	-	1/25
12-121768248-C-T	ANAPC5	c.825+138G>A	-	IntronicSNV	-	9/16
5-90426633-A-G	ADGRV1	c.18433-19214A>G	-	IntronicSNV	-	87/89
2-136268788-A-C	ZRANB3	c.1-6729T>G	-	IntronicSNV	-	1/20
1-241375666-C-T	RGS7	c.79-113604G>A	-	IntronicSNV	-	2/17
5-137854924-T-C	ETF1	c.87-368A>G	-	IntronicSNV	-	2/10
6-131987353-A-G	ENPP3	c.563-5035A>G	-	IntronicSNV	-	6/24
14-81493693-G-A	TSHR	c.171-34799G>A	-	IntronicSNV	-	1/9
2-135466520-G-A	TMEM163	c.322+4250C>T	-	IntronicSNV	-	2/7
6-76588562-C-T	MYO6	c.2078-975C>T	-	IntronicSNV	-	20/34
2-135426782-A-G	TMEM163	c.322+43988T>C	-	IntronicSNV	-	2/7
22-23614008-A-T	BCR	c.1921+229A>T	-	IntronicSNV	-	6/22
22-33048338-T-C	SYN3	c.709-55616A>G	-	IntronicSNV	-	6/13
8-17236582-A-C	MTMR7	c.25-5833T>G	-	IntronicSNV	-	1/13
8-141541881-C-T	AGO2	c.*262G>A	-	3-UTRSNV	19/19	-
3-191933006-T-C	FGF12	c.415-44561A>G	-	IntronicSNV	-	3/4
2-101579811-C-G	NPAS2	c.599-709C>G	-	IntronicSNV	-	7/20
2-136707480-A-G	DARS	c.321-6430T>C	-	IntronicSNV	-	4/15
12-130188504-T-A	TMEM132D	c.80-3261A>T	-	IntronicSNV	-	1/8
2-136531252-C-T	UBXN4	c.950+1135C>T	-	IntronicSNV	-	9/12
6-109953266-G-A	AK9	c.1254+860C>T	-	IntronicSNV	-	12/40
2-136531252-C-A	UBXN4	c.950+1135C>A	-	IntronicSNV	-	9/12
3-122738307-A-G	SEMA5B	c.-39+8004T>C	-	intron_variant	-	1/22
2-197122493-T-A	HECW2	c.3419+54A>T	-	IntronicSNV	-	18/28
4-25820615-C-T	SEL1L3	c.1424-715G>A	-	IntronicSNV	-	8/23
6-109953266-G-T	AK9	c.1254+860C>A	-	IntronicSNV	-	12/40
2-136129791-A-G	ZRANB3	c.180+18581T>C	-	IntronicSNV	-	3/20
2-136112123-A-G	ZRANB3	c.181-925T>C	-	IntronicSNV	-	3/20
11-8122234-G-A	TUB	c.1380+86G>A	-	IntronicSNV	-	11/12
3-186276393-C-A	TBCCD1	c.337-32G>T	-	IntronicSNV	-	2/7
5-106878464-A-G	EFNA5	c.126-115254T>C	-	IntronicSNV	-	1/4
5-115899501-C-A	SEMA6A	c.-39+10380G>T	-	intron_variant	-	1/18
5-115899501-C-T	SEMA6A	c.-39+10380G>A	-	intron_variant	-	1/18
3-179736974-C-T	PEX5L	c.21+17393G>A	-	IntronicSNV	-	1/14
3-191987899-C-T	FGF12	c.414+65251G>A	-	IntronicSNV	-	3/4
9-2190296-A-G	SMARCA2	c.4595-970A>G	-	IntronicSNV	-	32/33
3-186276393-C-T	TBCCD1	c.337-32G>A	-	IntronicSNV	-	2/7
2-135888078-G-T	RAB3GAP1	c.1067-44G>T	-	IntronicSNV	-	12/23
7-99325882-C-A	CYP3A7	c.165+2800G>T	-	IntronicSNV	-	2/12
2-136303450-G-A	R3HDM1	c.-250+14247G>A	-	intron_variant	-	1/25
2-135401339-T-C	TMEM163	c.322+69431A>G	-	IntronicSNV	-	2/7
5-136983954-G-A	KLHL3	c.808-8288C>T	-	IntronicSNV	-	8/14
2-200157595-T-G	SATB2	c.1740+15888A>C	-	IntronicSNV	-	11/11
2-136296989-G-T	R3HDM1	c.-250+7786G>T	-	intron_variant	-	1/25
2-136016514-C-T	ZRANB3	c.1539+6590G>A	-	IntronicSNV	-	12/20
2-136016514-C-A	ZRANB3	c.1539+6590G>T	-	IntronicSNV	-	12/20
2-136182484-C-T	ZRANB3	c.162-34094G>A	-	IntronicSNV	-	2/20
1-12296232-C-A	VPS13D	c.97+1812C>A	-	IntronicSNV	-	2/69
4-143634746-G-A	INPP4B	c.-290+12246C>T	-	intron_variant	-	2/26
1-241374115-A-G	RGS7	c.79-112053T>C	-	IntronicSNV	-	2/17
2-136590746-C-T	LCT	c.655G>A	p.Val219Ile	Missense	2/17	-
2-136590746-C-A	LCT	c.655G>T	p.Val219Phe	Missense	2/17	-
2-136726567-C-T	DARS	c.218-7499G>A	-	IntronicSNV	-	3/15
2-136726567-C-A	DARS	c.218-7499G>T	-	IntronicSNV	-	3/15
2-136393658-A-G	R3HDM1	c.808A>G	p.Met270Val	Missense	11/26	-
5-170460205-A-G	RANBP17	c.1710+64824A>G	-	IntronicSNV	-	14/27
2-136151252-C-T	ZRANB3	c.162-2862G>A	-	IntronicSNV	-	2/20
2-135972093-G-A	ZRANB3	c.2495+2942C>T	-	IntronicSNV	-	17/20
2-135036696-C-T	MGAT5	c.406+8575C>T	-	IntronicSNV	-	2/15
9-113547476-G-A	MUSK	c.1328+180G>A	-	IntronicSNV	-	11/13
3-191960093-G-A	FGF12	c.415-71648C>T	-	IntronicSNV	-	3/4
2-136288273-C-T	ZRANB3	c.-8+424G>A	-	intron_variant	-	1/20
5-170460205-A-T	RANBP17	c.1710+64824A>T	-	IntronicSNV	-	14/27
5-170460205-A-C	RANBP17	c.1710+64824A>C	-	IntronicSNV	-	14/27
2-135036696-C-A	MGAT5	c.406+8575C>A	-	IntronicSNV	-	2/15
2-136622543-T-G	MCM6	c.1078+40A>C	-	IntronicSNV	-	7/16
2-135370656-G-A	TMEM163	c.323-60994C>T	-	IntronicSNV	-	2/7
4-73351177-T-C	ADAMTS3	c.504+63018A>G	-	IntronicSNV	-	3/21
14-78298732-C-A	ADCK1	c.219+9871C>A	-	IntronicSNV	-	3/10
2-135437534-C-T	TMEM163	c.322+33236G>A	-	IntronicSNV	-	2/7
5-137903084-A-C	HSPA9	c.716+60T>G	-	IntronicSNV	-	7/16
5-32130401-C-T	GOLPH3	c.473-3659G>A	-	IntronicSNV	-	3/3
2-135419075-G-A	TMEM163	c.322+51695C>T	-	IntronicSNV	-	2/7
17-7729706-A-G	DNAH2	c.11853+1661A>G	-	IntronicSNV	-	77/85
17-7729706-A-T	DNAH2	c.11853+1661A>T	-	IntronicSNV	-	77/85
2-135880065-A-G	RAB3GAP1	c.748+1577A>G	-	IntronicSNV	-	8/23
2-135453916-T-C	TMEM163	c.322+16854A>G	-	IntronicSNV	-	2/7
17-75431978-T-C	SEPT9	c.667+33193T>C	-	IntronicSNV	-	2/10
7-121606698-C-T	PTPRZ1	c.125-1307C>T	-	IntronicSNV	-	2/29
10-542167-G-A	DIP2C	c.86-9697C>T	-	IntronicSNV	-	1/36
2-88424066-T-C	FABP1	c.280A>G	p.Thr94Ala	Missense	3/4	-
19-3976321-T-G	EEF2	c.*231A>C	-	3-UTRSNV	15/15	-
4-39420869-T-C	KLB	c.825+11475T>C	-	IntronicSNV	-	1/4
4-159454279-A-G	RXFP1	c.49+11102A>G	-	IntronicSNV	-	1/17
10-547658-G-T	DIP2C	c.86-15188C>A	-	IntronicSNV	-	1/36
2-136214307-C-T	ZRANB3	c.161+47592G>A	-	IntronicSNV	-	2/20
20-37237147-T-C	ARHGAP40	c.137+6425T>C	-	IntronicSNV	-	1/14
2-135781635-C-T	MAP3K19	c.22+561G>A	-	IntronicSNV	-	1/9
6-33703230-G-A	IP6K3	c.24C>T	p.Asp8Asp	Synonymous	2/6	-
6-32975896-A-G	HLA-DOA	c.225T>C	p.Gly75Gly	Synonymous	2/5	-
1-61668784-C-T	NFIA	c.560-74408C>T	-	IntronicSNV	-	2/9
3-191990575-G-T	FGF12	c.414+62575C>A	-	IntronicSNV	-	3/4
2-136115501-C-T	ZRANB3	c.181-4303G>A	-	IntronicSNV	-	3/20
9-16656653-T-C	BNC2	c.327+71142A>G	-	intron_variant	-	2/5
3-191990575-G-A	FGF12	c.414+62575C>T	-	IntronicSNV	-	3/4
7-42070252-T-G	GLI3	c.1029-4241A>C	-	IntronicSNV	-	7/14
2-86015651-T-C	ATOH8	c.*1638T>C	-	3-UTRSNV	3/3	-
12-71531639-G-A	TSPAN8	c.444+94C>T	-	IntronicSNV	-	6/8
2-136127100-T-C	ZRANB3	c.181-15902A>G	-	IntronicSNV	-	3/20
18-66718841-A-G	CCDC102B	c.1435-2426A>G	-	IntronicSNV	-	7/7
22-23625550-C-T	BCR	c.2116-614C>T	-	IntronicSNV	-	8/22
5-14748556-T-C	ANKH	c.822+725A>G	-	IntronicSNV	-	6/11
6-109863238-A-C	AK9	c.3350+12T>G	-	IntronicSNV	-	27/40
1-74823548-G-A	FPGT-TNNI3K	c.1519+3735G>A	-	IntronicSNV	-	13/26
18-33752823-A-G	ELP2	c.2325-1625A>G	-	IntronicSNV	-	21/21
5-14748958-T-G	ANKH	c.822+323A>C	-	IntronicSNV	-	6/11
10-82309427-T-C	SH2D4B	c.37+8738T>C	-	IntronicSNV	-	1/6
5-32588433-C-A	SUB1	c.1-186C>A	-	IntronicSNV	-	1/4
6-33036210-G-T	HLA-DPA1	c.*217C>A	-	IntronicSNV	-	4/4
12-50841057-A-G	LARP4	c.804+5631A>G	-	IntronicSNV	-	8/15
2-197986501-T-G	ANKRD44	c.694-233A>C	-	IntronicSNV	-	7/9
17-38335870-C-A	RAPGEFL1	c.517+1237C>A	-	intron_variant	-	2/15
2-136101823-C-T	ZRANB3	c.677+1297G>A	-	IntronicSNV	-	6/20
8-10852164-G-C	XKR6	c.765-69824C>G	-	IntronicSNV	-	1/2
8-10852164-G-A	XKR6	c.765-69824C>T	-	IntronicSNV	-	1/2
10-547567-A-G	DIP2C	c.86-15097T>C	-	IntronicSNV	-	1/36
15-29645263-A-G	FAM189A1	c.276+28716T>C	-	IntronicSNV	-	2/10
8-19814696-C-G	LPL	c.1018+1102C>G	-	IntronicSNV	-	6/9
2-135218605-A-G	TMEM163	c.668-2861T>C	-	IntronicSNV	-	6/7
2-175293638-C-T	SCRN3	c.*1015C>T	-	3-UTRSNV	8/8	-
3-3121848-C-T	IL5RA	c.995-3537G>A	-	IntronicSNV	-	10/12
17-72691631-T-G	CD300LF	c.717+233A>C	-	IntronicSNV	-	6/6
17-72691631-T-A	CD300LF	c.717+233A>T	-	IntronicSNV	-	6/6
12-56737973-A-G	STAT2	c.2103-54T>C	-	IntronicSNV	-	22/23
2-136282110-T-G	ZRANB3	c.-8+6587A>C	-	intron_variant	-	1/20
2-136117271-A-G	ZRANB3	c.181-6073T>C	-	IntronicSNV	-	3/20
16-53769919-C-G	FTO	c.45+31778C>G	-	IntronicSNV	-	1/8
4-66469440-T-G	EPHA5	c.247-1418A>C	-	IntronicSNV	-	2/17
2-135902220-C-T	RAB3GAP1	c.1924-5719C>T	-	IntronicSNV	-	17/23
2-135114889-A-G	MGAT5	c.1247-4957A>G	-	IntronicSNV	-	9/15
8-10851455-A-G	XKR6	c.765-69115T>C	-	IntronicSNV	-	1/2
18-33721325-C-G	ELP2	c.588+161C>G	-	IntronicSNV	-	6/21
2-136459227-A-G	R3HDM1	c.2355-7776A>G	-	IntronicSNV	-	20/25
2-135837906-C-A	RAB3GAP1	c.151-10662C>A	-	IntronicSNV	-	3/23
4-66469440-T-C	EPHA5	c.247-1418A>G	-	IntronicSNV	-	2/17
8-10851455-A-T	XKR6	c.765-69115T>A	-	IntronicSNV	-	1/2
20-966215-A-G	RSPO4	c.79+16514T>C	-	IntronicSNV	-	1/4
2-198012407-G-T	ANKRD44	c.112-578C>A	-	IntronicSNV	-	2/9
2-136569848-C-A	LCT	c.2353+33G>T	-	IntronicSNV	-	7/16