PMID: 35115730

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature neuroscience

Baxi, Emily G EG, Thompson, Terri T, Li, Jonathan J, Kaye, Julia A JA, Lim, Ryan G RG, Wu, Jie J, Ramamoorthy, Divya D, Lima, Leandro L, Vaibhav, Vineet V, Matlock, Andrea A, Frank, Aaron A, Coyne, Alyssa N AN, Landin, Barry B, Ornelas, Loren L, Mosmiller, Elizabeth E, Thrower, Sara S, Farr, S Michelle SM, Panther, Lindsey L, Gomez, Emilda E, Galvez, Erick E, Perez, Daniel D, Meepe, Imara I, Lei, Susan S, Mandefro, Berhan B, Trost, Hannah H, Pinedo, Louis L, Banuelos, Maria G MG, Liu, Chunyan C, Moran, Ruby R, Garcia, Veronica V, Workman, Michael M, Ho, Richie R, Wyman, Stacia S, Roggenbuck, Jennifer J, Harms, Matthew B MB, Stocksdale, Jennifer J, Miramontes, Ricardo R, Wang, Keona K, Venkatraman, Vidya V, Holewenski, Ronald R, Sundararaman, Niveda N, Pandey, Rakhi R, Manalo, Danica-Mae DM, Donde, Aneesh A, Huynh, Nhan N, Adam, Miriam M, Wassie, Brook T BT, Vertudes, Edward E, Amirani, Naufa N, Raja, Krishna K, Thomas, Reuben R, Hayes, Lindsey L, Lenail, Alex A, Cerezo, Aianna A, Luppino, Sarah S, Farrar, Alanna A, Pothier, Lindsay L, Prina, Carolyn C, Morgan, Todd T, Jamil, Arish A, Heintzman, Sarah S, Jockel-Balsarotti, Jennifer J, Karanja, Elizabeth E, Markway, Jesse J, McCallum, Molly M, Joslin, Ben B, Alibazoglu, Deniz D, Kolb, Stephen S, Ajroud-Driss, Senda S, Baloh, Robert R, Heitzman, Daragh D, Miller, Tim T, Glass, Jonathan D JD, Patel-Murray, Natasha Leanna NL, Yu, Hong H, Sinani, Ervin E, Vigneswaran, Prasha P, Sherman, Alexander V AV, Ahmad, Omar O, Roy, Promit P, Beavers, Jay C JC, Zeiler, Steven S, Krakauer, John W JW, Agurto, Carla C, Cecchi, Guillermo G, Bellard, Mary M, Raghav, Yogindra Y, Sachs, Karen K, Ehrenberger, Tobias T, Bruce, Elizabeth E, Cudkowicz, Merit E ME, Maragakis, Nicholas N, Norel, Raquel R, Van Eyk, Jennifer E JE, Finkbeiner, Steven S, Berry, James J, Sareen, Dhruv D, Thompson, Leslie M LM, Fraenkel, Ernest E, Svendsen, Clive N CN, Rothstein, Jeffrey D JD

2022-02-03

3105 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
5-131721127-C-T	SLC22A5	c.760C>T	p.R254*	Nonsense	4/10	-
12-103234270-C-T	PAH	c.1223G>A	p.R408Q	Missense	12/13	-
12-111856571-G-C	SH2B3	c.622G>C	p.E208Q	Missense	2/8	-
4-106320294-G-A	PPA2	c.683C>T	p.P228L	Missense	8/12	-
14-94847386-G-A	SERPINA1	c.739C>T	p.R247C	Missense	3/5	-
14-94844866-G-A	SERPINA1	c.1177C>T	p.P393S	Missense	5/5	-
14-94849388-G-A	SERPINA1	c.187C>T	p.R63C	Missense	2/5	-
14-94847404-T-A	SERPINA1	c.721A>T	p.K241*	Nonsense	3/5	-
4-6303194-C-T	WFS1	c.1672C>T	p.R558C	Missense	8/8	-
4-47663848-G-A	CORIN	c.1615C>T	p.R539C	Missense	12/22	-
12-6554611-G-A	CD27	c.158G>A	p.C53Y	Missense	2/6	-
13-52518297-T-G	ATP7B	c.3191A>C	p.E1064A	Missense	14/21	-
14-23883310-G-A	MYH7	c.5561C>T	p.T1854M	Missense	38/40	-
19-11231154-C-T	LDLR	c.2096C>T	p.P699L	Missense	14/18	-
17-8006708-G-A	ALOXE3	c.1889C>T	p.P630L	Missense	15/16	-
17-40001630-G-A	KLHL10	c.937G>A	p.A313T	Missense	3/5	-
13-28494372-C-A	PDX1	c.97C>A	p.P33T	Missense	1/2	-
17-7127698-C-T	ACADVL	c.1591C>T	p.R531W	Missense	16/20	-
8-19809316-G-C	LPL	c.286G>C	p.V96L	Missense	3/10	-
8-19805708-G-A	LPL	c.106G>A	p.D36N	Missense	2/10	-
17-6329101-C-T	AIPL1	c.834G>A	p.W278*	Nonsense	6/6	-
1-17371319-C-T	SDHB	c.137G>A	p.R46Q	Missense	2/8	-
X-66766162-C-T	AR	c.1174C>T	p.P392S	Missense	1/8	-
16-8905030-G-A	PMM2	c.442G>A	p.D148N	Missense	5/8	-
18-12337348-C-T	AFG3L2	c.2167G>A	p.V723M	Missense	16/17	-
15-89873415-G-A	POLG	c.752C>T	p.T251I	Missense	3/23	-
4-1807494-G-A	FGFR3	c.1663G>A	p.V555M	Missense	13/18	-
1-145416320-T-A	HJV	c.665T>A	p.I222N	Missense	4/4	-
16-56868680-G-T	NUP93	c.1772G>T	p.G591V	Missense	16/22	-
3-10108951-G-A	FANCD2	c.2444G>A	p.R815Q	Missense	26/44	-
X-153997508-A-C	DKC1	c.838A>C	p.S280R	Missense	9/15	-
1-94471025-C-T	ABCA4	c.6119G>A	p.R2040Q	Missense	44/50	-
X-105279368-C-T	SERPINA7	c.631G>A	p.A211T	Missense	3/5	-
22-29130462-TG-T	CHEK2	c.247delC	p.Q83Kfs*27	Frameshift	2/15	-
10-31750140-A-C	ZEB1	c.233A>C	p.N78T	Missense	2/9	-
X-105278361-C-A	SERPINA7	c.909G>T	p.L303F	Missense	4/5	-
22-38131357-G-T	TRIOBP	c.5014G>T	p.G1672*	Nonsense	9/24	-
12-50349360-C-T	AQP2	c.785C>T	p.P262L	Missense	4/4	-
3-38647444-C-T	SCN5A	c.1336G>A	p.E446K	Missense	10/28	-
17-41063408-C-T	G6PC1	c.1039C>T	p.Q347*	Nonsense	5/5	-
11-89028410-C-CT	TYR	c.1467dupT	p.A490Cfs*20	Frameshift	5/5	-
18-21119949-T-A	NPC1	c.2621A>T	p.D874V	Missense	18/25	-
1-172634776-A-G	FASLG	c.466A>G	p.R156G	Missense	4/4	-
17-4806322-C-T	CHRNE	c.37G>A	p.G13R	Missense	1/12	-
14-74953134-C-T	NPC2	c.88G>A	p.V30M	Missense	2/5	-
7-144098634-G-A	NOBOX	c.349C>T	p.R117W	Missense	4/10	-
10-135180494-G-A	ECHS1	c.518C>T	p.A173V	Missense	5/8	-
11-47364285-C-G	MYBPC3	c.1468G>C	p.G490R	Missense	17/35	-
3-10083368-C-T	FANCD2	c.757C>T	p.R253*	Nonsense	10/44	-
7-33066500-G-A	NT5C3A	c.166C>T	p.R56*	Nonsense	2/9	-
7-33066500-G-C	NT5C3A	c.166C>G	p.R56G	Missense	2/9	-
1-20971042-G-A	PINK1	c.836G>A	p.R279H	Missense	4/8	-
10-13164390-C-A	OPTN	c.785C>A	p.S262*	Nonsense	8/15	-
17-18046894-G-A	MYO15A	c.5925G>A	p.W1975*	Nonsense	26/66	-
2-215928882-A-T	ABCA12	c.224T>A	p.L75H	Missense	3/53	-
17-48246607-G-A	SGCA	c.739G>A	p.V247M	Missense	6/10	-
17-78069149-C-T	CCDC40	c.2920C>T	p.Q974*	Nonsense	18/20	-
7-107302171-G-C	SLC26A4	c.85G>C	p.E29Q	Missense	2/21	-
11-88911122-A-G	TYR	c.1A>G	p.M1?	Missense	1/5	-
1-156108510-C-T	LMNA	c.1930C>T	p.R644C	Missense	11/12	-
2-26644264-C-T	DRC1	c.352C>T	p.Q118*	Nonsense	3/17	-
5-135398363-G-C	TGFBI	c.1998G>C	p.R666S	Missense	16/17	-
15-28259941-T-C	OCA2	c.1025A>G	p.Y342C	Missense	9/24	-
11-88911363-C-T	TYR	c.242C>T	p.P81L	Missense	1/5	-
11-105950201-G-A	AASDHPPT	c.191G>A	p.R64H	Missense	2/6	-
2-44539792-T-C	SLC3A1	c.1400T>C	p.M467T	Missense	8/10	-
14-23886504-C-A	MYH7	c.4377G>T	p.K1459N	Missense	32/40	-
2-241816973-G-A	AGXT	c.866G>A	p.R289H	Missense	9/11	-
17-42338993-C-T	SLC4A1	c.118G>A	p.E40K	Missense	4/20	-
12-123434446-G-A	ABCB9	c.736C>T	p.R246W	Missense	4/12	-
11-36597187-G-A	RAG1	c.2333G>A	p.R778Q	Missense	2/2	-
7-144098983-C-A	NOBOX	c.271G>T	p.G91W	Missense	3/10	-
1-158624528-G-T	SPTA1	c.2909C>A	p.A970D	Missense	21/52	-
12-22035732-G-A	ABCC9	c.1987C>T	p.R663C	Missense	16/40	-
8-43054647-G-A	HGSNAT	c.1843G>A	p.A615T	Missense	18/18	-
2-220078652-C-T	ABCB6	c.1474G>A	p.A492T	Missense	9/19	-
1-154574541-G-C	ADAR	c.577C>G	p.P193A	Missense	2/15	-
8-133894854-C-T	TG	c.886C>T	p.R296*	Nonsense	7/48	-
1-10042688-G-A	NMNAT1	c.769G>A	p.E257K	Missense	5/5	-
10-101565157-A-G	ABCC2	c.1483A>G	p.K495E	Missense	11/32	-
3-7503305-G-A	GRM7	c.1411G>A	p.G471R	Missense	7/10	-
2-110332292-C-T	SEPTIN10	c.466G>A	p.E156K	Missense	5/11	-
6-32814909-C-T	TAP1	c.2156G>A	p.R659Q	Missense	10/11	-
13-52534410-C-T	ATP7B	c.1995G>A	p.M665I	Missense	7/21	-
2-220075521-C-T	ABCB6	c.2168G>A	p.R723Q	Missense	16/19	-
9-98011537-G-A	FANCC	c.37C>T	p.Q13*	Nonsense	2/15	-
1-11082509-G-T	TARDBP	c.1043G>T	p.G348V	Missense	6/6	-
4-88533540-A-T	DSPP	c.202A>T	p.R68W	Missense	4/5	-
11-71146886-C-G	DHCR7	c.964-1G>C	-	IntronicSNV	-	8/8
11-71146886-C-A	DHCR7	c.964-1G>T	-	IntronicSNV	-	8/8
5-156895736-C-A	NIPAL4	c.527C>A	p.A114D	Missense	4/6	-
12-88477713-T-A	CEP290	c.4723A>T	p.K1575*	Nonsense	36/54	-
16-16251599-C-T	ABCC6	c.3803G>A	p.R1268Q	Missense	27/31	-
4-187158034-G-A	KLKB1	c.428G>A	p.S143N	Missense	5/15	-
16-8898702-T-C	PMM2	c.255+2T>C	-	IntronicSNV	-	3/7
17-56356502-A-G	MPO	c.752T>C	p.M251T	Missense	6/12	-
17-78086728-G-A	GAA	c.1942G>A	p.G648S	Missense	14/20	-
19-33355167-C-T	SLC7A9	c.313G>A	p.G105R	Missense	4/13	-
X-154221416-T-G	F8	c.396A>C	p.E132D	Missense	4/26	-
4-74274452-C-T	ALB	c.412C>T	p.R138*	Nonsense	4/15	-
7-30058726-T-TG	FKBP14	c.362_362dupC	p.E122Rfs*7	Frameshift	3/4	-
2-220081416-G-A	ABCB6	c.826C>T	p.R276W	Missense	3/19	-
5-131729380-G-A	SLC22A5	c.1463G>A	p.R488H	Missense	9/10	-
11-17418602-C-T	ABCC8	c.3989-9G>A	-	IntronicSNV	-	32/38
11-17418602-C-G	ABCC8	c.3989-9G>C	-	IntronicSNV	-	32/38
1-23233346-G-A	EPHB2	c.2032G>A	p.D678N	Missense	11/16	-
11-6645369-C-T	DCHS1	c.7538G>A	p.R2513H	Missense	21/21	-
14-75472570-G-T	EIF2B2	c.599G>T	p.G200V	Missense	5/8	-
1-35250943-G-A	GJB3	c.580G>A	p.A194T	Missense	2/2	-
5-112102960-C-T	APC	c.295C>T	p.R99W	Missense	4/16	-
2-220082504-C-T	ABCB6	c.575G>A	p.R192Q	Missense	2/19	-
2-220078006-C-T	ABCB6	c.1762G>A	p.G588S	Missense	12/19	-
17-56348226-T-G	MPO	c.2031-2A>C	-	IntronicSNV	-	11/11
3-132394747-G-A	UBA5	c.1111G>A	p.A371T	Missense	11/12	-
3-169485336-A-G	ACTRT3	c.1003T>C	p.S335P	Missense	2/2	-
12-57406650-T-C	TAC3	c.248A>G	p.H83R	Missense	5/7	-
15-80472572-G-A	FAH	c.1062+5G>A	-	IntronicSNV	-	12/13
1-215848678-C-T	USH2A	c.12575G>A	p.R4192H	Missense	63/72	-
4-996165-G-A	IDUA	c.1081G>A	p.A361T	Missense	8/14	-
2-219755011-T-A	WNT10A	c.682T>A	p.F228I	Missense	3/4	-
6-42935188-C-T	PEX6	c.1802G>A	p.R601Q	Missense	8/17	-
16-5128790-C-T	ALG1	c.773C>T	p.S258L	Missense	7/13	-
21-43808545-G-T	TMPRSS3	c.413C>A	p.A138E	Missense	5/13	-
3-183906916-C-T	ABCF3	c.1018C>T	p.R340W	Missense	10/21	-
12-98928103-C-T	TMPO	c.565+2487C>T	-	IntronicSNV	-	3/8
17-7577138-C-T	TP53	c.800G>A	p.R267Q	Missense	8/11	-
16-8891763-TC-T	PMM2	c.24delC	p.C9Afs*27	Frameshift	1/8	-
22-29121071-ATCT-A	CHEK2	c.483_485delAGA	p.E161del	InFrameDeletion	4/15	-
19-13008638-C-T	GCDH	c.1204C>T	p.R402W	Missense	11/12	-
2-234237188-C-T	SAG	c.577C>T	p.R193*	Nonsense	8/16	-
1-46726525-C-T	RAD54L	c.604C>T	p.R202C	Missense	7/18	-
19-13007063-G-C	GCDH	c.680G>C	p.R227P	Missense	8/12	-
17-4806002-A-G	CHRNE	c.103T>C	p.Y35H	Missense	2/12	-
15-65313871-G-A	MTFMT	c.626C>T	p.S209L	Missense	4/9	-
17-56355397-G-A	MPO	c.995C>T	p.A332V	Missense	7/12	-
16-31105945-C-A	VKORC1	c.106G>T	p.D36Y	Missense	1/3	-
2-110342776-C-T	SEPTIN10	c.340G>A	p.E114K	Missense	4/11	-
14-94780642-A-T	SERPINA6	c.344T>A	p.L115H	Missense	2/5	-
1-16458722-C-T	EPHA2	c.2162G>A	p.R721Q	Missense	13/17	-
2-219754840-C-T	WNT10A	c.511C>T	p.R171C	Missense	3/4	-
9-136501834-T-C	DBH	c.339+2T>C	-	IntronicSNV	-	1/11
12-103234177-C-T	PAH	c.1315+1G>A	-	IntronicSNV	-	12/12
17-40693092-C-T	NAGLU	c.889C>T	p.R297*	Nonsense	5/6	-
1-94466624-C-T	ABCA4	c.6320G>A	p.R2107H	Missense	46/50	-
15-45408056-T-C	DUOXA2	c.205+2T>C	-	IntronicSNV	-	2/5
15-72638575-C-A	HEXA	c.1421+1G>T	-	IntronicSNV	-	12/13
15-72638575-C-G	HEXA	c.1421+1G>C	-	IntronicSNV	-	12/13
8-43046697-G-T	HGSNAT	c.1209G>T	p.W403C	Missense	12/18	-
1-70881670-C-T	CTH	c.200C>T	p.T67I	Missense	2/12	-
1-100387136-T-TA	AGL	c.4529_4529dupA	p.Y1510*	Nonsense	34/34	-
1-94512565-C-T	ABCA4	c.2828G>A	p.R943Q	Missense	19/50	-
6-161127501-A-G	PLG	c.112A>G	p.K38E	Missense	2/19	-
12-103248932-C-T	PAH	c.688G>A	p.V230I	Missense	6/13	-
20-35559186-A-T	SAMHD1	c.602T>A	p.I201N	Missense	5/16	-
16-68856041-G-A	CDH1	c.1849G>A	p.A617T	Missense	12/16	-
11-134128923-C-G	ACAD8	c.512C>G	p.S171C	Missense	5/11	-
11-134131650-G-A	ACAD8	c.958G>A	p.A320T	Missense	9/11	-
4-187178437-G-A	KLKB1	c.1643G>A	p.C548Y	Missense	14/15	-
12-103234285-G-A	PAH	c.1208C>T	p.A403V	Missense	12/13	-
9-132581031-A-T	TOR1A	c.613T>A	p.F205I	Missense	3/5	-
12-103288671-A-G	PAH	c.194T>C	p.I65T	Missense	3/13	-
17-79767715-G-A	GCGR	c.118G>A	p.G40S	Missense	3/14	-
16-2348469-C-T	ABCA3	c.1814G>A	p.R605Q	Missense	15/33	-
8-55537560-C-T	RP1	c.1118C>T	p.T373I	Missense	4/4	-
9-100616939-C-G	FOXE1	c.743C>G	p.A248G	Missense	1/1	-
1-21889712-G-A	ALPL	c.407G>A	p.R136H	Missense	5/12	-
21-33039600-C-T	SOD1	c.269C>T	p.A90V	Missense	4/5	-
3-52022837-C-T	ACY1	c.1057C>T	p.R353C	Missense	14/15	-
X-66941751-C-G	AR	c.2395C>G	p.Q799E	Missense	6/8	-
8-145107390-C-T	OPLAH	c.3265G>A	p.V1089I	Missense	23/28	-
3-43474174-C-T	ANO10	c.1843G>A	p.D615N	Missense	12/13	-
17-59937223-G-C	BRIP1	c.139C>G	p.P47A	Missense	3/20	-
2-38298338-C-T	CYP1B1	c.1159G>A	p.E387K	Missense	3/3	-
11-22257752-G-T	ANO5	c.692G>T	p.G231V	Missense	8/22	-
1-115222237-T-A	AMPD1	c.959A>T	p.K287I	Missense	7/16	-
14-92403294-C-T	FBLN5	c.376G>A	p.V126M	Missense	4/11	-
7-107312627-C-T	SLC26A4	c.349C>T	p.L117F	Missense	4/21	-
5-223624-C-T	SDHA	c.91C>T	p.R31*	Nonsense	2/15	-
5-1253913-G-A	TERT	c.3329C>T	p.T1110M	Missense	16/16	-
12-64017904-C-T	DPY19L2	c.869G>A	p.R290H	Missense	8/22	-
19-57746411-C-G	AURKC	c.744C>G	p.Y248*	Nonsense	6/7	-
1-156848918-C-T	NTRK1	c.1810C>T	p.H604Y	Missense	15/17	-
14-75514138-C-A	MLH3	c.2221G>T	p.V741F	Missense	2/13	-
11-2181149-C-T	INS	c.266G>A	p.R89H	Missense	3/3	-
2-10188123-C-T	KLF11	c.659C>T	p.T220M	Missense	3/4	-
1-92941647-T-C	GFI1	c.1208A>G	p.K403R	Missense	7/7	-
5-179260777-C-T	SQSTM1	c.1160C>T	p.P387L	Missense	7/8	-
16-56865830-C-T	NUP93	c.1162C>T	p.R388W	Missense	11/22	-
15-72103931-G-A	NR2E3	c.227G>A	p.R76Q	Missense	2/9	-
X-120183030-T-G	GLUD2	c.1492T>G	p.S498A	Missense	1/1	-
11-27680107-G-A	BDNF	c.5C>T	p.T2I	Missense	2/2	-
1-94502756-G-A	ABCA4	c.3758C>T	p.T1253M	Missense	25/50	-
2-21229068-G-A	APOB	c.10672C>T	p.R3558C	Missense	26/29	-
7-48411787-A-C	ABCA13	c.10826A>C	p.H3609P	Missense	33/62	-
7-48626771-C-T	ABCA13	c.14527C>T	p.R4843C	Missense	57/62	-
2-241810850-G-C	AGXT	c.508G>C	p.G170R	Missense	4/11	-
11-36615075-G-A	RAG2	c.644C>T	p.T215I	Missense	2/2	-
2-109545744-C-T	EDAR	c.266G>A	p.R89H	Missense	4/12	-
7-107315415-G-T	SLC26A4	c.626G>T	p.G209V	Missense	6/21	-
7-107330570-A-G	SLC26A4	c.1151A>G	p.E384G	Missense	10/21	-
5-73981270-T-C	HEXB	c.185T>C	p.L62S	Missense	1/14	-
11-68701332-C-A	IGHMBP2	c.1488C>A	p.C496*	Nonsense	10/15	-
15-72642859-C-T	HEXA	c.805G>A	p.G269S	Missense	7/14	-
12-121416663-G-A	HNF1A	c.92G>A	p.G31D	Missense	1/10	-
1-94490550-C-T	ABCA4	c.4594G>A	p.D1532N	Missense	31/50	-
12-121437407-A-G	HNF1A	c.1745A>G	p.H582R	Missense	9/10	-
12-121437410-G-A	HNF1A	c.1748G>A	p.R583Q	Missense	9/10	-
10-69881254-A-G	MYPN	c.59A>G	p.Y20C	Missense	2/20	-
11-112099388-A-G	PTS	c.155A>G	p.N52S	Missense	2/6	-
10-69961675-G-A	MYPN	c.3583G>A	p.V1195M	Missense	18/20	-
1-236911044-C-T	ACTN2	c.1484C>T	p.T495M	Missense	13/21	-
2-98275354-G-A	ACTR1B	c.428C>T	p.A143V	Missense	5/11	-
12-103237484-G-A	PAH	c.1139C>T	p.T380M	Missense	11/13	-
21-43808633-G-A	TMPRSS3	c.325C>T	p.R109W	Missense	5/13	-
5-56777915-C-T	ACTBL2	c.620G>A	p.R207Q	Missense	1/1	-
13-52520508-G-A	ATP7B	c.2972C>T	p.T991M	Missense	13/21	-
13-51519581-G-A	RNASEH2B	c.529G>A	p.A177T	Missense	7/11	-
15-73616159-C-T	HCN4	c.2275G>A	p.V759I	Missense	8/8	-
19-33350838-G-A	SLC7A9	c.782C>T	p.P261L	Missense	8/13	-
17-61557773-A-G	ACE	c.731A>G	p.Y244C	Missense	5/25	-
1-215963510-C-T	USH2A	c.10073G>A	p.C3358Y	Missense	51/72	-
1-156107469-C-T	LMNA	c.1633C>T	p.R545C	Missense	10/12	-
7-117243663-C-T	CFTR	c.2735C>T	p.S912L	Missense	17/27	-
9-104189856-C-G	ALDOB	c.448G>C	p.A150P	Missense	5/9	-
9-104189780-G-T	ALDOB	c.524C>A	p.A175D	Missense	5/9	-
9-37783990-T-G	EXOSC3	c.395A>C	p.D132A	Missense	2/4	-
15-72642925-G-A	HEXA	c.739C>T	p.R247W	Missense	7/14	-
4-110681527-C-T	CFI	c.782G>A	p.G261D	Missense	6/13	-
2-241808314-C-A	AGXT	c.32C>A	p.P11H	Missense	1/11	-
16-16272711-C-T	ABCC6	c.2359G>A	p.V787I	Missense	18/31	-
4-104079848-C-T	CENPE	c.2797G>A	p.D933N	Missense	23/49	-
14-81528523-C-T	TSHR	c.202C>T	p.P68S	Missense	2/10	-
15-89866691-C-T	POLG	c.2209G>A	p.G737R	Missense	13/23	-
15-89866691-C-G	POLG	c.2209G>C	p.G737R	Missense	13/23	-
7-42007446-C-T	GLI3	c.2179G>A	p.G727R	Missense	14/15	-
9-139569202-T-A	AGPAT2	c.646A>T	p.K216*	Nonsense	5/6	-
7-107334918-T-G	SLC26A4	c.1334T>G	p.L445W	Missense	11/21	-
4-89034502-G-A	ABCG2	c.1147C>T	p.R383C	Missense	9/16	-
1-197396685-C-T	CRB1	c.2230C>T	p.R744*	Nonsense	7/12	-
17-7906488-CCTGCTT-C	GUCY2D	c.129_134delTCTGCT	p.L44_L45del	InFrameDeletion	2/20	-
11-68562328-C-T	CPT1A	c.823G>A	p.A275T	Missense	8/19	-
11-17470143-A-G	ABCC8	c.1252T>C	p.C418R	Missense	8/39	-
1-11082616-G-C	TARDBP	c.1150G>C	p.G384R	Missense	6/6	-
15-75185647-G-A	MPI	c.656G>A	p.R219Q	Missense	5/8	-
16-88902151-C-T	GALNS	c.740G>A	p.G247D	Missense	7/14	-
17-46024048-G-A	PNPO	c.686G>A	p.R229Q	Missense	7/7	-
17-46019139-A-T	PNPO	c.98A>T	p.D33V	Missense	1/7	-
3-57144258-T-G	IL17RD	c.392A>C	p.K131T	Missense	4/13	-
22-51063820-G-A	ARSA	c.1283C>T	p.P428L	Missense	8/8	-
3-57140161-G-A	IL17RD	c.572C>T	p.P191L	Missense	6/13	-
16-72048540-C-T	DHODH	c.403C>T	p.R135C	Missense	3/9	-
X-154091426-C-T	F8	c.6506G>A	p.R2169H	Missense	23/26	-
1-25889633-C-A	LDLRAP1	c.605C>A	p.S202Y	Missense	6/9	-
13-101763567-G-A	NALCN	c.2203C>T	p.R735*	Nonsense	19/44	-
7-92123810-CT-C	PEX1	c.2916delA	p.G973Afs*16	Frameshift	18/24	-
10-16960686-ATAACCTC-A	CUBN	c.6928_6934delGAGGTTA	p.E2310Cfs*3	Frameshift	45/67	-
8-145740367-CA-C	RECQL4	c.1573delT	p.C525Afs*33	Frameshift	9/22	-
15-90174856-T-C	KIF7	c.2981A>G	p.Q994R	Missense	15/19	-
1-52863445-C-T	ORC1	c.314G>A	p.R105Q	Missense	4/17	-
7-92132483-T-TA	PEX1	c.2097dupT	p.I700Yfs*42	Frameshift	13/24	-
16-57938727-G-GC	CNGB1	c.2544_2544dupG	p.L849Afs*3	Frameshift	26/33	-
2-58386913-C-CTAAT	FANCL	c.1114_1115insATTA	p.G372Dfs*2	Frameshift	14/14	-
19-57743437-TC-T	AURKC	c.145delC	p.L49Wfs*23	Frameshift	3/7	-
17-56350827-GGGGTTGGGTTCCAT-G	MPO	c.1555_1568del14	p.M519Pfs*21	Frameshift	9/12	-
21-43809151-TG-T	TMPRSS3	c.208delC	p.H70Tfs*19	Frameshift	4/13	-
15-72638920-G-GGATA	HEXA	c.1274_1277dup	p.Y427Ifs*5	Frameshift	11/14	-
2-15674726-G-GA	NBAS	c.686_686dup	p.S230Qfs*4	Frameshift	9/52	-
14-23890217-C-A	MYH7	c.3286G>T	p.D1096Y	Missense	26/40	-
10-124800121-C-T	ACADSB	c.443C>T	p.T148I	Missense	4/11	-
5-53751640-G-T	HSPB3	c.21G>T	p.R7S	Missense	1/1	-
15-73615912-G-A	HCN4	c.2522C>T	p.S841L	Missense	8/8	-
1-183532437-G-A	NCF2	c.1183C>T	p.R395W	Missense	13/15	-
18-12340333-T-C	AFG3L2	c.1847A>G	p.Y616C	Missense	15/17	-
16-3304158-C-T	MEFV	c.910G>A	p.G304R	Missense	2/10	-
14-92403402-C-T	FBLN5	c.268G>A	p.G90S	Missense	4/11	-
11-108012373-C-T	ACAT1	c.772C>T	p.R258C	Missense	8/12	-
1-156106048-C-T	LMNA	c.1201C>T	p.R401C	Missense	7/12	-
22-38528924-C-T	PLA2G6	c.991G>A	p.D331N	Missense	7/17	-
9-131085426-G-C	COQ4	c.202G>C	p.D68H	Missense	2/7	-
1-68895518-G-A	RPE65	c.1543C>T	p.R515W	Missense	14/14	-
1-68912520-C-T	RPE65	c.118G>A	p.G40S	Missense	3/14	-
11-124739931-C-T	ROBO3	c.733C>T	p.R245W	Missense	4/28	-
5-35867540-C-CA	IL7R	c.361_361dupA	p.I121Nfs*8	Frameshift	3/8	-
5-35072712-T-G	PRLR	c.508A>C	p.I170L	Missense	6/10	-
12-56118211-G-A	RDH5	c.839G>A	p.R280H	Missense	5/5	-
8-87645092-C-T	CNGB3	c.1208G>A	p.R403Q	Missense	11/18	-
16-31102655-G-A	VKORC1	c.292C>T	p.R98W	Missense	3/3	-
10-48416473-C-T	GDF2	c.221G>A	p.G74E	Missense	1/2	-
3-32181723-A-G	GPD1L	c.370A>G	p.I124V	Missense	4/8	-
2-38298092-G-A	CYP1B1	c.1405C>T	p.R469W	Missense	3/3	-
8-105436573-G-T	DPYS	c.1137C>A	p.S379R	Missense	7/10	-
16-2329071-G-A	ABCA3	c.4420C>T	p.R1474W	Missense	29/33	-
16-89598369-G-A	SPG7	c.1045G>A	p.G349S	Missense	8/17	-
12-21695522-T-G	GYS2	c.1553A>C	p.E518A	Missense	13/16	-
10-48414216-C-T	GDF2	c.652G>A	p.D218N	Missense	2/2	-
17-48761053-G-A	ABCC3	c.3890G>A	p.R1297H	Missense	27/31	-
22-50966041-C-T	TYMP	c.622G>A	p.V208M	Missense	5/10	-
7-40498796-C-T	SUGCT	c.1006C>T	p.R329W	Missense	11/14	-
3-32180100-G-A	GPD1L	c.247G>A	p.E83K	Missense	3/8	-
6-1611569-C-T	FOXC1	c.889C>T	p.P297S	Missense	1/1	-
22-24896179-G-C	UPB1	c.209G>C	p.R70P	Missense	2/10	-
22-24896224-C-A	UPB1	c.254C>A	p.A85E	Missense	2/10	-
17-76993427-CAG-C	CANT1	c.277_278delCT	p.L93Vfs*89	Frameshift	3/5	-
7-6042301-G-C	PMS2	c.354-34C>G	-	IntronicSNV	-	4/14
6-10557208-C-G	GCNT2	c.925+27139C>G	-	IntronicSNV	-	3/4
6-10557208-C-T	GCNT2	c.925+27139C>T	-	IntronicSNV	-	3/4
2-58386928-G-GTAAT	VRK2	c.*102_*105dup	-	3-UTRInsertion	13/13	-
2-26690102-C-T	OTOF	c.4228-1G>A	-	IntronicSNV	-	34/46
2-71795213-G-A	DYSF	c.2697+1G>A	-	IntronicSNV	-	25/55
2-71743371-CG-C	DYSF	c.951+1delG	-	Frameshift	-	9/55
2-98986540-G-A	CNGA3	c.101+1G>A	-	IntronicSNV	-	2/7
2-219679182-G-T	CYP27A1	c.1263+1G>T	-	IntronicSNV	-	7/8
2-234676583-G-T	UGT1A1	c.1084+1G>T	-	IntronicSNV	-	3/4
3-25775474-C-G	NGLY1	c.1150-1G>C	-	IntronicSNV	-	7/11
3-33156042-C-A	CRTAP	c.471+2C>A	-	IntronicSNV	-	1/6
3-33156042-C-G	CRTAP	c.471+2C>G	-	IntronicSNV	-	1/6
3-33156042-C-T	CRTAP	c.471+2C>T	-	IntronicSNV	-	1/6
3-100988418-C-A	IMPG2	c.829-1G>T	-	IntronicSNV	-	7/18
3-120371438-C-A	HGD	c.342+1G>T	-	IntronicSNV	-	5/13
3-120371438-C-T	HGD	c.342+1G>A	-	IntronicSNV	-	5/13
1-46658110-T-C	POMGNT1	c.1285-2A>G	-	IntronicSNV	-	15/21
5-176829461-C-A	F12	c.1681-1G>T	-	IntronicSNV	-	13/13
5-176829461-C-G	F12	c.1681-1G>C	-	IntronicSNV	-	13/13
5-176829461-C-T	F12	c.1681-1G>A	-	IntronicSNV	-	13/13
6-70991091-A-T	COL9A1	c.876+2T>A	-	IntronicSNV	-	8/37
8-90996752-C-T	NBN	c.37+1G>A	-	IntronicSNV	-	1/15
8-145541756-A-G	DGAT1	c.751+2T>C	-	IntronicSNV	-	8/16
2-26690102-C-A	OTOF	c.4228-1G>T	-	IntronicSNV	-	34/46
9-271626-G-C	DOCK8	c.54-1G>C	-	IntronicSNV	-	1/47
9-271626-G-T	DOCK8	c.54-1G>T	-	IntronicSNV	-	1/47
12-48525177-G-A	PFKM	c.237+1G>A	-	IntronicSNV	-	4/22
12-103234177-C-A	PAH	c.1315+1G>T	-	IntronicSNV	-	12/12
12-110002982-C-T	MMAB	c.291-1G>A	-	IntronicSNV	-	3/8
13-100955253-G-A	PCCA	c.1284+1G>A	-	IntronicSNV	-	14/23
14-74763035-C-A	ABCD4	c.542+1G>T	-	IntronicSNV	-	5/18
14-74763035-C-T	ABCD4	c.542+1G>A	-	IntronicSNV	-	5/18
14-74947404-C-T	NPC2	c.441+1G>A	-	IntronicSNV	-	4/4
15-28200303-C-A	OCA2	c.1842+1G>T	-	IntronicSNV	-	17/23
15-28200303-C-T	OCA2	c.1842+1G>A	-	IntronicSNV	-	17/23
15-72103821-A-C	NR2E3	c.119-2A>C	-	IntronicSNV	-	1/8
17-33904914-C-A	PEX12	c.126+1G>T	-	IntronicSNV	-	1/2
17-33904914-C-T	PEX12	c.126+1G>A	-	IntronicSNV	-	1/2
17-37828497-G-A	PGAP3	c.*559C>T	-	3-UTRSNV	8/8	-
17-45009566-G-A	GOSR2	c.336+1G>A	-	IntronicSNV	-	4/5
19-7710082-G-C	STXBP2	c.1247-1G>C	-	IntronicSNV	-	14/18
19-11311390-A-C	DOCK6	c.5939+2T>G	-	IntronicSNV	-	46/47
19-11311390-A-G	DOCK6	c.5939+2T>C	-	IntronicSNV	-	46/47
19-13010520-A-G	GCDH	c.*165A>G	-	3-UTRSNV	12/12	-
20-5966567-G-A	MCM8	c.1954-1G>A	-	IntronicSNV	-	15/18
21-19715821-A-C	TMPRSS15	c.1428+2T>G	-	IntronicSNV	-	12/24
22-51065593-C-T	ARSA	c.465+1G>A	-	IntronicSNV	-	2/7
4-95972859-G-A	BMPR1B	c.1-52717G>A	-	IntronicSNV	-	3/12
17-77755928-C-G	CBX2	c.288+328C>G	-	IntronicSNV	-	4/4
17-77755928-C-T	CBX2	c.288+328C>T	-	IntronicSNV	-	4/4
7-55270399-C-T	EGFR	c.3271+81C>T	-	IntronicSNV	-	27/27
22-45958823-C-T	FBLN1	c.1698-11568C>T	-	IntronicSNV	-	14/16
17-42328579-G-A	SLC4A1	c.2603C>T	p.P868L	Missense	19/20	-
19-5831840-C-T	FUT6	c.739G>A	p.E247K	Missense	3/3	-
2-220077985-C-T	ABCB6	c.1783G>A	p.V595M	Missense	12/19	-
6-10586904-C-T	GCNT2	c.926-34680C>T	-	IntronicSNV	-	3/4
3-158367833-G-A	GFM1	c.689+887G>A	-	IntronicSNV	-	5/17
10-134495372-G-T	INPP5A	c.307-8524G>T	-	IntronicSNV	-	4/15
7-95814326-G-A	SLC25A13	c.934-3C>T	-	IntronicSNV	-	9/17
7-95814326-G-T	SLC25A13	c.934-3C>A	-	IntronicSNV	-	9/17
18-53070927-G-A	TCF4	c.305-178C>T	-	IntronicSNV	-	5/19
2-220075140-C-A	ABCB6	c.2314G>T	p.V772F	Missense	17/19	-
4-89052998-G-T	ABCG2	c.335C>A	p.P112Q	Missense	4/16	-
7-100491451-G-C	ACHE	c.403C>G	p.P135A	Missense	2/5	-
9-131107830-T-G	SLC27A4	c.556+2T>G	-	IntronicSNV	-	3/12
10-13337608-T-C	PHYH	c.135-2A>G	-	IntronicSNV	-	2/8
10-124797364-G-A	ACADSB	c.303+1G>A	-	IntronicSNV	-	3/10
11-6638385-C-A	TPP1	c.509-1G>T	-	IntronicSNV	-	5/12
11-6638385-C-G	TPP1	c.509-1G>C	-	IntronicSNV	-	5/12
11-6638385-C-T	TPP1	c.509-1G>A	-	IntronicSNV	-	5/12
11-67816547-G-A	TCIRG1	c.1674-1G>A	-	IntronicSNV	-	14/19
11-71906793-T-C	FOLR1	c.493+2T>C	-	IntronicSNV	-	3/3
6-135754257-C-T	AHI1	c.2174G>A	p.W725*	Nonsense	16/29	-
2-219678877-C-T	CYP27A1	c.1151C>T	p.P384L	Missense	6/9	-
2-227892720-C-T	COL4A4	c.3979G>A	p.V1327M	Missense	42/48	-
10-12154929-G-A	DHTKD1	c.2185G>A	p.G729R	Missense	13/17	-
4-187195347-G-T	F11	c.403G>T	p.E135*	Nonsense	5/15	-
2-74177777-A-G	DGUOK	c.509A>G	p.Q170R	Missense	4/7	-
1-209799066-G-A	LAMB3	c.1903C>T	p.R635*	Nonsense	14/23	-
2-179320828-C-T	PJVK	c.499C>T	p.R167*	Nonsense	4/7	-
2-166626727-G-A	GALNT3	c.484C>T	p.R162*	Nonsense	2/11	-
15-43552349-C-A	TGM5	c.337G>T	p.G113C	Missense	3/13	-
13-113773012-G-A	F7	c.1025G>A	p.R342Q	Missense	8/8	-
2-85780566-C-T	GGCX	c.944G>A	p.W315*	Nonsense	8/15	-
13-113795286-G-A	F10	c.424G>A	p.E142K	Missense	5/8	-
3-48628154-G-A	COL7A1	c.1732C>T	p.R578*	Nonsense	14/119	-
19-49700017-G-A	TRPM4	c.2531G>A	p.G844D	Missense	17/25	-
7-6045633-A-G	PMS2	c.53T>C	p.I18T	Missense	2/15	-
19-49469093-G-A	FTL	c.169G>A	p.E57K	Missense	2/4	-
10-14968855-G-C	DCLRE1C	c.959C>G	p.S320C	Missense	11/14	-
8-95411725-T-G	RAD54B	c.1295A>C	p.E432A	Missense	8/15	-
10-50690821-G-A	ERCC6	c.2081C>T	p.P694L	Missense	10/21	-
11-68696783-C-T	IGHMBP2	c.1193C>T	p.A398V	Missense	8/15	-
1-46743589-C-G	RAD54L	c.1970C>G	p.S657C	Missense	17/18	-
19-45855574-G-A	ERCC2	c.2083C>T	p.R695C	Missense	22/23	-
19-45868311-G-A	ERCC2	c.466C>T	p.R156*	Nonsense	6/23	-
11-76869378-G-A	MYO7A	c.905G>A	p.R302H	Missense	9/49	-
19-50365057-T-TGTTGTCGATGGCGACCC	PNKP	c.1253_1269dup	p.T424Gfs*49	frameshift_variant	14/17	-
16-89833576-G-C	FANCA	c.2574C>G	p.S858R	Missense	27/43	-
1-94543278-G-A	ABCA4	c.1522C>T	p.R508C	Missense	11/50	-
1-94510248-C-G	ABCA4	c.2971G>A	p.G991R	Missense	20/50	-
16-20429586-G-C	ACSM5	c.410G>C	p.R137P	Missense	3/14	-
9-111617776-G-C	ACTL7B	c.435C>G	p.H145Q	Missense	1/1	-
9-111617776-G-T	ACTL7B	c.435C>A	p.H145Q	Missense	1/1	-
12-56487641-G-A	ERBB3	c.1574G>A	p.R525Q	Missense	13/28	-
18-19751656-G-A	GATA6	c.551G>A	p.S184N	Missense	2/7	-
2-234676872-C-T	UGT1A1	c.1091C>T	p.P364L	Missense	4/5	-
1-156846289-G-T	NTRK1	c.1730G>T	p.G577V	Missense	14/17	-
8-11405576-G-A	BLK	c.211G>A	p.A71T	Missense	4/13	-
X-55035701-C-T	ALAS2	c.1676G>A	p.R559H	Missense	11/11	-
20-62045527-C-G	KCNQ2	c.1545G>C	p.E515D	Missense	14/17	-
20-62045527-C-A	KCNQ2	c.1545G>T	p.E515D	Missense	14/17	-
22-41282458-G-A	XPNPEP3	c.731G>A	p.R244Q	Missense	4/10	-
9-104184181-G-C	ALDOB	c.1005C>G	p.N335K	Missense	9/9	-
1-45798472-T-C	MUTYH	c.455A>G	p.Y152C	Missense	7/16	-
11-47353666-G-T	MYBPC3	c.3771C>A	p.N1257K	Missense	33/35	-
11-47363546-C-T	MYBPC3	c.1786G>A	p.G596R	Missense	18/35	-
14-23888815-T-G	MYH7	c.3730A>C	p.N1244H	Missense	28/40	-
14-23894555-G-A	MYH7	c.2359C>T	p.R787C	Missense	21/40	-
13-52536002-A-T	ATP7B	c.1917T>A	p.H639Q	Missense	6/21	-
13-52536002-A-C	ATP7B	c.1917T>G	p.H639Q	Missense	6/21	-
15-48779598-C-T	FBN1	c.3374G>A	p.R1125Q	Missense	28/66	-
11-2606484-C-T	KCNQ1	c.1075C>T	p.Q359*	Nonsense	8/16	-
14-23897052-T-C	MYH7	c.1630A>G	p.T544A	Missense	16/40	-
1-43296522-G-C	ERMAP	c.169G>C	p.G57R	Missense	4/12	-
14-23899076-A-G	MYH7	c.1046T>C	p.M349T	Missense	12/40	-
14-23902299-C-T	MYH7	c.339G>A	p.M113I	Missense	4/40	-
3-46900985-C-T	MYL3	c.461G>A	p.R154H	Missense	4/7	-
X-38262948-G-C	OTC	c.618G>C	p.M206I	Missense	6/10	-
X-38262948-G-A	OTC	c.618G>A	p.M206I	Missense	6/10	-
X-38262948-G-T	OTC	c.618G>T	p.M206I	Missense	6/10	-
7-6036994-C-T	PMS2	c.766G>A	p.G256S	Missense	7/15	-
7-6038849-G-A	PMS2	c.595C>T	p.R199C	Missense	6/15	-
2-31754383-T-C	SRD5A2	c.689A>G	p.H230R	missense_variant	5/6	-
19-38934252-C-T	RYR1	c.325C>T	p.R109W	Missense	4/106	-
1-156104674-CGG-TGT	LMNA	c.718_720delCGGinsTGT	p.R240C	Missense	4/12	-
1-45798117-C-T	MUTYH	c.650G>A	p.R217H	Missense	9/16	-
1-12057420-G-A	MFN2	c.541G>A	p.V181M	Missense	6/19	-
19-38937350-G-T	RYR1	c.742G>T	p.G248W	Missense	9/106	-
1-237494193-C-T	RYR2	c.184C>T	p.L62F	Missense	3/105	-
1-237433884-C-T	RYR2	c.136C>T	p.L46F	Missense	2/105	-
16-2132500-G-A	TSC2	c.3878G>A	p.W1293*	Nonsense	32/42	-
16-2132501-G-A	TSC2	c.3879G>A	p.W1293*	Nonsense	32/42	-
1-11860307-C-T	MTHFR	c.548G>A	p.R183Q	Missense	4/12	-
1-12008092-C-T	PLOD1	c.136C>T	p.R46C	Missense	2/19	-
1-43395326-G-A	SLC2A1	c.805C>T	p.R269C	Missense	6/10	-
1-21546547-CCG-ACA	ECE1	c.2212_2214delCGGinsTGT	p.R738C	Missense	19/19	-
1-21546501-G-A	ECE1	c.2260C>T	p.R754C	Missense	19/19	-
1-23189553-G-T	EPHB2	c.835G>T	p.A279S	Missense	4/16	-
1-24122673-C-T	GALE	c.956G>A	p.G319E	Missense	11/12	-
1-24123212-T-C	GALE	c.770A>G	p.K257R	Missense	9/12	-
1-24144010-C-G	HMGCL	c.208G>C	p.V70L	Missense	3/9	-
1-26136244-G-C	SELENON	c.943G>C	p.G315R	Missense	7/13	-
1-46655211-C-T	POMGNT1	c.1814G>A	p.R605H	Missense	21/22	-
1-46655645-C-T	POMGNT1	c.1666G>A	p.D556N	Missense	20/22	-
1-26139254-G-C	SELENON	c.1358G>C	p.W453S	Missense	10/13	-
1-46656396-C-T	POMGNT1	c.1600G>A	p.D534N	Missense	18/22	-
1-47748036-G-C	STIL	c.1229C>G	p.P410R	Missense	11/17	-
1-53676037-C-T	CPT2	c.691C>T	p.R231W	Missense	4/5	-
1-55464998-G-A	BSND	c.139G>A	p.G47R	Missense	1/4	-
1-100672060-T-A	DBT	c.1150A>T	p.S384C	Missense	9/11	-
1-94476377-C-T	ABCA4	c.5693G>A	p.R1898H	Missense	40/50	-
1-55524222-C-T	PCSK9	c.1405C>T	p.R469W	Missense	9/12	-
1-57406638-G-A	C8B	c.1282C>T	p.R428*	Nonsense	9/12	-
1-63872032-T-C	ALG6	c.391T>C	p.Y131H	Missense	6/15	-
1-76198349-G-A	ACADM	c.139G>A	p.E47K	Missense	3/12	-
1-76198337-G-A	ACADM	c.127G>A	p.E43K	Missense	3/12	-
1-94520797-CAG-AAA	ABCA4	c.2455_2457delCTGinsTTT	p.L819F	Missense	16/50	-
1-94480221-G-C	ABCA4	c.5338C>G	p.P1780A	Missense	38/50	-
1-94487404-C-T	ABCA4	c.4771G>A	p.G1591R	Missense	33/50	-
1-94487490-A-G	ABCA4	c.4685T>C	p.I1562T	Missense	33/50	-
1-94495021-C-T	ABCA4	c.4519G>A	p.G1507R	Missense	30/50	-
1-94564443-CAC-GAT	ABCA4	c.673_675delGTGinsATC	p.V225I	Missense	6/50	-
1-161138933-C-G	PPOX	c.767C>G	p.P256R	Missense	7/13	-
1-161137805-C-G	PPOX	c.359C>G	p.P120R	Missense	5/13	-
1-94512602-C-T	ABCA4	c.2791G>A	p.V931M	Missense	19/50	-
1-94514477-G-A	ABCA4	c.2690C>T	p.T897I	Missense	18/50	-
1-94528142-A-C	ABCA4	c.1928T>G	p.V643G	Missense	13/50	-
1-100672060-T-C	DBT	c.1150A>G	p.S384G	Missense	9/11	-
1-115220086-C-T	AMPD1	c.1373G>A	p.R425H	Missense	10/16	-
1-115221116-C-A	AMPD1	c.930G>T	p.M310I	Missense	8/16	-
1-94568686-C-T	ABCA4	c.455G>A	p.R152Q	Missense	5/50	-
1-98293683-G-A	DPYD	c.220C>T	p.R74*	Nonsense	3/23	-
1-168014447-G-A	DCAF6	c.2240G>A	p.R747Q	Missense	16/22	-
2-31754489-C-T	SRD5A2	c.583G>A	p.G195S	missense_variant	5/6	-
2-44507944-AGA-TGG	SLC3A1	c.520_522delAGAinsTGG	p.R174W	Missense	2/10	-
2-44539746-C-T	SLC3A1	c.1354C>T	p.R452W	Missense	8/10	-
2-44502921-CGC-TGG	SLC3A1	c.247_249delCGCinsTGG	p.R83W	Missense	1/10	-
2-47273468-A-G	TTC7A	c.1817A>G	p.K606R	Missense	16/20	-
2-47277182-T-C	TTC7A	c.2014T>C	p.S672P	Missense	17/20	-
2-47221604-T-C	TTC7A	c.952T>C	p.S318P	Missense	7/20	-
2-47278953-T-C	TTC7A	c.2086T>C	p.S696P	Missense	18/20	-
2-55408742-C-T	CLHC1	c.1145G>A	p.R382Q	Missense	10/13	-
2-55874559-C-T	PNPT1	c.1525G>A	p.V509I	Missense	19/28	-
2-58388659-C-CATTA	FANCL	c.1017_1018insTAAT	p.E340*	Nonsense	12/14	-
2-152357937-G-A	NEB	c.23989C>T	p.R7997*	Nonsense	168/182	-
2-166797556-T-A	TTC21B	c.691A>T	p.T231S	Missense	6/29	-
2-166847979-T-C	SCN1A	c.5806A>G	p.K1936E	Missense	29/29	-
2-170068598-C-T	LRP2	c.6160G>A	p.D2054N	Missense	37/79	-
2-178879181-G-A	PDE11A	c.919C>T	p.R307*	Nonsense	2/20	-
2-179424743-G-A	TTN	c.86116C>T	p.R28706*	Nonsense	326/363	-
2-179500233-C-T	TTN	c.41818G>A	p.E13940K	Missense	227/363	-
2-179442805-C-T	TTN	c.68437G>A	p.E22813K	Missense	322/363	-
2-227872828-G-A	COL4A4	c.4715C>T	p.P1572L	Missense	47/48	-
2-228176554-C-T	COL4A3	c.4981C>T	p.R1661C	Missense	52/52	-
2-233388180-G-T	PRSS56	c.904G>T	p.V302F	Missense	8/13	-
2-233398797-G-A	CHRND	c.1204G>A	p.E402K	Missense	10/12	-
2-234669457-T-A	UGT1A1	c.524T>A	p.L175Q	Missense	1/5	-
2-234669607-T-G	UGT1A1	c.674T>G	p.V225G	Missense	1/5	-
3-32169650-G-A	GPD1L	c.130G>A	p.E44K	Missense	2/8	-
3-33109737-G-A	GLB1	c.442C>T	p.R148C	Missense	4/16	-
3-38518844-G-A	ACVR2B	c.119G>A	p.R40H	Missense	2/11	-
3-38592885-T-C	SCN5A	c.4975A>G	p.I1659V	Missense	28/28	-
3-38592936-T-C	SCN5A	c.4924A>G	p.I1642V	Missense	28/28	-
3-38603947-G-A	SCN5A	c.3919C>T	p.L1307F	Missense	22/28	-
3-38607975-CAG-AAA	SCN5A	c.3760_3762delCTGinsTTT	p.L1254F	Missense	21/28	-
3-39307160-C-T	CX3CR1	c.841G>A	p.V281I	Missense	2/2	-
3-43607165-C-T	ANO10	c.1273G>A	p.D425N	Missense	8/13	-
3-48603736-G-A	COL7A1	c.8371C>T	p.R2791W	Missense	114/119	-
3-133476698-A-G	TF	c.956A>G	p.H319R	Missense	8/17	-
3-133496032-G-A	TF	c.2012G>A	p.G671E	Missense	16/17	-
3-135975430-C-T	PCCB	c.337C>T	p.R113*	Nonsense	3/15	-
3-139071543-C-T	MRPS22	c.787C>T	p.R263C	Missense	6/8	-
3-148714111-G-C	GYG1	c.166G>C	p.D56H	Missense	3/8	-
3-148896396-C-G	CP	c.2684G>C	p.G895A	Missense	16/19	-
3-165548187-G-A	BCHE	c.635C>T	p.A212V	Missense	2/4	-
1-147380823-T-G	GJA8	c.741T>G	p.I247M	Missense	2/2	-
1-152285144-G-A	FLG	c.2218C>T	p.R740*	Nonsense	3/3	-
1-152286299-G-A	FLG	c.1063C>T	p.Q355*	Nonsense	3/3	-
1-152287839-C-A	FLG	c.94G>T	p.E32*	Nonsense	2/3	-
1-155264517-C-A	PKLR	c.721G>T	p.E241*	Nonsense	6/11	-
1-156146640-G-A	SEMA4A	c.2138G>A	p.R713Q	Missense	15/15	-
1-158632583-G-T	SPTA1	c.2373C>A	p.D791E	Missense	17/52	-
1-160011281-G-A	KCNJ10	c.1042C>T	p.R348C	Missense	2/2	-
1-198723433-T-C	PTPRC	c.3545T>C	p.L1182S	Missense	32/33	-
1-201337340-G-A	TNNT2	c.113C>T	p.A38V	Missense	6/17	-
1-216371836-C-A	USH2A	c.3902G>T	p.G1301V	Missense	18/72	-
1-220311332-G-A	IARS2	c.2122G>A	p.E708K	Missense	17/23	-
1-231406597-A-G	GNPAT	c.1373A>G	p.D458G	Missense	10/16	-
1-231408061-A-G	GNPAT	c.1526A>G	p.D509G	Missense	11/16	-
1-236998886-G-C	MTR	c.1228G>C	p.A410P	Missense	14/33	-
2-26705384-G-T	OTOF	c.1469C>A	p.P490Q	Missense	14/47	-
1-237058770-C-T	MTR	c.3518C>T	p.P1173L	Missense	31/33	-
1-237729972-C-T	RYR2	c.3320C>T	p.T1107M	Missense	28/105	-
2-1491613-C-T	TPO	c.1618C>T	p.R540*	Nonsense	10/17	-
2-1497783-C-G	TPO	c.1978C>G	p.Q660E	Missense	11/17	-
2-26688886-C-T	OTOF	c.4559G>A	p.R1520Q	Missense	37/47	-
2-26700309-C-T	OTOF	c.2381G>A	p.R794H	Missense	20/47	-
2-65237863-G-A	SLC1A4	c.766G>A	p.E256K	Missense	4/8	-
2-71058878-A-G	CD207	c.790T>C	p.W264R	Missense	5/6	-
2-71337204-G-A	MCEE	c.427C>T	p.R143C	Missense	3/3	-
2-71357342-CG-TA	MCEE	c.7_8delCGinsTA	p.R3*	Nonsense	1/3	-
2-71351575-G-A	MCEE	c.139C>T	p.R47*	Nonsense	2/3	-
2-71738977-G-A	DYSF	c.386G>A	p.G129E	Missense	5/56	-
2-71827854-G-A	DYSF	c.3779G>A	p.R1260H	Missense	34/56	-
2-71829924-A-G	DYSF	c.3946A>G	p.I1316V	Missense	36/56	-
2-179571356-G-A	TTN	c.29245C>T	p.Q9749*	Nonsense	102/363	-
2-71883359-A-C	DYSF	c.4694A>C	p.K1565T	Missense	43/56	-
2-71896321-G-A	DYSF	c.5626G>A	p.D1876N	Missense	50/56	-
2-74691832-G-A	MOGS	c.370C>T	p.Q124*	Nonsense	2/4	-
2-84670490-C-T	SUCLG1	c.236G>A	p.G79D	Missense	3/9	-
2-96930912-C-T	TMEM127	c.208G>A	p.D70N	Missense	2/4	-
2-113819727-C-T	IL36RN	c.142C>T	p.R48W	Missense	4/5	-
2-128179014-G-A	PROC	c.226G>A	p.V76M	Missense	3/9	-
2-179456541-T-C	TTN	c.60005A>G	p.D20002G	Missense	303/363	-
2-182423344-G-A	CERKL	c.769C>T	p.R257*	Nonsense	5/13	-
2-189963479-C-T	COL5A2	c.376G>A	p.G126S	Missense	5/54	-
2-202598100-T-A	ALS2	c.2479A>T	p.T827S	Missense	13/34	-
2-211465360-C-T	CPS1	c.1631C>T	p.T544M	Missense	15/38	-
2-215813331-C-T	ABCA12	c.7093G>A	p.D2365N	Missense	47/53	-
2-219526006-C-T	BCS1L	c.296C>T	p.P99L	Missense	2/8	-
2-219526571-C-T	BCS1L	c.550C>T	p.R184C	Missense	4/8	-
2-219678910-G-A	CYP27A1	c.1184G>A	p.R395H	Missense	6/9	-
2-219679439-C-G	CYP27A1	c.1435C>G	p.R479G	Missense	8/9	-
2-219747090-C-A	WNT10A	c.321C>A	p.C107*	Nonsense	2/4	-
2-219754966-G-A	WNT10A	c.637G>A	p.G213S	Missense	3/4	-
2-219754978-G-A	WNT10A	c.649G>A	p.D217N	Missense	3/4	-
2-219757826-A-C	WNT10A	c.1087A>C	p.N363H	Missense	4/4	-
2-238242176-G-C	COL6A3	c.9245C>G	p.P3082R	Missense	42/44	-
2-238245116-G-C	COL6A3	c.8627C>G	p.P2876R	Missense	40/44	-
2-238280504-C-T	COL6A3	c.4156G>A	p.E1386K	Missense	9/44	-
2-241808753-G-A	AGXT	c.332G>A	p.R111Q	Missense	2/11	-
3-9932435-CCGGCACCGA-C	JAGN1	c.35_43delCCGACGGCA	p.T12_G14del	InFrameDeletion	1/2	-
3-9971557-C-T	IL17RC	c.1132C>T	p.Q378*	Nonsense	13/19	-
3-9970030-C-T	IL17RC	c.919C>T	p.Q307*	Nonsense	11/19	-
3-9979308-G-A	CRELD1	c.320G>A	p.R107H	Missense	4/11	-
3-14200382-G-T	XPC	c.1001C>A	p.P334H	Missense	9/16	-
3-48621017-G-A	COL7A1	c.4373C>T	p.P1458L	Missense	41/119	-
3-49160649-G-T	LAMB2	c.4140C>A	p.N1380K	Missense	26/32	-
3-49568275-G-A	DAG1	c.331G>A	p.D111N	Missense	3/3	-
3-170198680-C-A	SLC7A14	c.1391G>T	p.C464F	Missense	7/8	-
3-172737276-C-T	SPATA16	c.848G>A	p.R283Q	Missense	4/11	-
1-115226899-C-A	AMPD1	c.567G>T	p.Q156H	Missense	5/16	-
3-181430719-G-A	SOX2	c.571G>A	p.A191T	Missense	1/1	-
3-183854445-G-A	EIF2B5	c.241G>A	p.E81K	Missense	2/16	-
1-115226911-C-A	AMPD1	c.555G>T	p.Q152H	Missense	5/16	-
1-115226911-C-G	AMPD1	c.456G>C	p.Q152H	Missense	5/16	-
1-116275561-G-C	CASQ2	c.567C>G	p.F189L	Missense	5/11	-
1-120286529-G-A	PHGDH	c.1468G>A	p.V490M	Missense	12/12	-
1-145415323-T-A	HJV	c.142T>A	p.S48T	Missense	3/4	-
2-31754489-C-G	SRD5A2	c.583G>C	p.G195R	missense_variant	5/6	-
4-647908-C-T	PDE6B	c.892C>T	p.Q298*	Nonsense	5/22	-
3-184071561-C-T	CLCN2	c.1744G>A	p.D582N	Missense	16/24	-
4-654379-C-T	PDE6B	c.1591C>T	p.R531*	Nonsense	12/22	-
4-5577974-G-A	EVC2	c.3265C>T	p.Q1089*	Nonsense	18/22	-
4-5586559-G-A	EVC2	c.2848C>T	p.R950W	Missense	17/22	-
4-5749953-C-T	EVC	c.1018C>T	p.R340*	Nonsense	8/21	-
4-5755524-G-A	EVC	c.1328G>A	p.R443Q	Missense	10/21	-
4-6303408-G-A	WFS1	c.1886G>A	p.R629Q	Missense	8/8	-
4-6303542-G-C	WFS1	c.2020G>C	p.G674R	Missense	8/8	-
4-6303717-G-A	WFS1	c.2195G>A	p.R732H	Missense	8/8	-
4-6303785-T-C	WFS1	c.2263T>C	p.C755R	Missense	8/8	-
4-68620023-G-T	GNRHR	c.31C>A	p.Q11K	Missense	1/3	-
4-70898903-G-A	HTN3	c.122G>A	p.R41Q	Missense	5/6	-
4-70897813-AG-CA	HTN3	c.91_92delAGinsCA	p.R31Q	Missense	4/6	-
4-70898922-T-A	HTN3	c.141T>A	p.Y47*	Nonsense	5/6	-
4-76489574-G-A	ODAPH	c.318G>A	p.W106*	Nonsense	2/2	-
4-104068584-T-C	CENPE	c.4063A>G	p.K1355E	Missense	29/49	-
4-106377875-G-A	PPA2	c.185C>T	p.P62L	Missense	2/12	-
4-114269433-A-G	ANK2	c.4373A>G	p.E1458G	Missense	36/46	-
3-184071510-C-T	CLCN2	c.1795G>A	p.D599N	Missense	16/24	-
4-114274737-CTG-ATC	ANK2	c.4963_4965delCTGinsATC	p.L1655I	Missense	38/46	-
4-120107298-A-G	MYOZ2	c.738A>G	p.I246M	Missense	6/6	-
4-159620245-C-T	ETFDH	c.1079C>T	p.A360V	Missense	9/13	-
4-159627430-C-T	ETFDH	c.1375C>T	p.H459Y	Missense	11/13	-
5-1272311-C-T	TERT	c.2371G>A	p.V791I	Missense	7/16	-
5-37816112-G-A	GDNF	c.277C>T	p.R93W	Missense	3/3	-
5-37834776-GCG-CCA	GDNF	c.121_123delCGCinsTGG	p.R41W	Missense	2/3	-
5-38925351-A-C	OSMR	c.2090A>C	p.K697T	Missense	15/18	-
5-39341369-A-C	C9	c.355T>G	p.C119G	Missense	4/11	-
5-39342214-G-T	C9	c.162C>A	p.C54*	Nonsense	2/11	-
5-40959622-C-A	C7	c.1561C>A	p.R521S	Missense	12/18	-
5-41862758-G-A	OXCT1	c.173C>T	p.T58M	Missense	2/17	-
5-70895499-G-C	MCCC2	c.295G>C	p.E99Q	Missense	4/17	-
3-193360597-A-C	OPA1	c.1193A>C	p.D398A	Missense	12/31	-
5-70936845-G-A	MCCC2	c.1015G>A	p.V339M	Missense	11/17	-
5-78351682-T-C	DMGDH	c.326A>G	p.H109R	Missense	3/16	-
5-70936895-A-T	MCCC2	c.1065A>T	p.L355F	Missense	11/17	-
5-70931025-G-T	MCCC2	c.951G>T	p.L317F	Missense	10/17	-
5-70931025-G-C	MCCC2	c.951G>C	p.L317F	Missense	10/17	-
5-74014629-C-T	HEXB	c.1250C>T	p.P417L	Missense	11/14	-
5-74014746-A-C	HEXB	c.1367A>C	p.Y456S	Missense	11/14	-
5-74842932-G-A	POLK	c.85G>A	p.E29K	Missense	1/14	-
5-78135214-T-G	ARSB	c.1178A>C	p.H393P	Missense	6/8	-
5-125885979-C-G	ALDH7A1	c.1324G>C	p.E442Q	Missense	15/18	-
5-125890020-C-G	ALDH7A1	c.1159G>C	p.E387Q	Missense	13/18	-
3-193353283-A-C	OPA1	c.920A>C	p.D307A	Missense	9/31	-
4-114288907-C-A	ANK2	c.11218C>A	p.L3740I	Missense	42/46	-
5-127674667-C-T	FBN2	c.3430G>A	p.E1144K	Missense	26/65	-
5-131705800-C-T	SLC22A5	c.136C>T	p.P46S	Missense	1/10	-
5-131714100-G-T	SLC22A5	c.424G>T	p.A142S	Missense	2/10	-
5-131722758-G-A	SLC22A5	c.866G>A	p.R289Q	Missense	5/10	-
5-131728202-T-G	SLC22A5	c.1345T>G	p.Y449D	Missense	8/10	-
5-136961507-T-C	KLHL3	c.1670A>G	p.Y557C	Missense	14/15	-
8-100832259-A-G	VPS13B	c.8903A>G	p.N2968S	Missense	49/62	-
5-176813232-GGTCCCCAAGCTGCGCCAGGCT-G	SLC34A1	c.272_292del21	p.V91_A97del	InFrameDeletion	4/13	-
5-177027249-G-A	B4GALT7	c.38G>A	p.W13*	Nonsense	1/6	-
5-177031208-C-T	B4GALT7	c.79C>T	p.R27W	Missense	2/6	-
5-177638965-T-A	PHYKPL	c.1310A>T	p.E437V	Missense	12/13	-
5-179248034-C-T	SQSTM1	c.98C>T	p.A33V	Missense	1/8	-
5-180045911-G-A	FLT4	c.2860C>T	p.P954S	Missense	21/30	-
6-5369353-G-A	FARS2	c.550G>A	p.D184N	Missense	2/7	-
6-7583814-G-C	DSP	c.6319G>C	p.V2107L	Missense	24/24	-
6-35980078-C-T	SLC26A8	c.260G>A	p.R87Q	Missense	3/20	-
6-42930887-C-A	GNMT	c.529C>A	p.H177N	Missense	4/6	-
6-43581755-A-G	POLH	c.1603A>G	p.K535E	Missense	11/11	-
6-49580247-C-T	RHAG	c.808G>A	p.V270I	Missense	6/10	-
6-51889474-C-T	PKHD1	c.5134G>A	p.G1712R	Missense	32/67	-
6-51920391-A-T	PKHD1	c.1830T>A	p.Y610*	Nonsense	19/67	-
6-57059615-A-T	RAB23	c.434T>A	p.L145*	Nonsense	5/7	-
6-72960710-G-A	RIMS1	c.2459G>A	p.R820H	Missense	14/34	-
6-74191932-G-A	MTO1	c.1430G>A	p.R477H	Missense	8/12	-
6-88228397-G-A	RARS2	c.1366C>T	p.R456C	Missense	16/20	-
6-107780215-T-G	PDSS2	c.275A>C	p.H92P	Missense	1/8	-
6-110012688-T-C	FIG4	c.50T>C	p.L17P	Missense	1/23	-
6-135639715-G-A	AHI1	c.3368C>T	p.S1123F	Missense	26/29	-
6-135644371-T-C	AHI1	c.3257A>G	p.E1086G	Missense	25/29	-
6-152771836-C-T	SYNE1	c.3319G>A	p.E1107K	Missense	27/146	-
6-152461162-C-T	SYNE1	c.25381G>A	p.E8461K	Missense	140/146	-
7-30671863-C-T	GARS1	c.1904C>T	p.S635L	Missense	16/17	-
7-44104839-C-T	PGAM2	c.290G>A	p.G97D	Missense	1/3	-
7-44104896-C-T	PGAM2	c.233G>A	p.W78*	Nonsense	1/3	-
7-65546812-G-A	ASL	c.35G>A	p.R12Q	Missense	3/17	-
7-65554101-A-G	ASL	c.857A>G	p.Q286R	Missense	12/17	-
7-66458286-C-G	SBDS	c.377G>C	p.R126T	Missense	3/5	-
7-83590853-G-A	SEMA3A	c.2150C>T	p.T717I	Missense	17/17	-
8-42977872-T-A	POMK	c.905T>A	p.V302D	Missense	5/5	-
7-87060844-C-T	ABCB4	c.1769G>A	p.R590Q	Missense	15/28	-
7-87082273-T-C	ABCB4	c.523A>G	p.T175A	Missense	6/28	-
7-94040411-G-A	COL1A2	c.1295G>A	p.R432Q	Missense	23/52	-
5-141693833-C-T	SPRY4	c.841G>A	p.V281I	Missense	2/2	-
7-99700562-C-G	AP4M1	c.330C>G	p.Y110*	Nonsense	4/15	-
7-100225917-C-T	TFR2	c.1403G>A	p.R468H	Missense	11/18	-
7-103281044-G-A	RELN	c.2015C>T	p.P672L	Missense	17/65	-
7-107302089-G-C	SLC26A4	c.3G>C	p.M1?	Missense	2/21	-
22-29115452-AGTC-A	CHEK2	c.612_614delGAC	p.T205del	InFrameDeletion	5/15	-
7-107329499-T-C	SLC26A4	c.1003T>C	p.F335L	Missense	9/21	-
7-107336408-A-C	SLC26A4	c.1468A>C	p.I490L	Missense	13/21	-
7-107342483-G-A	SLC26A4	c.2015G>A	p.G672E	Missense	17/21	-
7-117243829-G-T	CFTR	c.2901G>T	p.L967F	Missense	17/27	-
7-117243829-G-C	CFTR	c.2901G>C	p.L967F	Missense	17/27	-
7-138417791-A-G	ATP6V0A4	c.1739T>C	p.M580T	Missense	17/22	-
7-143021579-C-T	CLCN1	c.847C>T	p.L283F	Missense	7/23	-
7-143028358-G-A	CLCN1	c.1013G>A	p.R338Q	Missense	9/23	-
5-141694213-T-C	SPRY4	c.461A>G	p.K154R	Missense	2/2	-
5-149361189-G-T	SLC26A2	c.2033G>T	p.G678V	Missense	3/3	-
7-150648023-T-C	KCNH2	c.2131A>G	p.I711V	Missense	8/15	-
7-150878511-C-G	ASB10	c.619G>C	p.V207L	Missense	3/6	-
7-150884003-C-T	ASB10	c.215G>A	p.R72H	Missense	1/6	-
7-155596307-C-T	SHH	c.676G>A	p.A226T	Missense	3/3	-
8-10480384-G-A	RP1L1	c.328C>T	p.P110S	Missense	2/4	-
8-16026077-C-A	MSR1	c.520G>T	p.D174Y	Missense	4/10	-
8-31012139-GAC-G	WRN	c.3689_3690delCA	p.T1230Rfs*21	SpliceAcceptorDeletion	32/35	-
8-38282064-A-G	FGFR1	c.899T>C	p.I300T	Missense	7/18	-
9-136320496-C-A	ADAMTS13	c.3339C>A	p.C1113*	Nonsense	25/29	-
8-55372085-T-A	SOX17	c.775T>A	p.Y259N	Missense	2/2	-
8-55541461-T-G	RP1	c.5019T>G	p.Y1673*	Nonsense	4/4	-
8-67089624-G-C	CRH	c.89C>G	p.P30R	Missense	2/2	-
8-68396032-G-A	CPA6	c.809C>T	p.A270V	Missense	8/11	-
8-86392989-A-G	CA2	c.754A>G	p.N252D	Missense	7/7	-
8-87641222-A-C	CNGB3	c.1405T>G	p.Y469D	Missense	12/18	-
8-97157413-G-T	GDF6	c.746C>A	p.A249E	Missense	2/2	-
8-97172796-C-A	GDF6	c.125G>T	p.G42V	Missense	1/2	-
8-100887723-C-CGAT	VPS13B	c.11823_11824insGAT	p.H3941_L3942insD	InFrameInsertion	62/62	-
8-100887648-A-AGAT	VPS13B	c.11750_11752dup	p.D3917dup	InFrameInsertion	62/62	-
8-106813942-G-T	ZFPM2	c.1632G>T	p.M544I	Missense	8/8	-
8-106814279-A-G	ZFPM2	c.1969A>G	p.S657G	Missense	8/8	-
8-133141666-T-C	KCNQ3	c.2462A>G	p.N821S	Missense	15/15	-
8-133146616-G-A	KCNQ3	c.1720C>T	p.P574S	Missense	13/15	-
5-149502705-G-A	PDGFRB	c.2083C>T	p.R695C	Missense	15/23	-
8-133900495-G-A	TG	c.2443G>A	p.G815R	Missense	10/48	-
8-143956440-C-T	CYP11B1	c.1331G>A	p.G444D	Missense	8/9	-
8-143956502-A-C	CYP11B1	c.1269T>G	p.Y423*	Nonsense	8/9	-
8-145739460-A-G	RECQL4	c.1910T>C	p.F637S	Missense	12/22	-
9-12704564-C-T	TYRP1	c.1120C>T	p.R374*	Nonsense	6/8	-
9-12694246-A-T	TYRP1	c.250A>T	p.R84*	Nonsense	2/8	-
9-32984779-C-T	APTX	c.662G>A	p.W207*	Nonsense	6/8	-
9-32984778-C-T	APTX	c.621G>A	p.W207*	Nonsense	6/8	-
9-32974493-C-T	APTX	c.837G>A	p.W279*	Nonsense	7/8	-
9-34650438-A-G	GALT	c.1132A>G	p.I378V	Missense	11/11	-
9-36217526-C-T	GNE	c.2005G>A	p.G669R	Missense	12/12	-
9-36219976-C-T	GNE	c.1675G>A	p.G559R	Missense	10/12	-
9-36219976-C-G	GNE	c.1675G>C	p.G559R	Missense	10/12	-
6-24533845-G-C	ALDH5A1	c.1513G>C	p.G505R	Missense	10/10	-
9-36218221-G-A	GNE	c.1892C>T	p.A631V	Missense	11/12	-
5-150723155-C-A	SLC36A2	c.260G>T	p.G87V	Missense	3/10	-
9-36222845-G-A	GNE	c.1562C>T	p.A521V	Missense	9/12	-
9-36227394-C-A	GNE	c.1132G>T	p.D378Y	Missense	7/12	-
9-97864024-G-A	FANCC	c.1642C>T	p.R548*	Nonsense	15/15	-
9-97912338-G-A	FANCC	c.553C>T	p.R185*	Nonsense	7/15	-
9-123313096-C-G	CDK5RAP2	c.280G>C	p.G94R	Missense	4/38	-
9-126139229-G-A	CRB2	c.3746G>A	p.R1249Q	Missense	13/13	-
9-133333936-G-T	ASS1	c.323G>T	p.R108L	Missense	4/15	-
9-133355785-G-A	ASS1	c.787G>A	p.V263M	Missense	11/15	-
9-135202049-G-A	SETX	c.4936C>T	p.Q1646*	Nonsense	10/26	-
9-135205028-G-T	SETX	c.1957C>A	p.Q653K	Missense	10/26	-
9-135205178-T-C	SETX	c.1807A>G	p.N603D	Missense	10/26	-
9-136404923-G-A	ADAMTSL2	c.340G>A	p.E114K	Missense	5/19	-
9-138670668-G-A	KCNT1	c.2729G>A	p.R910Q	Missense	23/31	-
10-14977469-C-T	DCLRE1C	c.457G>A	p.G153R	Missense	6/14	-
10-14987109-G-A	DCLRE1C	c.241C>T	p.R81*	Nonsense	3/14	-
10-17113456-C-T	CUBN	c.2594G>A	p.S865N	Missense	19/67	-
10-27826978-T-A	RAB18	c.619T>A	p.*207Kext*20	Missense	7/7	-
10-27826978-T-C	RAB18	c.619T>C	p.*207Qext*20	Missense	7/7	-
10-50958895-T-A	OGDHL	c.886A>T	p.M296L	Missense	7/23	-
10-70645376-A-T	STOX1	c.1824A>T	p.E608D	Missense	3/4	-
10-72360648-C-T	PRF1	c.11G>A	p.R4H	Missense	2/3	-
10-73468926-C-T	CDH23	c.3178C>T	p.R1060W	Missense	27/70	-
10-73892817-T-C	ASCC1	c.869A>G	p.N290S	Missense	8/10	-
10-75860710-TTTG-T	VCL	c.1877_1879delTTG	p.F626_D627delinsY	MultiAAMissense	14/22	-
10-75871781-CTGT-C	VCL	c.2862_2864delGTT	p.L955del	InFrameDeletion	19/22	-
10-85960394-C-T	CDHR1	c.476C>T	p.A159V	Missense	6/17	-
10-99344567-C-T	HOGA1	c.107C>T	p.A36V	Missense	1/7	-
10-99361676-C-T	HOGA1	c.763C>T	p.R255*	Nonsense	6/7	-
10-100249808-CTT-C	HPSE2	c.1465_1466delAA	p.N489Pfs*126	SpliceDonorDeletion	10/12	-
11-5247914-C-T	HBB	c.208G>A	p.G70S	Missense	2/3	-
10-101595950-A-T	ABCC2	c.3517A>T	p.I1173F	Missense	25/32	-
10-101829514-C-T	CPN1	c.533G>A	p.G178D	Missense	3/9	-
10-102748875-G-A	TWNK	c.908G>A	p.R303Q	Missense	1/5	-
5-151202476-C-T	GLRA1	c.1108G>A	p.G370S	Missense	9/9	-
5-151208511-G-A	GLRA1	c.1030C>T	p.R344*	Nonsense	8/9	-
5-167937606-C-T	RARS1	c.1367C>T	p.S456L	Missense	12/15	-
11-36614367-C-G	RAG2	c.1352G>C	p.G451A	Missense	2/2	-
11-46747447-G-A	F2	c.598G>A	p.E200K	Missense	7/14	-
11-46748311-G-A	F2	c.1054G>A	p.E352K	Missense	9/14	-
11-47359047-C-T	MYBPC3	c.2497G>A	p.A833T	Missense	25/35	-
11-47463227-A-G	RAPSN	c.848T>C	p.L283P	Missense	5/8	-
11-61161437-G-T	TMEM216	c.218G>T	p.R73L	Missense	3/5	-
11-65307505-G-A	LTBP3	c.3364C>T	p.Q1122*	Nonsense	24/28	-
11-76895733-G-T	MYO7A	c.3476G>T	p.G1159V	Missense	27/49	-
11-76903205-T-TCTCCATGAGCAAACAGCGGGG	MYO7A	c.4036_4037insCCATGAGCAAACAGCGGGGCT	p.F1345_F1346insSMSKQRG	InFrameInsertion	31/49	-
11-76924956-A-ACCATGAGCAAACAGCGGGGCT	MYO7A	c.6490_6491insCCATGAGCAAACAGCGGGGCT	p.N2164delinsTMSKQRGY	MultiAAMissense	48/49	-
11-76924929-A-ACCATGAGCAAACAGCGGGGCT	MYO7A	c.6466_6467insTGAGCAAACAGCGGGGCTCCA	p.T2155_K2156insMSKQRGS	InFrameInsertion	48/49	-
11-76925703-G-GCCATGAGCAAACAGCGGGGCT	MYO7A	c.6614_6634dup	p.M2205_S2211dup	inframe_insertion	49/49	-
11-77838457-G-A	ALG8	c.121C>T	p.R41*	Nonsense	2/13	-
11-85347215-G-T	TMEM126B	c.635G>T	p.G212V	Missense	5/5	-
12-110023907-T-C	MVK	c.608T>C	p.V203A	Missense	6/11	-
12-56115631-C-T	RDH5	c.469C>T	p.R157W	Missense	3/5	-
12-81101832-G-T	MYF6	c.334G>T	p.A112S	Missense	1/3	-
12-88476854-C-A	CEP290	c.4966G>T	p.E1656*	Nonsense	37/54	-
12-89744637-T-C	DUSP6	c.566A>G	p.N189S	Missense	2/3	-
12-102164255-T-G	GNPTAB	c.1042A>C	p.I348L	Missense	9/21	-
12-103248972-G-C	PAH	c.648C>G	p.Y216*	Nonsense	6/13	-
12-106824181-T-A	POLR3B	c.1394T>A	p.V465E	Missense	14/28	-
12-109999603-C-T	MMAB	c.403G>A	p.A135T	Missense	5/9	-
14-24731434-G-T	TGM1	c.125C>A	p.S42Y	Missense	2/15	-
13-73409497-G-A	PIBF1	c.1214G>A	p.R405Q	Missense	9/18	-
13-77570143-T-C	CLN5	c.593T>C	p.L149P	Missense	3/4	-
13-95243122-C-A	TGDS	c.298G>T	p.A100S	Missense	4/12	-
3-52023042-G-A	ACY1	c.1178G>A	p.R393H	Missense	15/15	-
3-57232242-T-C	HESX1	c.541A>G	p.T181A	Missense	4/4	-
3-57272139-G-A	APPL1	c.280G>A	p.D94N	Missense	4/22	-
3-81695554-A-T	GBE1	c.771T>A	p.F257L	Missense	6/16	-
3-128627047-G-A	ACAD9	c.1298G>A	p.R433Q	Missense	13/18	-
3-128628253-C-T	ACAD9	c.1552C>T	p.R518C	Missense	15/18	-
11-5255582-C-A	HBD	c.82G>T	p.A28S	Missense	1/3	-
11-17531093-G-C	USH1C	c.1823C>G	p.P608R	Missense	18/27	-
11-18291302-G-A	SAA1	c.269G>A	p.G90D	Missense	4/4	-
11-18303533-G-A	HPS5	c.3293C>T	p.T1098I	Missense	22/23	-
11-19204266-G-A	CSRP3	c.536C>T	p.T179M	Missense	6/6	-
11-19207878-C-T	CSRP3	c.299G>A	p.R100H	Missense	4/6	-
11-22239808-A-G	ANO5	c.155A>G	p.N52S	Missense	4/22	-
11-66618639-C-T	PC	c.2095G>A	p.V699M	Missense	17/23	-
11-67258278-C-T	AIP	c.807C>T	p.F269=	Synonymous	6/6	-
11-67258382-G-A	AIP	c.911G>A	p.R304Q	Missense	6/6	-
11-67816350-G-A	TCIRG1	c.1559G>A	p.W520*	Nonsense	14/20	-
11-68174018-G-C	LRP5	c.1828G>C	p.G610R	Missense	9/23	-
11-68549252-G-A	CPT1A	c.1339C>T	p.R447*	Nonsense	11/19	-
11-68582864-C-T	CPT1A	c.79G>A	p.A27T	Missense	2/19	-
11-71155134-C-G	DHCR7	c.226G>C	p.V76L	Missense	4/9	-
11-72004653-G-A	CLPB	c.1792C>T	p.R598C	Missense	16/16	-
11-72013356-G-A	CLPB	c.1159C>T	p.R387*	Nonsense	10/16	-
11-72013383-T-C	CLPB	c.1132A>G	p.R378G	Missense	10/16	-
11-73716889-G-A	UCP3	c.427C>T	p.R143*	Nonsense	4/7	-
11-73717247-C-T	UCP3	c.304G>A	p.V102I	Missense	3/7	-
11-76853809-G-A	MYO7A	c.73G>A	p.G25R	Missense	3/49	-
11-76867946-A-G	MYO7A	c.631A>G	p.S211G	Missense	7/49	-
11-76873963-C-A	MYO7A	c.1619C>A	p.P540H	Missense	14/49	-
9-140082459-C-A	ANAPC2	c.214G>T	p.E72*	Nonsense	2/13	-
11-86663032-T-C	FZD4	c.766A>G	p.I256V	Missense	2/2	-
11-88961100-C-A	TYR	c.1146C>A	p.N382K	Missense	3/5	-
11-103191758-G-A	DYNC2H1	c.11726G>A	p.G3909D	Missense	81/89	-
11-108143299-A-G	ATM	c.3118A>G	p.M1040V	Missense	21/63	-
11-117222588-C-T	CEP164	c.277C>T	p.R93W	Missense	5/33	-
11-117859199-A-G	IL10RA	c.170A>G	p.Y57C	Missense	2/7	-
11-118039454-C-T	SCN2B	c.83G>A	p.R28Q	Missense	2/4	-
11-118897689-G-A	SLC37A4	c.742C>T	p.Q248*	Missense	7/11	-
12-110019280-T-C	MVK	c.452T>C	p.V151A	Missense	5/11	-
11-118962156-G-A	HMBS	c.532G>A	p.D178N	Missense	9/14	-
11-128709126-A-G	KCNJ1	c.1013T>C	p.M338T	Missense	3/3	-
12-2659186-G-A	CACNA1C	c.1468G>A	p.G490R	Missense	10/47	-
12-6125802-A-T	VWF	c.5191T>A	p.S1731T	Missense	30/52	-
12-6458350-A-G	SCNN1A	c.1477T>C	p.W493R	Missense	10/13	-
12-7842773-G-A	GDF3	c.796C>T	p.R266C	Missense	2/2	-
12-12334271-C-T	LRP6	c.1079G>A	p.R360H	Missense	6/23	-
12-32994103-T-C	PKP2	c.1415A>G	p.K472R	Missense	6/13	-
12-49445189-TGGCTCCTCAGGCCGGGGGGACAGGTGC-T	KMT2D	c.2250_2276del27	p.R755_P763del	InFrameDeletion	11/55	-
12-52760957-C-T	KRT85	c.233G>A	p.R78H	Missense	1/9	-
12-52965165-A-G	KRT74	c.821T>C	p.F274S	Missense	4/9	-
12-53703408-A-G	AAAS	c.787T>C	p.S263P	Missense	8/16	-
12-53715207-G-T	AAAS	c.43C>A	p.Q15K	Missense	1/16	-
14-24729786-GAC-CAT	TGM1	c.625_627delGTCinsATG	p.V209M	Missense	4/15	-
15-65793031-G-C	DPP8	c.459C>G	p.Y153*	Nonsense	4/20	-
12-121176971-C-T	ACADS	c.1058C>T	p.S353L	Missense	9/10	-
12-121177117-G-A	ACADS	c.1105G>A	p.G369S	Missense	10/10	-
12-121177169-G-A	ACADS	c.1157G>A	p.R386H	Missense	10/10	-
12-121432080-C-G	HNF1A	c.827C>G	p.A276G	Missense	4/10	-
12-121435391-C-T	HNF1A	c.1424C>T	p.P475L	Missense	7/10	-
13-20763366-C-T	GJB2	c.355G>A	p.E119K	Missense	2/2	-
13-20763710-C-T	GJB2	c.11G>A	p.G4D	Missense	2/2	-
19-11224362-A-G	LDLR	c.1510A>G	p.K504E	Missense	10/18	-
13-23909622-G-T	SACS	c.8393C>A	p.P2798Q	Missense	10/10	-
13-24380133-C-T	MIPEP	c.1804G>A	p.E602K	Missense	16/19	-
13-25458581-A-ATTC	CENPJ	c.3495_3497dup	p.K1165dup	InFrameInsertion	14/17	-
13-28498711-C-T	PDX1	c.725C>T	p.P242L	Missense	2/2	-
13-37583420-G-C	EXOSC8	c.815G>C	p.S272T	Missense	11/11	-
13-48523626-C-A	SUCLA2	c.1220G>T	p.R407L	Missense	9/11	-
13-52520433-T-G	ATP7B	c.3047A>C	p.E1016A	Missense	13/21	-
13-52520427-G-A	ATP7B	c.3053C>T	p.A1018V	Missense	13/21	-
16-1841712-T-TTGCGCAGGC	IGFALS	c.706_707insGCCTGCGCA	p.A235_N236insSLR	InFrameInsertion	2/2	-
14-21161845-A-T	ANG	c.122A>T	p.K41I	Missense	2/2	-
14-21161931-A-G	ANG	c.208A>G	p.I70V	Missense	2/2	-
14-21762904-C-T	RPGRIP1	c.154C>T	p.R52*	Nonsense	3/25	-
14-21790040-G-T	RPGRIP1	c.1639G>T	p.A547S	Missense	14/25	-
14-21811196-A-G	RPGRIP1	c.3341A>G	p.D1114G	Missense	22/25	-
14-21788188-A-G	RPGRIP1	c.1319A>G	p.D440G	Missense	12/25	-
14-24724663-C-T	TGM1	c.1552G>A	p.V518M	Missense	11/15	-
10-48416429-T-G	GDF2	c.265A>C	p.M89L	Missense	1/2	-
14-74759326-T-C	ABCD4	c.956A>G	p.Y319C	Missense	10/19	-
14-74946991-C-T	NPC2	c.442G>A	p.V148I	Missense	5/5	-
14-74953107-C-T	NPC2	c.115G>A	p.V39M	Missense	2/5	-
14-76211872-C-T	TTLL5	c.1435C>T	p.R479*	Nonsense	17/32	-
14-77745107-T-C	POMT2	c.1997A>G	p.Y666C	Missense	19/21	-
14-81558891-C-G	TSHR	c.484C>G	p.P162A	Missense	6/10	-
15-40457337-C-T	BUB1B	c.119C>T	p.T40M	Missense	2/23	-
14-81609572-T-G	TSHR	c.1170T>G	p.C390W	Missense	10/10	-
14-88431926-T-C	GALC	c.956A>G	p.Y319C	Missense	9/17	-
14-88434700-T-C	GALC	c.887A>G	p.Y296C	Missense	8/17	-
14-88452941-T-C	GALC	c.334A>G	p.T112A	Missense	4/17	-
14-92472218-T-C	TRIP11	c.2102A>G	p.N701S	Missense	11/21	-
14-92472221-T-C	TRIP11	c.2099A>G	p.N700S	Missense	11/21	-
14-95085642-C-G	SERPINA3	c.754C>G	p.P252A	Missense	3/5	-
15-40494810-G-A	BUB1B	c.1649G>A	p.R550Q	Missense	14/23	-
15-40702898-G-A	IVD	c.367G>A	p.G120R	Missense	4/12	-
15-40702955-C-T	IVD	c.424C>T	p.R139C	Missense	4/12	-
15-40707653-C-T	IVD	c.941C>T	p.A311V	Missense	9/12	-
15-41689256-A-G	NDUFAF1	c.2T>C	p.M1?	Missense	2/5	-
15-42676690-G-A	CAPN3	c.319G>A	p.E107K	Missense	2/24	-
15-42691746-C-T	CAPN3	c.1250C>T	p.T417M	Missense	10/24	-
15-74481585-T-G	STRA6	c.961A>C	p.T321P	Missense	12/19	-
15-58855748-C-T	LIPC	c.1214C>T	p.T405M	Missense	8/9	-
15-72637803-G-A	HEXA	c.1510C>T	p.R504C	Missense	13/14	-
15-72637858-C-A	HEXA	c.1455G>T	p.W485C	Missense	13/14	-
15-72637858-C-G	HEXA	c.1455G>C	p.W485C	Missense	13/14	-
15-72637891-C-G	HEXA	c.1422G>C	p.W474C	Missense	13/14	-
15-72641566-CCC-GCT	HEXA	c.838_840delGGGinsAGC	p.G280S	Missense	8/14	-
15-74472461-C-T	STRA6	c.1964G>A	p.R655H	Missense	19/19	-
19-45864872-G-C	ERCC2	c.1147C>G	p.L383V	Missense	12/23	-
15-74483230-G-A	STRA6	c.878C>T	p.P293L	Missense	11/19	-
15-74635368-C-T	CYP11A1	c.940G>A	p.E314K	Missense	5/9	-
15-80472526-C-T	FAH	c.1021C>T	p.R341W	Missense	12/14	-
15-85186799-G-A	WDR73	c.1039C>T	p.H347Y	Missense	8/8	-
16-1412062-CCAA-C	GNPTG	c.347_349delACA	p.N116del	InFrameDeletion	6/11	-
16-1657188-TGGACAG-T	IFT140	c.74_79delCTGTCC	p.P25_V26del	InFrameDeletion	3/31	-
16-1621516-AGGAGTT-A	IFT140	c.1538_1543delAACTCC	p.Q513_L514del	InFrameDeletion	14/31	-
16-1642177-C-G	IFT140	c.634G>C	p.G212R	Missense	6/31	-
17-6329049-ACGGCTCCAGCTC-A	AIPL1	c.874_885del12	p.E292_P295del	InFrameDeletion	6/6	-
16-57957231-G-C	CNGB1	c.1589C>G	p.P530R	Missense	18/33	-
16-70548253-G-A	COG4	c.529C>T	p.R177*	Nonsense	4/19	-
16-81298282-C-T	BCO1	c.509C>T	p.T170M	Missense	5/11	-
16-88800060-C-T	PIEZO1	c.2423G>A	p.R808Q	Missense	18/51	-
16-88800139-C-T	PIEZO1	c.2344G>A	p.G782S	Missense	18/51	-
16-89169073-C-T	ACSF3	c.728C>T	p.P243L	Missense	4/11	-
16-89211719-C-T	ACSF3	c.1411C>T	p.R471W	Missense	9/11	-
17-6329058-GCTCCAGCACTTT-G	AIPL1	c.865_876del12	p.K289_E292del	InFrameDeletion	6/6	-
16-89220556-C-T	ACSF3	c.1672C>T	p.R558W	Missense	11/11	-
16-89245959-C-T	CDH15	c.178C>T	p.R60C	Missense	2/14	-
16-89599025-G-T	SPG7	c.1305G>T	p.Q435H	Missense	9/17	-
16-89620349-T-C	SPG7	c.2084T>C	p.L695P	Missense	15/17	-
17-3550800-G-A	CTNS	c.124G>A	p.V42I	Missense	4/12	-
17-4925475-C-T	KIF1C	c.2099C>T	p.P700L	Missense	22/23	-
17-4926868-C-T	KIF1C	c.2734C>T	p.R912W	Missense	23/23	-
17-6328875-G-A	AIPL1	c.1060C>T	p.P354S	Missense	6/6	-
17-6328809-G-A	AIPL1	c.1126C>T	p.P376S	Missense	6/6	-
18-31320169-T-G	ASXL3	c.2801T>G	p.L934*	Nonsense	11/12	-
17-7123838-C-T	ACADVL	c.194C>T	p.P65L	Missense	3/20	-
17-7125504-GGCC-G	ACADVL	c.761_763delGCC	p.G254_L255delinsV	MultiAAMissense	9/20	-
17-7125569-AAGG-A	ACADVL	c.829_831delGAG	p.E277del	InFrameDeletion	9/20	-
17-7125996-GAGA-G	ACADVL	c.896_898delAGA	p.K299del	InFrameDeletion	10/20	-
17-7124977-AAAT-A	ACADVL	c.600_602delATA	p.K200_Y201delinsN	MultiAAMissense	7/20	-
17-7125525-T-C	ACADVL	c.782T>C	p.V261A	Missense	9/20	-
17-7127562-G-A	ACADVL	c.1532G>A	p.R511Q	Missense	15/20	-
17-7128292-G-A	ACADVL	c.1844G>A	p.R615Q	Missense	20/20	-
17-17118598-C-T	FLCN	c.1333G>A	p.A445T	Missense	12/14	-
1-179966166-C-T	CEP350	c.874C>T	p.Q292*	Nonsense	6/38	-
17-7979005-T-C	ALOX12B	c.1562A>G	p.Y521C	Missense	12/15	-
17-8790433-G-A	PIK3R5	c.1885C>T	p.P629S	Missense	12/19	-
17-12896274-C-T	ELAC2	c.2342G>A	p.R781H	Missense	24/24	-
17-12899902-C-T	ELAC2	c.1621G>A	p.A541T	Missense	17/24	-
17-12899905-C-T	ELAC2	c.1618G>A	p.A540T	Missense	17/24	-
17-12901748-C-T	ELAC2	c.1501G>A	p.A501T	Missense	16/24	-
17-16220000-T-C	PIGL	c.500T>C	p.L167P	Missense	5/7	-
17-37840962-G-A	PGAP3	c.320C>T	p.S107L	Missense	3/8	-
17-39998527-A-C	KLHL10	c.647A>C	p.Q216P	Missense	2/5	-
17-42463054-G-C	ITGA2B	c.439C>G	p.L147V	Missense	4/30	-
17-59821793-CTT-C	BRIP1	c.2255_2256delAA	p.K752Rfs*12	SpliceDonorDeletion	15/20	-
17-72305484-G-A	DNAI2	c.1304G>A	p.W435*	Nonsense	10/14	-
17-73518081-G-T	TSEN54	c.919G>T	p.A307S	Missense	8/11	-
18-3457439-A-T	TGIF1	c.320A>T	p.Q107L	Missense	3/3	-
18-3457570-A-G	TGIF1	c.451A>G	p.T151A	Missense	3/3	-
18-20548818-C-T	RBBP8	c.298C>T	p.R100W	Missense	5/19	-
18-28648997-GTCC-G	DSC2	c.2368_2370delGGA	p.G790del	InFrameDeletion	15/16	-
18-29116222-A-C	DSG2	c.1481A>C	p.D494A	Missense	11/15	-
18-33793365-C-T	MOCOS	c.1255C>T	p.R419*	Nonsense	7/15	-
18-61654237-C-T	SERPINB8	c.850C>T	p.R284*	Nonsense	7/7	-
19-5896466-C-A	NDUFA11	c.311G>T	p.R104L	Missense	3/4	-
19-11240345-C-T	LDLR	c.2546C>T	p.S849L	Missense	17/18	-
19-11488727-T-C	EPOR	c.1460A>G	p.N487S	Missense	8/8	-
19-16601330-T-C	CALR3	c.245A>G	p.K82R	Missense	3/9	-
19-17927755-G-A	INSL3	c.304C>T	p.R102C	Missense	2/2	-
19-30193654-T-C	C19orf12	c.391A>G	p.K131E	Missense	3/3	-
19-33353033-T-C	SLC7A9	c.695A>G	p.Y232C	Missense	6/13	-
19-34262922-C-T	CHST8	c.229C>T	p.R77W	Missense	5/5	-
19-36497493-C-T	SYNE4	c.699G>A	p.W233*	Nonsense	5/8	-
19-38897643-C-T	FAM98C	c.844C>T	p.R282*	Nonsense	7/8	-
19-39002893-T-C	RYR1	c.9242T>C	p.M3081T	Missense	63/106	-
19-39034444-C-T	RYR1	c.11941C>T	p.H3981Y	Missense	87/106	-
19-45452024-A-C	APOC2	c.122A>C	p.K41T	Missense	3/4	-
19-45452080-G-A	APOC2	c.178G>A	p.E60K	Missense	3/4	-
19-45452429-A-C	APOC2	c.229A>C	p.K77Q	Missense	4/4	-
19-45855507-G-C	ERCC2	c.2150C>G	p.A717G	Missense	22/23	-
19-45856059-C-G	ERCC2	c.1847G>C	p.R616P	Missense	20/23	-
19-45856397-C-G	ERCC2	c.1775G>C	p.R592P	Missense	19/23	-
19-45860626-G-C	ERCC2	c.1381C>G	p.L461V	Missense	15/23	-
19-45912070-A-G	POLR1G	c.844A>G	p.T282A	Missense	3/3	-
19-46271631-C-T	SIX5	c.472G>A	p.A158T	Missense	1/3	-
19-49564639-G-A	NTF4	c.616C>T	p.R206W	Missense	2/2	-
19-49686146-G-A	TRPM4	c.1575G>A	p.W525*	Nonsense	11/25	-
19-50747534-G-T	MYH14	c.1150G>T	p.G384C	Missense	11/43	-
19-51411852-C-T	KLK4	c.458G>A	p.W153*	Nonsense	3/5	-
19-55667971-C-T	TNNI3	c.150G>A	p.K50=	Synonymous	4/8	-
22-29130662-ACTG-A	CHEK2	c.45_47delCAG	p.S16del	InFrameDeletion	2/15	-
20-741709-G-C	SLC52A3	c.1371C>G	p.F457L	Missense	5/5	-
20-744167-A-T	SLC52A3	c.1048T>A	p.L350M	Missense	3/5	-
20-5294763-G-A	PROKR2	c.253C>T	p.R85C	Missense	2/3	-
20-13765892-G-A	NDUFAF5	c.178G>A	p.A60T	Missense	1/11	-
20-18505200-G-T	SEC23B	c.490G>T	p.V164L	Missense	5/20	-
20-18505624-C-T	SEC23B	c.649C>T	p.R217*	Nonsense	6/20	-
20-30232603-G-A	COX4I2	c.412G>A	p.E138K	Missense	5/5	-
20-30408160-C-A	MYLK2	c.284C>A	p.A95E	Missense	3/13	-
20-33519830-G-A	GSS	c.941C>T	p.P314L	Missense	10/13	-
20-35563451-G-A	SAMHD1	c.490C>T	p.R164*	Nonsense	4/16	-
20-43255231-CC-AT	ADA	c.227_228delGGinsAT	p.R76H	Missense	4/12	-
20-43251694-C-T	ADA	c.632G>A	p.R211H	Missense	7/12	-
20-48140626-C-T	PTGIS	c.824G>A	p.R275Q	Missense	6/10	-
20-52775614-G-A	CYP24A1	c.1039C>T	p.Q347*	Nonsense	8/12	-
21-19685292-G-C	TMPRSS15	c.2135C>G	p.S712*	Nonsense	18/25	-
21-37833693-C-T	CLDN14	c.301G>A	p.G101R	Missense	2/2	-
21-43795829-A-G	TMPRSS3	c.1340T>C	p.M447T	Missense	12/13	-
22-29120977-TTAG-T	CHEK2	c.577_579delCTA	p.L193del	InFrameDeletion	4/15	-
22-29121042-TGTA-T	CHEK2	c.513_515delTAC	p.N171_T172delinsK	MultiAAMissense	4/15	-
22-29121233-T-C	CHEK2	c.442A>G	p.R148G	Missense	3/15	-
22-40760969-G-A	ADSL	c.1277G>A	p.R426H	Missense	12/13	-
22-40761031-T-C	ADSL	c.1339T>C	p.S447P	Missense	12/13	-
22-41574281-TGCAACAGCAGCA-T	EP300	c.6574_6585del12	p.Q2192_Q2195del	InFrameDeletion	31/31	-
22-42457043-C-T	NAGA	c.986G>A	p.R329Q	Missense	8/9	-
22-42457056-C-T	NAGA	c.973G>A	p.E325K	Missense	8/9	-
22-42463140-G-C	NAGA	c.479C>G	p.S160C	Missense	4/9	-
22-50518820-G-A	MLC1	c.274C>T	p.P92S	Missense	4/12	-
22-50893287-T-C	SBF1	c.4768A>G	p.T1590A	Missense	35/41	-
22-50966140-C-T	TYMP	c.523G>A	p.V175M	Missense	5/10	-
22-50967020-C-T	TYMP	c.437G>A	p.R146H	Missense	4/10	-
22-51064461-T-A	ARSA	c.1010A>T	p.D337V	Missense	6/8	-
22-51065121-T-A	ARSA	c.752A>T	p.D251V	Missense	4/8	-
X-2871204-C-G	ARSL	c.410G>C	p.G137A	Missense	5/11	-
X-19375782-A-C	PDHA1	c.844A>C	p.M282L	Missense	9/11	-
X-19362156-A-C	PDHA1	c.1A>C	p.M1?	Missense	1/11	-
X-19362156-A-T	PDHA1	c.1A>T	p.M1?	Missense	1/11	-
X-31496398-T-C	DMD	c.8762A>G	p.H2921R	Missense	59/79	-
X-31496426-T-C	DMD	c.8734A>G	p.N2912D	Missense	59/79	-
X-31496431-T-A	DMD	c.8729A>T	p.E2910V	Missense	59/79	-
X-31496434-T-A	DMD	c.8726A>T	p.E2909V	Missense	59/79	-
X-43817783-G-A	NDP	c.109C>T	p.R37*	Nonsense	2/3	-
2-9645428-G-A	ADAM17	c.1411C>T	p.Q471*	Nonsense	12/19	-
X-48386663-C-T	EBP	c.511C>T	p.R171C	Missense	5/5	-
X-50653985-C-T	BMP15	c.202C>T	p.R68W	Missense	1/2	-
X-50658966-G-A	BMP15	c.538G>A	p.A180T	Missense	2/2	-
X-66931295-C-A	AR	c.1937C>A	p.A646D	Missense	4/8	-
X-68836358-G-T	EDA	c.206G>T	p.R69L	Missense	1/8	-
X-69255284-G-A	EDA	c.1001G>A	p.R334H	Missense	8/8	-
X-76856021-T-C	ATRX	c.5579A>G	p.N1860S	Missense	23/35	-
X-84563194-C-T	POF1B	c.986G>A	p.R329Q	Missense	10/17	-
X-105278284-T-A	SERPINA7	c.986A>T	p.Y329F	Missense	4/5	-
X-105280479-C-T	SERPINA7	c.571G>A	p.D191N	Missense	2/5	-
X-119005968-G-C	NDUFA1	c.94G>C	p.G32R	Missense	1/3	-
X-136649499-C-G	ZIC3	c.649C>G	p.P217A	Missense	1/3	-
12-53703020-G-A	AAAS	c.856C>T	p.R286*	Nonsense	9/16	-
7-121718973-G-A	AASS	c.2428C>T	p.Q810*	Nonsense	22/24	-
7-87069674-A-T	ABCB4	c.1401T>A	p.Y467*	Nonsense	13/28	-
7-87069674-A-C	ABCB4	c.1401T>G	p.Y467*	Nonsense	13/28	-
2-220075187-G-A	ABCB6	c.2267C>T	p.A756V	Missense	17/19	-
12-49169162-C-T	ADCY6	c.1904G>A	p.R635H	Missense	11/22	-
12-49171899-G-A	ADCY6	c.1006C>T	p.R336W	Missense	3/22	-
4-178359970-A-C	AGA	c.436T>G	p.L146V	Missense	4/9	-
11-47726227-C-A	AGBL2	c.454G>T	p.E152*	Nonsense	7/19	-
11-47727091-G-A	AGBL2	c.382C>T	p.R128*	Nonsense	6/19	-
4-107248643-C-T	AIMP1	c.217C>T	p.R49*	Nonsense	3/7	-
7-91691743-G-T	AKAP9	c.5920G>T	p.E1974*	Nonsense	24/50	-
9-116151734-C-T	ALAD	c.785G>A	p.R262Q	Missense	10/12	-
9-116155790-C-T	ALAD	c.50G>A	p.R17Q	Missense	2/12	-
10-97388152-TCT-CCA	ALDH18A1	c.904_906delAGAinsTGG	p.R302W	Missense	8/18	-
10-97376299-G-A	ALDH18A1	c.1540C>T	p.R514W	Missense	13/18	-
12-112229964-G-A	ALDH2	c.895G>A	p.D299N	Missense	8/13	-
14-74531536-A-G	ALDH6A1	c.1492T>C	p.Y498H	Missense	11/12	-
14-74538992-G-A	ALDH6A1	c.262C>T	p.R88C	Missense	4/12	-
14-74539060-T-C	ALDH6A1	c.194A>G	p.N65S	Missense	4/12	-
14-74539275-A-G	ALDH6A1	c.151T>C	p.S51P	Missense	3/12	-
16-30078636-C-T	ALDOA	c.223C>T	p.H75Y	Missense	3/10	-
16-30078639-C-T	ALDOA	c.226C>T	p.R76C	Missense	3/10	-
16-30078813-C-G	ALDOA	c.317C>G	p.T106S	Missense	4/10	-
16-30078812-A-T	ALDOA	c.316A>T	p.T106S	Missense	4/10	-
16-30078568-C-G	ALDOA	c.155C>G	p.T52S	Missense	3/10	-
16-30078567-A-T	ALDOA	c.154A>T	p.T52S	Missense	3/10	-
9-104187213-C-T	ALDOB	c.911G>A	p.R304Q	Missense	8/9	-
1-63064445-C-T	ANGPTL3	c.574C>T	p.Q192*	Nonsense	2/7	-
17-64216701-C-T	APOH	c.575G>A	p.G192E	Missense	5/8	-
17-64212935-C-T	APOH	c.755G>A	p.G252E	Missense	6/8	-
21-27264107-G-A	APP	c.2138C>T	p.A713V	Missense	17/18	-
21-27284152-C-T	APP	c.1810G>A	p.V604M	Missense	14/18	-
21-27462316-G-A	APP	c.298C>T	p.R100W	Missense	3/18	-
12-50355886-T-A	AQP5	c.86T>A	p.L29Q	Missense	1/4	-
12-50357902-C-G	AQP5	c.556C>G	p.P186A	Missense	3/4	-
22-51064624-G-A	ARSA	c.937C>T	p.R313*	Nonsense	5/8	-
8-37986381-A-G	ASH2L	c.1439A>G	p.Y480C	Missense	12/16	-
8-37978524-A-G	ASH2L	c.1022A>G	p.Y341C	Missense	10/16	-
1-176983985-T-C	ASTN1	c.1465A>G	p.M489V	Missense	8/23	-
18-31320169-T-A	ASXL3	c.2801T>A	p.L934*	Nonsense	11/12	-
3-10417194-T-C	ATP2B2	c.1336A>G	p.I446V	Missense	11/23	-
1-235647766-G-A	B3GALNT2	c.427C>T	p.R143*	Nonsense	4/12	-
11-66281934-G-T	BBS1	c.217G>T	p.G73*	Nonsense	4/17	-
4-42122134-G-A	BEND4	c.1324C>T	p.Q442*	Nonsense	5/6	-
17-1174108-C-T	BHLHA9	c.251C>T	p.A84V	Missense	1/1	-
13-103527663-C-T	BIVM-ERCC5	c.4333C>T	p.L1445F	Missense	23/23	-
13-103527672-G-C	BIVM-ERCC5	c.4342G>C	p.D1448H	Missense	23/23	-
13-103513863-G-C	ERCC5	c.679G>C	p.D227H	Missense	7/15	-
8-22053056-G-A	BMP1	c.1721G>A	p.C574Y	Missense	13/20	-
8-22053089-G-A	BMP1	c.1754G>A	p.R585H	Missense	13/20	-
8-22059342-G-A	BMP1	c.2134G>A	p.G712S	Missense	16/20	-
8-22059375-G-A	BMP1	c.2167G>A	p.G723S	Missense	16/20	-
10-43288009-A-G	BMS1	c.848A>G	p.Y283C	Missense	7/23	-
7-2578899-G-A	BRAT1	c.1684C>T	p.R562*	Nonsense	13/14	-
15-40476000-C-T	BUB1B	c.667C>T	p.Q223*	Nonsense	6/23	-
9-140811855-T-C	CACNA1B	c.938T>C	p.M313T	Missense	6/47	-
9-140866015-A-G	CACNA1B	c.1514A>G	p.N505S	Missense	11/47	-
9-140870469-G-T	CACNA1B	c.1654G>T	p.G552W	Missense	12/47	-
1-181688960-T-C	CACNA1E	c.1712T>C	p.L571S	Missense	13/48	-
17-48655854-T-C	CACNA1G	c.2230T>C	p.Y744H	Missense	9/38	-
12-1969369-G-A	CACNA2D4	c.1882C>T	p.R628*	Nonsense	19/38	-
7-116544296-T-A	CAPZA2	c.285T>A	p.C95*	Nonsense	5/10	-
3-121980963-C-T	CASR	c.1081C>T	p.Q361*	Nonsense	4/7	-
12-49298864-C-T	CCDC65	c.268C>T	p.R90*	Nonsense	2/8	-
19-18990162-A-G	CERS1	c.788T>C	p.V263A	Missense	5/8	-
7-80301310-T-G	CD36	c.1079T>G	p.L360*	Nonsense	11/15	-
2-87017465-G-T	CD8A	c.389C>A	p.P130Q	Missense	2/6	-
10-73565943-G-A	CDH23	c.8083G>A	p.D2695N	Missense	57/70	-
10-73406288-G-A	CDH23	c.1363G>A	p.D455N	Missense	14/70	-
20-60503452-G-A	CDH4	c.1976G>A	p.R659Q	Missense	12/16	-
13-26974623-C-T	CDK8	c.967C>T	p.R323*	Nonsense	10/13	-
13-26928009-A-T	CDK8	c.448A>T	p.R150*	Nonsense	4/13	-
4-56840914-C-T	CEP135	c.1252C>T	p.R418*	Nonsense	11/26	-
11-117282575-C-T	CEP164	c.4228C>T	p.Q1410*	Nonsense	32/33	-
12-88465123-C-A	CEP290	c.5959G>T	p.E1987*	Nonsense	43/54	-
10-73767882-C-A	CHST3	c.1093C>A	p.R365S	Missense	3/3	-
16-75512898-C-G	CHST6	c.829G>C	p.A277P	Missense	3/3	-
16-75513384-G-A	CHST6	c.343C>T	p.R115C	Missense	3/3	-
9-130941558-G-A	CIZ1	c.928C>T	p.R310*	Nonsense	8/17	-
9-130941629-CG-TA	CIZ1	c.856_857delCGinsTA	p.R286*	Nonsense	8/17	-
X-10182011-G-A	CLCN4	c.1867G>A	p.E623K	Missense	11/13	-
16-1498391-C-T	CLCN7	c.1978G>A	p.G660S	Missense	21/25	-
16-1507305-C-A	CLCN7	c.772G>T	p.A258S	Missense	9/25	-
16-1507736-C-T	CLCN7	c.697G>A	p.G233S	Missense	8/25	-
1-16350420-C-T	CLCNKA	c.226C>T	p.R76*	Nonsense	3/20	-
1-16358742-C-T	CLCNKA	c.1801C>T	p.Q601*	Nonsense	17/20	-
19-6366374-G-A	CLPP	c.661G>A	p.E221K	Missense	5/6	-
17-57762984-G-T	CLTC	c.4642G>T	p.E1548*	Nonsense	30/32	-
17-57762996-G-T	CLTC	c.4654G>T	p.E1552*	Nonsense	30/32	-
16-3554755-C-T	CLUAP1	c.58C>T	p.R20*	Nonsense	2/12	-
8-87645045-C-T	CNGB3	c.1255G>A	p.E419K	Missense	11/18	-
6-33152794-G-T	COL11A2	c.914C>A	p.S305*	Nonsense	7/66	-
4-109971321-G-A	COL25A1	c.382C>T	p.R128*	Nonsense	4/38	-
2-227917083-G-C	COL4A4	c.2906C>G	p.S969*	Nonsense	32/48	-
2-3691072-G-A	COLEC11	c.367G>A	p.G123R	Missense	6/7	-
1-160268666-A-C	COPA	c.1946T>G	p.F649C	Missense	19/33	-
16-19085268-A-G	COQ7	c.278A>G	p.H93R	Missense	3/6	-
4-47680029-C-T	CORIN	c.1175G>A	p.C392Y	Missense	9/22	-
4-47685795-C-T	CORIN	c.974G>A	p.C325Y	Missense	7/22	-
4-47682226-C-T	CORIN	c.1064G>A	p.C355Y	Missense	8/22	-
1-53675952-T-G	CPT2	c.606T>G	p.Y202*	Nonsense	4/5	-
1-207647643-G-A	CR2	c.2298G>A	p.W766*	Nonsense	13/20	-
22-25627654-G-C	CRYBB2	c.533G>C	p.G178A	Missense	6/6	-
5-138260288-C-T	CTNNA1	c.1636C>T	p.R546*	Nonsense	12/18	-
20-44522702-C-A	CTSA	c.822C>A	p.C256*	Nonsense	8/15	-
10-16948208-G-A	CUBN	c.7906C>T	p.R2636*	Nonsense	50/67	-
10-16982151-G-A	CUBN	c.5428C>T	p.R1810*	Nonsense	37/67	-
2-38302015-C-A	CYP1B1	c.517G>T	p.E173*	Nonsense	2/3	-
2-136669045-C-T	DARS1	c.1249G>A	p.D417N	Missense	14/16	-
2-136673942-C-G	DARS1	c.960G>C	p.R320S	Missense	11/16	-
2-136673942-C-A	DARS1	c.960G>T	p.R320S	Missense	11/16	-
2-136681990-A-C	DARS1	c.643T>G	p.F215V	Missense	8/16	-
9-136513028-C-T	DBH	c.1085C>T	p.A362V	Missense	6/12	-
6-24291298-G-A	DCDC2	c.566C>T	p.T189I	Missense	5/10	-
1-162722908-A-C	DDR2	c.106A>C	p.M36L	Missense	4/18	-
1-162724626-G-A	DDR2	c.398G>A	p.R133Q	Missense	5/18	-
1-162724632-G-A	DDR2	c.404G>A	p.R135H	Missense	5/18	-
1-162725004-T-C	DDR2	c.476T>C	p.I159T	Missense	6/18	-
1-200618285-C-T	DDX59	c.1384G>A	p.E462K	Missense	6/8	-
1-200635556-C-T	DDX59	c.313G>A	p.E105K	Missense	2/8	-
1-200619614-C-T	DDX59	c.1253G>A	p.R418H	Missense	5/8	-
1-55337283-C-T	DHCR24	c.616G>A	p.E206K	Missense	5/9	-
5-13717512-C-T	DNAH5	c.12617G>A	p.W4206*	Nonsense	73/79	-
5-13776686-G-A	DNAH5	c.9235C>T	p.R3079*	Nonsense	55/79	-
5-13864741-C-T	DNAH5	c.4361G>A	p.R1454Q	Missense	28/79	-
5-13919443-G-A	DNAH5	c.817C>T	p.Q273*	Nonsense	7/79	-
5-34936257-C-A	DNAJC21	c.324C>A	p.Y108*	Nonsense	4/12	-
5-34936257-C-G	DNAJC21	c.324C>G	p.Y108*	Nonsense	4/12	-
19-10262093-C-T	DNMT1	c.2246G>A	p.W749*	Nonsense	24/41	-
19-10262092-C-T	DNMT1	c.2247G>A	p.W749*	Nonsense	24/41	-
2-25469932-G-T	DNMT3A	c.1110C>A	p.Y370*	Nonsense	9/23	-
2-25469932-G-C	DNMT3A	c.1110C>G	p.Y370*	Nonsense	9/23	-
4-3491503-C-A	DOK7	c.752C>A	p.A251E	Missense	6/7	-
4-3491503-C-T	DOK7	c.752C>T	p.A251V	Missense	6/7	-
15-65793031-G-T	DPP8	c.459C>A	p.Y153*	Nonsense	4/20	-
8-105463545-G-A	DPYS	c.352C>T	p.R118*	Nonsense	2/10	-
8-105463547-C-T	DPYS	c.350G>A	p.W117*	Nonsense	2/10	-
11-117391896-C-T	DSCAML1	c.1342G>A	p.A388T	Missense	6/33	-
11-103041639-C-T	DYNC2H1	c.5176C>T	p.R1726*	Nonsense	34/89	-
11-19259665-A-T	E2F8	c.30T>A	p.C10*	Nonsense	3/13	-
4-148460970-G-A	EDNRA	c.902G>A	p.R301H	Missense	6/8	-
4-148453684-G-A	EDNRA	c.575G>A	p.R192H	Missense	4/8	-
7-55214374-T-C	EGFR	c.500T>C	p.I167T	Missense	4/28	-
7-55268044-C-T	EGFR	c.2884C>T	p.R962C	Missense	24/28	-
15-40265890-C-A	EIF2AK4	c.1758C>A	p.Y586*	Nonsense	11/39	-
15-40265890-C-G	EIF2AK4	c.1758C>G	p.Y586*	Nonsense	11/39	-
15-40309387-C-T	EIF2AK4	c.4009C>T	p.R1337*	Nonsense	29/39	-
1-45446770-G-A	EIF2B3	c.71C>T	p.P24L	Missense	2/12	-
3-183855449-G-A	EIF2B5	c.362G>A	p.R121Q	Missense	3/16	-
3-183855694-G-A	EIF2B5	c.515G>A	p.R172Q	Missense	4/16	-
3-183859764-C-T	EIF2B5	c.1208C>T	p.A403V	Missense	8/16	-
1-19566469-A-T	EMC1	c.797T>A	p.L266*	Nonsense	8/23	-
1-19566469-A-C	EMC1	c.797T>G	p.L266*	Nonsense	8/23	-
5-111570393-T-C	EPB41L4A	c.1025A>G	p.Q342R	Missense	12/23	-
5-111600663-C-G	EPB41L4A	c.484G>C	p.E162Q	Missense	6/23	-
12-56478852-G-A	ERBB3	c.308G>A	p.R103H	Missense	3/28	-
12-56492308-G-A	ERBB3	c.2641G>A	p.E881K	Missense	22/28	-
12-56481375-G-A	ERBB3	c.562G>A	p.E188K	Missense	5/28	-
19-45856516-A-G	ERCC2	c.1742T>C	p.L581P	Missense	18/23	-
19-45860755-G-A	ERCC2	c.1354C>T	p.Q452*	Nonsense	14/23	-
19-45860760-C-T	ERCC2	c.1349G>A	p.R450H	Missense	14/23	-
19-45864886-C-T	ERCC2	c.1133G>A	p.R378H	Missense	12/23	-
19-45867167-C-T	ERCC2	c.952G>A	p.A318T	Missense	11/23	-
16-14020608-G-A	ERCC4	c.579G>A	p.W193*	Nonsense	3/11	-
10-50701183-C-T	ERCC6	c.1801G>A	p.G601S	Missense	8/21	-
10-50701212-G-A	ERCC6	c.1772C>T	p.P591L	Missense	8/21	-
6-152265358-AGA-TGT	ESR1	c.811_813delAGAinsTGT	p.R271C	Missense	4/8	-
6-152420094-C-T	ESR1	c.1781C>T	p.T594M	Missense	8/8	-
4-5664955-T-A	EVC2	c.1024A>T	p.K342*	Nonsense	9/22	-
13-37577143-C-T	EXOSC8	c.191C>T	p.A64V	Missense	4/11	-
13-37580084-G-A	EXOSC8	c.266G>A	p.C89Y	Missense	6/11	-
11-44257852-C-T	EXT2	c.1945C>T	p.R649*	Nonsense	13/14	-
6-65655687-G-A	EYS	c.2380C>T	p.R794*	Nonsense	15/43	-
1-197031092-G-T	F13B	c.273C>A	p.C91*	Nonsense	3/12	-
11-46749571-C-A	F2	c.1156C>A	p.P386T	Missense	10/14	-
13-113769985-C-G	F7	c.376C>G	p.Q126E	Missense	5/8	-
13-113771136-C-G	F7	c.562C>G	p.Q188E	Missense	6/8	-
13-113773030-G-A	F7	c.1043G>A	p.C348Y	Missense	8/8	-
8-139165385-C-A	FAM135B	c.1333G>T	p.E445*	Nonsense	13/20	-
8-144811340-G-A	FAM83H	c.601C>T	p.Q201*	Nonsense	3/5	-
16-89857830-G-A	FANCA	c.1340C>T	p.S447L	Missense	14/43	-
9-97869464-G-A	FANCC	c.1417C>T	p.Q473*	Nonsense	14/15	-
22-45937231-G-C	FBLN1	c.1045G>C	p.E349Q	Missense	9/17	-
22-45946483-G-A	FBLN1	c.1685G>A	p.R562H	Missense	14/17	-
22-45970420-G-A	FBLN1	c.1727G>A	p.R576H	Missense	15/17	-
4-1807488-G-A	FGFR3	c.1657G>A	p.V553M	Missense	13/18	-
5-176522681-C-G	FGFR4	c.1778C>G	p.A593G	Missense	13/18	-
5-176522561-C-G	FGFR4	c.1658C>G	p.A553G	Missense	13/18	-
5-176522701-A-G	FGFR4	c.1798A>G	p.M600V	Missense	13/18	-
2-71012698-G-T	FIGLA	c.458C>A	p.S153*	Nonsense	3/5	-
2-71012698-G-C	FIGLA	c.458C>G	p.S153*	Nonsense	3/5	-
3-58083563-C-T	FLNB	c.1006C>T	p.Q336*	Nonsense	7/46	-
5-131034659-G-A	FNIP1	c.1153C>T	p.Q385*	Nonsense	11/18	-
1-74835092-A-G	TNNI3K	c.1490A>G	p.Y497C	Missense	16/25	-
1-74905180-C-T	TNNI3K	c.1885C>T	p.R629C	Missense	20/25	-
4-48551547-C-T	FRYL	c.4727G>A	p.W1576*	Nonsense	39/64	-
4-48551546-C-T	FRYL	c.4728G>A	p.W1576*	Nonsense	39/64	-
3-46003824-G-T	FYCO1	c.3330C>A	p.C1110*	Nonsense	11/18	-
17-78083792-G-C	GAA	c.1375G>C	p.D459H	Missense	9/20	-
4-47405591-T-C	GABRB1	c.698T>C	p.L233P	Missense	7/9	-
2-171702054-C-T	GAD1	c.790C>T	p.R264C	Missense	8/17	-
14-88406319-C-T	GALC	c.1841G>A	p.W614*	Nonsense	16/17	-
14-88406318-C-T	GALC	c.1842G>A	p.W614*	Nonsense	16/17	-
9-35741799-C-T	GBA2	c.656G>A	p.W219*	Nonsense	4/17	-
9-35741798-C-T	GBA2	c.657G>A	p.W219*	Nonsense	4/17	-
10-48416429-T-A	GDF2	c.265A>T	p.M89L	Missense	1/2	-
3-158402330-C-A	GFM1	c.1782C>A	p.C594*	Nonsense	15/18	-
X-70443624-G-A	GJB1	c.67G>A	p.V23I	Missense	2/2	-
1-35226919-C-T	GJB4	c.64C>T	p.R22C	Missense	2/2	-
1-35226924-C-G	GJB4	c.69C>G	p.I23M	Missense	2/2	-
1-35227226-G-A	GJB4	c.371G>A	p.R124Q	Missense	2/2	-
1-35227330-C-T	GJB4	c.475C>T	p.P159S	Missense	2/2	-
1-35227363-C-T	GJB4	c.508C>T	p.P170S	Missense	2/2	-
1-35227390-C-T	GJB4	c.535C>T	p.R179W	Missense	2/2	-
1-35227391-G-A	GJB4	c.536G>A	p.R179Q	Missense	2/2	-
9-6592910-C-A	GLDC	c.1342G>T	p.E448*	Nonsense	10/25	-
1-182355450-A-G	GLUL	c.416T>C	p.L139P	Missense	4/7	-
3-52325879-C-T	GLYCTK	c.646C>T	p.R216W	Missense	4/5	-
5-150646936-G-A	GM2A	c.506G>A	p.R169H	Missense	4/4	-
3-49760503-C-G	GMPPB	c.304G>C	p.D102H	Missense	4/9	-
3-49761042-C-G	GMPPB	c.118G>C	p.A40P	Missense	1/9	-
19-3119207-C-T	GNA11	c.739C>T	p.R247W	Missense	6/7	-
16-56368661-G-A	GNAO1	c.485G>A	p.R162Q	Missense	5/9	-
2-157370003-A-T	GPD2	c.656A>T	p.Y219F	Missense	6/17	-
2-157413926-C-A	GPD2	c.997C>A	p.P333T	Missense	9/17	-
8-144297001-G-A	GPIHBP1	c.295G>A	p.E99K	Missense	3/4	-
9-37424897-C-T	GRHPR	c.139C>T	p.R47*	Nonsense	2/9	-
9-37436747-G-T	GRHPR	c.955G>T	p.G319W	Missense	9/9	-
4-94159575-T-A	GRID2	c.1179T>A	p.N393K	Missense	8/16	-
3-7503305-G-C	GRM7	c.1411G>C	p.G471R	Missense	7/10	-
20-33517258-G-A	GSS	c.1247C>T	p.P416L	Missense	12/13	-
20-33519142-C-T	GSS	c.1108G>A	p.G370R	Missense	11/13	-
20-33524611-T-C	GSS	c.722A>G	p.D241G	Missense	8/13	-
20-33530809-G-C	GSS	c.276C>G	p.S92R	Missense	4/13	-
20-33530809-G-T	GSS	c.276C>A	p.S92R	Missense	4/13	-
20-33533757-T-G	GSS	c.274A>C	p.S92R	Missense	3/13	-
16-27514186-A-T	GTF3C1	c.1901T>A	p.L634*	Nonsense	11/37	-
16-27514186-A-C	GTF3C1	c.1901T>G	p.L634*	Nonsense	11/37	-
4-156634563-G-A	GUCY1A1	c.1400G>A	p.W467*	Nonsense	7/10	-
4-156634564-G-A	GUCY1A1	c.1401G>A	p.W467*	Nonsense	7/10	-
7-65439382-C-T	GUSB	c.1291G>A	p.E431K	Missense	8/12	-
7-65444841-C-T	GUSB	c.454G>A	p.D152N	Missense	3/12	-
10-71868800-C-T	MACROH2A2	c.790C>T	p.Q264*	Nonsense	8/9	-
4-108935674-G-T	HADH	c.349G>T	p.V117L	Missense	3/8	-
4-108935686-G-C	HADH	c.361G>C	p.V121L	Missense	3/8	-
4-108935686-G-T	HADH	c.361G>T	p.V121L	Missense	3/8	-
4-108948850-C-A	HADH	c.643C>A	p.P215T	Missense	6/8	-
4-108955433-C-T	HADH	c.865C>T	p.P289S	Missense	8/8	-
5-140058615-C-T	HARS1	c.494G>A	p.R165H	Missense	5/13	-
5-140073192-T-G	HARS2	c.125T>G	p.L42*	Nonsense	2/13	-
5-45396650-G-A	HCN1	c.1174C>T	p.H392Y	Missense	4/8	-
1-32768258-C-T	HDAC1	c.86C>T	p.P29L	Missense	2/14	-
1-32797135-C-A	HDAC1	c.1040C>A	p.P347H	Missense	10/14	-
15-63950798-G-A	HERC1	c.9544C>T	p.Q3182*	Nonsense	48/78	-
5-130495166-G-A	HINT1	c.355C>T	p.R119W	Missense	3/3	-
6-27839843-C-G	H3C11	c.251G>C	p.R84P	Missense	1/1	-
1-228362969-C-T	IBA57	c.826C>T	p.R276C	Missense	3/3	-
10-71103703-A-G	HK1	c.184A>G	p.K62E	Missense	2/18	-
10-71139778-C-G	HK1	c.1192C>G	p.R398G	Missense	9/18	-
10-71142274-C-G	HK1	c.1297C>G	p.R433G	Missense	10/18	-
10-71151971-G-T	HK1	c.2126G>T	p.W709L	Missense	15/18	-
10-71152004-A-G	HK1	c.2159A>G	p.D720G	Missense	15/18	-
10-71152001-A-G	HK1	c.2156A>G	p.D719G	Missense	15/18	-
10-71158535-C-G	HK1	c.2560C>G	p.L854V	Missense	17/18	-
11-118960923-G-A	HMBS	c.446G>A	p.R149Q	Missense	8/14	-
11-118960925-AG-CA	HMBS	c.448_449delAGinsCA	p.R150Q	Missense	8/14	-
12-121434371-C-T	HNF1A	c.1135C>T	p.P379S	Missense	6/10	-
17-46607103-C-T	HOXB1	c.712G>A	p.A238T	Missense	2/2	-
1-220316291-A-T	IARS2	c.2566A>T	p.K856*	Nonsense	21/23	-
6-52884157-C-T	CILK1	c.359G>A	p.G120D	Missense	6/14	-
2-209108284-T-C	IDH1	c.565A>G	p.I189V	Missense	6/10	-
20-2640779-T-C	IDH3B	c.812A>G	p.N271S	Missense	9/12	-
3-129182409-G-A	IFT122	c.356G>A	p.W119*	Nonsense	6/30	-
3-129182410-G-A	IFT122	c.357G>A	p.W119*	Nonsense	6/30	-
3-160075365-C-T	IFT80	c.551G>A	p.W184*	Nonsense	7/20	-
3-160075364-C-T	IFT80	c.552G>A	p.W184*	Nonsense	7/20	-
21-34660451-C-A	IL10RB	c.689C>A	p.S230*	Nonsense	6/7	-
3-9960285-C-T	IL17RC	c.457C>T	p.Q153*	Nonsense	5/19	-
7-128034652-C-T	IMPDH1	c.1552G>A	p.E518K	Missense	15/17	-
7-128035298-G-C	IMPDH1	c.1292C>G	p.A431G	Missense	13/17	-
7-128038580-G-C	IMPDH1	c.962C>G	p.A321G	Missense	10/17	-
7-128036731-G-C	IMPDH1	c.1184C>G	p.A395G	Missense	12/17	-
7-128035310-G-A	IMPDH1	c.1280C>T	p.P427L	Missense	13/17	-
7-128040212-C-T	IMPDH1	c.811G>A	p.V271M	Missense	9/17	-
13-111371966-C-T	ING1	c.527C>T	p.P176L	Missense	2/2	-
15-41377614-G-A	INO80	c.826C>T	p.R276C	Missense	7/36	-
9-139324736-G-A	INPP5E	c.1795C>T	p.R599*	Nonsense	9/10	-
11-71948820-C-T	INPPL1	c.3532C>T	p.Q1178*	Nonsense	26/28	-
11-613539-G-A	IRF7	c.904C>T	p.Q302*	Nonsense	9/11	-
16-85942708-C-T	IRF8	c.287C>T	p.T96M	Missense	3/9	-
16-85952145-T-C	IRF8	c.724T>C	p.Y242H	Missense	7/9	-
20-3195932-G-A	ITPA	c.269G>A	p.W90*	Nonsense	5/8	-
20-3195933-G-A	ITPA	c.270G>A	p.W90*	Nonsense	5/8	-
12-26568376-G-A	ITPR2	c.7166C>T	p.T2389I	Missense	51/57	-
12-26818856-T-A	ITPR2	c.1538A>T	p.N513I	Missense	14/57	-
12-26839453-T-C	ITPR2	c.1109A>G	p.D370G	Missense	11/57	-
21-35255938-C-A	ITSN1	c.4639C>A	p.R1547S	Missense	36/40	-
9-5066712-G-A	JAK2	c.1249G>A	p.G417S	Missense	10/25	-
9-5072540-C-T	JAK2	c.1690C>T	p.R564*	Nonsense	13/25	-
11-17757620-C-G	KCNC1	c.71C>G	p.S24W	Missense	1/4	-
1-210948803-A-T	KCNH1	c.1999T>A	p.C667S	Missense	10/11	-
1-210948802-C-G	KCNH1	c.2000G>C	p.C667S	Missense	10/11	-
1-210948886-C-T	KCNH1	c.1916G>A	p.G639E	Missense	10/11	-
1-210970930-C-T	KCNH1	c.1835G>A	p.G612E	Missense	9/11	-
1-211264032-C-T	KCNH1	c.311G>A	p.R104K	Missense	4/11	-
1-211093071-A-G	KCNH1	c.1373T>C	p.M458T	Missense	7/11	-
1-211092990-A-G	KCNH1	c.1454T>C	p.M485T	Missense	7/11	-
6-39271759-G-T	KCNK17	c.662C>A	p.T221N	Missense	4/5	-
6-73713714-T-C	KCNQ5	c.482T>C	p.L161S	Missense	2/14	-
1-215785248-C-A	KCTD3	c.1547C>A	p.S516*	Nonsense	15/18	-
1-215785248-C-G	KCTD3	c.1547C>G	p.S516*	Nonsense	15/18	-
12-121880639-G-A	KDM2B	c.2605C>T	p.R869W	Missense	19/23	-
16-27585233-C-T	KATNIP	c.19C>T	p.R7*	Nonsense	2/28	-
16-27709663-C-T	KATNIP	c.955C>T	p.R319*	Nonsense	9/28	-
10-32323695-T-G	KIF5B	c.1034A>C	p.E345A	Missense	11/26	-
7-129756305-C-T	KLHDC10	c.274C>T	p.R92*	Nonsense	3/10	-
17-40003558-G-A	KLHL10	c.1348G>A	p.A450T	Missense	4/5	-
5-136969741-G-A	KLHL3	c.1435C>T	p.R479C	Missense	12/15	-
5-136993874-TCT-ACA	KLHL3	c.847_849delAGAinsTGT	p.R283C	Missense	8/15	-
5-136975627-G-A	KLHL3	c.943C>T	p.R315C	Missense	9/15	-
19-51411644-C-A	KLK4	c.583G>T	p.G195*	Nonsense	4/5	-
3-186459441-C-A	KNG1	c.1256C>A	p.S419*	Nonsense	10/10	-
7-98786037-G-T	KPNA7	c.786C>A	p.C262*	Nonsense	7/11	-
14-50768850-T-A	L2HGDH	c.293A>T	p.H98L	Missense	3/10	-
18-21399890-C-T	LAMA3	c.2233C>T	p.R745*	Nonsense	19/75	-
20-60912886-C-T	LAMA5	c.2000G>A	p.G667D	Missense	15/80	-
20-60942163-G-A	LAMA5	c.139C>T	p.P47S	Missense	1/80	-
3-49163299-G-T	LAMB2	c.2369C>A	p.S790*	Nonsense	18/32	-
3-49163299-G-C	LAMB2	c.2369C>G	p.S790*	Nonsense	18/32	-
3-49169953-G-A	LAMB2	c.220C>T	p.Q74*	Nonsense	2/32	-
1-32742387-G-T	LCK	c.964G>T	p.G322W	Missense	9/13	-
8-19805792-G-A	LPL	c.190G>A	p.V64M	Missense	2/10	-
1-66075751-G-A	LEPR	c.1874G>A	p.W625*	Nonsense	13/20	-
1-66075752-G-A	LEPR	c.1875G>A	p.W625*	Nonsense	13/20	-
3-185237080-A-T	LIPH	c.736T>A	p.C246S	Missense	6/10	-
2-97377602-G-A	LMAN2L	c.668C>T	p.T223M	Missense	5/8	-
5-96358164-G-A	LNPEP	c.2537G>A	p.W846*	Nonsense	14/18	-
5-96358165-G-A	LNPEP	c.2538G>A	p.W846*	Nonsense	14/18	-
19-5692207-C-A	LONP1	c.2716G>T	p.G906W	Missense	18/18	-
19-5696688-A-G	LONP1	c.1766T>C	p.I589T	Missense	11/18	-
19-5705880-G-A	LONP1	c.1270C>T	p.R424C	Missense	8/18	-
19-5699111-G-A	LONP1	c.1612C>T	p.R538C	Missense	10/18	-
4-155665641-C-G	LRAT	c.163C>G	p.R55G	Missense	2/3	-
1-113638521-C-T	LRIG2	c.829C>T	p.R277*	Nonsense	7/18	-
12-57539126-G-A	LRP1	c.694G>A	p.A232T	Missense	6/89	-
12-57572173-G-A	LRP1	c.4393G>A	p.G1465S	Missense	27/89	-
12-57573202-C-T	LRP1	c.4829C>T	p.T1610M	Missense	29/89	-
12-57573645-C-A	LRP1	c.5047C>A	p.Q1683K	Missense	30/89	-
12-57594871-T-A	LRP1	c.10280T>A	p.I3427N	Missense	65/89	-
21-47635171-G-A	LSS	c.934C>T	p.R312W	Missense	9/22	-
21-47641788-C-T	LSS	c.530G>A	p.R177Q	Missense	5/22	-
4-103578921-C-T	MANBA	c.1622G>A	p.W541*	Nonsense	12/17	-
2-174047645-T-A	MAP3K20	c.311T>A	p.M104K	Missense	4/20	-
2-174062811-G-A	MAP3K20	c.640G>A	p.V214I	Missense	8/20	-
5-68715702-C-T	MARVELD2	c.490C>T	p.R164*	Nonsense	2/7	-
10-82034340-T-C	MAT1A	c.1021A>G	p.T341A	Missense	8/9	-
3-127323999-G-C	MCM2	c.673G>C	p.E225Q	Missense	4/16	-
8-6478981-C-T	MCPH1	c.2221C>T	p.R741*	Nonsense	13/14	-
19-42872634-C-T	MEGF8	c.6301C>T	p.R2101*	Nonsense	36/42	-
1-40433345-C-T	MFSD2A	c.1057C>T	p.R353W	Missense	10/14	-
X-107084395-G-A	MID2	c.500G>A	p.R167Q	Missense	2/10	-
7-131128432-C-T	MKLN1	c.1366C>T	p.R456*	Nonsense	11/18	-
14-23311138-C-T	MMP14	c.274C>T	p.R92*	Nonsense	3/10	-
14-23313581-A-C	MMP14	c.1013A>C	p.E338A	Missense	7/10	-
2-202545582-G-C	MPP4	c.908C>G	p.P303R	Missense	10/22	-
2-202545714-G-C	MPP4	c.776C>G	p.P259R	Missense	10/22	-
2-202545682-A-G	MPP4	c.808T>C	p.F270L	Missense	10/22	-
17-60757241-G-A	MRC2	c.2276G>A	p.W759*	Nonsense	14/30	-
17-60757242-G-A	MRC2	c.2277G>A	p.W759*	Nonsense	14/30	-
6-31726340-A-G	MSH5	c.1159A>G	p.S387G	Missense	14/25	-
4-166261443-T-C	MSMO1	c.602T>C	p.I201T	Missense	5/6	-
1-93576183-G-T	MTF2	c.286G>T	p.G96*	Nonsense	3/15	-
19-50771512-G-A	MYH14	c.2921G>A	p.R974H	Missense	24/43	-
14-23853809-C-A	MYH6	c.5407G>T	p.E1803*	Nonsense	36/39	-
17-18024533-C-T	MYO15A	c.2419C>T	p.Q807*	Nonsense	2/66	-
17-18024813-G-A	MYO15A	c.2699G>A	p.W900*	Nonsense	2/66	-
17-18024814-G-A	MYO15A	c.2700G>A	p.W900*	Nonsense	2/66	-
22-26304337-C-T	MYO18B	c.5197C>T	p.Q1733*	Nonsense	32/44	-
22-26422866-C-A	MYO18B	c.6926C>A	p.S2309*	Nonsense	43/44	-
22-26422866-C-G	MYO18B	c.6926C>G	p.S2309*	Nonsense	43/44	-
10-26359062-C-A	MYO3A	c.1193C>A	p.S398*	Nonsense	13/35	-
1-171605322-T-A	MYOC	c.1258A>T	p.N420Y	Missense	3/3	-
1-171605330-C-A	MYOC	c.1250G>T	p.W417L	Missense	3/3	-
11-78154733-G-C	NARS2	c.1236C>G	p.Y412*	Nonsense	12/14	-
5-60394822-G-A	NDUFAF2	c.221G>A	p.W74*	Nonsense	3/4	-
2-207011681-A-G	NDUFS1	c.683T>C	p.V228A	Missense	8/19	-
2-207011789-A-G	NDUFS1	c.575T>C	p.V192A	Missense	8/19	-
11-47603664-C-T	NDUFS3	c.406C>T	p.R136C	Missense	5/7	-
11-67803759-C-T	NDUFS8	c.412C>T	p.R138C	Missense	6/7	-
11-67803828-C-A	NDUFS8	c.481C>A	p.P161T	Missense	6/7	-
11-67803843-G-A	NDUFS8	c.496G>A	p.V166I	Missense	6/7	-
4-170345796-G-A	NEK1	c.3130C>T	p.R1044*	Nonsense	31/36	-
4-170477159-G-A	NEK1	c.1354C>T	p.Q452*	Nonsense	17/36	-
2-219942018-G-A	NHEJ1	c.775C>T	p.Q259*	Nonsense	7/8	-
19-54318207-G-A	NLRP12	c.325C>T	p.Q109*	Nonsense	2/10	-
7-37924000-G-T	NME8	c.1090G>T	p.E364*	Nonsense	13/18	-
7-37936584-C-T	NME8	c.1657C>T	p.R553*	Nonsense	17/18	-
1-10032154-A-C	NMNAT1	c.23A>C	p.E8A	Missense	2/5	-
1-10032168-G-A	NMNAT1	c.37G>A	p.A13T	Missense	2/5	-
1-10042508-A-G	NMNAT1	c.589A>G	p.I197V	Missense	5/5	-
1-10042553-G-A	NMNAT1	c.634G>A	p.V212M	Missense	5/5	-
17-54671714-G-C	NOG	c.130G>C	p.V44L	Missense	1/1	-
17-54671714-G-T	NOG	c.130G>T	p.V44L	Missense	1/1	-
17-54671787-C-T	NOG	c.203C>T	p.S68L	Missense	1/1	-
19-36336604-G-A	NPHS1	c.1724C>T	p.P575L	Missense	13/29	-
5-142680079-G-T	NR3C1	c.1718C>A	p.A573E	Missense	5/9	-
5-142680076-G-T	NR3C1	c.1721C>A	p.A574E	Missense	5/9	-
5-142689678-AG-CT	NR3C1	c.1451_1452delCTinsAG	p.A484E	Missense	4/9	-
5-37310686-G-C	NUP155	c.2596C>G	p.L866V	Missense	23/35	-
5-37337981-T-A	NUP155	c.1286A>T	p.D429V	Missense	12/35	-
11-3740666-G-A	NUP98	c.2375C>T	p.P792L	Missense	18/33	-
10-50947708-A-G	OGDHL	c.2318T>C	p.M773T	Missense	17/23	-
3-9793529-G-A	OGG1	c.461G>A	p.R154H	Missense	3/7	-
8-145114778-C-T	OPLAH	c.158G>A	p.R53H	Missense	2/28	-
2-148695732-T-A	ORC4	c.1105A>T	p.K369*	Nonsense	13/14	-
6-108385409-C-T	OSTM1	c.497G>A	p.W166*	Nonsense	2/6	-
6-108385408-C-T	OSTM1	c.498G>A	p.W166*	Nonsense	2/6	-
8-92090748-T-A	OTUD6B	c.570T>A	p.Y160*	Nonsense	4/7	-
8-92090748-T-G	OTUD6B	c.480T>G	p.Y160*	Nonsense	4/7	-
5-41762227-C-T	OXCT1	c.1324G>A	p.E442K	Missense	14/17	-
10-34985299-C-T	PARD3	c.169G>A	p.G57R	Missense	2/25	-
10-34985299-C-G	PARD3	c.169G>C	p.G57R	Missense	2/25	-
3-136016902-G-A	PCCB	c.872G>A	p.C291Y	Missense	8/15	-
14-24566139-C-G	PCK2	c.68C>G	p.S23*	Nonsense	2/10	-
14-24566162-C-T	PCK2	c.91C>T	p.R31*	Nonsense	2/10	-
21-47817328-C-T	PCNT	c.4366C>T	p.Q1456*	Nonsense	22/47	-
21-47831979-C-T	PCNT	c.5992C>T	p.Q1998*	Nonsense	28/47	-
5-58285662-C-G	PDE4D	c.1372G>C	p.D458H	Missense	10/15	-
5-58511751-C-G	PDE4D	c.499G>C	p.D167H	Missense	2/15	-
5-58511784-C-G	PDE4D	c.466G>C	p.D156H	Missense	2/15	-
1-64101908-C-T	PGM1	c.877C>T	p.R293*	Nonsense	6/11	-
1-120263830-T-G	PHGDH	c.176T>G	p.V59G	Missense	2/12	-
1-120277956-G-T	PHGDH	c.682G>T	p.G228W	Missense	7/12	-
16-88783580-C-A	PIEZO1	c.6511G>T	p.V2171F	Missense	45/51	-
4-515631-G-A	PIGG	c.1515G>A	p.W505*	Nonsense	8/13	-
19-18273240-C-T	PIK3R2	c.1033C>T	p.R345W	Missense	9/16	-
7-47847855-G-C	PKD1L1	c.7817C>G	p.S2606*	Nonsense	52/57	-
4-88964387-G-A	PKD2	c.1097G>A	p.W366*	Nonsense	5/15	-
4-88964388-G-A	PKD2	c.1098G>A	p.W366*	Nonsense	5/15	-
11-64032487-C-A	PLCB3	c.2717C>A	p.S906*	Nonsense	23/31	-
11-64032487-C-G	PLCB3	c.2717C>G	p.S906*	Nonsense	23/31	-
1-6528354-G-A	PLEKHG5	c.2542C>T	p.R848*	Nonsense	20/21	-
17-15142901-A-G	PMP22	c.206T>C	p.M69T	Missense	4/5	-
10-118315551-A-G	PNLIP	c.851A>G	p.Y284C	Missense	9/13	-
12-89885848-C-T	POC1B	c.317G>A	p.R106Q	Missense	4/12	-
15-89870450-T-A	POLG	c.1381A>T	p.K461*	Nonsense	7/23	-
9-133543692-G-A	PRDM12	c.562G>A	p.A188T	Missense	3/5	-
9-133556854-G-A	PRDM12	c.902G>A	p.C301Y	Missense	5/5	-
4-121738060-T-A	PRDM5	c.670A>T	p.K224*	Nonsense	6/16	-
4-81122553-G-C	PRDM8	c.329G>C	p.G110A	Missense	3/4	-
4-81124567-G-C	PRDM8	c.1951G>C	p.E651Q	Missense	4/4	-
19-54386447-A-T	PRKCG	c.201A>T	p.Q67H	Missense	2/18	-
19-54386447-A-C	PRKCG	c.201A>C	p.Q67H	Missense	2/18	-
14-30107992-G-A	PRKD1	c.815C>T	p.T272I	Missense	5/18	-
1-150325376-G-A	PRPF3	c.1973G>A	p.R658H	Missense	16/16	-
19-40900754-G-A	PRX	c.3505C>T	p.Q1169*	Nonsense	7/7	-
7-56087408-C-T	PSPH	c.160G>A	p.G54R	Missense	5/8	-
7-77221557-C-G	PTPN12	c.476C>G	p.P159R	Missense	6/18	-
14-51378913-G-A	PYGL	c.1729C>T	p.Q577*	Nonsense	14/20	-
4-17488827-C-T	QDPR	c.662G>A	p.R221Q	Missense	7/7	-
2-135891575-C-T	RAB3GAP1	c.1471C>T	p.R491*	Nonsense	15/24	-
8-95390578-T-C	RAD54B	c.2345A>G	p.Q782R	Missense	14/15	-
1-46726950-C-T	RAD54L	c.784C>T	p.R262C	Missense	8/18	-
1-46740280-G-A	RAD54L	c.1760G>A	p.R587Q	Missense	16/18	-
11-64502699-A-G	RASGRP2	c.1297T>C	p.S433P	Missense	12/17	-
11-64504331-T-C	RASGRP2	c.989A>G	p.N330S	Missense	9/17	-
12-56114973-G-A	RDH5	c.5G>A	p.W2*	Nonsense	2/5	-
12-56114974-G-A	RDH5	c.6G>A	p.W2*	Nonsense	2/5	-
1-8421550-C-T	RERE	c.2017G>A	p.E673K	Missense	18/23	-
1-8716080-C-T	RERE	c.277G>A	p.E93K	Missense	2/23	-
3-196214416-C-A	RNF168	c.412G>T	p.E138*	Nonsense	3/6	-
11-124745041-G-A	ROBO3	c.2108G>A	p.R703Q	Missense	14/28	-
11-62381042-C-T	ROM1	c.289C>T	p.R97*	Nonsense	1/3	-
11-62381863-C-T	ROM1	c.724C>T	p.R242*	Nonsense	2/3	-
X-18665373-C-G	RS1	c.264G>C	p.Q88H	Missense	4/6	-
9-137300846-G-A	RXRA	c.491G>A	p.R164H	Missense	4/10	-
9-137300927-G-A	RXRA	c.572G>A	p.R191H	Missense	4/10	-
19-10334863-C-T	S1PR2	c.719G>A	p.G240D	Missense	2/2	-
7-92732829-T-A	SAMD9	c.2582A>T	p.E861V	Missense	3/3	-
14-95085581-C-A	SERPINA3	c.693C>A	p.F231L	Missense	3/5	-
7-92733157-A-T	SAMD9	c.2254T>A	p.W752R	Missense	3/3	-
7-92733201-T-C	SAMD9	c.2210A>G	p.H737R	Missense	3/3	-
11-121177193-A-G	SC5D	c.442A>G	p.K148E	Missense	4/5	-
11-121178007-A-G	SC5D	c.686A>G	p.H229R	Missense	5/5	-
17-62045520-C-T	SCN4A	c.899G>A	p.W300*	Nonsense	6/24	-
17-62045519-C-T	SCN4A	c.900G>A	p.W300*	Nonsense	6/24	-
1-243468035-T-G	SDCCAG8	c.696T>G	p.Y232*	Nonsense	7/18	-
14-39534163-C-A	SEC23A	c.1262G>T	p.G421V	Missense	11/20	-
14-39532577-C-A	SEC23A	c.1349G>T	p.G450V	Missense	12/20	-
14-39545273-G-A	SEC23A	c.853C>T	p.R285C	Missense	8/20	-
14-95085579-T-C	SERPINA3	c.691T>C	p.F231L	Missense	3/5	-
14-95085581-C-G	SERPINA3	c.693C>G	p.F231L	Missense	3/5	-
X-105278335-G-A	SERPINA7	c.935C>T	p.A312V	Missense	4/5	-
1-173878734-A-G	SERPINC1	c.1109T>C	p.M370T	Missense	5/7	-
1-173883797-G-C	SERPINC1	c.302C>G	p.S101C	Missense	2/7	-
5-138287500-G-A	SIL1	c.841C>T	p.Q281*	Nonsense	8/10	-
11-2924670-T-C	SLC22A18	c.95T>C	p.L32P	Missense	2/11	-
11-2929502-G-T	SLC22A18	c.184G>T	p.G62C	Missense	3/11	-
11-2946254-C-T	SLC22A18	c.1102C>T	p.L368F	Missense	11/11	-
15-48431283-G-A	SLC24A5	c.989G>A	p.W330*	Nonsense	7/9	-
10-70246947-G-A	SLC25A16	c.796C>T	p.R266W	Missense	8/9	-
17-73282760-G-A	SLC25A19	c.86C>T	p.T29I	Missense	3/8	-
3-39433446-C-T	SLC25A38	c.559C>T	p.R187*	Nonsense	5/7	-
19-19217145-T-C	SLC25A42	c.448T>C	p.Y150H	Missense	6/8	-
5-110075080-G-A	SLC25A46	c.260G>A	p.G87D	Missense	1/8	-
5-110096971-G-A	SLC25A46	c.746G>A	p.G249D	Missense	8/8	-
5-110074927-GG-AC	SLC25A46	c.107_108delGGinsAC	p.G36D	Missense	1/8	-
6-35945057-A-G	SLC26A8	c.1097T>C	p.L366S	Missense	9/20	-
9-131117454-C-T	SLC27A4	c.1447C>T	p.Q483*	Nonsense	10/13	-
1-100480947-C-T	SLC35A3	c.724C>T	p.R242*	Nonsense	6/8	-
12-56630264-C-T	SLC39A5	c.1030C>T	p.Q344*	Nonsense	9/13	-
2-44528226-C-T	SLC3A1	c.1096C>T	p.Q366*	Nonsense	6/10	-
4-72121023-A-T	SLC4A4	c.160A>T	p.K54*	Nonsense	3/26	-
7-128846083-C-G	SMO	c.1013C>G	p.A338G	Missense	5/12	-
7-128846119-A-G	SMO	c.1049A>G	p.Y350C	Missense	5/12	-
7-128849142-T-C	SMO	c.1370T>C	p.F457S	Missense	8/12	-
11-6413349-G-T	SMPD1	c.1054G>T	p.E352*	Nonsense	2/6	-
5-122163131-C-T	SNX2	c.1414C>T	p.R472*	Nonsense	13/15	-
21-33036166-T-C	SOD1	c.136T>C	p.F46L	Missense	2/5	-
21-33036168-C-A	SOD1	c.138C>A	p.F46L	Missense	2/5	-
21-33036168-C-G	SOD1	c.138C>G	p.F46L	Missense	2/5	-
21-33038785-T-C	SOD1	c.193T>C	p.F65L	Missense	3/5	-
21-33038800-A-G	SOD1	c.208A>G	p.R70G	Missense	3/5	-
21-33039594-T-C	SOD1	c.263T>C	p.V88A	Missense	4/5	-
21-33040800-A-G	SOD1	c.374A>G	p.D125G	Missense	5/5	-
21-33040883-G-A	SOD1	c.457G>A	p.A153T	Missense	5/5	-
4-24801349-C-T	SOD3	c.206C>T	p.A69V	Missense	2/2	-
2-32362014-G-T	SPAST	c.1390G>T	p.E464*	Nonsense	11/17	-
2-32361680-G-T	SPAST	c.1294G>T	p.E432*	Nonsense	10/17	-
12-49918500-C-T	SPATS2	c.1147C>T	p.R383*	Nonsense	13/14	-
22-24810547-G-A	SPECC1L	c.3310G>A	p.V1104M	Missense	17/17	-
20-13140687-G-A	SPTLC3	c.1453G>A	p.V485M	Missense	11/12	-
8-74621271-G-T	STAU2	c.110C>A	p.S37*	Nonsense	4/15	-
8-74621271-G-C	STAU2	c.110C>G	p.S37*	Nonsense	4/15	-
20-43629126-C-T	STK4	c.925C>T	p.Q309*	Nonsense	8/11	-
3-4494720-G-A	SUMF1	c.284C>T	p.P95L	Missense	2/9	-
12-56397769-C-T	SUOX	c.596C>T	p.P199L	Missense	5/5	-
12-56397802-C-T	SUOX	c.629C>T	p.P210L	Missense	5/5	-
12-56397822-C-T	SUOX	c.649C>T	p.R217W	Missense	5/5	-
12-56398248-C-T	SUOX	c.1075C>T	p.R359C	Missense	5/5	-
12-56398270-G-A	SUOX	c.1097G>A	p.R366H	Missense	5/5	-
6-32815422-A-G	TAP1	c.1951T>C	p.F591L	Missense	9/11	-
6-32815420-A-T	TAP1	c.1773T>A	p.F591L	Missense	9/11	-
6-32815420-A-C	TAP1	c.1773T>G	p.F591L	Missense	9/11	-
6-32815422-A-C	TAP1	c.1951T>G	p.F591V	Missense	9/11	-
6-32816448-G-A	TAP1	c.1727C>T	p.P516L	Missense	7/11	-
6-32816488-C-A	TAP1	c.1687G>T	p.V503F	Missense	7/11	-
6-32818813-T-C	TAP1	c.1138A>G	p.M320V	Missense	4/11	-
6-32819948-T-G	TAP1	c.962A>C	p.Q261P	Missense	3/11	-
16-71609825-C-T	TAT	c.340G>A	p.G114S	Missense	3/12	-
12-64891021-T-A	TBK1	c.1941T>A	p.Y647*	Nonsense	18/21	-
12-64891021-T-G	TBK1	c.1941T>G	p.Y647*	Nonsense	18/21	-
11-121000698-C-T	TECTA	c.2719C>T	p.R907*	Nonsense	10/24	-
16-1552987-G-A	TELO2	c.1826G>A	p.R609H	Missense	15/21	-
11-78380192-T-C	TENM4	c.7198A>G	p.I2400V	Missense	32/34	-
3-133475780-C-T	TF	c.797C>T	p.P266L	Missense	7/17	-
10-60154776-A-T	TFAM	c.683A>T	p.K228M	Missense	7/7	-
3-195789807-C-G	TFRC	c.1322G>C	p.G441A	Missense	12/19	-
13-95243112-T-A	TGDS	c.308A>T	p.H103L	Missense	4/12	-
16-3076413-A-G	THOC6	c.410A>G	p.K137R	Missense	6/13	-
16-3076692-G-A	THOC6	c.496G>A	p.G166S	Missense	8/13	-
13-52971367-C-A	THSD1	c.1021G>T	p.E341*	Nonsense	3/5	-
4-166978426-G-T	TLL1	c.1811G>T	p.G604V	Missense	14/21	-
4-166981213-G-T	TLL1	c.1880G>T	p.G627V	Missense	15/21	-
4-166996129-A-G	TLL1	c.2288A>G	p.H763R	Missense	17/21	-
9-35718889-G-A	TLN1	c.1915C>T	p.Q639*	Nonsense	17/57	-
6-31544981-G-T	TNF	c.369G>T	p.Q123H	Missense	4/4	-
6-31544981-G-C	TNF	c.369G>C	p.Q123H	Missense	4/4	-
6-31545193-T-A	TNF	c.581T>A	p.I194N	Missense	4/4	-
17-16843692-G-T	TNFRSF13B	c.579C>A	p.C193*	Nonsense	4/5	-
1-1148443-G-A	TNFRSF4	c.299C>T	p.T100M	Missense	3/7	-
3-189587160-CGA-TGT	TP63	c.1177_1179delCGAinsTGT	p.R393C	Missense	9/14	-
3-189612062-G-A	TP63	c.1814G>A	p.R605Q	Missense	14/14	-
12-6979237-C-T	TPI1	c.568C>T	p.R190*	Nonsense	6/7	-
11-6636123-G-A	TPP1	c.1525C>T	p.Q509*	Nonsense	12/13	-
2-239233992-G-T	TRAF3IP1	c.169G>T	p.E57*	Nonsense	2/17	-
4-184587545-C-T	TRAPPC11	c.340C>T	p.Q114*	Nonsense	3/30	-
4-184605949-C-T	TRAPPC11	c.1522C>T	p.Q508*	Nonsense	15/30	-
6-123687319-G-A	TRDN	c.1282C>T	p.R428*	Nonsense	20/41	-
4-122854142-G-C	TRPC3	c.271C>G	p.R91G	Missense	2/12	-
12-110226215-C-T	TRPV4	c.2198G>A	p.W733*	Nonsense	13/16	-
16-89999027-T-A	TUBB3	c.106T>A	p.Y36N	Missense	2/4	-
16-90001497-G-A	TUBB3	c.638G>A	p.R213H	Missense	4/4	-
6-35467877-A-G	TULP1	c.1376T>C	p.I459T	Missense	14/15	-
11-88911756-G-A	TYR	c.635G>A	p.R212K	Missense	1/5	-
9-12695547-G-T	TYRP1	c.418G>T	p.E140*	Nonsense	3/8	-
1-202304124-G-C	UBE2T	c.172C>G	p.P58A	Missense	3/7	-
4-41263938-C-T	UCHL1	c.457C>T	p.R153W	Missense	6/9	-
17-33477096-G-T	UNC45B	c.235G>T	p.A79S	Missense	4/20	-
17-33510446-G-A	UNC45B	c.2374G>A	p.V792I	Missense	19/20	-
12-109541249-C-G	UNG	c.634C>G	p.L212V	Missense	6/7	-
11-17530905-T-A	USH1C	c.2011A>T	p.K671*	Nonsense	18/27	-
1-215848679-G-A	USH2A	c.12574C>T	p.R4192C	Missense	63/72	-
6-31759513-C-G	VARS1	c.974G>C	p.R325P	Missense	8/30	-
9-35064264-T-G	VCP	c.595A>C	p.N199H	Missense	6/17	-
12-48238705-G-C	VDR	c.1108C>G	p.R370G	Missense	10/10	-
12-48238711-G-A	VDR	c.1102C>T	p.R368C	Missense	10/10	-
12-48251450-A-G	VDR	c.299T>C	p.V100A	Missense	5/10	-
12-48272845-G-A	VDR	c.52C>T	p.R18W	Missense	3/10	-
16-31102520-C-T	VKORC1	c.427G>A	p.V143M	Missense	3/3	-
11-118940182-G-A	VPS11	c.364G>A	p.G122S	missense_variant	4/17	-
11-118941057-C-G	VPS11	c.583C>G	p.Q195E	missense_variant	5/17	-
11-118948633-C-G	VPS11	c.1615C>G	p.Q539E	missense_variant	11/17	-
11-118948634-A-G	VPS11	c.1616A>G	p.Q539R	missense_variant	11/17	-
11-118949519-T-C	VPS11	c.2075T>C	p.M692T	missense_variant	14/17	-
11-118949572-C-T	VPS11	c.2128C>T	p.R710C	missense_variant	14/17	-
11-118949623-G-A	VPS11	c.2179G>A	p.A727T	missense_variant	14/17	-
11-118949623-G-C	VPS11	c.2179G>C	p.A727P	missense_variant	14/17	-
11-118949623-G-T	VPS11	c.2179G>T	p.A727S	missense_variant	14/17	-
11-118949901-C-A	VPS11	c.2326C>A	p.Q776K	missense_variant	15/17	-
15-62199549-G-A	VPS13C	c.9019C>T	p.R3007*	Nonsense	66/85	-
1-150049784-G-A	VPS45	c.614G>A	p.R205H	Missense	7/15	-
1-150053494-C-T	VPS45	c.758C>T	p.P253L	Missense	8/15	-
5-132099979-A-G	SEPTIN8	c.284T>C	p.V95A	Missense	3/10	-
2-20145702-G-A	WDR35	c.1690C>T	p.R564*	Nonsense	16/27	-
7-158662599-G-A	DYNC2I1	c.69G>A	p.W23*	Nonsense	2/25	-
22-41320390-C-G	XPNPEP3	c.1261C>G	p.H421D	Missense	9/10	-
22-41320442-G-A	XPNPEP3	c.1313G>A	p.R438H	Missense	9/10	-
1-180775217-T-C	XPR1	c.467T>C	p.F156S	Missense	5/15	-
2-98341664-A-G	ZAP70	c.512A>G	p.E171G	Missense	4/14	-
2-98351783-C-T	ZAP70	c.1153C>T	p.R385C	Missense	10/14	-
14-105267650-G-C	ZBTB42	c.116G>C	p.R39P	Missense	1/1	-
14-105267685-C-T	ZBTB42	c.151C>T	p.L51F	Missense	1/1	-
1-52703892-C-A	ZFYVE9	c.803C>A	p.S268*	Nonsense	4/19	-
1-52703892-C-G	ZFYVE9	c.803C>G	p.S268*	Nonsense	4/19	-
17-4645715-G-A	ZMYND15	c.1073G>A	p.W358*	Nonsense	5/14	-
17-4645716-G-A	ZMYND15	c.1074G>A	p.W358*	Nonsense	5/14	-
17-4647310-G-A	ZMYND15	c.1403G>A	p.W468*	Nonsense	8/14	-
1-220960497-G-A	MTARC1	c.211G>A	p.G71R	Missense	1/7	-
1-220936372-G-A	MTARC2	c.730G>A	p.G244S	Missense	4/8	-
19-8503282-G-A	MARCHF2	c.593G>A	p.R198H	Missense	5/5	-
5-10377927-C-T	MARCHF6	c.37C>T	p.R13W	Missense	2/26	-
12-58152378-C-T	MARCHF9	c.739C>T	p.R247C	Missense	4/4	-
12-58152660-A-G	MARCHF9	c.1021A>G	p.M341V	Missense	4/4	-
17-60802418-C-T	MARCHF10	c.1985G>A	p.C662Y	Missense	7/11	-
22-19708122-A-G	SEPTIN5	c.548A>G	p.N183S	Missense	7/12	-
X-118771108-G-C	SEPTIN6	c.838C>G	p.R280G	Missense	7/11	-
X-118797599-A-G	SEPTIN6	c.187T>C	p.F63L	Missense	3/11	-
5-132097207-C-T	SEPTIN8	c.905G>A	p.R302H	Missense	7/10	-
5-132101148-A-G	SEPTIN8	c.104T>C	p.V35A	Missense	2/10	-
5-132100013-G-A	SEPTIN8	c.250C>T	p.R84W	Missense	3/10	-
5-132101185-C-T	SEPTIN8	c.67G>A	p.G23S	Missense	2/10	-
17-75478411-G-A	SEPTIN9	c.907G>A	p.V303M	Missense	4/12	-
2-110323408-C-T	SEPTIN10	c.791G>A	p.S264N	Missense	7/11	-
2-110342825-TGA-GTT	SEPTIN10	c.289_291delTCAinsAAC	p.S97N	Missense	4/11	-
2-110342893-T-C	SEPTIN10	c.223A>G	p.T75A	Missense	4/11	-
16-4833669-C-T	SEPTIN12	c.611G>A	p.R204Q	Missense	6/10	-
16-4833938-C-T	SEPTIN12	c.506G>A	p.G169E	Missense	5/10	-
16-4835841-G-A	SEPTIN12	c.341C>T	p.P114L	Missense	4/10	-
16-4836064-A-C	SEPTIN12	c.209T>G	p.F70C	Missense	3/10	-
7-55914237-C-T	SEPTIN14	c.148G>A	p.G50R	Missense	3/10	-
7-55914237-C-G	SEPTIN14	c.148G>C	p.G50R	Missense	3/10	-
19-58862780-G-A	A1BG	c.887C>T	p.P296L	Missense	5/8	-
12-9221342-C-T	A2M	c.4360G>A	p.E1454K	Missense	34/36	-
12-9224998-C-T	A2M	c.4060G>A	p.E1354K	Missense	31/36	-
12-9222385-G-A	A2M	c.4219C>T	p.R1407W	Missense	33/36	-
12-9232312-T-C	A2M	c.2954A>G	p.Y985C	Missense	24/36	-
12-9251244-C-G	A2M	c.1810G>C	p.V604L	Missense	15/36	-
12-9251244-C-A	A2M	c.1810G>T	p.V604L	Missense	15/36	-
12-9251262-G-A	A2M	c.1792C>T	p.R598C	Missense	15/36	-
12-9259164-G-T	A2M	c.917C>A	p.T306N	Missense	9/36	-
12-9262475-C-T	A2M	c.661G>A	p.V221M	Missense	6/36	-
12-9262615-C-T	A2M	c.521G>A	p.R174H	Missense	6/36	-
12-9004388-G-A	A2ML1	c.2243G>A	p.G748E	Missense	19/36	-
12-9009820-G-A	A2ML1	c.2909G>A	p.C970Y	Missense	24/36	-
12-9009835-T-C	A2ML1	c.2924T>C	p.M975T	Missense	24/36	-
12-9013481-G-A	A2ML1	c.3269G>A	p.G1090D	Missense	27/36	-
22-43089668-G-A	A4GALT	c.290C>T	p.S97L	Missense	3/3	-
12-53701466-G-A	AAAS	c.1448C>T	p.P483L	Missense	16/16	-
12-53702520-G-A	AAAS	c.1076C>T	p.P359L	Missense	11/16	-
12-53701695-C-G	AAAS	c.1350G>C	p.E450D	Missense	15/16	-
12-53701857-G-C	AAAS	c.1310C>G	p.P437R	Missense	14/16	-
12-53702581-C-G	AAAS	c.1015G>C	p.D339H	Missense	11/16	-
12-53702751-C-T	AAAS	c.989G>A	p.R330H	Missense	10/16	-
12-53708133-C-G	AAAS	c.638G>C	p.C213S	Missense	7/16	-
12-125561098-A-G	AACS	c.299A>G	p.N100S	Missense	3/18	-
12-125609273-G-A	AACS	c.1144G>A	p.A382T	Missense	11/18	-
12-125609529-A-G	AACS	c.1268A>G	p.Y423C	Missense	12/18	-
3-151535176-G-A	AADAC	c.161G>A	p.G54E	Missense	2/5	-
3-151458626-C-G	AADACL2	c.331C>G	p.H111D	Missense	2/5	-
1-12785608-T-A	AADACL3	c.869T>A	p.I290N	missense_variant	4/4	-
1-12726496-C-G	AADACL4	c.974C>G	p.P325R	Missense	4/4	-
9-99404124-G-C	PRXL2C	c.598C>G	p.H200D	Missense	6/6	-
9-99417386-C-T	PRXL2C	c.178G>A	p.V60M	Missense	1/6	-
2-219132282-C-A	AAMP	c.329G>T	p.G110V	Missense	3/11	-
2-219132279-C-A	AAMP	c.332G>T	p.G111V	Missense	3/11	-
2-219134188-C-A	AAMP	c.191G>T	p.G64V	Missense	2/11	-
17-74464920-C-T	AANAT	c.92C>T	p.T31I	Missense	2/4	-
17-74465302-C-T	AANAT	c.211C>T	p.R71W	Missense	3/4	-
16-70286740-C-T	AARS1	c.2791G>A	p.G931S	Missense	21/21	-
16-70295023-C-A	AARS1	c.1709G>T	p.G570V	Missense	13/21	-
16-70304215-G-A	AARS1	c.700C>T	p.P234S	Missense	6/21	-
16-70305774-C-T	AARS1	c.581G>A	p.R194Q	Missense	5/21	-
16-70305830-G-C	AARS1	c.525C>G	p.F175L	Missense	5/21	-
6-44270870-C-T	AARS2	c.2188G>A	p.V730M	Missense	16/22	-
6-44272177-C-T	AARS2	c.1846G>A	p.V616M	Missense	13/22	-
6-44272836-C-G	AARS2	c.1534G>C	p.D512H	Missense	11/22	-
17-41107982-T-G	PTGES3L-AARSD1	c.1010A>C	p.K337T	Missense	12/17	-
17-41116127-C-T	AARSD1	c.167G>A	p.G56E	Missense	2/12	-
17-41116242-C-T	AARSD1	c.52G>A	p.V18M	Missense	2/12	-
4-57209093-G-A	AASDH	c.2815C>T	p.P939S	Missense	14/15	-
4-57204933-G-A	AASDH	c.2932C>T	p.P978S	Missense	15/15	-
4-57237713-A-C	AASDH	c.765T>G	p.S255R	Missense	5/15	-
4-57244392-T-A	AASDH	c.590A>T	p.H197L	Missense	4/15	-
7-121755144-G-C	AASS	c.1027C>G	p.P343A	Missense	9/24	-
7-121755199-A-C	AASS	c.972T>G	p.D324E	Missense	9/24	-
7-121755199-A-T	AASS	c.972T>A	p.D324E	Missense	9/24	-
7-121758435-T-A	AASS	c.613A>T	p.I205L	Missense	6/24	-
7-121769422-A-G	AASS	c.380T>C	p.L127P	Missense	3/24	-
17-79093198-C-A	AATK	c.4066G>T	p.D1356Y	Missense	13/14	-
17-79094984-C-T	AATK	c.2752G>A	p.E918K	Missense	11/14	-
17-79096100-C-G	AATK	c.1636G>C	p.D546H	Missense	11/14	-
17-79098785-G-A	AATK	c.785C>T	p.T262M	Missense	8/14	-
17-79100330-G-A	AATK	c.652C>T	p.R218W	Missense	7/14	-
17-79104986-C-G	AATK	c.209G>C	p.G70A	Missense	3/14	-
9-107554275-T-C	ABCA1	c.5762A>G	p.Y1921C	Missense	43/50	-
9-107573154-C-T	ABCA1	c.4102G>A	p.V1368M	Missense	29/50	-
9-107574874-C-T	ABCA1	c.4031G>A	p.R1344Q	Missense	28/50	-
9-107582258-T-C	ABCA1	c.3053A>G	p.D1018G	Missense	21/50	-
9-107582289-C-T	ABCA1	c.3022G>A	p.V1008M	Missense	21/50	-
9-107588128-T-C	ABCA1	c.2378A>G	p.Y793C	Missense	17/50	-
9-107593245-T-C	ABCA1	c.1853A>G	p.Y618C	Missense	14/50	-
9-107651440-T-C	ABCA1	c.103A>G	p.I35V	Missense	3/50	-
2-215798885-C-T	ABCA12	c.7597G>A	p.A2533T	Missense	52/53	-
2-215813822-T-G	ABCA12	c.6904A>C	p.M2302L	Missense	46/53	-
2-215813822-T-A	ABCA12	c.6904A>T	p.M2302L	Missense	46/53	-
2-215818762-C-T	ABCA12	c.6463G>A	p.G2155S	Missense	44/53	-
2-215821412-C-T	ABCA12	c.6208G>A	p.V2070I	Missense	42/53	-
2-215831644-G-A	ABCA12	c.5812C>T	p.P1938S	Missense	39/53	-
2-215833458-T-C	ABCA12	c.5764A>G	p.R1922G	Missense	38/53	-
2-215835034-A-G	ABCA12	c.5653T>C	p.Y1885H	Missense	37/53	-
2-215840669-G-A	ABCA12	c.5221C>T	p.R1741C	Missense	34/53	-
2-215848503-C-T	ABCA12	c.4250G>A	p.R1417Q	Missense	29/53	-
2-215882820-A-C	ABCA12	c.1694T>G	p.L565R	Missense	14/53	-
2-215928906-A-T	ABCA12	c.200T>A	p.F67Y	Missense	3/53	-
7-48232580-T-C	ABCA13	c.94T>C	p.W32R	Missense	2/62	-
7-48288897-G-A	ABCA13	c.1954G>A	p.E652K	Missense	15/62	-
7-48311533-T-G	ABCA13	c.2270T>G	p.F757C	Missense	17/62	-
7-48311884-C-T	ABCA13	c.2621C>T	p.S874F	Missense	17/62	-
7-48312723-T-G	ABCA13	c.3460T>G	p.W1154G	Missense	17/62	-
7-48314389-T-C	ABCA13	c.5126T>C	p.L1709P	Missense	17/62	-
7-48317849-T-A	ABCA13	c.7058T>A	p.F2353Y	Missense	18/62	-
7-48352767-T-C	ABCA13	c.9620T>C	p.L3207P	Missense	25/62	-
7-48353991-A-G	ABCA13	c.9844A>G	p.I3282V	Missense	26/62	-
7-48356757-C-T	ABCA13	c.9863C>T	p.P3288L	Missense	27/62	-
7-48378029-T-A	ABCA13	c.10181T>A	p.L3394H	Missense	29/62	-
7-48390326-G-A	ABCA13	c.10291G>A	p.V3431M	Missense	30/62	-
7-48391927-C-G	ABCA13	c.10531C>G	p.Q3511E	Missense	31/62	-
7-48411772-G-A	ABCA13	c.10811G>A	p.R3604Q	Missense	33/62	-
7-48414004-C-A	ABCA13	c.11194C>A	p.Q3732K	Missense	34/62	-
7-48431604-G-C	ABCA13	c.11741G>C	p.R3914T	Missense	38/62	-
7-48450140-C-T	ABCA13	c.12094C>T	p.H4032Y	Missense	40/62	-
7-48450185-C-G	ABCA13	c.12139C>G	p.L4047V	Missense	40/62	-
7-48520660-C-G	ABCA13	c.13003C>G	p.P4335A	Missense	46/62	-
7-48520702-T-C	ABCA13	c.13045T>C	p.S4349P	Missense	46/62	-
7-48547481-C-T	ABCA13	c.13360C>T	p.R4454C	Missense	50/62	-
7-48547511-C-A	ABCA13	c.13390C>A	p.L4464M	Missense	50/62	-
7-48550771-C-T	ABCA13	c.13616C>T	p.T4539M	Missense	51/62	-
7-48556342-G-A	ABCA13	c.13662G>A	p.M4554I	Missense	52/62	-
7-48556448-C-T	ABCA13	c.13768C>T	p.R4590W	Missense	52/62	-
9-139909992-G-A	ABCA2	c.3571C>T	p.R1191C	Missense	24/49	-
9-139910168-G-A	ABCA2	c.3473C>T	p.A1158V	Missense	23/49	-
9-139910287-G-T	ABCA2	c.3354C>A	p.H1118Q	Missense	23/49	-
9-139910287-G-C	ABCA2	c.3354C>G	p.H1118Q	Missense	23/49	-
9-139910786-C-A	ABCA2	c.3061G>T	p.V1021F	Missense	21/49	-
9-139910787-CAC-AAA	ABCA2	c.3058_3060delGTGinsTTT	p.V1020F	Missense	21/49	-
9-139910828-C-T	ABCA2	c.3019G>A	p.A1007T	Missense	21/49	-
9-139911032-G-A	ABCA2	c.2917C>T	p.R973C	Missense	20/49	-
9-139911033-CCG-ACA	ABCA2	c.2914_2916delCGGinsTGT	p.R972C	Missense	20/49	-
16-2328293-G-A	ABCA3	c.4714C>T	p.H1572Y	Missense	30/33	-
16-2329055-A-G	ABCA3	c.4436T>C	p.M1479T	Missense	29/33	-
16-2334358-T-C	ABCA3	c.3784A>G	p.S1262G	Missense	25/33	-
16-2334866-G-A	ABCA3	c.3617C>T	p.A1206V	Missense	24/33	-
16-2334904-G-C	ABCA3	c.3579C>G	p.I1193M	Missense	24/33	-
16-2336909-G-A	ABCA3	c.3064C>T	p.R1022W	Missense	22/33	-
16-2338141-C-T	ABCA3	c.2890G>A	p.G964S	Missense	21/33	-
16-2338299-A-G	ABCA3	c.2732T>C	p.M911T	Missense	21/33	-
16-2345661-G-C	ABCA3	c.2344C>G	p.P782A	Missense	18/33	-
16-2347416-G-A	ABCA3	c.2177C>T	p.A726V	Missense	17/33	-
16-2347468-G-A	ABCA3	c.2125C>T	p.R709W	Missense	17/33	-
16-2347515-G-A	ABCA3	c.2078C>T	p.S693L	Missense	17/33	-
16-2369821-G-T	ABCA3	c.634C>A	p.L212M	Missense	8/33	-
1-94476842-C-A	ABCA4	c.5560G>T	p.V1854L	Missense	39/50	-
1-94485278-C-T	ABCA4	c.5056G>A	p.V1686M	Missense	36/50	-
1-94502328-G-A	ABCA4	c.3830C>T	p.T1277M	Missense	26/50	-
1-94528143-C-T	ABCA4	c.1927G>A	p.V643M	Missense	13/50	-
1-94528729-C-T	ABCA4	c.1699G>A	p.V567M	Missense	12/50	-
1-94564483-C-T	ABCA4	c.635G>A	p.R212H	Missense	6/50	-
17-67246743-G-A	ABCA5	c.4555C>T	p.H1519Y	Missense	36/39	-
17-67247900-G-C	ABCA5	c.4523C>G	p.S1508C	Missense	35/39	-
17-67266782-A-G	ABCA5	c.3002T>C	p.I1001T	Missense	22/39	-
17-67267320-C-T	ABCA5	c.2875G>A	p.V959M	Missense	21/39	-
17-67270252-A-G	ABCA5	c.2612T>C	p.I871T	Missense	20/39	-
17-67280210-A-C	ABCA5	c.2276T>G	p.L759W	Missense	18/39	-
17-67287450-A-G	ABCA5	c.1513T>C	p.Y505H	Missense	12/39	-
17-67287465-A-C	ABCA5	c.1498T>G	p.L500V	Missense	12/39	-
17-67300910-A-T	ABCA5	c.830T>A	p.M277K	Missense	7/39	-
17-67303085-T-C	ABCA5	c.569A>G	p.N190S	Missense	6/39	-
17-67075140-G-A	ABCA6	c.4828C>T	p.L1610F	Missense	39/39	-
17-67077237-G-T	ABCA6	c.4666C>A	p.L1556I	Missense	37/39	-
17-67080435-G-A	ABCA6	c.4322C>T	p.T1441M	Missense	34/39	-
17-67083496-C-T	ABCA6	c.3817G>A	p.E1273K	Missense	29/39	-
17-67099034-C-A	ABCA6	c.2816G>T	p.R939I	Missense	21/39	-
17-67110991-T-C	ABCA6	c.1694A>G	p.N565S	Missense	13/39	-
17-67111550-T-A	ABCA6	c.1573A>T	p.N525Y	Missense	12/39	-
17-67111603-C-G	ABCA6	c.1520G>C	p.G507A	Missense	12/39	-
17-67125797-C-A	ABCA6	c.887G>T	p.G296V	Missense	7/39	-
17-67129888-G-A	ABCA6	c.685C>T	p.L229F	Missense	6/39	-
19-1041385-C-A	ABCA7	c.25C>A	p.L9M	Missense	2/47	-
19-1041905-A-C	ABCA7	c.236A>C	p.N79T	Missense	4/47	-
19-1041935-A-C	ABCA7	c.266A>C	p.E89A	Missense	4/47	-
19-1045026-C-T	ABCA7	c.1241C>T	p.A414V	Missense	12/47	-
19-1045215-A-G	ABCA7	c.1430A>G	p.N477S	Missense	12/47	-
19-1046239-C-G	ABCA7	c.1456C>G	p.P486A	Missense	13/47	-
19-1046291-T-C	ABCA7	c.1508T>C	p.F503S	Missense	13/47	-
19-1046842-C-T	ABCA7	c.1664C>T	p.T555M	Missense	14/47	-
19-1046986-T-C	ABCA7	c.1808T>C	p.F603S	Missense	14/47	-
19-1047169-T-C	ABCA7	c.1859T>C	p.L620P	Missense	15/47	-
19-1047262-C-G	ABCA7	c.1952C>G	p.S651C	Missense	15/47	-
19-1047560-G-T	ABCA7	c.2176G>T	p.D726Y	Missense	16/47	-
19-1049292-T-G	ABCA7	c.2408T>G	p.L803R	Missense	18/47	-
19-1049318-C-A	ABCA7	c.2434C>A	p.L812M	Missense	18/47	-
19-1051005-C-T	ABCA7	c.2638C>T	p.R880W	Missense	19/47	-
19-1051006-G-A	ABCA7	c.2639G>A	p.R880Q	Missense	19/47	-
19-1051516-G-A	ABCA7	c.2893G>A	p.E965K	Missense	21/47	-
19-1051944-G-A	ABCA7	c.2966G>A	p.R989H	Missense	22/47	-
19-1052021-C-T	ABCA7	c.3043C>T	p.R1015C	Missense	22/47	-
19-1053504-G-A	ABCA7	c.3397G>A	p.G1133R	Missense	24/47	-
19-1053504-G-C	ABCA7	c.3397G>C	p.G1133R	Missense	24/47	-
19-1053513-G-A	ABCA7	c.3406G>A	p.D1136N	Missense	24/47	-
19-1054324-G-A	ABCA7	c.3710G>A	p.R1237H	Missense	27/47	-
19-1055185-G-A	ABCA7	c.4040G>A	p.C1347Y	Missense	30/47	-
19-1055248-C-T	ABCA7	c.4103C>T	p.P1368L	Missense	30/47	-
19-1056183-C-T	ABCA7	c.4357C>T	p.R1453C	Missense	32/47	-
19-1057343-G-A	ABCA7	c.4795G>A	p.V1599M	Missense	35/47	-
19-1057960-G-A	ABCA7	c.4927G>A	p.V1643M	Missense	36/47	-
19-1063637-C-T	ABCA7	c.5807C>T	p.T1936M	Missense	43/47	-
19-1063859-A-G	ABCA7	c.5948A>G	p.H1983R	Missense	44/47	-
17-66981048-G-T	ABCA9	c.4357C>A	p.P1453T	Missense	34/39	-
17-66986056-C-T	ABCA9	c.3853G>A	p.A1285T	Missense	30/39	-
17-66988398-G-A	ABCA9	c.3634C>T	p.H1212Y	Missense	28/39	-
17-67004283-T-A	ABCA9	c.3241A>T	p.I1081F	Missense	24/39	-
17-67014562-T-C	ABCA9	c.2759A>G	p.N920S	Missense	20/39	-
17-67023242-T-C	ABCA9	c.1925A>G	p.D642G	Missense	15/39	-
17-67023493-A-T	ABCA9	c.1889T>A	p.I630N	Missense	14/39	-
17-67023942-A-T	ABCA9	c.1630T>A	p.Y544N	Missense	13/39	-
1-229666015-C-G	ABCB10	c.1576G>C	p.V526L	Missense	8/13	-
2-169783728-C-T	ABCB11	c.3556G>A	p.E1186K	Missense	26/28	-
2-169814589-C-G	ABCB11	c.2228G>C	p.R743T	Missense	19/28	-
2-169826015-G-A	ABCB11	c.1856C>T	p.T619M	Missense	16/28	-
2-169826590-C-G	ABCB11	c.1774G>C	p.E592Q	Missense	15/28	-
2-169833124-T-G	ABCB11	c.1271A>C	p.N424T	Missense	12/28	-
2-169842655-C-G	ABCB11	c.1048G>C	p.D350H	Missense	10/28	-
2-169842772-C-T	ABCB11	c.931G>A	p.A311T	Missense	10/28	-
2-169847368-A-G	ABCB11	c.851T>C	p.V284A	Missense	9/28	-
2-169869935-A-T	ABCB11	c.236T>A	p.V79E	Missense	5/28	-
7-87069594-C-T	ABCB4	c.1481G>A	p.R494H	Missense	13/28	-
7-87082366-G-C	ABCB4	c.430C>G	p.R144G	Missense	6/28	-
7-20685748-G-A	ABCB5	c.968G>A	p.G323E	Missense	9/28	-
7-20687600-A-G	ABCB5	c.1105A>G	p.I369V	Missense	11/28	-
7-20687604-A-G	ABCB5	c.1109A>G	p.D370G	Missense	11/28	-
7-20687678-T-G	ABCB5	c.1183T>G	p.Y395D	Missense	11/28	-
7-20698201-C-T	ABCB5	c.1609C>T	p.R537C	Missense	14/28	-
7-20721141-G-A	ABCB5	c.1721G>A	p.R574Q	Missense	15/28	-
7-20721260-G-C	ABCB5	c.1840G>C	p.G614R	Missense	15/28	-
7-20739693-G-A	ABCB5	c.2272G>A	p.G758S	Missense	19/28	-
7-20744360-T-G	ABCB5	c.2351T>G	p.F784C	Missense	20/28	-
7-20762799-G-C	ABCB5	c.2582G>C	p.G861A	Missense	21/28	-
7-20766694-C-G	ABCB5	c.2657C>G	p.T886S	Missense	22/28	-
7-20782621-T-C	ABCB5	c.3146T>C	p.V1049A	Missense	25/28	-
7-20784936-C-A	ABCB5	c.3304C>A	p.L1102I	Missense	26/28	-
7-20785002-G-A	ABCB5	c.3370G>A	p.E1124K	Missense	26/28	-
7-20793113-A-G	ABCB5	c.3560A>G	p.D1187G	Missense	27/28	-
7-150730966-C-G	ABCB8	c.370C>G	p.L124V	Missense	2/16	-
7-150731381-G-A	ABCB8	c.430G>A	p.V144M	Missense	3/16	-
7-150731408-G-A	ABCB8	c.457G>A	p.G153S	Missense	3/16	-
7-150731875-G-A	ABCB8	c.724G>A	p.V242M	Missense	5/16	-
7-150732675-G-A	ABCB8	c.773G>A	p.R258Q	Missense	6/16	-
7-150732812-C-T	ABCB8	c.910C>T	p.R304C	Missense	6/16	-
7-150737646-T-A	ABCB8	c.1313T>A	p.I438N	Missense	11/16	-
7-150738260-G-C	ABCB8	c.1558G>C	p.D520H	Missense	13/16	-
7-150739109-C-G	ABCB8	c.1679C>G	p.S560C	Missense	14/16	-
7-150741183-C-T	ABCB8	c.1891C>T	p.R631W	Missense	15/16	-
12-123414625-C-A	ABCB9	c.2134G>T	p.V712L	Missense	12/12	-
12-123444361-C-T	ABCB9	c.422G>A	p.R141Q	Missense	2/12	-
12-123430687-C-T	ABCB9	c.1136G>A	p.R379Q	Missense	6/12	-
12-123433299-G-A	ABCB9	c.925C>T	p.R309W	Missense	5/12	-
12-123444551-G-A	ABCB9	c.232C>T	p.R78W	Missense	2/12	-
16-16126987-G-T	ABCC1	c.637G>T	p.A213S	Missense	6/31	-
16-16130450-A-C	ABCC1	c.799A>C	p.K267Q	Missense	7/31	-
16-16138528-A-C	ABCC1	c.1031A>C	p.Q344P	Missense	8/31	-
16-16200716-G-C	ABCC1	c.2857G>C	p.A953P	Missense	21/31	-
16-16170206-G-A	ABCC1	c.1936G>A	p.V646M	Missense	15/31	-
16-16205244-G-A	ABCC1	c.2884G>A	p.V962M	Missense	22/31	-
16-16208739-C-T	ABCC1	c.3196C>T	p.R1066W	Missense	23/31	-
16-16208851-G-A	ABCC1	c.3308G>A	p.G1103D	Missense	23/31	-
16-16208889-G-A	ABCC1	c.3346G>A	p.A1116T	Missense	23/31	-
16-16180786-G-A	ABCC1	c.2398G>A	p.A800T	Missense	18/31	-
16-16208928-G-A	ABCC1	c.3385G>A	p.V1129I	Missense	23/31	-
16-16215877-G-A	ABCC1	c.3436G>A	p.V1146I	Missense	24/31	-
16-16225713-G-A	ABCC1	c.3887G>A	p.R1296Q	Missense	27/31	-
6-43413658-C-T	ABCC10	c.3352C>T	p.R1118W	Missense	15/22	-
16-16225727-C-T	ABCC1	c.3901C>T	p.R1301C	Missense	27/31	-
16-16230476-T-A	ABCC1	c.4267T>A	p.C1423S	Missense	29/31	-
16-16232319-C-T	ABCC1	c.4391C>T	p.T1464M	Missense	30/31	-
16-16235037-G-A	ABCC1	c.4495G>A	p.V1499I	Missense	31/31	-
6-43400839-G-A	ABCC10	c.1121G>A	p.R374H	Missense	3/22	-
6-43400850-G-A	ABCC10	c.1132G>A	p.G378R	Missense	3/22	-
6-43400974-T-C	ABCC10	c.1256T>C	p.V419A	Missense	3/22	-
6-43401027-A-G	ABCC10	c.1309A>G	p.N437D	Missense	3/22	-
6-43403496-C-T	ABCC10	c.1616C>T	p.T539M	Missense	5/22	-
6-43403926-T-C	ABCC10	c.1816T>C	p.S606P	Missense	6/22	-
6-43413652-G-A	ABCC10	c.3346G>A	p.V1116M	Missense	15/22	-
6-43413574-C-T	ABCC10	c.3268C>T	p.R1090W	Missense	15/22	-
6-43415482-C-T	ABCC10	c.3766C>T	p.R1256W	Missense	18/22	-
6-43415483-G-A	ABCC10	c.3767G>A	p.R1256Q	Missense	18/22	-
6-43415558-G-A	ABCC10	c.3842G>A	p.R1281H	Missense	18/22	-
10-101556895-A-G	ABCC2	c.674A>G	p.D225G	Missense	7/32	-
10-101559094-A-G	ABCC2	c.998A>G	p.D333G	Missense	8/32	-
10-101578655-C-T	ABCC2	c.2380C>T	p.H794Y	Missense	18/32	-
10-101578683-T-C	ABCC2	c.2408T>C	p.V803A	Missense	18/32	-
10-101591492-G-T	ABCC2	c.3008G>T	p.W1003L	Missense	22/32	-
10-101591737-T-C	ABCC2	c.3107T>C	p.I1036T	Missense	23/32	-
13-95829970-A-G	ABCC4	c.1718T>C	p.L573S	Missense	13/31	-
10-101591866-G-A	ABCC2	c.3236G>A	p.R1079Q	Missense	23/32	-
10-101594176-C-T	ABCC2	c.3298C>T	p.R1100C	Missense	24/32	-
10-101595975-G-A	ABCC2	c.3542G>A	p.R1181Q	Missense	25/32	-
10-101603610-A-G	ABCC2	c.3796A>G	p.I1266V	Missense	27/32	-
10-101604107-C-T	ABCC2	c.3872C>T	p.P1291L	Missense	28/32	-
10-101610393-G-T	ABCC2	c.4348G>T	p.A1450S	Missense	31/32	-
10-101611327-G-C	ABCC2	c.4577G>C	p.G1526A	Missense	32/32	-
17-48734166-C-T	ABCC3	c.326C>T	p.P109L	Missense	3/31	-
17-48734516-G-A	ABCC3	c.458G>A	p.R153H	Missense	4/31	-
17-48738348-C-T	ABCC3	c.871C>T	p.R291W	Missense	8/31	-
17-48738367-C-G	ABCC3	c.890C>G	p.P297R	Missense	8/31	-
17-48738399-G-A	ABCC3	c.922G>A	p.G308S	Missense	8/31	-
17-48741417-A-G	ABCC3	c.1283A>G	p.N428S	Missense	10/31	-
17-48742536-CT-AG	ABCC3	c.1361_1362delCTinsAG	p.A454E	Missense	11/31	-
17-48741440-C-A	ABCC3	c.1306C>A	p.Q436K	Missense	10/31	-
17-48745231-T-A	ABCC3	c.1643T>A	p.L548Q	Missense	13/31	-
17-48746541-G-A	ABCC3	c.1978G>A	p.V660M	Missense	16/31	-
17-48746550-G-A	ABCC3	c.1987G>A	p.V663M	Missense	16/31	-
17-48750447-C-T	ABCC3	c.2357C>T	p.A786V	Missense	18/31	-
17-48750846-C-T	ABCC3	c.2426C>T	p.T809M	Missense	19/31	-
17-48752837-G-A	ABCC3	c.2714G>A	p.R905K	Missense	20/31	-
17-48755518-G-A	ABCC3	c.3643G>A	p.V1215I	Missense	25/31	-
17-48755543-C-T	ABCC3	c.3668C>T	p.P1223L	Missense	25/31	-
17-48760979-G-T	ABCC3	c.3816G>T	p.W1272C	Missense	27/31	-
17-48760979-G-C	ABCC3	c.3816G>C	p.W1272C	Missense	27/31	-
17-48761058-C-T	ABCC3	c.3895C>T	p.R1299W	Missense	27/31	-
17-48762190-C-A	ABCC3	c.4234C>A	p.P1412T	Missense	29/31	-
17-48762223-G-A	ABCC3	c.4267G>A	p.G1423R	Missense	29/31	-
13-95673837-C-T	ABCC4	c.3970G>A	p.A1324T	Missense	31/31	-
13-95705380-G-A	ABCC4	c.3425C>T	p.T1142M	Missense	27/31	-
13-95726548-C-T	ABCC4	c.2837G>A	p.R946H	Missense	23/31	-
13-95727749-G-A	ABCC4	c.2743C>T	p.R915W	Missense	22/31	-
13-95768231-T-C	ABCC4	c.2480A>G	p.K827R	Missense	20/31	-
13-95813508-A-G	ABCC4	c.2390T>C	p.L797S	Missense	19/31	-
13-95830299-C-T	ABCC4	c.1592G>A	p.R531Q	Missense	12/31	-
13-95899302-G-A	ABCC4	c.233C>T	p.P78L	Missense	3/31	-
13-95899927-C-T	ABCC4	c.155G>A	p.R52H	Missense	2/31	-
3-183660632-C-T	ABCC5	c.3577G>A	p.V1193M	Missense	25/30	-
3-183665155-A-T	ABCC5	c.3371T>A	p.I1124N	Missense	23/30	-
3-183665245-G-A	ABCC5	c.3281C>T	p.A1094V	Missense	23/30	-
3-183667646-C-T	ABCC5	c.3122G>A	p.R1041H	Missense	22/30	-
3-183669307-G-C	ABCC5	c.2866C>G	p.L956V	Missense	20/30	-
3-183706481-A-G	ABCC5	c.322T>C	p.S108P	Missense	4/30	-
16-16248588-C-T	ABCC6	c.4105G>A	p.E1369K	Missense	29/31	-
16-16248791-C-T	ABCC6	c.3980G>A	p.G1327E	Missense	28/31	-
16-16259596-G-A	ABCC6	c.3190C>T	p.R1064W	Missense	23/31	-
16-16263577-T-C	ABCC6	c.2921A>G	p.D974G	Missense	22/31	-
11-17426081-T-C	ABCC8	c.3535A>G	p.K1179E	Missense	28/39	-
11-17434967-C-T	ABCC8	c.2449G>A	p.G817R	Missense	20/39	-
11-17450177-G-A	ABCC8	c.1858C>T	p.R620C	Missense	13/39	-
11-17464763-C-T	ABCC8	c.1429G>A	p.V477M	Missense	9/39	-
11-17474719-C-T	ABCC8	c.1123G>A	p.A375T	Missense	7/39	-
11-17474779-C-T	ABCC8	c.1063G>A	p.A355T	Missense	7/39	-
11-17482130-G-A	ABCC8	c.916C>T	p.R306C	Missense	6/39	-
12-21970198-A-C	ABCC9	c.3815T>G	p.L1272R	Missense	33/40	-
X-152991428-G-A	ABCD1	c.707G>A	p.R236H	Missense	1/10	-
X-152990986-C-T	ABCD1	c.265C>T	p.R89W	Missense	1/10	-
X-152991541-C-T	ABCD1	c.820C>T	p.R274W	Missense	1/10	-
X-152991616-C-T	ABCD1	c.895C>T	p.H299Y	Missense	1/10	-
12-39973395-C-T	ABCD2	c.1819G>A	p.D607N	Missense	8/10	-
12-39979971-A-T	ABCD2	c.1775T>A	p.I592K	Missense	7/10	-
12-40013126-T-C	ABCD2	c.292A>G	p.K98E	Missense	1/10	-
12-40013159-G-C	ABCD2	c.259C>G	p.Q87E	Missense	1/10	-
1-94884042-C-T	ABCD3	c.8C>T	p.A3V	Missense	1/23	-
1-94884068-A-T	ABCD3	c.34A>T	p.N12Y	Missense	1/23	-
1-94924174-G-A	ABCD3	c.122G>A	p.G41E	Missense	2/23	-
1-94940763-G-A	ABCD3	c.470G>A	p.R157K	Missense	6/23	-
14-74753420-C-T	ABCD4	c.1736G>A	p.R579Q	Missense	18/19	-
3-183910911-G-A	ABCF3	c.1772G>A	p.R591H	Missense	19/21	-
14-74756738-G-A	ABCD4	c.1411C>T	p.R471W	Missense	13/19	-
14-74759896-T-A	ABCD4	c.775A>T	p.T259S	Missense	8/19	-
14-74759919-C-T	ABCD4	c.752G>A	p.R251H	Missense	8/19	-
14-74759920-G-A	ABCD4	c.751C>T	p.R251C	Missense	8/19	-
14-74766869-C-G	ABCD4	c.141G>C	p.L47F	Missense	2/19	-
6-30551406-G-A	ABCF1	c.937G>A	p.A313T	Missense	11/25	-
7-150912020-T-C	ABCF2	c.1679A>G	p.N560S	Missense	14/15	-
3-183904039-T-A	ABCF3	c.44T>A	p.I15N	Missense	1/21	-
3-183905973-G-A	ABCF3	c.614G>A	p.R205H	Missense	7/21	-
3-183910615-A-T	ABCF3	c.1681A>T	p.S561C	Missense	18/21	-
3-183910892-CGG-TGT	ABCF3	c.1753_1755delCGGinsTGT	p.R585C	Missense	19/21	-
3-183910910-C-T	ABCF3	c.1771C>T	p.R591C	Missense	19/21	-
3-183910893-GG-AT	ABCF3	c.1754_1755delGGinsAT	p.R585H	Missense	19/21	-
3-183911416-G-A	ABCF3	c.2060G>A	p.R687H	Missense	21/21	-
3-183911443-G-A	ABCF3	c.2087G>A	p.R696H	Missense	21/21	-
21-43691209-G-A	ABCG1	c.316G>A	p.G106R	Missense	3/15	-
21-43691200-G-A	ABCG1	c.307G>A	p.G103R	Missense	3/15	-
21-43691200-G-C	ABCG1	c.307G>C	p.G103R	Missense	3/15	-
4-89039374-T-C	ABCG2	c.728A>G	p.H243R	Missense	7/16	-
11-119025526-C-T	ABCG4	c.587C>T	p.T196M	Missense	6/15	-
11-119029283-G-A	ABCG4	c.1184G>A	p.R395Q	Missense	11/15	-
2-44040259-C-G	ABCG5	c.1952G>C	p.R651T	Missense	13/13	-
2-44040259-C-T	ABCG5	c.1952G>A	p.R651K	Missense	13/13	-
18-19263904-C-T	ABHD3	c.532G>A	p.G178R	Missense	4/9	-
2-44053537-C-T	ABCG5	c.758G>A	p.R253H	Missense	6/13	-
2-44065003-C-T	ABCG5	c.235G>A	p.G79R	Missense	2/13	-
2-44071736-C-G	ABCG8	c.154C>G	p.L52V	Missense	2/13	-
2-44078891-G-A	ABCG8	c.491G>A	p.R164Q	Missense	4/13	-
2-44079565-G-T	ABCG8	c.634G>T	p.G212W	Missense	5/13	-
2-44079774-A-T	ABCG8	c.731A>T	p.D244V	Missense	6/13	-
2-44100939-A-G	ABCG8	c.1225A>G	p.N409D	Missense	9/13	-
2-44102404-G-T	ABCG8	c.1608G>T	p.W536C	Missense	11/13	-
2-44102404-G-C	ABCG8	c.1608G>C	p.W536C	Missense	11/13	-
2-44105044-G-A	ABCG8	c.2014G>A	p.D672N	Missense	13/13	-
2-27351941-G-A	ABHD1	c.404G>A	p.S135N	Missense	3/9	-
2-27353266-C-T	ABHD1	c.988C>T	p.P330S	Missense	8/9	-
18-19263904-C-G	ABHD3	c.532G>C	p.G178R	Missense	4/9	-
2-27353509-A-G	ABHD1	c.1115A>G	p.Y372C	Missense	9/9	-
7-73151687-A-G	ABHD11	c.497T>C	p.I157T	Missense	4/6	-
7-73151001-A-G	ABHD11	c.836T>C	p.I270T	Missense	6/6	-
20-25289111-G-A	ABHD12	c.769C>T	p.R257W	Missense	8/13	-
14-51352357-T-A	ABHD12B	c.512T>A	p.V171D	Missense	6/13	-
14-51344756-T-A	ABHD12B	c.191T>A	p.V64D	Missense	2/13	-
13-108882140-C-T	ABHD13	c.574C>T	p.R192C	Missense	2/2	-
3-52021617-G-A	ACY1	c.898G>A	p.G300R	Missense	12/15	-
3-52022597-T-G	ACY1	c.979T>G	p.F327V	Missense	13/15	-
3-52023020-C-T	ACY1	c.1156C>T	p.R386C	Missense	15/15	-
17-27889938-C-T	ABHD15	c.1048G>A	p.V350M	Missense	2/2	-
17-27893251-G-A	ABHD15	c.734C>T	p.S245F	Missense	1/2	-
17-27893405-G-A	ABHD15	c.580C>T	p.R194C	Missense	1/2	-
3-43743914-G-T	ABHD5	c.341G>T	p.R114L	Missense	3/7	-
3-43753233-G-A	ABHD5	c.539G>A	p.G180D	Missense	4/7	-
3-43753245-G-A	ABHD5	c.551G>A	p.R184Q	Missense	4/7	-
3-43732530-AG-CA	ABHD5	c.46_47delAGinsCA	p.R16Q	Missense	1/7	-
17-47288106-T-C	ABI3	c.20T>C	p.L7P	Missense	1/8	-
17-47293905-C-T	ABI3	c.130C>T	p.R44W	Missense	2/8	-
17-47293920-G-A	ABI3	c.145G>A	p.E49K	Missense	2/8	-
9-133738171-C-T	ABL1	c.571C>T	p.R191C	Missense	4/11	-
1-179095607-G-C	ABL2	c.592C>G	p.R198G	Missense	4/12	-
10-116211410-G-C	ABLIM1	c.1567C>G	p.R523G	Missense	14/23	-
10-116225511-G-C	ABLIM1	c.1387C>G	p.R463G	Missense	12/23	-
10-116227969-T-C	ABLIM1	c.1282A>G	p.R428G	Missense	11/23	-
4-8062751-C-T	ABLIM2	c.706G>A	p.A236T	Missense	7/21	-
4-8098877-G-A	ABLIM2	c.287C>T	p.S96L	Missense	3/21	-
4-8098896-T-A	ABLIM2	c.268A>T	p.I90F	Missense	3/21	-
4-8098926-C-T	ABLIM2	c.238G>A	p.G80S	Missense	3/21	-
4-8098983-C-T	ABLIM2	c.181G>A	p.G61S	Missense	3/21	-
5-148563144-C-T	ABLIM3	c.143C>T	p.T48I	Missense	3/24	-
5-148590308-G-C	ABLIM3	c.595G>C	p.E199Q	Missense	7/24	-
5-148610251-G-A	ABLIM3	c.797G>A	p.R266Q	Missense	9/24	-
5-148612795-AG-CA	ABLIM3	c.820_821delAGinsCA	p.R274Q	Missense	10/24	-
8-107773280-A-C	ABRA	c.1131T>G	p.I377M	Missense	2/2	-
8-107773309-A-G	ABRA	c.1102T>C	p.W368R	Missense	2/2	-
4-84391410-G-A	ABRAXAS1	c.422C>T	p.T141I	Missense	5/9	-
3-127398954-C-T	ABTB1	c.1156C>T	p.R386C	Missense	11/12	-
11-34378710-G-A	ABTB2	c.421C>T	p.R141C	Missense	1/17	-
11-34378736-A-G	ABTB2	c.395T>C	p.L132P	Missense	1/17	-
3-38164585-C-T	ACAA1	c.1228G>A	p.G410R	Missense	12/12	-
3-38167089-G-A	ACAA1	c.1166C>T	p.T389M	Missense	11/12	-
3-38173446-G-A	ACAA1	c.374C>T	p.S125L	Missense	4/12	-
3-38173456-G-C	ACAA1	c.364C>G	p.Q122E	Missense	4/12	-
3-38175477-C-T	ACAA1	c.289G>A	p.G97R	Missense	3/12	-
3-38178415-C-G	ACAA1	c.112G>C	p.V38L	Missense	1/12	-
3-38178415-C-A	ACAA1	c.112G>T	p.V38L	Missense	1/12	-
18-47311616-G-T	ACAA2	c.1060C>A	p.L354M	Missense	9/10	-
18-47318683-A-T	ACAA2	c.592T>A	p.Y198N	Missense	6/10	-
18-47329071-C-G	ACAA2	c.169G>C	p.G57R	Missense	2/10	-
18-47329199-C-T	ACAA2	c.41G>A	p.R14Q	Missense	2/10	-
17-35583267-G-C	ACACA	c.3353C>G	p.A1118G	Missense	26/56	-
17-35583274-G-A	ACACA	c.3346C>T	p.L1116F	Missense	26/56	-
12-109604776-G-T	ACACB	c.764G>T	p.G255V	Missense	3/53	-
12-109604784-C-T	ACACB	c.772C>T	p.R258W	Missense	3/53	-
12-109605822-A-G	ACACB	c.908A>G	p.D303G	Missense	4/53	-
12-109610081-C-T	ACACB	c.1037C>T	p.A346V	Missense	6/53	-
12-109577641-C-T	ACACB	c.431C>T	p.A144V	Missense	2/53	-
12-109617756-T-G	ACACB	c.1682T>G	p.V561G	Missense	11/53	-
12-109617783-A-G	ACACB	c.1709A>G	p.Y570C	Missense	11/53	-
12-109623408-C-T	ACACB	c.1843C>T	p.R615W	Missense	12/53	-
12-109623436-G-A	ACACB	c.1871G>A	p.G624E	Missense	12/53	-
12-109625916-C-T	ACACB	c.2093C>T	p.S698F	Missense	13/53	-
12-109631455-G-T	ACACB	c.2402G>T	p.G801V	Missense	16/53	-
12-109639483-G-A	ACACB	c.2890G>A	p.D964N	Missense	19/53	-
12-109650663-A-G	ACACB	c.3272A>G	p.H1091R	Missense	22/53	-
12-109673146-G-A	ACACB	c.4376G>A	p.R1459Q	Missense	32/53	-
12-109577781-G-A	ACACB	c.571G>A	p.G191S	Missense	2/53	-
12-109675096-G-A	ACACB	c.4573G>A	p.G1525S	Missense	34/53	-
12-109677678-T-C	ACACB	c.4706T>C	p.L1569P	Missense	35/53	-
12-109677729-G-A	ACACB	c.4757G>A	p.R1586H	Missense	35/53	-
12-109680336-G-A	ACACB	c.5117G>A	p.R1706Q	Missense	37/53	-
12-109683531-A-G	ACACB	c.5279A>G	p.N1760S	Missense	38/53	-
12-109684030-C-T	ACACB	c.5348C>T	p.P1783L	Missense	39/53	-
12-109684039-G-A	ACACB	c.5357G>A	p.R1786Q	Missense	39/53	-
12-109684135-G-A	ACACB	c.5453G>A	p.R1818Q	Missense	39/53	-
12-109684180-C-A	ACACB	c.5498C>A	p.A1833D	Missense	39/53	-
12-109684221-G-A	ACACB	c.5539G>A	p.V1847M	Missense	39/53	-
12-109690956-T-C	ACACB	c.6038T>C	p.M2013T	Missense	43/53	-
12-109692110-G-A	ACACB	c.6137G>A	p.R2046Q	Missense	44/53	-
12-109696113-C-T	ACACB	c.6304C>T	p.R2102W	Missense	46/53	-
12-109698323-G-A	ACACB	c.6535G>A	p.V2179M	Missense	48/53	-
12-109698363-A-G	ACACB	c.6575A>G	p.Y2192C	Missense	48/53	-
12-109698419-A-G	ACACB	c.6631A>G	p.I2211V	Missense	48/53	-
12-109702093-C-T	ACACB	c.6844C>T	p.R2282C	Missense	50/53	-
12-109702141-G-A	ACACB	c.6892G>A	p.A2298T	Missense	50/53	-
12-112150347-G-A	ACAD10	c.736G>A	p.G246S	Missense	6/21	-
12-112167753-G-A	ACAD10	c.1387G>A	p.D463N	Missense	10/21	-
12-112182776-G-C	ACAD10	c.2044G>C	p.E682Q	Missense	13/21	-
12-112184027-T-C	ACAD10	c.2195T>C	p.L732P	Missense	14/21	-
12-112143579-T-C	ACAD10	c.374T>C	p.L125P	Missense	4/21	-
12-112184086-G-A	ACAD10	c.2254G>A	p.E752K	Missense	14/21	-
12-112184865-T-C	ACAD10	c.2269T>C	p.S757P	Missense	15/21	-
12-112185166-A-T	ACAD10	c.2462A>T	p.N821I	Missense	16/21	-
12-112187138-A-G	ACAD10	c.2806A>G	p.M936V	Missense	18/21	-
12-112187140-G-A	ACAD10	c.2808G>A	p.M936I	Missense	18/21	-
12-112187148-G-T	ACAD10	c.2816G>T	p.R939L	Missense	18/21	-
12-112191669-C-T	ACAD10	c.2911C>T	p.R971W	Missense	19/21	-
12-112191718-A-C	ACAD10	c.2960A>C	p.K987T	Missense	19/21	-
12-112194215-G-A	ACAD10	c.3118G>A	p.D1040N	Missense	21/21	-
3-132277856-C-G	ACAD11	c.2302G>C	p.E768Q	Missense	20/20	-
3-132277907-G-A	ACAD11	c.2251C>T	p.R751C	Missense	20/20	-
3-132278717-C-T	ACAD11	c.2188G>A	p.G730R	Missense	19/20	-
3-132279976-T-A	ACAD11	c.2087A>T	p.D696V	Missense	18/20	-
3-132294680-G-T	ACAD11	c.1937C>A	p.A646D	Missense	17/20	-
3-132322120-C-T	ACAD11	c.1574G>A	p.R525Q	Missense	13/20	-
3-132337609-G-C	ACAD11	c.1283C>G	p.A428G	Missense	11/20	-
11-134131065-T-C	ACAD8	c.833T>C	p.I278T	Missense	7/11	-
3-128614248-A-G	ACAD9	c.442A>G	p.I148V	Missense	4/18	-
3-128616489-C-T	ACAD9	c.569C>T	p.A190V	Missense	6/18	-
3-128621432-A-G	ACAD9	c.919A>G	p.M307V	Missense	9/18	-
3-128623331-G-A	ACAD9	c.1132G>A	p.E378K	Missense	11/18	-
3-128625072-C-T	ACAD9	c.1258C>T	p.R420C	Missense	12/18	-
3-128627902-G-A	ACAD9	c.1445G>A	p.G482E	Missense	14/18	-
3-128629605-T-A	ACAD9	c.1714T>A	p.C572S	Missense	17/18	-
3-128629606-G-C	ACAD9	c.1715G>C	p.C572S	Missense	17/18	-
2-211068107-C-A	ACADL	c.932G>T	p.R311M	Missense	8/11	-
2-211070402-C-G	ACADL	c.722G>C	p.G241A	Missense	6/11	-
1-76205722-G-T	ACADM	c.526G>T	p.A176S	Missense	7/12	-
12-121174919-T-C	ACADS	c.341T>C	p.V114A	Missense	3/10	-
12-121174928-G-A	ACADS	c.350G>A	p.S117N	Missense	3/10	-
12-121176678-G-A	ACADS	c.989G>A	p.R330H	Missense	8/10	-
12-121176980-C-T	ACADS	c.1067C>T	p.A356V	Missense	9/10	-
12-121176968-C-T	ACADS	c.1055C>T	p.A352V	Missense	9/10	-
10-124800869-G-A	ACADSB	c.655G>A	p.V219M	Missense	5/11	-
10-124812607-G-A	ACADSB	c.1159G>A	p.E387K	Missense	10/11	-
10-124812628-T-C	ACADSB	c.1180T>C	p.Y394H	Missense	10/11	-
17-7124144-T-C	ACADVL	c.337T>C	p.F113L	Missense	5/20	-
17-7124146-C-A	ACADVL	c.339C>A	p.F113L	Missense	5/20	-
17-7124146-C-G	ACADVL	c.339C>G	p.F113L	Missense	5/20	-
17-7125561-G-C	ACADVL	c.818G>C	p.G273A	Missense	9/20	-
17-7125598-G-C	ACADVL	c.855G>C	p.E285D	Missense	9/20	-
17-7125275-G-C	ACADVL	c.627G>C	p.E209D	Missense	8/20	-
17-7125275-G-T	ACADVL	c.627G>T	p.E209D	Missense	8/20	-
17-7127674-G-A	ACADVL	c.1567G>A	p.G523R	Missense	16/20	-
17-7127293-G-A	ACADVL	c.1339G>A	p.G447R	Missense	14/20	-
17-7127293-G-C	ACADVL	c.1339G>C	p.G447R	Missense	14/20	-
17-7128130-C-T	ACADVL	c.1754C>T	p.A585V	Missense	19/20	-
17-7128342-C-T	ACADVL	c.1894C>T	p.R632C	Missense	20/20	-
17-7251269-C-T	ACAP1	c.1372C>T	p.R458W	Missense	15/22	-
3-195013109-G-A	ACAP2	c.1838C>T	p.A613V	Missense	19/23	-
1-1229048-C-G	ACAP3	c.2401G>C	p.E801Q	Missense	24/24	-
1-1231469-G-C	ACAP3	c.1428C>G	p.N476K	Missense	17/24	-
1-1231469-G-T	ACAP3	c.1428C>A	p.N476K	Missense	17/24	-
11-108012366-A-T	ACAT1	c.765A>T	p.E255D	Missense	8/12	-
11-108012367-T-A	ACAT1	c.766T>A	p.Y256N	Missense	8/12	-
11-108018050-A-G	ACAT1	c.1217A>G	p.E406G	Missense	12/12	-
6-160199709-G-T	ACAT2	c.1042G>T	p.A348S	Missense	9/9	-
10-27499809-C-T	ACBD5	c.1138G>A	p.G380R	Missense	9/13	-
10-27499782-C-T	ACBD5	c.1165G>A	p.G389R	Missense	9/13	-
10-27499782-C-G	ACBD5	c.1165G>C	p.G389R	Missense	9/13	-
11-44095050-C-G	ACCS	c.402C>G	p.D134E	Missense	4/15	-
11-44099413-C-T	ACCS	c.673C>T	p.R225C	Missense	8/15	-
11-44099439-G-T	ACCS	c.699G>T	p.K233N	Missense	8/15	-
11-44073203-G-A	ACCSL	c.706G>A	p.V236M	Missense	5/14	-
11-44079906-G-T	ACCSL	c.1367G>T	p.R456L	Missense	12/14	-
17-61556453-T-C	ACE	c.503T>C	p.L168P	Missense	3/25	-
17-61557214-C-T	ACE	c.596C>T	p.P199L	Missense	4/25	-
17-61557724-C-T	ACE	c.682C>T	p.R228C	Missense	5/25	-
17-61557841-G-A	ACE	c.799G>A	p.G267R	Missense	5/25	-
17-61559850-C-T	ACE	c.1142C>T	p.T381M	Missense	8/25	-
17-61559951-G-A	ACE	c.1243G>A	p.G415S	Missense	8/25	-
17-61559967-T-C	ACE	c.1259T>C	p.I420T	Missense	8/25	-
17-61560846-C-G	ACE	c.1513C>G	p.P505A	Missense	10/25	-
17-61561806-T-A	ACE	c.1825T>A	p.W609R	Missense	12/25	-
17-61561806-T-C	ACE	c.1825T>C	p.W609R	Missense	12/25	-
17-61568577-C-T	ACE	c.2747C>T	p.T916M	Missense	19/25	-
17-61571755-C-A	ACE	c.3304C>A	p.P1102T	Missense	22/25	-
17-61574215-C-T	ACE	c.3560C>T	p.T1187M	Missense	24/25	-
19-6307218-C-T	ACER1	c.572G>A	p.R191H	Missense	5/6	-
19-6312212-A-G	ACER1	c.298T>C	p.Y100H	Missense	3/6	-
19-6312465-G-C	ACER1	c.139C>G	p.L47V	Missense	2/6	-
19-6333510-T-G	ACER1	c.53A>C	p.N18T	Missense	1/6	-
3-42906773-T-A	ACKR2	c.779T>A	p.F260Y	Missense	3/3	-
17-40028410-T-A	ACLY	c.2668A>T	p.I890F	Missense	24/29	-
2-111691149-G-A	ACOXL	c.989G>A	p.G330E	Missense	12/18	-
17-40030070-T-C	ACLY	c.2636A>G	p.Q879R	Missense	23/29	-
17-40039467-A-C	ACLY	c.2173T>G	p.Y725D	Missense	20/29	-
17-40042453-G-A	ACLY	c.1984C>T	p.R662C	Missense	18/29	-
17-40043952-C-T	ACLY	c.1775G>A	p.R592Q	Missense	17/29	-
17-40049368-G-A	ACLY	c.1519C>T	p.R507W	Missense	15/29	-
17-40048621-T-A	ACLY	c.1681A>T	p.R561W	Missense	16/29	-
17-40049386-C-T	ACLY	c.1501G>A	p.V501M	Missense	15/29	-
17-40062815-T-C	ACLY	c.832A>G	p.M278V	Missense	8/29	-
2-135621089-C-A	ACMSD	c.374C>A	p.A125E	Missense	5/10	-
2-135630090-G-A	ACMSD	c.728G>A	p.R243H	Missense	8/10	-
2-135655939-C-T	ACMSD	c.878C>T	p.P293L	Missense	9/10	-
9-32407268-C-G	ACO1	c.107C>G	p.P36R	Missense	3/21	-
9-32407324-G-A	ACO1	c.163G>A	p.V55M	Missense	3/21	-
9-32408546-C-T	ACO1	c.301C>T	p.R101C	Missense	4/21	-
9-32418473-A-G	ACO1	c.622A>G	p.T208A	Missense	6/21	-
9-32419065-A-G	ACO1	c.688A>G	p.M230V	Missense	7/21	-
9-32420986-C-T	ACO1	c.931C>T	p.P311S	Missense	8/21	-
9-32423319-C-T	ACO1	c.973C>T	p.R325C	Missense	9/21	-
9-32430509-C-A	ACO1	c.1663C>A	p.P555T	Missense	14/21	-
22-41919850-G-T	ACO2	c.1387G>T	p.G463W	Missense	12/18	-
22-41922272-G-A	ACO2	c.1768G>A	p.G590R	Missense	15/18	-
22-41922272-G-C	ACO2	c.1768G>C	p.G590R	Missense	15/18	-
1-55050464-A-G	ACOT11	c.170A>G	p.H57R	Missense	2/16	-
1-55064970-C-T	ACOT11	c.766C>T	p.R256W	Missense	8/16	-
5-80626733-G-A	ACOT12	c.1418C>T	p.S473L	Missense	14/15	-
5-80640000-C-T	ACOT12	c.959G>A	p.R320H	Missense	9/15	-
6-24698178-A-G	ACOT13	c.149A>G	p.N50S	Missense	2/3	-
6-24698187-G-T	ACOT13	c.158G>T	p.G53V	Missense	2/3	-
14-74058757-G-T	ACOT4	c.94G>T	p.V32F	Missense	1/3	-
14-74058773-C-T	ACOT4	c.110C>T	p.S37F	Missense	1/3	-
14-74058937-C-A	ACOT4	c.274C>A	p.R92S	Missense	1/3	-
14-74062305-T-G	ACOT4	c.1213T>G	p.F405V	Missense	3/3	-
14-74062306-T-C	ACOT4	c.1214T>C	p.F405S	Missense	3/3	-
20-44470511-C-T	ACOT8	c.926G>A	p.R309Q	Missense	6/6	-
20-44477308-G-A	ACOT8	c.269C>T	p.P90L	Missense	3/6	-
17-73944345-A-G	ACOX1	c.1922T>C	p.L641P	Missense	13/14	-
17-73945434-C-T	ACOX1	c.1592G>A	p.C531Y	Missense	12/14	-
17-73949589-G-A	ACOX1	c.887C>T	p.A296V	Missense	7/14	-
17-73951993-G-T	ACOX1	c.574C>A	p.Q192K	Missense	5/14	-
17-73953581-T-C	ACOX1	c.497A>G	p.N166S	Missense	4/14	-
17-73953620-G-A	ACOX1	c.458C>T	p.T153I	Missense	4/14	-
3-58516307-A-G	ACOX2	c.878T>C	p.M293T	Missense	8/15	-
3-58517016-G-A	ACOX2	c.781C>T	p.R261W	Missense	7/15	-
3-58517450-G-A	ACOX2	c.673C>T	p.R225W	Missense	6/15	-
3-58520228-G-A	ACOX2	c.182C>T	p.P61L	Missense	3/15	-
3-58520737-C-T	ACOX2	c.97G>A	p.V33M	Missense	2/15	-
4-8391413-T-C	ACOX3	c.1349A>G	p.Y450C	Missense	12/18	-
4-8407697-T-C	ACOX3	c.761A>G	p.N254S	Missense	7/18	-
4-8416033-C-T	ACOX3	c.529G>A	p.D177N	Missense	5/18	-
2-111551686-G-A	ACOXL	c.280G>A	p.E94K	Missense	5/18	-
2-111551725-G-A	ACOXL	c.319G>A	p.E107K	Missense	5/18	-
2-111556618-G-A	ACOXL	c.488G>A	p.R163Q	Missense	7/18	-
2-111556620-G-C	ACOXL	c.490G>C	p.D164H	Missense	7/18	-
2-111551710-AGA-TGG	ACOXL	c.304_306delAGAinsTGG	p.R102W	Missense	5/18	-
2-111666367-C-T	ACOXL	c.790C>T	p.R264W	Missense	11/18	-
2-111551710-AG-CA	ACOXL	c.304_305delAGinsCA	p.R102Q	Missense	5/18	-
2-111666368-G-A	ACOXL	c.791G>A	p.R264Q	Missense	11/18	-
2-111666380-G-T	ACOXL	c.803G>T	p.G268V	Missense	11/18	-
19-11687156-C-G	ACP5	c.637G>C	p.E213Q	Missense	4/5	-
1-147131131-C-T	ACP6	c.503G>A	p.R168Q	Missense	4/10	-
19-39591426-A-G	ACP7	c.740A>G	p.Y247C	Missense	7/13	-
19-39591617-C-T	ACP7	c.836C>T	p.P279L	Missense	8/13	-
19-39591653-G-A	ACP7	c.872G>A	p.C291Y	Missense	8/13	-
19-39591793-C-T	ACP7	c.919C>T	p.R307C	Missense	9/13	-
19-39591829-G-T	ACP7	c.955G>T	p.D319Y	Missense	9/13	-
3-132051064-G-A	ACP3	c.332G>A	p.R111Q	Missense	4/10	-
22-51178381-G-A	ACR	c.541G>A	p.G181S	Missense	3/5	-
12-6756035-G-A	ACRBP	c.187C>T	p.R63C	Missense	2/10	-
17-48551579-C-T	ACSF2	c.1748C>T	p.P583L	Missense	15/16	-
16-89167714-C-G	ACSF3	c.625C>G	p.P209A	Missense	3/11	-
20-33509200-T-C	ACSS2	c.1345T>C	p.W449R	Missense	11/18	-
16-89167723-G-C	ACSF3	c.634G>C	p.V212L	Missense	3/11	-
16-89212360-G-A	ACSF3	c.1516G>A	p.G506R	Missense	10/11	-
4-185698092-C-T	ACSL1	c.523G>A	p.V175I	Missense	6/21	-
10-114171715-A-G	ACSL5	c.926A>G	p.H309R	Missense	11/21	-
10-114172997-G-A	ACSL5	c.1015G>A	p.D339N	Missense	12/21	-
10-114177616-G-A	ACSL5	c.1231G>A	p.G411R	Missense	14/21	-
10-114185175-T-C	ACSL5	c.1673T>C	p.I558T	Missense	18/21	-
5-131302170-G-A	ACSL6	c.1652C>T	p.T551M	Missense	17/21	-
5-131308521-G-A	ACSL6	c.1234C>T	p.R412C	Missense	13/21	-
5-131325201-C-T	ACSL6	c.451G>A	p.V151M	Missense	5/21	-
5-131326590-G-T	ACSL6	c.341C>A	p.A114D	Missense	3/21	-
16-20787240-T-C	ACSM3	c.299T>C	p.L100P	Missense	3/14	-
16-20792122-C-T	ACSM3	c.725C>T	p.P242L	Missense	5/14	-
16-20793082-G-C	ACSM3	c.992G>C	p.R331P	Missense	7/14	-
16-20796428-C-T	ACSM3	c.1142C>T	p.T381M	Missense	8/14	-
16-20803581-T-G	ACSM3	c.1478T>G	p.V493G	Missense	12/14	-
16-20429553-C-T	ACSM5	c.377C>T	p.P126L	Missense	3/14	-
16-20432659-G-A	ACSM5	c.703G>A	p.G235R	Missense	5/14	-
20-25004229-C-T	ACSS1	c.680G>A	p.R227H	Missense	4/14	-
20-33470746-C-G	ACSS2	c.328C>G	p.R110G	Missense	2/18	-
20-33464491-C-G	ACSS2	c.43C>G	p.R15G	Missense	1/18	-
20-33500907-A-G	ACSS2	c.383A>G	p.N128S	Missense	3/18	-
20-33501946-G-C	ACSS2	c.691G>C	p.D231H	Missense	6/18	-
20-33509200-T-A	ACSS2	c.1345T>A	p.W449R	Missense	11/18	-
20-33508429-T-A	ACSS2	c.1060T>A	p.W354R	Missense	9/18	-
20-33508429-T-C	ACSS2	c.1060T>C	p.W354R	Missense	9/18	-
12-81624900-T-C	ACSS3	c.1579T>C	p.Y527H	Missense	12/16	-
1-229567481-G-A	ACTA1	c.977C>T	p.T326I	Missense	6/7	-
10-90697882-G-A	ACTA2	c.926C>T	p.P309L	Missense	8/9	-
10-90699287-G-T	ACTA2	c.785C>A	p.T262N	Missense	7/9	-
5-56777481-T-C	ACTBL2	c.1054A>G	p.T352A	Missense	1/1	-
5-56777916-G-A	ACTBL2	c.619C>T	p.R207W	Missense	1/1	-
5-56777945-C-T	ACTBL2	c.590G>A	p.R197Q	Missense	1/1	-
5-56778213-C-T	ACTBL2	c.322G>A	p.E108K	Missense	1/1	-
5-56778287-A-G	ACTBL2	c.248T>C	p.M83T	Missense	1/1	-
5-56778305-A-G	ACTBL2	c.230T>C	p.V77A	Missense	1/1	-
5-56778423-G-T	ACTBL2	c.112C>A	p.R38S	Missense	1/1	-
2-74141956-C-T	ACTG2	c.763C>T	p.R255C	Missense	7/9	-
2-74146561-T-G	ACTG2	c.990T>G	p.I330M	Missense	9/9	-
20-32255692-C-T	ACTL10	c.389C>T	p.P130L	Missense	1/1	-
3-179294052-C-T	ACTL6A	c.524C>T	p.T175I	Missense	6/14	-
3-179294509-T-A	ACTL6A	c.673T>A	p.S225T	Missense	7/14	-
9-111624712-C-T	ACTL7A	c.110C>T	p.P37L	Missense	1/1	-
9-111624813-G-A	ACTL7A	c.211G>A	p.A71T	Missense	1/1	-
9-111624861-G-A	ACTL7A	c.259G>A	p.G87S	Missense	1/1	-
9-111625033-A-T	ACTL7A	c.431A>T	p.D144V	Missense	1/1	-
9-111625149-T-C	ACTL7A	c.547T>C	p.Y183H	Missense	1/1	-
9-111625197-G-A	ACTL7A	c.595G>A	p.A199T	Missense	1/1	-
9-111625242-G-A	ACTL7A	c.640G>A	p.G214S	Missense	1/1	-
9-111625374-A-T	ACTL7A	c.772A>T	p.N258Y	Missense	1/1	-
9-111625629-C-G	ACTL7A	c.1027C>G	p.L343V	Missense	1/1	-
9-111625851-G-A	ACTL7A	c.1249G>A	p.V417I	Missense	1/1	-
9-111617367-C-T	ACTL7B	c.844G>A	p.E282K	Missense	1/1	-
9-111617824-G-C	ACTL7B	c.387C>G	p.I129M	Missense	1/1	-
1-18149592-C-T	ACTL8	c.89C>T	p.P30L	Missense	2/3	-
19-8807853-C-T	ACTL9	c.1199G>A	p.R400Q	Missense	1/1	-
19-8807905-C-T	ACTL9	c.1147G>A	p.G383R	Missense	1/1	-
19-8807905-C-G	ACTL9	c.1147G>C	p.G383R	Missense	1/1	-
19-8808028-C-T	ACTL9	c.1024G>A	p.G342S	Missense	1/1	-
14-69356945-A-C	ACTN1	c.1145T>G	p.L382W	Missense	11/22	-
14-69369232-C-T	ACTN1	c.724G>A	p.V242M	Missense	8/22	-
14-69376069-C-T	ACTN1	c.560G>A	p.R187Q	Missense	6/22	-
1-236891020-C-A	ACTN2	c.579C>A	p.H193Q	Missense	6/21	-
1-236891020-C-G	ACTN2	c.579C>G	p.H193Q	Missense	6/21	-
1-236917289-G-A	ACTN2	c.1882G>A	p.E628K	Missense	16/21	-
1-236920792-C-A	ACTN2	c.2161C>A	p.R721S	Missense	18/21	-
1-236924333-C-T	ACTN2	c.2386C>T	p.R796C	Missense	20/21	-
1-236924424-A-T	ACTN2	c.2477A>T	p.D826V	Missense	20/21	-
1-236925911-G-A	ACTN2	c.2677G>A	p.D893N	Missense	21/21	-
19-39220016-G-A	ACTN4	c.2680G>A	p.G894S	Missense	21/21	-
14-58667012-A-G	ACTR10	c.77A>G	p.K26R	Missense	1/13	-
14-58680370-C-G	ACTR10	c.472C>G	p.L158V	Missense	6/13	-
2-98274979-C-T	ACTR1B	c.568G>A	p.V190I	Missense	6/11	-
2-98275089-G-A	ACTR1B	c.458C>T	p.T153M	Missense	6/11	-
2-98275102-C-T	ACTR1B	c.445G>A	p.A149T	Missense	6/11	-
2-98275402-A-G	ACTR1B	c.380T>C	p.V127A	Missense	5/11	-
2-98275863-G-C	ACTR1B	c.267C>G	p.I89M	Missense	4/11	-
2-65473826-A-T	ACTR2	c.328A>T	p.T110S	Missense	3/9	-
2-114688945-A-G	ACTR3	c.404A>G	p.N135S	Missense	5/12	-
20-37377173-G-A	ACTR5	c.52G>A	p.V18M	Missense	1/9	-
20-37378721-G-A	ACTR5	c.444G>A	p.M148I	Missense	2/9	-
20-37380925-G-A	ACTR5	c.757G>A	p.A253T	Missense	3/9	-
20-37394941-C-G	ACTR5	c.1354C>G	p.P452A	Missense	7/9	-
20-37400374-C-T	ACTR5	c.1739C>T	p.P580L	Missense	9/9	-
20-37400388-C-T	ACTR5	c.1753C>T	p.R585C	Missense	9/9	-
12-100598719-G-T	ACTR6	c.70G>T	p.V24F	Missense	2/11	-
3-53902804-C-T	ACTR8	c.1817G>A	p.R606Q	Missense	13/13	-
3-53908380-G-A	ACTR8	c.923C>T	p.A308V	Missense	8/13	-
3-53911768-T-G	ACTR8	c.416A>C	p.Y139S	Missense	4/13	-
X-127185153-A-T	ACTRT1	c.1033T>A	p.S345T	Missense	1/1	-
X-127185247-C-A	ACTRT1	c.939G>T	p.R313S	Missense	1/1	-
X-127186085-A-G	ACTRT1	c.101T>C	p.V34A	Missense	1/1	-
1-2938416-T-C	ACTRT2	c.166T>C	p.Y56H	Missense	1/1	-
1-2938728-G-A	ACTRT2	c.478G>A	p.G160R	Missense	1/1	-
1-2938887-G-A	ACTRT2	c.637G>A	p.V213M	Missense	1/1	-
1-2938924-T-G	ACTRT2	c.674T>G	p.L225W	Missense	1/1	-
1-2938989-G-C	ACTRT2	c.739G>C	p.G247R	Missense	1/1	-
3-169485790-G-C	ACTRT3	c.549C>G	p.D183E	Missense	2/2	-
3-169485790-G-T	ACTRT3	c.549C>A	p.D183E	Missense	2/2	-
3-169485845-A-G	ACTRT3	c.494T>C	p.F165S	Missense	2/2	-
12-52380708-C-G	ACVR1B	c.1243C>G	p.R415G	Missense	7/9	-
2-158406803-C-G	ACVR1C	c.646G>C	p.G216R	Missense	4/9	-
2-158406865-A-G	ACVR1C	c.584T>C	p.I195T	Missense	4/9	-
3-38519870-C-G	ACVR2B	c.527C>G	p.P176R	Missense	5/11	-
12-52308356-C-A	ACVRL1	c.759C>A	p.H253Q	Missense	6/10	-
12-52308356-C-G	ACVRL1	c.759C>G	p.H253Q	Missense	6/10	-
12-52312771-A-T	ACVRL1	c.1249A>T	p.I417F	Missense	9/10	-
12-52314610-C-T	ACVRL1	c.1445C>T	p.A482V	Missense	10/10	-
11-67412537-A-G	ACY3	c.613T>C	p.F205L	Missense	6/8	-
11-67414352-G-C	ACY3	c.163C>G	p.P55A	Missense	3/8	-
11-67414358-C-T	ACY3	c.157G>A	p.A53T	Missense	3/8	-
20-43249036-T-C	ADA	c.982A>G	p.N328D	Missense	11/12	-
20-43252858-A-T	ADA	c.591T>A	p.H197Q	Missense	6/12	-
12-88512304-A-AT	CEP290	c.1666_1666dupA	p.I556Nfs*20	Frameshift	17/54	-
1-19228997-GC-G	ALDH4A1	c.21delG	p.L8Sfs*23	Frameshift	1/15	-
1-63063592-GAACTC-G	ANGPTL3	c.363_367delCTCAA	p.N121Kfs*3	Frameshift	1/7	-
1-94508983-CT-C	ABCA4	c.3098delA	p.K1033Sfs*51	Frameshift	21/50	-
1-100382283-G-GA	AGL	c.4478_4478dupA	p.R1494Efs*13	Frameshift	33/34	-
1-114442983-TCA-T	AP4B1	c.656_657delTG	p.L219*	Frameshift	5/10	-
1-114442773-GCT-G	AP4B1	c.865_866delAG	p.S289Pfs*2	Frameshift	5/10	-
1-150526225-CCAGAGCCCAGGCCTCTGGCA-C	ADAMTSL4	c.767_786del20	p.Q256Pfs*38	Frameshift	6/19	-
2-38302435-C-CGGTGGCATGA	CYP1B1	c.96_97insTCATGCCACC	p.V33Sfs*194	Frameshift	2/3	-
2-38298421-TTCTGCCTGCACTC-T	CYP1B1	c.1064_1076del13	p.R355Hfs*69	Frameshift	3/3	-
2-58390594-C-CTTAA	FANCL	c.749_750insTTAA	p.E250Dfs*2	Frameshift	9/14	-
2-179436954-G-GA	TTN	c.73904dupT	p.S24636Lfs*8	Frameshift	326/363	-
2-179436379-G-GA	TTN	c.74479_74480insT	p.T24827Ifs*10	Frameshift	326/363	-
2-179436580-G-GA	TTN	c.74278_74279insT	p.T24760Ifs*2	Frameshift	326/363	-
2-179412957-T-TA	TTN	c.93395dupT	p.L31132Ffs*5	Frameshift	339/363	-
2-179408695-G-GA	TTN	c.96175_96176insT	p.A32059Vfs*4	Frameshift	346/363	-
2-179400243-T-TA	TTN	c.101098_101099insT	p.D33700Vfs*13	Frameshift	358/363	-
2-182542971-T-TG	NEUROD1	c.616_616dupC	p.H206Pfs*38	Frameshift	2/2	-
2-233407223-CCT-C	CHRNG	c.597_598delCT	p.F200Hfs*97	Frameshift	6/12	-
3-71830677-AT-A	PROK2	c.163delA	p.I55*	Frameshift	2/4	-
3-120366735-T-TC	HGD	c.457_457dup	p.D153Gfs*26	Frameshift	7/14	-
3-121527824-GAA-G	IQCB1	c.424_425delTT	p.F142Pfs*5	Frameshift	6/15	-
3-148727064-TG-T	GYG1	c.487delG	p.D163Tfs*5	Frameshift	5/8	-
3-182775102-TGG-T	MCCC1	c.868_869delCC	p.P290Sfs*5	Frameshift	8/19	-
3-182788804-ACT-A	MCCC1	c.743_744delAG	p.K248Ifs*15	Frameshift	7/19	-
3-182763230-CTG-C	MCCC1	c.1052_1053delCA	p.T351Rfs*3	Frameshift	10/19	-
3-182759427-CCA-C	MCCC1	c.1193_1194delTG	p.V398Gfs*19	Frameshift	11/19	-
3-182763204-TAA-T	MCCC1	c.1079_1080delTT	p.L360Qfs*25	Frameshift	10/19	-
3-182775129-GTC-G	MCCC1	c.842_843delGA	p.R281Pfs*6	Frameshift	8/19	-
4-16008260-T-TA	PROM1	c.1354_1354dup	p.Y452Lfs*13	Frameshift	13/28	-
4-16008287-G-GA	PROM1	c.1327_1327dupT	p.S443Ffs*22	Frameshift	13/28	-
4-79238630-AG-A	FRAS1	c.1931delG	p.G644Vfs*53	Frameshift	17/74	-
4-146567164-ATGAC-A	MMAA	c.593_596delCTGA	p.T198Sfs*6	Frameshift	4/7	-
4-175443135-CAG-C	HPGD	c.175_176delCT	p.L59Vfs*8	Frameshift	2/7	-
5-54529089-T-TGGGCC	CCNO	c.258_262dup	p.Q88Rfs*8	Frameshift	1/3	-
5-54529089-T-TGGGCCGGGCC	CCNO	c.253_262dup	p.Q88Rfs*51	Frameshift	1/3	-
5-70900186-A-AT	MCCC2	c.517_517dup	p.S173Ffs*25	Frameshift	6/17	-
5-80109505-TC-T	MSH3	c.2760delC	p.Y921Mfs*36	Frameshift	20/24	-
6-31085224-G-GAGGC	CDSN	c.164_167dup	p.T57Pfs*6	Frameshift	2/2	-
6-42937451-AAGGCCTCC-A	PEX6	c.1314_1321delGGAGGCCT	p.E439Gfs*3	Frameshift	5/17	-
6-42941812-TTCCTGGAC-T	PEX6	c.1051_1058delGTCCAGGA	p.V351Rfs*31	Frameshift	3/17	-
7-33407440-TGCTC-T	BBS9	c.1757_1760delCTCG	p.A586Efs*26	Frameshift	17/23	-
6-64709007-TG-T	EYS	c.6794delC	p.P2265Qfs*46	Frameshift	34/43	-
6-70411362-TC-T	LMBRD1	c.1056delG	p.N353Ifs*18	Frameshift	11/16	-
6-80878706-CAG-C	BCKDHB	c.595_596delAG	p.P200*	Frameshift	5/10	-
6-80877434-GGA-G	BCKDHB	c.383_384delGA	p.G128Dfs*30	Frameshift	4/10	-
6-112390565-A-AAC	CCN6	c.861_862insAC	p.P270Tfs*44	Frameshift	5/5	-
6-112382280-A-AAC	CCN6	c.189_190insAC	p.Q46Tfs*21	Frameshift	2/5	-
6-112390619-T-TAC	WISP3	c.862_863dup	p.Q289Lfs*25	Frameshift	5/5	-
7-2583388-C-CT	BRAT1	c.638_638dup	p.V214Gfs*189	Frameshift	5/14	-
7-6026969-C-CT	PMS2	c.1426_1426dupA	p.S476Kfs*8	Frameshift	11/15	-
7-6026873-A-AT	PMS2	c.1522_1522dupA	p.I508Nfs*34	Frameshift	11/15	-
8-133650254-AAG-A	DNAAF11	c.354_355delCT	p.F119Sfs*10	Frameshift	4/12	-
7-33407455-TCTTG-T	BBS9	c.1774_1777delGCTT	p.A592Pfs*20	Frameshift	17/23	-
7-33423349-TCAAG-T	BBS9	c.1861_1864delCAAG	p.Q621Nfs*27	Frameshift	18/23	-
7-33423363-AAAAC-A	BBS9	c.1877_1880delAACA	p.K626Rfs*22	Frameshift	18/23	-
7-33388755-TTGTG-T	BBS9	c.1405_1408delTGTG	p.C469Ifs*8	Frameshift	13/23	-
7-33390908-TGCTG-T	BBS9	c.1510_1513delGCTG	p.A504Lfs*27	Frameshift	14/23	-
7-33390896-ATTGG-A	BBS9	c.1498_1501delTTGG	p.L500Kfs*31	Frameshift	14/23	-
7-33407424-TTCAC-T	BBS9	c.1741_1744delCACT	p.H581Sfs*2	Frameshift	17/23	-
7-33397516-TTGCC-T	BBS9	c.1604_1607delGCCT	p.C535Yfs*40	Frameshift	16/23	-
7-117188720-C-CAGAT	CFTR	c.1236_1237insGATA	p.K413Dfs*6	Frameshift	10/27	-
7-117188810-A-AAGAT	CFTR	c.1327_1330dup	p.I444Rfs*3	Frameshift	10/27	-
7-143036379-ATACCCTGCGGAGGC-A	CLCN1	c.1437_1450del14	p.P480Hfs*24	Frameshift	13/23	-
8-133645040-CTT-C	DNAAF11	c.598_599delAA	p.K200Efs*3	Frameshift	5/12	-
8-133669090-ATT-A	DNAAF11	c.240_241delAA	p.K80Nfs*8	Frameshift	3/12	-
10-17130245-AG-A	CUBN	c.1865delC	p.T622Ifs*7	Frameshift	15/67	-
10-100195072-TG-T	HPS1	c.355delC	p.H119Tfs*5	Frameshift	5/20	-
10-100481513-CAG-C	HPSE2	c.856_857delCT	p.L286Efs*19	Frameshift	5/12	-
10-100380434-AAT-A	HPSE2	c.1129_1130delAT	p.I377Lfs*3	Frameshift	8/12	-
10-100374687-CGA-C	HPSE2	c.1292_1293delTC	p.L431Rfs*6	Frameshift	9/12	-
10-127462856-T-TG	MMP21	c.240_240dup	p.K81Qfs*177	Frameshift	2/7	-
11-32456756-GC-G	WT1	c.136delG	p.A51Pfs*31	Frameshift	1/10	-
11-68707125-CAG-C	IGHMBP2	c.2911_2912delAG	p.R971Efs*4	Frameshift	15/15	-
11-108106541-TATCTC-T	ATM	c.478_482delTCTCA	p.S160Afs*23	Frameshift	5/63	-
11-118897358-TAC-T	SLC37A4	c.824_825delGT	p.V275Rfs*50	Frameshift	8/11	-
11-118895914-TCC-T	SLC37A4	c.1109_1110delGG	p.G370Tfs*31	Frameshift	10/11	-
11-119216279-G-GA	MFRP	c.491_492insT	p.N167Qfs*34	Frameshift	5/15	-
12-6153463-CG-C	VWF	c.2435delC	p.P812Rfs*31	Frameshift	18/52	-
12-56118186-CCT-C	RDH5	c.814_815delCT	p.L272Dfs*63	Frameshift	5/5	-
12-56115685-CTA-C	RDH5	c.523_524delTA	p.Y175Lfs*12	Frameshift	3/5	-
12-88523489-G-GT	CEP290	c.832_832dupA	p.N278Kfs*20	Frameshift	10/54	-
12-88512477-A-AT	CEP290	c.1564_1564dupA	p.N522Kfs*2	Frameshift	16/54	-
12-123738316-T-TATCC	C12orf65	c.96_99dup	p.P34Ifs*25	Frameshift	2/3	-
13-20796930-A-AT	GJB6	c.689_689dup	p.N230Kfs*11	Frameshift	5/5	-
13-108862543-CAGAAT-C	LIG4	c.1070_1074delATTCT	p.D357Gfs*10	Frameshift	3/3	-
14-45628313-G-GA	FANCM	c.1413_1413dupA	p.K473Efs*3	Frameshift	9/23	-
14-45628392-C-CA	FANCM	c.1491_1491dupA	p.Q498Tfs*7	Frameshift	9/23	-
15-32929344-CAT-C	ARHGAP11A	c.2370_2371delAT	p.C791*	Frameshift	12/12	-
15-32928777-AAG-A	ARHGAP11A	c.1803_1804delAG	p.K601Nfs*4	Frameshift	12/12	-
15-72638887-C-CGATA	HEXA	c.1310_1311insTATC	p.E438Ifs*7	Frameshift	11/14	-
15-73614928-CCAAA-C	HCN4	c.3502_3505delTTTG	p.F1168Gfs*12	Frameshift	8/8	-
17-33902991-AAG-A	PEX12	c.888_889delCT	p.L297Tfs*12	Frameshift	3/3	-
17-36493522-AG-A	GPR179	c.984delC	p.S329Lfs*4	Frameshift	3/11	-
17-41052969-TC-T	G6PC1	c.79delC	p.Q27Rfs*9	Frameshift	1/5	-
17-56358094-GAGAGAAGAGAAGAA-G	MPO	c.13_26del14	p.F5Qfs*38	Frameshift	1/12	-
17-59761413-CTTTG-C	BRIP1	c.2990_2993delCAAA	p.T997Rfs*61	Frameshift	20/20	-
19-15636205-C-CG	CYP4F22	c.59_59dupG	p.I21Hfs*59	Frameshift	3/14	-
19-41110944-CT-C	LTBP4	c.254delT	p.L85Rfs*4	Frameshift	2/31	-
19-50365327-A-AGTTGTCGATGGCGACCC	PNKP	c.1161_1162insGGGTCGCCATCGACAAC	p.S388Gfs*13	Frameshift	13/17	-
19-50365312-G-GGTTGTCGATGGCGACCC	PNKP	c.1176_1177insGGGTCGCCATCGACAAC	p.H393Gfs*8	Frameshift	13/17	-
19-57742656-TC-T	AURKC	c.40delC	p.Q14Nfs*58	Frameshift	1/7	-
19-57743136-GC-G	AURKC	c.85delC	p.Q29Sfs*43	Frameshift	2/7	-
20-21112767-AAACT-A	KIZ	c.119_122delAACT	p.K40Ifs*14	Frameshift	2/14	-
20-45355546-AG-A	SLC2A10	c.1334delG	p.G445Efs*40	Frameshift	3/5	-
8-133881997-GC-G	TG	c.202delC	p.R68Afs*38	Frameshift	3/48	-
21-47565839-G-GC	FTCD	c.990_990dup	p.P331Afs*2	Frameshift	9/14	-
22-23917217-AC-A	IGLL1	c.258delG	p.Q88Nfs*7	Frameshift	2/3	-
8-133883595-TC-T	TG	c.277delC	p.L93Cfs*13	Frameshift	4/48	-
22-38122413-CAG-C	TRIOBP	c.3854_3855delGA	p.R1285Tfs*95	Frameshift	7/24	-
22-51066047-A-AG	ARSA	c.160_160dupC	p.L54Pfs*22	Frameshift	1/8	-
22-51065640-T-TG	ARSA	c.418_418dupC	p.H140Pfs*36	Frameshift	2/8	-
13-101763478-GCG-TCA	NALCN	c.2290_2292delCGCinsTGA	p.R764*	Nonsense	19/44	-
13-103701773-G-A	SLC10A2	c.785C>T	p.T262M	Missense	5/6	-
13-113772982-C-T	F7	c.995C>T	p.A332V	Missense	8/8	-
13-115091085-C-A	CHAMP1	c.1768C>A	p.Q590K	Missense	3/3	-
14-24729232-G-A	TGM1	c.790C>T	p.R264W	Missense	5/15	-
14-31358879-T-C	COCH	c.1535T>C	p.M512T	Missense	12/12	-
14-32068516-G-T	NUBPL	c.313G>T	p.D105Y	Missense	4/11	-
14-39509974-T-C	SEC23A	c.2104A>G	p.M702V	Missense	18/20	-
14-54417117-C-T	BMP4	c.860G>A	p.R287H	Missense	4/4	-
14-55310826-A-G	GCH1	c.662T>C	p.M221T	Missense	6/6	-
14-64676751-C-T	SYNE2	c.18632C>T	p.T6211M	Missense	103/116	-
14-64676265-C-T	SYNE2	c.18509C>T	p.T6170M	Missense	102/116	-
14-66975273-A-T	GPHN	c.28A>T	p.N10Y	Missense	1/23	-
15-42693949-C-T	CAPN3	c.1465C>T	p.R489W	Missense	11/24	-
15-42702191-G-A	CAPN3	c.2113G>A	p.D705N	Missense	19/24	-
15-42702858-G-A	CAPN3	c.2257G>A	p.D753N	Missense	21/24	-
15-42703497-C-A	CAPN3	c.2393C>A	p.A798E	Missense	23/24	-
15-42702850-C-A	CAPN3	c.2249C>A	p.A750E	Missense	21/24	-
15-42678383-C-A	CAPN3	c.398C>A	p.A133E	Missense	3/24	-
15-48782203-C-T	FBN1	c.2927G>A	p.R976H	Missense	25/66	-
15-49059645-A-C	CEP152	c.2034T>G	p.Y678*	Nonsense	16/27	-
15-49060434-T-C	CEP152	c.2000A>G	p.K667R	Missense	15/27	-
16-1841827-C-CGCGCAGGCT	IGFALS	c.583_591dup	p.S195_R197dup	InFrameInsertion	2/2	-
16-23200921-G-A	SCNN1G	c.547G>A	p.G183S	Missense	3/13	-
16-23200963-G-A	SCNN1G	c.589G>A	p.E197K	Missense	3/13	-
16-27454397-A-G	IL21R	c.467A>G	p.Y156C	Missense	5/9	-
16-31501798-A-G	SLC5A2	c.1961A>G	p.N654S	Missense	14/14	-
16-56545141-G-C	BBS2	c.401C>G	p.P134R	Missense	3/17	-
16-56548501-C-T	BBS2	c.209G>A	p.S70N	Missense	2/17	-
17-6328870-GGGTGGCTCTGCA-G	AIPL1	c.1053_1064del12	p.A352_P355del	InFrameDeletion	6/6	-
17-6328935-GCTGCGTGGCACC-G	AIPL1	c.988_999del12	p.G330_Q333del	InFrameDeletion	6/6	-
17-6328943-GGCACCCTGGCTC-G	AIPL1	c.981_992del12	p.S328_A331del	InFrameDeletion	6/6	-
17-6328905-CGGGTGGCTCTGT-C	AIPL1	c.1018_1029del12	p.T340_P343del