PMID: 36973454

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Nature genetics

Körber, Verena V, Stainczyk, Sabine A SA, Kurilov, Roma R, Henrich, Kai-Oliver KO, Hero, Barbara B, Brors, Benedikt B, Westermann, Frank F, Höfer, Thomas T

2023-03-27

5572 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
21-45993925-T-C	KRTAP10-4	c.290T>C	p.L97P	Missense	1/1	-
13-32953911-C-G	BRCA2	c.8978C>G	p.S2993*	Nonsense	23/27	-
1-152325053-A-G	FLG2	c.5209T>C	p.Y1737H	Missense	3/3	-
20-43851271-A-C	SEMG2	c.998A>C	p.H333P	Missense	2/3	-
6-30917574-A-G	MUCL3	c.1333A>G	p.R445G	Missense	2/3	-
12-109017458-A-G	SELPLG	c.626T>C	p.M209T	Missense	2/2	-
17-39305760-C-T	KRTAP4-5	c.260G>A	p.R87K	Missense	1/1	-
17-39305773-T-G	KRTAP4-5	c.247A>C	p.T83P	Missense	1/1	-
17-39305774-C-G	KRTAP4-5	c.246G>C	p.Q82H	Missense	1/1	-
1-109806332-G-A	CELSR2	c.4934G>A	p.R1645H	Missense	9/34	-
17-10401110-C-A	MYH1	c.4306G>T	p.V1436F	Missense	31/40	-
3-18438669-A-C	SATB1	c.751+2T>G	-	IntronicSNV	-	6/10
6-159146670-G-T	SYTL3	c.855+1G>T	-	IntronicSNV	-	11/17
9-72897500-G-T	SMC5	c.981+1G>T	-	IntronicSNV	-	7/24
2-179664550-A-C	TTN	c.669+2T>G	-	IntronicSNV	-	5/362
17-78389052-T-G	ENDOV	c.56+2T>G	-	IntronicSNV	-	1/9
7-30672055-T-C	GARS1	c.2094+2T>C	-	IntronicSNV	-	16/16
1-236720499-G-A	HEATR1	c.5351C>T	p.S1784F	Missense	37/45	-
6-105298780-A-G	HACE1	c.221+2T>C	-	IntronicSNV	-	3/23
3-47448103-G-T	PTPN23	c.759+1G>T	-	IntronicSNV	-	8/24
3-47021403-G-A	NBEAL2	c.51+1G>A	-	IntronicSNV	-	1/53
11-1771587-A-C	IFITM10	c.84+2T>G	-	IntronicSNV	-	1/2
7-99700405-G-A	AP4M1	c.254+1G>A	-	IntronicSNV	-	3/14
9-18675906-G-A	ADAMTSL1	c.1136+1G>A	-	IntronicSNV	-	10/28
7-22999874-C-T	FAM126A	c.991+1G>A	-	IntronicSNV	-	10/10
14-77242618-T-G	VASH1	c.912+2T>G	-	IntronicSNV	-	5/6
2-32656160-T-C	BIRC6	c.3248+2T>C	-	IntronicSNV	-	12/73
6-170064261-C-G	WDR27	c.904+1G>C	-	IntronicSNV	-	8/25
7-95165863-G-C	ASB4	c.1092+1G>C	-	IntronicSNV	-	4/4
19-44946997-C-A	ZNF229	c.34+1G>T	-	IntronicSNV	-	3/5
22-21235423-G-T	SNAP29	c.520+1G>T	-	IntronicSNV	-	3/4
19-56663216-A-G	ZNF444	c.297+4639A>G	-	IntronicSNV	-	3/4
X-71932619-A-C	PHKA1	c.237+2T>G	-	IntronicSNV	-	2/31
6-149262572-T-G	UST	c.447+2T>G	-	IntronicSNV	-	3/7
12-15654998-G-T	PTPRO	c.1105+1G>T	-	IntronicSNV	-	5/26
17-67136747-A-T	ABCA6	c.96+2T>A	-	IntronicSNV	-	2/38
1-167874230-C-A	ADCY10	c.148+1G>T	-	IntronicSNV	-	2/32
18-9945023-G-A	VAPA	c.418-5369G>A	-	IntronicSNV	-	4/5
1-46870821-G-A	FAAH	c.444+1G>A	-	IntronicSNV	-	3/14
17-67124759-C-A	ABCA6	c.1119+1G>T	-	IntronicSNV	-	8/38
6-108214685-C-T	SEC63	c.1674+1G>A	-	IntronicSNV	-	16/20
16-2125894-G-T	TSC2	c.2639+1G>T	-	IntronicSNV	-	23/41
21-45649487-C-T	ICOSLG	c.898+450G>A	-	IntronicSNV	-	6/6
3-37323764-G-T	GOLGA4	c.477+1G>T	-	IntronicSNV	-	3/23
17-79913271-A-C	NOTUM	c.1136+2T>G	-	IntronicSNV	-	9/10
1-167921101-T-C	DCAF6	c.159+2T>C	-	IntronicSNV	-	2/21
11-57335056-A-G	UBE2L6	c.27+2T>C	-	IntronicSNV	-	1/3
6-129901214-C-T	ARHGAP18	c.1900+1G>A	-	IntronicSNV	-	14/14
4-114209643-G-A	ANK2	c.2277+1G>A	-	IntronicSNV	-	20/45
7-76916244-G-A	CCDC146	c.2277+1G>A	-	IntronicSNV	-	16/18
1-216424441-C-T	USH2A	c.1972-1G>A	-	IntronicSNV	-	11/71
10-116931051-G-T	ATRNL1	c.1348+1G>T	-	IntronicSNV	-	8/28
12-7043742-G-T	ATN1	c.279+1G>T	-	IntronicSNV	-	4/9
20-47770468-A-T	STAU1	c.344+2T>A	-	IntronicSNV	-	4/13
22-43687050-A-T	SCUBE1	c.484+2T>A	-	IntronicSNV	-	4/21
12-102030508-T-G	MYBPC1	c.665+2T>G	-	IntronicSNV	-	10/31
6-135359073-G-A	HBS1L	c.430+1638C>T	-	IntronicSNV	-	4/17
6-135359073-G-C	HBS1L	c.430+1638C>G	-	IntronicSNV	-	4/17
8-110416943-G-A	PKHD1L1	c.1533+1G>A	-	IntronicSNV	-	15/77
17-4802294-A-C	CHRNE	c.1326+2T>G	-	IntronicSNV	-	11/11
5-35667362-G-T	SPEF2	c.1355+1G>T	-	IntronicSNV	-	9/36
10-111652769-C-A	XPNPEP1	c.310+1G>T	-	IntronicSNV	-	4/20
9-33442848-A-G	AQP3	c.492+2T>C	-	IntronicSNV	-	4/5
17-767286-G-A	NXN	c.361-37968C>T	-	IntronicSNV	-	1/7
10-15761561-C-A	ITGA8	c.209+1G>T	-	IntronicSNV	-	1/29
1-245026917-A-C	HNRNPU	c.691+2T>G	-	IntronicSNV	-	1/13
5-98216981-A-T	CHD1	c.2964+2T>A	-	IntronicSNV	-	21/35
11-1251374-G-T	MUC5B	c.1359+1G>T	-	IntronicSNV	-	11/48
19-40711204-G-T	MAP3K10	c.1188+1G>T	-	IntronicSNV	-	4/9
11-64611880-A-C	CDC42BPG	c.160+2T>G	-	IntronicSNV	-	1/36
19-1090905-A-C	POLR2E	c.429+2T>G	-	IntronicSNV	-	4/7
17-10419755-C-G	MYH1	c.204+1G>C	-	IntronicSNV	-	3/39
7-37955693-A-C	SFRP4	c.445+2T>G	-	IntronicSNV	-	1/5
16-88788624-A-C	PIEZO1	c.4955+2T>G	-	IntronicSNV	-	36/50
3-184566984-G-C	VPS8	c.666+1G>C	-	IntronicSNV	-	9/47
18-47811694-C-G	CXXC1	c.666+1G>C	-	IntronicSNV	-	6/14
17-79973030-G-A	ASPSCR1	c.1354-1322G>A	-	IntronicSNV	-	12/15
6-36715997-C-G	CPNE5	c.1018+1G>C	-	IntronicSNV	-	15/20
14-88983435-C-A	PTPN21	c.350+1G>T	-	IntronicSNV	-	3/18
2-26179301-T-G	KIF3C	c.1558A>C	p.K520Q	Missense	2/8	-
11-18195165-G-A	MRGPRX4	c.362G>A	p.C121Y	Missense	1/1	-
2-61298789-G-C	SANBR	c.199G>C	p.D67H	Missense	4/22	-
2-54148132-T-A	PSME4	c.2156A>T	p.N719I	Missense	18/47	-
11-5906417-C-A	OR52E4	c.895C>A	p.Q299K	Missense	2/2	-
1-169586617-A-T	SELP	c.130T>A	p.Y44N	Missense	3/17	-
5-112420905-C-A	MCC	c.1501G>T	p.E501*	Nonsense	9/19	-
11-18194843-C-G	MRGPRX4	c.40C>G	p.P14A	Missense	1/1	-
8-57876368-T-C	BPNT2	c.1064A>G	p.K355R	Missense	5/5	-
11-26574855-C-A	ANO3	c.1349C>A	p.S450Y	Missense	13/27	-
5-71493470-G-A	MAP1B	c.4288G>A	p.E1430K	Missense	5/7	-
11-93463399-A-C	CEP295	c.7770A>C	p.K2590N	Missense	30/30	-
11-93463399-A-T	CEP295	c.7770A>T	p.K2590N	Missense	30/30	-
17-63200318-A-G	RGS9	c.1102A>G	p.I368V	Missense	15/19	-
12-50747421-G-T	FAM186A	c.3194C>A	p.S1065Y	Missense	4/8	-
11-65620156-C-T	SNX32	c.968C>T	p.A323V	Missense	11/13	-
20-60887948-T-G	LAMA5	c.9074A>C	p.K3025T	Missense	66/80	-
15-68468965-C-G	PIAS1	c.1454C>G	p.S485C	Missense	11/14	-
12-109017825-C-G	SELPLG	c.259G>C	p.A87P	Missense	2/2	-
13-77817271-A-T	MYCBP2	c.2552T>A	p.I851N	Missense	17/83	-
12-105593227-T-C	APPL2	c.787A>G	p.T263A	Missense	10/21	-
16-89623461-A-G	SPG7	c.2348A>G	p.Q783R	Missense	17/17	-
4-89574127-C-T	HERC3	c.571C>T	p.P191S	Missense	6/26	-
16-89611172-A-C	SPG7	c.1441A>C	p.T481P	Missense	10/17	-
15-54614253-A-T	UNC13C	c.4385A>T	p.Q1462L	Missense	14/33	-
6-56993597-A-T	ZNF451	c.383A>T	p.E128V	Missense	5/15	-
12-50749384-C-G	FAM186A	c.1231G>C	p.A411P	Missense	4/8	-
17-3937565-C-G	ZZEF1	c.6328G>C	p.D2110H	Missense	40/55	-
20-5990479-C-A	CRLS1	c.365C>A	p.P122Q	Missense	2/7	-
17-10443945-C-A	MYH2	c.974G>T	p.S325I	Missense	11/40	-
22-21343964-G-T	LZTR1	c.644G>T	p.W215L	Missense	7/21	-
12-105605094-A-G	APPL2	c.287T>C	p.L96P	Missense	5/21	-
22-30403258-A-C	MTMR3	c.827A>C	p.N276T	Missense	10/20	-
1-42049433-A-G	HIVEP3	c.1036T>C	p.S346P	Missense	4/9	-
11-65617625-C-T	SNX32	c.257C>T	p.P86L	Missense	4/13	-
1-117633208-G-T	TTF2	c.2551G>T	p.E851*	Nonsense	15/23	-
19-40872538-C-A	PLD3	c.49C>A	p.P17T	Missense	4/13	-
1-152083111-T-C	TCHH	c.2582A>G	p.E861G	Missense	3/3	-
17-10451044-T-C	MYH2	c.194A>G	p.E65G	Missense	3/40	-
19-40542369-C-T	ZNF780B	c.397G>A	p.G133R	Missense	5/5	-
19-40542369-C-G	ZNF780B	c.397G>C	p.G133R	Missense	5/5	-
1-17949586-C-A	ARHGEF10L	c.1116C>A	p.C372*	Nonsense	12/29	-
1-158299357-T-A	CD1B	c.689A>T	p.Y230F	Missense	4/6	-
5-71490441-T-A	MAP1B	c.1259T>A	p.L420H	Missense	5/7	-
1-160146330-G-A	ATP1A4	c.2528G>A	p.R843K	Missense	17/22	-
1-186089014-G-C	HMCN1	c.12094G>C	p.G4032R	Missense	79/107	-
11-32456790-CCG-ACA	WT1	c.100_102delCGGinsTGT	p.R39C	Missense	1/10	-
15-93198878-C-G	FAM174B	c.12G>C	p.V4=	Synonymous	1/3	-
15-93198878-C-A	FAM174B	c.12G>T	p.V4=	Synonymous	1/3	-
19-33651374-C-A	WDR88	c.1052C>A	p.A351E	Missense	8/11	-
12-64784334-G-A	C12orf56	c.12C>T	p.P4=	Synonymous	1/13	-
12-64784334-G-C	C12orf56	c.12C>G	p.P4=	Synonymous	1/13	-
12-64784334-G-T	C12orf56	c.12C>A	p.P4=	Synonymous	1/13	-
2-101879126-G-C	CNOT11	c.805G>C	p.V269L	Missense	3/7	-
20-44803449-GA-AT	CDH22	c.2182_2183delTCinsAT	p.S728I	Missense	12/12	-
1-235969105-C-T	LYST	c.3331G>A	p.A1111T	Missense	6/53	-
4-13603065-G-T	BOD1L1	c.5459C>A	p.S1820Y	Missense	10/26	-
8-124267666-G-A	ZHX1	c.521C>T	p.S174L	Missense	3/4	-
1-91447881-A-C	ZNF644	c.30T>G	p.N10K	Missense	2/6	-
1-91447881-A-T	ZNF644	c.30T>A	p.N10K	Missense	2/6	-
12-53703430-A-C	AAAS	c.765T>G	p.S255R	Missense	8/16	-
12-53703430-A-T	AAAS	c.765T>A	p.S255R	Missense	8/16	-
12-53703432-T-G	AAAS	c.763A>C	p.S255R	Missense	8/16	-
16-22130304-C-A	VWA3A	c.1072C>A	p.Q358K	Missense	12/34	-
19-33666440-G-T	WDR88	c.1381G>T	p.E461*	Nonsense	11/11	-
1-32264201-G-A	SPOCD1	c.1870C>T	p.L624F	Missense	8/16	-
1-8073881-G-T	ERRFI1	c.778C>A	p.P260T	Missense	4/4	-
1-152329787-A-G	FLG2	c.475T>C	p.S159P	Missense	3/3	-
7-148712111-C-T	PDIA4	c.499G>A	p.V167I	Missense	4/10	-
19-51628632-GG-AT	SIGLEC9	c.401_402delGGinsAT	p.R134H	Missense	1/7	-
15-65917792-C-G	SLC24A1	c.1374C>G	p.H458Q	Missense	2/10	-
6-89910895-A-T	GABRR1	c.263T>A	p.M88K	Missense	3/10	-
18-14542963-C-G	POTEC	c.183G>C	p.M61I	Missense	1/11	-
1-158641200-G-C	SPTA1	c.1532C>G	p.A511G	Missense	12/52	-
18-14542963-C-A	POTEC	c.183G>T	p.M61I	Missense	1/11	-
20-20661429-A-C	RALGAPA2	c.123T>G	p.N41K	Missense	2/40	-
20-20661429-A-T	RALGAPA2	c.123T>A	p.N41K	Missense	2/40	-
15-65916545-AG-CA	SLC24A1	c.127_128delAGinsCA	p.R43Q	Missense	2/10	-
19-52579374-T-C	ZNF841	c.194A>G	p.E65G	Missense	6/7	-
4-52945019-T-C	SPATA18	c.1139T>C	p.I380T	Missense	8/13	-
18-21425002-C-G	LAMA3	c.3633C>G	p.N1211K	Missense	30/75	-
18-21425002-C-A	LAMA3	c.3633C>A	p.N1211K	Missense	30/75	-
16-1275215-G-T	TPSG1	c.38C>A	p.A13D	Missense	1/6	-
17-48598476-C-T	MYCBPAP	c.1051C>T	p.P308S	Missense	8/19	-
19-9060448-G-T	MUC16	c.26998C>A	p.L9000M	Missense	3/84	-
8-48869817-C-A	PRKDC	c.238G>T	p.E80*	Nonsense	3/87	-
13-32912784-C-A	BRCA2	c.4292C>A	p.A1431E	Missense	11/27	-
1-204093955-G-A	SOX13	c.1562G>A	p.R521H	Missense	13/14	-
19-58773443-C-G	ZNF544	c.1471C>G	p.P491A	Missense	7/7	-
3-45130565-T-C	CDCP1	c.2062A>G	p.I688V	Missense	8/9	-
18-74980838-A-C	GALR1	c.1030A>C	p.T344P	Missense	3/3	-
13-33344290-A-G	PDS5B	c.3656A>G	p.K1219R	Missense	32/35	-
16-69970231-G-T	WWP2	c.1993G>T	p.E665*	Nonsense	19/24	-
17-10216629-C-A	MYH13	c.4027G>T	p.D1343Y	Missense	30/41	-
7-148709050-C-G	PDIA4	c.867G>C	p.E289D	Missense	6/10	-
7-148709050-C-A	PDIA4	c.867G>T	p.E289D	Missense	6/10	-
17-48603251-G-T	MYCBPAP	c.1921G>T	p.E598*	Nonsense	14/19	-
17-10558269-C-A	MYH3	c.113G>T	p.C38F	Missense	3/41	-
15-42050032-CGA-TGG	MGA	c.7186_7188delCGAinsTGG	p.R2396W	Missense	19/24	-
17-10542401-G-T	MYH3	c.3208C>A	p.L1070M	Missense	25/41	-
21-45993906-C-G	KRTAP10-4	c.271C>G	p.Q91E	Missense	1/1	-
X-64949351-G-T	MSN	c.244G>T	p.A82S	Missense	4/13	-
17-39240761-G-T	KRTAP4-7	c.303G>T	p.Q101H	Missense	1/1	-
17-39240761-G-C	KRTAP4-7	c.303G>C	p.Q101H	Missense	1/1	-
12-107391358-G-T	CRY1	c.1400C>A	p.P467H	Missense	9/13	-
17-9804416-G-T	RCVRN	c.383C>A	p.A128D	Missense	2/3	-
20-44815235-T-G	CDH22	c.1655A>C	p.D552A	Missense	10/12	-
2-227662565-A-C	IRS1	c.890T>G	p.V297G	Missense	1/2	-
6-7883412-G-T	TXNDC5	c.1264C>A	p.R422S	Missense	10/10	-
5-140249214-G-T	PCDHA11	c.526G>T	p.E176*	Nonsense	1/4	-
7-71868255-C-T	CALN1	c.100G>A	p.A34T	Missense	2/7	-
7-143096878-T-G	EPHA1	c.701A>C	p.H234P	Missense	4/18	-
7-87846437-G-A	SRI	c.205C>T	p.P69S	Missense	3/8	-
17-10397889-G-T	MYH1	c.5568C>A	p.Y1856*	Nonsense	38/40	-
17-10397889-G-C	MYH1	c.5568C>G	p.Y1856*	Nonsense	38/40	-
17-65665690-C-G	PITPNC1	c.529C>G	p.H177D	Missense	7/9	-
1-158637741-C-A	SPTA1	c.1945G>T	p.E649*	Nonsense	15/52	-
19-37879987-G-A	ZNF527	c.1036G>A	p.A346T	Missense	5/5	-
17-65665756-AGA-TGT	PITPNC1	c.595_597delAGAinsTGT	p.R199C	Missense	7/9	-
X-27997715-C-G	DCAF8L1	c.1737G>C	p.E579D	Missense	1/1	-
X-27997715-C-A	DCAF8L1	c.1737G>T	p.E579D	Missense	1/1	-
13-95735508-C-G	ABCC4	c.2572G>C	p.V858L	Missense	21/31	-
13-95735508-C-A	ABCC4	c.2572G>T	p.V858L	Missense	21/31	-
5-140248953-CGG-AGC	PCDHA11	c.265_267delCGGinsAGC	p.R89S	Missense	1/4	-
1-3322123-A-C	PRDM16	c.1097A>C	p.H366P	Missense	8/17	-
14-101348095-C-T	RTL1	c.3031G>A	p.A1011T	Missense	4/4	-
1-35658149-T-G	SFPQ	c.502A>C	p.T168P	Missense	1/10	-
2-233655566-G-A	GIGYF2	c.871G>A	p.E291K	Missense	10/29	-
1-228871668-T-G	RHOU	c.179T>G	p.V60G	Missense	1/3	-
14-91636507-AG-CT	DGLUCY	c.418_419delAGinsCT	p.R140L	Missense	5/14	-
1-248512720-C-G	OR14C36	c.644C>G	p.S215C	Missense	1/1	-
2-6991658-C-A	CMPK2	c.1149G>T	p.L383F	Missense	4/5	-
2-6991658-C-G	CMPK2	c.1149G>C	p.L383F	Missense	4/5	-
17-33591842-G-C	SLFN5	c.1779G>C	p.E593D	Missense	4/5	-
17-33591842-G-T	SLFN5	c.1779G>T	p.E593D	Missense	4/5	-
17-36715976-T-G	SRCIN1	c.1870A>C	p.T624P	Missense	10/19	-
2-219736251-G-C	WNT6	c.346G>C	p.A116P	Missense	3/4	-
3-51297624-G-T	DOCK3	c.2222G>T	p.R741L	Missense	23/53	-
18-2891617-G-C	EMILIN2	c.1492G>C	p.E498Q	Missense	4/8	-
11-1083243-CTG-ATC	MUC2	c.2143_2145delCTGinsATC	p.L715I	Missense	16/51	-
11-1081126-C-G	MUC2	c.1422C>G	p.N474K	Missense	11/51	-
11-1081126-C-A	MUC2	c.1422C>A	p.N474K	Missense	11/51	-
X-48321353-C-G	SLC38A5	c.504G>C	p.L168F	Missense	9/17	-
18-28671005-G-A	DSC2	c.460C>T	p.L154F	Missense	4/16	-
2-74689417-G-T	MOGS	c.1499C>A	p.P500Q	Missense	4/4	-
21-43496158-G-C	UMODL1	c.121G>C	p.V41L	Missense	2/23	-
21-43496158-G-T	UMODL1	c.121G>T	p.V41L	Missense	2/23	-
4-49030650-C-A	CWH43	c.1271C>A	p.P424Q	Missense	10/16	-
18-76752104-A-T	SALL3	c.113A>T	p.D38V	Missense	2/3	-
22-22599557-G-T	VPREB1	c.246G>T	p.Q82H	Missense	2/2	-
22-22599557-G-C	VPREB1	c.246G>C	p.Q82H	Missense	2/2	-
1-45792832-C-T	HPDL	c.12C>T	p.P4=	Synonymous	1/1	-
1-45792832-C-G	HPDL	c.12C>G	p.P4=	Synonymous	1/1	-
1-45792832-C-A	HPDL	c.12C>A	p.P4=	Synonymous	1/1	-
1-44063520-A-C	PTPRF	c.1915A>C	p.I639L	Missense	12/34	-
2-161349863-C-T	RBMS1	c.12G>A	p.V4=	Synonymous	1/14	-
2-161349863-C-G	RBMS1	c.12G>C	p.V4=	Synonymous	1/14	-
2-161349863-C-A	RBMS1	c.12G>T	p.V4=	Synonymous	1/14	-
1-45793070-G-T	HPDL	c.250G>T	p.D84Y	Missense	1/1	-
4-79786836-T-C	BMP2K	c.1193T>C	p.V398A	Missense	10/16	-
X-107414669-T-G	COL4A6	c.3225A>C	p.E1075D	Missense	33/45	-
X-107414669-T-A	COL4A6	c.3225A>T	p.E1075D	Missense	33/45	-
1-158618405-C-A	SPTA1	c.3608G>T	p.C1203F	Missense	26/52	-
4-48996756-G-A	CWH43	c.632G>A	p.W211*	Nonsense	5/16	-
4-48996757-G-A	CWH43	c.633G>A	p.W211*	Nonsense	5/16	-
X-107418381-C-A	COL4A6	c.2895G>T	p.W965C	Missense	30/45	-
X-107418381-C-G	COL4A6	c.2895G>C	p.W965C	Missense	30/45	-
1-227935667-A-G	SNAP47	c.365A>G	p.K77R	Missense	2/5	-
2-20101587-G-T	TTC32	c.29C>A	p.A10E	Missense	1/3	-
2-74691765-T-C	MOGS	c.437A>G	p.Y146C	Missense	2/4	-
2-191301114-T-G	MFSD6	c.359T>G	p.F120C	Missense	3/8	-
16-67327800-G-T	KCTD19	c.1865C>A	p.S622Y	Missense	12/16	-
19-8175831-C-A	FBN3	c.4231G>T	p.G1411W	Missense	34/64	-
2-206869304-G-A	INO80D	c.2872C>T	p.P958S	Missense	11/11	-
19-10798063-G-C	ILF3	c.2113G>C	p.G705R	Missense	18/20	-
3-109023367-G-C	DPPA2	c.809C>G	p.S270C	Missense	7/9	-
5-140249992-G-A	PCDHA11	c.1304G>A	p.W435*	Nonsense	1/4	-
5-140249993-G-A	PCDHA11	c.1305G>A	p.W435*	Nonsense	1/4	-
22-20783823-CG-TA	SCARF2	c.1423_1424delCGinsTA	p.R475*	Nonsense	8/14	-
X-10535279-C-G	MID1	c.309G>C	p.E103D	Missense	2/10	-
5-114860520-G-A	FEM1C	c.1339C>T	p.H447Y	Missense	3/3	-
22-41968114-C-A	CSDC2	c.145C>A	p.L49M	Missense	2/4	-
5-137682473-G-T	FAM53C	c.1004G>T	p.S335I	Missense	5/5	-
21-38997532-C-A	KCNJ6	c.1201G>T	p.E401*	Nonsense	4/4	-
6-7883488-G-T	TXNDC5	c.1188C>A	p.Y396*	Nonsense	10/10	-
6-7883488-G-C	TXNDC5	c.1188C>G	p.Y396*	Nonsense	10/10	-
16-89592873-G-A	SPG7	c.755G>A	p.G252E	Missense	5/17	-
1-6267564-G-A	RNF207	c.317G>A	p.S106N	Missense	3/18	-
1-18023447-G-C	ARHGEF10L	c.3412G>C	p.A1138P	Missense	29/29	-
7-42065998-A-G	GLI3	c.1042T>C	p.F348L	Missense	8/15	-
7-42065996-G-T	GLI3	c.1044C>A	p.F348L	Missense	8/15	-
7-42065996-G-C	GLI3	c.1044C>G	p.F348L	Missense	8/15	-
2-113260644-G-C	TTL	c.761G>C	p.G254A	Missense	5/7	-
1-52498875-G-A	KTI12	c.559C>T	p.L187F	Missense	1/1	-
1-169576255-AG-CA	SELP	c.1450_1451delCTinsTG	p.L484W	Missense	9/17	-
7-23352451-T-G	IGF2BP3	c.1544A>C	p.N515T	Missense	14/15	-
2-32372315-G-C	SPAST	c.1716G>C	p.M572I	Missense	16/17	-
2-32372315-G-A	SPAST	c.1716G>A	p.M572I	Missense	16/17	-
2-32372315-G-T	SPAST	c.1716G>T	p.M572I	Missense	16/17	-
5-180632099-C-T	TRIM7	c.12G>A	p.V4=	Synonymous	1/7	-
5-180632099-C-G	TRIM7	c.12G>C	p.V4=	Synonymous	1/7	-
5-180632099-C-A	TRIM7	c.12G>T	p.V4=	Synonymous	1/7	-
6-56997879-C-A	ZNF451	c.464C>A	p.S155*	Nonsense	6/15	-
6-56997879-C-G	ZNF451	c.464C>G	p.S155*	Nonsense	6/15	-
3-96962925-G-A	EPHA6	c.1400G>A	p.G467D	Missense	5/18	-
7-28534574-G-C	CREB5	c.126G>C	p.M42I	Missense	3/11	-
7-28534574-G-A	CREB5	c.126G>A	p.M42I	Missense	3/11	-
3-113850144-A-C	DRD3	c.827T>G	p.L276W	Missense	6/7	-
22-21348216-GAG-AGGAGCTAA	LZTR1	c.1357_1359delinsAGGAGCTAA	p.E453delinsRS*	MultiAAMissense	13/21	-
6-57012448-GA-AC	ZNF451	c.1565_1566delGAinsAC	p.G522D	Missense	10/15	-
11-26552792-C-G	ANO3	c.778C>G	p.Q260E	Missense	8/27	-
3-187416759-G-A	RTP2	c.205C>T	p.H69Y	Missense	2/2	-
22-26168302-C-G	MYO18B	c.1694C>G	p.A565G	Missense	7/44	-
5-112389499-C-G	MCC	c.2371G>C	p.D791H	Missense	15/19	-
11-26664797-A-C	ANO3	c.2344A>C	p.N782H	Missense	23/27	-
1-186121966-T-G	HMCN1	c.14981T>G	p.V4994G	Missense	96/107	-
6-130762755-G-C	TMEM200A	c.1188G>C	p.K396N	Missense	3/3	-
6-130762755-G-T	TMEM200A	c.1188G>T	p.K396N	Missense	3/3	-
7-64452546-G-C	ERV3-1	c.859C>G	p.L287V	Missense	2/2	-
4-89579605-G-T	HERC3	c.1109G>T	p.G370V	Missense	10/26	-
7-64452547-G-C	ERV3-1	c.858C>G	p.S286R	Missense	2/2	-
7-64452547-G-T	ERV3-1	c.858C>A	p.S286R	Missense	2/2	-
7-64452549-T-G	ERV3-1	c.856A>C	p.S286R	Missense	2/2	-
4-90650392-C-G	SNCA	c.343G>C	p.D115H	Missense	5/6	-
7-77026703-T-A	GSAP	c.273A>T	p.Q91H	Missense	4/31	-
7-77026703-T-G	GSAP	c.273A>C	p.Q91H	Missense	4/31	-
5-180631831-G-C	TRIM7	c.280C>G	p.R94G	Missense	1/7	-
8-28984717-T-G	KIF13B	c.3144A>C	p.E1048D	Missense	25/40	-
8-28984717-T-A	KIF13B	c.3144A>T	p.E1048D	Missense	25/40	-
19-48785674-A-G	ZNF114	c.56A>G	p.E19G	Missense	5/6	-
6-109980534-C-A	AK9	c.527G>T	p.W176L	Missense	7/41	-
6-142409686-G-A	NMBR	c.110C>T	p.T37I	Missense	2/4	-
7-44268511-G-A	CAMK2B	c.1352C>T	p.S451F	Missense	19/24	-
1-185902807-T-C	HMCN1	c.1679T>C	p.V560A	Missense	11/107	-
7-113519209-C-G	PPP1R3A	c.1938G>C	p.Q646H	Missense	4/4	-
10-26417415-C-T	MYO3A	c.2210C>T	p.A737V	Missense	20/35	-
10-26243873-G-T	MYO3A	c.239G>T	p.R80I	Missense	4/35	-
1-185932973-C-G	HMCN1	c.2044C>G	p.L682V	Missense	13/107	-
10-96961761-A-T	ACSM6	c.212A>T	p.Y71F	Missense	3/11	-
11-55798610-C-A	OR5AS1	c.716C>A	p.S239Y	Missense	2/2	-
1-24486035-G-A	IFNLR1	c.599C>T	p.T200I	Missense	5/7	-
12-109847397-C-G	MYO1H	c.1143C>G	p.D381E	Missense	10/31	-
12-109847397-C-A	MYO1H	c.1143C>A	p.D381E	Missense	10/31	-
14-50811736-G-T	CDKL1	c.334C>A	p.L111M	Missense	4/10	-
17-39346581-C-G	KRTAP9-1	c.443C>G	p.S148C	Missense	1/1	-
19-44933344-G-C	ZNF229	c.1612C>G	p.L538V	Missense	6/6	-
19-44933354-C-G	ZNF229	c.1602G>C	p.M534I	Missense	6/6	-
19-44933354-C-T	ZNF229	c.1602G>A	p.M534I	Missense	6/6	-
19-44933354-C-A	ZNF229	c.1602G>T	p.M534I	Missense	6/6	-
20-62374323-T-A	SLC2A4RG	c.1144T>A	p.C382S	Missense	8/8	-
20-62374324-G-C	SLC2A4RG	c.1145G>C	p.C382S	Missense	8/8	-
10-35929908-G-C	FZD8	c.450C>G	p.D150E	Missense	1/1	-
10-35929908-G-T	FZD8	c.450C>A	p.D150E	Missense	1/1	-
1-35452960-A-C	ZMYM6	c.3723T>G	p.D1241E	Missense	16/16	-
1-35452960-A-T	ZMYM6	c.3723T>A	p.D1241E	Missense	16/16	-
7-154746006-G-A	PAXIP1	c.2780C>T	p.P927L	Missense	16/21	-
1-149920881-G-A	OTUD7B	c.1228C>T	p.R410*	Nonsense	10/12	-
6-109837228-CC-AT	AK9	c.3896_3897delGGinsAT	p.R1299H	Missense	31/41	-
X-135430468-G-C	ADGRG4	c.4603G>C	p.V1535L	Missense	6/26	-
X-135430468-G-T	ADGRG4	c.4603G>T	p.V1535L	Missense	6/26	-
7-154746082-G-A	PAXIP1	c.2704C>T	p.H902Y	Missense	16/21	-
13-21620098-C-A	LATS2	c.68G>T	p.R23L	Missense	2/8	-
1-27023980-G-C	ARID1A	c.1086G>C	p.M362I	Missense	1/20	-
17-36493540-A-G	GPR179	c.967T>C	p.F323L	Missense	3/11	-
17-36493538-G-T	GPR179	c.969C>A	p.F323L	Missense	3/11	-
17-36493538-G-C	GPR179	c.969C>G	p.F323L	Missense	3/11	-
3-142281670-C-T	ATR	c.574G>A	p.A192T	Missense	4/47	-
2-238305426-A-G	COL6A3	c.35T>C	p.V12A	Missense	2/44	-
2-108627177-G-T	SLC5A7	c.1603G>T	p.E535*	Nonsense	9/9	-
19-58596461-T-C	ZSCAN18	c.1124A>G	p.E375G	Missense	7/7	-
8-10465751-G-C	RP1L1	c.5857C>G	p.Q1953E	Missense	4/4	-
3-183754538-C-T	HTR3D	c.370C>T	p.R124W	Missense	5/8	-
6-43581801-C-T	POLH	c.1649C>T	p.S550F	Missense	11/11	-
X-79947462-T-C	BRWD3	c.3341A>G	p.E1114G	Missense	30/41	-
1-222801667-C-T	MIA3	c.1105C>T	p.P369S	Missense	4/28	-
20-2312713-G-A	TGM3	c.1399G>A	p.A467T	Missense	10/13	-
1-222798152-GTA-ATG	MIA3	c.310_312delGTAinsATG	p.V104M	Missense	3/28	-
10-61830054-C-A	ANK3	c.10585G>T	p.A3529S	Missense	37/44	-
3-42676111-T-G	NKTR	c.936T>G	p.I312M	Missense	11/17	-
11-1874422-G-T	LSP1	c.48G>T	p.L16F	Missense	1/11	-
11-1874422-G-C	LSP1	c.48G>C	p.L16F	Missense	1/11	-
12-110028598-C-A	MVK	c.700C>A	p.L234M	Missense	8/11	-
14-105877825-C-T	TEX22	c.271C>T	p.H91Y	Missense	3/4	-
16-67331548-G-T	KCTD19	c.1005C>A	p.C335*	Nonsense	7/16	-
15-78882857-C-G	CHRNA5	c.1124C>G	p.T375S	Missense	5/6	-
15-78882856-A-T	CHRNA5	c.1123A>T	p.T375S	Missense	5/6	-
1-6214806-A-C	CHD5	c.659T>G	p.V220G	Missense	5/42	-
7-154767775-TG-AA	PAXIP1	c.704_705delCAinsTT	p.S235F	Missense	6/21	-
1-235897154-T-C	LYST	c.8588A>G	p.K2863R	Missense	33/53	-
1-170993813-C-G	MROH9	c.2085C>G	p.I695M	Missense	19/22	-
13-21562560-C-G	LATS2	c.1359G>C	p.E453D	Missense	4/8	-
13-21562560-C-A	LATS2	c.1359G>T	p.E453D	Missense	4/8	-
3-42642550-G-T	NKTR	c.52G>T	p.E18*	Nonsense	2/17	-
3-46245246-A-G	CCR1	c.559T>C	p.F187L	Missense	2/2	-
3-46245244-A-T	CCR1	c.561T>A	p.F187L	Missense	2/2	-
3-46245244-A-C	CCR1	c.561T>G	p.F187L	Missense	2/2	-
4-70803541-G-C	CSN1S1	c.243G>C	p.E81D	Missense	9/16	-
4-70803541-G-T	CSN1S1	c.243G>T	p.E81D	Missense	9/16	-
5-64483883-T-C	ADAMTS6	c.2870A>G	p.Q957R	Missense	22/25	-
1-27679826-CGA-TGT	SYTL1	c.1396_1398delCGAinsTGT	p.R466C	Missense	14/15	-
7-107756455-G-T	LAMB4	c.186C>A	p.Y62*	Nonsense	3/34	-
7-107756455-G-C	LAMB4	c.186C>G	p.Y62*	Nonsense	3/34	-
10-106153230-G-T	CFAP58	c.1671G>T	p.L557F	Missense	11/18	-
10-106153230-G-C	CFAP58	c.1671G>C	p.L557F	Missense	11/18	-
3-46245749-C-A	CCR1	c.56G>T	p.G19V	Missense	2/2	-
12-57485644-C-G	NAB2	c.820C>G	p.L274V	Missense	2/7	-
12-57485233-C-T	NAB2	c.409C>T	p.R137W	Missense	2/7	-
4-70807770-G-A	CSN1S1	c.349G>A	p.A117T	Missense	13/16	-
1-235973770-T-G	LYST	c.348A>C	p.R116S	Missense	5/53	-
1-235973770-T-A	LYST	c.348A>T	p.R116S	Missense	5/53	-
19-9296879-G-A	OR7D2	c.422G>A	p.C141Y	Missense	3/3	-
10-17152942-A-C	CUBN	c.991T>G	p.S331A	Missense	9/67	-
20-31680375-C-A	BPIFB4	c.1255C>A	p.Q419K	Missense	11/18	-
15-93198878-C-T	FAM174B	c.12G>A	p.V4=	Synonymous	1/3	-
11-70170986-AGG-TGT	PPFIA1	c.400_402delAGGinsTGT	p.R134C	Missense	4/28	-
12-5154020-T-C	KCNA5	c.707T>C	p.V236A	Missense	1/1	-
6-155099145-A-G	SCAF8	c.125A>G	p.H42R	Missense	3/20	-
12-52642403-C-G	KRT7	c.1269C>G	p.S423R	Missense	9/9	-
12-52642403-C-A	KRT7	c.1269C>A	p.S423R	Missense	9/9	-
12-52642401-A-C	KRT7	c.1267A>C	p.S423R	Missense	9/9	-
12-52642404-A-T	KRT7	c.1270A>T	p.S424C	Missense	9/9	-
11-70200407-TTG-ATC	PPFIA1	c.2164_2166delTTGinsATC	p.L722I	Missense	17/28	-
12-77423612-T-G	E2F7	c.1883A>C	p.K628T	Missense	10/13	-
12-128899566-T-A	TMEM132C	c.375T>A	p.F125L	Missense	2/9	-
12-128899566-T-G	TMEM132C	c.375T>G	p.F125L	Missense	2/9	-
13-21562231-C-T	LATS2	c.1688G>A	p.G563E	Missense	4/8	-
13-26788155-T-C	RNF6	c.1864A>G	p.N622D	Missense	5/5	-
13-52532551-C-A	ATP7B	c.2251G>T	p.A751S	Missense	8/21	-
9-135753562-C-G	AK8	c.81G>C	p.M27I	Missense	1/13	-
9-135753562-C-T	AK8	c.81G>A	p.M27I	Missense	1/13	-
9-135753562-C-A	AK8	c.81G>T	p.M27I	Missense	1/13	-
14-42356925-C-A	LRFN5	c.1097C>A	p.A366E	Missense	3/6	-
14-92471227-C-G	TRIP11	c.3093G>C	p.E1031D	Missense	11/21	-
14-92471227-C-A	TRIP11	c.3093G>T	p.E1031D	Missense	11/21	-
15-76633631-T-C	ISL2	c.952T>C	p.F318L	Missense	5/6	-
15-76633633-C-A	ISL2	c.954C>A	p.F318L	Missense	5/6	-
15-76633633-C-G	ISL2	c.954C>G	p.F318L	Missense	5/6	-
16-705451-G-C	WDR90	c.1701G>C	p.E567D	Missense	15/41	-
16-705451-G-T	WDR90	c.1701G>T	p.E567D	Missense	15/41	-
4-169197287-C-A	DDX60	c.2024G>T	p.R675M	Missense	15/38	-
16-15730193-A-G	MARF1	c.151T>C	p.Y51H	Missense	3/27	-
16-66951628-C-A	CDH16	c.46G>T	p.A16S	Missense	3/18	-
16-77859309-A-G	VAT1L	c.530A>G	p.N177S	Missense	3/9	-
16-89755690-G-C	CDK10	c.118G>C	p.E40Q	Missense	2/13	-
16-707788-G-C	WDR90	c.2500G>C	p.A834P	Missense	21/41	-
17-17425690-T-G	PEMT	c.224A>C	p.K75T	Missense	3/7	-
17-33586018-C-G	SLFN5	c.309C>G	p.N103K	Missense	2/5	-
17-33586018-C-A	SLFN5	c.309C>A	p.N103K	Missense	2/5	-
14-68282669-T-A	ZFYVE26	c.12A>T	p.P4=	Synonymous	2/42	-
14-68282669-T-C	ZFYVE26	c.12A>G	p.P4=	Synonymous	2/42	-
14-68282669-T-G	ZFYVE26	c.12A>C	p.P4=	Synonymous	2/42	-
8-144941510-G-T	EPPK1	c.5912C>A	p.A1971D	Missense	2/3	-
5-140724549-A-T	PCDHGA3	c.949A>T	p.I317F	Missense	1/4	-
6-41613954-A-G	MDFI	c.167A>G	p.E56G	Missense	3/5	-
2-219297613-C-T	VIL1	c.1439C>T	p.P480L	Missense	13/20	-
6-155153898-G-A	SCAF8	c.3185G>A	p.R1062K	Missense	20/20	-
6-158900903-C-A	TULP4	c.1147C>A	p.Q383K	Missense	7/14	-
7-12644181-C-T	SCIN	c.559C>T	p.R187C	Missense	4/16	-
7-63982060-C-T	ZNF680	c.1072G>A	p.A358T	Missense	4/4	-
8-139890100-T-C	COL22A1	c.551A>G	p.E184G	Missense	3/65	-
4-89912167-T-A	FAM13A	c.562A>T	p.N188Y	Missense	4/24	-
3-46021224-CCC-ACA	FYCO1	c.259_261delGGGinsTGT	p.G87C	Missense	4/18	-
2-37455027-C-T	CEBPZ	c.1309G>A	p.A437T	Missense	2/16	-
7-155556533-C-G	RBM33	c.3007C>G	p.P1003A	Missense	15/18	-
8-17796480-G-A	PCM1	c.574G>A	p.E192K	Missense	5/39	-
8-29013285-G-A	KIF13B	c.1493C>T	p.T498M	Missense	14/40	-
8-68423856-T-C	CPA6	c.352A>G	p.K118E	Missense	4/11	-
3-184071539-G-C	CLCN2	c.1766C>G	p.P589R	Missense	16/24	-
8-68931898-C-T	PREX2	c.328C>T	p.L110F	Missense	3/40	-
4-115856364-G-T	NDST4	c.1534C>A	p.P512T	Missense	6/14	-
2-219294615-G-T	VIL1	c.893G>T	p.W298L	Missense	9/20	-
8-70488403-G-A	SULF1	c.371G>A	p.R124Q	Missense	6/23	-
4-24534582-C-A	DHX15	c.2005G>T	p.D669Y	Missense	12/14	-
8-80950458-C-T	TPD52	c.517G>A	p.G173R	Missense	8/8	-
8-80950458-C-G	TPD52	c.517G>C	p.G173R	Missense	8/8	-
8-133899296-A-T	TG	c.1679A>T	p.E560V	Missense	9/48	-
8-139705933-C-T	COL22A1	c.2710G>A	p.G904R	Missense	35/65	-
8-139705933-C-G	COL22A1	c.2710G>C	p.G904R	Missense	35/65	-
8-144944289-C-T	EPPK1	c.3133G>A	p.A1045T	Missense	2/3	-
3-151545531-T-G	AADAC	c.771T>G	p.D257E	Missense	5/5	-
3-151545531-T-A	AADAC	c.771T>A	p.D257E	Missense	5/5	-
8-28929315-CG-AT	KIF13B	c.5039_5040delCGinsAT	p.P1680H	Missense	39/40	-
2-37450464-T-C	CEBPZ	c.1730A>G	p.D577G	Missense	3/16	-
2-37428952-C-G	CEBPZ	c.3120G>C	p.K1040N	Missense	16/16	-
2-37428952-C-A	CEBPZ	c.3120G>T	p.K1040N	Missense	16/16	-
9-135750586-T-C	AK8	c.85A>G	p.N29D	Missense	2/13	-
3-46008775-A-G	FYCO1	c.2051T>C	p.V684A	Missense	8/18	-
9-140126581-C-A	SLC34A3	c.143C>A	p.P48H	Missense	3/13	-
6-152765585-T-G	SYNE1	c.3798A>C	p.E1266D	Missense	30/146	-
10-5567349-G-A	CALML3	c.301G>A	p.V101I	Missense	1/1	-
10-15761688-C-A	ITGA8	c.83G>T	p.G28V	Missense	1/30	-
8-144947186-G-T	EPPK1	c.236C>A	p.A79E	Missense	2/3	-
8-70488303-CGG-ATC	SULF1	c.271_273delCGGinsATC	p.R91I	Missense	6/23	-
5-140347105-G-A	PCDHAC2	c.754G>A	p.D252N	Missense	1/4	-
10-82187238-G-A	PRXL2A	c.562G>A	p.G188R	Missense	5/6	-
10-82187238-G-C	PRXL2A	c.562G>C	p.G188R	Missense	5/6	-
5-140724063-A-G	PCDHGA3	c.463A>G	p.K155E	Missense	1/4	-
10-96454809-G-A	CYP2C18	c.617G>A	p.R206K	Missense	4/9	-
5-141019750-C-T	RELL2	c.767C>T	p.P256L	Missense	5/7	-
11-2869220-A-G	KCNQ1	c.2018A>G	p.D673G	Missense	16/16	-
2-241536270-C-A	CAPN10	c.1654C>A	p.P552T	Missense	9/12	-
2-37456177-T-A	CEBPZ	c.159A>T	p.Q53H	Missense	2/16	-
2-37456177-T-G	CEBPZ	c.159A>C	p.Q53H	Missense	2/16	-
2-141773412-C-G	LRP1B	c.2043G>C	p.M681I	Missense	13/91	-
2-141773412-C-A	LRP1B	c.2043G>T	p.M681I	Missense	13/91	-
2-241533992-T-C	CAPN10	c.863T>C	p.V288A	Missense	6/12	-
11-70194474-G-A	PPFIA1	c.2111G>A	p.R704K	Missense	16/28	-
6-149068631-G-A	UST	c.65G>A	p.G22E	Missense	1/8	-
11-134162104-G-A	GLB1L3	c.808G>A	p.G270R	Missense	8/20	-
11-134162104-G-C	GLB1L3	c.808G>C	p.G270R	Missense	8/20	-
2-29129398-G-T	WDR43	c.436G>T	p.D146Y	Missense	3/18	-
12-4919257-G-T	KCNA6	c.50G>T	p.G17V	Missense	1/2	-
14-38679733-G-T	SSTR1	c.1139G>T	p.R380L	Missense	3/3	-
16-16276298-C-A	ABCC6	c.2218G>T	p.E740*	Nonsense	17/31	-
17-68171815-G-T	KCNJ2	c.635G>T	p.W212L	Missense	2/2	-
20-55027258-G-T	CASS4	c.1026G>T	p.Q342H	Missense	5/6	-
20-55027258-G-C	CASS4	c.1026G>C	p.Q342H	Missense	5/6	-
X-27998865-G-T	DCAF8L1	c.587C>A	p.A196D	Missense	1/1	-
1-6641125-A-C	ZBTB48	c.456A>C	p.E152D	Missense	2/11	-
20-55025724-AG-CC	CASS4	c.631_632delAGinsCC	p.S211P	Missense	4/6	-
1-76257162-T-C	RABGGTB	c.485T>C	p.I162T	Missense	6/9	-
1-152082804-A-C	TCHH	c.2889T>G	p.D963E	Missense	3/3	-
1-152082804-A-T	TCHH	c.2889T>A	p.D963E	Missense	3/3	-
4-88536475-A-T	DSPP	c.2661A>T	p.E887D	Missense	5/5	-
4-113538657-C-G	ZGRF1	c.2541G>C	p.K847N	Missense	6/28	-
4-113538657-C-A	ZGRF1	c.2541G>T	p.K847N	Missense	6/28	-
6-30917284-T-G	MUCL3	c.1043T>G	p.M348R	Missense	2/3	-
13-42460948-A-G	VWA8	c.835T>C	p.Y279H	Missense	7/45	-
12-102021551-G-T	MYBPC1	c.147G>T	p.L49F	Missense	5/32	-
12-102021551-G-C	MYBPC1	c.147G>C	p.L49F	Missense	5/32	-
9-136582460-C-T	SARDH	c.1138G>A	p.V380I	Missense	8/21	-
13-100206619-A-G	TM9SF2	c.1550A>G	p.Y517C	Missense	14/17	-
7-100679867-T-A	MUC17	c.5170T>A	p.S1724T	Missense	3/13	-
7-47925520-C-G	PKD1L1	c.2969G>C	p.R990P	Missense	18/57	-
10-129901408-A-G	MKI67	c.8696T>C	p.I2899T	Missense	13/15	-
13-49852582-G-T	CDADC1	c.1147G>T	p.D383Y	Missense	7/10	-
11-51412097-A-T	OR4A5	c.299T>A	p.F100Y	Missense	1/1	-
5-137803369-CG-AC	EGR1	c.1231_1232delCGinsAC	p.R411T	Missense	2/2	-
3-179132686-C-A	GNB4	c.417G>T	p.L139F	Missense	6/10	-
3-179132686-C-G	GNB4	c.417G>C	p.L139F	Missense	6/10	-
11-67266229-G-A	PITPNM1	c.1322C>T	p.S441L	Missense	10/24	-
4-113539871-G-A	ZGRF1	c.1327C>T	p.Q443*	Nonsense	6/28	-
2-21245782-C-T	APOB	c.2737G>A	p.A913T	Missense	18/29	-
12-26748503-G-C	ITPR2	c.4275C>G	p.N1425K	Missense	32/57	-
12-26748503-G-T	ITPR2	c.4275C>A	p.N1425K	Missense	32/57	-
8-38285876-G-C	FGFR1	c.436C>G	p.P146A	Missense	4/18	-
12-49217473-G-C	CACNB3	c.178G>C	p.V60L	Missense	3/13	-
12-49217473-G-T	CACNB3	c.178G>T	p.V60L	Missense	3/13	-
17-42882073-T-G	GJC1	c.1113A>C	p.K371N	Missense	3/3	-
17-42882073-T-A	GJC1	c.1113A>T	p.K371N	Missense	3/3	-
7-143701945-T-C	OR6B1	c.856T>C	p.F286L	Missense	2/2	-
7-143701947-C-G	OR6B1	c.858C>G	p.F286L	Missense	2/2	-
17-62130647-G-A	ERN1	c.2038C>T	p.H680Y	Missense	16/22	-
8-133623564-G-T	DNAAF11	c.1020C>A	p.Y340*	Nonsense	9/12	-
8-133623564-G-C	DNAAF11	c.1020C>G	p.Y340*	Nonsense	9/12	-
17-62135352-A-C	ERN1	c.1208T>G	p.V403G	Missense	12/22	-
22-26897883-C-T	TFIP11	c.784G>A	p.E262K	Missense	8/15	-
22-32923914-G-T	SYN3	c.1309C>A	p.P437T	Missense	12/14	-
22-36710282-C-T	MYH9	c.1462G>A	p.E488K	Missense	13/41	-
1-61554286-C-A	NFIA	c.493C>A	p.P165T	Missense	2/11	-
X-136113194-C-G	GPR101	c.640G>C	p.V214L	Missense	2/2	-
X-136113194-C-A	GPR101	c.640G>T	p.V214L	Missense	2/2	-
X-154128219-C-T	F8	c.6195G>A	p.W2065*	Nonsense	21/26	-
19-15491093-T-G	AKAP8L	c.1781A>C	p.E594A	Missense	14/14	-
1-169762352-T-A	METTL18	c.485A>T	p.Y162F	Missense	2/2	-
2-21234357-T-G	APOB	c.5383A>C	p.T1795P	Missense	26/29	-
2-98411543-C-T	TMEM131	c.3236G>A	p.R1079Q	Missense	29/41	-
6-169625275-C-G	THBS2	c.2738G>C	p.R913P	Missense	17/22	-
8-107773455-G-T	ABRA	c.956C>A	p.T319K	Missense	2/2	-
11-130332028-G-C	ADAMTS15	c.1137G>C	p.E379D	Missense	3/8	-
11-130332028-G-T	ADAMTS15	c.1137G>T	p.E379D	Missense	3/8	-
16-52498054-G-A	TOX3	c.200C>T	p.P67L	Missense	3/7	-
17-34958346-G-C	MRM1	c.107G>C	p.S36T	Missense	1/5	-
9-79836166-G-A	VPS13A	c.1055G>A	p.W352*	Nonsense	13/72	-
9-79836167-G-A	VPS13A	c.1056G>A	p.W352*	Nonsense	13/72	-
17-34958466-C-T	MRM1	c.227C>T	p.A76V	Missense	1/5	-
18-30977137-T-C	CCDC178	c.94A>G	p.K32E	Missense	4/23	-
18-30873252-A-C	CCDC178	c.1047T>G	p.S349R	Missense	12/23	-
18-30873252-A-T	CCDC178	c.1047T>A	p.S349R	Missense	12/23	-
18-30873254-T-G	CCDC178	c.1045A>C	p.S349R	Missense	12/23	-
20-1552619-G-C	SIRPB1	c.498C>G	p.S166R	Missense	3/6	-
20-1552619-G-T	SIRPB1	c.498C>A	p.S166R	Missense	3/6	-
20-1552621-T-G	SIRPB1	c.496A>C	p.S166R	Missense	3/6	-
21-45876849-T-C	LRRC3	c.322T>C	p.F108L	Missense	2/2	-
21-45876851-C-A	LRRC3	c.324C>A	p.F108L	Missense	2/2	-
21-45876851-C-G	LRRC3	c.324C>G	p.F108L	Missense	2/2	-
22-36702015-C-G	MYH9	c.2120G>C	p.G707A	Missense	17/41	-
21-45876539-G-A	LRRC3	c.12G>A	p.V4=	Synonymous	2/2	-
21-45876539-G-C	LRRC3	c.12G>C	p.V4=	Synonymous	2/2	-
21-45876539-G-T	LRRC3	c.12G>T	p.V4=	Synonymous	2/2	-
17-80274156-G-A	CD7	c.527C>T	p.A176V	Missense	3/4	-
X-64958423-C-A	MSN	c.1288C>A	p.Q430K	Missense	11/13	-
10-120833337-G-T	EIF3A	c.162C>A	p.Y54*	Nonsense	2/22	-
10-120833337-G-C	EIF3A	c.162C>G	p.Y54*	Nonsense	2/22	-
4-169086405-C-G	ANXA10	c.408C>G	p.S136R	Missense	6/12	-
4-169086405-C-A	ANXA10	c.408C>A	p.S136R	Missense	6/12	-
6-89895050-G-T	GABRR1	c.775C>A	p.L259M	Missense	7/10	-
6-151869451-C-T	CCDC170	c.601C>T	p.R201C	Missense	5/11	-
7-100350175-G-C	ZAN	c.2447G>C	p.S816T	Missense	14/49	-
9-17502635-G-C	CNTLN	c.4206G>C	p.M1402I	Missense	26/26	-
9-17502635-G-A	CNTLN	c.4206G>A	p.M1402I	Missense	26/26	-
4-169086403-A-C	ANXA10	c.406A>C	p.S136R	Missense	6/12	-
19-19905716-T-G	ZNF506	c.980A>C	p.N327T	Missense	4/4	-
9-17502635-G-T	CNTLN	c.4206G>T	p.M1402I	Missense	26/26	-
20-62850362-A-C	MYT1	c.1945A>C	p.T649P	Missense	12/23	-
17-73892937-C-T	TRIM65	c.82G>A	p.G28S	Missense	1/6	-
18-28971045-A-T	DSG4	c.689A>T	p.H230L	Missense	7/16	-
2-30143434-GA-CC	ALK	c.91_92delTCinsGG	p.S31G	Missense	1/29	-
3-151598848-A-G	SUCNR1	c.517A>G	p.N173D	Missense	3/3	-
17-39406093-TC-GG	KRTAP9-4	c.121_122delTCinsGG	p.S41G	Missense	1/1	-
19-37240510-A-G	ZNF850	c.1432T>C	p.C478R	Missense	5/5	-
15-24923386-A-T	NPAP1	c.2372A>T	p.D791V	Missense	1/1	-
19-57175228-T-G	ZNF835	c.1339A>C	p.T447P	Missense	2/2	-
14-105932783-A-C	MTA1	c.1645A>C	p.K549Q	Missense	17/21	-
11-62301448-C-A	AHNAK	c.441G>T	p.Q147H	Missense	5/5	-
11-62301448-C-G	AHNAK	c.441G>C	p.Q147H	Missense	5/5	-
3-195517452-GG-CT	MUC4	c.998_999delCCinsAG	p.T333K	Missense	2/25	-
1-18703376-A-C	IGSF21	c.1184A>C	p.K395T	Missense	8/10	-
1-22188265-C-A	HSPG2	c.4940G>T	p.G1647V	Missense	39/97	-
6-33703199-C-T	IP6K3	c.55G>A	p.E19K	Missense	2/6	-
17-39406148-A-C	KRTAP9-4	c.176A>C	p.N59T	Missense	1/1	-
10-58119603-T-A	ZWINT	c.268A>T	p.I90F	Missense	4/9	-
12-121880218-C-T	KDM2B	c.3026G>A	p.R1009Q	Missense	19/23	-
19-16855523-C-T	NWD1	c.490C>T	p.R164W	Missense	5/19	-
19-20044744-T-C	ZNF93	c.980T>C	p.I327T	Missense	4/4	-
19-21991251-T-G	ZNF43	c.1588A>C	p.I530L	Missense	4/4	-
19-21991251-T-A	ZNF43	c.1588A>T	p.I530L	Missense	4/4	-
7-100676965-A-C	MUC17	c.2268A>C	p.K756N	Missense	3/13	-
7-100676965-A-T	MUC17	c.2268A>T	p.K756N	Missense	3/13	-
1-207818590-C-T	CR1L	c.12C>T	p.P4=	Synonymous	1/12	-
1-207818590-C-G	CR1L	c.12C>G	p.P4=	Synonymous	1/12	-
1-207818590-C-A	CR1L	c.12C>A	p.P4=	Synonymous	1/12	-
19-59073984-A-C	MZF1	c.1660T>G	p.S554A	Missense	6/6	-
6-160466886-G-C	IGF2R	c.1875G>C	p.E625D	Missense	14/48	-
6-160466886-G-T	IGF2R	c.1875G>T	p.E625D	Missense	14/48	-
17-7576902-GA-AT	TP53	c.943_944delTCinsAT	p.S315I	Missense	9/11	-
7-6196638-CG-AGGGA	USP42	c.3895_3897delinsAGGGAG	p.R1299_M1300insE	MultiAAMissense	16/18	-
6-30918388-T-C	MUCL3	c.2147T>C	p.L716P	Missense	2/3	-
X-70823612-A-G	GCNA	c.485A>G	p.N162S	Missense	8/13	-
3-154033031-G-T	DHX36	c.407C>A	p.S136*	Nonsense	3/25	-
3-154033031-G-C	DHX36	c.407C>G	p.S136*	Nonsense	3/25	-
4-38776315-C-G	TLR10	c.897G>C	p.M299I	Missense	4/4	-
4-38776315-C-T	TLR10	c.897G>A	p.M299I	Missense	4/4	-
4-38776315-C-A	TLR10	c.897G>T	p.M299I	Missense	4/4	-
1-152328725-C-T	FLG2	c.1537G>A	p.G513R	Missense	3/3	-
1-152328725-C-G	FLG2	c.1537G>C	p.G513R	Missense	3/3	-
1-20991160-A-G	KIF17	c.3004T>C	p.F1002L	Missense	15/15	-
1-20991158-G-T	KIF17	c.3006C>A	p.F1002L	Missense	15/15	-
1-20991158-G-C	KIF17	c.3006C>G	p.F1002L	Missense	15/15	-
3-151599232-C-A	SUCNR1	c.901C>A	p.H301N	Missense	3/3	-
6-143095601-T-G	HIVEP2	c.275A>C	p.Y92S	Missense	5/10	-
7-105195586-C-G	RINT1	c.1583C>G	p.T528S	Missense	11/15	-
7-105195585-A-T	RINT1	c.1582A>T	p.T528S	Missense	11/15	-
1-207867795-C-A	CR1L	c.561C>A	p.C187*	Nonsense	5/12	-
10-15154926-A-G	NMT2	c.1207T>C	p.Y403H	Missense	10/12	-
10-79769661-C-G	POLR3A	c.1731G>C	p.E577D	Missense	13/31	-
10-79769661-C-A	POLR3A	c.1731G>T	p.E577D	Missense	13/31	-
20-62839523-C-T	MYT1	c.974C>T	p.A325V	Missense	7/23	-
5-176618979-T-G	NSD1	c.1022T>G	p.I341S	Missense	3/23	-
14-55903544-C-T	TBPL2	c.343G>A	p.V115I	Missense	2/7	-
7-124499115-C-G	POT1	c.598G>C	p.D200H	Missense	9/19	-
10-79741284-T-G	POLR3A	c.3793A>C	p.T1265P	Missense	29/31	-
16-28507425-G-T	APOBR	c.1063G>T	p.G355W	Missense	2/4	-
19-57175270-G-C	ZNF835	c.1297C>G	p.L433V	Missense	2/2	-
1-220375705-C-A	RAB3GAP2	c.724G>T	p.G242C	Missense	9/35	-
7-124503435-G-T	POT1	c.515C>A	p.A172E	Missense	8/19	-
19-57175950-A-G	ZNF835	c.617T>C	p.V206A	Missense	2/2	-
17-42477954-A-C	GPATCH8	c.1491T>G	p.S497R	Missense	8/8	-
17-42477954-A-T	GPATCH8	c.1491T>A	p.S497R	Missense	8/8	-
17-42477956-T-G	GPATCH8	c.1489A>C	p.S497R	Missense	8/8	-
17-47583903-G-A	NGFR	c.451G>A	p.D151N	Missense	3/6	-
12-54917716-G-T	NCKAP1L	c.2132G>T	p.S711I	Missense	20/31	-
19-4013259-G-T	PIAS4	c.366G>T	p.L122F	Missense	2/11	-
19-4013259-G-C	PIAS4	c.366G>C	p.L122F	Missense	2/11	-
19-57641250-G-T	USP29	c.1207G>T	p.D403Y	Missense	4/4	-
19-9084316-G-T	MUC16	c.7499C>A	p.P2500Q	Missense	1/84	-
15-74467314-C-T	ISLR	c.115C>T	p.R39C	Missense	2/2	-
16-29997709-A-C	TAOK2	c.2116A>C	p.T706P	Missense	16/16	-
21-34399759-C-A	OLIG2	c.589C>A	p.P197T	Missense	2/2	-
17-17720630-A-G	SREBF1	c.1546T>C	p.S516P	Missense	8/19	-
7-135309986-C-G	NUP205	c.4554C>G	p.N1518K	Missense	32/43	-
7-135309986-C-A	NUP205	c.4554C>A	p.N1518K	Missense	32/43	-
7-100172848-A-C	LRCH4	c.1934T>G	p.V645G	Missense	18/18	-
18-19756992-C-G	GATA6	c.1212C>G	p.D404E	Missense	3/7	-
18-19756992-C-A	GATA6	c.1212C>A	p.D404E	Missense	3/7	-
21-34399336-CGC-TGA	OLIG2	c.166_168delCGCinsTGA	p.R56*	Nonsense	2/2	-
1-175066727-C-A	TNN	c.1763C>A	p.T588K	Missense	8/19	-
7-99226919-C-A	ZSCAN25	c.911C>A	p.P304H	Missense	8/8	-
6-146708065-A-C	GRM1	c.1642A>C	p.T548P	Missense	6/8	-
1-206902124-A-C	MAPKAPK2	c.349A>C	p.I117L	Missense	2/10	-
19-1456129-C-T	APC2	c.694C>T	p.R232*	Nonsense	7/15	-
2-97217400-G-A	ARID5A	c.1135G>A	p.G379R	Missense	7/7	-
2-97217400-G-C	ARID5A	c.1135G>C	p.G379R	Missense	7/7	-
19-12385812-T-A	ZNF44	c.167A>T	p.H56L	Missense	3/4	-
19-14266256-G-A	ADGRL1	c.3209C>T	p.S1070L	Missense	18/23	-
X-13764523-T-G	OFD1	c.603T>G	p.N201K	Missense	7/23	-
X-13764523-T-A	OFD1	c.603T>A	p.N201K	Missense	7/23	-
1-165860552-C-G	UCK2	c.349C>G	p.H117D	Missense	3/7	-
11-22215050-G-T	ANO5	c.12G>T	p.P4=	Synonymous	1/22	-
11-22215050-G-A	ANO5	c.12G>A	p.P4=	Synonymous	1/22	-
11-22215050-G-C	ANO5	c.12G>C	p.P4=	Synonymous	1/22	-
2-29293944-C-G	PCARE	c.3184G>C	p.E1062Q	Missense	1/2	-
2-29297084-G-A	PCARE	c.44C>T	p.A15V	Missense	1/2	-
7-45122047-C-G	NACAD	c.3732G>C	p.E1244D	Missense	2/8	-
7-45122047-C-A	NACAD	c.3732G>T	p.E1244D	Missense	2/8	-
11-3660015-C-T	ART5	c.829G>A	p.G277R	Missense	4/4	-
11-3660015-C-G	ART5	c.829G>C	p.G277R	Missense	4/4	-
17-17716154-C-T	SREBF1	c.3226G>A	p.E1076K	Missense	19/19	-
16-15832536-G-A	MYH11	c.3007C>T	p.L1003F	Missense	24/41	-
19-49259571-C-A	FGF21	c.78C>A	p.C26*	Nonsense	2/4	-
1-38005927-G-A	SNIP1	c.757C>T	p.R253C	Missense	3/4	-
2-29294571-T-G	PCARE	c.2557A>C	p.K853Q	Missense	1/2	-
2-103299931-G-T	SLC9A2	c.1216G>T	p.A406S	Missense	4/12	-
6-129663562-G-T	LAMA2	c.4386G>T	p.L1462F	Missense	30/65	-
6-129663562-G-C	LAMA2	c.4386G>C	p.L1462F	Missense	30/65	-
18-9122544-GTA-ATG	NDUFV2	c.334_336delGTAinsATG	p.V112M	Missense	5/8	-
7-143956670-C-G	OR2A7	c.52G>C	p.V18L	Missense	2/2	-
7-143956672-G-A	OR2A7	c.50C>T	p.P17L	Missense	2/2	-
2-103274182-T-G	SLC9A2	c.449T>G	p.V150G	Missense	2/12	-
12-117612537-G-T	FBXO21	c.658C>A	p.Q220K	Missense	5/12	-
15-56152691-C-G	NEDD4	c.874G>C	p.D292H	Missense	11/29	-
17-8701136-C-A	MFSD6L	c.1303G>T	p.G435W	Missense	1/1	-
17-10406439-G-T	MYH1	c.2818C>A	p.L940M	Missense	23/40	-
17-39768853-G-A	KRT16	c.88C>T	p.R30C	Missense	1/8	-
17-72848191-T-G	GRIN2C	c.959A>C	p.H320P	Missense	3/13	-
8-8560747-A-C	CLDN23	c.839A>C	p.H280P	Missense	1/1	-
19-54649370-G-A	CNOT3	c.520G>A	p.E174K	Missense	8/18	-
19-45889408-A-G	PPP1R13L	c.1846T>C	p.S616P	Missense	9/13	-
20-3102456-G-T	UBOX5	c.829C>A	p.L277M	Missense	3/5	-
1-179095527-GG-CA	ABL2	c.671_672delCCinsTG	p.T224M	Missense	4/12	-
11-22296274-C-G	ANO5	c.2395C>G	p.R799G	Missense	20/22	-
19-57640906-C-A	USP29	c.863C>A	p.P288H	Missense	4/4	-
10-98144417-G-C	TLL2	c.2121C>G	p.S707R	Missense	16/21	-
10-98144417-G-T	TLL2	c.2121C>A	p.S707R	Missense	16/21	-
10-98144419-T-G	TLL2	c.2119A>C	p.S707R	Missense	16/21	-
11-71277224-C-A	KRTAP5-10	c.591C>A	p.C197*	Nonsense	1/1	-
17-48227819-T-G	PPP1R9B	c.56A>C	p.H19P	Missense	1/12	-
7-135286147-GGA-TGT	NUP205	c.2404_2406delGGAinsTGT	p.G802C	Missense	17/43	-
12-49446742-C-G	KMT2D	c.1068G>C	p.Q356H	Missense	9/55	-
15-101529601-A-C	LRRK1	c.760A>C	p.T254P	Missense	6/34	-
8-8559981-A-C	CLDN23	c.73A>C	p.T25P	Missense	1/1	-
16-2246402-A-C	CASKIN1	c.32T>G	p.V11G	Missense	1/20	-
6-146755829-T-G	GRM1	c.3482T>G	p.V1161G	Missense	8/8	-
16-48278397-T-G	LONP2	c.98T>G	p.V33G	Missense	1/15	-
10-103868927-GG-TT	LDB1	c.863_864delCCinsAA	p.P288Q	Missense	10/11	-
8-19797025-T-G	LPL	c.74T>G	p.V25G	Missense	1/10	-
16-2240320-T-C	CASKIN1	c.134A>G	p.Q45R	Missense	2/20	-
15-101552237-G-T	LRRK1	c.1306G>T	p.A436S	Missense	10/34	-
15-51217377-C-A	AP4E1	c.503C>A	p.A168D	Missense	5/21	-
9-140484675-A-C	ZMYND19	c.41T>G	p.V14G	Missense	1/6	-
15-51217376-G-T	AP4E1	c.502G>T	p.A168S	Missense	5/21	-
3-48229403-C-T	CDC25A	c.35G>A	p.R12H	Missense	1/15	-
11-74953220-A-C	TPBGL	c.1126A>C	p.T376P	Missense	1/1	-
6-32609299-A-T	HLA-DQA1	c.295A>T	p.M99L	Missense	2/5	-
X-19380918-C-G	MAP3K15	c.3617G>C	p.R1206P	Missense	26/29	-
X-19380918-C-T	MAP3K15	c.3617G>A	p.R1206Q	Missense	26/29	-
13-32885816-G-T	ZAR1L	c.247C>A	p.L83M	Missense	3/6	-
16-30732041-C-A	SRCAP	c.2995C>A	p.Q999K	Missense	20/34	-
16-15812261-C-A	MYH11	c.5206G>T	p.A1736S	Missense	37/41	-
10-77158850-T-C	ZNF503	c.1598A>G	p.E533G	Missense	2/2	-
19-19135507-C-A	SUGP2	c.1650G>T	p.E550D	Missense	3/11	-
20-40980744-C-T	PTPRT	c.1742G>A	p.R581Q	Missense	10/31	-
20-42089681-C-G	SRSF6	c.1013C>G	p.S338C	Missense	6/6	-
20-61598080-G-T	SLC17A9	c.1143G>T	p.L381F	Missense	12/13	-
20-61598080-G-C	SLC17A9	c.1143G>C	p.L381F	Missense	12/13	-
X-48935368-G-T	WDR45	c.169C>A	p.L57M	Missense	4/11	-
X-105279267-G-T	SERPINA7	c.732C>A	p.Y244*	Nonsense	3/5	-
X-105279267-G-C	SERPINA7	c.732C>G	p.Y244*	Nonsense	3/5	-
10-77160007-GG-CT	ZNF503	c.440_441delCCinsAG	p.A147E	Missense	2/2	-
5-140750618-G-C	PCDHGB3	c.657G>C	p.E219D	Missense	1/4	-
5-140750618-G-T	PCDHGB3	c.657G>T	p.E219D	Missense	1/4	-
19-758144-AG-CC	MISP	c.1198_1199delAGinsCC	p.S400P	Missense	2/5	-
2-113941078-G-A	PSD4	c.1045G>A	p.G349R	Missense	2/17	-
2-113941078-G-C	PSD4	c.1045G>C	p.G349R	Missense	2/17	-
20-42088880-A-T	SRSF6	c.589A>T	p.R197W	Missense	4/6	-
11-84822710-A-G	DLG2	c.352T>C	p.C118R	Missense	6/28	-
1-16727323-G-A	SPATA21	c.1066C>T	p.R356W	Missense	11/13	-
12-27523133-G-C	ARNTL2	c.254G>C	p.R85T	Missense	3/17	-
14-93760562-G-C	BTBD7	c.804C>G	p.N268K	Missense	3/11	-
14-93760562-G-T	BTBD7	c.804C>A	p.N268K	Missense	3/11	-
14-105174186-C-A	INF2	c.1582C>A	p.P528T	Missense	8/23	-
4-141321567-G-A	CLGN	c.638C>T	p.P213L	Missense	7/15	-
14-105174222-G-A	INF2	c.1618G>A	p.A540T	Missense	8/23	-
3-186917661-G-A	RTP1	c.595G>A	p.V199M	Missense	2/2	-
2-166909422-C-G	SCN1A	c.634G>C	p.V212L	Missense	8/29	-
12-27553487-A-C	ARNTL2	c.940A>C	p.I314L	Missense	10/17	-
2-113940565-G-A	PSD4	c.532G>A	p.E178K	Missense	2/17	-
1-16748026-G-C	SPATA21	c.122C>G	p.A41G	Missense	5/13	-
14-105174291-C-T	INF2	c.1687C>T	p.R563C	Missense	8/23	-
X-53588802-C-G	HUWE1	c.7422G>C	p.M2474I	Missense	55/84	-
X-53588802-C-T	HUWE1	c.7422G>A	p.M2474I	Missense	55/84	-
X-53588802-C-A	HUWE1	c.7422G>T	p.M2474I	Missense	55/84	-
1-152732235-C-A	KPRP	c.171C>A	p.C57*	Nonsense	2/2	-
2-25384132-T-C	POMC	c.622A>G	p.S208G	Missense	3/3	-
X-76938004-CT-GG	ATRX	c.2743_2744delAGinsCC	p.S915P	Missense	9/35	-
X-119691848-T-G	CUL4B	c.603A>C	p.K201N	Missense	2/20	-
X-119691848-T-A	CUL4B	c.603A>T	p.K201N	Missense	2/20	-
1-57002637-G-A	PLPP3	c.287C>T	p.A96V	Missense	2/6	-
1-56962279-C-A	PLPP3	c.880G>T	p.E294*	Nonsense	6/6	-
5-151170576-A-G	G3BP1	c.304A>G	p.N102D	Missense	4/12	-
7-102113014-T-C	LRWD1	c.1648T>C	p.S550P	Missense	13/15	-
2-19553136-G-T	OSR1	c.431C>A	p.A144E	Missense	2/3	-
X-119694454-C-T	CUL4B	c.40G>A	p.A14T	Missense	1/20	-
7-148712025-A-C	PDIA4	c.585T>G	p.D195E	Missense	4/10	-
7-148712025-A-T	PDIA4	c.585T>A	p.D195E	Missense	4/10	-
2-189915366-C-A	COL5A2	c.2968G>T	p.G990W	Missense	43/54	-
3-37821406-C-T	ITGA9	c.2681C>T	p.P894L	Missense	25/28	-
3-37536057-G-A	ITGA9	c.610G>A	p.E204K	Missense	5/28	-
X-76907691-T-G	ATRX	c.4470A>C	p.R1490S	Missense	15/35	-
X-76907691-T-A	ATRX	c.4470A>T	p.R1490S	Missense	15/35	-
1-93303043-A-C	RPL5	c.558A>C	p.E186D	Missense	6/8	-
1-93303043-A-T	RPL5	c.558A>T	p.E186D	Missense	6/8	-
2-179665329-T-A	TTN	c.376A>T	p.R126*	Nonsense	4/363	-
X-105277572-TCT-ACA	SERPINA7	c.1165_1167delAGAinsTGT	p.R389C	Missense	5/5	-
5-140811735-C-A	PCDHGA12	c.1409C>A	p.S470Y	Missense	1/4	-
4-289233-G-A	ZNF732	c.220C>T	p.H74Y	Missense	3/4	-
12-15661692-C-A	PTPRO	c.1455C>A	p.Y485*	Nonsense	7/27	-
12-15661692-C-G	PTPRO	c.1455C>G	p.Y485*	Nonsense	7/27	-
7-48314083-G-T	ABCA13	c.4820G>T	p.S1607I	Missense	17/62	-
7-108205206-G-A	THAP5	c.617C>T	p.T206I	Missense	3/3	-
7-122342383-G-A	RNF148	c.422C>T	p.P141L	Missense	1/1	-
11-134028363-C-T	NCAPD3	c.3895G>A	p.V1299I	Missense	30/35	-
2-189940139-G-T	COL5A2	c.1084C>A	p.P362T	Missense	17/54	-
1-54354599-T-G	YIPF1	c.12A>C	p.V4=	Synonymous	3/11	-
1-54354599-T-C	YIPF1	c.12A>G	p.V4=	Synonymous	3/11	-
1-54354599-T-A	YIPF1	c.12A>T	p.V4=	Synonymous	3/11	-
X-49856827-A-T	CLCN5	c.2402A>T	p.H801L	Missense	15/15	-
1-26497148-C-A	ZNF593	c.346C>A	p.R116=	Synonymous	3/3	-
8-1998984-A-G	MYOM2	c.104A>G	p.K35R	Missense	2/37	-
2-166909365-G-A	SCN1A	c.691C>T	p.P231S	Missense	8/29	-
19-57088374-T-A	ZNF470	c.577T>A	p.F193I	Missense	6/6	-
2-44222999-C-A	LRPPRC	c.88G>T	p.G30C	Missense	1/38	-
11-420787-C-A	ANO9	c.1564G>T	p.D522Y	Missense	18/23	-
20-4764957-T-A	RASSF2	c.943A>T	p.R315W	Missense	12/12	-
20-31611181-C-A	BPIFB2	c.1369C>A	p.Q457K	Missense	16/16	-
22-20779727-G-C	SCARF2	c.2536C>G	p.P844A	Missense	14/14	-
10-29821561-C-T	SVIL	c.1735G>A	p.E579K	Missense	8/38	-
X-10174772-G-A	CLCN4	c.799G>A	p.A267T	Missense	8/13	-
8-145550122-C-G	DGAT1	c.178G>C	p.G60R	Missense	1/17	-
19-15508338-CAG-AAA	AKAP8L	c.1396_1398delCTGinsTTT	p.L466F	Missense	11/14	-
8-144654208-C-T	MROH6	c.442G>A	p.D148N	Missense	2/14	-
1-1551905-G-C	MIB2	c.192G>C	p.E7D	Missense	2/20	-
1-1551905-G-T	MIB2	c.21G>T	p.E7D	Missense	2/20	-
1-11594490-G-A	DISP3	c.3428G>A	p.W1143*	Nonsense	18/21	-
1-11594491-G-A	DISP3	c.3429G>A	p.W1143*	Nonsense	18/21	-
8-144297228-C-G	GPIHBP1	c.390C>G	p.C130W	Missense	4/4	-
1-207881553-A-C	CR1L	c.1359A>C	p.E453D	Missense	10/12	-
2-216198177-A-G	ATIC	c.919A>G	p.R307G	Missense	9/16	-
1-27676249-C-T	SYTL1	c.740C>T	p.S247F	Missense	8/15	-
1-44019547-A-C	PTPRF	c.314A>C	p.Y105S	Missense	5/34	-
8-2048794-G-C	MYOM2	c.2569G>C	p.G857R	Missense	20/37	-
8-94935410-C-T	PDP1	c.1123C>T	p.Q375*	Nonsense	2/2	-
1-158532460-G-T	OR6P1	c.935C>A	p.P312H	Missense	3/3	-
X-77244083-A-T	ATP7A	c.466A>T	p.K156*	Nonsense	3/23	-
8-59514051-C-T	NSMAF	c.1169G>A	p.S390N	Missense	15/31	-
1-167870949-C-A	ADCY10	c.387G>T	p.L129F	Missense	5/33	-
1-167870949-C-G	ADCY10	c.387G>C	p.L129F	Missense	5/33	-
1-173456886-G-A	PRDX6	c.559G>A	p.V187M	Missense	5/5	-
8-22423361-C-T	SORBS3	c.926C>T	p.A309V	Missense	12/21	-
1-207850821-A-C	CR1L	c.185A>C	p.N62T	Missense	2/12	-
2-45872-C-G	FAM110C	c.514G>C	p.A172P	Missense	1/2	-
8-23054653-G-A	TNFRSF10A	c.1079C>T	p.P360L	Missense	9/10	-
1-207881553-A-T	CR1L	c.1359A>T	p.E453D	Missense	10/12	-
8-22412409-C-A	SORBS3	c.136C>A	p.L46I	Missense	3/21	-
2-55195311-A-G	EML6	c.5645A>G	p.K1882R	Missense	39/41	-
2-67631613-G-A	ETAA1	c.1799G>A	p.W600*	Nonsense	5/6	-
2-67631614-G-A	ETAA1	c.1800G>A	p.W600*	Nonsense	5/6	-
2-98872625-A-T	VWA3B	c.2831A>T	p.E944V	Missense	21/28	-
5-139740408-T-C	SLC4A9	c.242T>C	p.F81S	Missense	2/22	-
2-135095937-A-T	MGAT5	c.753A>T	p.Q251H	Missense	6/16	-
2-135095937-A-C	MGAT5	c.753A>C	p.Q251H	Missense	6/16	-
2-135012093-CT-AA	MGAT5	c.119_120delCTinsAA	p.P40Q	Missense	1/16	-
1-11589960-G-C	DISP3	c.3046G>C	p.G1016R	Missense	15/21	-
6-83937112-AA-CT	ME1	c.1216_1217delTTinsAG	p.L406R	Missense	11/14	-
3-9422201-G-T	THUMPD3	c.1023G>T	p.W341C	Missense	7/10	-
3-9422201-G-C	THUMPD3	c.1023G>C	p.W341C	Missense	7/10	-
4-48493268-C-G	ZAR1	c.960C>G	p.F320L	Missense	1/4	-
6-96973200-G-A	UFL1	c.280G>A	p.E94K	Missense	4/19	-
3-13407538-C-A	NUP210	c.1840G>T	p.A614S	Missense	14/40	-
6-131276356-C-A	EPB41L2	c.594G>T	p.Q198H	Missense	3/20	-
6-131276356-C-G	EPB41L2	c.594G>C	p.Q198H	Missense	3/20	-
3-50415484-C-G	CACNA2D2	c.1434G>C	p.K478N	Missense	15/38	-
3-50415484-C-A	CACNA2D2	c.1434G>T	p.K478N	Missense	15/38	-
3-119456249-A-T	CFAP91	c.1381A>T	p.K461*	Nonsense	11/18	-
6-131276327-G-A	EPB41L2	c.623C>T	p.S208F	Missense	3/20	-
2-55191275-T-C	EML6	c.5311T>C	p.S1771P	Missense	36/41	-
6-97000465-C-A	UFL1	c.2093C>A	p.T698N	Missense	18/19	-
4-15060085-G-T	CPEB2	c.2502G>T	p.Q834H	Missense	9/12	-
4-15060085-G-C	CPEB2	c.2502G>C	p.Q834H	Missense	9/12	-
4-48493266-T-C	ZAR1	c.958T>C	p.F320L	Missense	1/4	-
4-48493268-C-A	ZAR1	c.960C>A	p.F320L	Missense	1/4	-
4-70361497-A-T	UGT2B4	c.83T>A	p.V28E	Missense	1/6	-
5-71491922-C-A	MAP1B	c.2740C>A	p.P914T	Missense	5/7	-
5-82816735-T-G	VCAN	c.2610T>G	p.D870E	Missense	7/15	-
5-82816735-T-A	VCAN	c.2610T>A	p.D870E	Missense	7/15	-
5-82836915-A-T	VCAN	c.8093A>T	p.K2698M	Missense	8/15	-
5-88025088-G-A	MEF2C	c.911C>T	p.P304L	Missense	9/11	-
5-82815464-C-T	VCAN	c.1339C>T	p.L447F	Missense	7/15	-
5-134074461-C-A	CAMLG	c.151C>A	p.H51N	Missense	1/4	-
17-67017987-A-T	ABCA9	c.2297T>A	p.L766H	Missense	18/39	-
5-135510115-G-C	SMAD5	c.1048G>C	p.D350H	Missense	7/9	-
5-138773124-G-C	DNAJC18	c.164C>G	p.T55S	Missense	2/8	-
5-138773125-T-A	DNAJC18	c.163A>T	p.T55S	Missense	2/8	-
5-139743655-T-G	SLC4A9	c.1271T>G	p.F424C	Missense	10/22	-
3-183211907-T-G	KLHL6	c.1310A>C	p.N437T	Missense	5/7	-
17-67083592-C-A	ABCA6	c.3721G>T	p.A1241S	Missense	29/39	-
5-178050326-C-T	CLK4	c.92G>A	p.R31K	Missense	2/13	-
5-138760760-A-T	DNAJC18	c.603T>A	p.Y201*	Nonsense	5/8	-
5-138760760-A-C	DNAJC18	c.603T>G	p.Y201*	Nonsense	5/8	-
6-17796985-C-G	KIF13A	c.2857G>C	p.V953L	Missense	23/39	-
6-17796985-C-A	KIF13A	c.2857G>T	p.V953L	Missense	23/39	-
6-29323782-C-T	OR5V1	c.191G>A	p.G64E	Missense	2/2	-
3-129275473-C-T	PLXND1	c.5648G>A	p.R1883K	Missense	35/36	-
6-87964615-C-G	ZNF292	c.1268C>G	p.P423R	Missense	8/8	-
17-39643229-C-T	KRT36	c.1181G>A	p.R394H	Missense	6/7	-
19-32927456-A-T	DPY19L3	c.433A>T	p.R145*	Nonsense	5/19	-
19-15491000-C-G	AKAP8L	c.1874G>C	p.R625P	Missense	14/14	-
18-67860643-T-G	RTTN	c.888A>C	p.R296S	Missense	8/49	-
18-67860643-T-A	RTTN	c.888A>T	p.R296S	Missense	8/49	-
19-41003419-A-T	SPTBN4	c.692A>T	p.K231I	Missense	7/36	-
18-67755380-T-A	RTTN	c.4147A>T	p.R1383*	Nonsense	31/49	-
3-129277412-A-G	PLXND1	c.5304T>C	p.P1768=	Synonymous	33/36	-
13-111371632-G-A	ING1	c.193G>A	p.A65T	Missense	2/2	-
11-5068015-T-C	OR52J3	c.260T>C	p.F87S	Missense	1/1	-
11-84996295-G-A	DLG2	c.155C>T	p.P52L	Missense	4/28	-
11-83676442-C-G	DLG2	c.1126G>C	p.V376L	Missense	13/28	-
11-83676442-C-A	DLG2	c.1126G>T	p.V376L	Missense	13/28	-
3-135721070-A-G	PPP2R3A	c.730A>G	p.K244E	Missense	2/14	-
17-27296825-T-C	SEZ6	c.1004A>G	p.Q335R	Missense	4/17	-
12-15679170-C-A	PTPRO	c.2138C>A	p.T713N	Missense	12/27	-
12-39763625-T-C	KIF21A	c.356A>G	p.K119R	Missense	3/38	-
14-93709217-T-C	BTBD7	c.2801A>G	p.D934G	Missense	11/11	-
7-102110319-C-A	LRWD1	c.1432C>A	p.Q478K	Missense	11/15	-
17-7662305-GTA-TTT	DNAH2	c.2311_2313delGTAinsTTT	p.V771F	Missense	15/86	-
4-40124765-A-T	N4BP2	c.4217A>T	p.D1406V	Missense	10/18	-
17-36891527-G-C	PCGF2	c.984C>G	p.S328R	Missense	11/11	-
17-36891527-G-T	PCGF2	c.984C>A	p.S328R	Missense	11/11	-
17-36891529-T-G	PCGF2	c.982A>C	p.S328R	Missense	11/11	-
4-40103733-A-G	N4BP2	c.268A>G	p.T90A	Missense	4/18	-
17-37844147-A-T	PGAP3	c.121T>A	p.C41S	Missense	1/8	-
17-37844146-C-G	PGAP3	c.122G>C	p.C41S	Missense	1/8	-
17-61561873-C-T	ACE	c.1892C>T	p.P631L	Missense	12/25	-
7-21946000-CCG-ACA	CDCA7L	c.826_828delCGGinsTGT	p.R276C	Missense	6/10	-
6-138745344-CAG-GAT	NHSL1	c.4693_4695delCTGinsATC	p.L1565I	Missense	8/8	-
5-149585175-T-C	SLC6A7	c.1690T>C	p.S564P	Missense	13/14	-
6-109311971-A-G	SESN1	c.1301T>C	p.I434T	Missense	8/10	-
19-757229-T-C	MISP	c.283T>C	p.Y95H	Missense	2/5	-
5-149574451-A-G	SLC6A7	c.194A>G	p.Y65C	Missense	2/14	-
19-761643-TCG-ATC	MISP	c.1930_1932delTCGinsATC	p.S644I	Missense	4/5	-
6-152755025-C-A	SYNE1	c.4366G>T	p.E1456*	Nonsense	34/146	-
19-39915663-G-A	PLEKHG2	c.3890G>A	p.G1297E	Missense	19/19	-
6-109319809-TCT-ACA	SESN1	c.877_879delAGAinsTGT	p.R293C	Missense	5/10	-
15-75498721-A-T	C15orf39	c.332A>T	p.E111V	Missense	2/3	-
19-53015258-A-G	ZNF578	c.1624A>G	p.K542E	Missense	6/6	-
19-53553255-C-A	ERVV-2	c.751C>A	p.P251T	Missense	2/2	-
8-11163765-C-A	MTMR9	c.658C>A	p.L220M	Missense	5/10	-
18-3188907-C-A	MYOM1	c.610G>T	p.A204S	Missense	4/38	-
8-21977374-A-G	HR	c.2876T>C	p.L959P	Missense	14/19	-
8-65537073-A-G	CYP7B1	c.146T>C	p.I49T	Missense	2/6	-
20-57768766-G-A	ZNF831	c.2692G>A	p.G898R	Missense	2/6	-
20-57768766-G-C	ZNF831	c.2692G>C	p.G898R	Missense	2/6	-
8-134292503-G-A	NDRG1	c.71C>T	p.T24I	Missense	3/16	-
19-39905767-G-A	PLEKHG2	c.245G>A	p.G82E	Missense	3/19	-
8-145665566-C-T	TONSL	c.1318G>A	p.V440M	Missense	11/26	-
22-27003910-G-C	CRYBB1	c.375C>G	p.N125K	Missense	4/6	-
22-27003910-G-T	CRYBB1	c.375C>A	p.N125K	Missense	4/6	-
8-21986464-G-T	HR	c.220C>A	p.P74T	Missense	2/19	-
22-27021490-T-G	CRYBA4	c.204T>G	p.I68M	Missense	4/6	-
10-105179299-T-C	PDCD11	c.2111T>C	p.L704P	Missense	16/36	-
X-54785310-C-G	ITIH6	c.1197G>C	p.E399D	Missense	8/13	-
X-54785310-C-A	ITIH6	c.1197G>T	p.E399D	Missense	8/13	-
X-69500097-G-T	ARR3	c.958G>T	p.V320F	Missense	13/17	-
1-248569372-T-C	OR2T1	c.77T>C	p.V26A	Missense	1/1	-
7-21947906-C-T	CDCA7L	c.523G>A	p.E175K	Missense	4/10	-
X-76829757-C-G	ATRX	c.6284G>C	p.R2095T	Missense	28/35	-
2-24964714-G-A	NCOA1	c.3365G>A	p.R1122Q	Missense	19/23	-
11-14810740-G-A	PDE3B	c.1367G>A	p.W456*	Nonsense	4/16	-
11-14810741-G-A	PDE3B	c.1368G>A	p.W456*	Nonsense	4/16	-
X-118533404-G-T	SLC25A43	c.38G>T	p.G13V	Missense	1/5	-
11-48285496-G-C	OR4X1	c.84G>C	p.M28I	Missense	1/1	-
11-48285496-G-A	OR4X1	c.84G>A	p.M28I	Missense	1/1	-
X-134494172-A-T	ZNF449	c.728A>T	p.E243V	Missense	5/5	-
11-55798803-G-C	OR5AS1	c.909G>C	p.K303N	Missense	2/2	-
11-55798803-G-T	OR5AS1	c.909G>T	p.K303N	Missense	2/2	-
1-27240014-G-T	NR0B2	c.418C>A	p.Q140K	Missense	1/2	-
11-76872083-CC-AA	MYO7A	c.1265_1266delCCinsAA	p.P422Q	Missense	12/49	-
11-76867014-C-A	MYO7A	c.347C>A	p.P116Q	Missense	5/49	-
3-108147682-G-C	MYH15	c.3419C>G	p.T1140S	Missense	28/42	-
3-108147683-T-A	MYH15	c.3418A>T	p.T1140S	Missense	28/42	-
11-10582224-G-A	LYVE1	c.521C>T	p.P174L	Missense	4/6	-
1-157667544-G-T	FCRL3	c.464C>A	p.S155Y	Missense	5/15	-
12-9305863-A-G	PZP	c.3851T>C	p.V1284A	Missense	30/36	-
1-27240013-T-G	NR0B2	c.419A>C	p.Q140P	Missense	1/2	-
X-76937393-C-A	ATRX	c.3355G>T	p.E1119*	Nonsense	9/35	-
1-166926047-C-T	ILDR2	c.422G>A	p.G141E	Missense	3/10	-
1-16531377-C-T	ARHGEF19	c.1784G>A	p.R595Q	Missense	12/16	-
12-64828630-G-A	XPOT	c.2626G>A	p.A876T	Missense	21/25	-
12-69145822-C-A	SLC35E3	c.524C>A	p.A175D	Missense	3/5	-
1-166905869-C-G	ILDR2	c.662G>C	p.R221P	Missense	5/10	-
13-115089394-A-G	CHAMP1	c.77A>G	p.Y26C	Missense	3/3	-
1-185984320-A-G	HMCN1	c.4660A>G	p.T1554A	Missense	31/107	-
12-9353649-C-T	PZP	c.509G>A	p.R170K	Missense	6/36	-
15-40915688-A-G	KNL1	c.3226A>G	p.I1076V	Missense	10/26	-
15-75503206-G-C	C15orf39	c.2893G>C	p.G965R	Missense	3/3	-
1-245530205-G-T	KIF26B	c.535G>T	p.D179Y	Missense	3/15	-
16-3778969-G-A	CREBBP	c.6079C>T	p.P2027S	Missense	31/31	-
16-71571104-T-A	CHST4	c.524T>A	p.V175E	Missense	2/2	-
19-15280935-A-T	NOTCH3	c.5161T>A	p.W1721R	Missense	28/33	-
19-15280935-A-G	NOTCH3	c.5161T>C	p.W1721R	Missense	28/33	-
17-650090-G-A	GEMIN4	c.1193C>T	p.A398V	Missense	2/2	-
1-157667095-A-T	FCRL3	c.679T>A	p.S227T	Missense	6/15	-
X-39933978-GA-TT	BCOR	c.620_621delTCinsAA	p.L207Q	Missense	4/15	-
X-139586769-G-A	SOX3	c.457C>T	p.Q153*	Nonsense	1/1	-
2-32756550-G-T	BIRC6	c.12223G>T	p.A4075S	Missense	61/74	-
3-57132485-G-T	IL17RD	c.1246C>A	p.Q416K	Missense	12/13	-
3-118647371-C-T	IGSF11	c.409G>A	p.G137S	Missense	3/7	-
5-79054609-C-A	CMYA5	c.11144C>A	p.P3715Q	Missense	7/13	-
19-20807992-A-T	ZNF626	c.691T>A	p.C231S	Missense	4/4	-
19-20807991-C-G	ZNF626	c.692G>C	p.C231S	Missense	4/4	-
9-135205804-T-C	SETX	c.1181A>G	p.Q394R	Missense	10/26	-
22-38122477-C-T	TRIOBP	c.3914C>T	p.A1305V	Missense	7/24	-
1-169672407-G-T	SELL	c.980C>A	p.P314Q	Missense	6/9	-
7-100679103-A-G	MUC17	c.4406A>G	p.N1469S	Missense	3/13	-
6-166952240-G-C	RPS6KA2	c.132C>G	p.S44R	Missense	2/21	-
6-166952240-G-T	RPS6KA2	c.132C>A	p.S44R	Missense	2/21	-
6-166952242-T-G	RPS6KA2	c.130A>C	p.S44R	Missense	2/21	-
7-100349584-C-T	ZAN	c.1856C>T	p.P619L	Missense	14/49	-
19-47884123-T-A	DHX34	c.3033T>A	p.Y1011*	Nonsense	15/17	-
19-47884123-T-G	DHX34	c.3033T>G	p.Y1011*	Nonsense	15/17	-
7-100350117-T-C	ZAN	c.2389T>C	p.S797P	Missense	14/49	-
7-100350159-T-C	ZAN	c.2431T>C	p.S811P	Missense	14/49	-
6-99374782-C-A	FBXL4	c.83G>T	p.R28I	Missense	4/10	-
3-195507338-A-C	MUC4	c.11113T>G	p.S3705A	Missense	2/25	-
7-63538582-T-G	ZNF727	c.1155T>G	p.N385K	Missense	4/4	-
7-63538582-T-A	ZNF727	c.1155T>A	p.N385K	Missense	4/4	-
9-135176095-C-A	SETX	c.5470G>T	p.D1824Y	Missense	12/26	-
7-100681018-A-G	MUC17	c.6321A>G	p.I2107M	Missense	3/13	-
9-125273711-T-C	OR1J2	c.631T>C	p.F211L	Missense	1/1	-
9-125273713-C-A	OR1J2	c.633C>A	p.F211L	Missense	1/1	-
9-125273713-C-G	OR1J2	c.633C>G	p.F211L	Missense	1/1	-
10-73047448-C-A	UNC5B	c.827C>A	p.P276H	Missense	6/17	-
5-79025769-CA-TG	CMYA5	c.1181_1182delCAinsTG	p.T394M	Missense	2/13	-
X-139587214-A-T	SOX3	c.12T>A	p.V4=	Synonymous	1/1	-
X-139587214-A-G	SOX3	c.12T>C	p.V4=	Synonymous	1/1	-
X-139587214-A-C	SOX3	c.12T>G	p.V4=	Synonymous	1/1	-
19-44116536-C-A	SRRM5	c.263C>A	p.A88E	Missense	1/1	-
12-7947093-G-T	NANOG	c.455G>T	p.R152M	Missense	3/4	-
12-64811884-C-A	XPOT	c.259C>A	p.L87M	Missense	5/25	-
9-125273362-T-A	OR1J2	c.282T>A	p.Y94*	Nonsense	1/1	-
9-125273362-T-G	OR1J2	c.282T>G	p.Y94*	Nonsense	1/1	-
12-7048145-G-A	ATN1	c.3019G>A	p.A1007T	Missense	7/10	-
12-7945679-A-C	NANOG	c.285A>C	p.K95N	Missense	2/4	-
12-7945679-A-T	NANOG	c.285A>T	p.K95N	Missense	2/4	-
20-44180693-C-T	WFDC8	c.698G>A	p.G233E	Missense	6/6	-
X-152770309-G-C	BGN	c.220G>C	p.V74L	Missense	2/8	-
3-147113963-G-T	ZIC4	c.364C>A	p.Q122K	Missense	3/5	-
17-39394773-C-T	KRTAP9-8	c.470C>T	p.S157F	Missense	1/1	-
19-46997105-T-G	PNMA8B	c.1618A>C	p.T540P	Missense	1/1	-
17-39346325-AG-CA	KRTAP9-1	c.187_188delAGinsCA	p.R63Q	Missense	1/1	-
18-61324625-G-T	SERPINB3	c.491C>A	p.P164H	Missense	6/8	-
18-61324626-G-T	SERPINB3	c.490C>A	p.P164T	Missense	6/8	-
17-65941776-G-A	BPTF	c.6952G>A	p.A2318T	Missense	21/28	-
19-9091597-C-A	MUC16	c.218G>T	p.G73V	Missense	1/84	-
19-14562724-G-T	PKN1	c.1054G>T	p.G352W	Missense	7/22	-
17-18098328-G-T	ALKBH5	c.830G>T	p.R277L	Missense	2/4	-
19-47870403-G-A	DHX34	c.1759G>A	p.V587I	Missense	7/17	-
17-4841079-T-A	SLC25A11	c.902A>T	p.E301V	Missense	8/8	-
19-49447700-C-A	DHDH	c.831C>A	p.C277*	Nonsense	6/7	-
15-75968615-C-T	CSPG4	c.6245G>A	p.R2082H	Missense	10/10	-
19-14574699-C-G	PKN1	c.1555C>G	p.L519V	Missense	11/22	-
7-100675813-T-G	MUC17	c.1116T>G	p.S372R	Missense	3/13	-
7-100675813-T-A	MUC17	c.1116T>A	p.S372R	Missense	3/13	-
7-100675811-A-C	MUC17	c.1114A>C	p.S372R	Missense	3/13	-
19-47856524-G-C	DHX34	c.237G>C	p.E79D	Missense	2/17	-
19-47856524-G-T	DHX34	c.237G>T	p.E79D	Missense	2/17	-
5-79025204-G-T	CMYA5	c.616G>T	p.G206W	Missense	2/13	-
3-128890510-T-C	CNBP	c.91A>G	p.S31G	Missense	2/5	-
22-50659471-A-G	TUBGCP6	c.3317T>C	p.I1106T	Missense	16/25	-
8-144378659-C-A	ZNF696	c.814C>A	p.Q272K	Missense	3/3	-
12-64821847-T-A	XPOT	c.1684T>A	p.F562I	Missense	16/25	-
21-46935606-A-G	SLC19A1	c.1742T>C	p.L581P	Missense	6/6	-
12-8990121-C-T	A2ML1	c.814C>T	p.R272W	Missense	8/36	-
2-9437449-C-A	ASAP2	c.220C>A	p.Q74K	Missense	3/28	-
11-62293806-A-G	AHNAK	c.8083T>C	p.F2695L	Missense	5/5	-
11-62293804-G-T	AHNAK	c.8085C>A	p.F2695L	Missense	5/5	-
11-62293804-G-C	AHNAK	c.8085C>G	p.F2695L	Missense	5/5	-
2-163228488-T-A	KCNH7	c.3442A>T	p.S1148C	Missense	16/16	-
17-74729163-G-A	METTL23	c.188G>A	p.R63Q	Missense	3/5	-
17-74729163-G-C	METTL23	c.188G>C	p.R63P	Missense	3/5	-
18-2698010-C-T	SMCHD1	c.1313C>T	p.T438I	Missense	10/48	-
19-758250-A-G	MISP	c.1304A>G	p.Q435R	Missense	2/5	-
19-19135507-C-G	SUGP2	c.1650G>C	p.E550D	Missense	3/11	-
19-6734035-G-A	GPR108	c.530C>T	p.S177L	Missense	6/18	-
19-49232380-CG-AT	RASIP1	c.1646_1647delCGinsAT	p.P549H	Missense	5/12	-
2-24080343-A-T	ATAD2B	c.1510T>A	p.F504I	Missense	13/28	-
2-69757813-G-C	AAK1	c.682C>G	p.P228A	Missense	7/22	-
19-49242326-CAC-GAT	RASIP1	c.712_714delGTGinsATC	p.V238I	Missense	3/12	-
13-20716788-A-T	GJA3	c.640T>A	p.S214T	Missense	2/2	-
1-160851871-C-A	ITLN1	c.281G>T	p.C94F	Missense	4/8	-
20-3171444-T-A	DDRGK1	c.800A>T	p.K267M	Missense	9/9	-
3-194373730-C-A	LSG1	c.901G>T	p.D301Y	Missense	8/14	-
19-50881616-G-A	NR1H2	c.392G>A	p.C131Y	Missense	5/10	-
17-8526497-T-C	MYH10	c.68A>G	p.N23S	Missense	2/43	-
12-52913944-A-G	KRT5	c.137T>C	p.F46S	Missense	1/9	-
12-122064699-C-G	ORAI1	c.52C>G	p.P18A	Missense	1/2	-
X-92927191-C-G	NAP1L3	c.1113G>C	p.E371D	Missense	1/1	-
X-92927191-C-A	NAP1L3	c.1113G>T	p.E371D	Missense	1/1	-
1-152732609-G-T	KPRP	c.545G>T	p.C182F	Missense	2/2	-
15-23811125-C-A	MKRN3	c.196C>A	p.H66N	Missense	1/1	-
5-140751149-A-T	PCDHGB3	c.1188A>T	p.Q396H	Missense	1/4	-
5-140751149-A-C	PCDHGB3	c.1188A>C	p.Q396H	Missense	1/4	-
1-183201815-G-T	LAMC2	c.2043G>T	p.L681F	Missense	14/23	-
1-183201815-G-C	LAMC2	c.2043G>C	p.L681F	Missense	14/23	-
X-103268139-G-T	H2BW1	c.94C>A	p.P32T	Missense	1/3	-
16-75276720-G-A	BCAR1	c.281C>T	p.P94L	Missense	2/7	-
9-6540095-G-T	GLDC	c.2621C>A	p.A874E	Missense	22/25	-
13-20717116-C-G	GJA3	c.312G>C	p.E104D	Missense	2/2	-
13-20717116-C-A	GJA3	c.312G>T	p.E104D	Missense	2/2	-
2-96810979-A-G	DUSP2	c.115T>C	p.C39R	Missense	1/4	-
3-112190138-A-T	BTLA	c.468T>A	p.Y156*	Nonsense	3/5	-
3-112190138-A-C	BTLA	c.468T>G	p.Y156*	Nonsense	3/5	-
3-33087706-G-A	GLB1	c.974C>T	p.A325V	Missense	10/16	-
3-195953905-T-G	SLC51A	c.203T>G	p.F68C	Missense	3/9	-
4-73185579-G-T	ADAMTS3	c.1204C>A	p.H402N	Missense	8/22	-
13-20716502-C-A	GJA3	c.926G>T	p.G309V	Missense	2/2	-
12-133778943-C-G	ZNF268	c.671C>G	p.P224R	Missense	6/6	-
6-152712570-G-A	SYNE1	c.7846C>T	p.L2616F	Missense	52/146	-
9-113275294-TCG-ACA	SVEP1	c.1213_1215delCGAinsTGT	p.R405C	Missense	5/48	-
19-3595714-T-C	TBXA2R	c.1004A>G	p.Q335R	Missense	3/3	-
4-40440862-C-T	RBM47	c.49G>A	p.G17R	Missense	4/7	-
4-40440862-C-G	RBM47	c.49G>C	p.G17R	Missense	4/7	-
4-122254153-C-A	QRFPR	c.620G>T	p.S207I	Missense	4/6	-
8-139833423-T-A	COL22A1	c.1201A>T	p.K401*	Nonsense	7/65	-
5-178553126-G-T	ADAMTS2	c.2623C>A	p.Q875K	Missense	18/22	-
9-35906386-C-A	HRCT1	c.102C>A	p.H34Q	Missense	1/1	-
9-35906386-C-G	HRCT1	c.102C>G	p.H34Q	Missense	1/1	-
19-58441831-A-C	ZNF418	c.98T>G	p.V33G	Missense	3/6	-
8-121471480-A-T	MTBP	c.773A>T	p.E258V	Missense	8/22	-
8-139767754-C-G	COL22A1	c.1948G>C	p.V650L	Missense	20/65	-
8-139767754-C-A	COL22A1	c.1948G>T	p.V650L	Missense	20/65	-
11-102647463-G-T	MMP10	c.667C>A	p.L223M	Missense	5/10	-
6-132892182-C-A	TAAR6	c.722C>A	p.S241Y	Missense	1/1	-
14-103999141-C-A	TRMT61A	c.554C>A	p.P185H	Missense	3/4	-
16-72829678-A-T	ZFHX3	c.6903T>A	p.Y2301*	Nonsense	9/10	-
16-72829678-A-C	ZFHX3	c.6903T>G	p.Y2301*	Nonsense	9/10	-
17-10399572-G-T	MYH1	c.4951C>A	p.Q1651K	Missense	34/40	-
11-46898767-C-G	LRP4	c.3260G>C	p.G1087A	Missense	23/38	-
11-62996989-C-G	SLC22A25	c.136G>C	p.D46H	Missense	1/9	-
19-47549886-A-T	TMEM160	c.266T>A	p.F89Y	Missense	2/3	-
5-178416343-T-G	GRM6	c.1076A>C	p.E359A	Missense	6/11	-
11-102650048-GA-TT	MMP10	c.391_392delTCinsAA	p.S131N	Missense	3/10	-
14-105409030-A-T	AHNAK2	c.12758T>A	p.M4253K	Missense	7/7	-
9-113137680-G-A	SVEP1	c.10568C>T	p.P3523L	Missense	46/48	-
19-58438201-C-A	ZNF418	c.1348G>T	p.G450*	Nonsense	4/6	-
7-100678122-CT-AA	MUC17	c.3425_3426delCTinsAA	p.P1142Q	Missense	3/13	-
16-72992967-G-T	ZFHX3	c.1078C>A	p.P360T	Missense	2/10	-
12-53343115-G-A	KRT18	c.158G>A	p.S53N	Missense	1/7	-
16-15788067-G-A	NDE1	c.749G>A	p.R250Q	Missense	7/9	-
13-61083983-C-G	TDRD3	c.945C>G	p.N315K	Missense	9/14	-
13-61083983-C-A	TDRD3	c.945C>A	p.N315K	Missense	9/14	-
19-49232381-G-A	RASIP1	c.1646C>T	p.P549L	Missense	5/12	-
12-52910971-G-A	KRT5	c.1138C>T	p.R380C	Missense	6/9	-
X-106186103-T-A	MORC4	c.2018A>T	p.E673V	Missense	15/17	-
X-79973249-C-T	BRWD3	c.2054G>A	p.S685N	Missense	19/41	-
4-85781599-T-G	WDFY3	c.146A>C	p.E49A	Missense	4/68	-
17-38146021-C-T	PSMD3	c.716C>T	p.T239M	Missense	5/12	-
7-150878052-G-C	ASB10	c.1078C>G	p.R360G	Missense	3/6	-
15-64791689-G-T	ZNF609	c.71G>T	p.G24V	Missense	2/10	-
11-55406705-A-T	OR4P4	c.872A>T	p.E291V	Missense	1/1	-
22-38696804-G-T	CSNK1E	c.490C>A	p.H164N	Missense	5/11	-
16-9057070-T-G	USP7	c.73A>C	p.M25L	Missense	1/31	-
16-9057070-T-A	USP7	c.73A>T	p.M25L	Missense	1/31	-
17-4445814-C-T	MYBBP1A	c.3032G>A	p.S1011N	Missense	22/26	-
13-42142367-T-A	VWA8	c.5684A>T	p.Q1895L	Missense	45/45	-
17-5086705-C-A	ZNF594	c.847G>T	p.V283F	Missense	2/2	-
15-84651612-A-G	ADAMTSL3	c.3232A>G	p.K1078E	Missense	21/30	-
17-8215391-C-A	ARHGEF15	c.34C>A	p.P12T	Missense	2/16	-
16-9010992-C-A	USP7	c.742G>T	p.E248*	Nonsense	7/31	-
15-52338808-A-G	MAPK6	c.151A>G	p.I51V	Missense	2/6	-
11-62301167-T-G	AHNAK	c.722A>C	p.H241P	Missense	5/5	-
13-38172784-T-C	POSTN	c.80A>G	p.K27R	Missense	1/23	-
16-4519402-CAC-GAT	NMRAL1	c.103_105delGTGinsATC	p.V35I	Missense	3/6	-
12-123699296-C-T	MPHOSPH9	c.1082G>A	p.G361E	Missense	7/24	-
11-62294761-C-G	AHNAK	c.7128G>C	p.M2376I	Missense	5/5	-
11-62294761-C-T	AHNAK	c.7128G>A	p.M2376I	Missense	5/5	-
11-62294761-C-A	AHNAK	c.7128G>T	p.M2376I	Missense	5/5	-
14-23312985-C-T	MMP14	c.917C>T	p.P306L	Missense	6/10	-
11-65547060-C-T	AP5B1	c.904G>A	p.G302R	Missense	2/2	-
15-83680253-G-T	C15orf40	c.107C>A	p.T36N	Missense	1/4	-
11-62303515-C-A	AHNAK	c.56G>T	p.G19V	Missense	3/5	-
14-21623222-C-A	OR5AU1	c.963G>T	p.Q270H	Missense	1/1	-
14-21623222-C-G	OR5AU1	c.810G>C	p.Q270H	Missense	1/1	-
11-86518830-G-A	PRSS23	c.145G>A	p.A49T	Missense	2/2	-
14-23945567-G-C	NGDN	c.664G>C	p.D222H	Missense	8/11	-
15-75942891-C-A	SNX33	c.1448C>A	p.P483H	Missense	1/2	-
17-66417934-C-G	WIPI1	c.1321G>C	p.G441R	Missense	13/13	-
X-30872593-G-C	TAB3	c.1189C>G	p.H397D	Missense	6/11	-
17-79899263-G-C	MYADML2	c.355C>G	p.P119A	Missense	3/3	-
15-64972953-G-T	ZNF609	c.4054G>T	p.D1352Y	Missense	8/10	-
17-79899265-T-C	MYADML2	c.353A>G	p.E118G	Missense	3/3	-
12-6220086-T-A	VWF	c.269A>T	p.E90V	Missense	4/52	-
16-47488051-TAT-AAA	ITFG1	c.298_300delATAinsTTT	p.I100F	Missense	3/18	-
13-115047524-T-G	UPF3A	c.236T>G	p.L79R	Missense	2/10	-
15-58471489-G-C	AQP9	c.658G>C	p.D220H	Missense	5/6	-
18-34387828-A-T	TPGS2	c.235T>A	p.W79R	Missense	3/7	-
18-34387828-A-G	TPGS2	c.235T>C	p.W79R	Missense	3/7	-
12-132281859-A-T	SFSWAP	c.2671A>T	p.S891C	Missense	16/18	-
19-2247919-G-A	SF3A2	c.769G>A	p.G257R	Missense	9/9	-
19-2247919-G-C	SF3A2	c.769G>C	p.G257R	Missense	9/9	-
14-90730490-G-C	PSMC1	c.571G>C	p.D191H	Missense	6/11	-
13-42486198-TCG-GCT	VWA8	c.346_348delCGAinsAGC	p.R116S	Missense	3/45	-
12-63544052-A-G	AVPR1A	c.565T>C	p.F189L	Missense	1/2	-
12-63544050-G-T	AVPR1A	c.567C>A	p.F189L	Missense	1/2	-
12-63544050-G-C	AVPR1A	c.567C>G	p.F189L	Missense	1/2	-
14-93650185-G-C	MOAP1	c.403C>G	p.Q135E	Missense	3/3	-
19-12430324-T-G	ZNF563	c.515A>C	p.K172T	Missense	4/4	-
13-38153479-G-A	POSTN	c.1678C>T	p.Q560*	Nonsense	13/23	-
15-52338788-A-C	MAPK6	c.131A>C	p.K44T	Missense	2/6	-
15-39882098-G-C	THBS1	c.2019G>C	p.M673I	Missense	13/22	-
15-39882098-G-A	THBS1	c.2019G>A	p.M673I	Missense	13/22	-
15-39882098-G-T	THBS1	c.2019G>T	p.M673I	Missense	13/22	-
19-37368708-G-A	ZNF345	c.976G>A	p.G326S	Missense	3/3	-
14-23310835-G-T	MMP14	c.244G>T	p.A82S	Missense	2/10	-
18-34398867-G-T	TPGS2	c.155C>A	p.S52Y	Missense	2/7	-
19-48558161-G-A	PLA2G4C	c.1403C>T	p.P468L	Missense	15/17	-
12-56718843-C-G	PAN2	c.1549G>C	p.A517P	Missense	10/26	-
19-49565085-G-T	NTF4	c.170C>A	p.P57H	Missense	2/2	-
12-71965326-C-T	LGR5	c.1103C>T	p.P368L	Missense	12/18	-
19-52659575-C-A	ZNF836	c.1361G>T	p.R454L	Missense	5/5	-
14-21623223-T-C	OR5AU1	c.962A>G	p.Q270R	Missense	1/1	-
20-35491265-C-A	SOGA1	c.483G>T	p.Q161H	Missense	1/15	-
22-40257832-G-T	ENTHD1	c.530C>A	p.P177Q	Missense	3/7	-
16-47494827-C-A	ITFG1	c.130G>T	p.A44S	Missense	1/18	-
X-30873177-T-C	TAB3	c.605A>G	p.N202S	Missense	6/11	-
X-96139637-A-G	RPA4	c.328A>G	p.R110G	Missense	1/1	-
14-23945478-G-T	NGDN	c.575G>T	p.R192L	Missense	8/11	-
20-35491265-C-G	SOGA1	c.483G>C	p.Q161H	Missense	1/15	-
12-6091066-C-G	VWF	c.7173G>C	p.E2391D	Missense	42/52	-
12-6091066-C-A	VWF	c.7173G>T	p.E2391D	Missense	42/52	-
11-64323830-A-G	SLC22A11	c.359A>G	p.D120G	Missense	1/10	-
21-45784037-T-A	TRPM2	c.295T>A	p.L99M	Missense	3/32	-
22-18301454-C-T	MICAL3	c.3973G>A	p.E1325K	Missense	26/32	-
14-105418361-C-T	AHNAK2	c.3427G>A	p.A1143T	Missense	7/7	-
22-36661954-C-T	APOL1	c.1072C>T	p.H358Y	Missense	6/6	-
13-39603476-T-C	PROSER1	c.217A>G	p.I73V	Missense	4/13	-
14-50611935-T-A	SOS2	c.2620A>T	p.S874C	Missense	16/23	-
16-88643794-T-G	ZC3H18	c.263T>G	p.L88R	Missense	2/18	-
16-67970641-T-A	PSMB10	c.12A>T	p.P4=	Synonymous	1/8	-
16-67970641-T-C	PSMB10	c.12A>G	p.P4=	Synonymous	1/8	-
16-67970641-T-G	PSMB10	c.12A>C	p.P4=	Synonymous	1/8	-
13-25745150-C-G	AMER2	c.608G>C	p.W203S	Missense	1/1	-
17-55184416-G-T	AKAP1	c.1591G>T	p.A531S	Missense	2/11	-
16-1129138-G-A	SSTR5	c.270G>A	p.M90I	Missense	2/2	-
11-51411727-T-G	OR4A5	c.669A>C	p.K223N	Missense	1/1	-
11-51411727-T-A	OR4A5	c.669A>T	p.K223N	Missense	1/1	-
16-1129138-G-C	SSTR5	c.270G>C	p.M90I	Missense	2/2	-
5-127744433-C-T	FBN2	c.1012G>A	p.V338M	Missense	8/65	-
14-60194190-G-C	RTN1	c.1212C>G	p.S404R	Missense	3/9	-
14-60194190-G-T	RTN1	c.1212C>A	p.S404R	Missense	3/9	-
14-60194192-T-G	RTN1	c.1210A>C	p.S404R	Missense	3/9	-
16-31429641-T-A	ITGAD	c.2636T>A	p.F879Y	Missense	22/30	-
6-13814265-G-C	MCUR1	c.397C>G	p.L133V	Missense	1/9	-
16-1129138-G-T	SSTR5	c.270G>T	p.M90I	Missense	2/2	-
9-140129175-G-T	SLC34A3	c.1327G>T	p.A443S	Missense	12/13	-
16-31435256-CT-AG	ITGAD	c.3136_3137delCTinsAG	p.L1046S	Missense	27/30	-
7-149129588-T-G	ZNF777	c.1775A>C	p.H592P	Missense	6/6	-
3-2787219-G-T	CNTN4	c.196G>T	p.G66*	Nonsense	6/25	-
13-108863017-C-A	LIG4	c.600G>T	p.Q200H	Missense	3/3	-
13-108863017-C-G	LIG4	c.600G>C	p.Q200H	Missense	3/3	-
19-38103178-G-T	ZNF540	c.997G>T	p.G333W	Missense	5/5	-
9-140128112-G-T	SLC34A3	c.784G>T	p.A262S	Missense	8/13	-
19-40719967-T-C	MAP3K10	c.2381T>C	p.L794P	Missense	9/10	-
17-46690712-T-C	HOXB8	c.584A>G	p.Q195R	Missense	2/2	-
19-58453038-T-C	ZNF256	c.1138A>G	p.M380V	Missense	3/3	-
17-78188920-G-T	SGSH	c.267C>A	p.Y89*	Nonsense	3/8	-
17-78188920-G-C	SGSH	c.267C>G	p.Y89*	Nonsense	3/8	-
12-50745781-C-A	FAM186A	c.4834G>T	p.G1612W	Missense	4/8	-
20-25656772-A-C	ZNF337	c.1152T>G	p.S384R	Missense	5/5	-
20-25656772-A-T	ZNF337	c.1152T>A	p.S384R	Missense	5/5	-
20-25656774-T-G	ZNF337	c.1150A>C	p.S384R	Missense	5/5	-
19-8156354-C-T	FBN3	c.6026G>A	p.C2009Y	Missense	48/64	-
11-62300541-C-T	AHNAK	c.1348G>A	p.G450R	Missense	5/5	-
11-62300541-C-G	AHNAK	c.1348G>C	p.G450R	Missense	5/5	-
5-127873104-C-G	FBN2	c.193G>C	p.E65Q	Missense	1/65	-
11-67400120-T-G	TBX10	c.727A>C	p.S243R	Missense	6/8	-
17-41369785-TC-AA	TMEM106A	c.754_755delTCinsAA	p.S252N	Missense	9/9	-
12-50190443-C-A	NCKAP5L	c.1200G>T	p.Q400H	Missense	8/13	-
12-50190443-C-G	NCKAP5L	c.1200G>C	p.Q400H	Missense	8/13	-
18-29037045-C-A	DSG3	c.174C>A	p.C58*	Nonsense	3/16	-
19-8171036-C-A	FBN3	c.4769G>T	p.C1590F	Missense	38/64	-
11-67765221-C-T	UNC93B1	c.830G>A	p.R277Q	Missense	7/12	-
19-12541935-T-A	ZNF443	c.1051A>T	p.S351C	Missense	4/4	-
19-12638158-C-A	ZNF564	c.764G>T	p.C255F	Missense	4/4	-
11-67400118-G-C	TBX10	c.729C>G	p.S243R	Missense	6/8	-
11-67400118-G-T	TBX10	c.729C>A	p.S243R	Missense	6/8	-
10-6143289-G-T	RBM17	c.179G>T	p.G60V	Missense	3/12	-
9-140127247-G-T	SLC34A3	c.316G>T	p.G106*	Nonsense	5/13	-
5-127712516-C-A	FBN2	c.1880G>T	p.C627F	Missense	14/65	-
7-149129355-T-C	ZNF777	c.2008A>G	p.K670E	Missense	6/6	-
1-161496052-G-T	HSPA6	c.1604G>T	p.R535M	Missense	1/1	-
3-64138917-C-A	PRICKLE2	c.728G>T	p.C243F	Missense	6/8	-
1-161495199-C-A	HSPA6	c.751C>A	p.H251N	Missense	1/1	-
2-27278869-G-T	AGBL5	c.1228G>T	p.A410S	Missense	7/15	-
7-90014280-G-T	GTPBP10	c.976G>T	p.A326S	Missense	10/10	-
2-107423294-C-A	ST6GAL2	c.1430G>T	p.C477F	Missense	6/6	-
2-161174704-C-G	RBMS1	c.286G>C	p.D96H	Missense	3/14	-
7-18625068-C-T	HDAC9	c.187C>T	p.L63F	Missense	2/25	-
5-137803761-A-T	EGR1	c.1623A>T	p.E541D	Missense	2/2	-
1-1231918-ACG-TCA	ACAP3	c.1222_1224delCGTinsTGA	p.R408*	Nonsense	15/24	-
17-79517490-G-A	FAAP100	c.1030C>T	p.P344S	Missense	3/9	-
19-58385641-C-T	ZNF814	c.1117G>A	p.V373I	Missense	3/3	-
7-8258065-G-C	ICA1	c.449C>G	p.S150*	Nonsense	6/14	-
3-186522447-T-C	RFC4	c.56A>G	p.D19G	Missense	2/11	-
14-68260452-C-A	ZFYVE26	c.2426G>T	p.G809V	Missense	14/42	-
6-139564325-C-A	TXLNB	c.1393G>T	p.E465*	Nonsense	10/10	-
22-38119837-GA-AT	TRIOBP	c.1274_1275delGAinsAT	p.R425H	Missense	7/24	-
6-138428347-G-C	PERP	c.131C>G	p.T44R	Missense	1/3	-
2-173898652-G-T	RAPGEF4	c.2660G>T	p.S887I	Missense	27/31	-
1-118635833-A-C	SPAG17	c.1119T>G	p.N373K	Missense	8/49	-
1-118635833-A-T	SPAG17	c.1119T>A	p.N373K	Missense	8/49	-
11-62292816-C-T	AHNAK	c.9073G>A	p.V3025M	Missense	5/5	-
5-76028810-T-A	F2R	c.760T>A	p.C254S	Missense	2/2	-
5-76028811-G-C	F2R	c.761G>C	p.C254S	Missense	2/2	-
11-56380569-G-T	OR5M1	c.410C>A	p.S137Y	Missense	2/2	-
15-78572789-G-T	DNAJA4	c.1181G>T	p.C394F	Missense	7/7	-
10-95791120-G-T	PLCE1	c.317G>T	p.C106F	Missense	2/33	-
1-87045810-A-G	CLCA4	c.2542A>G	p.I848V	Missense	14/14	-
1-118598521-C-A	SPAG17	c.2557G>T	p.V853F	Missense	19/49	-
11-56380967-T-A	OR5M1	c.12A>T	p.P4=	Synonymous	2/2	-
11-56380967-T-C	OR5M1	c.12A>G	p.P4=	Synonymous	2/2	-
11-56380967-T-G	OR5M1	c.12A>C	p.P4=	Synonymous	2/2	-
10-69752370-C-A	HERC4	c.1139G>T	p.S380I	Missense	10/25	-
1-152128305-C-T	RPTN	c.1270G>A	p.G424S	Missense	3/3	-
12-6220131-T-G	VWF	c.224A>C	p.D75A	Missense	4/52	-
7-21609717-TTG-ATC	DNAH11	c.1225_1227delTTGinsATC	p.L409I	Missense	7/82	-
12-11083296-C-T	PRH2	c.136C>T	p.R46C	Missense	3/4	-
11-59283121-G-A	OR4D9	c.736G>A	p.V246M	Missense	3/3	-
3-111710388-G-C	ABHD10	c.741G>C	p.M247I	Missense	5/5	-
3-111710388-G-A	ABHD10	c.741G>A	p.M247I	Missense	5/5	-
3-111710388-G-T	ABHD10	c.741G>T	p.M247I	Missense	5/5	-
9-14722416-C-G	CER1	c.255G>C	p.R85S	Missense	1/2	-
9-14722416-C-A	CER1	c.255G>T	p.R85S	Missense	1/2	-
3-195517036-GA-AT	MUC4	c.1414_1415delTCinsAT	p.S472I	Missense	2/25	-
15-41625167-C-T	NUSAP1	c.12C>T	p.P4=	Synonymous	1/11	-
15-41625167-C-G	NUSAP1	c.12C>G	p.P4=	Synonymous	1/11	-
18-28648954-G-A	DSC2	c.2414C>T	p.T805I	Missense	15/16	-
15-41625167-C-A	NUSAP1	c.12C>A	p.P4=	Synonymous	1/11	-
11-102824987-C-A	MMP13	c.535G>T	p.D179Y	Missense	4/10	-
1-236228203-CAG-GAT	NID1	c.175_177delCTGinsATC	p.L59I	Missense	1/20	-
17-39432005-G-T	KRTAP9-7	c.56G>T	p.W19L	Missense	1/1	-
11-4406807-G-T	TRIM21	c.1136C>A	p.T379K	Missense	7/7	-
19-11598685-G-A	ZNF653	c.593C>T	p.S198L	Missense	4/9	-
X-100747492-G-T	ARMCX4	c.3916G>T	p.G1306W	Missense	2/2	-
X-134494699-G-T	ZNF449	c.1255G>T	p.G419*	Nonsense	5/5	-
1-39321383-A-C	RRAGC	c.638T>G	p.L213R	Missense	3/7	-
1-158592917-C-G	SPTA1	c.5976G>C	p.K1992N	Missense	43/52	-
12-11286540-G-T	TAS2R30	c.304C>A	p.L102I	Missense	1/1	-
13-28895623-G-T	FLT1	c.3151C>A	p.P1051T	Missense	23/30	-
16-3191185-G-T	ZNF213	c.1217G>T	p.C406F	Missense	6/6	-
2-27898424-C-G	SLC4A1AP	c.1371C>G	p.N457K	Missense	6/14	-
2-27898424-C-A	SLC4A1AP	c.1371C>A	p.N457K	Missense	6/14	-
17-28407805-G-T	EFCAB5	c.3232G>T	p.V1078F	Missense	17/23	-
6-139488138-C-A	HECA	c.989C>A	p.A330E	Missense	2/4	-
19-43411101-A-C	PSG6	c.1213T>G	p.S405A	Missense	5/6	-
6-32712947-G-T	HLA-DQA2	c.94G>T	p.A32S	Missense	2/5	-
17-28270607-C-A	EFCAB5	c.130C>A	p.P44T	Missense	3/23	-
5-140745736-G-C	PCDHGA5	c.1839G>C	p.E613D	Missense	1/4	-
5-140745736-G-T	PCDHGA5	c.1839G>T	p.E613D	Missense	1/4	-
X-26157452-T-C	MAGEB18	c.350T>C	p.F117S	Missense	2/3	-
X-70352332-G-C	MED12	c.4359G>C	p.K1453N	Missense	31/45	-
X-70352332-G-T	MED12	c.4359G>T	p.K1453N	Missense	31/45	-
2-100900912-C-T	LONRF2	c.2113G>A	p.V705M	Missense	12/12	-
4-1164809-A-T	SPON2	c.614T>A	p.I205N	Missense	4/6	-
3-195518134-CT-TA	MUC4	c.316_317delAGinsTA	p.S106Y	Missense	2/25	-
3-37337616-G-C	GOLGA4	c.720G>C	p.M240I	Missense	7/24	-
3-37337616-G-A	GOLGA4	c.720G>A	p.M240I	Missense	7/24	-
3-37337616-G-T	GOLGA4	c.720G>T	p.M240I	Missense	7/24	-
5-68661289-TAA-CAT	TAF9	c.274_276delTTAinsATG	p.L92M	Missense	3/3	-
1-152659507-G-T	LCE2B	c.188G>T	p.C63F	Missense	2/2	-
1-116931603-C-T	ATP1A1	c.716C>T	p.T239M	Missense	7/23	-
12-8629930-G-T	CLEC6A	c.500G>T	p.G167V	Missense	6/6	-
1-158641145-T-G	SPTA1	c.1587A>C	p.E529D	Missense	12/52	-
1-158641145-T-A	SPTA1	c.1587A>T	p.E529D	Missense	12/52	-
3-37365571-C-T	GOLGA4	c.2194C>T	p.H732Y	Missense	14/24	-
16-89346165-C-A	ANKRD11	c.6785G>T	p.G2262V	Missense	9/13	-
1-158592917-C-A	SPTA1	c.5976G>T	p.K1992N	Missense	43/52	-
3-138664840-G-T	FOXL2	c.725C>A	p.A242D	Missense	1/1	-
3-44362683-G-T	TOPAZ1	c.4471G>T	p.E1491*	Nonsense	17/20	-
2-233409184-G-T	CHRNG	c.1143G>T	p.W381C	Missense	10/12	-
2-233409184-G-C	CHRNG	c.1143G>C	p.W381C	Missense	10/12	-
3-44285601-C-A	TOPAZ1	c.1603C>A	p.Q535K	Missense	2/20	-
2-188243747-A-C	CALCRL	c.420T>G	p.N140K	Missense	8/15	-
9-14722166-G-T	CER1	c.505C>A	p.Q169K	Missense	1/2	-
X-26157850-C-A	MAGEB18	c.748C>A	p.Q250K	Missense	2/3	-
10-5242243-G-T	AKR1C4	c.184G>T	p.G62*	Nonsense	2/9	-
17-46685405-C-G	HOXB7	c.453G>C	p.E151D	Missense	2/2	-
17-46685405-C-A	HOXB7	c.453G>T	p.E151D	Missense	2/2	-
19-55019126-A-G	LAIR2	c.91A>G	p.I31V	Missense	3/5	-
1-207039974-G-A	IL20	c.371G>A	p.R124Q	Missense	4/6	-
6-71603974-A-C	B3GAT2	c.593T>G	p.M198R	Missense	2/4	-
17-3649105-C-G	ITGAE	c.2272G>C	p.G758R	Missense	18/31	-
6-149395232-G-T	UST	c.1201G>T	p.E401*	Nonsense	8/8	-
2-188243747-A-T	CALCRL	c.420T>A	p.N140K	Missense	8/15	-
15-41669394-G-T	NUSAP1	c.1124G>T	p.G375V	Missense	10/11	-
16-27455993-C-T	IL21R	c.638C>T	p.T213I	Missense	6/9	-
1-109815946-C-A	CELSR2	c.8497C>A	p.Q2833K	Missense	32/34	-
5-157166388-G-C	THG1L	c.795G>C	p.M265I	Missense	6/6	-
5-157166388-G-A	THG1L	c.795G>A	p.M265I	Missense	6/6	-
5-157166388-G-T	THG1L	c.795G>T	p.M265I	Missense	6/6	-
13-33110948-T-G	N4BP2L2	c.217A>C	p.I73L	Missense	2/6	-
18-72775517-C-A	ZNF407	c.5840C>A	p.S1947Y	Missense	9/9	-
3-164716433-C-A	SI	c.4435G>T	p.G1479W	Missense	38/48	-
1-37291228-C-A	GRIK3	c.1730G>T	p.S577I	Missense	11/16	-
6-119611892-A-G	MAN1A1	c.853T>C	p.F285L	Missense	5/13	-
6-119611890-A-T	MAN1A1	c.855T>A	p.F285L	Missense	5/13	-
6-119611890-A-C	MAN1A1	c.855T>G	p.F285L	Missense	5/13	-
7-100683723-G-C	MUC17	c.9026G>C	p.R3009T	Missense	3/13	-
14-35276701-G-T	BAZ1A	c.682C>A	p.L228M	Missense	6/27	-
16-67686924-G-A	CARMIL2	c.2887G>A	p.A963T	Missense	29/38	-
7-88962792-CTT-ATG	ZNF804B	c.496_498delCTTinsATG	p.L166M	Missense	4/4	-
17-18220563-C-A	SMCR8	c.1460C>A	p.S487Y	Missense	1/2	-
17-19559706-G-T	ALDH3A2	c.499G>T	p.V167F	Missense	4/10	-
6-30919310-T-A	MUCL3	c.3069T>A	p.H1023Q	Missense	2/3	-
6-30919310-T-G	MUCL3	c.3069T>G	p.H1023Q	Missense	2/3	-
18-14542884-T-C	POTEC	c.262A>G	p.N88D	Missense	1/11	-
1-8420490-T-C	RERE	c.3077A>G	p.H1026R	Missense	18/23	-
19-12996779-C-T	KLF1	c.265G>A	p.G89S	Missense	2/3	-
19-59074268-T-C	MZF1	c.1376A>G	p.Q459R	Missense	6/6	-
6-30954134-CC-AG	MUC21	c.182_183delCCinsAG	p.T61K	Missense	2/3	-
12-50746927-T-G	FAM186A	c.3688A>C	p.T1230P	Missense	4/8	-
X-75648888-G-T	MAGEE1	c.565G>T	p.V189L	Missense	1/1	-
19-17999157-G-T	SLC5A5	c.1544G>T	p.S515I	Missense	13/15	-
19-59074277-A-G	MZF1	c.1367T>C	p.L456P	Missense	6/6	-
19-22271892-T-C	ZNF257	c.1340T>C	p.I447T	Missense	4/4	-
20-62839317-T-G	MYT1	c.768T>G	p.S256R	Missense	7/23	-
20-62839317-T-A	MYT1	c.768T>A	p.S256R	Missense	7/23	-
20-62839315-A-C	MYT1	c.766A>C	p.S256R	Missense	7/23	-
X-100746230-G-A	ARMCX4	c.2654G>A	p.R885K	Missense	2/2	-
14-35331461-C-A	BAZ1A	c.181G>T	p.G61*	Nonsense	3/27	-
1-152883384-C-G	IVL	c.1111C>G	p.L371V	Missense	2/2	-
19-22271826-A-C	ZNF257	c.1274A>C	p.H425P	Missense	4/4	-
1-201178749-G-C	IGFN1	c.4728G>C	p.M1576I	Missense	12/24	-
20-44680492-C-T	SLC12A5	c.2360C>T	p.T787M	Missense	18/26	-
16-67681266-TG-AC	CARMIL2	c.752_753delTGinsAC	p.V251D	Missense	10/38	-
8-29003899-C-G	KIF13B	c.2183G>C	p.R728T	Missense	18/40	-
22-20760282-A-C	ZNF74	c.959A>C	p.N320T	Missense	5/5	-
1-201178749-G-T	IGFN1	c.4728G>T	p.M1576I	Missense	12/24	-
1-152323957-C-G	FLG2	c.6305G>C	p.G2102A	Missense	3/3	-
1-152328398-T-C	FLG2	c.1864A>G	p.S622G	Missense	3/3	-
2-27804518-A-C	C2orf16	c.5079A>C	p.R1693S	Missense	1/1	-
2-27804518-A-T	C2orf16	c.5079A>T	p.R1693S	Missense	1/1	-
6-119669963-G-A	MAN1A1	c.268C>T	p.P90S	Missense	2/13	-
6-30918604-C-A	MUCL3	c.2363C>A	p.P788Q	Missense	2/3	-
X-75648888-G-C	MAGEE1	c.565G>C	p.V189L	Missense	1/1	-
3-50332907-C-T	HYAL3	c.127G>A	p.E43K	Missense	2/4	-
12-119942901-C-T	CCDC60	c.676C>T	p.R226*	Nonsense	7/14	-
1-182025903-A-T	ZNF648	c.1243T>A	p.S415T	Missense	2/2	-
2-220435326-T-C	OBSL1	c.629A>G	p.H210R	Missense	1/21	-
2-3482619-C-T	TRAPPC12	c.1880C>T	p.A627V	Missense	11/12	-
2-85554322-A-C	TGOLN2	c.533T>G	p.V178G	Missense	2/4	-
3-27763151-G-A	EOMES	c.635C>T	p.A212V	Missense	1/6	-
1-182026915-C-G	ZNF648	c.231G>C	p.E77D	Missense	2/2	-
1-182026915-C-A	ZNF648	c.231G>T	p.E77D	Missense	2/2	-
3-49690038-G-C	BSN	c.3049G>C	p.E1017Q	Missense	5/12	-
7-6825682-C-G	RSPH10B2	c.1861C>G	p.P621A	Missense	16/21	-
3-129156054-C-G	MBD4	c.433G>C	p.V145L	Missense	3/8	-
4-143191866-T-C	INPP4B	c.565A>G	p.I189V	Missense	10/26	-
2-27457086-A-G	CAD	c.3610A>G	p.I1204V	Missense	22/44	-
6-30954556-A-G	MUC21	c.604A>G	p.T202A	Missense	2/3	-
2-179826010-G-C	CCDC141	c.727C>G	p.Q243E	Missense	5/24	-
4-89941785-T-A	FAM13A	c.253A>T	p.N85Y	Missense	3/24	-
5-23527826-T-A	PRDM9	c.2629T>A	p.Y877N	Missense	11/11	-
5-140626743-G-T	PCDHB15	c.1597G>T	p.A533S	Missense	1/1	-
7-88965796-A-G	ZNF804B	c.3500A>G	p.Q1167R	Missense	4/4	-
6-30918948-A-C	MUCL3	c.2707A>C	p.N903H	Missense	2/3	-
6-30954122-T-C	MUC21	c.170T>C	p.V57A	Missense	2/3	-
3-129156054-C-A	MBD4	c.433G>T	p.V145L	Missense	3/8	-
19-17983140-G-A	SLC5A5	c.12G>A	p.V4=	Synonymous	1/15	-
19-17983140-G-C	SLC5A5	c.12G>C	p.V4=	Synonymous	1/15	-
19-17983140-G-T	SLC5A5	c.12G>T	p.V4=	Synonymous	1/15	-
4-187455169-C-A	MTNR1A	c.727G>T	p.V243F	Missense	2/2	-
10-94450032-G-T	HHEX	c.289G>T	p.G97W	Missense	1/4	-
7-88966051-C-T	ZNF804B	c.3755C>T	p.T1252I	Missense	4/4	-
7-100678860-A-C	MUC17	c.4163A>C	p.N1388T	Missense	3/13	-
19-35617315-CCG-ACA	LGI4	c.1156_1158delCGGinsTGT	p.R386C	Missense	8/9	-
19-1390945-G-T	NDUFS7	c.304G>T	p.D102Y	Missense	5/8	-
4-89653340-C-A	FAM13A	c.2656G>T	p.E886*	Nonsense	22/24	-
2-27804549-G-A	C2orf16	c.5110G>A	p.G1704S	Missense	1/1	-
17-19608784-C-T	SLC47A2	c.874G>A	p.A292T	Missense	10/17	-
3-195955077-C-T	SLC51A	c.454C>T	p.P152S	Missense	5/9	-
19-56104015-C-T	FIZ1	c.1292G>A	p.R431Q	Missense	3/3	-
22-28692196-T-C	TTC28	c.923A>G	p.K308R	Missense	5/23	-
22-38044408-G-T	SH3BP1	c.1282G>T	p.G428*	Nonsense	14/18	-
1-53074074-C-G	GPX7	c.541C>G	p.L181V	Missense	3/3	-
20-25472051-C-T	NINL	c.1421G>A	p.W474*	Nonsense	11/24	-
20-25472050-C-T	NINL	c.1422G>A	p.W474*	Nonsense	11/24	-
1-886569-C-A	NOC2L	c.1381G>T	p.A461S	Missense	12/19	-
20-44512331-T-C	ZSWIM1	c.1100T>C	p.I367T	Missense	2/2	-
1-880453-G-C	NOC2L	c.2127C>G	p.D709E	Missense	18/19	-
22-40417659-A-C	FAM83F	c.1145A>C	p.E382A	Missense	4/5	-
4-25835100-C-G	SEL1L3	c.952G>C	p.G318R	Missense	4/24	-
7-114174753-C-T	FOXP2	c.250C>T	p.P84S	Missense	3/17	-
15-43817962-C-G	MAP1A	c.4291C>G	p.P1431A	Missense	4/6	-
19-55450664-T-A	NLRP7	c.1523A>T	p.E508V	Missense	4/11	-
11-30032968-C-A	KCNA4	c.1258G>T	p.G420C	Missense	2/2	-
22-38051293-C-G	SH3BP1	c.1708C>G	p.P570A	Missense	18/18	-
2-109746483-T-G	SH3RF3	c.487T>G	p.S163A	Missense	1/10	-
5-13864604-T-C	DNAH5	c.4498A>G	p.T1500A	Missense	28/79	-
3-31710271-A-C	OSBPL10	c.1959T>G	p.C653W	Missense	10/12	-
2-152553762-T-C	NEB	c.1370A>G	p.N457S	Missense	16/182	-
5-137801506-CG-AT	EGR1	c.56_57delCGinsAT	p.P19H	Missense	1/2	-
10-48389242-C-T	RBP3	c.1636G>A	p.A546T	Missense	1/4	-
19-20117032-A-G	ZNF682	c.1279T>C	p.C427R	Missense	4/4	-
1-215342611-T-C	KCNK2	c.545T>C	p.I182T	Missense	4/7	-
7-114269992-C-A	FOXP2	c.529C>A	p.Q177K	Missense	5/17	-
15-64046763-T-G	HERC1	c.1715A>C	p.H572P	Missense	7/78	-
2-152510598-C-T	NEB	c.6823G>A	p.G2275R	Missense	52/182	-
2-152510598-C-G	NEB	c.6823G>C	p.G2275R	Missense	52/182	-
1-158617510-C-G	SPTA1	c.3715G>C	p.V1239L	Missense	27/52	-
1-158617510-C-A	SPTA1	c.3715G>T	p.V1239L	Missense	27/52	-
10-17735246-C-T	STAM	c.470C>T	p.P157L	Missense	6/14	-
2-189918196-C-T	COL5A2	c.2507G>A	p.R836Q	Missense	38/54	-
11-6486874-G-T	TRIM3	c.52C>A	p.Q18K	Missense	2/12	-
2-99226478-G-T	UNC50	c.256G>T	p.V86F	Missense	2/6	-
12-16507219-A-C	MGST1	c.33A>C	p.E11D	Missense	2/4	-
19-56108947-CA-AT	FIZ1	c.284_285delTGinsAT	p.L95H	Missense	2/3	-
11-68748067-G-T	MRGPRD	c.389C>A	p.P130H	Missense	1/1	-
6-139206816-C-G	ECT2L	c.2108C>G	p.P703R	Missense	18/22	-
11-72353361-C-A	PDE2A	c.81G>T	p.Q27H	Missense	2/31	-
11-72353361-C-G	PDE2A	c.81G>C	p.Q27H	Missense	2/31	-
22-40391120-T-C	FAM83F	c.74T>C	p.F25S	Missense	1/5	-
12-56397450-C-A	SUOX	c.277C>A	p.H93N	Missense	5/5	-
X-50028175-A-G	CCNB3	c.12A>G	p.P4=	Synonymous	3/13	-
X-50028175-A-C	CCNB3	c.12A>C	p.P4=	Synonymous	3/13	-
1-109804442-C-A	CELSR2	c.4310C>A	p.T1437N	Missense	5/34	-
1-152193252-G-T	HRNR	c.853C>A	p.Q285K	Missense	3/3	-
22-38051470-C-A	SH3BP1	c.1885C>A	p.Q629K	Missense	18/18	-
1-169586509-T-C	SELP	c.238A>G	p.N80D	Missense	3/17	-
5-137801732-G-C	EGR1	c.282G>C	p.E94D	Missense	1/2	-
2-152531833-G-A	NEB	c.3847C>T	p.Q1283*	Nonsense	35/182	-
2-189857632-G-T	COL3A1	c.1016G>T	p.G339V	Missense	15/51	-
3-28357900-A-C	CMC1	c.186A>C	p.E62D	Missense	3/4	-
3-28357900-A-T	CMC1	c.186A>T	p.E62D	Missense	3/4	-
2-233431564-A-C	EIF4E2	c.401A>C	p.K134T	Missense	5/7	-
1-152188517-GA-AT	HRNR	c.5587_5588delTCinsAT	p.S1863I	Missense	3/3	-
4-38798479-G-C	TLR1	c.1974C>G	p.N658K	Missense	4/4	-
12-16507219-A-T	MGST1	c.33A>T	p.E11D	Missense	2/4	-
12-27081811-G-C	INTS13	c.328C>G	p.P110A	Missense	4/17	-
12-51503029-T-G	TFCP2	c.592A>C	p.M198L	Missense	6/15	-
12-51503029-T-A	TFCP2	c.592A>T	p.M198L	Missense	6/15	-
14-99641470-T-C	BCL11B	c.1703A>G	p.N568S	Missense	4/4	-
4-38798479-G-T	TLR1	c.1974C>A	p.N658K	Missense	4/4	-
4-87809006-A-T	C4orf36	c.261T>A	p.C87*	Nonsense	4/5	-
12-112888246-TT-CC	PTPN11	c.262_263delTTinsCC	p.L88P	Missense	3/16	-
2-202211379-G-A	FLACC1	c.254C>T	p.P85L	Missense	5/15	-
6-56035861-C-A	COL21A1	c.706G>T	p.G236C	Missense	4/30	-
7-64388384-A-C	ZNF273	c.678A>C	p.K226N	Missense	4/4	-
7-64388384-A-T	ZNF273	c.678A>T	p.K226N	Missense	4/4	-
7-65419156-G-C	VKORC1L1	c.400G>C	p.V134L	Missense	3/3	-
7-65419156-G-T	VKORC1L1	c.400G>T	p.V134L	Missense	3/3	-
7-81620527-C-A	CACNA2D1	c.1770G>T	p.W590C	Missense	21/39	-
7-81620527-C-G	CACNA2D1	c.1770G>C	p.W590C	Missense	21/39	-
7-100731348-G-A	TRIM56	c.755G>A	p.G252E	Missense	3/3	-
8-21955090-C-G	FHIP2B	c.361C>G	p.H121D	Missense	4/17	-
8-68992692-G-T	PREX2	c.1657G>T	p.E553*	Nonsense	16/40	-
9-130479214-G-A	TTC16	c.110G>A	p.G37E	Missense	2/14	-
7-100730991-A-T	TRIM56	c.398A>T	p.D133V	Missense	3/3	-
4-898429-A-C	GAK	c.521T>G	p.L174R	Missense	5/28	-
14-105350642-G-A	CEP170B	c.1526G>A	p.R509Q	Missense	9/19	-
15-42164638-G-T	SPTBN5	c.5027C>A	p.A1676D	Missense	27/68	-
19-22154623-T-G	ZNF208	c.3213A>C	p.R1071S	Missense	4/4	-
15-63937719-G-A	HERC1	c.11041C>T	p.P3681S	Missense	56/78	-
4-88535792-AG-CC	DSPP	c.1978_1979delAGinsCC	p.S660P	Missense	5/5	-
4-898429-A-T	GAK	c.521T>A	p.L174H	Missense	5/28	-
11-119003389-C-T	HINFP	c.773C>T	p.P258L	Missense	7/10	-
13-113976662-G-A	LAMP1	c.1180G>A	p.G394R	Missense	9/9	-
13-113976662-G-C	LAMP1	c.1180G>C	p.G394R	Missense	9/9	-
14-24878391-G-A	NYNRIN	c.1391G>A	p.G464E	Missense	4/9	-
14-51382174-C-A	PYGL	c.1283G>T	p.R428M	Missense	11/20	-
14-64493322-G-A	SYNE2	c.6278G>A	p.G2093E	Missense	42/116	-
X-37027928-A-G	FAM47C	c.1445A>G	p.D482G	Missense	1/1	-
X-50028175-A-T	CCNB3	c.12A>T	p.P4=	Synonymous	3/13	-
17-41132927-G-C	RUNDC1	c.334G>C	p.V112L	Missense	1/5	-
15-43339432-C-T	UBR1	c.1595G>A	p.W532*	Nonsense	14/47	-
15-43339431-C-T	UBR1	c.1596G>A	p.W532*	Nonsense	14/47	-
8-98817623-G-A	LAPTM4B	c.415G>A	p.A48T	Missense	2/7	-
2-232790334-C-T	NPPC	c.182G>A	p.G61D	Missense	2/3	-
12-70956863-C-T	PTPRB	c.3929G>A	p.R1310K	Missense	16/34	-
10-11805283-G-A	ECHDC3	c.652G>A	p.G218R	Missense	5/5	-
10-11805283-G-C	ECHDC3	c.652G>C	p.G218R	Missense	5/5	-
2-71429589-T-C	PAIP2B	c.131A>G	p.N44S	Missense	2/4	-
X-32382807-T-G	DMD	c.5046A>C	p.E1682D	Missense	36/79	-
X-32382807-T-A	DMD	c.5046A>T	p.E1682D	Missense	36/79	-
3-161221161-C-T	OTOL1	c.865C>T	p.P289S	Missense	4/4	-
2-189931220-G-T	COL5A2	c.1459C>A	p.P487T	Missense	23/54	-
X-70523759-C-A	ITGB1BP2	c.637C>A	p.Q213K	Missense	8/11	-
1-158736166-A-G	OR6N1	c.307T>C	p.F103L	Missense	2/2	-
1-158736164-G-T	OR6N1	c.309C>A	p.F103L	Missense	2/2	-
1-158736164-G-C	OR6N1	c.309C>G	p.F103L	Missense	2/2	-
6-138745658-G-A	NHSL1	c.4381C>T	p.P1461S	Missense	8/8	-
1-158517333-G-A	OR6Y1	c.563C>T	p.P188L	Missense	2/2	-
X-70524971-G-T	ITGB1BP2	c.973G>T	p.E325*	Nonsense	11/11	-
17-41132927-G-T	RUNDC1	c.334G>T	p.V112L	Missense	1/5	-
7-27135425-G-C	HOXA1	c.107C>G	p.T36S	Missense	1/2	-
7-27135426-T-A	HOXA1	c.106A>T	p.T36S	Missense	1/2	-
19-5831548-T-C	FUT6	c.1031A>G	p.Q344R	Missense	3/3	-
21-45970591-G-T	KRTAP10-2	c.751C>A	p.Q251K	Missense	1/1	-
1-44475694-C-G	SLC6A9	c.262G>C	p.G88R	Missense	4/14	-
5-89923169-GTT-ATG	ADGRV1	c.814_816delGTTinsATG	p.V272M	Missense	7/90	-
3-160964233-T-A	NMD3	c.1127T>A	p.L376*	Nonsense	12/16	-
3-160964233-T-G	NMD3	c.1127T>G	p.L376*	Nonsense	12/16	-
3-161221407-G-A	OTOL1	c.1111G>A	p.G371R	Missense	4/4	-
3-161221407-G-C	OTOL1	c.1111G>C	p.G371R	Missense	4/4	-
1-46165796-C-A	IPP	c.1597G>T	p.G533C	Missense	9/9	-
19-48547148-A-G	CABP5	c.32T>C	p.F11S	Missense	1/6	-
X-32482720-G-T	DMD	c.3259C>A	p.Q1087K	Missense	24/79	-
5-138861113-CAG-AAA	STING1	c.175_177delCTGinsTTT	p.L59F	Missense	3/8	-
2-232790313-CG-AT	NPPC	c.202_203delCGinsAT	p.R68M	Missense	2/3	-
6-111543278-G-T	SLC16A10	c.1388G>T	p.G463V	Missense	6/6	-
6-41738887-C-T	FRS3	c.949G>A	p.A317T	Missense	7/7	-
6-111498465-G-A	SLC16A10	c.539G>A	p.C180Y	Missense	3/6	-
7-6487425-C-G	DAGLB	c.49G>C	p.D17H	Missense	1/15	-
7-27135078-C-A	HOXA1	c.454G>T	p.G152C	Missense	1/2	-
6-38702321-C-T	DNAH8	c.682C>T	p.P228S	Missense	5/93	-
21-42866387-T-C	TMPRSS2	c.134A>G	p.Y45C	Missense	3/14	-
X-57146494-G-T	SPIN2B	c.569C>A	p.P190Q	Missense	2/2	-
19-48542494-C-G	CABP5	c.319G>C	p.V107L	Missense	4/6	-
X-123179131-G-T	STAG2	c.580G>T	p.E194*	Nonsense	8/35	-
X-110496419-T-A	CAPN6	c.323A>T	p.E108V	Missense	4/13	-
7-148979072-G-A	ZNF783	c.1279G>A	p.G427R	Missense	6/6	-
7-148979072-G-C	ZNF783	c.1279G>C	p.G427R	Missense	6/6	-
8-133978818-A-C	TG	c.5562A>C	p.E1854D	Missense	30/48	-
8-133978818-A-T	TG	c.5562A>T	p.E1854D	Missense	30/48	-
9-95025296-T-G	IARS1	c.1742A>C	p.Q581P	Missense	17/34	-
9-114687067-A-C	UGCG	c.354A>C	p.K118N	Missense	4/9	-
9-114687067-A-T	UGCG	c.354A>T	p.K118N	Missense	4/9	-
10-8007518-T-C	TAF3	c.2045T>C	p.L682S	Missense	3/7	-
1-157738467-A-G	FCRL2	c.620T>C	p.L207S	Missense	5/12	-
6-130762327-G-A	TMEM200A	c.760G>A	p.V254I	Missense	3/3	-
11-55606492-G-T	OR5D16	c.265G>T	p.V89L	Missense	1/1	-
10-83635682-A-C	NRG3	c.586A>C	p.T196P	Missense	1/9	-
9-95013043-T-A	IARS1	c.2381A>T	p.Q794L	Missense	23/34	-
11-55606492-G-C	OR5D16	c.265G>C	p.V89L	Missense	1/1	-
11-59940586-A-T	MS4A6A	c.566T>A	p.M189K	Missense	6/6	-
11-118502072-G-A	PHLDB1	c.1976G>A	p.G659E	Missense	7/23	-
11-119003439-C-T	HINFP	c.823C>T	p.R275C	Missense	7/10	-
X-32862929-T-C	DMD	c.235A>G	p.K79E	Missense	4/79	-
12-16425717-C-T	SLC15A5	c.362G>A	p.G121D	Missense	2/9	-
12-99038323-C-T	IKBIP	c.157G>A	p.G53R	Missense	1/3	-
12-99038323-C-G	IKBIP	c.157G>C	p.G53R	Missense	1/3	-
7-116411618-G-A	MET	c.2797G>A	p.G933R	Missense	13/21	-
13-50594445-T-A	KCNRG	c.674T>A	p.L225*	Nonsense	2/2	-
10-118030445-C-A	GFRA1	c.223G>T	p.A75S	Missense	3/11	-
17-56405245-G-A	TSPOAP1	c.37C>T	p.P13S	Missense	1/32	-
19-54849486-A-G	LILRA4	c.376T>C	p.S126P	Missense	4/8	-
19-54849817-T-C	LILRA4	c.205A>G	p.R69G	Missense	3/8	-
5-175815511-CCT-ACA	NOP16	c.28_30delAGGinsTGT	p.R10C	Missense	1/5	-
9-3937116-T-A	GLIS3	c.1784A>T	p.K595M	Missense	5/11	-
10-96454713-CC-AA	CYP2C18	c.521_522delCCinsAA	p.P174Q	Missense	4/9	-
1-182835709-T-G	DHX9	c.1463T>G	p.F488C	Missense	13/28	-
2-179345629-T-A	PLEKHA3	c.33T>A	p.Y11*	Nonsense	1/8	-
2-179345629-T-G	PLEKHA3	c.33T>G	p.Y11*	Nonsense	1/8	-
10-96447954-G-C	CYP2C18	c.404G>C	p.G135A	Missense	3/9	-
16-20556505-G-T	ACSM2B	c.1255C>A	p.P419T	Missense	10/14	-
1-109793437-G-T	CELSR2	c.736G>T	p.E246*	Nonsense	1/34	-
19-49956629-T-A	ALDH16A1	c.41T>A	p.F14Y	Missense	1/17	-
19-33457299-G-A	CEP89	c.113C>T	p.P38L	Missense	2/19	-
19-57175586-G-C	ZNF835	c.981C>G	p.I327M	Missense	2/2	-
19-18321985-TC-AT	PDE4C	c.1796_1797delGAinsAT	p.R599H	Missense	15/15	-
8-65494357-C-A	BHLHE22	c.1010C>A	p.A337E	Missense	1/1	-
11-62300801-A-G	AHNAK	c.1088T>C	p.I363T	Missense	5/5	-
19-57175219-C-G	ZNF835	c.1348G>C	p.E450Q	Missense	2/2	-
4-77662900-G-A	SHROOM3	c.3574G>A	p.A1192T	Missense	5/11	-
15-42164015-C-T	SPTBN5	c.5266G>A	p.G1756R	Missense	28/68	-
15-42164015-C-G	SPTBN5	c.5266G>C	p.G1756R	Missense	28/68	-
11-6898207-C-A	OR10A4	c.329C>A	p.A110D	Missense	1/1	-
19-44352152-G-T	ZNF283	c.1399G>T	p.A467S	Missense	7/7	-
2-179345608-G-A	PLEKHA3	c.12G>A	p.V4=	Synonymous	1/8	-
2-179345608-G-C	PLEKHA3	c.12G>C	p.V4=	Synonymous	1/8	-
2-179345608-G-T	PLEKHA3	c.12G>T	p.V4=	Synonymous	1/8	-
11-62300990-T-C	AHNAK	c.899A>G	p.D300G	Missense	5/5	-
4-38800132-C-G	TLR1	c.321G>C	p.K107N	Missense	4/4	-
4-38800132-C-A	TLR1	c.321G>T	p.K107N	Missense	4/4	-
1-182853890-A-G	DHX9	c.3403A>G	p.I1135V	Missense	27/28	-
2-109524418-ATC-GTCTACTGTGCT	EDAR	c.859_861delinsAGCACAGTAGAC	p.S286_D287insSTV	MultiAAMissense	10/12	-
17-35298063-C-G	LHX1	c.554C>G	p.T185S	Missense	3/5	-
17-35298062-A-T	LHX1	c.553A>T	p.T185S	Missense	3/5	-
13-50594434-A-C	KCNRG	c.663A>C	p.E221D	Missense	2/2	-
13-50594434-A-T	KCNRG	c.663A>T	p.E221D	Missense	2/2	-
10-118030448-T-A	GFRA1	c.220A>T	p.S74C	Missense	3/11	-
3-53852127-G-C	CHDH	c.1462C>G	p.P488A	Missense	9/9	-
1-247835953-T-C	OR13G1	c.391A>G	p.T131A	Missense	2/2	-
1-159505280-A-G	OR10J5	c.518T>C	p.V173A	Missense	1/1	-
3-31666520-G-C	STT3B	c.1842G>C	p.M614I	Missense	12/16	-
3-31666520-G-A	STT3B	c.1842G>A	p.M614I	Missense	12/16	-
3-31666520-G-T	STT3B	c.1842G>T	p.M614I	Missense	12/16	-
1-109793165-G-T	CELSR2	c.464G>T	p.G155V	Missense	1/34	-
4-15042102-C-T	CPEB2	c.2191C>T	p.R731*	Nonsense	6/12	-
6-144074988-A-C	PHACTR2	c.393A>C	p.E131D	Missense	4/13	-
6-144074988-A-T	PHACTR2	c.393A>T	p.E131D	Missense	4/13	-
5-135692415-C-T	TRPC7	c.661G>A	p.A221T	Missense	2/12	-
20-61943775-G-A	COL20A1	c.1807G>A	p.E603K	Missense	15/36	-
5-140431326-G-C	PCDHB1	c.271G>C	p.D91H	Missense	1/1	-
5-141025719-C-G	FCHSD1	c.1084G>C	p.E362Q	Missense	12/20	-
X-46913948-A-G	JADE3	c.1361A>G	p.E454G	Missense	9/11	-
10-107015488-A-G	SORCS3	c.3266A>G	p.N1089S	Missense	24/27	-
7-92761288-C-A	SAMD9L	c.3997G>T	p.E1333*	Nonsense	5/5	-
4-77677633-A-G	SHROOM3	c.4741A>G	p.R1581G	Missense	8/11	-
14-77843904-C-A	SAMD15	c.143C>A	p.P48Q	Missense	1/3	-
8-86386028-A-C	CA2	c.339A>C	p.K113N	Missense	3/7	-
8-86386028-A-T	CA2	c.339A>T	p.K113N	Missense	3/7	-
10-135043896-C-T	UTF1	c.104C>T	p.T35I	Missense	1/2	-
11-62298837-A-C	AHNAK	c.3052T>G	p.F1018V	Missense	5/5	-
10-95454624-C-G	FRA10AC1	c.290G>C	p.R97P	Missense	5/14	-
11-62298837-A-G	AHNAK	c.3052T>C	p.F1018L	Missense	5/5	-
11-62298835-A-T	AHNAK	c.3054T>A	p.F1018L	Missense	5/5	-
11-62298835-A-C	AHNAK	c.3054T>G	p.F1018L	Missense	5/5	-
12-109017488-A-G	SELPLG	c.596T>C	p.M199T	Missense	2/2	-
11-64884767-C-G	ZNHIT2	c.359G>C	p.G120A	Missense	1/1	-
10-135043820-C-T	UTF1	c.28C>T	p.P10S	Missense	1/2	-
17-42635505-G-A	FZD2	c.449G>A	p.C150Y	Missense	1/1	-
19-42266022-G-C	CEACAM6	c.849G>C	p.E283D	Missense	4/6	-
20-33879703-CAC-GAT	FAM83C	c.403_405delGTGinsATC	p.V135I	Missense	1/4	-
14-80971308-G-C	CEP128	c.3128C>G	p.S1043C	Missense	24/25	-
13-47409510-T-C	HTR2A	c.878A>G	p.K293R	Missense	4/4	-
9-125424851-C-A	OR1L1	c.857C>A	p.P286Q	Missense	1/1	-
19-42266022-G-T	CEACAM6	c.849G>T	p.E283D	Missense	4/6	-
4-875700-G-T	GAK	c.1656C>A	p.H552Q	Missense	15/28	-
4-875700-G-C	GAK	c.1656C>G	p.H552Q	Missense	15/28	-
11-59814470-C-A	OOSP2	c.401C>A	p.P134H	Missense	4/4	-
X-46917934-C-A	JADE3	c.1927C>A	p.Q643K	Missense	11/11	-
9-4286277-G-C	GLIS3	c.149C>G	p.T50S	Missense	2/11	-
9-4286278-T-A	GLIS3	c.148A>T	p.T50S	Missense	2/11	-
11-67202504-G-C	RPS6KB2	c.1313G>C	p.S438T	Missense	15/15	-
11-64884777-C-G	ZNHIT2	c.349G>C	p.G117R	Missense	1/1	-
11-108155138-C-A	ATM	c.3931C>A	p.Q1311K	Missense	26/63	-
6-28541350-T-G	ZBED9	c.2316A>C	p.K772N	Missense	4/4	-
6-28541350-T-A	ZBED9	c.2316A>T	p.K772N	Missense	4/4	-
6-170632185-G-A	FAM120B	c.1753G>A	p.V585I	Missense	3/11	-
8-95879553-C-T	INTS8	c.2402C>T	p.S801F	Missense	20/27	-
9-140123185-C-T	RNF224	c.118C>T	p.R40C	Missense	3/3	-
11-4936561-G-T	OR51G2	c.333C>A	p.C111*	Nonsense	2/2	-
13-49781428-G-C	FNDC3A	c.3494G>C	p.R1165P	Missense	26/26	-
17-73944449-C-A	ACOX1	c.1818G>T	p.L606F	Missense	13/14	-
17-73944449-C-G	ACOX1	c.1818G>C	p.L606F	Missense	13/14	-
19-4523758-G-T	PLIN5	c.1174C>A	p.L392M	Missense	8/8	-
19-9060117-G-T	MUC16	c.27329C>A	p.A9110E	Missense	3/84	-
19-4714193-GC-TT	DPP9	c.212_213delGCinsAA	p.R71Q	Missense	4/22	-
1-184723720-G-C	EDEM3	c.61C>G	p.L21V	Missense	1/20	-
17-40269477-CCC-GCT	KAT2A	c.1564_1566delGGGinsAGC	p.G522S	Missense	10/18	-
1-249211921-G-T	PGBD2	c.1138G>T	p.E380*	Nonsense	3/3	-
11-376715-G-A	B4GALNT4	c.1592G>A	p.R531Q	Missense	14/20	-
12-25308313-G-T	DNAI7	c.232C>A	p.L78I	Missense	5/16	-
12-124175108-A-T	TCTN2	c.920A>T	p.N307I	Missense	8/18	-
15-39885623-C-G	THBS1	c.3021C>G	p.D1007E	Missense	19/22	-
15-39885623-C-A	THBS1	c.3021C>A	p.D1007E	Missense	19/22	-
17-39421957-T-C	KRTAP9-6	c.328T>C	p.S110P	Missense	1/1	-
17-79526428-G-T	NPLOC4	c.1684C>A	p.Q562K	Missense	17/17	-
19-35801535-G-T	MAG	c.1605G>T	p.Q535H	Missense	9/11	-
19-35801535-G-C	MAG	c.1605G>C	p.Q535H	Missense	9/11	-
19-4523998-C-A	PLIN5	c.934G>T	p.A312S	Missense	8/8	-
3-180381758-T-A	CCDC39	c.107A>T	p.D36V	Missense	2/20	-
10-50534410-C-A	C10orf71	c.3820C>A	p.Q1274K	Missense	3/3	-
3-180337686-C-A	CCDC39	c.2071G>T	p.E691*	Nonsense	15/20	-
5-149213321-G-T	PPARGC1B	c.1685G>T	p.C562F	Missense	5/12	-
10-26856104-T-C	APBB1IP	c.1688T>C	p.L563P	Missense	15/15	-
12-124177214-C-T	TCTN2	c.1043C>T	p.T348I	Missense	9/18	-
12-124163762-GTG-TTT	TCTN2	c.490_492delGTGinsTTT	p.V164F	Missense	5/18	-
13-49771050-CC-AG	FNDC3A	c.2264_2265delCCinsAG	p.A755E	Missense	20/26	-
1-201190784-G-T	IGFN1	c.10111G>T	p.G3371C	Missense	19/24	-
9-100133940-C-A	CCDC180	c.4684C>A	p.L1518I	Missense	34/37	-
12-55251989-G-T	MUCL1	c.236G>T	p.W79L	Missense	4/4	-
19-2873571-A-C	ZNF556	c.81A>C	p.K27N	Missense	2/4	-
19-2873571-A-T	ZNF556	c.81A>T	p.K27N	Missense	2/4	-
15-33916135-C-A	RYR3	c.2485C>A	p.R829S	Missense	20/104	-
15-85400760-A-G	ALPK3	c.3397A>G	p.S931G	Missense	6/14	-
9-107456871-C-A	OR13D1	c.169C>A	p.L57I	Missense	1/1	-
17-1359223-G-C	CRK	c.189C>G	p.N63K	Missense	1/3	-
17-1359223-G-T	CRK	c.189C>A	p.N63K	Missense	1/3	-
21-40778444-G-C	LCA5L	c.1377C>G	p.N459K	Missense	11/11	-
21-40778444-G-T	LCA5L	c.1377C>A	p.N459K	Missense	11/11	-
17-10364254-C-A	MYH4	c.1126G>T	p.A376S	Missense	12/40	-
1-19166815-C-A	TAS1R2	c.1798G>T	p.G600W	Missense	6/6	-
1-85412729-G-C	MCOLN2	c.834C>G	p.N278K	Missense	7/14	-
12-10978798-T-C	TAS2R10	c.71A>G	p.N24S	Missense	1/1	-
5-19612686-T-A	CDH18	c.668A>T	p.N223I	Missense	6/13	-
11-59480475-T-G	OR10V1	c.844A>C	p.I282L	Missense	1/1	-
21-43833313-G-A	UBASH3A	c.535G>A	p.E179K	Missense	4/15	-
1-152732603-C-A	KPRP	c.539C>A	p.T180N	Missense	2/2	-
8-2071446-G-T	MYOM2	c.3586G>T	p.G1196C	Missense	30/37	-
8-6289026-G-C	MCPH1	c.240G>C	p.R80S	Missense	4/14	-
8-6289026-G-T	MCPH1	c.240G>T	p.R80S	Missense	4/14	-
7-129107281-G-C	STRIP2	c.1867G>C	p.A623P	Missense	17/21	-
9-136307548-G-C	ADAMTS13	c.1997G>C	p.G666A	Missense	17/29	-
9-136310880-G-T	ADAMTS13	c.2671G>T	p.A891S	Missense	21/29	-
9-136310881-C-T	ADAMTS13	c.2672C>T	p.A891V	Missense	21/29	-
11-30033987-C-A	KCNA4	c.239G>T	p.R80L	Missense	2/2	-
8-6289093-C-A	MCPH1	c.307C>A	p.L103I	Missense	4/14	-
14-52466458-G-A	RTRAF	c.406G>A	p.A136T	Missense	5/8	-
17-40269460-G-A	KAT2A	c.1583C>T	p.S528F	Missense	10/18	-
19-2877299-A-G	ZNF556	c.343A>G	p.K115E	Missense	4/4	-
19-4719907-A-T	DPP9	c.12T>A	p.V4=	Synonymous	3/22	-
19-4719907-A-G	DPP9	c.12T>C	p.V4=	Synonymous	3/22	-
19-4719907-A-C	DPP9	c.12T>G	p.V4=	Synonymous	3/22	-
19-4538608-C-A	LRG1	c.388G>T	p.G130W	Missense	2/2	-
1-85412729-G-T	MCOLN2	c.834C>A	p.N278K	Missense	7/14	-
1-152732444-C-A	KPRP	c.380C>A	p.P127H	Missense	2/2	-
1-159505410-G-T	OR10J5	c.388C>A	p.L130M	Missense	1/1	-
9-116930167-A-C	COL27A1	c.332A>C	p.H111P	Missense	3/61	-
8-61654003-A-T	CHD7	c.12A>T	p.P4=	Synonymous	2/38	-
8-61654003-A-G	CHD7	c.12A>G	p.P4=	Synonymous	2/38	-
8-61654003-A-C	CHD7	c.12A>C	p.P4=	Synonymous	2/38	-
6-170657262-T-G	FAM120B	c.2041T>G	p.L681V	Missense	5/11	-
2-74129499-G-T	ACTG2	c.139G>T	p.G47*	Nonsense	3/9	-
1-205272901-C-T	NUAK2	c.1564G>A	p.G522S	Missense	7/7	-
2-58366890-C-A	VRK2	c.946C>A	p.H316N	Missense	11/13	-
9-135937417-GGC-TGG	CEL	c.37_39delGGCinsTGG	p.G10W	Missense	1/11	-
10-51556847-G-T	MSMB	c.206G>T	p.C69F	Missense	3/4	-
1-152732749-C-T	KPRP	c.685C>T	p.P229S	Missense	2/2	-
15-56390296-C-T	RFX7	c.1090G>A	p.V364I	Missense	9/10	-
13-39262869-G-T	FREM2	c.1388G>T	p.S463I	Missense	1/24	-
11-72422107-A-G	ARAP1	c.1172T>C	p.I391T	Missense	9/35	-
3-183774815-G-T	HTR3C	c.542G>T	p.S181I	Missense	5/9	-
19-12384071-TCC-CCA	ZNF44	c.997_999delGGAinsTGG	p.G333W	Missense	4/4	-
13-92408670-A-G	GPC5	c.1276A>G	p.K426E	Missense	5/8	-
15-56388395-T-C	RFX7	c.1531A>G	p.I511V	Missense	10/10	-
1-207643199-C-A	CR2	c.977C>A	p.T326K	Missense	6/20	-
17-40369264-C-A	STAT5B	c.1294G>T	p.A432S	Missense	11/19	-
5-43506384-T-C	C5orf34	c.398A>G	p.Y133C	Missense	4/13	-
4-71024484-C-A	PRR27	c.515C>A	p.A172E	Missense	3/5	-
17-60493601-A-T	EFCAB3	c.1228A>T	p.R410*	Nonsense	10/10	-
19-804052-C-G	PTBP1	c.132C>G	p.S44R	Missense	4/15	-
19-804052-C-A	PTBP1	c.132C>A	p.S44R	Missense	4/15	-
19-804050-A-C	PTBP1	c.130A>C	p.S44R	Missense	4/15	-
21-30380826-G-T	RWDD2B	c.184C>A	p.L62M	Missense	2/5	-
2-119603939-G-T	EN1	c.805C>A	p.P269T	Missense	1/2	-
2-27700476-C-A	IFT172	c.1171G>T	p.A391S	Missense	12/48	-
19-40698157-C-G	MAP3K10	c.219C>G	p.S73R	Missense	1/10	-
19-40698157-C-A	MAP3K10	c.219C>A	p.S73R	Missense	1/10	-
19-40698155-A-C	MAP3K10	c.217A>C	p.S73R	Missense	1/10	-
2-27704079-T-C	IFT172	c.619A>G	p.T207A	Missense	8/48	-
2-30143493-CG-AT	ALK	c.32_33delCGinsAT	p.P11H	Missense	1/29	-
3-52237960-T-C	ALAS1	c.509T>C	p.F170S	Missense	5/12	-
3-52476767-C-A	SEMA3G	c.272G>T	p.R91L	Missense	2/16	-
3-123366186-C-A	MYLK	c.4504G>T	p.E1502*	Nonsense	27/34	-
1-207640188-G-A	CR2	c.376G>A	p.G126R	Missense	2/20	-
1-207640188-G-C	CR2	c.376G>C	p.G126R	Missense	2/20	-
4-338208-C-T	ZNF141	c.215C>T	p.A72V	Missense	3/4	-
10-11971961-G-A	UPF2	c.3712C>T	p.R1238C	Missense	21/22	-
2-119604000-CG-AT	EN1	c.743_744delCGinsAT	p.P248H	Missense	1/2	-
5-140963171-C-G	DIAPH1	c.414G>C	p.Q138H	Missense	5/28	-
5-141304989-G-T	DELE1	c.161G>T	p.G54V	Missense	3/12	-
5-177548665-C-T	N4BP3	c.1298C>T	p.A433V	Missense	5/5	-
6-29430400-C-A	OR2H1	c.854C>A	p.P285H	Missense	4/4	-
6-46976772-A-C	ADGRF1	c.2399T>G	p.L800R	Missense	11/15	-
15-75968474-C-A	CSPG4	c.6386G>T	p.R2129M	Missense	10/10	-
1-168014227-G-A	DCAF6	c.2020G>A	p.E674K	Missense	16/22	-
6-165703532-T-C	C6orf118	c.1145A>G	p.D382G	Missense	7/9	-
6-169972533-G-T	WDR27	c.2627C>A	p.P876Q	Missense	25/26	-
7-4826013-G-A	AP5Z1	c.1265G>A	p.S422N	Missense	10/17	-
7-6864094-T-G	CCZ1B	c.304A>C	p.M102L	Missense	3/15	-
7-6864094-T-A	CCZ1B	c.304A>T	p.M102L	Missense	3/15	-
7-45701659-T-A	ADCY1	c.1451T>A	p.I484K	Missense	8/20	-
7-91794354-T-C	LRRD1	c.163A>G	p.I55V	Missense	2/6	-
16-11000578-C-T	CIITA	c.1229C>T	p.P410L	Missense	11/20	-
6-56917566-A-G	KIAA1586	c.269A>G	p.N90S	Missense	4/4	-
4-84255765-CAG-AAA	HPSE	c.169_171delCTGinsTTT	p.L57F	Missense	1/12	-
17-72541861-C-T	CD300C	c.61G>A	p.G21S	Missense	1/4	-
22-21983333-C-T	YDJC	c.568G>A	p.A190T	Missense	4/5	-
8-73849178-T-C	KCNB2	c.1588T>C	p.S530P	Missense	3/3	-
8-101733717-C-T	PABPC1	c.95G>A	p.S32N	Missense	1/15	-
8-145003609-C-G	PLEC	c.3054G>C	p.E1018D	Missense	24/32	-
4-71024252-TTA-ATG	PRR27	c.283_285delTTAinsATG	p.L95M	Missense	3/5	-
4-40439868-GA-TT	RBM47	c.1042_1043delTCinsAA	p.S348N	Missense	4/7	-
20-44418542-C-T	WFDC3	c.73G>A	p.G25R	Missense	2/7	-
20-44418542-C-G	WFDC3	c.73G>C	p.G25R	Missense	2/7	-
1-171306527-A-G	FMO4	c.1213A>G	p.M405V	Missense	9/10	-
1-169673745-A-G	SELL	c.769T>C	p.F244L	Missense	5/9	-
1-169673743-A-T	SELL	c.732T>A	p.F244L	Missense	5/9	-
1-169673743-A-C	SELL	c.732T>G	p.F244L	Missense	5/9	-
1-185200759-A-G	SWT1	c.2360A>G	p.N787S	Missense	16/19	-
8-145003609-C-A	PLEC	c.3054G>T	p.E1018D	Missense	24/32	-
9-136270017-A-G	STKLD1	c.1837A>G	p.N613D	Missense	17/18	-
9-140846754-A-G	CACNA1B	c.995A>G	p.N332S	Missense	7/47	-
8-101725364-GA-CG	PABPC1	c.688_689delTCinsCG	p.S230R	Missense	5/15	-
10-11990475-T-C	UPF2	c.3067A>G	p.M1023V	Missense	16/22	-
10-95658505-G-T	SLC35G1	c.356G>T	p.R119I	Missense	2/3	-
5-98193907-C-A	CHD1	c.4764G>T	p.W1588C	Missense	35/36	-
5-98193907-C-G	CHD1	c.4764G>C	p.W1588C	Missense	35/36	-
10-102058457-G-A	PKD2L1	c.593C>T	p.P198L	Missense	4/16	-
11-7846994-G-A	OR5P3	c.526C>T	p.H176Y	Missense	1/1	-
10-12071263-A-T	UPF2	c.626T>A	p.I209N	Missense	3/22	-
9-140772471-C-T	CACNA1B	c.86C>T	p.A29V	Missense	1/47	-
11-63141488-C-G	SLC22A9	c.784C>G	p.Q262E	Missense	4/10	-
11-68191132-A-T	LRP5	c.3203A>T	p.K1068M	Missense	14/23	-
11-68205971-T-C	LRP5	c.4169T>C	p.V1390A	Missense	20/23	-
11-72412819-C-G	ARAP1	c.2177G>C	p.R726P	Missense	16/35	-
12-6883770-G-T	LAG3	c.521G>T	p.S174I	Missense	4/8	-
12-34179650-G-C	ALG10	c.1222G>C	p.V408L	Missense	3/3	-
12-55945702-A-T	OR6C4	c.692A>T	p.Q231L	Missense	2/2	-
19-39108524-C-T	MAP4K1	c.12G>A	p.V4=	Synonymous	1/31	-
19-39108524-C-G	MAP4K1	c.12G>C	p.V4=	Synonymous	1/31	-
19-39108524-C-A	MAP4K1	c.12G>T	p.V4=	Synonymous	1/31	-
5-100191877-A-T	ST8SIA4	c.727T>A	p.L243I	Missense	4/5	-
1-62672685-G-T	L1TD1	c.385G>T	p.D129Y	Missense	3/4	-
12-119960747-G-C	CCDC60	c.1044G>C	p.E348D	Missense	10/14	-
12-119960747-G-T	CCDC60	c.1044G>T	p.E348D	Missense	10/14	-
12-56114980-T-G	RDH5	c.12T>G	p.P4=	Synonymous	2/5	-
2-17699667-G-C	RAD51AP2	c.16C>G	p.P6A	Missense	1/3	-
16-4659868-C-G	UBALD1	c.300G>C	p.M100I	Missense	3/3	-
12-56114980-T-A	RDH5	c.12T>A	p.P4=	Synonymous	2/5	-
12-56114980-T-C	RDH5	c.12T>C	p.P4=	Synonymous	2/5	-
12-34177059-T-C	ALG10	c.334T>C	p.Y112H	Missense	2/3	-
17-7906703-C-T	GUCY2D	c.338C>T	p.A113V	Missense	2/20	-
18-31326149-A-C	ASXL3	c.6337A>C	p.K2113Q	Missense	12/12	-
19-45593737-G-C	GEMIN7	c.365G>C	p.S122T	Missense	3/3	-
20-31626730-C-A	BPIFB6	c.862C>A	p.P288T	Missense	9/15	-
1-153604195-G-C	S100A1	c.163G>C	p.V55L	Missense	3/3	-
1-153604195-G-T	S100A1	c.163G>T	p.V55L	Missense	3/3	-
6-96988474-G-T	UFL1	c.1222G>T	p.E408*	Nonsense	11/19	-
1-62905550-C-A	USP1	c.12C>A	p.V4=	Synonymous	2/9	-
1-62905550-C-G	USP1	c.12C>G	p.V4=	Synonymous	2/9	-
1-62905550-C-T	USP1	c.12C>T	p.V4=	Synonymous	2/9	-
19-47585466-TCT-CCA	ZC3H4	c.1303_1305delAGAinsTGG	p.R435W	Missense	10/15	-
12-15131026-A-G	PDE6H	c.80A>G	p.K27R	Missense	2/4	-
6-129920444-C-A	ARHGAP18	c.1630G>T	p.D544Y	Missense	12/15	-
1-62910686-A-T	USP1	c.835A>T	p.N279Y	Missense	6/9	-
4-114153414-A-G	ANK2	c.482A>G	p.E161G	Missense	5/46	-
1-158615020-C-A	SPTA1	c.4152G>T	p.W1384C	Missense	29/52	-
1-158615020-C-G	SPTA1	c.4152G>C	p.W1384C	Missense	29/52	-
1-185121062-G-T	TRMT1L	c.241C>A	p.H81N	Missense	2/15	-
10-101458324-C-G	ENTPD7	c.1044C>G	p.D348E	Missense	10/13	-
10-101458324-C-A	ENTPD7	c.1044C>A	p.D348E	Missense	10/13	-
19-1828060-CG-TT	REXO1	c.727_728delCGinsAA	p.R243K	Missense	2/16	-
1-230916427-T-C	CAPN9	c.1454T>C	p.I485T	Missense	11/20	-
2-109746420-G-C	SH3RF3	c.424G>C	p.G142R	Missense	1/10	-
13-44455572-G-C	LACC1	c.451G>C	p.V151L	Missense	2/7	-
13-44455572-G-T	LACC1	c.451G>T	p.V151L	Missense	2/7	-
2-163124038-T-A	IFIH1	c.2849A>T	p.K950M	Missense	15/16	-
3-98188482-C-G	OR5K1	c.62C>G	p.P21R	Missense	2/2	-
10-16919033-A-G	CUBN	c.8969T>C	p.V2990A	Missense	57/67	-
3-148596307-G-C	CPA3	c.349G>C	p.A117P	Missense	4/11	-
12-50190076-G-T	NCKAP5L	c.1567C>A	p.P523T	Missense	8/13	-
16-4659868-C-T	UBALD1	c.300G>A	p.M100I	Missense	3/3	-
16-4659868-C-A	UBALD1	c.300G>T	p.M100I	Missense	3/3	-
6-76024335-T-A	FILIP1	c.1213A>T	p.R405W	Missense	5/6	-
4-146475001-G-C	SMAD1	c.1063G>C	p.V355L	Missense	6/7	-
4-146475001-G-T	SMAD1	c.1063G>T	p.V355L	Missense	6/7	-
5-1244740-C-G	SLC6A18	c.1514C>G	p.A505G	Missense	11/12	-
8-145651446-C-A	VPS28	c.67G>T	p.E23*	Nonsense	4/10	-
1-158650468-C-A	SPTA1	c.583G>T	p.V195F	Missense	5/52	-
12-128899564-T-C	TMEM132C	c.373T>C	p.F125L	Missense	2/9	-
1-201168485-AG-CT	IGFN1	c.391_392delAGinsCT	p.R131L	Missense	6/24	-
22-17443697-C-T	GAB4	c.1651G>A	p.A551T	Missense	10/10	-
6-76022261-T-C	FILIP1	c.3287A>G	p.N1096S	Missense	5/6	-
8-143695212-T-A	ARC	c.421A>T	p.S141C	Missense	1/3	-
6-139498195-C-A	HECA	c.1585C>A	p.H529N	Missense	4/4	-
7-100468043-C-G	TRIP6	c.787C>G	p.L263V	Missense	5/9	-
8-55534037-C-T	RP1	c.511C>T	p.L171F	Missense	2/4	-
7-127222333-A-C	GCC1	c.2063T>G	p.L688R	Missense	2/2	-
10-73970577-C-T	ASCC1	c.125G>A	p.C42Y	Missense	3/10	-
12-73046178-T-A	TRHDE	c.2617T>A	p.W918R	Missense	16/19	-
12-73046178-T-C	TRHDE	c.2752T>C	p.W918R	Missense	16/19	-
20-30667630-C-T	HCK	c.482C>T	p.P161L	Missense	6/13	-
1-158590204-C-T	SPTA1	c.6173G>A	p.W2058*	Nonsense	44/52	-
12-15130978-C-G	PDE6H	c.32C>G	p.A11G	Missense	2/4	-
1-156212942-G-A	BGLAP	c.292G>A	p.G98S	Missense	4/4	-
11-9812227-G-C	SBF2	c.4574C>G	p.T1525S	Missense	34/40	-
11-9812228-T-A	SBF2	c.4573A>T	p.T1525S	Missense	34/40	-
1-196927047-C-A	CFHR2	c.457C>A	p.P153T	Missense	4/5	-
3-93813928-G-A	NSUN3	c.673G>A	p.D225N	Missense	5/6	-
1-182908473-T-C	SHCBP1L	c.914A>G	p.K305R	Missense	5/10	-
4-76797708-C-A	PPEF2	c.1052G>T	p.S351I	Missense	11/17	-
12-50189794-T-C	NCKAP5L	c.1849A>G	p.S617G	Missense	8/13	-
8-10465732-T-A	RP1L1	c.5876A>T	p.E1959V	Missense	4/4	-
1-6268999-GC-AA	RNF207	c.383_384delGCinsAA	p.R128Q	Missense	4/18	-
5-175811305-T-C	NOP16	c.464A>G	p.Y155C	Missense	5/5	-
12-73015468-A-G	TRHDE	c.2477A>G	p.N871S	Missense	15/19	-
5-34824045-T-C	RAI14	c.2098T>C	p.S700P	Missense	15/18	-
12-106734687-T-C	TCP11L2	c.1226T>C	p.L409S	Missense	9/10	-
19-47575043-C-T	ZC3H4	c.2138G>A	p.G713E	Missense	13/15	-
20-31678567-C-T	BPIFB4	c.1105C>T	p.P369S	Missense	10/18	-
20-3128284-C-T	FASTKD5	c.1433G>A	p.G478D	Missense	2/2	-
1-6271147-C-T	RNF207	c.1078C>T	p.R360W	Missense	12/18	-
8-10465449-G-C	RP1L1	c.6159C>G	p.D2053E	Missense	4/4	-
7-100683850-A-G	MUC17	c.9153A>G	p.I3051M	Missense	3/13	-
7-73811483-G-A	CLIP2	c.2800G>A	p.V934I	Missense	14/17	-
9-33354851-T-G	NFX1	c.2834T>G	p.L945R	Missense	19/24	-
20-3128552-C-T	FASTKD5	c.1165G>A	p.G389R	Missense	2/2	-
20-3128552-C-G	FASTKD5	c.1165G>C	p.G389R	Missense	2/2	-
10-73973032-T-C	ASCC1	c.25A>G	p.I9V	Missense	2/10	-
16-68112725-C-T	DUS2	c.1318C>T	p.R440W	Missense	17/17	-
1-40733458-C-A	ZMPSTE24	c.271C>A	p.L91I	Missense	3/10	-
9-77377786-G-C	TRPM6	c.3801C>G	p.I1267M	Missense	26/39	-
19-46289753-C-T	DMWD	c.1001G>A	p.W334*	Nonsense	3/5	-
19-46289752-C-T	DMWD	c.1002G>A	p.W334*	Nonsense	3/5	-
6-123703263-C-G	TRDN	c.1165G>C	p.V389L	Missense	15/41	-
6-123703263-C-A	TRDN	c.1165G>T	p.V389L	Missense	15/41	-
20-4155774-G-T	SMOX	c.72G>T	p.Q24H	Missense	2/7	-
20-4155774-G-C	SMOX	c.72G>C	p.Q24H	Missense	2/7	-
1-46089241-CCT-ACA	CCDC17	c.256_258delAGGinsTGT	p.R86C	Missense	2/13	-
4-114120191-G-T	ANK2	c.310G>T	p.A104S	Missense	4/46	-
20-8714010-G-A	PLCB1	c.2014G>A	p.G672R	Missense	19/32	-
20-8714010-G-C	PLCB1	c.2014G>C	p.G672R	Missense	19/32	-
10-116853730-G-T	ATRNL1	c.221G>T	p.C74F	Missense	1/29	-
10-72026031-C-T	NPFFR1	c.124G>A	p.V42M	Missense	2/4	-
17-38976316-C-A	KRT10	c.1140G>T	p.Q380H	Missense	5/8	-
15-55669185-G-A	CCPG1	c.416C>T	p.S139F	Missense	5/9	-
15-81591730-C-T	IL16	c.2063C>T	p.T688I	Missense	14/19	-
17-38977299-T-C	KRT10	c.698A>G	p.D233G	Missense	2/8	-
17-19458531-G-C	SLC47A1	c.550G>C	p.V184L	Missense	7/17	-
17-19458531-G-T	SLC47A1	c.550G>T	p.V184L	Missense	7/17	-
17-76157218-C-T	C17orf99	c.253C>T	p.L85F	Missense	3/5	-
17-36895466-G-A	PCGF2	c.250C>T	p.P84S	Missense	5/11	-
1-111957602-C-G	OVGP1	c.1521G>C	p.K507N	Missense	11/11	-
1-111957602-C-A	OVGP1	c.1521G>T	p.K507N	Missense	11/11	-
21-36042075-G-A	CLIC6	c.388G>A	p.E130K	Missense	1/6	-
17-16256672-A-G	CENPV	c.79T>C	p.S27P	Missense	1/5	-
10-64148246-T-G	ZNF365	c.835T>G	p.L279V	Missense	3/5	-
1-152278774-G-C	FLG	c.8588C>G	p.T2863S	Missense	3/3	-
11-118764806-A-G	CXCR5	c.553A>G	p.I185V	Missense	2/2	-
15-81565453-G-T	IL16	c.698G>T	p.G233V	Missense	6/19	-
17-56400067-C-T	TSPOAP1	c.1265G>A	p.R422H	Missense	9/32	-
6-161056293-C-A	LPA	c.937G>T	p.A313S	Missense	7/39	-
1-158057857-G-T	KIRREL1	c.829G>T	p.D277Y	Missense	7/15	-
1-209790802-G-T	LAMB3	c.3181C>A	p.Q1061K	Missense	21/23	-
9-99325030-G-T	CDC14B	c.365C>A	p.T122N	Missense	4/14	-
2-37579972-G-T	QPCT	c.161G>T	p.R54L	Missense	2/7	-
9-95840250-A-G	SUSD3	c.400A>G	p.K134E	Missense	3/5	-
16-67691989-C-A	ACD	c.1364G>T	p.S369I	Missense	10/12	-
17-6364736-G-A	PITPNM3	c.2447C>T	p.P816L	Missense	18/20	-
5-150948330-A-G	FAT2	c.163T>C	p.F55L	Missense	2/24	-
5-150948328-G-T	FAT2	c.165C>A	p.F55L	Missense	2/24	-
5-150948328-G-C	FAT2	c.165C>G	p.F55L	Missense	2/24	-
17-56386139-G-C	TSPOAP1	c.4494C>G	p.S1498R	Missense	22/32	-
17-56386139-G-T	TSPOAP1	c.4494C>A	p.S1498R	Missense	22/32	-
17-56386141-T-G	TSPOAP1	c.4492A>C	p.S1498R	Missense	22/32	-
1-152286675-T-A	FLG	c.687A>T	p.Q229H	Missense	3/3	-
20-23586319-C-A	CST9	c.183G>T	p.Q61H	Missense	1/2	-
20-23586319-C-G	CST9	c.183G>C	p.Q61H	Missense	1/2	-
19-9070404-T-C	MUC16	c.17042A>G	p.E5681G	Missense	3/84	-
X-118971723-G-C	UPF3B	c.1299C>G	p.N433K	Missense	10/11	-
X-118971723-G-T	UPF3B	c.1299C>A	p.N433K	Missense	10/11	-
1-25549819-T-A	SYF2	c.670A>T	p.R224*	Nonsense	7/7	-
1-86622049-C-A	COL24A1	c.31G>T	p.G11*	Nonsense	1/60	-
1-209790877-G-T	LAMB3	c.3106C>A	p.L1036M	Missense	21/23	-
1-152130323-A-G	RPTN	c.43T>C	p.F15L	Missense	2/3	-
1-152130321-G-T	RPTN	c.45C>A	p.F15L	Missense	2/3	-
1-152130321-G-C	RPTN	c.45C>G	p.F15L	Missense	2/3	-
2-95815092-C-G	ZNF514	c.1138G>C	p.A380P	Missense	5/5	-
17-66449053-C-G	WIPI1	c.161G>C	p.S54T	Missense	2/13	-
17-56402305-CG-TA	TSPOAP1	c.808_809delCGinsTA	p.R270*	Nonsense	5/32	-
2-158115494-T-G	GALNT5	c.900T>G	p.S300R	Missense	1/10	-
2-158115494-T-A	GALNT5	c.900T>A	p.S300R	Missense	1/10	-
2-158115492-A-C	GALNT5	c.898A>C	p.S300R	Missense	1/10	-
2-96049019-G-T	KCNIP3	c.700G>T	p.E234*	Nonsense	8/9	-
17-56396598-G-C	TSPOAP1	c.1552C>G	p.L518V	Missense	13/32	-
4-728724-C-A	PCGF3	c.114C>A	p.C38*	Nonsense	5/11	-
2-101010177-C-A	CHST10	c.601G>T	p.D201Y	Missense	7/7	-
3-3887452-A-G	LRRN1	c.1127A>G	p.D376G	Missense	2/2	-
3-38647588-A-G	SCN5A	c.1192T>C	p.F398L	Missense	10/28	-
3-38647586-G-T	SCN5A	c.1194C>A	p.F398L	Missense	10/28	-
2-133402916-C-T	GPR39	c.1099C>T	p.H367Y	Missense	2/2	-
1-1007702-A-T	RNF223	c.245T>A	p.L82Q	Missense	2/2	-
2-220470426-C-G	STK11IP	c.748C>G	p.L239V	Missense	8/25	-
17-56390070-A-C	TSPOAP1	c.2112T>G	p.D704E	Missense	17/32	-
17-56390070-A-T	TSPOAP1	c.2112T>A	p.D704E	Missense	17/32	-
10-5246344-G-T	AKR1C4	c.257G>T	p.W86L	Missense	3/9	-
5-139422643-A-T	NRG2	c.12T>A	p.V4=	Synonymous	1/10	-
5-139422643-A-G	NRG2	c.12T>C	p.V4=	Synonymous	1/10	-
5-139422643-A-C	NRG2	c.12T>G	p.V4=	Synonymous	1/10	-
11-124179926-A-G	OR8D1	c.737T>C	p.M246T	Missense	3/3	-
9-117827131-C-A	TNC	c.3282G>T	p.W1094C	Missense	11/28	-
2-133174648-C-A	GPR39	c.33C>A	p.C11*	Nonsense	1/2	-
1-71512443-C-A	PTGER3	c.818G>T	p.W273L	Missense	1/4	-
5-33462041-C-T	TARS1	c.1660C>T	p.R554W	Missense	15/19	-
20-44575962-G-A	PCIF1	c.1768G>A	p.E590K	Missense	16/17	-
5-150947261-C-T	FAT2	c.1232G>A	p.R411Q	Missense	2/24	-
5-175798797-G-C	ARL10	c.634G>C	p.E212Q	Missense	4/4	-
3-62636750-GC-TT	CADPS	c.974_975delGCinsAA	p.R325Q	Missense	5/30	-
3-38647586-G-C	SCN5A	c.1194C>G	p.F398L	Missense	10/28	-
3-149688517-T-A	PFN2	c.127A>T	p.I43F	Missense	1/3	-
4-13603987-C-T	BOD1L1	c.4537G>A	p.E1513K	Missense	10/26	-
4-70599922-T-C	SULT1B1	c.436A>G	p.M146V	Missense	5/8	-
4-115791953-A-G	NDST4	c.1690T>C	p.F564L	Missense	7/14	-
4-115791951-G-T	NDST4	c.1692C>A	p.F564L	Missense	7/14	-
18-55143728-C-A	ONECUT2	c.1288C>A	p.R430S	Missense	2/2	-
X-48547728-G-A	WAS	c.1358G>A	p.S453N	Missense	11/12	-
2-105924673-C-A	TGFBRAP1	c.86G>T	p.C29F	Missense	2/12	-
1-155028455-A-C	ADAM15	c.723A>C	p.E241D	Missense	8/23	-
1-155028455-A-T	ADAM15	c.723A>T	p.E241D	Missense	8/23	-
4-115791951-G-C	NDST4	c.1692C>G	p.F564L	Missense	7/14	-
5-10618529-C-A	ANKRD33B	c.451C>A	p.Q151K	Missense	2/4	-
5-36985906-G-A	NIPBL	c.2624G>A	p.G875E	Missense	10/47	-
19-2918003-G-T	ZNF57	c.1384G>T	p.A462S	Missense	4/4	-
3-178927457-G-T	PIK3CA	c.1220G>T	p.C407F	Missense	7/21	-
17-64049870-G-C	CEP112	c.1202C>G	p.A401G	Missense	12/27	-
14-86088673-T-C	FLRT2	c.815T>C	p.F272S	Missense	2/2	-
10-108412167-G-C	SORCS1	c.2448C>G	p.N816K	Missense	18/26	-
10-108412167-G-T	SORCS1	c.2448C>A	p.N816K	Missense	18/26	-
16-66413314-C-A	CDH5	c.74C>A	p.A25E	Missense	2/12	-
6-30908788-G-T	MUCL3	c.12G>T	p.P4=	Synonymous	1/3	-
6-30908788-G-A	MUCL3	c.12G>A	p.P4=	Synonymous	1/3	-
9-117827131-C-G	TNC	c.3282G>C	p.W1094C	Missense	11/28	-
9-132637869-A-G	USP20	c.2249A>G	p.D750G	Missense	21/26	-
15-90764607-C-A	SEMA4B	c.604C>A	p.L202I	Missense	6/14	-
1-3319361-C-A	PRDM16	c.683C>A	p.P228H	Missense	6/17	-
7-100676475-C-T	MUC17	c.1778C>T	p.T593I	Missense	3/13	-
1-152081037-G-T	TCHH	c.4656C>A	p.D1552E	Missense	3/3	-
6-30908788-G-C	MUCL3	c.12G>C	p.P4=	Synonymous	1/3	-
9-132620772-C-G	USP20	c.225C>G	p.N75K	Missense	6/26	-
9-132620772-C-A	USP20	c.225C>A	p.N75K	Missense	6/26	-
21-47685401-T-C	MCM3AP	c.3068A>G	p.D1023G	Missense	12/28	-
10-105178275-C-A	PDCD11	c.1990C>A	p.L664I	Missense	15/36	-
22-43089747-A-G	A4GALT	c.211T>C	p.S71P	Missense	3/3	-
11-289930-C-G	PGGHG	c.114C>G	p.D38E	Missense	2/14	-
11-289930-C-A	PGGHG	c.114C>A	p.D38E	Missense	2/14	-
1-151204726-A-G	PIP5K1A	c.371A>G	p.E124G	Missense	6/16	-
2-48921428-A-T	LHCGR	c.882T>A	p.H294Q	Missense	10/11	-
2-48921428-A-C	LHCGR	c.882T>G	p.H294Q	Missense	10/11	-
1-152081037-G-C	TCHH	c.4656C>G	p.D1552E	Missense	3/3	-
6-30919087-T-C	MUCL3	c.2846T>C	p.I949T	Missense	2/3	-
21-47676862-C-A	MCM3AP	c.3773G>T	p.R1258L	Missense	17/28	-
1-155028677-G-C	ADAM15	c.866G>C	p.R289T	Missense	9/23	-
1-161166031-G-C	ADAMTS4	c.1020C>G	p.D340E	Missense	3/9	-
17-42170784-C-A	HDAC5	c.424G>T	p.E142*	Nonsense	5/27	-
1-151824790-G-T	THEM5	c.269C>A	p.S90Y	Missense	2/6	-
12-70149277-C-A	RAB3IP	c.89C>A	p.T30N	Missense	2/11	-
11-293436-G-A	PGGHG	c.1414G>A	p.D472N	Missense	9/14	-
10-124457914-G-T	C10orf120	c.343C>A	p.L115M	Missense	3/3	-
2-108626743-C-A	SLC5A7	c.1169C>A	p.A390E	Missense	9/9	-
14-33015064-A-G	AKAP6	c.1205A>G	p.K402R	Missense	4/14	-
12-7045638-A-C	ATN1	c.1208A>C	p.Q403P	Missense	5/10	-
19-2917218-C-A	ZNF57	c.599C>A	p.A200E	Missense	4/4	-
7-100682685-T-C	MUC17	c.7988T>C	p.L2663P	Missense	3/13	-
X-153035672-A-T	PLXNB3	c.1755A>T	p.Q585H	Missense	8/36	-
1-201178043-A-G	IGFN1	c.4022A>G	p.D1341G	Missense	12/24	-
11-290928-G-C	PGGHG	c.721G>C	p.E241Q	Missense	4/14	-
1-201180685-A-G	IGFN1	c.6664A>G	p.K2222E	Missense	12/24	-
3-62543122-G-C	CADPS	c.1711C>G	p.Q571E	Missense	10/30	-
4-121958082-CCC-ACA	NDNF	c.1042_1044delGGGinsTGT	p.G348C	Missense	4/4	-
3-123452723-G-T	MYLK	c.1120C>A	p.P374T	Missense	10/34	-
4-121958758-G-C	NDNF	c.368C>G	p.T123S	Missense	4/4	-
4-121958759-T-A	NDNF	c.367A>T	p.T123S	Missense	4/4	-
11-64977823-G-C	CAPN1	c.1959G>C	p.K653N	Missense	20/22	-
11-64977823-G-T	CAPN1	c.1959G>T	p.K653N	Missense	20/22	-
1-248129556-G-T	OR2AK2	c.923G>T	p.R308I	Missense	1/1	-
1-248344196-G-C	OR2M2	c.909G>C	p.K303N	Missense	2/2	-
1-248344196-G-T	OR2M2	c.909G>T	p.K303N	Missense	2/2	-
19-9074776-T-C	MUC16	c.12670A>G	p.T4224A	Missense	3/84	-
X-153035672-A-C	PLXNB3	c.1755A>C	p.Q585H	Missense	8/36	-
16-58032100-G-T	ZNF319	c.70C>A	p.H24N	Missense	2/2	-
19-49657373-TA-GT	HRC	c.1121_1122delTAinsAC	p.V374D	Missense	1/6	-
19-47597860-T-C	ZC3H4	c.167A>G	p.D56G	Missense	3/15	-
5-137802730-G-C	EGR1	c.592G>C	p.D198H	Missense	2/2	-
1-161166031-G-T	ADAMTS4	c.1020C>A	p.D340E	Missense	3/9	-
7-100350010-C-T	ZAN	c.2282C>T	p.T761I	Missense	14/49	-
7-101006365-G-T	COL26A1	c.52G>T	p.A18S	Missense	1/14	-
1-248525575-G-C	OR2T4	c.693G>C	p.M231I	Missense	1/1	-
1-248525575-G-A	OR2T4	c.693G>A	p.M231I	Missense	1/1	-
1-248525575-G-T	OR2T4	c.693G>T	p.M231I	Missense	1/1	-
2-29456536-G-C	ALK	c.2382C>G	p.C794W	Missense	14/29	-
7-100677329-G-T	MUC17	c.2632G>T	p.A878S	Missense	3/13	-
2-105915145-C-A	TGFBRAP1	c.706G>T	p.A236S	Missense	3/12	-
17-39023350-G-T	KRT12	c.89C>A	p.P30H	Missense	1/8	-
5-153677621-C-A	GALNT10	c.383C>A	p.P128Q	Missense	3/12	-
16-56871620-C-T	NUP93	c.2000C>T	p.A667V	Missense	18/22	-
3-171571545-G-A	TMEM212	c.448G>A	p.A150T	Missense	3/5	-
17-79767749-CC-AA	GCGR	c.152_153delCCinsAA	p.P51Q	Missense	3/14	-
11-7960448-A-T	OR10A3	c.620T>A	p.V207D	Missense	2/2	-
5-175392153-T-C	THOC3	c.430A>G	p.N144D	Missense	3/6	-
19-2202748-C-A	DOT1L	c.757C>A	p.L253M	Missense	9/28	-
6-5086426-C-G	PPP1R3G	c.707C>G	p.S236C	Missense	1/1	-
6-30139871-C-G	TRIM15	c.1143C>G	p.S381R	Missense	7/7	-
6-30139871-C-A	TRIM15	c.1143C>A	p.S381R	Missense	7/7	-
6-30139869-A-C	TRIM15	c.1141A>C	p.S381R	Missense	7/7	-
17-1961567-G-A	HIC1	c.1583G>A	p.R528H	Missense	2/2	-
9-130493650-T-A	TTC16	c.2588T>A	p.V863D	Missense	14/14	-
10-124593278-T-G	CUZD1	c.1561A>C	p.K521Q	Missense	8/9	-
21-33732214-A-G	URB1	c.1760T>C	p.V587A	Missense	14/39	-
17-7807209-A-T	CHD3	c.3794A>T	p.D1265V	Missense	24/40	-
11-88961081-A-T	TYR	c.1127A>T	p.Q376L	Missense	3/5	-
19-9088996-GA-CG	MUC16	c.2818_2819delTCinsCG	p.S940R	Missense	1/84	-
19-33113392-C-T	ANKRD27	c.1763G>A	p.G588E	Missense	18/29	-
19-37130774-T-C	ZNF461	c.473A>G	p.E158G	Missense	6/6	-
9-130479648-A-C	TTC16	c.227A>C	p.D76A	Missense	3/14	-
19-54611411-A-C	TFPT	c.564T>G	p.S188R	Missense	5/6	-
19-54611411-A-T	TFPT	c.564T>A	p.S188R	Missense	5/6	-
19-54611413-T-G	TFPT	c.562A>C	p.S188R	Missense	5/6	-
17-56292152-C-A	MKS1	c.465G>T	p.L155F	Missense	5/18	-
17-4722450-G-A	PLD2	c.2245G>A	p.V749I	Missense	22/25	-
12-7290581-T-C	CLSTN3	c.1241T>C	p.V414A	Missense	8/18	-
17-7340341-A-G	TMEM102	c.1043A>G	p.Y348C	Missense	3/3	-
18-48190729-T-C	MAPK4	c.401T>C	p.L134P	Missense	2/6	-
12-49219253-C-T	CACNB3	c.610C>T	p.L204F	Missense	8/13	-
12-49218471-AG-CC	CACNB3	c.427_428delAGinsCC	p.S143P	Missense	5/13	-
15-59144158-G-T	MINDY2	c.1731G>T	p.Q577H	Missense	8/9	-
15-59144158-G-C	MINDY2	c.1731G>C	p.Q577H	Missense	8/9	-
15-91448657-G-C	MAN2A2	c.309G>C	p.E103D	Missense	3/23	-
15-91448657-G-T	MAN2A2	c.309G>T	p.E103D	Missense	3/23	-
X-107170087-G-A	MID2	c.1992G>A	p.M664I	Missense	10/10	-
X-107170087-G-T	MID2	c.1992G>T	p.M664I	Missense	10/10	-
17-56285941-C-A	MKS1	c.1028G>T	p.W343L	Missense	12/18	-
17-79771414-G-T	GCGR	c.1283G>T	p.R428L	Missense	14/14	-
22-23634734-A-T	BCR	c.2789A>T	p.Y930F	Missense	15/23	-
20-23016761-A-T	SSTR4	c.641A>T	p.Y214F	Missense	1/1	-
17-56292152-C-G	MKS1	c.465G>C	p.L155F	Missense	5/18	-
17-46670807-C-A	HOXB5	c.238G>T	p.A80S	Missense	1/2	-
22-20073607-C-A	DGCR8	c.121C>A	p.Q41K	Missense	2/14	-
17-60813602-C-A	MARCHF10	c.1627G>T	p.E543*	Nonsense	6/11	-
19-47575127-A-G	ZC3H4	c.2054T>C	p.M685T	Missense	13/15	-
17-60837315-GA-AG	MARCHF10	c.262_263delTCinsCT	p.S88L	Missense	4/11	-
19-15198621-T-C	OR1I1	c.745T>C	p.S249P	Missense	2/2	-
X-107170087-G-C	MID2	c.1992G>C	p.M664I	Missense	10/10	-
13-102235688-T-C	ITGBL1	c.850T>C	p.S284P	Missense	6/11	-
3-186974571-T-C	MASP1	c.625A>G	p.S209G	Missense	5/11	-
20-55910895-G-T	SPO11	c.676G>T	p.D226Y	Missense	8/13	-
18-48190392-G-T	MAPK4	c.64G>T	p.D22Y	Missense	2/6	-
19-6754401-A-G	SH2D3A	c.1133T>C	p.V378A	Missense	7/10	-
22-43608464-C-G	SCUBE1	c.2188G>C	p.G730R	Missense	17/22	-
17-33884942-CG-TA	SLFN14	c.139_140delCGinsTA	p.R47*	Nonsense	3/6	-
5-139422532-G-TGCC	NRG2	c.121_123delinsAGGGCA	p.S41delinsRA	MultiAAMissense	1/10	-
19-501810-C-A	MADCAM1	c.809C>A	p.P270Q	Missense	4/5	-
19-15756599-G-T	CYP4F3	c.269G>T	p.W90L	Missense	3/13	-
20-23065460-C-G	CD93	c.1370G>C	p.G457A	Missense	1/2	-
22-42415358-CG-AC	WBP2NL	c.106_107delCGinsAC	p.R36T	Missense	2/6	-
3-10401783-G-T	ATP2B2	c.1684C>A	p.P562T	Missense	13/23	-
11-74716966-T-C	NEU3	c.815T>C	p.V272A	Missense	3/3	-
2-11053850-A-C	KCNF1	c.1298A>C	p.N433T	Missense	1/1	-
11-130058139-G-A	ST14	c.212G>A	p.G71E	Missense	2/19	-
21-47744182-G-A	PCNT	c.40G>A	p.A14T	Missense	1/47	-
12-662464-C-A	B4GALNT3	c.1375C>A	p.P459T	Missense	14/20	-
2-163055374-T-C	FAP	c.1295A>G	p.Y432C	Missense	16/26	-
16-4933839-G-C	PPL	c.4817C>G	p.T1606S	Missense	22/22	-
16-4933840-T-A	PPL	c.4816A>T	p.T1606S	Missense	22/22	-
2-178482906-G-A	TTC30A	c.524C>T	p.S175F	Missense	1/1	-
12-58162852-G-T	METTL1	c.758C>A	p.P253Q	Missense	6/6	-
21-47766798-C-T	PCNT	c.862C>T	p.R288C	Missense	5/47	-
5-156915439-G-A	ADAM19	c.2384C>T	p.P795L	Missense	21/23	-
13-20797032-A-C	GJB6	c.588T>G	p.I196M	Missense	5/5	-
9-115962230-T-C	FKBP15	c.512A>G	p.K171R	Missense	7/28	-
3-73433217-G-A	PDZRN3	c.2500C>T	p.P834S	Missense	10/10	-
1-152085540-AG-TT	TCHH	c.152_153delCTinsAA	p.P51Q	Missense	3/3	-
X-105449685-GA-AC	PWWP3B	c.260_261delGAinsAC	p.G87D	Missense	4/4	-
3-160146597-C-A	SMC4	c.2662C>A	p.H888N	Missense	18/24	-
11-134054560-G-T	NCAPD3	c.2423C>A	p.A808E	Missense	19/35	-
11-134037934-G-A	NCAPD3	c.3530C>T	p.A1177V	Missense	27/35	-
14-64476696-T-A	SYNE2	c.4590T>A	p.C1530*	Nonsense	32/116	-
1-152083873-A-T	TCHH	c.1820T>A	p.V607E	Missense	3/3	-
4-4270301-G-T	LYAR	c.961C>A	p.Q321K	Missense	9/10	-
3-73673406-C-A	PDZRN3	c.571G>T	p.A191S	Missense	1/10	-
5-32089947-G-C	PDZD2	c.6393G>C	p.R2131S	Missense	20/25	-
5-32089947-G-T	PDZD2	c.6393G>T	p.R2131S	Missense	20/25	-
5-32074333-TT-CC	PDZD2	c.3121_3122delTTinsCC	p.L1041P	Missense	18/25	-
7-45122529-G-T	NACAD	c.3250C>A	p.L1084M	Missense	2/8	-
1-93298954-T-A	RPL5	c.12T>A	p.V4=	Synonymous	2/8	-
1-93298954-T-C	RPL5	c.12T>C	p.V4=	Synonymous	2/8	-
1-93298954-T-G	RPL5	c.12T>G	p.V4=	Synonymous	2/8	-
19-20229543-A-G	ZNF90	c.1180A>G	p.K394E	Missense	4/4	-
15-91504278-G-T	RCCD1	c.973G>T	p.G325C	Missense	7/8	-
6-46660247-T-C	TDRD6	c.4382T>C	p.I1461T	Missense	1/4	-
19-20229538-G-C	ZNF90	c.1175G>C	p.S392T	Missense	4/4	-
11-4843442-A-T	OR51F2	c.827A>T	p.H264L	Missense	1/1	-
6-130467159-C-A	SAMD3	c.1191G>T	p.L397F	Missense	10/12	-
19-39669199-C-T	PAK4	c.1756C>T	p.R586C	Missense	10/10	-
6-130467159-C-G	SAMD3	c.1191G>C	p.L397F	Missense	10/12	-
6-159642726-C-T	FNDC1	c.764C>T	p.S255L	Missense	6/23	-
8-101153896-C-A	FBXO43	c.586G>T	p.G196C	Missense	2/5	-
22-42423025-T-C	WBP2NL	c.770T>C	p.L257P	Missense	6/6	-
2-189916120-C-G	COL5A2	c.2857G>C	p.V953L	Missense	42/54	-
7-17379793-C-A	AHR	c.2344C>A	p.H782N	Missense	10/11	-
14-64593135-G-A	SYNE2	c.13645G>A	p.E4549K	Missense	72/116	-
1-217915409-G-T	SPATA17	c.488G>T	p.R163L	Missense	6/11	-
21-47754641-A-G	PCNT	c.598A>G	p.I200V	Missense	3/47	-
5-31799758-A-G	PDZD2	c.403A>G	p.K135E	Missense	2/25	-
2-189916120-C-A	COL5A2	c.2857G>T	p.V953L	Missense	42/54	-
11-66359867-C-A	CCDC87	c.620G>T	p.C207F	Missense	1/1	-
3-129289911-G-A	PLXND1	c.3572C>T	p.P1191L	Missense	18/36	-
9-135553794-A-G	GTF3C4	c.788A>G	p.K263R	Missense	2/5	-
3-73453367-A-T	PDZRN3	c.1098T>A	p.H366Q	Missense	4/10	-
3-73453367-A-C	PDZRN3	c.1098T>G	p.H366Q	Missense	4/10	-
17-7247273-C-T	ACAP1	c.667C>T	p.Q223*	Nonsense	8/22	-
12-9906132-C-T	CD69	c.545G>A	p.S182N	Missense	5/5	-
17-79176094-C-T	CEP131	c.734G>A	p.G245E	Missense	7/26	-
17-72951989-C-G	HID1	c.1534G>C	p.A512P	Missense	13/19	-
18-23969855-C-G	TAF4B	c.2468C>G	p.A823G	Missense	15/15	-
7-100683635-T-C	MUC17	c.8938T>C	p.S2980P	Missense	3/13	-
1-217955633-G-T	SPATA17	c.841G>T	p.E281*	Nonsense	8/11	-
X-105450093-C-A	PWWP3B	c.668C>A	p.A223E	Missense	4/4	-
7-128498497-G-T	FLNC	c.8098G>T	p.E2700*	Nonsense	48/48	-
19-53912200-T-G	ZNF765	c.1392T>G	p.N464K	Missense	4/4	-
19-53912200-T-A	ZNF765	c.1392T>A	p.N464K	Missense	4/4	-
7-142626207-G-C	TRPV5	c.496C>G	p.P166A	Missense	5/15	-
20-23066363-C-T	CD93	c.467G>A	p.R156H	Missense	1/2	-
17-43311045-C-A	FMNL1	c.432C>A	p.N144K	Missense	5/27	-
19-1012181-G-A	TMEM259	c.725C>T	p.T242M	Missense	5/11	-
19-44946760-T-C	ZNF229	c.80A>G	p.K27R	Missense	4/6	-
17-40010957-C-G	KLHL11	c.1162G>C	p.V388L	Missense	2/2	-
11-103031738-T-C	DYNC2H1	c.4456T>C	p.F1486L	Missense	29/89	-
11-103031740-T-A	DYNC2H1	c.4458T>A	p.F1486L	Missense	29/89	-
11-103031740-T-G	DYNC2H1	c.4458T>G	p.F1486L	Missense	29/89	-
1-201179101-G-T	IGFN1	c.5080G>T	p.D1694Y	Missense	12/24	-
16-84360496-T-A	WFDC1	c.613T>A	p.S205T	Missense	6/7	-
X-105855783-C-A	RADX	c.473C>A	p.T158N	Missense	1/14	-
13-32907524-G-T	BRCA2	c.1909G>T	p.G637C	Missense	10/27	-
16-55613025-T-A	LPCAT2	c.1319T>A	p.F440Y	Missense	13/14	-
13-102375221-A-C	FGF14	c.704T>G	p.M235R	Missense	5/5	-
16-88799760-C-T	PIEZO1	c.2590G>A	p.V864I	Missense	19/51	-
8-144671868-C-G	EEF1D	c.384G>C	p.K128N	Missense	3/10	-
8-144671868-C-A	EEF1D	c.384G>T	p.K128N	Missense	3/10	-
17-43311045-C-G	FMNL1	c.432C>G	p.N144K	Missense	5/27	-
19-9089084-A-G	MUC16	c.2731T>C	p.F911L	Missense	1/84	-
19-9089082-G-C	MUC16	c.2733C>G	p.F911L	Missense	1/84	-
17-40010957-C-A	KLHL11	c.1162G>T	p.V388L	Missense	2/2	-
12-113435538-CT-TG	OAS2	c.841_842delCTinsTG	p.L281W	Missense	4/10	-
12-49951381-C-T	KCNH3	c.2897C>T	p.P966L	Missense	15/15	-
X-48891051-C-G	TFE3	c.1065G>C	p.E355D	Missense	8/10	-
X-48891051-C-A	TFE3	c.1065G>T	p.E355D	Missense	8/10	-
4-94750753-C-A	ATOH1	c.676C>A	p.P226T	Missense	1/1	-
4-144619023-G-T	FREM3	c.2806C>A	p.P936T	Missense	1/8	-
20-47734457-C-T	STAU1	c.1366G>A	p.A456T	Missense	11/14	-
4-187532770-C-T	FAT1	c.9623G>A	p.R3208K	Missense	14/27	-
19-9090269-C-T	MUC16	c.1546G>A	p.A516T	Missense	1/84	-
5-137522851-G-A	KIF20A	c.2422G>A	p.A808T	Missense	19/19	-
16-15728638-G-C	MARF1	c.982C>G	p.L328V	Missense	4/27	-
22-50946778-G-T	NCAPH2	c.12G>T	p.V4=	Synonymous	1/20	-
8-144671435-G-A	EEF1D	c.817C>T	p.R273W	Missense	3/10	-
8-145746521-C-A	LRRC14	c.1141C>A	p.Q381K	Missense	4/4	-
11-488299-G-T	PTDSS2	c.722G>T	p.C241F	Missense	7/12	-
20-56185294-C-A	ZBP1	c.1004G>T	p.G335V	Missense	7/8	-
14-77714776-G-A	TMEM63C	c.1688G>A	p.R563H	Missense	19/24	-
5-79025941-G-T	CMYA5	c.1353G>T	p.L451F	Missense	2/13	-
5-79025941-G-C	CMYA5	c.1353G>C	p.L451F	Missense	2/13	-
5-137803507-T-A	EGR1	c.1369T>A	p.S457T	Missense	2/2	-
19-54695423-A-G	TSEN34	c.208A>G	p.S70G	Missense	1/4	-
20-56191384-A-G	ZBP1	c.175T>C	p.S59P	Missense	2/8	-
17-79177344-CG-AC	CEP131	c.578_579delCGinsGT	p.S193C	Missense	6/26	-
12-113435449-TA-AC	OAS2	c.752_753delTAinsAC	p.V251D	Missense	4/10	-
22-50956083-A-G	NCAPH2	c.344A>G	p.E115G	Missense	4/20	-
X-12904174-T-A	TLR7	c.547T>A	p.C183S	Missense	3/3	-
X-12904175-G-C	TLR7	c.548G>C	p.C183S	Missense	3/3	-
1-201178285-T-G	IGFN1	c.4264T>G	p.S1422A	Missense	12/24	-
2-96993883-C-A	ITPRIPL1	c.1514C>A	p.P505Q	Missense	3/3	-
14-24884118-G-A	NYNRIN	c.3163G>A	p.D1055N	Missense	9/9	-
18-7012023-A-G	LAMA1	c.3478T>C	p.S1160P	Missense	24/63	-
X-12903639-A-T	TLR7	c.12A>T	p.P4=	Synonymous	3/3	-
X-12903639-A-G	TLR7	c.12A>G	p.P4=	Synonymous	3/3	-
X-12903639-A-C	TLR7	c.12A>C	p.P4=	Synonymous	3/3	-
5-79028007-G-T	CMYA5	c.3419G>T	p.R1140M	Missense	2/13	-
22-50946778-G-A	NCAPH2	c.12G>A	p.V4=	Synonymous	1/20	-
22-50946778-G-C	NCAPH2	c.12G>C	p.V4=	Synonymous	1/20	-
4-54324827-G-A	FIP1L1	c.1507G>A	p.E503K	Missense	17/18	-
18-7038882-G-A	LAMA1	c.1490C>T	p.P497L	Missense	11/63	-
18-9887041-T-C	TXNDC2	c.364T>C	p.S122P	Missense	2/2	-
12-102028364-AGA-TGG	MYBPC1	c.589_591delAGAinsTGG	p.R197W	Missense	9/32	-
14-24879393-A-T	NYNRIN	c.2393A>T	p.D798V	Missense	4/9	-
1-110020597-C-T	SYPL2	c.614C>T	p.A205V	Missense	5/6	-
1-157494314-G-T	FCRL5	c.1994C>A	p.A665D	Missense	10/17	-
19-10475542-C-A	TYK2	c.1194G>T	p.Q398H	Missense	8/25	-
19-10475542-C-G	TYK2	c.1194G>C	p.Q398H	Missense	8/25	-
11-64815146-C-T	NAALADL1	c.1481G>A	p.S494N	Missense	12/18	-
6-102074452-T-G	GRIK2	c.481T>G	p.L161V	Missense	4/17	-
9-139272642-T-C	SNAPC4	c.3637A>G	p.I1213V	Missense	21/23	-
6-149997774-G-T	LATS1	c.2693C>A	p.A898D	Missense	6/8	-
10-26241163-A-T	MYO3A	c.124A>T	p.K42*	Nonsense	3/35	-
10-124593329-C-T	CUZD1	c.1510G>A	p.D504N	Missense	8/9	-
6-138575022-G-T	ARFGEF3	c.671G>T	p.S224I	Missense	9/34	-
6-30954884-G-A	MUC21	c.932G>A	p.G311E	Missense	2/3	-
22-37771119-G-C	ELFN2	c.456C>G	p.S152R	Missense	3/3	-
22-37771119-G-T	ELFN2	c.456C>A	p.S152R	Missense	3/3	-
22-37771121-T-G	ELFN2	c.454A>C	p.S152R	Missense	3/3	-
12-111758188-A-T	CUX2	c.2375A>T	p.D792V	Missense	17/22	-
13-32911044-T-A	BRCA2	c.2552T>A	p.F851Y	Missense	11/27	-
9-127619823-G-C	WDR38	c.859G>C	p.G287R	Missense	9/9	-
10-96334356-G-A	HELLS	c.751G>A	p.G251R	Missense	9/22	-
10-96334356-G-C	HELLS	c.751G>C	p.G251R	Missense	9/22	-
16-1621426-C-T	IFT140	c.1634G>A	p.S545N	Missense	14/31	-
X-12905439-C-G	TLR7	c.1812C>G	p.N604K	Missense	3/3	-
19-1011588-C-T	TMEM259	c.1075G>A	p.A359T	Missense	8/11	-
15-33256417-G-C	FMN1	c.3029C>G	p.P1010R	Missense	9/21	-
X-12905439-C-A	TLR7	c.1812C>A	p.N604K	Missense	3/3	-
13-95233420-T-G	TGDS	c.480A>C	p.K160N	Missense	6/12	-
13-95233420-T-A	TGDS	c.480A>T	p.K160N	Missense	6/12	-
11-56020338-C-A	OR5T3	c.663C>A	p.D221E	Missense	1/1	-
11-56431556-A-C	OR5AR1	c.395A>C	p.Y132S	Missense	1/1	-
6-32169025-C-G	NOTCH4	c.4008G>C	p.R1336S	Missense	22/30	-
6-32169025-C-A	NOTCH4	c.4008G>T	p.R1336S	Missense	22/30	-
7-106924090-G-T	COG5	c.1401C>A	p.N467K	Missense	13/22	-
17-57157172-C-T	TRIM37	c.559G>A	p.E187K	Missense	7/24	-
5-137802809-CC-AG	EGR1	c.671_672delCCinsAG	p.A224E	Missense	2/2	-
18-73139487-C-T	SMIM21	c.32G>A	p.R11Q	Missense	1/3	-
5-76332463-C-T	AGGF1	c.599C>T	p.A200V	Missense	4/14	-
11-56020338-C-G	OR5T3	c.663C>G	p.D221E	Missense	1/1	-
14-59105213-G-T	DACT1	c.293G>T	p.R98L	Missense	1/4	-
X-105449703-C-A	PWWP3B	c.278C>A	p.A93E	Missense	4/4	-
11-55563419-A-T	OR5D14	c.388A>T	p.N130Y	Missense	1/1	-
1-120307123-G-C	HMGCS2	c.231C>G	p.N77K	Missense	2/10	-
1-120307123-G-T	HMGCS2	c.231C>A	p.N77K	Missense	2/10	-
1-152128500-T-C	RPTN	c.1075A>G	p.N359D	Missense	3/3	-
17-39296371-C-G	KRTAP4-6	c.369G>C	p.R123S	Missense	1/1	-
12-42768801-G-T	PPHLN1	c.436G>T	p.G146C	Missense	5/10	-
2-190618960-G-T	OSGEPL1	c.721C>A	p.P241T	Missense	4/9	-
8-145003611-C-G	PLEC	c.3052G>C	p.E1018Q	Missense	24/32	-
6-152786540-CCT-ACA	SYNE1	c.1783_1785delAGGinsTGT	p.R595C	Missense	18/146	-
16-56864494-T-G	NUP93	c.982T>G	p.C328G	Missense	10/22	-
6-159184508-G-A	SYTL3	c.1690G>A	p.D564N	Missense	17/18	-
1-152130242-C-A	RPTN	c.124G>T	p.G42*	Nonsense	2/3	-
16-55513452-G-T	MMP2	c.61G>T	p.G21C	Missense	1/13	-
16-84104362-A-C	MBTPS1	c.1613T>G	p.L538W	Missense	13/23	-
X-103499497-T-A	ESX1	c.34A>T	p.I12F	Missense	1/4	-
11-57798799-T-G	OR6Q1	c.375T>G	p.D125E	Missense	1/1	-
17-7851550-T-C	CNTROB	c.2285T>C	p.V762A	Missense	16/19	-
15-99645623-A-T	SYNM	c.218A>T	p.E73V	Missense	1/5	-
6-102124541-T-A	GRIK2	c.585T>A	p.Y195*	Nonsense	5/17	-
6-102124541-T-G	GRIK2	c.585T>G	p.Y195*	Nonsense	5/17	-
6-135318659-TG-AT	HBS1L	c.674_675delCAinsAT	p.S225Y	Missense	6/18	-
2-29498007-C-G	ALK	c.1999G>C	p.G667R	Missense	11/29	-
10-26357733-AGA-CAT	MYO3A	c.1090_1092delAGAinsCAT	p.R364H	Missense	12/35	-
11-5758389-G-T	OR56B1	c.643G>T	p.G215*	Nonsense	1/1	-
11-94862667-G-C	ENDOD1	c.1427G>C	p.G476A	Missense	2/2	-
11-64534518-G-T	SF1	c.1436C>A	p.P479Q	Missense	12/13	-
7-106876938-A-G	COG5	c.2141T>C	p.L683P	Missense	18/22	-
11-108043985-G-T	NPAT	c.1726C>A	p.H576N	Missense	13/18	-
15-99646049-GC-AA	SYNM	c.644_645delGCinsAA	p.R215Q	Missense	1/5	-
17-39296371-C-A	KRTAP4-6	c.369G>T	p.R123S	Missense	1/1	-
5-140603208-T-A	PCDHB14	c.131T>A	p.F44Y	Missense	1/1	-
17-60060416-G-C	MED13	c.2948C>G	p.S983C	Missense	16/30	-
6-15452292-A-G	JARID2	c.379A>G	p.T127A	Missense	4/18	-
20-34090716-A-T	CEP250	c.4519A>T	p.R1507W	Missense	30/35	-
12-42781321-C-T	PPHLN1	c.632C>T	p.A211V	Missense	7/10	-
5-180551841-A-G	OR2V1	c.464T>C	p.I155T	Missense	4/4	-
22-19213030-G-T	CLTCL1	c.2074C>A	p.Q692K	Missense	13/33	-
6-49753889-C-A	PGK2	c.1012G>T	p.G338W	Missense	1/1	-
9-72892318-A-G	SMC5	c.473A>G	p.Q158R	Missense	4/25	-
17-48614090-G-T	EPN3	c.173G>T	p.G58V	Missense	2/10	-
19-50386297-C-T	TBC1D17	c.995C>T	p.T332I	Missense	9/17	-
17-25970576-CT-AA	LGALS9	c.470_471delCTinsAA	p.P157Q	Missense	5/11	-
11-56019756-T-G	OR5T3	c.81T>G	p.D27E	Missense	1/1	-
11-56019756-T-A	OR5T3	c.81T>A	p.D27E	Missense	1/1	-
11-9225821-G-A	DENND5A	c.335C>T	p.P112L	Missense	4/23	-
17-19232108-G-T	EPN2	c.1232G>T	p.W411L	Missense	8/11	-
6-102483416-A-C	GRIK2	c.2286A>C	p.K762N	Missense	15/17	-
6-102483416-A-T	GRIK2	c.2286A>T	p.K762N	Missense	15/17	-
20-3557562-C-G	ATRN	c.2271C>G	p.N757K	Missense	14/29	-
20-3557562-C-A	ATRN	c.2271C>A	p.N757K	Missense	14/29	-
19-47884560-G-A	DHX34	c.3277G>A	p.A1093T	Missense	16/17	-
5-52322627-A-T	ITGA2	c.114A>T	p.K38N	Missense	2/30	-
1-71542540-G-A	ZRANB2	c.239C>T	p.A80V	Missense	4/10	-
6-159134896-C-A	SYTL3	c.581C>A	p.A194D	Missense	9/18	-
1-152127704-G-C	RPTN	c.1871C>G	p.P624R	Missense	3/3	-
2-170665020-G-T	SSB	c.583G>T	p.E195*	Nonsense	7/12	-
11-8009045-CT-AA	EIF3F	c.146_147delCTinsAA	p.P49Q	Missense	1/8	-
12-69980090-G-C	CCT2	c.44G>C	p.G15A	Missense	2/16	-
1-71535022-CT-TA	ZRANB2	c.706_707delAGinsTA	p.S236Y	Missense	8/10	-
3-172165701-C-A	GHSR	c.503G>T	p.W168L	Missense	1/2	-
13-77532052-G-T	ACOD1	c.1378G>T	p.G460*	Nonsense	5/5	-
19-15124523-G-C	CCDC105	c.610G>C	p.E204Q	Missense	2/7	-
16-5139223-CAG-GAT	EEF2KMT	c.775_777delCTGinsATC	p.L259I	Missense	7/8	-
17-28407207-G-T	EFCAB5	c.3145G>T	p.D1049Y	Missense	16/23	-
16-3640473-G-T	SLX4	c.3166C>A	p.L1056M	Missense	12/15	-
4-15964505-G-T	FGFBP2	c.248C>A	p.A83D	Missense	1/2	-
5-63871691-A-C	RGS7BP	c.423A>C	p.K141N	Missense	3/6	-
5-63871691-A-T	RGS7BP	c.423A>T	p.K141N	Missense	3/6	-
6-37336964-G-C	RNF8	c.945G>C	p.K315N	Missense	3/8	-
6-37336964-G-T	RNF8	c.945G>T	p.K315N	Missense	3/8	-
17-78092485-AG-CC	GAA	c.2680_2681delAGinsCC	p.S894P	Missense	19/20	-
10-124713550-G-C	C10orf88	c.145C>G	p.L49V	Missense	1/6	-
7-7278002-C-A	C1GALT1	c.337C>A	p.Q113K	Missense	3/4	-
11-56756944-G-C	OR5AK2	c.556G>C	p.A186P	Missense	1/1	-
15-75341533-T-C	PPCDC	c.572T>C	p.V191A	Missense	6/6	-
12-48213557-G-A	HDAC7	c.12C>T	p.P4=	Synonymous	1/26	-
12-48213557-G-C	HDAC7	c.12C>G	p.P4=	Synonymous	1/26	-
12-48213557-G-T	HDAC7	c.12C>A	p.P4=	Synonymous	1/26	-
16-11785244-C-A	TXNDC11	c.1802G>T	p.S601I	Missense	8/12	-
4-15964741-G-T	FGFBP2	c.12C>A	p.V4=	Synonymous	1/2	-
4-15964741-G-C	FGFBP2	c.12C>G	p.V4=	Synonymous	1/2	-
4-15964741-G-A	FGFBP2	c.12C>T	p.V4=	Synonymous	1/2	-
17-39316511-A-C	KRTAP4-4	c.433T>G	p.C145G	Missense	1/1	-
19-22497147-C-T	ZNF729	c.928C>T	p.H310Y	Missense	4/4	-
6-138656196-G-C	ARFGEF3	c.6213G>C	p.M2071I	Missense	33/34	-
6-138656196-G-A	ARFGEF3	c.6213G>A	p.M2071I	Missense	33/34	-
6-138656196-G-T	ARFGEF3	c.6213G>T	p.M2071I	Missense	33/34	-
7-73011723-G-C	MLXIPL	c.1392C>G	p.S464R	Missense	9/17	-
7-73011723-G-T	MLXIPL	c.1392C>A	p.S464R	Missense	9/17	-
7-73011725-T-G	MLXIPL	c.1390A>C	p.S464R	Missense	9/17	-
7-105893519-C-A	NAMPT	c.1309G>T	p.A437S	Missense	10/11	-
6-87796016-C-A	CGA	c.225G>T	p.K75N	Missense	3/4	-
17-29553492-C-G	NF1	c.2041C>G	p.R681G	Missense	18/58	-
10-118203922-G-T	PNLIPRP3	c.353G>T	p.C118F	Missense	4/12	-
11-27393917-A-T	LGR4	c.1408T>A	p.C470S	Missense	16/18	-
11-27393916-C-G	LGR4	c.1409G>C	p.C470S	Missense	16/18	-
15-49089523-G-A	CEP152	c.515C>T	p.S172L	Missense	5/27	-
17-8053426-C-A	PER1	c.392G>T	p.R131L	Missense	4/23	-
17-72350436-T-A	KIF19	c.2444T>A	p.L815Q	Missense	18/20	-
X-69458069-C-A	AWAT1	c.468C>A	p.C156*	Nonsense	5/7	-
19-58879520-G-C	ZNF837	c.1180C>G	p.P394A	Missense	3/3	-
1-152283519-G-C	FLG	c.3843C>G	p.D1281E	Missense	3/3	-
1-85656383-C-G	SYDE2	c.798G>C	p.E266D	Missense	2/7	-
1-85656383-C-A	SYDE2	c.798G>T	p.E266D	Missense	2/7	-
1-173493196-G-A	SLC9C2	c.2552C>T	p.P851L	Missense	21/28	-
1-235896924-C-G	LYST	c.8680G>C	p.V2894L	Missense	34/53	-
1-235896924-C-A	LYST	c.8680G>T	p.V2894L	Missense	34/53	-
2-136594529-A-G	LCT	c.211T>C	p.F71L	Missense	1/17	-
2-136594527-G-T	LCT	c.213C>A	p.F71L	Missense	1/17	-
2-136594527-G-C	LCT	c.213C>G	p.F71L	Missense	1/17	-
1-152283519-G-T	FLG	c.3843C>A	p.D1281E	Missense	3/3	-
7-107872807-TCC-CCA	NRCAM	c.388_390delGGAinsTGG	p.G130W	Missense	7/33	-
16-30735696-C-A	SRCAP	c.4951C>A	p.P1651T	Missense	25/34	-
12-48183322-C-A	HDAC7	c.2131G>T	p.D711Y	Missense	18/26	-
10-90681076-G-T	STAMBPL1	c.1078G>T	p.D360Y	Missense	9/11	-
12-12483824-G-T	MANSC1	c.433C>A	p.Q145K	Missense	4/4	-
16-30721397-CC-TG	SRCAP	c.1082_1083delCCinsTG	p.T361M	Missense	8/34	-
9-6328809-C-A	TPD52L3	c.214C>A	p.L72M	Missense	1/2	-
4-55971017-G-A	KDR	c.1780C>T	p.H594Y	Missense	13/30	-
5-63803601-G-C	RGS7BP	c.229G>C	p.V77L	Missense	2/6	-
7-48427470-G-C	ABCA13	c.11387G>C	p.W3796S	Missense	36/62	-
19-52570593-T-C	ZNF841	c.542A>G	p.E181G	Missense	7/7	-
2-128250930-C-T	IWS1	c.1856G>A	p.W619*	Nonsense	9/14	-
2-128250929-C-T	IWS1	c.1857G>A	p.W619*	Nonsense	9/14	-
20-60508096-A-G	CDH4	c.2293A>G	p.T765A	Missense	14/16	-
20-60697844-C-G	LSM14B	c.122C>G	p.A41G	Missense	1/9	-
9-127177128-A-G	PSMB7	c.149T>C	p.V50A	Missense	2/8	-
21-46086775-C-T	KRTAP12-2	c.29G>A	p.C10Y	Missense	1/1	-
22-43089092-C-A	A4GALT	c.866G>T	p.W289L	Missense	3/3	-
7-73753228-T-C	CLIP2	c.572T>C	p.V191A	Missense	3/17	-
22-43088995-GCT-TCA	A4GALT	c.961_963delAGCinsTGA	p.S321*	Nonsense	3/3	-
X-34148705-G-T	FAM47A	c.1691C>A	p.P564Q	Missense	1/1	-
8-53573828-C-T	RB1CC1	c.1372G>A	p.V458I	Missense	10/24	-
X-65242690-C-T	VSIG4	c.955G>A	p.A319T	Missense	7/8	-
X-69594043-A-G	KIF4A	c.1717A>G	p.K573E	Missense	16/31	-
X-119249616-C-T	RHOXF1	c.157G>A	p.G53S	Missense	1/3	-
1-201798416-G-T	IPO9	c.79G>T	p.D27Y	Missense	1/24	-
1-151503085-C-G	CGN	c.2434C>G	p.L812V	Missense	13/21	-
9-79929527-A-T	VPS13A	c.4359A>T	p.L1453F	Missense	37/72	-
9-79929527-A-C	VPS13A	c.4359A>C	p.L1453F	Missense	37/72	-
1-152084350-T-C	TCHH	c.1343A>G	p.K448R	Missense	3/3	-
1-152128149-T-C	RPTN	c.1426A>G	p.S476G	Missense	3/3	-
1-154923803-A-T	PBXIP1	c.314T>A	p.L105Q	Missense	5/11	-
1-155258207-C-G	HCN3	c.2278C>G	p.P760A	Missense	8/8	-
8-121530245-A-G	MTBP	c.2401A>G	p.K801E	Missense	19/22	-
1-173878890-G-C	SERPINC1	c.953C>G	p.P318R	Missense	5/7	-
8-116631829-C-G	TRPS1	c.496G>C	p.D166H	Missense	3/7	-
1-207297335-C-T	C4BPA	c.497C>T	p.P166L	Missense	5/12	-
1-212236268-G-A	DTL	c.503G>A	p.W168*	Nonsense	6/15	-
1-212236269-G-A	DTL	c.504G>A	p.W168*	Nonsense	6/15	-
8-53586614-C-T	RB1CC1	c.793G>A	p.V265M	Missense	7/24	-
2-39088369-C-T	DHX57	c.1183G>A	p.D395N	Missense	5/24	-
8-24324313-G-C	ADAM7	c.391G>C	p.G131R	Missense	6/22	-
19-52570196-TCT-ACA	ZNF841	c.937_939delAGAinsTGT	p.R313C	Missense	7/7	-
2-39095507-C-T	DHX57	c.41G>A	p.G14E	Missense	2/24	-
7-113519473-A-C	PPP1R3A	c.1674T>G	p.S558R	Missense	4/4	-
19-58773359-C-G	ZNF544	c.1387C>G	p.P463A	Missense	7/7	-
4-85708808-C-G	WDFY3	c.3728G>C	p.S1243T	Missense	23/68	-
1-201826284-TC-AA	IPO9	c.1183_1184delTCinsAA	p.S395N	Missense	11/24	-
7-113519473-A-T	PPP1R3A	c.1674T>A	p.S558R	Missense	4/4	-
7-113519475-T-G	PPP1R3A	c.1672A>C	p.S558R	Missense	4/4	-
X-119249459-G-A	RHOXF1	c.314C>T	p.T105I	Missense	1/3	-
7-88963050-C-A	ZNF804B	c.754C>A	p.P252T	Missense	4/4	-
2-219232236-C-G	CATIP	c.916C>G	p.R306G	Missense	9/10	-
1-55680532-GC-TT	USP24	c.254_255delGCinsAA	p.R85Q	Missense	1/68	-
7-73787262-A-G	CLIP2	c.1381A>G	p.T461A	Missense	9/17	-
11-26484681-A-T	ANO3	c.418A>T	p.T140S	Missense	4/27	-
1-55642071-C-T	USP24	c.536G>A	p.C179Y	Missense	3/68	-
3-37988581-G-A	CTDSPL	c.113G>A	p.R38K	Missense	2/8	-
3-122964788-G-T	SEC22A	c.584G>T	p.G195V	Missense	5/7	-
7-50135734-C-G	SPATA48	c.53C>G	p.S18C	Missense	1/9	-
4-57842876-G-C	NOA1	c.876C>G	p.D292E	Missense	1/7	-
4-57842876-G-T	NOA1	c.876C>A	p.D292E	Missense	1/7	-
4-85664920-T-A	WDFY3	c.6006A>T	p.Q2002H	Missense	37/68	-
5-145610253-G-A	RBM27	c.623G>A	p.R208K	Missense	6/21	-
6-90660691-C-A	BACH2	c.1134G>T	p.Q378H	Missense	7/9	-
6-90660691-C-G	BACH2	c.1134G>C	p.Q378H	Missense	7/9	-
11-62296161-A-G	AHNAK	c.5728T>C	p.F1910L	Missense	5/5	-
11-62296159-A-T	AHNAK	c.5730T>A	p.F1910L	Missense	5/5	-
11-62296159-A-C	AHNAK	c.5730T>G	p.F1910L	Missense	5/5	-
11-20968899-A-C	NELL1	c.1089A>C	p.K363N	Missense	11/20	-
11-20968899-A-T	NELL1	c.1089A>T	p.K363N	Missense	11/20	-
4-85664920-T-G	WDFY3	c.6006A>C	p.Q2002H	Missense	37/68	-
10-123845337-G-C	TACC2	c.3322G>C	p.A1108P	Missense	4/23	-
4-156849535-C-T	CTSO	c.884G>A	p.W295*	Nonsense	7/8	-
11-66061817-G-T	TMEM151A	c.100G>T	p.G34*	Nonsense	2/2	-
9-127177213-T-C	PSMB7	c.64A>G	p.N22D	Missense	2/8	-
9-102591072-AGG-TGT	NR4A3	c.748_750delAGGinsTGT	p.R250C	Missense	3/8	-
18-21269900-G-T	LAMA3	c.253G>T	p.V85F	Missense	1/75	-
11-118345030-G-T	KMT2A	c.3156G>T	p.Q1052H	Missense	3/36	-
11-118345030-G-C	KMT2A	c.3156G>C	p.Q1052H	Missense	3/36	-
6-107955690-G-T	SOBP	c.1642G>T	p.D548Y	Missense	6/7	-
17-30692357-C-A	ZNF207	c.679C>A	p.P227T	Missense	8/12	-
4-156849534-C-T	CTSO	c.885G>A	p.W295*	Nonsense	7/8	-
6-107854739-G-C	SOBP	c.498G>C	p.M166I	Missense	4/7	-
6-107854739-G-A	SOBP	c.498G>A	p.M166I	Missense	4/7	-
6-107854739-G-T	SOBP	c.498G>T	p.M166I	Missense	4/7	-
10-123846861-GGG-TGT	TACC2	c.4846_4848delGGGinsTGT	p.G1616C	Missense	4/23	-
9-127177693-C-T	PSMB7	c.12G>A	p.V4=	Synonymous	1/8	-
9-127177693-C-G	PSMB7	c.12G>C	p.V4=	Synonymous	1/8	-
9-127177693-C-A	PSMB7	c.12G>T	p.V4=	Synonymous	1/8	-
17-72353035-T-A	BTBD17	c.1198A>T	p.S400C	Missense	3/3	-
17-62041173-G-T	SCN4A	c.1465C>A	p.Q489K	Missense	10/24	-
10-123844078-G-T	TACC2	c.2063G>T	p.W688L	Missense	4/23	-
17-72352891-G-T	BTBD17	c.1342C>A	p.Q448K	Missense	3/3	-
X-65242270-ACT-TCA	VSIG4	c.1033_1035delAGTinsTGA	p.S345*	Nonsense	8/8	-
11-55927091-T-C	OR8K5	c.703A>G	p.K235E	Missense	1/1	-
14-77818076-T-A	TMED8	c.137A>T	p.N46I	Missense	2/6	-
8-642553-C-A	ERICH1	c.229G>T	p.G77C	Missense	3/6	-
10-94397270-G-A	KIF11	c.2128G>A	p.D710N	Missense	16/22	-
4-39322150-A-C	RFC1	c.948T>G	p.S316R	Missense	9/25	-
4-39322150-A-T	RFC1	c.948T>A	p.S316R	Missense	9/25	-
4-39322152-T-G	RFC1	c.946A>C	p.S316R	Missense	9/25	-
10-103454340-C-A	FBXW4	c.58G>T	p.A175S	Missense	1/9	-
4-48577151-GG-CT	FRYL	c.2828_2829delCCinsAG	p.T943K	Missense	25/64	-
11-3661502-G-C	ART5	c.157C>G	p.L53V	Missense	2/4	-
2-88926546-C-T	EIF2AK3	c.247G>A	p.G83R	Missense	1/17	-
2-88926546-C-G	EIF2AK3	c.247G>C	p.G83R	Missense	1/17	-
8-145664043-C-T	TONSL	c.1556G>A	p.G519E	Missense	12/26	-
1-204242793-G-C	PLEKHA6	c.63C>G	p.N21K	Missense	3/23	-
1-204242793-G-T	PLEKHA6	c.63C>A	p.N21K	Missense	3/23	-
17-51902183-G-T	KIF2B	c.1789G>T	p.E597*	Nonsense	1/1	-
17-57326125-CTG-TTT	GDPD1	c.346_348delCTGinsTTT	p.L116F	Missense	4/10	-
18-33283543-G-T	GALNT1	c.1469G>T	p.G490V	Missense	11/12	-
18-54359035-G-A	WDR7	c.953G>A	p.R318Q	Missense	9/28	-
21-40186226-A-C	ETS2	c.214A>C	p.T72P	Missense	4/10	-
7-113558321-C-T	PPP1R3A	c.731G>A	p.W244*	Nonsense	1/4	-
7-113558320-C-T	PPP1R3A	c.732G>A	p.W244*	Nonsense	1/4	-
22-19119187-T-G	TSSK2	c.275T>G	p.L92R	Missense	1/1	-
7-31015464-C-A	GHRHR	c.955C>A	p.H319N	Missense