PMID: 35449156

Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature communications

Shi, Xiaohan X, Li, Yunguang Y, Yuan, Qiuyue Q, Tang, Shijie S, Guo, Shiwei S, Zhang, Yehan Y, He, Juan J, Zhang, Xiaoyu X, Han, Ming M, Liu, Zhuang Z, Zhu, Yiqin Y, Gao, Suizhi S, Wang, Huan H, Xu, Xiongfei X, Zheng, Kailian K, Jing, Wei W, Chen, Luonan L, Wang, Yong Y, Jin, Gang G, Gao, Dong D

2022-04-21

3963 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
12-125398130-T-C	UBC	c.188A>G	p.K63R	Missense	2/2	-
5-112128143-C-T	APC	c.646C>T	p.R216*	Nonsense	7/16	-
22-42522940-C-T	CYP2D6	c.1228G>A	p.E410K	Missense	8/9	-
17-7578208-T-C	TP53	c.641A>G	p.H214R	Missense	6/11	-
17-7577105-G-A	TP53	c.833C>T	p.P278L	Missense	8/11	-
5-140594149-A-G	PCDHB13	c.454A>G	p.T152A	Missense	1/1	-
17-7577518-T-A	TP53	c.763A>T	p.I255F	Missense	7/11	-
17-7577124-C-G	TP53	c.814G>C	p.V272L	Missense	8/11	-
17-7577124-C-A	TP53	c.814G>T	p.V272L	Missense	8/11	-
17-7577118-C-A	TP53	c.820G>T	p.V274F	Missense	8/11	-
17-7578550-G-A	TP53	c.380C>T	p.S127F	Missense	5/11	-
17-7577556-C-A	TP53	c.725G>T	p.C242F	Missense	7/11	-
9-21971120-G-A	CDKN2A	c.238C>T	p.R80*	Nonsense	2/3	-
11-533874-T-C	HRAS	c.182A>G	p.Q61R	Missense	3/6	-
11-61727036-G-A	BEST1	c.934G>A	p.D312N	Missense	8/11	-
17-27579134-AGAG-A	CRYBA1	c.272_274delGAG	p.G91del	InFrameDeletion	4/6	-
17-7577557-A-G	TP53	c.724T>C	p.C242R	Missense	7/11	-
17-7578479-G-A	TP53	c.451C>T	p.P151S	Missense	5/11	-
17-7578393-A-T	TP53	c.537T>A	p.H179Q	Missense	5/11	-
17-7577105-G-C	TP53	c.833C>G	p.P278R	Missense	8/11	-
1-103481285-C-T	COL11A1	c.1427G>A	p.R476H	Missense	12/67	-
6-161781200-C-T	PRKN	c.1205G>A	p.R402H	Missense	11/12	-
17-7577108-C-A	TP53	c.830G>T	p.C277F	Missense	8/11	-
17-29588751-C-T	NF1	c.4600C>T	p.R1534*	Nonsense	35/58	-
17-7577114-C-A	TP53	c.824G>T	p.C275F	Missense	8/11	-
17-7578474-C-CG	TP53	c.455_455dup	p.P153Afs*28	Frameshift	5/11	-
17-7577146-TAG-T	TP53	c.790_791delCT	p.L264Tfs*7	Frameshift	8/11	-
17-72860400-G-A	FDXR	c.872C>T	p.A291V	Missense	9/12	-
5-90106411-C-T	ADGRV1	c.15334C>T	p.R5112C	Missense	74/90	-
5-89981639-C-T	ADGRV1	c.6317C>T	p.A2106V	Missense	29/90	-
19-10270737-G-T	DNMT1	c.1046C>A	p.T349K	Missense	15/41	-
5-70819984-G-A	BDP1	c.5606G>A	p.R1869Q	Missense	25/39	-
5-89949463-T-C	ADGRV1	c.4072T>C	p.S1358P	Missense	20/90	-
12-48380148-C-T	COL2A1	c.1498G>A	p.V500I	Missense	23/54	-
7-92136315-C-T	PEX1	c.1796G>A	p.G599E	Missense	10/24	-
10-73337684-G-A	CDH23	c.767G>A	p.R256H	Missense	9/70	-
20-61453508-G-A	COL9A3	c.469G>A	p.G157R	Missense	9/32	-
1-103461555-C-T	COL11A1	c.2285G>A	p.R762Q	Missense	27/67	-
12-49432737-C-T	KMT2D	c.8402G>A	p.R2801Q	Missense	35/55	-
12-15822723-T-C	EPS8	c.241A>G	p.M81V	Missense	5/21	-
10-8115834-G-A	GATA3	c.1183G>A	p.A395T	Missense	6/6	-
2-170042479-T-G	LRP2	c.9379A>C	p.T3127P	Missense	50/79	-
9-139091664-C-T	LHX3	c.314G>A	p.R105H	Missense	3/6	-
10-8115837-G-A	GATA3	c.1186G>A	p.A396T	Missense	6/6	-
16-21709120-C-T	OTOA	c.764C>T	p.A255V	Missense	10/29	-
19-50713854-G-T	MYH14	c.232G>T	p.A78S	Missense	2/43	-
3-45559431-G-A	LARS2	c.2081G>A	p.R694Q	Missense	18/22	-
11-76922236-C-T	MYO7A	c.6091C>T	p.R2031W	Missense	45/49	-
17-17701516-G-A	RAI1	c.5254G>A	p.G1752R	Missense	3/6	-
5-92929426-G-A	NR2F1	c.1150G>A	p.V384I	Missense	3/3	-
11-76892429-C-T	MYO7A	c.2698C>T	p.R900C	Missense	23/49	-
7-92119098-G-A	PEX1	c.3566C>T	p.T1189I	Missense	22/24	-
17-17701516-G-C	RAI1	c.5254G>C	p.G1752R	Missense	3/6	-
9-117848388-C-T	TNC	c.1622G>A	p.R541H	Missense	3/28	-
4-6296858-A-G	WFS1	c.803A>G	p.D268G	Missense	7/8	-
7-31815316-G-A	PDE1C	c.1922C>T	p.A641V	Missense	17/18	-
11-121000884-G-A	TECTA	c.2905G>A	p.V969M	Missense	10/24	-
11-121000582-C-T	TECTA	c.2603C>T	p.T868M	Missense	10/24	-
17-7578503-C-T	TP53	c.427G>A	p.V143M	Missense	5/11	-
18-48591919-G-A	SMAD4	c.1082G>A	p.R361H	Missense	9/12	-
2-166848437-G-A	SCN1A	c.5348C>T	p.A1783V	Missense	29/29	-
18-48575152-C-T	SMAD4	c.346C>T	p.Q116*	Nonsense	3/12	-
18-48604665-G-A	SMAD4	c.1487G>A	p.R496H	Missense	12/12	-
19-11132513-C-T	SMARCA4	c.2729C>T	p.T910M	Missense	19/35	-
15-74336633-T-C	PML	c.1933T>C	p.F645L	Missense	9/9	-
2-99013410-G-A	CNGA3	c.1777G>A	p.E593K	Missense	8/8	-
5-13845086-G-A	DNAH5	c.5131C>T	p.R1711*	Nonsense	32/79	-
17-7578395-G-C	TP53	c.535C>G	p.H179D	Missense	5/11	-
6-129621928-C-T	LAMA2	c.3085C>T	p.R1029*	Nonsense	22/65	-
17-7578222-TCT-CCA	TP53	c.625_627delAGAinsTGG	p.R209W	Missense	6/11	-
19-12995805-C-T	KLF1	c.983G>A	p.R328H	Missense	3/3	-
2-241808307-A-AC	AGXT	c.33_33dupC	p.K12Qfs*156	Frameshift	1/11	-
11-1780829-T-TG	CTSD	c.268_268dup	p.Q90Pfs*50	Frameshift	3/9	-
X-34148816-G-A	FAM47A	c.1580C>T	p.T527M	Missense	1/1	-
17-7577568-C-A	TP53	c.713G>T	p.C238F	Missense	7/11	-
17-7578419-C-A	TP53	c.511G>T	p.E171*	Nonsense	5/11	-
15-65621398-G-A	IGDCC3	c.2294C>T	p.T765M	Missense	14/14	-
5-31317975-C-T	CDH6	c.1826C>T	p.T609M	Missense	11/12	-
9-21971111-G-A	CDKN2A	c.247C>T	p.H83Y	Missense	2/3	-
19-58452914-C-T	ZNF256	c.1262G>A	p.R421H	Missense	3/3	-
17-7577138-CG-TA	TP53	c.799_800delCGinsTA	p.R267*	Nonsense	8/11	-
6-31964321-T-C	C4A	c.3620T>C	p.V1207A	Missense	28/41	-
17-7578409-CT-TA	TP53	c.520_521delAGinsTA	p.R174*	Nonsense	5/11	-
9-21970969-A-T	CDKN2A	c.389T>A	p.L130Q	Missense	2/3	-
19-19379464-G-A	TM6SF2	c.584C>T	p.A195V	Missense	6/10	-
9-136508616-G-A	DBH	c.826G>A	p.V276I	Missense	4/12	-
1-27101195-C-T	ARID1A	c.4477C>T	p.Q1493*	Nonsense	18/20	-
12-12630318-G-A	DUSP16	c.1447C>T	p.R483*	Nonsense	7/7	-
17-7578203-C-G	TP53	c.646G>C	p.V216L	Missense	6/11	-
17-7577127-C-T	TP53	c.811G>A	p.E271K	Missense	8/11	-
17-7578203-C-A	TP53	c.646G>T	p.V216L	Missense	6/11	-
20-44838982-G-A	CDH22	c.1250C>T	p.T417M	Missense	7/12	-
14-38061193-A-T	FOXA1	c.796T>A	p.F266I	Missense	2/2	-
15-75982072-G-A	CSPG4	c.1334C>T	p.A445V	Missense	3/10	-
14-52485857-C-T	NID2	c.2950G>A	p.V984M	Missense	14/22	-
4-96222841-C-T	UNC5C	c.406G>A	p.G136R	Missense	3/16	-
4-96222841-C-G	UNC5C	c.406G>C	p.G136R	Missense	3/16	-
11-5443900-C-T	OR51Q1	c.470C>T	p.A157V	Missense	1/1	-
14-105419314-T-G	AHNAK2	c.2474A>C	p.E825A	Missense	7/7	-
4-190876263-A-T	FRG1	c.389A>T	p.D130V	Missense	5/9	-
X-119243249-C-G	RHOXF1	c.456G>C	p.K152N	Missense	3/3	-
X-119243249-C-A	RHOXF1	c.456G>T	p.K152N	Missense	3/3	-
10-6520982-G-A	PRKCQ	c.1325C>T	p.T442M	Missense	12/18	-
1-158548903-C-T	OR10X1	c.787G>A	p.V263M	Missense	1/1	-
6-38548069-G-A	BTBD9	c.959C>T	p.S320F	Missense	5/11	-
2-75929513-C-T	GCFC2	c.431G>A	p.R144H	Missense	3/17	-
4-68939712-G-A	TMPRSS11F	c.298C>T	p.R100*	Nonsense	4/10	-
11-55579145-C-T	OR5L1	c.203C>T	p.S68F	Missense	1/1	-
1-149785205-G-A	H3C13	c.32C>T	p.S11L	Missense	1/1	-
7-119915782-G-A	KCND2	c.1096G>A	p.V366I	Missense	1/6	-
18-21735866-C-T	CABYR	c.401C>T	p.T134M	Missense	4/6	-
6-152722394-G-A	SYNE1	c.6908C>T	p.T2303M	Missense	47/146	-
19-40421537-G-A	FCGBP	c.2384C>T	p.P795L	Missense	5/36	-
14-23313078-A-G	MMP14	c.1010A>G	p.K337R	Missense	6/10	-
6-155574094-C-T	TIAM2	c.4132C>T	p.R1378W	Missense	24/27	-
1-176833571-C-T	ASTN1	c.3734G>A	p.R1245H	Missense	23/23	-
7-143964243-C-T	CTAGE8	c.2101G>A	p.V701I	Missense	1/1	-
7-153750014-G-A	DPP6	c.109G>A	p.G37S	Missense	1/26	-
19-36349319-G-A	KIRREL2	c.221G>A	p.R74Q	Missense	3/15	-
6-152784642-C-T	SYNE1	c.1943G>A	p.R648Q	Missense	19/146	-
17-39262047-A-G	KRTAP4-9	c.407A>G	p.K136R	Missense	1/1	-
6-137365792-G-A	IL20RA	c.74C>T	p.P25L	Missense	1/7	-
1-204588916-C-T	LRRN2	c.205G>A	p.A69T	Missense	2/2	-
11-1271333-C-T	MUC5B	c.13223C>T	p.T4408M	Missense	31/49	-
1-152192259-T-C	HRNR	c.1846A>G	p.T616A	Missense	3/3	-
3-62254711-G-A	PTPRG	c.2876G>A	p.R959Q	Missense	20/30	-
17-58286832-G-A	USP32	c.2497C>T	p.L833F	Missense	22/34	-
18-48603032-C-T	SMAD4	c.1333C>T	p.R445*	Nonsense	11/12	-
15-75982312-C-T	CSPG4	c.1094G>A	p.R365Q	Missense	3/10	-
17-7578223-CT-TG	TP53	c.625_626delAGinsCA	p.R209Q	Missense	6/11	-
5-10973590-G-A	CTNND2	c.3653C>T	p.P1218L	Missense	22/22	-
17-39262083-A-C	KRTAP4-9	c.443A>C	p.N148T	Missense	1/1	-
17-39262247-T-G	KRTAP4-9	c.607T>G	p.L203V	Missense	1/1	-
17-39274020-C-G	KRTAP4-11	c.548G>C	p.S183T	Missense	1/1	-
5-155771587-G-A	SGCD	c.92G>A	p.R31Q	Missense	3/9	-
2-70315174-T-C	PCBP1	c.299T>C	p.L100P	Missense	1/1	-
17-10212612-C-T	MYH13	c.5108G>A	p.R1703H	Missense	35/41	-
3-54786653-C-T	CACNA2D3	c.1195C>T	p.R399*	Nonsense	12/38	-
9-21971194-C-T	CDKN2A	c.164G>A	p.G55D	Missense	2/3	-
7-20825145-GGCAGCCGCGGCTGCTGCCGCGGCCGCC-G	SP8	c.264_290del27	p.A91_A99del	InFrameDeletion	2/2	-
16-71025246-G-A	HYDIN	c.3839C>T	p.T1280M	Missense	25/86	-
11-49080610-C-T	TRIM64C	c.55G>A	p.V19M	Missense	1/6	-
17-45663749-G-A	NPEPPS	c.965G>A	p.G322D	Missense	8/23	-
21-46066487-G-A	KRTAP10-11	c.112G>A	p.A38T	Missense	1/1	-
10-7679284-C-T	ITIH5	c.559G>A	p.V187M	Missense	5/15	-
16-66966117-C-T	CIAO2B	c.481G>A	p.A161T	Missense	5/5	-
17-7578423-C-CA	TP53	c.506_506dupT	p.M169Ifs*12	Frameshift	5/11	-
9-21974695-G-C	CDKN2A	c.132C>G	p.Y44*	Nonsense	1/3	-
1-247695752-C-T	OR2C3	c.62G>A	p.R21Q	Missense	2/2	-
17-7578474-CG-C	TP53	c.455delC	p.P152Rfs*18	Frameshift	5/11	-
15-85438333-G-A	SLC28A1	c.440G>A	p.R147H	Missense	6/19	-
3-100447604-G-A	TFG	c.317G>A	p.R106H	Missense	4/8	-
20-57766574-C-T	ZNF831	c.500C>T	p.T167M	Missense	2/6	-
17-7578397-TG-T	TP53	c.532delC	p.H178Tfs*69	Frameshift	5/11	-
17-7578379-AT-A	TP53	c.551delA	p.D184Vfs*63	Frameshift	5/11	-
3-30691871-G-GA	TGFBR2	c.383_383dupA	p.P129Afs*3	Frameshift	3/7	-
2-215831608-G-A	ABCA12	c.5848C>T	p.R1950*	Nonsense	39/53	-
17-7578246-C-CA	TP53	c.602dupT	p.L201Ffs*8	Frameshift	6/11	-
17-7577578-T-C	TP53	c.703A>G	p.N235D	Missense	7/11	-
8-133894127-A-G	TG	c.658A>G	p.T220A	Missense	6/48	-
17-7579320-TCA-T	TP53	c.365_366delTG	p.V122Dfs*26	Frameshift	4/11	-
3-38622727-G-A	SCN5A	c.2923C>T	p.R975W	Missense	17/28	-
9-21974783-C-T	CDKN2A	c.44G>A	p.W15*	Nonsense	1/3	-
9-21974782-C-T	CDKN2A	c.45G>A	p.W15*	Nonsense	1/3	-
9-21971116-G-A	CDKN2A	c.242C>T	p.P81L	Missense	2/3	-
18-48591807-T-C	SMAD4	c.970T>C	p.C324R	Missense	9/12	-
9-21971108-C-A	CDKN2A	c.250G>T	p.D84Y	Missense	2/3	-
1-229568315-C-T	ACTA1	c.442G>A	p.G148S	Missense	3/7	-
17-7572980-T-C	TP53	c.1129A>G	p.T377A	Missense	11/11	-
4-187120130-C-T	CYP4V2	c.694C>T	p.R232*	Nonsense	6/11	-
8-29194830-G-A	DUSP4	c.898C>T	p.R300W	Missense	4/4	-
9-21970971-G-T	CDKN2A	c.387C>A	p.Y129*	Nonsense	2/3	-
9-21970971-G-C	CDKN2A	c.387C>G	p.Y129*	Nonsense	2/3	-
18-48603080-C-T	SMAD4	c.1381C>T	p.Q461*	Nonsense	11/12	-
15-75982085-C-T	CSPG4	c.1321G>A	p.E441K	Missense	3/10	-
7-151962290-C-G	KMT2C	c.1017G>C	p.K339N	Missense	8/59	-
7-151962290-C-A	KMT2C	c.1017G>T	p.K339N	Missense	8/59	-
7-6035185-G-A	PMS2	c.883C>T	p.R295W	Missense	8/15	-
3-38601865-C-T	SCN5A	c.4015G>A	p.V1339I	Missense	23/28	-
5-90001325-C-A	ADGRV1	c.8495C>A	p.S2832*	Nonsense	37/90	-
5-90001325-C-G	ADGRV1	c.8495C>G	p.S2832*	Nonsense	37/90	-
2-1670256-G-A	PXDN	c.1021C>T	p.R341*	Nonsense	10/23	-
11-22296266-C-T	ANO5	c.2387C>T	p.S796L	Missense	20/22	-
15-33446662-T-A	FMN1	c.454A>T	p.S152C	Missense	4/21	-
2-212812259-C-T	ERBB4	c.317G>A	p.R106H	Missense	3/28	-
5-1294163-C-T	TERT	c.838G>A	p.E280K	Missense	2/16	-
19-38948162-G-A	RYR1	c.1817G>A	p.C606Y	Missense	17/106	-
X-70444215-C-T	GJB1	c.658C>T	p.R220*	Nonsense	2/2	-
1-27100988-C-T	ARID1A	c.4270C>T	p.Q1424*	Nonsense	18/20	-
7-150649809-T-C	KCNH2	c.1261A>G	p.T421A	Missense	6/15	-
3-141231040-C-T	RASA2	c.169C>T	p.H57Y	Missense	2/24	-
3-30729968-C-T	TGFBR2	c.1489C>T	p.R497*	Nonsense	6/7	-
8-82626245-G-A	ZFAND1	c.388C>T	p.R130*	Nonsense	6/8	-
10-37447451-G-A	ANKRD30A	c.1837G>A	p.G613R	Missense	15/36	-
7-151962168-C-A	KMT2C	c.1139G>T	p.R380L	Missense	8/59	-
12-52387796-C-T	ACVR1B	c.1420C>T	p.R474*	Nonsense	9/9	-
9-136199412-C-T	SURF6	c.578G>A	p.R193Q	Missense	4/5	-
3-134968251-G-A	EPHB1	c.2764G>A	p.A922T	Missense	15/16	-
6-30652781-C-G	PPP1R18	c.1015G>C	p.G339R	Missense	1/3	-
6-30652781-C-T	PPP1R18	c.1015G>A	p.G339R	Missense	1/3	-
11-117301521-C-T	DSCAML1	c.5783G>A	p.R1868H	Missense	32/33	-
9-21974776-GGCCA-G	CDKN2A	c.47_50delTGGC	p.L16Pfs*9	Frameshift	1/3	-
2-3727534-C-T	ALLC	c.248C>T	p.T83M	Missense	5/12	-
12-95397373-G-GA	NDUFA12	c.83_83dup	p.R29Qfs*4	Frameshift	1/4	-
1-158627418-C-T	SPTA1	c.2654G>A	p.R885H	Missense	19/52	-
5-71756236-C-T	ZNF366	c.1088G>A	p.R363H	Missense	2/5	-
7-21750214-C-T	DNAH11	c.6727C>T	p.R2243*	Nonsense	41/82	-
2-218947960-C-T	RUFY4	c.1483C>T	p.R495W	Missense	11/13	-
16-68710353-C-T	CDH3	c.226C>T	p.R76W	Missense	3/16	-
4-122835949-C-T	TRPC3	c.1327G>A	p.A443T	Missense	4/12	-
4-38798159-C-T	TLR1	c.2294G>A	p.R765H	Missense	4/4	-
9-21974762-CCG-C	CDKN2A	c.64_65delCG	p.R22Gfs*21	Frameshift	1/3	-
1-175046835-C-T	TNN	c.281C>T	p.T94M	Missense	2/19	-
12-124422003-C-T	CCDC92	c.598G>A	p.E200K	Missense	5/5	-
1-53553884-C-T	SLC1A7	c.1480G>A	p.E494K	Missense	11/11	-
12-123200189-A-C	HCAR3	c.1096T>G	p.S366A	Missense	1/1	-
10-85981738-C-T	LRIT2	c.1591G>A	p.G531S	Missense	3/3	-
12-33529823-G-A	SYT10	c.1514C>T	p.A505V	Missense	7/7	-
10-118893548-C-T	VAX1	c.976G>A	p.E326K	Missense	3/3	-
12-108985468-G-A	TMEM119	c.692C>T	p.A231V	Missense	2/2	-
1-161160956-C-T	ADAMTS4	c.2486G>A	p.R829Q	Missense	9/9	-
16-30750591-G-A	SRCAP	c.9230G>A	p.R3077Q	Missense	34/34	-
16-15045628-T-C	NPIPA1	c.799T>C	p.S267P	Missense	8/8	-
12-41967450-C-T	PDZRN4	c.2869C>T	p.R957C	Missense	10/10	-
12-81205324-G-A	LIN7A	c.622C>T	p.R208C	Missense	5/6	-
10-71332310-C-T	NEUROG3	c.490G>A	p.G164S	Missense	2/2	-
11-1959705-G-A	TNNT3	c.760G>A	p.G254S	Missense	16/16	-
17-61895724-C-T	DDX42	c.2783C>T	p.P928L	Missense	18/18	-
19-971997-G-A	ARID3A	c.1714G>A	p.G572S	Missense	9/9	-
17-55943851-C-T	CUEDC1	c.1148G>A	p.R383Q	Missense	10/11	-
19-31040308-C-T	ZNF536	c.3782C>T	p.P1261L	Missense	4/5	-
15-79587041-C-T	ANKRD34C	c.1415C>T	p.P472L	Missense	2/2	-
14-29237876-C-T	FOXG1	c.1391C>T	p.T464M	Missense	1/1	-
17-72948430-G-A	HID1	c.2078C>T	p.P693L	Missense	17/19	-
17-21319862-G-T	KCNJ12	c.1208G>T	p.G403V	Missense	3/3	-
2-73160955-C-T	EMX1	c.745C>T	p.R249W	Missense	3/3	-
19-55377875-C-G	KIR3DL2	c.1156C>G	p.Q386E	Missense	8/9	-
19-55877455-C-T	IL11	c.520G>A	p.A174T	Missense	5/5	-
19-46376294-G-A	FOXA3	c.1031G>A	p.R344H	Missense	2/2	-
17-74003402-C-T	EVPL	c.5884G>A	p.G1962R	Missense	22/22	-
22-39126644-C-T	GTPBP1	c.1945C>T	p.R649*	Nonsense	12/12	-
3-149245639-C-T	WWTR1	c.889G>A	p.D297N	Missense	5/7	-
18-5395676-C-T	EPB41L3	c.3004G>A	p.V1002M	Missense	20/23	-
4-1073468-G-A	RNF212	c.473C>T	p.S158L	Missense	8/10	-
20-58444912-G-A	SYCP2	c.3682C>T	p.R1228W	Missense	36/45	-
20-4837625-G-A	SLC23A2	c.1946C>T	p.T649M	Missense	17/17	-
2-239147569-C-T	HES6	c.574G>A	p.E192K	Missense	4/4	-
3-126749143-C-T	PLXNA1	c.5119C>T	p.R1707W	Missense	29/32	-
3-51737868-G-A	TEX264	c.778G>A	p.E260K	Missense	5/5	-
21-15599593-TAAG-T	RBM11	c.834_836delGAA	p.K279del	InFrameDeletion	5/5	-
8-68112705-C-T	ARFGEF1	c.5311G>A	p.E1771K	Missense	38/39	-
4-119952742-C-T	SYNPO2	c.2812C>T	p.L938F	Missense	4/5	-
20-23017249-C-T	SSTR4	c.1129C>T	p.R377C	Missense	1/1	-
5-88018677-T-C	MEF2C	c.1166A>G	p.N389S	Missense	11/11	-
20-30072156-C-T	REM1	c.820C>T	p.R274C	Missense	5/5	-
9-139934313-C-T	NPDC1	c.889G>A	p.G297R	Missense	9/9	-
7-128852242-C-T	SMO	c.2314C>T	p.R772C	Missense	12/12	-
8-105393500-C-T	DPYS	c.1486G>A	p.E496K	Missense	9/10	-
8-69136828-G-A	PREX2	c.4742G>A	p.G1581E	Missense	39/40	-
6-31777883-C-T	HSPA1L	c.1867G>A	p.G623R	Missense	2/2	-
5-169291341-G-A	INSYN2B	c.1544C>T	p.P515L	Missense	4/4	-
5-140574499-C-T	PCDHB10	c.2374C>T	p.R792*	Nonsense	1/1	-
20-2312717-C-T	TGM3	c.1403C>T	p.A468V	Missense	10/13	-
X-153609365-GTCC-G	EMD	c.579_581delCTC	p.S199del	InFrameDeletion	6/6	-
9-5233789-G-A	INSL4	c.332G>A	p.R111H	Missense	2/2	-
17-7576862-G-GA	TP53	c.983_983dup	p.T329Hfs*8	Frameshift	9/11	-
17-7576918-TG-T	TP53	c.927delC	p.N310Tfs*35	Frameshift	9/11	-
3-10114944-A-C	FANCD2	c.2613A>C	p.K871N	Missense	28/44	-
14-105055043-C-T	C14orf180	c.406C>T	p.R136W	Missense	5/5	-
8-87751950-AC-A	CNGB3	c.143delG	p.G48Vfs*35	Frameshift	2/18	-
2-112614384-C-G	ANAPC1	c.1438G>C	p.A480P	Missense	12/48	-
17-7577524-T-G	TP53	c.757A>C	p.T253P	Missense	7/11	-
2-233388527-A-AC	PRSS56	c.1066_1066dupC	p.Q356Pfs*152	Frameshift	9/13	-
17-7579559-A-T	TP53	c.128T>A	p.L43*	Nonsense	4/11	-
7-92077209-G-A	GATAD1	c.166G>A	p.G56S	Missense	1/5	-
6-74155392-G-A	CGAS	c.736C>T	p.R246C	Missense	2/5	-
12-52867233-C-T	KRT6C	c.289G>A	p.G97R	Missense	1/9	-
11-89819149-C-G	UBTFL1	c.32C>G	p.S11C	Missense	1/1	-
21-19713763-T-G	TMPRSS15	c.1531A>C	p.T511P	Missense	13/25	-
5-153026538-C-T	GRIA1	c.271C>T	p.R91C	Missense	3/16	-
1-16456905-C-G	EPHA2	c.2485G>C	p.A829P	Missense	15/17	-
17-7578537-TGTTGAGGGCAGGGGAGTA-T	TP53	c.376_393del18	p.Y126_N131del	SpliceAcceptorDeletion	5/11	-
13-32910635-G-A	BRCA2	c.2143G>A	p.G715R	Missense	11/27	-
13-32910635-G-C	BRCA2	c.2143G>C	p.G715R	Missense	11/27	-
17-7577085-C-CT	TP53	c.852_852dup	p.E285Rfs*21	Frameshift	8/11	-
15-88678509-G-A	NTRK3	c.1027C>T	p.R343W	Missense	10/20	-
1-12854311-C-T	PRAMEF1	c.535C>T	p.H179Y	Missense	3/4	-
12-57603939-G-GC	LRP1	c.12575_12575dup	p.D4193Rfs*9	Frameshift	81/89	-
1-27092737-C-T	ARID1A	c.2758C>T	p.Q920*	Nonsense	9/20	-
8-10469116-G-A	RP1L1	c.2492C>T	p.T831M	Missense	4/4	-
8-101721932-CT-C	PABPC1	c.999delA	p.F335Lfs*19	Frameshift	8/15	-
7-141418905-C-T	WEE2	c.619C>T	p.R207C	Missense	4/12	-
19-11141552-G-A	SMARCA4	c.3529G>A	p.D1177N	Missense	25/35	-
18-48604749-G-A	SMAD4	c.1571G>A	p.W524*	Nonsense	12/12	-
11-33053108-G-A	DEPDC7	c.967G>A	p.V323I	Missense	5/9	-
19-47575305-CGCCCATTGGCCCTGGGGGTCCCATGTTGGGCCCAGG-C	ZC3H4	c.1840_1875del36	p.P614_G625del	InFrameDeletion	13/15	-
9-21974695-G-T	CDKN2A	c.132C>A	p.Y44*	Nonsense	1/3	-
18-48604750-G-A	SMAD4	c.1572G>A	p.W524*	Nonsense	12/12	-
18-48591925-G-A	SMAD4	c.1088G>A	p.C363Y	Missense	9/12	-
1-152286041-C-T	FLG	c.1321G>A	p.G441R	Missense	3/3	-
1-152286041-C-G	FLG	c.1321G>C	p.G441R	Missense	3/3	-
1-185985120-C-T	HMCN1	c.4940C>T	p.T1647M	Missense	32/107	-
18-48604706-G-A	SMAD4	c.1528G>A	p.G510R	Missense	12/12	-
18-48604706-G-C	SMAD4	c.1528G>C	p.G510R	Missense	12/12	-
1-152283701-G-A	FLG	c.3661C>T	p.R1221C	Missense	3/3	-
1-186143745-G-A	HMCN1	c.15914G>A	p.R5305Q	Missense	103/107	-
1-237580390-G-A	RYR2	c.815G>A	p.R272H	Missense	11/105	-
22-50718141-G-A	PLXNB2	c.4307C>T	p.P1436L	Missense	27/37	-
19-11217304-G-A	LDLR	c.758G>A	p.R253Q	Missense	5/18	-
1-236920871-C-T	ACTN2	c.2240C>T	p.A747V	Missense	18/21	-
14-24113702-C-T	DHRS2	c.625C>T	p.R209W	Missense	7/9	-
8-59520366-G-A	NSMAF	c.721C>T	p.R241C	Missense	11/31	-
3-168818709-C-T	MECOM	c.2813G>A	p.R938Q	Missense	12/17	-
3-39230773-C-T	XIRP1	c.164G>A	p.R55H	Missense	2/2	-
X-32663202-C-T	DMD	c.1028G>A	p.R343H	Missense	10/79	-
12-109286790-G-A	DAO	c.485G>A	p.R162Q	Missense	6/11	-
7-6035188-G-A	PMS2	c.880C>T	p.R294W	Missense	8/15	-
5-71756479-G-A	ZNF366	c.845C>T	p.A282V	Missense	2/5	-
1-236906269-G-A	ACTN2	c.1181G>A	p.R394Q	Missense	11/21	-
10-73767717-C-T	CHST3	c.928C>T	p.R310C	Missense	3/3	-
20-61442845-G-A	OGFR	c.497G>A	p.R166Q	Missense	6/7	-
8-101719201-A-G	PABPC1	c.1361T>C	p.I454T	Missense	10/15	-
18-63547669-C-T	CDH7	c.1897C>T	p.R633W	Missense	12/12	-
14-105415643-T-C	AHNAK2	c.6145A>G	p.T2049A	Missense	7/7	-
1-152382590-C-T	CRNN	c.968G>A	p.G323D	Missense	3/3	-
1-152382600-A-C	CRNN	c.958T>G	p.S320A	Missense	3/3	-
6-26468545-G-C	BTN2A1	c.1352G>C	p.G451A	Missense	8/8	-
2-225266235-C-T	FAM124B	c.251G>A	p.R84H	Missense	1/2	-
19-16860396-C-T	NWD1	c.943C>T	p.R315C	Missense	6/19	-
22-23917235-T-C	IGLL1	c.241A>G	p.R81G	Missense	2/3	-
19-1440068-G-C	RPS15	c.140G>C	p.R47P	Missense	3/4	-
17-49710908-C-T	CA10	c.893G>A	p.R298H	Missense	8/9	-
4-94376877-C-T	GRID2	c.1610C>T	p.T537M	Missense	11/16	-
12-15654736-G-A	PTPRO	c.844G>A	p.G282S	Missense	5/27	-
3-151463409-C-T	AADACL2	c.544C>T	p.R182*	Nonsense	4/5	-
6-35428390-C-T	FANCE	c.1378C>T	p.R460W	Missense	8/10	-
18-48604754-G-A	SMAD4	c.1576G>A	p.E526K	Missense	12/12	-
19-54314479-G-A	NLRP12	c.434C>T	p.A145V	Missense	3/10	-
2-96798440-C-T	ASTL	c.476G>A	p.R159H	Missense	6/9	-
10-93797-C-T	TUBB8	c.535G>A	p.V179M	Missense	4/4	-
11-6644994-C-T	DCHS1	c.7913G>A	p.R2638H	Missense	21/21	-
9-21971023-C-G	CDKN2A	c.335G>C	p.R112P	Missense	2/3	-
5-15936669-GTG-ATC	FBXL7	c.850_852delGTGinsATC	p.V284I	Missense	4/4	-
5-15936810-G-A	FBXL7	c.991G>A	p.V331I	Missense	4/4	-
3-10114944-A-T	FANCD2	c.2613A>T	p.K871N	Missense	28/44	-
12-49580154-C-T	TUBA1A	c.314G>A	p.R105Q	Missense	3/4	-
4-115767059-G-A	NDST4	c.2035C>T	p.R679*	Nonsense	10/14	-
17-39659673-G-A	KRT13	c.601C>T	p.R201C	Missense	3/8	-
11-1249968-C-T	MUC5B	c.949C>T	p.R317W	Missense	8/49	-
3-195512455-G-T	MUC4	c.5996C>A	p.T1999N	Missense	2/25	-
13-23912863-AT-A	SACS	c.5151delA	p.K1717Nfs*8	Frameshift	10/10	-
3-52819189-G-A	ITIH1	c.1537G>A	p.G513R	Missense	12/22	-
3-52819189-G-C	ITIH1	c.1537G>C	p.G513R	Missense	12/22	-
19-15281331-G-A	NOTCH3	c.4925C>T	p.P1642L	Missense	27/33	-
7-82585276-G-A	PCLO	c.4993C>T	p.R1665C	Missense	5/25	-
1-180366665-C-T	ACBD6	c.649G>A	p.D217N	Missense	6/8	-
12-6964920-A-G	USP5	c.239A>G	p.K80R	Missense	3/20	-
14-75421872-T-TG	PGF	c.73dupC	p.Q25Pfs*66	SpliceDonorInsertion	1/7	-
11-121037336-G-C	TECTA	c.5433G>C	p.M1811I	Missense	18/24	-
11-121037336-G-A	TECTA	c.5433G>A	p.M1811I	Missense	18/24	-
11-121037336-G-T	TECTA	c.5433G>T	p.M1811I	Missense	18/24	-
9-21974744-ACCT-A	CDKN2A	c.80_82delAGG	p.E27del	InFrameDeletion	1/3	-
13-58298964-C-T	PCDH17	c.3016C>T	p.R1006*	Nonsense	4/4	-
3-180359823-G-A	CCDC39	c.1832C>T	p.A611V	Missense	13/20	-
19-58565342-G-A	ZSCAN1	c.1150G>A	p.V384I	Missense	6/6	-
8-32585491-C-T	NRG1	c.527C>T	p.T176I	Missense	6/12	-
3-49722905-T-TG	MST1	c.1421_1421dup	p.D475Rfs*6	Frameshift	12/18	-
12-117914399-G-A	KSR2	c.2452C>T	p.R818W	missense_variant,splice_region_variant	17/20	-
2-130951730-G-A	TUBA3E	c.685C>T	p.R229C	Missense	4/5	-
9-130075749-G-A	GARNL3	c.349G>A	p.E117K	Missense	4/28	-
19-9577543-G-A	ZNF560	c.2080C>T	p.R694*	Nonsense	10/10	-
6-106696069-C-G	ATG5	c.529G>C	p.A177P	Missense	6/8	-
2-220283506-G-A	DES	c.322G>A	p.E108K	Missense	1/9	-
5-130840423-C-T	RAPGEF6	c.1150G>A	p.E384K	Missense	11/28	-
16-71683236-T-C	PHLPP2	c.3529A>G	p.R1177G	Missense	19/19	-
3-55504242-C-T	WNT5A	c.1021G>A	p.G341S	Missense	5/5	-
5-45353296-C-T	HCN1	c.1283G>A	p.R428H	Missense	5/8	-
5-13737516-C-T	DNAH5	c.11300G>A	p.R3767H	Missense	66/79	-
15-26812851-G-A	GABRB3	c.712C>T	p.R238W	Missense	7/9	-
7-45956889-G-A	IGFBP3	c.553C>T	p.R185C	Missense	2/5	-
19-22155029-T-G	ZNF208	c.2807A>C	p.K936T	Missense	4/4	-
16-24366271-C-T	CACNG3	c.413C>T	p.A138V	Missense	3/4	-
19-57327109-G-A	PEG3	c.2701C>T	p.R901C	Missense	10/10	-
12-113348909-G-A	OAS1	c.523G>A	p.E175K	Missense	3/6	-
2-220337744-G-A	SPEG	c.4073G>A	p.R1358Q	Missense	16/41	-
1-87040226-G-A	CLCA4	c.1471G>A	p.E491K	Missense	10/14	-
17-48068985-C-T	DLX3	c.760G>A	p.A254T	Missense	3/3	-
14-33292180-C-T	AKAP6	c.5161C>T	p.R1721C	Missense	13/14	-
1-76877919-C-T	ST6GALNAC3	c.440C>T	p.A147V	Missense	3/5	-
19-17015101-C-T	CPAMD8	c.4327G>A	p.A1396T	Missense	32/42	-
15-75047341-A-T	CYP1A2	c.1463A>T	p.K488I	Missense	7/7	-
6-43618212-G-A	RSPH9	c.328G>A	p.E110K	Missense	2/5	-
8-70550817-C-A	SULF1	c.2365C>A	p.L789I	Missense	20/23	-
1-196250003-A-C	KCNT2	c.2897T>G	p.L966R	Missense	25/28	-
19-9024948-C-T	MUC16	c.36914G>A	p.R12305H	Missense	16/84	-
7-70853279-G-A	GALNT17	c.481G>A	p.V161M	Missense	3/11	-
5-140711018-C-T	PCDHGA1	c.767C>T	p.P256L	Missense	1/4	-
5-7802364-G-A	ADCY2	c.2662G>A	p.V888I	Missense	21/25	-
10-96805608-C-T	CYP2C8	c.920G>A	p.R307K	Missense	6/9	-
10-12595237-G-A	CAMK1D	c.106G>A	p.E36K	Missense	2/11	-
11-77907439-G-A	USP35	c.148G>A	p.V50M	Missense	2/11	-
2-70923459-C-T	ADD2	c.392G>A	p.R131Q	Missense	5/16	-
16-55883652-C-T	CES5A	c.1307G>A	p.R436Q	Missense	11/13	-
X-24597510-G-A	PCYT1B	c.631C>T	p.R211C	Missense	6/8	-
19-12936650-GA-AG	RTBDN	c.589_590delTCinsCT	p.S187L	Missense	6/6	-
10-50530877-C-T	C10orf71	c.287C>T	p.A96V	Missense	3/3	-
11-126314964-C-T	KIRREL3	c.1162G>A	p.V388M	Missense	10/17	-
5-22078634-C-T	CDH12	c.152G>A	p.R51H	Missense	5/15	-
8-133925470-A-C	TG	c.4338A>C	p.Q1446H	Missense	20/48	-
14-103447198-C-T	CDC42BPB	c.1052G>A	p.R351Q	Missense	8/37	-
1-240255882-C-T	FMN2	c.473C>T	p.P158L	Missense	1/18	-
20-55803346-G-A	BMP7	c.550C>T	p.R184C	Missense	2/7	-
19-15061191-C-T	SLC1A6	c.1511G>A	p.R504H	Missense	10/10	-
4-5624286-G-A	EVC2	c.2479C>T	p.R827C	Missense	14/22	-
2-169997024-T-TG	LRP2	c.13139_13139dup	p.C4381Mfs*12	Frameshift	72/79	-
18-48604762-CT-C	SMAD4	c.1586delT	p.L529Yfs*8	Frameshift	12/12	-
19-55815035-A-AC	BRSK1	c.1135dupC	p.R379Pfs*54	Frameshift	12/19	-
2-220494110-G-GC	SLC4A3	c.469_469dup	p.H157Pfs*15	Frameshift	4/23	-
2-26203574-G-A	KIF3C	c.1213C>T	p.R405W	Missense	1/8	-
18-48573495-AGA-CAT	SMAD4	c.79_81delAGAinsCAT	p.R27H	Missense	2/12	-
13-32912324-CAT-C	BRCA2	c.3834_3835delTA	p.H1278Qfs*2	Frameshift	11/27	-
1-107691421-A-G	NTNG1	c.206A>G	p.D69G	Missense	2/8	-
15-48714160-G-A	FBN1	c.7559C>T	p.T2520M	Missense	61/66	-
14-20296385-C-T	OR4N2	c.778C>T	p.R260C	Missense	2/2	-
3-55508583-C-T	WNT5A	c.466G>A	p.E156K	Missense	4/5	-
18-6999522-C-T	LAMA1	c.4585G>A	p.V1529I	Missense	32/63	-
13-37679042-C-T	CSNK1A1L	c.352G>A	p.D118N	Missense	1/1	-
2-242689643-G-A	D2HGDH	c.931G>A	p.E311K	Missense	7/10	-
19-31025808-G-A	ZNF536	c.2225G>A	p.R742H	Missense	3/5	-
8-52567280-C-T	PXDNL	c.205G>A	p.A69T	Missense	2/23	-
11-56237300-C-T	OR5M3	c.674G>A	p.R225Q	Missense	2/2	-
4-26432382-G-A	RBPJ	c.1217G>A	p.R406Q	Missense	11/11	-
17-41719330-T-C	MEOX1	c.713A>G	p.N238S	Missense	3/3	-
17-17109476-A-G	PLD6	c.125T>C	p.L42P	Missense	1/2	-
17-29508461-C-T	NF1	c.608C>T	p.A203V	Missense	6/58	-
11-62296271-G-A	AHNAK	c.5618C>T	p.A1873V	Missense	5/5	-
17-72736931-G-A	RAB37	c.118G>A	p.V40I	Missense	2/9	-
5-23526887-A-C	PRDM9	c.1690A>C	p.K564Q	Missense	11/11	-
20-36954790-G-A	BPI	c.1117G>A	p.V373I	missense_variant	10/15	-
16-31419145-C-T	ITGAD	c.917C>T	p.A306V	Missense	9/30	-
20-2464043-T-C	ZNF343	c.1564A>G	p.I522V	Missense	6/6	-
6-31963559-A-G	C4A	c.3218A>G	p.D1073G	Missense	25/41	-
21-45959524-A-T	KRTAP10-1	c.510T>A	p.H170Q	Missense	1/1	-
21-45959524-A-C	KRTAP10-1	c.510T>G	p.H170Q	Missense	1/1	-
16-89178533-C-T	ACSF3	c.856C>T	p.R286W	Missense	5/11	-
12-6457332-C-T	SCNN1A	c.1717G>A	p.V573I	Missense	13/13	-
X-76938229-CT-C	ATRX	c.2518delA	p.R840Efs*29	Frameshift	9/35	-
6-43402489-C-T	ABCC10	c.1511C>T	p.A504V	Missense	4/22	-
17-7574004-GA-G	TP53	c.1022delT	p.F341Sfs*4	Frameshift	10/11	-
14-101347482-C-T	RTL1	c.3644G>A	p.R1215H	Missense	4/4	-
1-247875598-C-T	OR6F1	c.460G>A	p.V154M	Missense	3/3	-
20-36405814-A-G	CTNNBL1	c.818A>G	p.N273S	Missense	8/16	-
10-27454333-G-GA	MASTL	c.683_683dupA	p.N228Kfs*14	Frameshift	6/12	-
19-48543924-G-A	CABP5	c.176C>T	p.T59M	Missense	3/6	-
2-39164610-G-A	ARHGEF33	c.700G>A	p.V234I	Missense	9/18	-
1-245021357-G-A	HNRNPU	c.1450C>T	p.R484*	Nonsense	7/14	-
18-48434457-C-T	ME2	c.133C>T	p.R45*	Nonsense	3/16	-
9-137716639-C-T	COL5A1	c.4892C>T	p.T1631M	Missense	62/66	-
16-67914773-G-A	EDC4	c.2411G>A	p.R804Q	Missense	18/29	-
4-149181259-G-A	NR3C2	c.1768C>T	p.R590*	Nonsense	3/9	-
11-55322017-G-A	OR4C15	c.235G>A	p.V25I	Missense	1/1	-
9-2088540-G-A	SMARCA2	c.2810G>A	p.R937H	Missense	19/34	-
11-105880534-G-A	MSANTD4	c.766C>T	p.R256W	Missense	3/3	-
7-57528688-G-C	ZNF716	c.521G>C	p.R174T	Missense	4/4	-
6-39869234-C-T	DAAM2	c.2968C>T	p.R990C	Missense	24/25	-
1-120056657-G-A	HSD3B1	c.511G>A	p.G171R	Missense	4/4	-
1-248685005-C-A	OR2G6	c.58C>A	p.Q20K	Missense	2/2	-
9-1053762-G-A	DMRT2	c.566G>A	p.R189H	Missense	3/4	-
15-23932206-C-A	NDN	c.159G>T	p.Q53H	Missense	1/1	-
9-21187458-C-A	IFNA4	c.73G>T	p.D25Y	Missense	1/1	-
22-43898596-G-A	MPPED1	c.821G>A	p.R274H	Missense	6/7	-
11-47765654-T-C	FNBP4	c.1307A>G	p.D436G	Missense	8/17	-
9-79325235-C-T	PRUNE2	c.1955G>A	p.R652Q	Missense	8/19	-
5-38438491-C-T	EGFLAM	c.2398C>T	p.R800W	Missense	17/22	-
2-1651960-G-A	PXDN	c.3592C>T	p.R1198W	Missense	17/23	-
5-140723623-G-A	PCDHGA3	c.23G>A	p.R8Q	Missense	1/4	-
11-123597180-C-T	ZNF202	c.1472G>A	p.R491H	Missense	9/9	-
4-5664911-C-G	EVC2	c.1068G>C	p.E356D	Missense	9/22	-
3-129289654-G-A	PLXND1	c.3725C>T	p.A1242V	Missense	19/36	-
1-203316579-G-A	FMOD	c.820C>T	p.R274W	Missense	2/3	-
17-37107921-C-T	FBXO47	c.529G>A	p.E177K	Missense	6/11	-
2-170038125-G-C	LRP2	c.10002C>G	p.Y3334*	Nonsense	52/79	-
3-122645333-G-A	SEMA5B	c.1042C>T	p.R348C	Missense	9/23	-
5-169677832-G-A	LCP2	c.1381C>T	p.L461F	Missense	20/21	-
18-48575101-T-C	SMAD4	c.295T>C	p.W99R	Missense	3/12	-
1-248059391-G-A	OR2W3	c.503G>A	p.R168H	Missense	1/1	-
8-56015390-G-C	XKR4	c.342G>C	p.W114C	Missense	1/3	-
3-171404573-T-C	PLD1	c.1769A>G	p.Y590C	Missense	16/27	-
15-74336635-C-A	PML	c.1935C>A	p.F645L	Missense	9/9	-
18-48575108-G-A	SMAD4	c.302G>A	p.W101*	Nonsense	3/12	-
6-107824904-G-T	SOBP	c.140G>T	p.G47V	Missense	2/7	-
15-74336635-C-G	PML	c.1935C>G	p.F645L	Missense	9/9	-
18-48593417-G-T	SMAD4	c.1168G>T	p.E390*	Nonsense	10/12	-
2-98340854-C-T	ZAP70	c.355C>T	p.R119*	Nonsense	3/14	-
20-51871984-G-A	TSHZ2	c.1987G>A	p.E663K	Missense	2/3	-
13-25670703-G-T	PABPC3	c.367G>T	p.G123C	Missense	1/1	-
8-24774647-C-T	NEFM	c.1279C>T	p.R427*	Nonsense	3/3	-
19-3834874-G-A	ZFR2	c.161C>T	p.P54L	Missense	2/19	-
1-27057793-C-T	ARID1A	c.1501C>T	p.Q501*	Nonsense	3/20	-
11-66051052-C-T	CNIH2	c.467C>T	p.T156M	Missense	6/6	-
7-133906647-C-T	LRGUK	c.1960C>T	p.L654F	Missense	16/20	-
21-36164859-AGCGCGGGGAACTG-A	RUNX1	c.1003_1015del13	p.Q335Cfs*255	Frameshift	9/9	-
5-178418555-C-T	GRM6	c.727G>A	p.V243I	Missense	4/11	-
8-88886082-C-T	DCAF4L2	c.118G>A	p.A40T	Missense	1/1	-
3-113955906-C-T	ZNF80	c.16G>A	p.D6N	Missense	1/1	-
17-56435936-C-A	RNF43	c.1201G>T	p.E401*	Nonsense	9/10	-
12-103245473-A-C	PAH	c.904T>G	p.F302V	Missense	8/13	-
X-109937516-C-T	CHRDL1	c.653G>A	p.R218Q	Missense	8/12	-
2-212530175-G-A	ERBB4	c.1744C>T	p.H582Y	Missense	15/28	-
19-10599948-GTC-G	KEAP1	c.1626_1627delGA	p.E542Dfs*31	Frameshift	5/6	-
8-133899430-TC-T	TG	c.1816delC	p.Q606Rfs*34	Frameshift	9/48	-
11-46337910-G-A	CREB3L1	c.1105G>A	p.A369T	Missense	9/12	-
16-89245906-G-A	CDH15	c.125G>A	p.R42H	Missense	2/14	-
3-89448601-G-A	EPHA3	c.1565G>A	p.R522H	Missense	7/17	-
1-175067548-G-A	TNN	c.1936G>A	p.A646T	Missense	9/19	-
11-124747880-G-A	ROBO3	c.3034G>A	p.A1012T	Missense	21/28	-
3-140785550-C-T	SPSB4	c.604C>T	p.R202*	Nonsense	2/3	-
8-133882059-C-T	TG	c.262C>T	p.R88W	Missense	3/48	-
19-1219341-C-A	STK11	c.393C>A	p.Y131*	Nonsense	3/10	-
3-119720981-C-T	GSK3B	c.194G>A	p.G65E	Missense	2/11	-
19-1219341-C-G	STK11	c.393C>G	p.Y131*	Nonsense	3/10	-
X-70147355-C-T	SLC7A3	c.1162G>A	p.V388M	Missense	7/12	-
11-55432832-T-G	OR4C6	c.190T>G	p.L64V	Missense	2/2	-
18-48591926-T-G	SMAD4	c.1089T>G	p.C363W	Missense	9/12	-
17-53398112-G-A	HLF	c.760G>A	p.A254T	Missense	4/4	-
1-182554878-C-T	RNASEL	c.1064G>A	p.R355H	Missense	2/7	-
1-24390604-C-T	MYOM3	c.3580G>A	p.D1194N	Missense	30/37	-
3-49662655-G-A	BSN	c.472G>A	p.V158I	Missense	2/12	-
5-121758671-C-T	SNCAIP	c.239C>T	p.S80L	Missense	4/11	-
2-179518955-G-A	TTN	c.38360C>T	p.P12787L	Missense	193/363	-
17-7577071-G-GA	TP53	c.866_866dupT	p.R290Pfs*16	Frameshift	8/11	-
17-7578384-GCAGCGCT-G	TP53	c.539_545delAGCGCTG	p.E180Afs*65	Frameshift	5/11	-
19-1221981-C-T	STK11	c.896C>T	p.S299F	Missense	7/10	-
20-55758828-C-T	BMP7	c.908G>A	p.R303H	Missense	4/7	-
15-75044485-C-T	CYP1A2	c.1063C>T	p.R355W	Missense	5/7	-
14-23888743-G-A	MYH7	c.3802C>T	p.R1268C	Missense	28/40	-
1-35365841-C-T	DLGAP3	c.1141G>A	p.G381S	Missense	4/12	-
13-52952727-G-A	THSD1	c.1378C>T	p.R460W	Missense	5/5	-
19-51274590-C-T	GPR32	c.733C>T	p.R245W	Missense	1/1	-
1-101705564-C-T	S1PR1	c.1024C>T	p.R342*	Nonsense	2/2	-
9-98209521-C-T	PTCH1	c.4017G>A	p.W1339*	Nonsense	23/24	-
16-65038625-G-A	CDH11	c.148C>T	p.R50C	Missense	3/13	-
19-47285694-C-T	SLC1A5	c.770G>A	p.R257H	Missense	4/8	-
19-56369444-G-A	NLRP4	c.685G>A	p.V229I	Missense	3/10	-
17-9828912-C-T	GAS7	c.1019G>A	p.R340Q	Missense	11/14	-
12-108686207-C-T	CMKLR1	c.533G>A	p.R178Q	Missense	4/4	-
9-118997852-C-T	PAPPA	c.2668C>T	p.R890W	Missense	7/22	-
18-48575101-T-A	SMAD4	c.295T>A	p.W99R	Missense	3/12	-
7-143792799-C-T	OR2A12	c.599C>T	p.A200V	Missense	2/2	-
X-107160757-G-A	MID2	c.1223G>A	p.R408Q	Missense	7/10	-
19-9073155-G-A	MUC16	c.14291C>T	p.P4764L	Missense	3/84	-
6-31922198-C-T	NELFE	c.764G>A	p.R255Q	Missense	8/11	-
13-25670691-G-T	PABPC3	c.355G>T	p.V119F	Missense	1/1	-
2-198950517-C-T	PLCL1	c.2276C>T	p.A759V	Missense	2/6	-
22-32756595-C-T	RFPL3	c.730C>T	p.R244*	Nonsense	2/2	-
15-77907093-G-A	LINGO1	c.1156C>T	p.R386W	Missense	2/2	-
5-149500554-G-A	PDGFRB	c.2483C>T	p.A828V	Missense	18/23	-
20-3679944-G-A	SIGLEC1	c.1691C>T	p.A564V	Missense	8/22	-
5-33576173-C-T	ADAMTS12	c.3958G>A	p.G1320R	Missense	19/24	-
2-209045991-C-T	C2orf80	c.245G>A	p.R82H	Missense	5/9	-
19-8808057-G-A	ACTL9	c.995C>T	p.A332V	Missense	1/1	-
8-24772138-G-A	NEFM	c.832G>A	p.E278K	Missense	1/3	-
20-58330309-C-T	PHACTR3	c.431C>T	p.S144L	Missense	4/13	-
17-64049870-G-A	CEP112	c.1202C>T	p.A401V	Missense	12/27	-
2-177036271-C-T	HOXD3	c.568C>T	p.P190S	Missense	4/4	-
12-43846488-C-T	ADAMTS20	c.1771G>A	p.G591R	Missense	13/39	-
12-43846488-C-G	ADAMTS20	c.1771G>C	p.G591R	Missense	13/39	-
2-239039313-G-A	ESPNL	c.1958G>A	p.R653Q	Missense	9/9	-
11-101778546-G-A	ANGPTL5	c.95C>T	p.T32M	Missense	2/9	-
8-103282376-G-A	UBR5	c.7121C>T	p.P2374L	Missense	50/59	-
4-141888806-G-A	RNF150	c.706C>T	p.R236*	Nonsense	2/7	-
19-57334199-G-A	PEG3	c.487C>T	p.R163W	Missense	6/10	-
13-38172840-A-T	POSTN	c.24T>A	p.F8L	Missense	1/23	-
3-48612878-C-G	COL7A1	c.6074G>C	p.G2025A	Missense	74/119	-
5-127671703-G-A	FBN2	c.3701C>T	p.T1234M	Missense	28/65	-
5-127599171-G-A	FBN2	c.8138C>T	p.T2713M	Missense	63/65	-
3-23932002-G-A	UBE2E1	c.487G>A	p.D163N	Missense	6/6	-
10-15107599-G-A	OLAH	c.419G>A	p.R140H	Missense	6/8	-
1-210857360-G-A	KCNH1	c.2233C>T	p.R745*	Nonsense	11/11	-
4-114267060-G-A	ANK2	c.4253G>A	p.R1418H	Missense	35/46	-
13-29001438-C-T	FLT1	c.1294G>A	p.E432K	Missense	10/30	-
2-166152377-G-A	SCN2A	c.44G>A	p.R15H	Missense	2/27	-
7-36661380-G-A	AOAH	c.589C>T	p.R197W	Missense	8/21	-
17-29848290-G-A	RAB11FIP4	c.670G>A	p.D224N	Missense	5/15	-
16-30495230-G-A	ITGAL	c.805G>A	p.D269N	Missense	8/31	-
11-94730922-G-A	KDM4D	c.386G>A	p.R129H	Missense	3/3	-
18-347200-G-A	COLEC12	c.422C>T	p.A141V	Missense	5/10	-
1-44877992-C-T	RNF220	c.223C>T	p.R75W	Missense	2/15	-
2-31215800-C-T	GALNT14	c.203G>A	p.R68H	Missense	2/15	-
18-29210989-G-A	B4GALT6	c.709C>T	p.R237W	Missense	6/9	-
X-30327002-G-A	NR0B1	c.479C>T	p.P160L	Missense	1/2	-
1-90401094-C-T	LRRC8D	c.2467C>T	p.L823F	Missense	3/3	-
12-26755594-G-A	ITPR2	c.3508C>T	p.Q1170*	Nonsense	27/57	-
17-7578444-G-GA	TP53	c.485_485dupT	p.Y163Lfs*18	Frameshift	5/11	-
14-20859220-C-G	TEP1	c.2133G>C	p.M711I	Missense	14/55	-
14-20859220-C-T	TEP1	c.2133G>A	p.M711I	Missense	14/55	-
14-20859220-C-A	TEP1	c.2133G>T	p.M711I	Missense	14/55	-
5-101748743-G-A	SLCO6A1	c.1577C>T	p.S526F	Missense	9/14	-
15-89074318-G-A	DET1	c.619C>T	p.R207C	Missense	2/5	-
5-145647319-T-TA	RBM27	c.2448dupA	p.Q817Tfs*63	Frameshift	15/21	-
2-189864098-G-A	COL3A1	c.2110G>A	p.E704K	Missense	30/51	-
3-93611889-G-A	PROS1	c.1043C>T	p.A348V	Missense	10/15	-
16-71065798-G-A	HYDIN	c.2552C>T	p.T851M	Missense	19/86	-
11-4967550-C-T	OR51A4	c.781G>A	p.V261I	Missense	2/2	-
5-140229141-C-T	PCDHA9	c.1061C>T	p.T354M	Missense	1/4	-
19-6230661-C-A	MLLT1	c.340G>T	p.V114L	Missense	4/12	-
17-21319490-C-T	KCNJ12	c.836C>T	p.P279L	Missense	3/3	-
5-140481632-G-A	PCDHB3	c.1399G>A	p.A467T	Missense	1/1	-
5-140515710-G-A	PCDHB5	c.694G>A	p.V232I	Missense	1/1	-
2-189904075-C-T	COL5A2	c.3848G>A	p.R1283H	Missense	51/54	-
5-140554382-G-A	PCDHB7	c.1966G>A	p.A656T	Missense	1/1	-
11-71189504-C-T	NADSYN1	c.862C>T	p.R288*	Nonsense	10/21	-
2-238258816-C-T	COL6A3	c.6853G>A	p.G2285R	Missense	28/44	-
8-144940506-C-T	EPPK1	c.6916G>A	p.A2306T	Missense	2/3	-
1-235887410-C-T	LYST	c.9233G>A	p.R3078H	Missense	39/53	-
20-60921571-C-T	LAMA5	c.1273G>A	p.V425I	Missense	9/80	-
8-88885088-C-T	DCAF4L2	c.1112G>A	p.R371H	Missense	1/1	-
1-228033692-G-A	PRSS38	c.764G>A	p.R255H	Missense	5/5	-
14-25075943-C-T	GZMH	c.607G>A	p.G203R	Missense	5/5	-
7-107570040-A-G	LAMB1	c.4562T>C	p.I1521T	Missense	30/34	-
1-204236639-A-G	PLEKHA6	c.244T>C	p.F82L	Missense	5/23	-
1-204236637-G-C	PLEKHA6	c.246C>G	p.F82L	Missense	5/23	-
1-6533504-C-T	PLEKHG5	c.602G>A	p.R201H	Missense	8/21	-
10-125602003-G-A	CPXM2	c.515C>T	p.A172V	Missense	4/14	-
20-17445987-C-T	PCSK2	c.1219C>T	p.R407W	Missense	11/12	-
12-48884611-G-A	C12orf54	c.185G>A	p.R62Q	Missense	6/9	-
16-614063-C-T	PRR35	c.769C>T	p.R257C	Missense	2/3	-
X-109964647-C-T	CHRDL1	c.413G>A	p.R138Q	Missense	5/12	-
7-150164096-G-A	GIMAP8	c.310G>A	p.G104S	Missense	2/5	-
1-32745796-C-T	LCK	c.1312C>T	p.R438C	Missense	12/13	-
16-16208679-C-T	ABCC1	c.3136C>T	p.R1046C	Missense	23/31	-
1-176926855-G-A	ASTN1	c.1846C>T	p.R616C	Missense	11/23	-
3-48465392-C-T	PLXNB1	c.629G>A	p.R210H	Missense	3/38	-
16-27761540-C-T	KATNIP	c.3259C>T	p.R1087*	Nonsense	16/28	-
5-76646918-G-A	PDE8B	c.1046G>A	p.R349Q	Missense	9/22	-
12-21954093-G-A	ABCC9	c.4535C>T	p.T1512M	Missense	40/40	-
7-43351573-C-T	HECW1	c.239C>T	p.T80M	Missense	4/30	-
3-46713649-C-T	ALS2CL	c.2515G>A	p.E839K	Missense	23/26	-
12-71029509-C-T	PTPRB	c.393G>A	p.M131I	Missense	2/34	-
6-151331063-G-A	MTHFD1L	c.2234G>A	p.R745Q	Missense	21/28	-
12-71029509-C-A	PTPRB	c.393G>T	p.M131I	Missense	2/34	-
8-2976104-C-T	CSMD1	c.6247G>A	p.E2083K	Missense	42/70	-
7-100084710-G-A	NYAP1	c.335G>A	p.R112Q	Missense	3/7	-
3-170140969-G-A	CLDN11	c.245G>A	p.R82H	Missense	2/3	-
X-96013171-G-A	DIAPH2	c.361G>A	p.E121K	Missense	4/27	-
13-92345708-G-A	GPC5	c.593G>A	p.R198H	Missense	3/8	-
12-39711942-G-A	KIF21A	c.3841C>T	p.R1281C	Missense	29/38	-
2-99006140-G-A	CNGA3	c.469G>A	p.D157N	Missense	6/8	-
4-23803857-G-A	PPARGC1A	c.2131C>T	p.R711W	Missense	11/13	-
11-123887117-C-T	OR10G4	c.836C>T	p.T279M	Missense	2/2	-
1-159505560-G-A	OR10J5	c.238C>T	p.R80*	Nonsense	1/1	-
1-160589609-T-C	SLAMF1	c.821A>G	p.E274G	Missense	5/7	-
7-100677989-G-A	MUC17	c.3292G>A	p.E1098K	Missense	3/13	-
1-110924274-C-T	SLC16A4	c.364G>A	p.G122S	Missense	4/9	-
10-72489913-G-A	ADAMTS14	c.1010G>A	p.R337H	Missense	6/22	-
3-74418456-T-G	CNTN3	c.830A>C	p.K277T	Missense	7/22	-
11-63064875-C-T	SLC22A10	c.607C>T	p.R203C	Missense	3/10	-
9-125330525-C-T	OR1L8	c.232G>A	p.V78I	Missense	1/1	-
4-187516845-T-C	FAT1	c.13136A>G	p.N4379S	Missense	26/27	-
1-248685339-G-A	OR2G6	c.392G>A	p.R131H	Missense	2/2	-
22-17473038-C-T	GAB4	c.203G>A	p.R68Q	Missense	2/10	-
1-248367247-G-A	OR2M3	c.878G>A	p.R293H	Missense	2/2	-
7-31126590-C-T	ADCYAP1R1	c.857C>T	p.T286M	Missense	11/16	-
15-26806279-G-A	GABRB3	c.880C>T	p.R294W	Missense	8/9	-
5-140182232-G-A	PCDHA3	c.1450G>A	p.A484T	Missense	1/4	-
19-56369493-C-T	NLRP4	c.734C>T	p.S245L	Missense	3/10	-
19-56369294-C-T	NLRP4	c.535C>T	p.R179W	Missense	3/10	-
17-10541230-C-T	MYH3	c.3752G>A	p.R1251Q	Missense	28/41	-
11-55136325-G-A	OR4A15	c.966G>A	p.M322I	Missense	1/1	-
1-152732729-G-A	KPRP	c.665G>A	p.R222Q	Missense	2/2	-
11-107502339-G-A	ELMOD1	c.226G>A	p.A76T	Missense	5/12	-
3-165547858-C-T	BCHE	c.964G>A	p.V322M	Missense	2/4	-
5-176012966-A-G	CDHR2	c.2746A>G	p.I916V	Missense	20/32	-
19-7670160-C-T	CAMSAP3	c.197C>T	p.A66V	Missense	2/17	-
12-51773511-C-T	GALNT6	c.55G>A	p.A19T	Missense	3/12	-
18-2891059-G-A	EMILIN2	c.934G>A	p.E312K	Missense	4/8	-
8-37823637-G-T	ADRB3	c.351C>A	p.D117E	Missense	1/2	-
11-101375456-G-A	TRPC6	c.244C>T	p.R82*	Nonsense	2/13	-
18-67992926-G-A	SOCS6	c.1022G>A	p.R341H	Missense	2/2	-
20-35444329-C-G	SOGA1	c.1516G>C	p.G506R	Missense	5/15	-
18-31523045-C-T	NOL4	c.1526G>A	p.R509H	Missense	9/11	-
21-33371178-C-T	HUNK	c.1826C>T	p.S609L	Missense	11/11	-
10-29762840-C-T	SVIL	c.5456G>A	p.R1819Q	Missense	30/38	-
18-48604697-A-G	SMAD4	c.1519A>G	p.K507E	Missense	12/12	-
15-64698592-G-A	TRIP4	c.761G>A	p.R254Q	Missense	6/13	-
17-4686202-G-A	TM4SF5	c.449G>A	p.R150H	Missense	4/5	-
19-58371174-C-T	ZNF587	c.1394C>T	p.A465V	Missense	3/3	-
12-57626616-C-T	SHMT2	c.847C>T	p.R283*	Nonsense	7/12	-
7-128451963-G-A	CCDC136	c.2138G>A	p.R713Q	Missense	13/18	-
4-38829218-C-T	TLR6	c.1877G>A	p.R626H	Missense	2/2	-
7-105915412-C-T	NAMPT	c.298G>A	p.G100R	Missense	3/11	-
5-178564851-C-T	ADAMTS2	c.1870G>A	p.E624K	Missense	12/22	-
15-75500464-G-A	C15orf39	c.2075G>A	p.R692Q	Missense	2/3	-
19-11537742-C-T	ODAD3	c.563G>A	p.R188H	Missense	4/13	-
15-84592702-G-T	ADAMTSL3	c.2034G>T	p.Q678H	Missense	17/30	-
12-108985886-G-A	TMEM119	c.274C>T	p.R92C	Missense	2/2	-
6-62995778-G-A	KHDRBS2	c.76C>T	p.R26C	Missense	1/9	-
1-110738249-G-A	SLC6A17	c.1534G>A	p.V512I	Missense	10/12	-
6-161026078-G-A	LPA	c.2945C>T	p.A982V	Missense	18/39	-
1-247752007-G-A	OR2G2	c.346G>A	p.V116I	Missense	1/1	-
16-87902863-C-A	SLC7A5	c.166G>T	p.V56L	Missense	1/10	-
12-130184746-C-T	TMEM132D	c.577G>A	p.V193M	Missense	2/9	-
10-123845811-G-A	TACC2	c.3796G>A	p.E1266K	Missense	4/23	-
16-88688687-C-T	ZC3H18	c.1558C>T	p.R520C	Missense	9/18	-
10-8006792-C-T	TAF3	c.1319C>T	p.A440V	Missense	3/7	-
13-84455131-G-C	SLITRK1	c.512C>G	p.A171G	Missense	2/2	-
2-145161641-C-T	ZEB2	c.649G>A	p.D217N	Missense	6/10	-
1-157548632-C-T	FCRL4	c.1288G>A	p.A430T	Missense	9/12	-
6-46111240-G-A	ENPP4	c.1225G>A	p.A409T	Missense	4/4	-
12-57604231-G-A	LRP1	c.12722G>A	p.R4241H	Missense	82/89	-
5-168271604-C-T	SLIT3	c.542G>A	p.R181H	Missense	6/36	-
14-60616896-T-TA	DHRS7	c.642dupT	p.N215*	SpliceAcceptorInsertion	5/7	-
5-115335510-G-A	LVRN	c.1426G>A	p.A476T	Missense	7/20	-
6-38084452-C-T	ZFAND3	c.466C>T	p.R156W	Missense	5/6	-
18-31324052-G-A	ASXL3	c.4240G>A	p.A1414T	Missense	12/12	-
14-76149932-G-A	TTLL5	c.304G>A	p.G102R	Missense	5/32	-
1-84386935-C-T	TTLL7	c.1285G>A	p.E429K	Missense	11/21	-
20-30522516-C-T	TTLL9	c.829C>T	p.R277C	Missense	12/15	-
1-13839728-C-T	LRRC38	c.361G>A	p.A121T	Missense	1/2	-
6-132636846-C-T	MOXD1	c.1436G>A	p.R479Q	Missense	10/12	-
19-3816769-C-T	ZFR2	c.2006G>A	p.R669H	Missense	13/19	-
1-117156417-C-T	IGSF3	c.802G>A	p.E268K	Missense	4/11	-
20-47863986-C-T	ZNFX1	c.5575G>A	p.D1859N	Missense	14/14	-
19-53056414-G-C	ZNF808	c.245G>C	p.R82T	Missense	5/5	-
13-60548567-G-T	DIAPH3	c.1569C>A	p.H523Q	Missense	15/28	-
9-72962016-T-C	SMC5	c.2603T>C	p.I868T	Missense	20/25	-
19-58102036-G-A	ZIK1	c.857G>A	p.R286Q	Missense	4/4	-
16-66423279-C-T	CDH5	c.635C>T	p.T212M	Missense	5/12	-
8-95188775-G-A	CDH17	c.418C>T	p.R140C	Missense	5/18	-
10-81058854-G-A	ZMIZ1	c.1714G>A	p.V572M	Missense	16/25	-
10-107023094-G-A	SORCS3	c.3631G>A	p.E1211K	Missense	27/27	-
11-95712335-G-A	MAML2	c.3248C>T	p.T1083M	Missense	5/5	-
16-61689583-C-T	CDH8	c.1697G>A	p.R566H	Missense	11/12	-
17-7951753-G-A	ALOX15B	c.1901G>A	p.R634Q	Missense	14/14	-
13-19753481-C-T	TUBA3C	c.226G>A	p.D76N	Missense	2/5	-
13-41636824-G-A	WBP4	c.47G>A	p.C16Y	Missense	2/10	-
8-98699768-C-T	MTDH	c.680C>T	p.T227I	Missense	4/12	-
1-175332868-G-A	TNR	c.2683C>T	p.R895*	Nonsense	13/23	-
13-26828878-C-T	CDK8	c.100C>T	p.H34Y	Missense	1/13	-
19-56515393-C-T	NLRP5	c.374C>T	p.T125M	Missense	2/15	-
8-15519723-C-T	TUSC3	c.626C>T	p.S209L	Missense	5/11	-
17-11572543-G-A	DNAH9	c.2894G>A	p.R965Q	Missense	16/69	-
X-53283774-C-T	IQSEC2	c.1339G>A	p.V447I	Missense	4/15	-
7-66648179-G-A	TYW1	c.1765G>A	p.A589T	Missense	14/16	-
6-159188388-C-T	EZR	c.1501G>A	p.A501T	Missense	13/14	-
15-40068664-C-T	FSIP1	c.62G>A	p.R21H	Missense	2/12	-
3-10276215-G-A	IRAK2	c.1345G>A	p.V449M	Missense	11/13	-
21-10910396-G-T	TPTE	c.1360C>A	p.L454I	Missense	22/24	-
X-48896774-C-T	TFE3	c.392G>A	p.R131H	Missense	3/10	-
17-45608819-C-G	NPEPPS	c.153C>G	p.F51L	Missense	1/23	-
19-50752376-G-A	MYH14	c.1462G>A	p.A488T	Missense	13/43	-
9-86281333-G-A	UBQLN1	c.1264C>T	p.P422S	Missense	8/11	-
20-60902423-G-A	LAMA5	c.4978C>T	p.R1660W	Missense	38/80	-
9-75774283-C-T	ANXA1	c.214C>T	p.R72*	Nonsense	4/13	-
5-140581055-G-A	PCDHB11	c.1708G>A	p.A570T	Missense	1/1	-
6-160160025-C-T	WTAP	c.34C>T	p.R12*	Nonsense	3/8	-
3-197239227-C-T	BDH1	c.571G>A	p.V191I	Missense	8/8	-
5-140475095-G-A	PCDHB2	c.721G>A	p.V241I	Missense	1/1	-
1-205238408-C-T	TMCC2	c.1078C>T	p.R360C	Missense	3/5	-
4-70079789-G-T	UGT2B11	c.652C>A	p.L218I	Missense	1/6	-
11-119183296-C-T	MCAM	c.802G>A	p.V268M	Missense	7/16	-
20-2320536-G-A	TGM3	c.1837G>A	p.V613M	Missense	12/13	-
16-75512934-G-A	CHST6	c.793C>T	p.R265C	Missense	3/3	-
9-109691195-T-A	ZNF462	c.5002T>A	p.F1668I	Missense	3/13	-
2-136567156-C-T	LCT	c.2761G>A	p.A921T	Missense	8/17	-
X-44703793-C-T	DUSP21	c.415C>T	p.R139C	Missense	1/1	-
1-220101728-C-T	SLC30A10	c.55G>A	p.V19I	Missense	1/4	-
5-88018707-T-C	MEF2C	c.1136A>G	p.N379S	Missense	11/11	-
14-24885117-C-T	NYNRIN	c.4162C>T	p.L1388F	Missense	9/9	-
14-93712355-G-A	BTBD7	c.2399C>T	p.S800L	Missense	10/11	-
1-158299390-C-T	CD1B	c.656G>A	p.R219H	Missense	4/6	-
6-151336804-G-A	MTHFD1L	c.2561G>A	p.R854Q	Missense	24/28	-
14-23855757-G-A	MYH6	c.4726C>T	p.R1576W	Missense	33/39	-
5-140755346-G-A	PCDHGA6	c.1696G>A	p.A566T	Missense	1/4	-
5-169310004-G-A	INSYN2B	c.899C>T	p.T300M	Missense	2/4	-
18-29496397-G-A	TRAPPC8	c.455C>T	p.A152V	Missense	4/29	-
6-155450851-C-T	TIAM2	c.494C>T	p.T165M	Missense	4/27	-
4-57883351-C-T	POLR2B	c.2098C>T	p.P700S	Missense	15/25	-
20-60893697-C-T	LAMA5	c.7052G>A	p.R2351Q	Missense	53/80	-
19-47969455-G-A	SLC8A2	c.206C>T	p.A69V	Missense	2/10	-
1-173552698-G-C	SLC9C2	c.587C>G	p.S196*	Nonsense	6/28	-
2-234851384-G-A	TRPM8	c.691G>A	p.D231N	Missense	6/26	-
5-80382767-G-A	RASGRF2	c.1385G>A	p.R462H	Missense	9/27	-
16-70894689-G-A	HYDIN	c.11893C>T	p.R3965C	Missense	70/86	-
21-45821602-G-A	TRPM2	c.2360G>A	p.R787H	Missense	16/32	-
13-95034756-C-T	GPC6	c.1241C>T	p.A414V	Missense	7/9	-
10-25877996-C-T	GPR158	c.1814C>T	p.S605L	Missense	8/11	-
8-56015390-G-T	XKR4	c.342G>T	p.W114C	Missense	1/3	-
19-51132676-C-T	SYT3	c.1156G>A	p.V386I	Missense	6/11	-
17-3119278-C-T	OR1A1	c.364C>T	p.R122*	Nonsense	4/4	-
X-34150049-G-A	FAM47A	c.347C>T	p.A116V	Missense	1/1	-
17-74934124-G-A	MGAT5B	c.1483G>A	p.V495M	Missense	13/18	-
6-136677903-C-T	MAP7	c.1942G>A	p.A648T	Missense	16/18	-
6-136682184-C-T	MAP7	c.1660G>A	p.A554T	Missense	12/18	-
19-56701309-G-A	ZSCAN5B	c.1375C>T	p.R459C	Missense	5/5	-
15-75982331-T-G	CSPG4	c.1075A>C	p.S359R	Missense	3/10	-
6-152469290-T-C	SYNE1	c.24866A>G	p.Y8289C	Missense	137/146	-
15-84651795-C-T	ADAMTSL3	c.3415C>T	p.R1139W	Missense	21/30	-
12-100491196-G-A	UHRF1BP1L	c.616C>T	p.P206S	Missense	6/21	-
5-149247314-G-A	PDE6A	c.2248C>T	p.R750C	Missense	19/22	-
4-96163622-C-T	UNC5C	c.1066G>A	p.V356I	Missense	7/16	-
21-14982810-A-C	POTED	c.261A>C	p.E87D	Missense	1/11	-
21-14982810-A-T	POTED	c.261A>T	p.E87D	Missense	1/11	-
9-107579624-G-A	ABCA1	c.3524C>T	p.T1175M	Missense	24/50	-
7-123120019-G-A	IQUB	c.1240C>T	p.R414W	Missense	8/13	-
14-24109027-G-A	DHRS2	c.343G>A	p.D115N	Missense	4/9	-
15-65499260-C-T	CILP	c.284G>A	p.R95Q	Missense	4/9	-
15-53049960-C-T	ONECUT1	c.1190G>A	p.R397H	Missense	2/2	-
2-68609757-G-A	PLEK	c.464G>A	p.C155Y	Missense	4/9	-
1-20639362-C-T	VWA5B1	c.173C>T	p.T58M	Missense	3/22	-
11-123900634-T-C	OR10G8	c.305T>C	p.F102S	Missense	2/2	-
4-40440217-C-T	RBM47	c.694G>A	p.E232K	Missense	4/7	-
7-86416012-G-A	GRM3	c.904G>A	p.G302S	Missense	3/6	-
7-24874320-G-A	OSBPL3	c.1531C>T	p.R511W	Missense	15/23	-
11-218992-C-T	SIRT3	c.1019G>A	p.R340Q	Missense	6/7	-
22-40037050-C-T	CACNA1I	c.919C>T	p.R307C	Missense	6/37	-
7-143701871-G-A	OR6B1	c.782G>A	p.R261Q	Missense	2/2	-
19-46215079-C-T	FBXO46	c.1675G>A	p.G559R	Missense	2/2	-
19-46215079-C-G	FBXO46	c.1675G>C	p.G559R	Missense	2/2	-
9-434898-G-A	DOCK8	c.5002G>A	p.A1668T	Missense	39/48	-
19-17170442-C-G	HAUS8	c.345G>C	p.K115N	Missense	6/11	-
7-126086303-G-A	GRM8	c.2554C>T	p.R852C	Missense	10/11	-
14-20943313-G-A	PNP	c.554G>A	p.R185H	Missense	5/6	-
19-17170442-C-A	HAUS8	c.345G>T	p.K115N	Missense	6/11	-
20-58349368-G-A	PHACTR3	c.997G>A	p.V333M	Missense	7/13	-
2-152311447-G-A	RIF1	c.2383G>A	p.E795K	Missense	22/36	-
17-32583836-C-T	CCL2	c.290C>T	p.P97L	Missense	3/3	-
18-347104-G-A	COLEC12	c.518C>T	p.A173V	Missense	5/10	-
2-202216040-G-A	FLACC1	c.88C>T	p.R30C	Missense	2/15	-
8-20110462-G-A	LZTS1	c.980C>T	p.A327V	Missense	3/4	-
7-72742675-C-T	FKBP6	c.155C>T	p.A52V	Missense	2/9	-
4-74365751-G-A	AFM	c.1453G>A	p.V485I	Missense	12/15	-
21-31965059-G-A	KRTAP6-3	c.295G>A	p.G99S	Missense	1/1	-
12-123187530-G-A	HCAR2	c.301C>T	p.R101W	Missense	1/1	-
1-236722360-G-A	HEATR1	c.4846C>T	p.R1616C	Missense	35/45	-
5-140590002-C-T	PCDHB12	c.1523C>T	p.A508V	Missense	1/1	-
11-75319203-C-T	MAP6	c.1070G>A	p.R357H	Missense	2/4	-
5-140256993-C-T	PCDHA12	c.1936C>T	p.R646C	Missense	1/4	-
5-140215580-C-T	PCDHA7	c.1612C>T	p.R538C	Missense	1/4	-
5-140554272-C-T	PCDHB7	c.1856C>T	p.A619V	Missense	1/1	-
8-134042161-C-T	TG	c.7132C>T	p.R2378W	Missense	41/48	-
14-96180331-C-T	TCL1A	c.73G>A	p.V25M	Missense	1/4	-
4-121631495-G-A	PRDM5	c.1697C>T	p.T566M	Missense	15/16	-
4-121719576-T-C	PRDM5	c.1034A>G	p.K345R	Missense	10/16	-
8-39782839-G-A	IDO1	c.805G>A	p.V269I	Missense	9/10	-
4-652798-G-A	PDE6B	c.1459G>A	p.E487K	Missense	11/22	-
19-5641856-G-A	SAFB	c.445G>A	p.E149K	Missense	4/21	-
15-33878259-C-T	RYR3	c.1730C>T	p.A577V	Missense	16/104	-
20-2290407-T-C	TGM3	c.112T>C	p.F38L	Missense	2/13	-
20-2290409-C-A	TGM3	c.114C>A	p.F38L	Missense	2/13	-
20-2290409-C-G	TGM3	c.114C>G	p.F38L	Missense	2/13	-
4-188924520-G-A	ZFP42	c.559G>A	p.A187T	Missense	4/4	-
18-64235674-C-A	CDH19	c.469G>T	p.V157L	Missense	3/12	-
22-50720081-C-T	PLXNB2	c.3436G>A	p.D1146N	Missense	21/37	-
3-23934798-C-T	NKIRAS1	c.367G>A	p.D123N	Missense	5/5	-
16-88643823-G-A	ZC3H18	c.292G>A	p.E98K	Missense	2/18	-
19-38875141-C-T	GGN	c.1870G>A	p.E624K	Missense	4/4	-
19-40901963-C-T	PRX	c.2296G>A	p.V766M	Missense	7/7	-
11-122929378-G-A	HSPA8	c.1484C>T	p.T495M	Missense	7/9	-
11-100998478-C-T	PGR	c.1324G>A	p.A442T	Missense	1/8	-
19-43766042-G-A	PSG9	c.679C>T	p.R227C	Missense	3/6	-
20-62737697-G-A	NPBWR2	c.488C>T	p.A163V	Missense	2/2	-
7-4008918-C-T	SDK1	c.1576C>T	p.R526W	Missense	11/45	-
13-114134962-G-A	DCUN1D2	c.317C>T	p.A106V	Missense	3/7	-
8-106456568-C-T	ZFPM2	c.260C>T	p.P87L	Missense	3/8	-
10-35896520-G-A	GJD4	c.79G>A	p.V27I	Missense	2/2	-
17-16221128-G-A	PIGL	c.566G>A	p.R189H	Missense	6/7	-
22-39222674-C-T	NPTXR	c.929G>A	p.R310Q	Missense	3/5	-
11-18736129-G-A	IGSF22	c.1574C>T	p.A525V	Missense	12/23	-
17-39334307-C-T	KRTAP4-2	c.110G>A	p.R37H	Missense	1/1	-
7-70597915-C-T	GALNT17	c.127C>T	p.R43W	Missense	1/11	-
11-66463935-C-T	SPTBN2	c.4091G>A	p.R1364H	Missense	21/38	-
11-1959681-GGG-AGC	TNNT3	c.736_738delGGGinsAGC	p.G246S	Missense	16/16	-
8-37729385-C-T	RAB11FIP1	c.2935G>A	p.G979R	Missense	4/6	-
8-37729385-C-G	RAB11FIP1	c.2935G>C	p.G979R	Missense	4/6	-
11-99942441-G-A	CNTN5	c.1304G>A	p.R435K	Missense	12/25	-
13-92797194-G-A	GPC5	c.1513G>A	p.G505R	Missense	7/8	-
13-92797194-G-C	GPC5	c.1513G>C	p.G505R	Missense	7/8	-
16-11096980-G-A	CLEC16A	c.1121G>A	p.R374Q	Missense	11/24	-
19-2115282-G-A	AP3D1	c.2285C>T	p.T762M	Missense	20/32	-
3-52556666-G-A	STAB1	c.6706G>A	p.V2236I	Missense	61/69	-
11-68183855-G-A	LRP5	c.2887G>A	p.D963N	Missense	13/23	-
15-83935797-T-TG	BNC1	c.225dupC	p.M76Hfs*17	Frameshift	3/5	-
20-31671213-A-AC	BPIFB4	c.218dupC	p.V74Sfs*9	Frameshift	5/18	-
1-27278781-CAT-C	KDF1	c.89_90delAT	p.Y30*	Frameshift	2/4	-
11-65385736-CT-C	PCNX3	c.905delT	p.F302Sfs*9	Frameshift	6/35	-
17-51902013-TA-T	KIF2B	c.1626delA	p.K542Nfs*2	Frameshift	1/1	-
22-32794005-A-AT	RTCB	c.736dupA	p.M246Nfs*6	Frameshift	7/12	-
12-75900343-A-AT	KRR1	c.439dupA	p.I147Nfs*8	Frameshift	4/10	-
19-22846645-C-CA	ZNF492	c.182dupA	p.N61Kfs*12	Frameshift	4/4	-
19-9049102-GA-G	MUC16	c.32528delT	p.F10843Sfs*11	Frameshift	5/84	-
19-22575731-A-AT	ZNF98	c.305dupA	p.N102Kfs*12	Frameshift	4/4	-
11-61026163-T-TC	VWCE	c.2851dupG	p.E951Gfs*70	Frameshift	20/20	-
17-7579319-G-GT	TP53	c.367_367dupA	p.T123Nfs*26	Frameshift	4/11	-
2-227924333-C-G	COL4A4	c.2171G>C	p.R724P	Missense	28/48	-
17-7577513-TGTGATGATG-T	TP53	c.759_767delCATCATCAC	p.I254_T256del	InFrameDeletion	7/11	-
8-37654905-C-G	ADGRA2	c.119C>G	p.S40C	Missense	1/19	-
20-44665416-A-G	SLC12A5	c.463A>G	p.T155A	Missense	5/26	-
6-51927324-G-T	PKHD1	c.1111C>A	p.P371T	Missense	14/67	-
2-233498601-C-G	EFHD1	c.187C>G	p.L63V	Missense	1/4	-
1-175106085-C-T	TNN	c.3556C>T	p.R1186W	Missense	17/19	-
14-36988339-AC-A	NKX2-1	c.313delG	p.V105Cfs*20	Frameshift	2/3	-
2-152727064-G-A	CACNB4	c.680C>T	p.P227L	Missense	8/14	-
12-21032525-G-A	SLCO1B3	c.1291G>A	p.E431K	Missense	11/16	-
8-133883691-G-GA	TG	c.374dupA	p.D125Efs*8	Frameshift	4/48	-
16-84691417-G-A	KLHL36	c.1004G>A	p.R335Q	Missense	3/5	-
9-115030406-G-A	PTBP3	c.274C>T	p.H92Y	Missense	4/14	-
19-50666322-A-G	IZUMO2	c.130T>C	p.F44L	Missense	1/7	-
2-179435201-C-T	TTN	c.75658G>A	p.E25220K	Missense	326/363	-
19-50666320-G-T	IZUMO2	c.132C>A	p.F44L	Missense	1/7	-
19-50666320-G-C	IZUMO2	c.132C>G	p.F44L	Missense	1/7	-
7-142625286-G-A	TRPV5	c.806C>T	p.T269M	Missense	7/15	-
7-92734470-G-A	SAMD9	c.941C>T	p.S314F	Missense	3/3	-
7-150555974-C-T	AOC1	c.1694C>T	p.A565V	Missense	3/5	-
16-87902863-C-G	SLC7A5	c.166G>C	p.V56L	Missense	1/10	-
7-148769541-C-T	ZNF786	c.323G>A	p.G108E	Missense	4/4	-
19-48048089-C-T	ZNF541	c.1697G>A	p.R566Q	Missense	5/17	-
3-47284611-G-A	KIF9	c.1639C>T	p.R547W	Missense	16/21	-
18-3879726-G-A	DLGAP1	c.343C>T	p.R115C	Missense	4/13	-
11-1269625-A-G	MUC5B	c.11515A>G	p.T3839A	Missense	31/49	-
16-71065716-TG-CA	HYDIN	c.2633_2634delCAinsTG	p.T878M	Missense	19/86	-
12-21661380-C-T	GOLT1B	c.181C>T	p.Q61*	Nonsense	3/5	-
17-74878256-G-A	MGAT5B	c.205G>A	p.G69S	Missense	3/18	-
2-60688132-C-T	BCL11A	c.1915G>A	p.E639K	Missense	4/4	-
6-159653564-C-T	FNDC1	c.2020C>T	p.R674C	Missense	11/23	-
1-156880473-G-A	PEAR1	c.1889G>A	p.C630Y	Missense	15/23	-
15-75982329-A-T	CSPG4	c.1077T>A	p.S359R	Missense	3/10	-
16-27374882-C-T	IL4R	c.2209C>T	p.P737S	Missense	11/11	-
22-20126833-C-T	ZDHHC8	c.221C>T	p.P74L	Missense	2/11	-
1-21804713-C-T	NBPF3	c.1069C>T	p.P357S	Missense	9/15	-
22-45312279-C-T	PHF21B	c.445G>A	p.A149T	Missense	4/13	-
8-32585482-C-T	NRG1	c.518C>T	p.T173I	Missense	6/12	-
5-140799306-G-A	PCDHGB7	c.1880G>A	p.R627H	Missense	1/4	-
12-1748921-C-T	WNT5B	c.400C>T	p.R134C	Missense	4/5	-
16-66420787-G-A	CDH5	c.286G>A	p.D96N	Missense	3/12	-
19-3734432-G-A	TJP3	c.985G>A	p.V329M	Missense	8/21	-
1-118042091-G-A	MAN1A2	c.1592G>A	p.R531H	Missense	11/13	-
15-65499311-C-T	CILP	c.233G>A	p.R78H	Missense	4/9	-
7-150878460-G-A	ASB10	c.670C>T	p.R224W	Missense	3/6	-
13-38229379-C-T	TRPC4	c.1730G>A	p.G577E	Missense	7/11	-
5-140181887-A-G	PCDHA3	c.1105A>G	p.I369V	Missense	1/4	-
5-140481659-A-G	PCDHB3	c.1426A>G	p.T476A	Missense	1/1	-
1-186106993-G-A	HMCN1	c.13813G>A	p.G4605S	Missense	89/107	-
10-37447451-G-C	ANKRD30A	c.1837G>C	p.G613R	Missense	15/36	-
10-135015133-G-A	KNDC1	c.3118G>A	p.V1040I	Missense	17/30	-
12-52867233-C-G	KRT6C	c.289G>C	p.G97R	Missense	1/9	-
17-39197376-C-T	KRTAP1-1	c.274G>A	p.G92R	Missense	1/1	-
16-2161756-G-T	PKD1	c.3412C>A	p.L1138M	Missense	15/46	-
12-3047400-C-T	TULP3	c.1144C>T	p.R382W	Missense	10/11	-
6-7231675-G-A	RREB1	c.3343G>A	p.A1115T	Missense	10/13	-
17-7579853-T-TG	TP53	c.59_59dupC	p.D21Rfs*8	Frameshift	2/11	-
17-38859390-C-T	KRT24	c.556G>A	p.G186S	Missense	1/8	-
11-30034089-G-A	KCNA4	c.137C>T	p.A46V	Missense	2/2	-
1-16390053-C-T	FAM131C	c.101G>A	p.R34H	Missense	2/7	-
13-37012986-C-T	CCNA1	c.875C>T	p.A292V	Missense	5/9	-
11-46894741-C-T	LRP4	c.4493G>A	p.R1498Q	Missense	30/38	-
14-60193846-G-A	RTN1	c.1556C>T	p.P519L	Missense	3/9	-
4-89618605-C-T	NAP1L5	c.301G>A	p.E101K	Missense	1/1	-
16-84213388-G-A	TAF1C	c.1691C>T	p.A564V	Missense	15/15	-
15-72499574-C-T	PKM	c.881G>A	p.R294H	Missense	7/11	-
10-24890933-G-A	ARHGAP21	c.2821C>T	p.R941*	Nonsense	13/26	-
2-131976262-A-G	POTEE	c.287A>G	p.N96S	Missense	4/18	-
4-20525791-C-T	SLIT2	c.1429C>T	p.R477C	Missense	14/37	-
5-176308745-G-A	HK3	c.2341C>T	p.R781C	Missense	17/19	-
5-140590032-C-T	PCDHB12	c.1553C>T	p.S518L	Missense	1/1	-
6-65149231-G-A	EYS	c.5659C>T	p.R1887C	Missense	27/43	-
7-103155803-G-A	RELN	c.7948C>T	p.Q2650*	Nonsense	50/65	-
2-179481856-C-T	TTN	c.47866G>A	p.D15956N	Missense	255/363	-
11-34979108-G-A	PDHX	c.520G>A	p.E174K	Missense	4/11	-
X-122536928-G-A	GRIA3	c.1164G>A	p.M388I	Missense	8/16	-
7-95222120-G-A	PDK4	c.481C>T	p.R161*	Nonsense	4/11	-
11-35453921-C-T	PAMR1	c.2146G>A	p.E716K	Missense	11/11	-
11-6008092-C-T	OR52L1	c.69G>A	p.W23*	Nonsense	1/1	-
15-75120439-C-T	CPLX3	c.229C>T	p.R77*	Nonsense	2/3	-
19-17068697-G-A	CPAMD8	c.2383C>T	p.P748S	Missense	19/42	-
22-43933305-C-T	EFCAB6	c.4000G>A	p.E1334K	Missense	29/32	-
1-197890739-G-A	LHX9	c.683G>A	p.R228Q	Missense	3/5	-
5-140167488-G-A	PCDHA1	c.1613G>A	p.R538Q	Missense	1/4	-
X-22239741-G-A	PHEX	c.1780G>A	p.D594N	Missense	18/22	-
20-30681738-G-A	HCK	c.1165G>A	p.V389I	Missense	11/13	-
15-51696629-C-T	GLDN	c.1334C>T	p.S445L	Missense	10/10	-
22-50547273-G-A	MOV10L1	c.743G>A	p.R248Q	Missense	5/27	-
6-139488147-G-A	HECA	c.998G>A	p.R333K	Missense	2/4	-
10-82040048-C-T	MAT1A	c.430G>A	p.D144N	Missense	5/9	-
3-100976613-C-T	IMPG2	c.913G>A	p.V305I	Missense	10/19	-
12-52797572-C-T	KRT82	c.533G>A	p.R178Q	Missense	2/9	-
10-67680263-G-A	CTNNA3	c.2513C>T	p.P838L	Missense	18/18	-
1-3426464-G-A	MEGF6	c.1327C>T	p.R443W	Missense	11/37	-
7-2987278-C-T	CARD11	c.151G>A	p.V51I	Missense	3/25	-
6-158735092-C-T	TULP4	c.44C>T	p.S15F	Missense	1/14	-
19-51128505-C-T	SYT3	c.1621G>A	p.A541T	Missense	9/11	-
16-839326-A-G	CHTF18	c.403A>G	p.S135G	Missense	3/22	-
19-46280821-C-T	DMPK	c.910G>A	p.E304K	Missense	8/15	-
2-166866266-C-T	SCN1A	c.3965G>A	p.R1322K	Missense	23/29	-
5-102338777-G-A	PAM	c.1654G>A	p.G552R	Missense	17/26	-
12-29446398-G-A	FAR2	c.355G>A	p.D119N	Missense	3/12	-
5-102338777-G-C	PAM	c.1654G>C	p.G552R	Missense	17/26	-
7-83634709-C-T	SEMA3A	c.1306G>A	p.V436I	Missense	11/17	-
12-55040913-G-A	DCD	c.89C>T	p.S30L	Missense	2/5	-
7-88965924-C-T	ZNF804B	c.3628C>T	p.H1210Y	Missense	4/4	-
17-27287678-C-T	SEZ6	c.1421G>A	p.R474H	Missense	7/17	-
6-69703771-C-T	ADGRB3	c.1846C>T	p.L616F	Missense	11/32	-
14-105612106-G-A	JAG2	c.2914C>T	p.R972C	Missense	23/26	-
5-126154740-C-T	LMNB1	c.1066C>T	p.Q356*	Nonsense	6/11	-
13-109779691-G-A	MYO16	c.3844G>A	p.V1282M	Missense	31/35	-
19-6230661-C-G	MLLT1	c.340G>C	p.V114L	Missense	4/12	-
17-72860382-G-A	FDXR	c.890C>T	p.A297V	Missense	9/12	-
7-21744215-G-A	DNAH11	c.6437G>A	p.R2146H	Missense	38/82	-
1-226109743-G-A	PYCR2	c.355C>T	p.R119C	Missense	4/7	-
6-165715218-C-T	C6orf118	c.593G>A	p.R198Q	Missense	2/9	-
5-90079728-A-G	ADGRV1	c.13507A>G	p.S4503G	Missense	67/90	-
15-27185195-G-A	GABRA5	c.848G>A	p.R283Q	Missense	9/11	-
12-88449443-A-AT	CEP290	c.6869_6869dupA	p.N2290Kfs*6	Frameshift	50/54	-
17-41607528-A-G	ETV4	c.833T>C	p.M278T	Missense	9/13	-
17-7369681-C-T	ZBTB4	c.440G>A	p.R147Q	Missense	3/4	-
19-51162323-G-A	C19orf81	c.521G>A	p.R174H	Missense	5/5	-
5-140188222-G-A	PCDHA4	c.1450G>A	p.A484T	Missense	1/4	-
17-80333188-G-A	UTS2R	c.988G>A	p.V330M	Missense	3/3	-
X-75649900-G-A	MAGEE1	c.1577G>A	p.R526H	Missense	1/1	-
2-29294436-C-T	PCARE	c.2692G>A	p.A898T	Missense	1/2	-
5-140166141-G-A	PCDHA1	c.266G>A	p.R89Q	Missense	1/4	-
22-45312243-C-T	PHF21B	c.481G>A	p.A161T	Missense	4/13	-
1-162336895-G-A	NOS1AP	c.1159G>A	p.V387M	Missense	10/10	-
16-321291-C-T	RGS11	c.773G>A	p.R258H	Missense	12/17	-
11-113860324-C-T	HTR3A	c.1294C>T	p.R432W	Missense	9/9	-
9-32784629-G-A	TMEM215	c.448G>A	p.V150I	Missense	2/2	-
2-200213630-C-T	SATB2	c.967G>A	p.V323I	Missense	7/11	-
8-134030170-C-T	TG	c.6710C>T	p.P2237L	Missense	38/48	-
12-49435198-C-CG	KMT2D	c.6354_6354dupC	p.A2119Rfs*36	Frameshift	32/55	-
18-77246608-C-T	NFATC1	c.2453C>T	p.P818L	Missense	9/10	-
2-68873206-G-A	PROKR1	c.253G>A	p.A85T	Missense	2/3	-
16-31092696-G-A	ZNF646	c.5051G>A	p.R1684H	Missense	2/3	-
1-3753231-C-T	CEP104	c.1145G>A	p.R382Q	Missense	10/22	-
19-55285027-A-C	KIR2DL1	c.313A>C	p.T105P	Missense	3/8	-
2-33747056-A-T	RASGRP3	c.403A>T	p.R135W	Missense	7/18	-
1-40035661-A-G	PABPC4	c.517T>C	p.F173L	Missense	4/16	-
6-122720920-A-G	HSF2	c.38A>G	p.K13R	Missense	1/13	-
8-144892882-C-T	SCRIB	c.1378G>A	p.A460T	Missense	12/37	-
4-110581386-G-A	MCUB	c.211G>A	p.V71I	Missense	3/8	-
9-87338515-C-T	NTRK2	c.611C>T	p.P204L	Missense	7/19	-
1-145460102-A-G	POLR3GL	c.121T>C	p.F41L	Missense	2/8	-
10-13337503-G-A	PHYH	c.238C>T	p.R80C	Missense	3/9	-
2-45169246-G-A	SIX3	c.3G>A	p.M1?	Missense	1/2	-
X-135741404-C-T	CD40LG	c.616C>T	p.L206F	Missense	5/5	-
8-139635976-G-A	COL22A1	c.3770C>T	p.P1257L	Missense	52/65	-
1-204236637-G-T	PLEKHA6	c.246C>A	p.F82L	Missense	5/23	-
X-5821547-G-A	NLGN4X	c.1172C>T	p.T391M	Missense	5/6	-
7-123324618-T-G	WASL	c.1473A>C	p.E491D	Missense	11/11	-
7-123324618-T-A	WASL	c.1473A>T	p.E491D	Missense	11/11	-
2-127453627-C-T	GYPC	c.296C>T	p.T99M	Missense	4/4	-
8-2071446-G-A	MYOM2	c.3586G>A	p.G1196S	Missense	30/37	-
5-153078482-G-A	GRIA1	c.1301G>A	p.R434H	Missense	10/16	-
X-123480568-G-A	SH2D1A	c.76G>A	p.D26N	Missense	1/4	-
12-71029509-C-G	PTPRB	c.393G>C	p.M131I	Missense	2/34	-
17-56492701-C-T	RNF43	c.238G>A	p.G80R	Missense	2/10	-
17-56492701-C-G	RNF43	c.238G>C	p.G80R	Missense	2/10	-
16-3900422-G-A	CREBBP	c.674C>T	p.P225L	Missense	2/31	-
2-170038125-G-T	LRP2	c.10002C>A	p.Y3334*	Nonsense	52/79	-
22-30766747-C-T	CCDC157	c.853C>T	p.R285C	Missense	5/12	-
1-85736384-C-T	BCL10	c.263G>A	p.R88Q	Missense	2/3	-
8-12957048-G-A	DLC1	c.2798C>T	p.S933L	Missense	9/18	-
X-151303216-G-A	MAGEA10	c.877C>T	p.R293W	Missense	4/4	-
11-118502687-C-T	PHLDB1	c.2158C>T	p.R720W	Missense	8/23	-
3-44408959-G-A	TCAIM	c.331G>A	p.V111I	Missense	5/11	-
21-10951387-T-C	TPTE	c.325A>G	p.I109V	Missense	10/24	-
6-31777883-C-G	HSPA1L	c.1867G>C	p.G623R	Missense	2/2	-
19-39664564-G-A	PAK4	c.1012G>A	p.A338T	Missense	5/10	-
8-143866833-G-A	LY6D	c.191C>T	p.A64V	Missense	3/3	-
5-176794809-G-A	RGS14	c.722G>A	p.R241H	Missense	7/15	-
3-48282704-G-A	ZNF589	c.43G>A	p.A15T	Missense	1/4	-
X-114426459-G-A	RBMXL3	c.2455G>A	p.E819K	Missense	1/1	-
22-33712173-C-T	LARGE1	c.1349G>A	p.R450H	Missense	11/15	-
14-74988688-C-T	LTBP2	c.2714G>A	p.R905H	Missense	17/36	-
1-237729917-C-T	RYR2	c.3265C>T	p.R1089C	Missense	28/105	-
3-119886714-C-T	GPR156	c.1610G>A	p.R537Q	Missense	10/10	-
18-5406785-GAC-CAT	EPB41L3	c.2338_2340delGTCinsATG	p.V780M	Missense	16/23	-
1-6505837-CAGCTT-C	ESPN	c.1306_1310delAGCTT	p.S436Pfs*31	Frameshift	7/13	-
11-60637062-G-A	ZP1	c.371G>A	p.R124H	Missense	3/12	-
17-72436319-C-T	GPRC5C	c.539C>T	p.A135V	Missense	2/4	-
1-149879372-G-A	SV2A	c.1558C>T	p.R520W	Missense	10/13	-
1-120056657-G-C	HSD3B1	c.511G>C	p.G171R	Missense	4/4	-
11-55798142-C-A	OR5AS1	c.248C>A	p.A83E	Missense	2/2	-
17-11835418-C-T	DNAH9	c.12193C>T	p.R4065*	Nonsense	64/69	-
15-91337583-C-A	BLM	c.3206C>A	p.T1069K	Missense	16/22	-
2-220336997-C-T	SPEG	c.3884C>T	p.T1295M	Missense	15/41	-
19-58101870-AG-CA	ZIK1	c.691_692delAGinsCA	p.R231Q	Missense	4/4	-
3-195506137-A-G	MUC4	c.12314T>C	p.V4105A	Missense	2/25	-
4-169194506-G-A	DDX60	c.2498C>T	p.T833M	Missense	18/38	-
19-19033453-G-A	DDX49	c.676G>A	p.V226M	Missense	6/13	-
12-108589869-G-A	WSCD2	c.260G>A	p.R87H	Missense	2/9	-
11-66392785-A-G	RBM14	c.1438A>G	p.M480V	Missense	2/3	-
11-110108333-G-A	RDX	c.1135C>T	p.R379*	Nonsense	11/14	-
1-32745559-C-T	LCK	c.1159C>T	p.R387C	Missense	11/13	-
17-74003402-C-G	EVPL	c.5884G>C	p.G1962R	Missense	22/22	-
21-35260555-C-T	ITSN1	c.5117C>T	p.T1706M	Missense	40/40	-
2-233345850-G-A	ECEL1	c.2006C>T	p.T669M	Missense	15/18	-
3-73440201-C-T	PDZRN3	c.1321G>A	p.D441N	Missense	6/10	-
2-107459655-C-T	ST6GAL2	c.779G>A	p.R260H	Missense	2/6	-
12-64827339-A-G	XPOT	c.2408A>G	p.Q803R	Missense	19/25	-
19-39016131-C-T	RYR1	c.10615C>T	p.R3539C	Missense	71/106	-
2-165947775-G-A	SCN3A	c.4888C>T	p.R1630*	Nonsense	28/28	-
17-7806722-C-T	CHD3	c.3628C>T	p.R1210W	Missense	23/40	-
22-32011096-G-A	SFI1	c.3131G>A	p.R1044Q	Missense	29/33	-
22-37771205-G-A	ELFN2	c.370C>T	p.R124*	Nonsense	3/3	-
12-31254896-C-T	DDX11	c.2182C>T	p.R728C	Missense	21/27	-
10-98808813-C-T	SLIT1	c.1364G>A	p.R455H	Missense	14/37	-
14-25075943-C-G	GZMH	c.607G>C	p.G203R	Missense	5/5	-
12-103352210-C-T	ASCL1	c.188C>T	p.A63V	Missense	1/2	-
14-90651085-G-A	KCNK13	c.965G>A	p.R322H	Missense	2/2	-
19-8619539-G-A	MYO1F	c.230C>T	p.A77V	Missense	3/28	-
4-96761509-C-T	PDHA2	c.208C>T	p.R70C	Missense	1/1	-
16-29821422-C-T	MAZ	c.1304C>T	p.A435V	Missense	5/5	-
5-33576173-C-G	ADAMTS12	c.3958G>C	p.G1320R	Missense	19/24	-
7-117431532-G-A	CTTNBP2	c.1718C>T	p.S573L	Missense	4/23	-
3-49162597-A-G	LAMB2	c.2726T>C	p.I909T	Missense	20/32	-
20-58519203-G-A	FAM217B	c.205G>A	p.G69R	Missense	4/4	-
9-137681031-G-A	COL5A1	c.2677G>A	p.A893T	Missense	32/66	-
X-33229399-A-G	DMD	c.31T>C	p.Y11H	Missense	1/79	-
1-235866225-G-A	LYST	c.10196C>T	p.A3399V	Missense	45/53	-
20-58519203-G-C	FAM217B	c.205G>C	p.G69R	Missense	4/4	-
8-37823637-G-C	ADRB3	c.351C>G	p.D117E	Missense	1/2	-
7-45141592-C-T	TBRG4	c.1399G>A	p.E467K	Missense	8/11	-
17-10536068-G-A	MYH3	c.4681C>T	p.R1561*	Nonsense	34/41	-
3-50332609-C-T	HYAL3	c.425G>A	p.R142H	Missense	2/4	-
4-5664911-C-A	EVC2	c.1068G>T	p.E356D	Missense	9/22	-
X-78622682-C-T	ITM2A	c.31G>A	p.A11T	Missense	1/6	-
12-45429828-C-T	DBX2	c.473G>A	p.R158H	Missense	2/4	-
5-140215617-C-T	PCDHA7	c.1649C>T	p.T550M	Missense	1/4	-
15-31355430-C-T	TRPM1	c.856G>A	p.V286I	Missense	8/28	-
7-117876122-G-A	ANKRD7	c.496G>A	p.V166I	Missense	4/7	-
1-208073270-G-A	CD34	c.158C>T	p.S53F	Missense	2/8	-
17-30315412-A-G	SUZ12	c.1097A>G	p.N366S	Missense	10/16	-
10-97170392-C-T	SORBS1	c.953G>A	p.R318Q	Missense	10/33	-
15-67664963-G-A	IQCH	c.1268G>A	p.R423H	Missense	9/21	-
12-34175667-G-A	ALG10	c.133G>A	p.A45T	Missense	1/3	-
9-136599114-C-T	SARDH	c.182G>A	p.R61Q	Missense	2/21	-
19-40423979-G-A	FCGBP	c.2224C>T	p.P742S	Missense	4/36	-
6-37787753-C-A	ZFAND3	c.32C>A	p.A11E	Missense	1/6	-
19-57803557-G-A	ZNF460	c.1648G>A	p.D550N	Missense	3/3	-
X-12817345-G-A	PRPS2	c.142G>A	p.V48M	Missense	2/7	-
1-176525829-A-C	PAPPA2	c.371A>C	p.E124A	Missense	2/23	-
20-33706456-C-G	EDEM2	c.1181G>C	p.R394T	Missense	10/11	-
7-23293793-C-T	GPNMB	c.229C>T	p.R77C	Missense	3/11	-
17-21319295-G-A	KCNJ12	c.641G>A	p.R214H	Missense	3/3	-
8-144944288-G-A	EPPK1	c.3134C>T	p.A1045V	Missense	2/3	-
X-122532539-G-A	GRIA3	c.965G>A	p.R322H	Missense	7/16	-
19-36351898-C-T	KIRREL2	c.1016C>T	p.P339L	Missense	8/15	-
8-132052293-G-A	ADCY8	c.287C>T	p.P96L	Missense	1/18	-
5-140208682-G-A	PCDHA6	c.1006G>A	p.V336I	Missense	1/4	-
22-30660198-C-T	OSM	c.433G>A	p.G145R	Missense	3/3	-
5-136961459-G-A	KLHL3	c.1718C>T	p.T573M	Missense	14/15	-
22-30660198-C-G	OSM	c.433G>C	p.G145R	Missense	3/3	-
10-100481555-C-T	HPSE2	c.815G>A	p.R272Q	Missense	5/12	-
16-9943628-T-C	GRIN2A	c.1313A>G	p.K438R	Missense	5/13	-
18-48575168-TA-T	SMAD4	c.366delA	p.K122Nfs*7	Frameshift	3/12	-
5-140595112-G-A	PCDHB13	c.1417G>A	p.V473I	Missense	1/1	-
19-53014533-C-T	ZNF578	c.899C>T	p.S300L	Missense	6/6	-
9-990887-G-A	DMRT3	c.1301G>A	p.R434Q	Missense	2/2	-
1-27101657-G-T	ARID1A	c.4939G>T	p.E1647*	Nonsense	18/20	-
20-33464491-C-G	ACSS2	c.43C>G	p.R15G	Missense	1/18	-
20-2635080-C-T	NOP56	c.229C>T	p.R77C	Missense	4/12	-
19-1003606-C-T	GRIN3B	c.904C>T	p.R302W	Missense	2/9	-
20-33470746-C-G	ACSS2	c.328C>G	p.R110G	Missense	2/18	-
X-38540492-C-T	TSPAN7	c.632C>T	p.T211I	Missense	6/8	-
8-10480174-C-T	RP1L1	c.538G>A	p.A180T	Missense	2/4	-
21-31692092-C-T	KRTAP26-1	c.262G>A	p.V88M	Missense	1/1	-
9-125282255-C-T	OR1J4	c.836C>T	p.T279M	Missense	1/1	-
9-84205928-C-T	TLE1	c.1621G>A	p.D541N	Missense	16/20	-
7-4801881-G-A	FOXK1	c.1988G>A	p.R663Q	Missense	9/9	-
16-54319791-C-T	IRX3	c.172G>A	p.G58R	Missense	1/4	-
16-54319791-C-G	IRX3	c.172G>C	p.G58R	Missense	1/4	-
16-20809321-G-A	ERI2	c.1801C>T	p.R601W	Missense	9/9	-
9-2719094-C-T	KCNV2	c.1355C>T	p.A452V	Missense	1/2	-
11-55890179-G-A	OR8H3	c.331G>A	p.E111K	Missense	1/1	-
6-37250011-C-T	TBC1D22B	c.472C>T	p.R158W	Missense	4/13	-
11-55595043-G-A	OR5L2	c.349G>A	p.V117M	Missense	1/1	-
9-107380390-G-C	OR13C9	c.96C>G	p.F32L	Missense	1/1	-
9-107380392-A-G	OR13C9	c.94T>C	p.F32L	Missense	1/1	-
11-55563530-C-T	OR5D14	c.499C>T	p.R167W	Missense	1/1	-
14-20404495-G-A	OR4K1	c.670G>A	p.G224S	Missense	2/2	-
19-9225748-G-A	OR7G1	c.692C>T	p.A231V	Missense	1/1	-
11-123777604-G-T	OR8D4	c.466G>T	p.A156S	Missense	2/2	-
11-51411918-C-A	OR4A5	c.478G>T	p.V160L	Missense	1/1	-
12-55846355-C-T	OR6C2	c.358C>T	p.R120C	Missense	2/2	-
19-15198240-C-T	OR1I1	c.364C>T	p.R122C	Missense	2/2	-
1-247921369-G-A	OR1C1	c.340C>T	p.L114F	Missense	2/2	-
11-4825015-C-T	OR52R1	c.596G>A	p.R199H	Missense	1/1	-
7-94052321-G-A	COL1A2	c.2456G>A	p.R819H	Missense	40/52	-
3-52598124-C-A	PBRM1	c.3742G>T	p.G1248*	Nonsense	24/30	-
10-108923825-G-A	SORCS1	c.460C>T	p.R154W	Missense	1/26	-
17-7722377-G-A	DNAH2	c.10811G>A	p.R3604Q	Missense	71/86	-
8-26248802-T-G	BNIP3L	c.144T>G	p.D48E	Missense	2/6	-
8-26248802-T-A	BNIP3L	c.144T>A	p.D48E	Missense	2/6	-
22-32550285-G-A	C22orf42	c.253C>T	p.R85C	Missense	2/9	-
17-36626143-G-A	ARHGAP23	c.1972G>A	p.G658R	Missense	10/24	-
2-1481141-C-T	TPO	c.1103C>T	p.P368L	Missense	8/17	-
1-17298083-C-T	CROCC	c.5908C>T	p.R1970C	Missense	36/37	-
19-3823327-C-T	ZFR2	c.1288G>A	p.G430R	Missense	8/19	-
17-36626143-G-C	ARHGAP23	c.1972G>C	p.G658R	Missense	10/24	-
6-138575082-C-T	ARFGEF3	c.731C>T	p.S244F	Missense	9/34	-
6-32008861-C-T	CYP21A2	c.1438C>T	p.R480W	Missense	10/10	-
7-99170522-G-A	ZNF655	c.791G>A	p.R264K	Missense	3/3	-
5-109103253-G-A	MAN2A1	c.853G>A	p.G285S	Missense	6/22	-
7-99170627-G-A	ZNF655	c.896G>A	p.R299K	Missense	3/3	-
13-96624885-C-T	UGGT2	c.1133G>A	p.R378H	Missense	11/39	-
X-119005396-C-T	RNF113A	c.181G>A	p.V61M	Missense	1/1	-
19-17411870-C-T	ABHD8	c.556G>A	p.G186S	Missense	2/5	-
10-98312794-T-C	TM9SF3	c.683A>G	p.N228S	Missense	6/15	-
5-143200126-G-A	HMHB1	c.119G>A	p.R40K	Missense	2/2	-
17-5462182-C-T	NLRP1	c.1834G>A	p.E612K	Missense	4/17	-
6-146480576-G-A	GRM1	c.793G>A	p.A265T	Missense	2/8	-
7-5428871-G-A	TNRC18	c.584C>T	p.P195L	Missense	5/30	-
7-1786544-G-A	ELFN1	c.2312G>A	p.R771Q	Missense	3/3	-
19-11660435-C-T	CNN1	c.719C>T	p.T240M	Missense	7/7	-
11-55136325-G-C	OR4A15	c.966G>C	p.M322I	Missense	1/1	-
14-51375055-C-A	PYGL	c.2313G>T	p.R771S	Missense	19/20	-
17-71411961-G-A	SDK2	c.2357C>T	p.T786M	Missense	17/45	-
X-123554353-C-T	TENM1	c.4790G>A	p.R1597H	Missense	25/32	-
15-101591963-G-A	LRRK1	c.3487G>A	p.V1163M	Missense	24/34	-
1-3624288-A-G	TP73	c.362A>G	p.Y121C	Missense	4/14	-
12-21355533-C-T	SLCO1B1	c.1244C>T	p.A415V	Missense	10/15	-
15-77907420-C-A	LINGO1	c.829G>T	p.A277S	Missense	2/2	-
21-19775880-C-T	TMPRSS15	c.60G>A	p.M20I	Missense	1/25	-
1-41327334-C-A	CITED4	c.466G>T	p.E156*	Nonsense	1/1	-
11-55136325-G-T	OR4A15	c.966G>T	p.M322I	Missense	1/1	-
11-7723833-A-C	OVCH2	c.334T>G	p.L112V	Missense	4/17	-
2-179468853-C-T	TTN	c.54561G>A	p.W18187*	Nonsense	282/363	-
10-101825000-C-T	CPN1	c.704G>A	p.R235Q	Missense	4/9	-
14-35585934-C-CT	PPP2R3C	c.67_67dup	p.S23Kfs*2	SpliceAcceptorInsertion	-	-
2-170009454-G-A	LRP2	c.12316C>T	p.R4106*	Nonsense	67/79	-
19-12995709-C-T	KLF1	c.1079G>A	p.R360H	Missense	3/3	-
9-131581001-G-A	ENDOG	c.38G>A	p.G13D	Missense	1/3	-
3-8607263-A-C	LMCD1	c.869A>C	p.K290T	Missense	5/6	-
7-99627986-G-A	ZKSCAN1	c.787G>A	p.A263T	Missense	5/6	-
4-101947162-AAGCCCTT-A	PPP3CA	c.1420_1426delAAGGGCT	p.K474*	Frameshift	14/14	-
8-37734757-C-A	RAB11FIP1	c.684G>T	p.K228N	Missense	2/6	-
2-171242744-G-A	MYO3B	c.1336G>A	p.A446T	Missense	13/35	-
5-63802491-C-T	RGS7BP	c.40C>T	p.R14W	Missense	1/6	-
9-139944734-AC-A	ENTPD2	c.1029+1delG	-	Frameshift	6/9	-
12-54115967-TTCTACAGGCAGCAGAAGGAGAAGGGGAGTGTGCTGGTGGAGTACCCCTTCTAAGGTCCC-T	CALCOCO1	c.449_453del1414	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	5/15	4/14
2-152450815-AACCTTCTTTGTATTTGTACTAAAGTAGTAAGAAATCATATTAAAAAGACATATGAAAAT-A	NEB	c.14176_14223del1789	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	93/182	92/181
3-148562551-TGTG-T	CPB1	c.778_778+2delGGT	-	SpliceDonorDeletion	8/11	8/10
3-38604008-CAC-GAT	SCN5A	c.3856_3858delGTGinsATC	p.V1286I	Missense	22/28	-
7-87530087-C-A	DBF4	c.818C>A	p.T273K	Missense	10/12	-
16-11051762-A-AT	CLEC16A	c.206_206dupT	p.D70*	SpliceDonorInsertion	2/24	-
6-84366563-TTTGTTAGTTCATTTGGATGCAC-T	SNAP91	c.547_568del22	p.V183Mfs*4	SpliceAcceptorDeletion	7/30	-
6-90434919-CTGAGTGAATCTGTTAAGGAAAGACCTG-C	MDN1	c.5643_5669del27	p.R1882_Q1890del	SpliceDonorDeletion	38/102	-
1-200587488-G-A	KIF14	c.364C>T	p.Q122*	Nonsense	2/30	-
14-62188472-C-A	HIF1A	c.388C>A	p.H130N	Missense	4/15	-
3-12647736-C-T	RAF1	c.644G>A	p.R215H	Missense	6/17	-
3-41746787-T-A	ULK4	c.2645A>T	p.K882I	Missense	26/37	-
2-37121091-G-A	STRN	c.881C>T	p.S294L	Missense	7/18	-
4-113199437-C-G	TIFA	c.136G>C	p.V46L	Missense	2/2	-
4-113199437-C-A	TIFA	c.136G>T	p.V46L	Missense	2/2	-
5-38950660-C-A	RICTOR	c.3290G>T	p.R1097L	Missense	31/38	-
2-171902835-C-G	TLK1	c.1018G>C	p.E340Q	Missense	11/21	-
7-6449885-G-T	DAGLB	c.1696C>A	p.L566M	Missense	14/15	-
7-6456376-G-T	DAGLB	c.1309C>A	p.L437M	Missense	11/15	-
2-70502705-C-T	PCYOX1	c.766C>T	p.L256F	Missense	5/6	-
6-130535576-A-T	SAMD3	c.175T>A	p.L59I	Missense	4/12	-
6-130535648-G-T	SAMD3	c.103C>A	p.L35I	Missense	4/12	-
7-73254749-G-A	METTL27	c.383C>T	p.P128L	Missense	4/6	-
7-100635516-C-T	MUC12	c.1672C>T	p.P558S	Missense	2/12	-
8-100654290-G-C	VPS13B	c.5472G>C	p.M1824I	Missense	34/62	-
8-100654290-G-A	VPS13B	c.5472G>A	p.M1824I	Missense	34/62	-
8-100654290-G-T	VPS13B	c.5472G>T	p.M1824I	Missense	34/62	-
5-35700836-C-T	SPEF2	c.2380C>T	p.R794C	Missense	16/37	-
7-4874822-G-A	RADIL	c.832C>T	p.R278W	Missense	4/15	-
2-113786532-G-A	IL36B	c.245C>T	p.P82L	Missense	4/6	-
4-88243932-G-A	HSD17B13	c.62C>T	p.S21L	Missense	1/7	-
8-100654403-C-A	VPS13B	c.5585C>A	p.P1862H	Missense	34/62	-
9-35546531-C-T	RUSC2	c.13C>T	p.P5S	Missense	2/12	-
12-72666844-G-A	TRHDE	c.286G>A	p.A141T	Missense	1/19	-
8-133899372-C-G	TG	c.1755C>G	p.I585M	Missense	9/48	-
10-15648386-G-C	ITGA8	c.1800C>G	p.I600M	Missense	18/30	-
12-3806087-C-T	CRACR2A	c.79G>A	p.G27R	Missense	4/20	-
12-3806087-C-G	CRACR2A	c.79G>C	p.G27R	Missense	4/20	-
14-101349519-C-T	RTL1	c.1607G>A	p.R536H	Missense	4/4	-
18-2885102-C-T	EMILIN2	c.398C>T	p.P133L	Missense	3/8	-
11-56043357-G-T	OR5T1	c.243G>T	p.L81F	Missense	3/3	-
11-56043357-G-C	OR5T1	c.243G>C	p.L81F	Missense	3/3	-
10-16919028-A-G	CUBN	c.8974T>C	p.S2992P	Missense	57/67	-
21-43176875-A-C	RIPK4	c.284T>G	p.V95G	Missense	2/8	-
9-140508790-C-T	ARRDC1	c.658C>T	p.R220W	Missense	6/8	-
9-97216268-C-A	MFSD14B	c.944C>A	p.S315*	Nonsense	9/12	-
9-97216268-C-G	MFSD14B	c.944C>G	p.S315*	Nonsense	9/12	-
1-12475164-C-A	VPS13D	c.12055C>A	p.P4019T	Missense	64/70	-
9-37430632-C-G	GRHPR	c.723C>G	p.I241M	Missense	7/9	-
8-107718755-G-A	OXR1	c.1006G>A	p.E336K	Missense	9/17	-
1-27683536-G-C	MAP3K6	c.3328C>G	p.R1110G	Missense	24/29	-
1-152188470-A-T	HRNR	c.5635T>A	p.W1879R	Missense	3/3	-
1-152188470-A-G	HRNR	c.5635T>C	p.W1879R	Missense	3/3	-
1-152883269-A-T	IVL	c.996A>T	p.Q332H	Missense	2/2	-
1-152883269-A-C	IVL	c.996A>C	p.Q332H	Missense	2/2	-
1-161087798-G-T	PFDN2	c.19C>A	p.R7S	Missense	1/4	-
20-57248740-TGAA-T	STX16	c.849_851delAGA	p.E283del	InFrameDeletion	8/9	-
2-186656830-CAGA-C	FSIP2	c.5236_5238delGAA	p.E1657del	InFrameDeletion	16/23	-
4-53525282-CCATATTACAGATG-C	USP46	c.24_36del13	p.I9Afs*65	SpliceDonorDeletion	1/9	-
3-101571828-T-TACC	NFKBIZ	c.559_560insACC	p.F187delinsYL	MultiAAMissense	4/12	-
7-4008963-G-A	SDK1	c.1621G>A	p.A541T	Missense	11/45	-
7-72742660-C-T	FKBP6	c.140C>T	p.A47V	Missense	2/9	-
7-87082392-A-G	ABCB4	c.404T>C	p.V135A	Missense	6/28	-
20-44045258-C-T	PIGT	c.289C>T	p.R97*	Nonsense	2/12	-
8-100654424-C-G	VPS13B	c.5606C>G	p.T1869R	Missense	34/62	-
7-44556433-G-T	NPC1L1	c.3388C>A	p.L1130M	Missense	16/19	-
9-34637367-G-C	SIGMAR1	c.202C>G	p.L68V	Missense	2/4	-
21-35467709-C-T	SLC5A3	c.212C>T	p.S71F	Missense	2/2	-
9-79324491-T-C	PRUNE2	c.2699A>G	p.Q900R	Missense	8/19	-
19-36352097-C-T	KIRREL2	c.1130C>T	p.A377V	Missense	9/15	-
9-107380390-G-T	OR13C9	c.96C>A	p.F32L	Missense	1/1	-
16-2229700-C-G	CASKIN1	c.3669G>C	p.K1223N	Missense	18/20	-
16-2229700-C-A	CASKIN1	c.3669G>T	p.K1223N	Missense	18/20	-
18-18546911-G-A	ROCK1	c.3319C>T	p.P1107S	Missense	27/33	-
11-124007889-C-T	VWA5A	c.1793C>T	p.P598L	Missense	15/19	-
8-20005541-T-C	SLC18A1	c.1187A>G	p.N396S	Missense	13/16	-
7-6370326-G-A	FAM220A	c.460C>T	p.R154*	Nonsense	2/2	-
8-67478963-C-A	MYBL1	c.1906G>T	p.E636*	Nonsense	14/16	-
8-67478966-C-A	MYBL1	c.1903G>T	p.E635*	Nonsense	14/16	-
12-52943829-C-A	KRT71	c.640G>T	p.E214*	Nonsense	2/9	-
21-45217813-C-T	RRP1	c.643C>T	p.R215*	Nonsense	8/13	-
16-50667202-G-A	NKD1	c.923G>A	p.R308Q	Missense	10/10	-
20-47733767-G-A	STAU1	c.1528C>T	p.P510S	Missense	12/14	-
20-57251327-G-T	STX16	c.958G>T	p.V320F	Missense	9/9	-
17-48701726-G-A	CACNA1G	c.6235G>A	p.V2079I	Missense	37/38	-
2-203149167-C-A	NOP58	c.397C>A	p.R133S	Missense	5/15	-
20-57248693-G-T	STX16	c.799G>T	p.V267F	Missense	8/9	-
2-71376495-G-A	MPHOSPH10	c.1808G>A	p.S603N	Missense	10/11	-
21-47588297-G-A	SPATC1L	c.469C>T	p.R157W	Missense	3/5	-
2-21225261-A-G	APOB	c.13033T>C	p.F4345L	Missense	29/29	-
2-21225259-A-T	APOB	c.13035T>A	p.F4345L	Missense	29/29	-
2-21225259-A-C	APOB	c.13035T>G	p.F4345L	Missense	29/29	-
22-39224360-C-T	NPTXR	c.782G>A	p.R261H	Missense	2/5	-
1-220192417-C-A	EPRS1	c.1354G>T	p.D452Y	Missense	11/32	-
9-80343565-T-A	GNAQ	c.754A>T	p.K252*	Nonsense	6/7	-
7-103216027-G-A	RELN	c.4271C>T	p.S1424L	Missense	29/65	-
1-92772753-C-A	RPAP2	c.408C>A	p.C136*	Nonsense	6/13	-
1-72058503-T-A	NEGR1	c.937A>T	p.N313Y	Missense	6/7	-
X-71825191-C-G	PHKA1	c.2745G>C	p.M915I	Missense	25/32	-
X-71825191-C-T	PHKA1	c.2745G>A	p.M915I	Missense	25/32	-
X-71825191-C-A	PHKA1	c.2745G>T	p.M915I	Missense	25/32	-
7-106827029-T-C	HBP1	c.668T>C	p.F223S	Missense	6/11	-
1-11596651-G-A	DISP3	c.4087G>A	p.V1363M	Missense	21/21	-
X-73962336-C-A	NEXMIF	c.2056G>T	p.A686S	Missense	3/4	-
X-103499077-C-G	ESX1	c.264G>C	p.E88D	Missense	2/4	-
X-103499077-C-A	ESX1	c.264G>T	p.E88D	Missense	2/4	-
19-1009462-G-A	GRIN3B	c.2993G>A	p.R998H	Missense	9/9	-
19-3978008-G-T	EEF2	c.1876C>A	p.Q626K	Missense	12/15	-
12-122685869-C-CA	LRRC43	c.1837_1837dupA	p.E615Rfs*17	SpliceDonorInsertion	11/12	-
12-49938120-G-T	KCNH3	c.1144G>T	p.G382C	Missense	7/15	-
12-109610095-T-G	ACACB	c.1051T>G	p.W351G	Missense	6/53	-
12-27841328-G-A	PPFIBP1	c.2468G>A	p.R823K	Missense	26/30	-
8-70585313-C-T	SLCO5A1	c.2338G>A	p.V780M	Missense	10/10	-
12-45000982-G-C	NELL2	c.1633C>G	p.Q545E	Missense	15/20	-
17-56439973-C-G	RNF43	c.619G>C	p.G207R	Missense	6/10	-
19-3982033-T-C	EEF2	c.809A>G	p.N270S	Missense	6/15	-
19-11492770-C-T	EPOR	c.263G>A	p.W88*	Nonsense	3/8	-
19-11492769-C-T	EPOR	c.264G>A	p.W88*	Nonsense	3/8	-
19-17305691-G-A	MYO9B	c.3455G>A	p.R1152Q	Missense	22/40	-
19-49684698-C-G	TRPM4	c.1243C>G	p.R415G	Missense	10/25	-
22-18905949-C-T	PRODH	c.1307G>A	p.C436Y	Missense	11/14	-
X-118717099-G-C	UBE2A	c.340G>C	p.D114H	Missense	6/6	-
X-118716559-G-C	UBE2A	c.250G>C	p.D84H	Missense	5/6	-
1-27278022-G-A	KDF1	c.850C>T	p.Q284*	Nonsense	2/4	-
1-35921769-A-G	KIAA0319L	c.1501T>C	p.Y501H	Missense	10/21	-
1-86210381-T-A	COL24A1	c.4640A>T	p.D1547V	Missense	57/60	-
1-154437768-A-T	IL6R	c.1319A>T	p.D440V	Missense	10/10	-
13-60548567-G-C	DIAPH3	c.1569C>G	p.H523Q	Missense	15/28	-
2-120003271-C-G	STEAP3	c.229C>G	p.L77V	Missense	3/6	-
2-149541266-A-T	EPC2	c.1958A>T	p.E653V	Missense	12/14	-
10-30316391-T-G	JCAD	c.2686A>C	p.M896L	Missense	3/4	-
10-30316391-T-A	JCAD	c.2686A>T	p.M896L	Missense	3/4	-
2-228771960-C-A	DAW1	c.965C>A	p.S322*	Nonsense	10/13	-
2-228771960-C-G	DAW1	c.965C>G	p.S322*	Nonsense	10/13	-
3-9989188-G-T	PRRT3	c.1669C>A	p.L557M	Missense	4/4	-
5-36166656-C-G	SKP2	c.428C>G	p.T143R	Missense	4/10	-
5-168112796-C-T	SLIT3	c.3451G>A	p.G1151S	Missense	31/36	-
12-57397144-A-T	ZBTB39	c.1558T>A	p.W520R	Missense	2/2	-
12-57397144-A-G	ZBTB39	c.1558T>C	p.W520R	Missense	2/2	-
6-24572918-C-A	KIAA0319	c.1743G>T	p.Q581H	Missense	11/21	-
6-24572918-C-G	KIAA0319	c.1743G>C	p.Q581H	Missense	11/21	-
10-62648105-C-T	RHOBTB1	c.1321G>A	p.E441K	Missense	6/11	-
12-52374822-G-C	ACVR1B	c.650G>C	p.R217P	Missense	4/9	-
11-102220782-G-A	BIRC2	c.197G>A	p.S66N	Missense	2/9	-
11-1491586-G-A	MOB2	c.623C>T	p.T208M	Missense	5/5	-
11-7711238-G-T	OVCH2	c.1646C>A	p.P549Q	Missense	16/17	-
10-99211556-G-A	ZDHHC16	c.124G>A	p.G42S	Missense	3/12	-
12-50869559-G-C	LARP4	c.2087G>C	p.R696T	Missense	16/16	-
6-152470769-T-G	SYNE1	c.24485A>C	p.K8162T	Missense	136/146	-
7-5105171-A-G	RBAK	c.2084A>G	p.N695S	Missense	5/5	-
7-139827285-G-T	KDM7A	c.658C>A	p.P220T	Missense	5/20	-
12-50869577-G-C	LARP4	c.2105G>C	p.R702T	Missense	16/16	-
10-23482181-G-A	PTF1A	c.722G>A	p.R241H	Missense	1/2	-
9-84607544-C-T	SPATA31D1	c.2159C>T	p.S720L	Missense	4/4	-
13-80055378-C-G	NDFIP2	c.40C>G	p.P14A	Missense	1/8	-
10-76780967-C-G	KAT6B	c.2945C>G	p.P982R	Missense	15/18	-
11-113270634-G-A	ANKK1	c.1943G>A	p.C648Y	Missense	8/8	-
14-30046461-G-A	PRKD1	c.2722C>T	p.R908C	Missense	18/18	-
10-102683914-G-A	SLF2	c.1156G>A	p.V386M	Missense	5/20	-
11-128781632-G-A	KCNJ5	c.464G>A	p.R155Q	Missense	2/3	-
9-126777635-GGCAGCGGCGGCCGCT-G	LHX2	c.564_578del15	p.A192_A196del	InFrameDeletion	3/5	-
16-23093764-G-A	USP31	c.1945C>T	p.R649W	Missense	12/16	-
11-128709618-G-T	KCNJ1	c.521C>A	p.T174K	Missense	3/3	-
16-31098949-G-A	PRSS53	c.151C>T	p.Q51*	Nonsense	3/11	-
3-32859663-G-A	TRIM71	c.91G>A	p.A31T	Missense	1/4	-
4-6864526-A-T	KIAA0232	c.2417A>T	p.E806V	Missense	7/10	-
11-116658694-C-T	ZPR1	c.13G>A	p.G5R	Missense	1/14	-
11-116658694-C-G	ZPR1	c.13G>C	p.G5R	Missense	1/14	-
11-64009861-T-C	FKBP2	c.2T>C	p.M1?	Missense	2/6	-
11-62933641-G-A	SLC22A25	c.1160C>T	p.A387V	Missense	7/9	-
20-37182672-C-T	RALGAPB	c.3325C>T	p.R1109C	Missense	22/30	-
9-139908784-T-C	ABCA2	c.4076A>G	p.N1359S	Missense	27/49	-
21-19642314-G-A	TMPRSS15	c.3032C>T	p.T1011I	Missense	25/25	-
8-77764879-G-A	ZFHX4	c.5722G>A	p.A1908T	Missense	10/11	-
X-118767363-A-C	SEPTIN6	c.1049T>G	p.V350G	Missense	8/11	-
1-20827211-G-A	MUL1	c.1031C>T	p.T344I	Missense	4/4	-
1-36554524-G-A	ADPRS	c.19G>A	p.A7T	Missense	1/6	-
7-82584894-T-C	PCLO	c.5375A>G	p.Q1792R	Missense	5/25	-
5-179745871-G-A	GFPT2	c.880C>T	p.R294W	Missense	10/19	-
5-178548719-C-T	ADAMTS2	c.3121G>A	p.V1041I	Missense	21/22	-
5-82779384-T-C	VCAN	c.47T>C	p.I16T	Missense	2/15	-
2-99980139-T-G	EIF5B	c.951T>G	p.D317E	Missense	5/24	-
2-99980139-T-A	EIF5B	c.951T>A	p.D317E	Missense	5/24	-
2-99980158-G-A	EIF5B	c.970G>A	p.E324K	Missense	5/24	-
5-13810233-G-A	DNAH5	c.7544C>T	p.T2515M	Missense	45/79	-
2-131519831-C-A	AMER3	c.186C>A	p.Y62*	Nonsense	2/2	-
2-131519831-C-G	AMER3	c.186C>G	p.Y62*	Nonsense	2/2	-
1-1362964-G-A	TMEM88B	c.289G>A	p.A97T	Missense	2/2	-
1-12943019-A-T	PRAMEF4	c.197T>A	p.L66H	Missense	2/4	-
2-233350792-C-T	ECEL1	c.572G>A	p.R191H	Missense	2/18	-
3-52492855-T-C	NISCH	c.355T>C	p.F119L	Missense	3/21	-
3-52492857-C-A	NISCH	c.357C>A	p.F119L	Missense	3/21	-
3-52492857-C-G	NISCH	c.357C>G	p.F119L	Missense	3/21	-
4-40439877-T-C	RBM47	c.1034A>G	p.Y345C	Missense	4/7	-
19-55325304-A-G	KIR2DL4	c.767A>G	p.D256G	Missense	7/7	-
4-174213335-A-C	GALNT7	c.664A>C	p.T222P	Missense	3/12	-
5-31541487-C-A	C5orf22	c.970C>A	p.Q324K	Missense	6/9	-
19-16677363-A-C	SLC35E1	c.736T>G	p.F246V	Missense	4/6	-
5-56177398-T-G	MAP3K1	c.2371T>G	p.Y791D	Missense	14/20	-
8-144621311-G-C	ZC3H3	c.226C>G	p.L76V	Missense	2/12	-
9-123370204-T-C	MEGF9	c.1172A>G	p.Y391C	Missense	5/6	-
11-65413777-T-C	SIPA1	c.1349T>C	p.I450T	Missense	7/16	-
19-55421393-C-A	NCR1	c.650C>A	p.T217N	Missense	5/7	-
12-49440148-T-C	KMT2D	c.4478A>G	p.N1493S	Missense	17/55	-
19-47884091-C-T	DHX34	c.3001C>T	p.R1001W	Missense	15/17	-
12-95922698-A-T	USP44	c.1509T>A	p.Y503*	Nonsense	3/6	-
12-95922698-A-C	USP44	c.1509T>G	p.Y503*	Nonsense	3/6	-
14-76149932-G-C	TTLL5	c.304G>C	p.G102R	Missense	5/32	-
14-94935650-G-C	SERPINA9	c.582C>G	p.N176K	Missense	2/5	-
14-94935650-G-T	SERPINA9	c.528C>A	p.N176K	Missense	2/5	-
1-908653-G-A	PLEKHN1	c.1240G>A	p.A414T	Missense	12/16	-
19-47152076-G-A	DACT3	c.1553C>T	p.A518V	Missense	4/4	-
15-33938636-G-T	RYR3	c.3850G>T	p.D1284Y	Missense	29/104	-
19-49120032-A-C	RPL18	c.248T>G	p.V83G	Missense	4/7	-
14-23512146-C-T	PSMB11	c.712C>T	p.R238C	Missense	1/1	-
7-99219030-C-A	ZSCAN25	c.422C>A	p.T141K	Missense	5/8	-
X-105167240-C-A	NRK	c.2741C>A	p.P914H	Missense	18/29	-
5-11385173-C-T	CTNND2	c.781G>A	p.A261T	Missense	7/22	-
22-31011318-C-T	TCN2	c.611C>T	p.T204I	Missense	5/9	-
X-153695109-G-A	PLXNA3	c.3080G>A	p.R1027H	Missense	17/33	-
5-11397247-C-T	CTNND2	c.508G>A	p.A170T	Missense	6/22	-
1-42049330-A-C	HIVEP3	c.1139T>G	p.F380C	Missense	4/9	-
1-152082838-C-G	TCHH	c.2855G>C	p.R952T	Missense	3/3	-
2-196720580-G-C	DNAH7	c.8550C>G	p.D2850E	Missense	45/65	-
2-196720580-G-T	DNAH7	c.8550C>A	p.D2850E	Missense	45/65	-
22-20103271-G-A	TRMT2A	c.632C>T	p.P211L	Missense	3/12	-
15-26812766-C-G	GABRB3	c.797G>C	p.W266S	Missense	7/9	-
3-183995219-G-C	ECE2	c.443G>C	p.W148S	Missense	4/19	-
17-80788413-C-T	ZNF750	c.1777G>A	p.G593R	Missense	3/3	-
17-80788413-C-G	ZNF750	c.1777G>C	p.G593R	Missense	3/3	-
18-77918400-G-A	PARD6G	c.385C>T	p.R129C	Missense	3/3	-
X-20071043-T-G	MAP7D2	c.548A>C	p.K183T	Missense	5/17	-
7-6554141-C-T	GRID2IP	c.1288G>A	p.V430I	Missense	8/22	-
16-46865018-G-A	C16orf87	c.44C>T	p.S15L	Missense	1/4	-
7-5997573-C-T	RSPH10B	c.745G>A	p.E249K	Missense	8/21	-
7-91631591-T-C	AKAP9	c.2360T>C	p.L787P	Missense	8/50	-
7-99756093-G-T	TRAPPC14	c.30C>A	p.Y10*	Nonsense	1/11	-
7-99756093-G-C	TRAPPC14	c.30C>G	p.Y10*	Nonsense	1/11	-
3-171379892-G-GT	PLD1	c.2297_2297dupA	p.Y766*	Nonsense	20/27	-
17-39197393-GTAGCAGCTTGGCTGGCAGCAGCTAGTTTCACAGCAGCTTGGCTGGCAGCAGCTAGAGTC-G	KRTAP1-1	c.161_268del108	p.D67Pfs*88	InFrameDeletion	1/1	-
8-38913121-G-A	ADAM9	c.1421G>A	p.R474Q	Missense	14/22	-
19-33167810-C-G	RGS9BP	c.641C>G	p.A214G	Missense	1/1	-
7-76797076-A-G	CCDC146	c.91A>G	p.I31V	Missense	2/19	-
19-34263495-T-C	CHST8	c.802T>C	p.F268L	Missense	5/5	-
19-34263497-C-A	CHST8	c.804C>A	p.F268L	Missense	5/5	-
19-34263497-C-G	CHST8	c.804C>G	p.F268L	Missense	5/5	-
19-52327747-C-T	FPR3	c.746C>T	p.S249F	Missense	2/2	-
6-110081570-G-A	FIG4	c.1255G>A	p.A419T	Missense	11/23	-
20-3785272-A-G	CDC25B	c.1547A>G	p.Y516C	Missense	15/16	-
2-157186347-C-T	NR4A2	c.352G>A	p.G118R	Missense	3/8	-
2-157186347-C-G	NR4A2	c.352G>C	p.G118R	Missense	3/8	-
20-43942218-C-T	RBPJL	c.730C>T	p.Q244*	Nonsense	7/12	-
10-48389773-C-T	RBP3	c.1105G>A	p.V369I	Missense	1/4	-
X-153248052-G-A	TMEM187	c.539G>A	p.R180H	Missense	2/2	-
1-155162054-C-T	MUC1	c.79G>A	p.A27T	Missense	2/8	-
3-197428624-C-T	RUBCN	c.682G>A	p.G228R	Missense	6/20	-
3-197428624-C-G	RUBCN	c.682G>C	p.G228R	Missense	6/20	-
1-248059381-C-G	OR2W3	c.493C>G	p.R165G	Missense	1/1	-
7-130021570-G-A	CPA1	c.247G>A	p.G83S	Missense	3/10	-
2-86071600-C-A	ST3GAL5	c.927G>T	p.L309F	Missense	6/7	-
2-86071600-C-G	ST3GAL5	c.927G>C	p.L309F	Missense	6/7	-
5-140346635-C-T	PCDHAC2	c.284C>T	p.T95M	Missense	1/4	-
2-136562433-G-C	LCT	c.4368C>G	p.I1456M	Missense	10/17	-
10-97106177-T-G	SORBS1	c.2415A>C	p.K805N	Missense	26/33	-
10-97106177-T-A	SORBS1	c.2415A>T	p.K805N	Missense	26/33	-
15-90611583-G-A	ZNF710	c.1214G>A	p.R405H	Missense	2/5	-
X-85213910-T-G	CHM	c.775A>C	p.N259H	Missense	6/15	-
2-228846510-C-T	SPHKAP	c.5026G>A	p.V1676I	Missense	12/12	-
19-51274012-C-T	GPR32	c.155C>T	p.A52V	Missense	1/1	-
10-17083118-G-A	CUBN	c.3931C>T	p.R1311W	Missense	27/67	-
3-113505170-A-G	ATP6V1A	c.656A>G	p.E219G	Missense	6/15	-
19-41349754-C-G	CYP2A6	c.1432G>C	p.V478L	Missense	9/9	-
19-41349754-C-A	CYP2A6	c.1432G>T	p.V478L	Missense	9/9	-
5-95733045-C-T	PCSK1	c.1717G>A	p.D573N	Missense	12/14	-
17-4788292-A-T	MINK1	c.503A>T	p.K168M	Missense	6/32	-
16-46726370-G-A	ORC6	c.272G>A	p.G91D	Missense	3/7	-
10-97131798-T-G	SORBS1	c.1746A>C	p.K582N	Missense	20/33	-
10-97131798-T-A	SORBS1	c.1746A>T	p.K582N	Missense	20/33	-
2-166847884-G-C	SCN1A	c.5901C>G	p.N1967K	Missense	29/29	-
2-166847884-G-T	SCN1A	c.5901C>A	p.N1967K	Missense	29/29	-
19-31025783-G-A	ZNF536	c.2200G>A	p.G734S	Missense	3/5	-
3-109050615-T-C	DPPA4	c.356A>G	p.K119R	Missense	4/7	-
18-51686227-C-T	MBD2	c.1156G>A	p.A386T	Missense	6/7	-
7-100676069-C-T	MUC17	c.1372C>T	p.P458S	Missense	3/13	-
17-55918403-T-A	MRPS23	c.304A>T	p.K102*	Nonsense	4/5	-
9-139257953-C-A	DNLZ	c.214G>T	p.V72F	Missense	1/3	-
19-12864082-T-C	BEST2	c.161T>C	p.L54P	Missense	3/10	-
15-72952364-G-GA	GOLGA6B	c.456_456dupA	p.E153Rfs*82	SpliceDonorInsertion	6/18	-
1-157773639-CACATTT-C	FCRL1	c.309_314delAAATGT	p.I103_V105delinsM	MultiAAMissense	3/11	-
7-20825200-CCTGGAGGCCCCGGACACGCCGAAGCTT-C	SP8	c.210_236del27	p.S71_R79del	InFrameDeletion	2/2	-
9-21970901-CCTGAG-C	CDKN2A	c.453_457delCTCAG	p.S152Hfs*11	SpliceDonorDeletion	2/3	-
11-88242455-CAGCCCGCACCGCCCGTGGCCCCCACGCCCCCAGCGCTCCCGCCTGCGCCAGCGCCAGCG-C	GRM5	c.2889_2948del60	p.A963Rfs*20	InFrameDeletion	10/10	-
11-88242545-AGGGCTTGATGACGGCCGTTTGGTTGGGGTTTTCTTTCTTGTTGATGTGGATGGACAGGC-A	GRM5	c.2793_2852del60	p.R932Lfs*51	MultiAAMissense	10/10	-
10-21134216-CATGTAAAAATTCTGGAGTCTTGTCTAA-C	NEBL	c.1171_1197del27	p.L391_H399del	InFrameDeletion	12/28	-
5-140482187-C-T	PCDHB3	c.1954C>T	p.R652C	Missense	1/1	-
7-20824447-G-A	SP8	c.989C>T	p.S330L	Missense	2/2	-
7-20824501-G-A	SP8	c.935C>T	p.S312L	Missense	2/2	-
8-141554351-G-T	AGO2	c.1800C>A	p.H600Q	Missense	14/19	-
8-141554351-G-C	AGO2	c.1800C>G	p.H600Q	Missense	14/19	-
12-52380612-C-T	ACVR1B	c.1147C>T	p.P383S	Missense	7/9	-
12-57437757-C-T	MYO1A	c.775G>A	p.E259K	Missense	10/28	-
13-113200075-G-A	TUBGCP3	c.1273C>T	p.P425S	Missense	11/22	-
17-1264501-C-T	YWHAE	c.463G>A	p.A155T	Missense	4/6	-
17-1546910-C-G	SCARF1	c.617G>C	p.G206A	Missense	4/11	-
17-7340272-C-T	TMEM102	c.974C>T	p.A325V	Missense	3/3	-
11-6008093-C-T	OR52L1	c.68G>A	p.W23*	Nonsense	1/1	-
11-28090924-C-T	KIF18A	c.1472G>A	p.R491H	Missense	11/17	-
11-76506789-T-G	TSKU	c.129T>G	p.D43E	Missense	2/2	-
11-76506789-T-A	TSKU	c.129T>A	p.D43E	Missense	2/2	-
3-167164264-G-A	SERPINI2	c.1057C>T	p.H353Y	Missense	8/9	-
12-32945610-C-G	PKP2	c.2413G>C	p.A805P	Missense	12/13	-
22-50581576-C-T	MOV10L1	c.2284C>T	p.R762C	Missense	17/27	-
15-72958457-G-A	GOLGA6B	c.1942G>A	p.G648S	Missense	17/18	-
5-127595313-G-A	FBN2	c.8573C>T	p.T2858M	Missense	65/65	-
15-73617515-G-A	HCN4	c.1759C>T	p.R587W	Missense	6/8	-
16-84767062-C-A	USP10	c.43C>A	p.P15T	Missense	2/14	-
1-45295648-A-C	PTCH2	c.868T>G	p.F290V	Missense	7/22	-
1-248004843-G-A	OR11L1	c.356C>T	p.A119V	Missense	1/1	-
2-31570491-G-A	XDH	c.3173C>T	p.P1058L	Missense	29/36	-
17-8926202-G-A	NTN1	c.512G>A	p.W171*	Nonsense	2/7	-
17-8926203-G-A	NTN1	c.513G>A	p.W171*	Nonsense	2/7	-
2-55184944-C-T	EML6	c.4504C>T	p.R1502*	Nonsense	32/41	-
17-14139315-C-T	CDRT15	c.425G>A	p.S142N	Missense	3/3	-
5-5222915-C-T	ADAMTS16	c.1619C>T	p.A540V	Missense	11/23	-
6-39841078-C-T	DAAM2	c.1109C>T	p.T370M	Missense	10/25	-
20-17434414-G-C	PCSK2	c.913G>C	p.V305L	Missense	9/12	-
20-17434414-G-T	PCSK2	c.913G>T	p.V305L	Missense	9/12	-
19-58386123-G-A	ZNF814	c.635C>T	p.A212V	Missense	3/3	-
7-57528713-G-C	ZNF716	c.546G>C	p.K182N	Missense	4/4	-
7-57528713-G-T	ZNF716	c.546G>T	p.K182N	Missense	4/4	-
12-76739894-GATTGATGGC-G	BBS10	c.1862_1870delGCCATCAAT	p.C621_Q623del	InFrameDeletion	2/2	-
14-103371834-TTTTTTG-T	TRAF3	c.1422_1427delTTTTGT	p.F475_V476del	InFrameDeletion	12/12	-
14-103372084-AAGTCAT-A	TRAF3	c.1674_1679delCATAGT	p.I559_V560del	InFrameDeletion	12/12	-
14-103372010-CTGGCTG-C	TRAF3	c.1596_1601delTGGCTG	p.G533_C534del	InFrameDeletion	12/12	-
17-78358932-TACAGCTCCATCAGAGGCTTCCTCAGCAAGC-T	RNF213	c.14424_14453del30	p.I4809_S4818del	InFrameDeletion	60/68	-
4-52860763-GGTGACCTGGGCCAGGGTGACAGGCCCTCAGATCTATCAGTGTCAGAGGCATTTTCCAGA-G	LRRC66	c.2349_2426del78	p.L790Rfs*3	InFrameDeletion	5/5	-
10-99437777-CAGGATT-C	AVPI1	c.288_293delAATCCT	p.I97_L98del	SpliceAcceptorDeletion	3/3	-
10-135103370-G-A	TUBGCP2	c.1318C>T	p.P440S	Missense	9/18	-
11-65340376-G-T	FAM89B	c.236G>T	p.G79V	Missense	1/2	-
11-73021352-C-T	ARHGEF17	c.1669C>T	p.R557C	Missense	1/21	-
1-15541630-C-G	TMEM51	c.47C>G	p.A16G	Missense	3/4	-
11-102220700-A-C	BIRC2	c.115A>C	p.M39L	Missense	2/9	-
11-102220700-A-T	BIRC2	c.115A>T	p.M39L	Missense	2/9	-
11-107207431-T-G	CWF19L2	c.2211A>C	p.R737S	Missense	15/18	-
11-107207431-T-A	CWF19L2	c.2211A>T	p.R737S	Missense	15/18	-
1-26672631-C-T	CRYBG2	c.518G>A	p.R173Q	Missense	2/20	-
11-108151850-T-A	ATM	c.3531T>A	p.C1177*	Nonsense	24/63	-
1-44878182-C-T	RNF220	c.413C>T	p.P138L	Missense	2/15	-
11-122930457-T-C	HSPA8	c.844A>G	p.I282V	Missense	5/9	-
1-173878875-C-G	SERPINC1	c.968G>C	p.S323T	Missense	5/7	-
12-3039416-A-G	TULP3	c.397A>G	p.I133V	Missense	5/11	-
11-46898123-C-T	LRP4	c.3430G>A	p.G1144R	Missense	25/38	-
11-46898123-C-G	LRP4	c.3430G>C	p.G1144R	Missense	25/38	-
11-62292004-C-G	AHNAK	c.9885G>C	p.M3295I	Missense	5/5	-
11-62292004-C-T	AHNAK	c.9885G>A	p.M3295I	Missense	5/5	-
11-62292004-C-A	AHNAK	c.9885G>T	p.M3295I	Missense	5/5	-
1-186308853-G-A	TPR	c.4072C>T	p.L1358F	Missense	30/51	-
9-5300174-C-T	RLN2	c.482G>A	p.R161K	Missense	2/2	-
1-197169336-A-T	ZBTB41	c.268T>A	p.L90I	Missense	2/11	-
2-69092774-C-G	BMP10	c.1264G>C	p.G422R	Missense	2/2	-
15-83931917-A-T	BNC1	c.2086T>A	p.C696S	Missense	4/5	-
15-83931916-C-G	BNC1	c.2087G>C	p.C696S	Missense	4/5	-
2-179466778-G-T	TTN	c.55220C>A	p.T18407K	Missense	284/363	-
16-30429632-C-T	ZNF771	c.898C>T	p.P300S	Missense	3/3	-
16-8739965-G-T	METTL22	c.1180G>T	p.E394*	Nonsense	11/11	-
2-207412179-C-G	ADAM23	c.747C>G	p.I249M	Missense	7/26	-
2-219558519-C-G	STK36	c.2222C>G	p.S741C	Missense	18/27	-
19-22363632-A-G	ZNF676	c.887T>C	p.L296P	Missense	3/3	-
2-235950225-C-T	SH3BP4	c.812C>T	p.S271L	Missense	4/6	-
11-32953474-C-T	QSER1	c.283C>T	p.H224Y	Missense	4/13	-
3-12942891-C-G	IQSEC1	c.2937G>C	p.K979N	Missense	14/15	-
3-12942891-C-A	IQSEC1	c.2937G>T	p.K979N	Missense	14/15	-
3-38592944-G-A	SCN5A	c.4916C>T	p.A1639V	Missense	28/28	-
11-84865607-G-A	DLG2	c.275C>T	p.T92M	Missense	5/28	-
3-97868372-T-C	OR5H14	c.143T>C	p.V48A	Missense	2/2	-
3-142259800-G-A	ATR	c.3527C>T	p.T1176I	Missense	18/47	-
11-89537342-G-C	TRIM49	c.296C>G	p.T99R	Missense	3/8	-
3-195512294-T-C	MUC4	c.6157A>G	p.S2053G	Missense	2/25	-
5-19839074-A-T	CDH18	c.22T>A	p.C8S	Missense	3/13	-
5-19839073-C-G	CDH18	c.23G>C	p.C8S	Missense	3/13	-
5-33649777-C-A	ADAMTS12	c.1216G>T	p.E406*	Nonsense	8/24	-
3-195516884-T-C	MUC4	c.1567A>G	p.T523A	Missense	2/25	-
19-9921816-G-A	FBXL12	c.737C>T	p.A246V	Missense	3/3	-
5-101631908-A-G	SLCO4C1	c.59T>C	p.L20P	Missense	1/13	-
19-9921657-G-A	FBXL12	c.896C>T	p.A299V	Missense	3/3	-
5-134670718-C-A	MACROH2A1	c.1067G>T	p.S356I	Missense	9/9	-
5-140182143-C-T	PCDHA3	c.1361C>T	p.A454V	Missense	1/4	-
5-140186895-C-A	PCDHA4	c.123C>A	p.H41Q	Missense	1/4	-
5-140186895-C-G	PCDHA4	c.123C>G	p.H41Q	Missense	1/4	-
6-96034770-C-G	MANEA	c.455C>G	p.S152C	Missense	2/5	-
19-39798593-C-T	LRFN1	c.1996G>A	p.A666T	Missense	5/5	-
6-155153936-G-A	SCAF8	c.3223G>A	p.G1075S	Missense	20/20	-
7-42018230-T-C	GLI3	c.1615A>G	p.R539G	Missense	11/15	-
7-45005812-C-T	MYO1G	c.2017G>A	p.A673T	Missense	16/22	-
7-70255374-G-A	AUTS2	c.3172G>A	p.G1058R	Missense	19/19	-
7-70255374-G-C	AUTS2	c.3172G>C	p.G1058R	Missense	19/19	-
8-144995186-C-T	PLEC	c.8803G>A	p.A2935T	Missense	32/32	-
19-56012533-G-A	SSC5D	c.2750G>A	p.S917N	Missense	12/14	-
9-977419-C-T	DMRT3	c.418C>T	p.Q140*	Nonsense	1/2	-
9-93606437-C-G	SYK	c.257C>G	p.A86G	Missense	2/14	-
10-134698624-CGTT-C	CFAP46	c.3607_3609delAAC	p.N1203del	InFrameDeletion	27/58	-
4-88536408-G-GTGACAGTAGTAATAGTAT	DSPP	c.2600_2601insTAGTAATAGTATTGACAG	p.S868_D869insNSIDSS	InFrameInsertion	5/5	-
5-172110563-A-C	NEURL1B	c.719A>C	p.H240P	Missense	3/5	-
1-113264917-C-A	TAFA3	c.62C>A	p.A21D	Missense	3/6	-
2-45169246-G-C	SIX3	c.3G>C	p.M1?	Missense	1/2	-
2-45169246-G-T	SIX3	c.3G>T	p.M1?	Missense	1/2	-
2-55470704-T-C	MTIF2	c.1412A>G	p.K471R	Missense	12/16	-
5-147928340-C-T	HTR4	c.244G>A	p.V82I	Missense	4/7	-
2-75185840-C-T	POLE4	c.34C>T	p.P12S	Missense	1/4	-
2-84886217-G-A	DNAH6	c.6008G>A	p.G2003E	Missense	37/77	-
6-65622538-G-T	EYS	c.2480C>A	p.S827Y	Missense	16/43	-
4-24558008-G-A	DHX15	c.727C>T	p.R243C	Missense	4/14	-
6-116914212-A-T	RWDD1	c.680A>T	p.E227V	Missense	7/7	-
5-7698468-G-C	ADCY2	c.1090G>C	p.D364H	Missense	7/25	-
12-54107628-G-T	CALCOCO1	c.1648C>A	p.P550T	Missense	13/15	-
20-860399-A-C	ANGPT4	c.1044T>G	p.D348E	Missense	6/9	-
20-860399-A-T	ANGPT4	c.1044T>A	p.D348E	Missense	6/9	-
4-73012766-T-C	NPFFR2	c.806T>C	p.I167T	Missense	4/4	-
13-20237217-G-C	MPHOSPH8	c.1970G>C	p.G657A	Missense	9/14	-
7-150068613-CG-AC	REPIN1	c.454_455delCGinsAC	p.R152T	Missense	3/3	-
7-150068785-G-C	REPIN1	c.626G>C	p.R209T	Missense	3/3	-
1-17594380-C-T	PADI3	c.575C>T	p.A192V	Missense	6/16	-
8-4494966-C-T	CSMD1	c.200G>A	p.R67H	Missense	2/70	-
3-115805367-C-A	LSAMP	c.192G>T	p.W64C	Missense	2/7	-
18-48593429-G-T	SMAD4	c.1180G>T	p.E394*	Nonsense	10/12	-
4-15444285-A-C	C1QTNF7	c.732A>C	p.E244D	Missense	3/3	-
4-15444285-A-T	C1QTNF7	c.732A>T	p.E244D	Missense	3/3	-
3-182584071-C-G	ATP11B	c.1459C>G	p.L487V	Missense	14/30	-
3-64607874-C-T	ADAMTS9	c.2686G>A	p.G896R	Missense	18/40	-
3-64607874-C-G	ADAMTS9	c.2686G>C	p.G896R	Missense	18/40	-
11-74546595-C-A	RNF169	c.947C>A	p.T316K	Missense	6/6	-
9-35045355-G-T	C9orf131	c.2729G>T	p.G910V	Missense	2/2	-
3-195515296-C-T	MUC4	c.3155G>A	p.G1052D	Missense	2/25	-
4-36130343-T-C	ARAP2	c.3452A>G	p.Q1151R	Missense	21/33	-
3-148763958-G-A	HLTF	c.1981C>T	p.R661C	Missense	18/25	-
6-26158525-A-C	H2BC5	c.128A>C	p.Y43S	Missense	1/1	-
3-148757462-C-T	HLTF	c.2521G>A	p.A841T	Missense	22/25	-
1-110925498-C-T	SLC16A4	c.178G>A	p.G60S	Missense	3/9	-
3-115805367-C-G	LSAMP	c.192G>C	p.W64C	Missense	2/7	-
11-35640206-G-C	FJX1	c.22G>C	p.A8P	Missense	1/1	-
6-13977827-C-G	RNF182	c.477C>G	p.D159E	Missense	3/3	-
6-13977827-C-A	RNF182	c.477C>A	p.D159E	Missense	3/3	-
19-49699718-G-C	TRPM4	c.2232G>C	p.K744N	Missense	17/25	-
19-49699718-G-T	TRPM4	c.2232G>T	p.K744N	Missense	17/25	-
20-62658365-G-C	PRPF6	c.2059G>C	p.V687L	Missense	16/21	-
20-62658365-G-T	PRPF6	c.2059G>T	p.V687L	Missense	16/21	-
21-40800309-A-C	LCA5L	c.111T>G	p.D37E	Missense	5/11	-
21-40800309-A-T	LCA5L	c.111T>A	p.D37E	Missense	5/11	-
22-44681468-G-A	SHISAL1	c.439C>T	p.R147W	Missense	4/5	-
6-65612367-C-G	EYS	c.2668G>C	p.D890H	Missense	17/43	-
2-5833302-C-T	SOX11	c.449C>T	p.A150V	Missense	1/1	-
2-103310930-C-A	SLC9A2	c.1483C>A	p.Q495K	Missense	6/12	-
2-114257636-G-A	FOXD4L1	c.803G>A	p.R268H	Missense	1/1	-
2-219128255-A-T	GPBAR1	c.808A>T	p.S270C	Missense	2/2	-
9-6250506-ATGTACT-A	IL33	c.126_131delGTACTT	p.M42_F44delinsI	MultiAAMissense	3/8	-
17-7579545-TCCGGGGACAGCA-T	TP53	c.131_142del12	p.M44_D48delinsN	MultiAAMissense	4/11	-
17-7579850-GTCTGAAAATGTT-G	TP53	c.51_62del12	p.E17_S20del	InFrameDeletion	2/11	-
17-7578509-CAGGTCTTGGCCA-C	TP53	c.410_421del12	p.L137_C141delinsR	MultiAAMissense	5/11	-
17-7578392-TCATGGTGGGGGC-T	TP53	c.527_538del12	p.C176_E180delins*	MultiAAMissense	5/11	-
20-3296424-TATCTTCCAC-T	DNAAF9	c.1540_1548delGTGGAAGAT	p.V514_D516del	SpliceAcceptorDeletion	19/37	-
1-32118263-G-A	COL16A1	c.4804C>T	p.P1602S	Missense	71/71	-
1-152285870-C-T	FLG	c.1492G>A	p.E498K	Missense	3/3	-
2-99860587-G-A	LYG2	c.395C>T	p.T132M	Missense	5/6	-
2-135745084-T-G	MAP3K19	c.1358A>C	p.D453A	Missense	10/13	-
5-140764664-C-T	PCDHGA7	c.2198C>T	p.A733V	Missense	1/4	-
2-219300149-C-G	VIL1	c.1818C>G	p.N606K	Missense	15/20	-
2-219300149-C-A	VIL1	c.1818C>A	p.N606K	Missense	15/20	-
3-184801303-G-C	C3orf70	c.245C>G	p.T82S	Missense	2/2	-
3-184801304-T-A	C3orf70	c.244A>T	p.T82S	Missense	2/2	-
5-13923474-C-G	DNAH5	c.353G>C	p.G118A	Missense	4/79	-
4-54439935-G-A	LNX1	c.235C>T	p.R79C	Missense	2/11	-
5-99871469-T-G	FAM174A	c.235T>G	p.S79A	Missense	1/3	-
20-61453508-G-C	COL9A3	c.469G>C	p.G157R	Missense	9/32	-
5-140214668-G-A	PCDHA7	c.700G>A	p.D234N	Missense	1/4	-
7-43519226-C-A	HECW1	c.3117C>A	p.H1039Q	Missense	17/30	-
7-43519226-C-G	HECW1	c.3117C>G	p.H1039Q	Missense	17/30	-
8-12950232-T-A	DLC1	c.3629A>T	p.D1210V	Missense	13/18	-
6-30164454-G-A	TRIM26	c.604C>T	p.R202W	Missense	6/10	-
9-117666330-C-T	TNFSF8	c.586G>A	p.D196N	Missense	4/4	-
6-108042008-C-T	SCML4	c.872G>A	p.R291H	Missense	6/8	-
8-113662475-A-T	CSMD3	c.3108T>A	p.C1036*	Nonsense	19/71	-
6-151130571-G-A	PLEKHG1	c.1150G>A	p.V384I	Missense	10/17	-
19-49148685-A-C	CA11	c.117T>G	p.D39E	Missense	2/9	-
19-49148685-A-T	CA11	c.117T>A	p.D39E	Missense	2/9	-
16-19126081-C-G	ITPRIPL2	c.298C>G	p.L100V	Missense	1/1	-
7-48232647-T-C	ABCA13	c.161T>C	p.I54T	Missense	2/62	-
7-148979297-A-G	ZNF783	c.1504A>G	p.T502A	Missense	6/6	-
7-63809478-A-G	ZNF736	c.1237A>G	p.I413V	Missense	4/4	-
16-698158-C-T	MCRIP2	c.451C>T	p.Q151*	Nonsense	5/5	-
10-105138168-A-G	TAF5	c.974A>G	p.Q325R	Missense	3/11	-
12-11285943-C-T	TAS2R30	c.901G>A	p.V301M	Missense	1/1	-
12-25272172-C-G	DNAI7	c.1303G>C	p.E435Q	Missense	12/16	-
12-25274818-C-G	DNAI7	c.1108G>C	p.E370Q	Missense	11/16	-
2-120199169-C-G	SCTR	c.1147G>C	p.V383L	Missense	12/13	-
2-120199169-C-A	SCTR	c.1147G>T	p.V383L	Missense	12/13	-
12-51512445-G-A	TFCP2	c.233C>T	p.A78V	Missense	2/15	-
X-153036330-C-T	PLXNB3	c.2128C>T	p.H710Y	Missense	11/36	-
12-53416306-A-G	EIF4B	c.562A>G	p.R188G	Missense	6/15	-
12-132508472-C-T	EP400	c.4841C>T	p.P1614L	Missense	24/53	-
14-105859622-G-C	PACS2	c.2546G>C	p.G849A	Missense	24/25	-
15-35045209-G-T	GJD2	c.436C>A	p.Q146K	Missense	2/2	-
17-27946715-T-C	CORO6	c.275A>G	p.H92R	Missense	2/10	-
17-39672372-G-A	KRT15	c.884C>T	p.A295V	Missense	4/8	-
5-153056707-AGA-CAT	GRIA1	c.1015_1017delAGAinsCAT	p.R339H	Missense	7/16	-
19-6426515-T-A	SLC25A41	c.998A>T	p.Q333L	Missense	7/7	-
19-14584766-A-G	PTGER1	c.367T>C	p.C123R	Missense	2/3	-
X-9733740-G-A	GPR143	c.118C>T	p.R40C	Missense	1/9	-
2-61510368-G-A	USP34	c.4910C>T	p.A1637V	Missense	37/80	-
22-18567947-ACTT-A	PEX26	c.741_743delCTT	p.F248del	InFrameDeletion	4/5	-
19-45656647-CCGCCAGCAG-C	NKPD1	c.1039_1047delCTGCTGGCG	p.L347_A349del	InFrameDeletion	4/4	-
19-23159116-T-G	ZNF728	c.1023A>C	p.K341N	Missense	4/4	-
19-23159116-T-A	ZNF728	c.1023A>T	p.K341N	Missense	4/4	-
1-26671611-T-C	CRYBG2	c.1538A>G	p.E513G	Missense	2/20	-
1-201186451-C-T	IGFN1	c.9632C>T	p.S3211L	Missense	17/24	-
2-108910226-T-C	SULT1C2	c.103T>C	p.F35L	Missense	2/8	-
2-108910228-C-A	SULT1C2	c.105C>A	p.F35L	Missense	2/8	-
2-108910228-C-G	SULT1C2	c.105C>G	p.F35L	Missense	2/8	-
20-33588361-C-T	MYH7B	c.5173C>T	p.R1725C	Missense	39/45	-
19-36048625-T-C	ATP4A	c.1625A>G	p.D542G	Missense	11/22	-
19-45922388-C-T	ERCC1	c.493G>A	p.A165T	Missense	5/10	-
19-3980546-T-A	EEF2	c.1312A>T	p.K438*	Nonsense	9/15	-
3-156395897-C-G	TIPARP	c.411C>G	p.I137M	Missense	2/6	-
X-70348559-C-G	MED12	c.3466C>G	p.L1156V	Missense	24/45	-
2-23929379-G-T	KLHL29	c.2473G>T	p.A825S	Missense	14/14	-
20-51871975-G-A	TSHZ2	c.1978G>A	p.E660K	Missense	2/3	-
19-58868121-C-T	ZNF497	c.881G>A	p.R294H	Missense	3/3	-
3-167758650-T-G	GOLIM4	c.608A>C	p.H203P	Missense	7/16	-
17-10303877-C-T	MYH8	c.3565G>A	p.E1189K	Missense	27/40	-
4-25125840-G-A	SEPSECS	c.1219C>T	p.P407S	Missense	11/11	-
5-14498629-G-T	TRIO	c.8212G>T	p.D2738Y	Missense	53/57	-
17-43319240-C-T	FMNL1	c.1612C>T	p.P538S	Missense	15/27	-
6-46979780-A-G	ADGRF1	c.1079T>C	p.L360P	Missense	10/15	-
6-41303975-C-A	NCR2	c.203C>A	p.T68N	Missense	2/5	-
6-72892268-C-T	RIMS1	c.1094C>T	p.P365L	Missense	6/34	-
19-30433495-C-T	URI1	c.41C>T	p.P14L	Missense	1/11	-
6-32943191-G-T	BRD2	c.364G>T	p.D122Y	Missense	4/13	-
19-35448915-A-G	ZNF792	c.1844T>C	p.V615A	Missense	4/4	-
7-120382633-C-T	KCND2	c.1444C>T	p.L482F	Missense	4/6	-
19-45127245-G-C	IGSF23	c.367G>C	p.E123Q	Missense	2/5	-
19-50832261-G-A	KCNC3	c.79C>T	p.P27S	Missense	1/5	-
19-58907559-G-A	RNF225	c.103G>A	p.G35R	Missense	1/1	-
19-58907559-G-C	RNF225	c.103G>C	p.G35R	Missense	1/1	-
20-44682316-C-T	SLC12A5	c.2647C>T	p.R883C	Missense	20/26	-
9-137690284-C-T	COL5A1	c.2929C>T	p.H977Y	Missense	37/66	-
22-25435952-T-C	KIAA1671	c.2855T>C	p.L952S	Missense	5/13	-
10-118897402-C-T	VAX1	c.166G>A	p.A56T	Missense	1/3	-
11-124294379-A-G	OR8B4	c.389T>C	p.L130P	Missense	1/1	-
1-153963595-C-T	RPS27	c.11C>T	p.A4V	Missense	2/4	-
12-56086953-C-T	ITGA7	c.2684G>A	p.C895Y	Missense	20/25	-
1-173628454-G-A	ANKRD45	c.104C>T	p.P35L	Missense	2/6	-
5-33963927-G-T	SLC45A2	c.757C>A	p.Q253K	Missense	3/7	-
2-211457630-T-C	CPS1	c.1114T>C	p.F372L	Missense	11/38	-
2-211457632-C-A	CPS1	c.1116C>A	p.F372L	Missense	11/38	-
2-211457632-C-G	CPS1	c.1116C>G	p.F372L	Missense	11/38	-
4-110454771-A-G	SEC24B	c.3518A>G	p.K1173R	Missense	22/24	-
13-38211320-T-A	TRPC4	c.2654A>T	p.Q885L	Missense	11/11	-
2-211476916-T-C	CPS1	c.2467T>C	p.F823L	Missense	20/38	-
2-211476918-C-A	CPS1	c.2469C>A	p.F823L	Missense	20/38	-
2-211476918-C-G	CPS1	c.2469C>G	p.F823L	Missense	20/38	-
2-242794872-C-A	PDCD1	c.337G>T	p.A113S	Missense	2/5	-
3-12949956-G-A	IQSEC1	c.2648C>T	p.S883L	Missense	12/15	-
13-45147329-G-A	TSC22D1	c.2882C>T	p.T961M	Missense	1/3	-
13-96513110-G-C	UGGT2	c.3672C>G	p.N1224K	Missense	32/39	-
13-96513110-G-T	UGGT2	c.3672C>A	p.N1224K	Missense	32/39	-
3-178745307-A-C	ZMAT3	c.562T>G	p.S188A	Missense	5/6	-
3-49050544-A-G	WDR6	c.1667A>G	p.K526R	Missense	2/6	-
17-7294104-C-T	PLSCR3	c.680G>A	p.R227Q	Missense	7/8	-
16-29706165-CCCAACTCAACTGCCAAGT-C	QPRT	c.196_213del18	p.Q66_V71del	InFrameDeletion	2/4	-
16-29706156-CCATATTTACCCAACTCAA-C	QPRT	c.187_204del18	p.I63_N68del	InFrameDeletion	2/4	-
16-29708397-GGCAGCTGAGGCTGGTGCC-G	QPRT	c.632_649del18	p.A211_A216del	InFrameDeletion	3/4	-
4-87696360-G-A	PTPN13	c.5545G>A	p.D1849N	Missense	34/48	-
12-20868144-G-T	SLCO1C1	c.601G>T	p.E201*	Nonsense	6/15	-
4-186067991-G-C	SLC25A4	c.763G>C	p.V255L	Missense	4/4	-
5-16465201-T-G	ZNF622	c.574A>C	p.K192Q	Missense	1/6	-
2-39996975-T-G	THUMPD2	c.547A>C	p.K183Q	Missense	3/10	-
5-76715677-T-C	PDE8B	c.2215T>C	p.F739L	Missense	19/22	-
5-76715679-T-A	PDE8B	c.2217T>A	p.F739L	Missense	19/22	-
5-76715679-T-G	PDE8B	c.2217T>G	p.F739L	Missense	19/22	-
5-76721679-T-C	PDE8B	c.2506T>C	p.F836L	Missense	21/22	-
5-76721681-C-A	PDE8B	c.2508C>A	p.F836L	Missense	21/22	-
5-76721681-C-G	PDE8B	c.2508C>G	p.F836L	Missense	21/22	-
12-27455119-G-A	STK38L	c.184G>A	p.E62K	Missense	3/14	-
7-94163027-C-T	CASD1	c.541C>T	p.L181F	Missense	7/18	-
15-23812094-C-T	MKRN3	c.1165C>T	p.Q389*	Nonsense	1/1	-
15-43814764-G-C	MAP1A	c.1093G>C	p.E365Q	Missense	4/6	-
1-160806038-C-A	CD244	c.841G>T	p.E281*	Nonsense	6/9	-
5-79054602-C-G	CMYA5	c.11137C>G	p.Q3713E	Missense	7/13	-
1-156021645-T-C	UBQLN4	c.112A>G	p.K38E	Missense	2/11	-
5-98228258-T-G	CHD1	c.2151A>C	p.E717D	Missense	15/36	-
5-98228258-T-A	CHD1	c.2151A>T	p.E717D	Missense	15/36	-
19-5244325-C-T	PTPRS	c.1157G>A	p.R386H	Missense	11/38	-
1-152278450-C-T	FLG	c.8912G>A	p.R2971K	Missense	3/3	-
8-57026157-C-T	MOS	c.385G>A	p.A129T	Missense	1/1	-
6-65300916-G-T	EYS	c.4844C>A	p.T1615N	Missense	26/43	-
6-79713547-A-C	PHIP	c.1553T>G	p.F518C	Missense	16/40	-
1-11994870-T-A	PLOD1	c.34T>A	p.W12R	Missense	1/19	-
1-11994870-T-C	PLOD1	c.34T>C	p.W12R	Missense	1/19	-
7-96651658-C-G	DLX5	c.379G>C	p.V127L	Missense	2/3	-
7-96651658-C-A	DLX5	c.379G>T	p.V127L	Missense	2/3	-
8-91094279-T-A	CALB1	c.131A>T	p.Q44L	Missense	2/11	-
8-110493674-A-T	PKHD1L1	c.9340A>T	p.I3114F	Missense	56/78	-
20-35443599-A-C	SOGA1	c.2246T>G	p.L749R	Missense	5/15	-
10-532426-T-G	DIP2C	c.130A>C	p.I44L	Missense	2/37	-
8-105509948-A-G	LRP12	c.832T>C	p.F278L	Missense	5/7	-
8-105509946-A-T	LRP12	c.834T>A	p.F278L	Missense	5/7	-
8-105509946-A-C	LRP12	c.834T>G	p.F278L	Missense	5/7	-
10-1406100-G-A	ADARB2	c.200C>T	p.A67V	Missense	3/10	-
10-49446150-C-A	FRMPD2	c.805G>T	p.D269Y	Missense	8/29	-
19-55889459-C-T	TMEM190	c.422C>T	p.T141M	Missense	5/5	-
19-6016251-G-A	RFX2	c.629C>T	p.A210V	Missense	7/18	-
11-55563552-A-C	OR5D14	c.521A>C	p.N174T	Missense	1/1	-
11-56058467-C-A	OR8H1	c.72G>T	p.Q24H	Missense	2/2	-
11-56058467-C-G	OR8H1	c.72G>C	p.Q24H	Missense	2/2	-
11-56128348-G-T	OR8J1	c.626G>T	p.G209V	Missense	2/2	-
3-97595403-C-T	CRYBG3	c.5365C>T	p.R1789*	Nonsense	4/22	-
15-69080230-C-G	ANP32A	c.83G>C	p.R28P	Missense	2/7	-
3-169485401-T-C	ACTRT3	c.938A>G	p.D313G	Missense	2/2	-
1-84373318-G-A	TTLL7	c.1813C>T	p.P605S	Missense	16/21	-
2-26204045-C-T	KIF3C	c.742G>A	p.A248T	Missense	1/8	-
11-35461189-C-G	PAMR1	c.1086G>C	p.M362I	Missense	8/11	-
11-35461189-C-T	PAMR1	c.1086G>A	p.M362I	Missense	8/11	-
11-35461189-C-A	PAMR1	c.1086G>T	p.M362I	Missense	8/11	-
20-35219503-C-T	TGIF2	c.383C>T	p.S128F	Missense	3/3	-
1-168148335-A-T	TIPRL	c.20A>T	p.Q7L	Missense	1/7	-
4-86898749-C-T	ARHGAP24	c.833C>T	p.S278L	Missense	8/10	-
18-76752421-G-A	SALL3	c.430G>A	p.A144T	Missense	2/3	-
18-21413823-A-C	LAMA3	c.2855A>C	p.Q952P	Missense	24/75	-
19-5783971-T-C	PRR22	c.287A>G	p.K96R	Missense	3/3	-
16-30794963-G-A	ZNF629	c.686C>T	p.T229M	Missense	3/3	-
8-9413556-GCCCTGGCCTGGCCCCGGGGACCAC-G	TNKS	c.111_134del24	p.G38_P45del	InFrameDeletion	1/27	-
8-139833407-T-C	COL22A1	c.1217A>G	p.K406R	Missense	7/65	-
8-144696571-C-T	GFUS	c.517G>A	p.V173I	Missense	6/11	-
9-100692526-A-C	HEMGN	c.1151T>G	p.I384R	Missense	3/4	-
10-73048729-A-G	UNC5B	c.1081A>G	p.S361G	Missense	8/17	-
11-63531851-C-T	ZFTA	c.1244G>A	p.R415H	Missense	4/5	-
11-69465940-C-G	CCND1	c.778C>G	p.R260G	Missense	5/5	-
11-69465943-C-G	CCND1	c.781C>G	p.Q261E	Missense	5/5	-
14-21969173-A-T	METTL3	c.998T>A	p.I333N	Missense	5/11	-
16-2025046-C-A	TBL3	c.582C>A	p.H194Q	Missense	7/22	-
16-2025046-C-G	TBL3	c.582C>G	p.H194Q	Missense	7/22	-
16-18887508-C-T	SMG1	c.1828G>A	p.V610I	Missense	13/63	-
14-21971394-T-G	METTL3	c.645A>C	p.K215N	Missense	3/11	-
14-21971394-T-A	METTL3	c.645A>T	p.K215N	Missense	3/11	-
7-6590660-C-G	GRID2IP	c.408G>C	p.K136N	Missense	1/22	-
7-6590660-C-A	GRID2IP	c.408G>T	p.K136N	Missense	1/22	-
16-18900769-T-G	SMG1	c.747A>C	p.K249N	Missense	6/63	-
16-18900769-T-A	SMG1	c.747A>T	p.K249N	Missense	6/63	-
16-18903579-C-G	SMG1	c.510G>C	p.K170N	Missense	4/63	-
16-18903579-C-A	SMG1	c.510G>T	p.K170N	Missense	4/63	-
17-39680728-C-T	KRT19	c.725G>A	p.G242D	Missense	4/6	-
2-177016489-G-A	HOXD4	c.128G>A	p.G43D	Missense	1/2	-
20-31885346-G-A	BPIFB1	c.613G>A	p.E205K	Missense	7/16	-
22-32009730-GC-AA	SFI1	c.2885_2886delGCinsAA	p.R962Q	Missense	27/33	-
21-15599402-G-A	RBM11	c.634G>A	p.V212M	Missense	5/5	-
X-68382882-C-A	PJA1	c.35G>T	p.R12M	Missense	2/2	-
2-172582431-C-T	DYNC1I2	c.610C>T	p.P204S	Missense	9/18	-
21-15599423-GTT-ATG	RBM11	c.655_657delGTTinsATG	p.V219M	Missense	5/5	-
1-17274871-C-G	CROCC	c.2560C>G	p.R854G	Missense	18/37	-
2-53977964-T-A	ASB3	c.311A>T	p.D104V	Missense	3/10	-
1-52975359-C-T	TUT4	c.908G>A	p.R303Q	Missense	4/30	-
1-89835161-G-A	GBP6	c.247G>A	p.V83M	Missense	3/11	-
1-237777821-C-T	RYR2	c.5393C>T	p.A1798V	Missense	37/105	-
20-55840851-C-T	BMP7	c.328G>A	p.V110I	Missense	1/7	-
1-245530313-G-C	KIF26B	c.643G>C	p.D215H	Missense	3/15	-
5-147491383-C-T	SPINK5	c.1745C>T	p.T582I	Missense	19/33	-
2-71650243-T-C	ZNF638	c.3599T>C	p.L1200S	Missense	22/28	-
4-107230006-T-G	TBCK	c.112A>C	p.I38L	Missense	2/26	-
4-107157597-C-A	TBCK	c.1300G>T	p.D434Y	Missense	14/26	-
5-167835539-C-A	WWC1	c.748C>A	p.R250S	Missense	7/23	-
5-112769878-T-A	TSSK1B	c.659A>T	p.N220I	Missense	1/1	-
17-11650939-G-A	DNAH9	c.6466G>A	p.G2156S	Missense	32/69	-
17-74035966-T-C	SRP68	c.1705A>G	p.T569A	Missense	16/16	-
5-167868811-T-C	WWC1	c.2405T>C	p.M802T	Missense	16/23	-
17-47241450-A-G	B4GALNT2	c.767A>G	p.E256G	Missense	8/11	-
3-85935391-G-A	CADM2	c.443G>A	p.G148D	Missense	5/10	-
17-47237926-A-G	B4GALNT2	c.689A>G	p.E230G	Missense	7/11	-
5-76749654-G-T	WDR41	c.511C>A	p.L171I	Missense	6/13	-
3-98620104-C-G	DCBLD2	c.67G>C	p.A23P	Missense	1/16	-
1-40703602-A-G	RLF	c.3228A>G	p.I1076M	Missense	8/8	-
3-126135184-G-A	CFAP100	c.251G>A	p.R84Q	Missense	5/17	-
19-663061-C-T	RNF126	c.61G>A	p.V21I	Missense	1/9	-
19-38074973-G-T	ZNF571	c.35C>A	p.A12D	Missense	3/4	-
4-5617247-G-A	EVC2	c.2731C>T	p.R911W	Missense	16/22	-
5-16091102-C-T	MARCHF11	c.782G>A	p.W261*	Nonsense	3/4	-
5-16091101-C-T	MARCHF11	c.783G>A	p.W261*	Nonsense	3/4	-
5-60837784-C-T	ZSWIM6	c.2777C>T	p.T926I	Missense	13/14	-
4-107163686-C-A	TBCK	c.1111G>T	p.D371Y	Missense	12/26	-
6-52344562-A-C	EFHC1	c.1617A>C	p.E539D	Missense	9/11	-
6-52344562-A-T	EFHC1	c.1617A>T	p.E539D	Missense	9/11	-
X-30260295-C-T	MAGEB4	c.43C>T	p.R15C	Missense	1/1	-
6-89808650-A-C	SRSF12	c.433T>G	p.F145V	Missense	5/5	-
11-65391990-A-T	PCNX3	c.2765A>T	p.Q922L	Missense	15/35	-
13-114157814-A-G	TMCO3	c.949A>G	p.I317V	Missense	6/13	-
11-65658396-G-A	CCDC85B	c.142G>A	p.E48K	Missense	1/1	-
19-39070676-A-G	RYR1	c.14419A>G	p.N4807D	Missense	100/106	-
20-60899560-TC-AT	LAMA5	c.5579_5580delGAinsAT	p.R1860H	Missense	42/80	-
12-86268186-T-C	NTS	c.5T>C	p.M2T	Missense	1/4	-
12-88512298-T-C	CEP290	c.1673A>G	p.Q558R	Missense	17/54	-
11-113815456-G-A	HTR3B	c.1069G>A	p.A357T	Missense	8/9	-
15-90022600-A-G	RHCG	c.790T>C	p.S264P	Missense	5/11	-
17-39197376-C-G	KRTAP1-1	c.274G>C	p.G92R	Missense	1/1	-
17-41738526-G-T	MEOX1	c.377C>A	p.T126N	Missense	1/3	-
17-72999712-G-A	CDR2L	c.941G>A	p.R314H	Missense	5/5	-
10-48381933-C-T	RBP3	c.3716G>A	p.R1239Q	Missense	4/4	-
9-96019276-C-G	WNK2	c.2237C>G	p.P746R	Missense	10/29	-
18-72226591-T-A	CNDP1	c.187T>A	p.S63T	Missense	3/12	-
2-109964381-C-G	SH3RF3	c.825C>G	p.D275E	Missense	2/10	-
2-109964381-C-A	SH3RF3	c.825C>A	p.D275E	Missense	2/10	-
7-148769226-C-T	ZNF786	c.638G>A	p.R213Q	Missense	4/4	-
2-37468844-C-T	NDUFAF7	c.532C>T	p.R178*	Nonsense	5/10	-
8-144672242-C-T	EEF1D	c.10G>A	p.G4R	Missense	3/10	-
8-144672242-C-G	EEF1D	c.10G>C	p.G4R	Missense	3/10	-
1-222802053-TTCTGTTCACAGCAATAACCTCAAC-T	MIA3	c.1495_1518del24	p.V499_S506del	InFrameDeletion	4/28	-
1-222801560-TTACAGATGGGGAAGATATGAAAAC-T	MIA3	c.1000_1023del24	p.T334_T341del	InFrameDeletion	4/28	-
10-61028328-T-A	FAM13C	c.927A>T	p.Q309H	Missense	8/14	-
10-61028328-T-G	FAM13C	c.927A>C	p.Q309H	Missense	8/14	-
1-20987831-T-C	DDOST	c.64A>G	p.T5A	Missense	1/11	-
4-73956780-G-A	ANKRD17	c.6565C>T	p.H2189Y	Missense	29/34	-
1-29641954-G-A	PTPRU	c.3298G>A	p.V1100I	Missense	23/30	-
9-107298725-A-C	OR13C3	c.370T>G	p.F124V	Missense	1/1	-
1-75684362-A-C	SLC44A5	c.1342T>G	p.L448V	Missense	17/24	-
8-57905994-C-T	BPNT2	c.151G>A	p.G51R	Missense	1/5	-
8-57905994-C-G	BPNT2	c.151G>C	p.G51R	Missense	1/5	-
1-152882929-A-G	IVL	c.656A>G	p.Q219R	Missense	2/2	-
1-161049622-G-A	NECTIN4	c.197C>T	p.A66V	Missense	2/9	-
7-148080950-G-A	CNTNAP2	c.3685G>A	p.D1229N	Missense	22/24	-
1-231885678-C-T	DISC1	c.1124C>T	p.T375M	Missense	4/13	-
1-238045841-C-T	ZP4	c.1504G>A	p.V502I	Missense	12/12	-
15-79339201-G-T	RASGRF1	c.765C>A	p.Y255*	Nonsense	5/27	-
15-79339201-G-C	RASGRF1	c.765C>G	p.Y255*	Nonsense	5/27	-
2-86075135-C-A	ST3GAL5	c.511G>T	p.V171F	Missense	4/7	-
15-48441440-G-A	MYEF2	c.1507C>T	p.R503*	Nonsense	15/17	-
2-97494739-C-T	CNNM3	c.1927C>T	p.R643*	Nonsense	7/8	-
2-97651993-G-A	FAM178B	c.58C>T	p.R20W	Missense	1/17	-
2-133541939-T-G	NCKAP5	c.2445A>C	p.K815N	Missense	14/20	-
2-133541939-T-A	NCKAP5	c.2445A>T	p.K815N	Missense	14/20	-
5-140724790-C-A	PCDHGA3	c.1190C>A	p.S397*	Nonsense	1/4	-
5-140724790-C-G	PCDHGA3	c.1190C>G	p.S397*	Nonsense	1/4	-
14-23816382-C-A	SLC22A17	c.1202G>T	p.G401V	Missense	9/10	-
14-23895281-T-A	MYH7	c.2054A>T	p.D685V	Missense	19/40	-
2-225637935-G-T	DOCK10	c.6143C>A	p.T2048K	Missense	53/56	-
14-102891455-G-A	TECPR2	c.778G>A	p.A260T	Missense	6/20	-
3-8609274-A-C	LMCD1	c.1088A>C	p.K363T	Missense	6/6	-
15-53908017-T-A	WDR72	c.2386A>T	p.K796*	Nonsense	15/20	-
15-48441511-CG-TA	MYEF2	c.1435_1436delCGinsTA	p.R479*	Nonsense	15/17	-
3-15282118-G-A	CAPN7	c.1546G>A	p.D516N	Missense	13/21	-
14-56083241-A-G	KTN1	c.530A>G	p.Q177R	Missense	3/44	-
15-23932206-C-G	NDN	c.159G>C	p.Q53H	Missense	1/1	-
12-124839437-G-C	NCOR2	c.3430C>G	p.P1144A	Missense	27/49	-
5-36035907-A-G	UGT3A2	c.1465T>C	p.F489L	Missense	7/7	-
5-36035905-A-T	UGT3A2	c.1467T>A	p.F489L	Missense	7/7	-
5-36035905-A-C	UGT3A2	c.1467T>G	p.F489L	Missense	7/7	-
3-122182863-A-G	KPNA1	c.263T>C	p.I88T	Missense	4/14	-
4-47593309-T-G	ATP10D	c.4192T>G	p.L1398V	Missense	23/23	-
4-68688137-T-C	TMPRSS11D	c.1175A>G	p.Q392R	Missense	10/10	-
16-24582517-C-A	RBBP6	c.4130C>A	p.T1377N	Missense	18/18	-
17-27436915-C-T	MYO18A	c.3292G>A	p.G1098S	Missense	19/42	-
12-50822764-G-C	LARP4	c.213G>C	p.M71I	Missense	3/16	-
12-50822764-G-A	LARP4	c.213G>A	p.M71I	Missense	3/16	-
12-50822764-G-T	LARP4	c.213G>T	p.M71I	Missense	3/16	-
17-36718078-C-T	SRCIN1	c.1321G>A	p.A441T	Missense	7/19	-
17-61560456-T-A	ACE	c.1409T>A	p.L470*	Nonsense	9/25	-
17-64785036-G-A	PRKCA	c.1793G>A	p.R598Q	Missense	16/17	-
18-64235674-C-G	CDH19	c.469G>C	p.V157L	Missense	3/12	-
19-19770600-C-T	ATP13A1	c.487G>A	p.G163S	Missense	3/26	-
19-22271702-T-C	ZNF257	c.1150T>C	p.S384P	Missense	4/4	-
11-106849368-A-C	GUCY1A2	c.464T>G	p.L155R	Missense	3/8	-
19-22836771-A-C	ZNF492	c.84A>C	p.K28N	Missense	3/4	-
19-22836771-A-T	ZNF492	c.84A>T	p.K28N	Missense	3/4	-
19-24116700-G-C	ZNF726	c.1782G>C	p.K594N	Missense	4/4	-
19-24116700-G-T	ZNF726	c.1782G>T	p.K594N	Missense	4/4	-
19-38976387-G-T	RYR1	c.5092G>T	p.E1698*	Nonsense	34/106	-
19-49141392-A-G	CA11	c.971T>C	p.V324A	Missense	9/9	-
19-58880363-C-T	ZNF837	c.337G>A	p.G113S	Missense	3/3	-
10-125651018-T-A	CPXM2	c.158A>T	p.E53V	Missense	1/14	-
22-21153543-G-C	PI4KA	c.1842C>G	p.D614E	Missense	16/55	-
22-21153543-G-T	PI4KA	c.1842C>A	p.D614E	Missense	16/55	-
22-31741186-C-T	PATZ1	c.403G>A	p.E135K	Missense	1/5	-
X-21875324-T-G	YY2	c.722T>G	p.V241G	Missense	1/1	-
X-107315920-G-C	VSIG1	c.426G>C	p.K142N	Missense	4/7	-
X-107315920-G-T	VSIG1	c.426G>T	p.K142N	Missense	4/7	-
1-985627-G-A	AGRN	c.4894G>A	p.G1632S	Missense	28/36	-
9-127644847-G-GT	GOLGA1	c.1906_1906dupA	p.T636Nfs*26	SpliceAcceptorInsertion	-	-
17-79818302-GCAC-G	P4HB	c.43_45delGTG	p.V15del	InFrameDeletion	1/11	-
5-140595451-G-A	PCDHB13	c.1756G>A	p.V586M	Missense	1/1	-
5-36677159-G-A	SLC1A3	c.733G>A	p.G245S	Missense	6/10	-
22-41633692-C-T	CHADL	c.1384G>A	p.A462T	Missense	3/6	-
X-69772049-G-C	TEX11	c.2447C>G	p.S816W	Missense	28/30	-
11-74459954-C-T	RNF169	c.29C>T	p.A10V	Missense	1/6	-
X-129215285-G-C	ELF4	c.20C>G	p.P7R	Missense	2/9	-
1-2526773-C-T	MMEL1	c.1526G>A	p.G509E	Missense	16/24	-
12-129558545-A-G	TMEM132D	c.3175T>C	p.Y1059H	Missense	9/9	-
1-173726156-C-T	KLHL20	c.1009C>T	p.R337*	Nonsense	7/12	-
1-248756467-C-A	OR2T10	c.603G>T	p.L201F	Missense	2/2	-
1-248756467-C-G	OR2T10	c.603G>C	p.L201F	Missense	2/2	-
2-27255938-C-G	TMEM214	c.55C>G	p.R19G	Missense	1/17	-
2-238258816-C-G	COL6A3	c.6853G>C	p.G2285R	Missense	28/44	-
10-8100645-G-C	GATA3	c.619G>C	p.A207P	Missense	3/6	-
8-7218672-T-G	ZNF705G	c.99A>C	p.R33S	Missense	4/7	-
8-7218672-T-A	ZNF705G	c.99A>T	p.R33S	Missense	4/7	-
X-71427071-G-A	ERCC6L	c.1546C>T	p.R516*	Nonsense	2/2	-
X-70461141-G-A	ZMYM3	c.3856C>T	p.R1286C	Missense	24/25	-
3-182871763-T-C	LAMP3	c.466A>G	p.T156A	Missense	2/6	-
4-39911878-G-T	PDS5A	c.1073C>A	p.A358E	Missense	10/33	-
X-70461175-CCG-ACA	ZMYM3	c.3820_3822delCGGinsTGT	p.R1274C	Missense	24/25	-
4-109765716-G-C	COL25A1	c.1588C>G	p.P530A	Missense	30/38	-
5-41907862-C-T	RIMOC1	c.125C>T	p.A42V	Missense	2/6	-
7-1477230-C-T	MICALL2	c.2417G>A	p.R806H	Missense	14/17	-
8-2820050-C-A	CSMD1	c.9566G>T	p.G3189V	Missense	61/70	-
8-7215937-T-C	ZNF705G	c.464A>G	p.N155S	Missense	7/7	-
19-23543475-G-A	ZNF91	c.2306C>T	p.P769L	Missense	4/4	-
11-7110938-G-A	RBMXL2	c.587G>A	p.R196Q	Missense	1/1	-
12-57597302-G-A	LRP1	c.10949G>A	p.G3650D	Missense	70/89	-
14-51375055-C-G	PYGL	c.2313G>C	p.R771S	Missense	19/20	-
14-105415639-C-T	AHNAK2	c.6149G>A	p.G2050D	Missense	7/7	-
9-33900217-C-G	UBE2R2	c.310C>G	p.P104A	Missense	3/5	-
10-29822205-A-T	SVIL	c.1091T>A	p.I364N	Missense	8/38	-
16-71885633-C-T	ATXN1L	c.1990C>T	p.R664W	Missense	3/3	-
17-18138414-C-A	LLGL1	c.1072C>A	p.P358T	Missense	10/23	-
17-45822439-C-A	TBX21	c.1315C>A	p.P439T	Missense	6/6	-
18-9134230-A-C	NDUFV2	c.703A>C	p.T235P	Missense	8/8	-
10-37431162-G-T	ANKRD30A	c.1169G>T	p.R446I	Missense	7/36	-
8-3263556-GCG-TCA	CSMD1	c.2257_2259delCGCinsTGA	p.R753*	Nonsense	15/70	-
19-8175735-A-T	FBN3	c.4327T>A	p.C1443S	Missense	34/64	-
19-8175734-C-G	FBN3	c.4328G>C	p.C1443S	Missense	34/64	-
9-84608329-A-T	SPATA31D1	c.2944A>T	p.I982F	Missense	4/4	-
19-12186660-T-C	ZNF844	c.725T>C	p.I242T	Missense	4/4	-
8-122626545-A-G	HAS2	c.1463T>C	p.L488P	Missense	4/4	-
8-10465327-G-A	RP1L1	c.6281C>T	p.A2094V	Missense	4/4	-
19-30313389-G-A	CCNE1	c.989G>A	p.W330*	Nonsense	11/12	-
19-30313390-G-A	CCNE1	c.990G>A	p.W330*	Nonsense	11/12	-
7-150707307-C-T	NOS3	c.2617C>T	p.L873F	Missense	21/27	-
19-38103473-G-A	ZNF540	c.1292G>A	p.R431K	Missense	5/5	-
7-150655542-G-A	KCNH2	c.521C>T	p.T174M	Missense	4/15	-
20-32873410-G-A	AHCY	c.1003C>T	p.R335C	Missense	9/10	-
11-20805244-ATGCAGCTCC-A	NELL1	c.205_213delGCAGCTCCT	p.A69_P71del	InFrameDeletion	3/20	-
11-20805329-AGCCATCCAC-A	NELL1	c.288_296delGCCATCCAC	p.K96_T99delinsN	MultiAAMissense	3/20	-
16-27221865-AGTCGCTGCC-A	KDM8	c.421_429delGTCGCTGCC	p.V141_A143del	InFrameDeletion	2/8	-
16-27221751-AGCCCTGTGT-A	KDM8	c.307_315delGCCCTGTGT	p.A103_C105del	InFrameDeletion	2/8	-
4-92520161-AATTTAC-A	CCSER1	c.2658_2663delTTTACA	p.L887_H888del	InFrameDeletion	11/11	-
5-145537066-TCACCATTCA-T	LARS1	c.956_964delTGAATGGTG	p.V319_G321del	InFrameDeletion	10/32	-
16-72993750-CAGT-C	ZFHX3	c.293_295delACT	p.H98_C99delinsR	MultiAAMissense	2/10	-
1-98205967-GATGAATGAT-G	DPYD	c.294_302delATCATTCAT	p.K98_I101delinsN	MultiAAMissense	4/23	-
16-29821449-C-T	MAZ	c.1331C>T	p.A444V	Missense	5/5	-
16-31129084-A-G	KAT8	c.82A>G	p.N28D	Missense	1/11	-
16-57714435-T-C	ADGRG3	c.787T>C	p.S263P	Missense	8/12	-
1-12025568-C-A	PLOD1	c.1502C>A	p.T501N	Missense	14/19	-
17-71397344-C-T	SDK2	c.2786G>A	p.R929Q	Missense	21/45	-
18-24497022-C-A	CHST9	c.533G>T	p.R178L	Missense	6/6	-
18-65180627-C-T	DSEL	c.1249G>A	p.A407T	Missense	2/2	-
19-13246879-G-C	NACC1	c.858G>C	p.E286D	Missense	2/6	-
19-13246879-G-T	NACC1	c.858G>T	p.E286D	Missense	2/6	-
19-30476134-A-G	URI1	c.157A>G	p.K53E	Missense	3/11	-
19-30476188-A-G	URI1	c.211A>G	p.K71E	Missense	3/11	-
5-145537089-AATGTACTTC-A	LARS1	c.933_941delGAAGTACAT	p.M311_Y313del	InFrameDeletion	10/32	-
5-145537011-TGGTAAAGCC-T	LARS1	c.1012_1020delGGCTTTACC	p.G338_T340del	InFrameDeletion	10/32	-
5-145533507-ATGTTAAAGG-A	LARS1	c.1093_1101delCCTTTAACA	p.P365_T367del	InFrameDeletion	11/32	-
X-48775871-A-T	PIM2	c.113T>A	p.L38Q	Missense	2/6	-
17-71468332-T-C	SDK2	c.250A>G	p.T84A	Missense	3/45	-
11-67800697-G-C	NDUFS8	c.319G>C	p.G107R	Missense	5/7	-
3-48694167-C-T	CELSR3	c.4363G>A	p.G1455R	Missense	2/35	-
3-48694167-C-G	CELSR3	c.4363G>C	p.G1455R	Missense	2/35	-
15-79382599-G-A	RASGRF1	c.242C>T	p.P81L	Missense	1/27	-
20-37353507-G-A	SLC32A1	c.140G>A	p.C47Y	Missense	1/2	-
9-118982329-G-T	PAPPA	c.2032G>T	p.A678S	Missense	5/22	-
10-73270744-AGC-TGA	CDH23	c.322_324delAGCinsTGA	p.S108*	Nonsense	5/70	-
10-27524141-C-G	ACBD5	c.182G>C	p.G61A	Missense	3/13	-
1-109870157-A-G	SORT1	c.1438T>C	p.S480P	Missense	12/20	-
5-115815942-C-A	SEMA6A	c.1126G>T	p.E376*	Nonsense	12/19	-
8-145158654-C-G	SHARPIN	c.3G>C	p.M1?	Missense	1/9	-
19-59074661-G-T	MZF1	c.983C>A	p.P328H	Missense	6/6	-
X-47835890-A-T	ZNF182	c.1539T>A	p.H513Q	Missense	6/6	-
X-47835890-A-C	ZNF182	c.1539T>G	p.H513Q	Missense	6/6	-
X-53114166-G-A	TSPYL2	c.1028G>A	p.R343H	Missense	4/7	-
1-44072097-G-A	PTPRF	c.3670G>A	p.V1224M	Missense	20/34	-
8-145158654-C-T	SHARPIN	c.3G>A	p.M1?	Missense	1/9	-
8-145158654-C-A	SHARPIN	c.3G>T	p.M1?	Missense	1/9	-
10-71874765-A-G	AIFM2	c.881T>C	p.M294T	Missense	8/9	-
11-9165812-G-A	DENND5A	c.3136C>T	p.R1046W	Missense	19/23	-
5-168727683-C-T	SLIT3	c.31G>A	p.A11T	Missense	1/36	-
5-32783045-C-T	NPR3	c.1337C>T	p.P446L	Missense	6/8	-
1-86904704-G-A	CLCA2	c.1118G>A	p.R373Q	Missense	7/14	-
X-91131923-A-T	PCDH11X	c.684A>T	p.Q228H	Missense	6/11	-
X-91131923-A-C	PCDH11X	c.684A>C	p.Q228H	Missense	6/11	-
X-92926901-A-T	NAP1L3	c.1403T>A	p.I468N	Missense	1/1	-
11-124756560-G-T	ROBO4	c.2594C>A	p.T865N	Missense	16/18	-
15-79284070-G-C	RASGRF1	c.3094C>G	p.L1032V	Missense	21/27	-
11-6023424-C-A	OR56A4	c.955G>T	p.A267S	Missense	3/3	-
11-21392455-G-A	NELL1	c.1606G>A	p.V536I	Missense	15/20	-
1-26689617-C-T	ZNF683	c.1043G>A	p.R348H	Missense	5/6	-
2-215854330-T-C	ABCA12	c.3640A>G	p.T1214A	Missense	25/53	-
11-67800697-G-A	NDUFS8	c.319G>A	p.G107R	Missense	5/7	-
3-192516577-C-A	MB21D2	c.1074G>T	p.L358F	Missense	2/2	-
3-192516577-C-G	MB21D2	c.1074G>C	p.L358F	Missense	2/2	-
15-64444524-G-T	SNX22	c.158G>T	p.R53L	Missense	2/7	-
2-223797988-T-G	ACSL3	c.1837T>G	p.Y613D	Missense	15/17	-
2-179343082-T-C	FKBP7	c.145A>G	p.T49A	Missense	1/4	-
19-1978619-A-G	CSNK1G2	c.317A>G	p.Y106C	Missense	5/12	-
20-1638297-C-A	SIRPG	c.64G>T	p.G22*	Nonsense	1/6	-
8-32616882-C-T	NRG1	c.989C>T	p.T330I	Missense	10/12	-
17-7579316-GCAAGTCACA-G	TP53	c.363_371delTGTGACTTG	p.V122_C124del	InFrameDeletion	4/11	-
17-7579397-GACAGAAGAT-G	TP53	c.282_290delATCTTCTGT	p.S95_V97del	InFrameDeletion	4/11	-
17-7578199-CACCACACTA-C	TP53	c.642_650delTAGTGTGGT	p.H214_V217delinsQ	MultiAAMissense	6/11	-
2-211319831-C-T	LANCL1	c.407G>A	p.R136Q	Missense	4/10	-
19-54784339-C-T	LILRB2	c.13G>A	p.V5I	Missense	2/14	-
19-53079259-A-G	ZNF701	c.127A>G	p.N43D	Missense	3/4	-
3-101576014-T-G	NFKBIZ	c.1922T>G	p.F641C	Missense	10/12	-
3-179439215-A-G	USP13	c.926A>G	p.D309G	Missense	8/21	-
19-50154895-G-A	SCAF1	c.1249G>A	p.A417T	Missense	7/11	-
19-13008594-A-G	GCDH	c.1160A>G	p.D387G	Missense	11/12	-
5-13913913-G-A	DNAH5	c.1475C>T	p.T492M	Missense	11/79	-
19-8619429-G-C	MYO1F	c.258C>G	p.I86M	Missense	4/28	-
5-54721131-C-A	PLPP1	c.758G>T	p.R253I	Missense	6/6	-
13-25670781-G-A	PABPC3	c.445G>A	p.E149K	Missense	1/1	-
12-115112230-C-T	TBX3	c.1450G>A	p.A484T	Missense	6/7	-
19-8619366-G-C	MYO1F	c.321C>G	p.I107M	Missense	4/28	-
12-69742196-C-T	LYZ	c.8C>T	p.A3V	Missense	1/4	-
19-7997758-G-A	TIMM44	c.829C>T	p.R277W	Missense	8/13	-
5-140554199-G-T	PCDHB7	c.1783G>T	p.D595Y	Missense	1/1	-
14-23393567-G-T	PRMT5	c.1111C>A	p.L371M	Missense	11/17	-
14-23393516-G-T	PRMT5	c.1162C>A	p.L388M	Missense	11/17	-
5-140603593-T-G	PCDHB14	c.516T>G	p.I172M	Missense	1/1	-
8-27779402-C-T	SCARA5	c.602G>A	p.R201H	Missense	4/9	-
5-150646336-G-C	GM2A	c.288G>C	p.K96N	Missense	3/4	-
5-150646336-G-T	GM2A	c.288G>T	p.K96N	Missense	3/4	-
15-24922357-C-T	NPAP1	c.1343C>T	p.P448L	Missense	1/1	-
18-21416973-C-T	LAMA3	c.3013C>T	p.H1005Y	Missense	25/75	-
13-114018209-A-C	GRTP1	c.49T>G	p.F17V	Missense	2/8	-
14-22038690-G-C	OR10G3	c.186C>G	p.I62M	Missense	2/2	-
17-78073356-C-T	CCDC40	c.3211C>T	p.R1071C	Missense	20/20	-
7-87069040-C-G	ABCB4	c.1674G>C	p.E558D	Missense	14/28	-
7-87069040-C-A	ABCB4	c.1674G>T	p.E558D	Missense	14/28	-
17-66533811-C-T	FAM20A	c.1433G>A	p.R478Q	Missense	11/11	-
8-125113442-A-G	FER1L6	c.4988A>G	p.Y1663C	Missense	38/41	-
9-97325734-C-T	FBP2	c.715G>A	p.A239T	Missense	6/7	-
9-139740343-G-A	AJM1	c.1477G>A	p.V493I	Missense	3/3	-
17-54672063-C-T	NOG	c.479C>T	p.A160V	Missense	1/1	-
9-139748993-C-T	MAMDC4	c.799C>T	p.R267C	Missense	8/27	-
9-140108804-G-A	NDOR1	c.661G>A	p.G221S	Missense	6/14	-
15-49882158-G-A	FAM227B	c.152C>T	p.S51L	Missense	4/16	-
16-4881999-C-T	GLYR1	c.518G>A	p.R173Q	Missense	5/16	-
3-179448003-T-G	USP13	c.1115T>G	p.F372C	Missense	9/21	-
2-1251169-T-G	SNTG2	c.959T>G	p.F320C	Missense	12/17	-
18-31537383-CCT-ATG	NOL4	c.1333_1335delAGGinsCAT	p.R445H	Missense	8/11	-
15-26828522-TCT-CCA	GABRB3	c.499_501delAGAinsTGG	p.R167W	Missense	5/9	-
20-44515566-T-C	SPATA25	c.274A>G	p.K92E	Missense	2/2	-
22-42322248-G-A	TNFRSF13C	c.224C>T	p.P75L	Missense	2/3	-
1-2338223-C-T	PEX10	c.712G>A	p.G238S	Missense	4/6	-
1-16560128-C-T	CPLANE2	c.244G>A	p.V82M	Missense	2/5	-
1-27120671-C-T	PIGV	c.146C>T	p.S49L	Missense	3/4	-
1-40035659-G-T	PABPC4	c.519C>A	p.F173L	Missense	4/16	-
1-40035659-G-C	PABPC4	c.519C>G	p.F173L	Missense	4/16	-
11-111784396-G-T	HSPB2	c.326G>T	p.R109L	Missense	2/2	-
2-1371176-A-T	SNTG2	c.1550A>T	p.K517M	Missense	17/17	-
2-29117622-G-A	WDR43	c.58G>A	p.A20T	Missense	1/18	-
18-31685048-C-A	NOL4	c.491G>T	p.R164I	Missense	3/11	-
2-179414995-G-C	TTN	c.91570C>G	p.P30524A	Missense	337/363	-
11-2972531-G-C	NAP1L4	c.1080C>G	p.D360E	Missense	14/16	-
11-2972531-G-T	NAP1L4	c.1080C>A	p.D360E	Missense	14/16	-
2-179449618-G-C	TTN	c.64750C>G	p.P21584A	Missense	310/363	-
10-105206988-C-A	CALHM2	c.893G>T	p.R298L	Missense	4/4	-
2-179486211-T-C	TTN	c.45340A>G	p.K15114E	Missense	245/363	-
2-179509335-T-C	TTN	c.40417A>G	p.K13473E	Missense	218/363	-
12-115118786-G-GT	TBX3	c.554_554dupA	p.Y185*	Nonsense	2/7	-
9-114393757-GCGCCCCTGCTGC-G	DNAJC25	c.73_84del12	p.P25_P28del	InFrameDeletion	1/4	-
X-13754692-C-CCAA	OFD1	c.207_208insCAA	p.L69_L70insQ	InFrameInsertion	3/23	-
15-62456775-C-G	C2CD4B	c.409G>C	p.D137H	Missense	2/2	-
15-81585007-A-G	IL16	c.1531A>G	p.S511G	Missense	12/19	-
X-70776936-A-G	OGT	c.1301A>G	p.N434S	Missense	10/22	-
15-61521396-G-T	RORA	c.22C>A	p.P8T	Missense	1/11	-
15-62456775-C-T	C2CD4B	c.409G>A	p.D137N	Missense	2/2	-
20-60318795-G-A	CDH4	c.346G>A	p.V116M	Missense	3/16	-
20-60318684-GTT-ATG	CDH4	c.235_237delGTTinsATG	p.V79M	Missense	3/16	-
17-32598807-A-C	CCL7	c.286A>C	p.T96P	Missense	3/3	-
17-38031675-G-A	ZPBP2	c.877G>A	p.A293T	Missense	7/8	-
17-42476476-C-T	GPATCH8	c.2969G>A	p.R990Q	Missense	8/8	-
19-5843868-G-A	FUT3	c.983C>T	p.P328L	Missense	3/3	-
17-66511578-G-T	PRKAR1A	c.38G>T	p.R13L	Missense	2/11	-
19-12576034-A-C	ZNF709	c.702T>G	p.S234R	Missense	4/4	-
19-12576034-A-T	ZNF709	c.702T>A	p.S234R	Missense	4/4	-
19-12576036-T-G	ZNF709	c.700A>C	p.S234R	Missense	4/4	-
19-17170445-T-G	HAUS8	c.342A>C	p.K114N	Missense	6/11	-
19-17170445-T-A	HAUS8	c.342A>T	p.K114N	Missense	6/11	-
19-39663920-G-T	PAK4	c.567G>T	p.Q189H	Missense	4/10	-
19-39663920-G-C	PAK4	c.567G>C	p.Q189H	Missense	4/10	-
19-55945073-C-T	SHISA7	c.1067G>A	p.G356D	Missense	4/4	-
16-28734871-C-T	EIF3C	c.1039C>T	p.R347C	Missense	10/21	-
20-55099872-C-T	FAM209A	c.8C>T	p.T3M	Missense	1/2	-
13-109779659-T-C	MYO16	c.3812T>C	p.F1271S	Missense	31/35	-
21-10942758-C-G	TPTE	c.683G>C	p.R228T	Missense	13/24	-
X-13786895-A-G	OFD1	c.2987A>G	p.K996R	Missense	22/23	-
12-21998641-T-C	ABCC9	c.2992A>G	p.I998V	Missense	26/40	-
X-119438278-T-G	TMEM255A	c.127A>C	p.I43L	Missense	2/9	-
2-110602733-C-A	RGPD5	c.4975C>A	p.R1659S	Missense	21/23	-
3-73432881-G-A	PDZRN3	c.2836C>T	p.R946C	Missense	10/10	-
6-117199085-A-G	RFX6	c.350A>G	p.K117R	Missense	2/19	-
3-81635248-T-G	GBE1	c.1330A>C	p.I444L	Missense	10/16	-
4-148555541-A-C	TMEM184C	c.1273A>C	p.I425L	Missense	10/10	-
4-148555541-A-T	TMEM184C	c.1273A>T	p.I425L	Missense	10/10	-
5-90049493-A-G	ADGRV1	c.11224A>G	p.I3742V	Missense	54/90	-
13-113814351-A-G	PROZ	c.94A>G	p.N32D	Missense	2/8	-
9-140137065-G-A	TUBB4B	c.395G>A	p.G132D	Missense	4/4	-
10-38343773-A-T	ZNF33A	c.721A>T	p.N241Y	Missense	5/5	-
3-121980878-A-C	CASR	c.996A>C	p.E332D	Missense	4/7	-
3-121980878-A-T	CASR	c.996A>T	p.E332D	Missense	4/7	-
10-38343644-A-T	ZNF33A	c.592A>T	p.N198Y	Missense	5/5	-
11-44148417-T-G	EXT2	c.991T>G	p.L331V	Missense	6/14	-
13-46287332-C-A	CBY2	c.172C>A	p.P58T	Missense	3/3	-
9-139749002-G-A	MAMDC4	c.808G>A	p.A270T	Missense	8/27	-
12-27110576-T-G	FGFR1OP2	c.296T>G	p.L99R	Missense	4/7	-
13-26043226-C-T	ATP8A2	c.188C>T	p.P63L	Missense	2/37	-
11-63667517-A-T	MARK2	c.703A>T	p.S235C	Missense	8/19	-
3-98002146-G-A	OR5H2	c.415G>A	p.V139M	Missense	1/1	-
11-64863730-C-G	VPS51	c.8C>G	p.A3G	Missense	1/10	-
3-58107208-C-T	FLNB	c.3104C>T	p.S1035L	Missense	20/46	-
2-182323009-A-G	ITGA4	c.284A>G	p.K95R	Missense	2/28	-
12-53203201-T-C	KRT4	c.800A>G	p.D267G	Missense	4/9	-
12-65226026-A-T	TBC1D30	c.536A>T	p.N179I	Missense	5/12	-
11-134079320-G-A	NCAPD3	c.619C>T	p.R207W	Missense	5/35	-
15-23812436-T-C	MKRN3	c.1507T>C	p.F503L	Missense	1/1	-
15-23812438-C-A	MKRN3	c.1509C>A	p.F503L	Missense	1/1	-
15-23812438-C-G	MKRN3	c.1509C>G	p.F503L	Missense	1/1	-
2-152411511-GTAACGTATAAAGAGCTTTGAACTTTTCATATTCTTCCCGATATTTGAT-G	NEB	c.19315_19362del48	p.I6439_L6454del	SpliceAcceptorDeletion	125/182	-
19-9965460-GTTCTGGCCTTTGATGAAGTCTCCCAGGGTACGGAACTCCAGGACCCGGCGGCCTTTGTA-G	OLFM2	c.687_767del2024	p.Y237Lfs*25	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	6/6	-
19-9965154-CATGACCTCGAGGGTGTGCGGGTCCAGCCGGCTGACCACGATGTTGCCCGCGTTCTGGTT-C	OLFM2	c.995_1075del81	p.N339Afs*166	InFrameDeletion	6/6	-
19-9965228-CCCAGAGCCCGCTCTCGTCCACCATGAAGTCCATGTCGGAGAAGCCGCCCCAGGAGTAGG-C	OLFM2	c.921_1001del81	p.P314Rfs*191	InFrameDeletion	6/6	-
15-28263683-C-T	OCA2	c.667G>A	p.V223M	Missense	7/24	-
4-110790835-G-T	LRIT3	c.930G>T	p.W310C	Missense	4/4	-
4-110790835-G-C	LRIT3	c.930G>C	p.W310C	Missense	4/4	-
9-109690175-C-A	ZNF462	c.3982C>A	p.L1328I	Missense	3/13	-
15-24923752-C-A	NPAP1	c.2738C>A	p.S913Y	Missense	1/1	-
8-77895571-T-C	PEX2	c.844A>G	p.K282E	Missense	4/4	-
19-56599916-C-T	ZNF787	c.625G>A	p.A209T	Missense	3/3	-
8-53569739-C-T	RB1CC1	c.2650G>A	p.E884K	Missense	15/24	-
7-100645688-T-G	MUC12	c.11844T>G	p.D3948E	Missense	2/12	-
7-100645688-T-A	MUC12	c.11844T>A	p.D3948E	Missense	2/12	-
19-53311325-T-C	ZNF28	c.77A>G	p.D26G	Missense	3/4	-
20-30585001-G-A	XKR7	c.1481G>A	p.G494E	Missense	3/3	-
7-47874829-C-T	PKD1L1	c.5956G>A	p.V1986I	Missense	38/57	-
7-8009148-G-A	GLCCI1	c.167G>A	p.G56E	Missense	1/8	-
19-19330021-C-T	NCAN	c.371C>T	p.T124M	Missense	3/15	-
6-112508726-C-G	LAMA4	c.892G>C	p.V298L	Missense	8/39	-
6-112508726-C-A	LAMA4	c.892G>T	p.V298L	Missense	8/39	-
19-42462898-G-C	RABAC1	c.259C>G	p.L87V	Missense	2/5	-
19-59068064-T-C	UBE2M	c.337A>G	p.N113D	Missense	4/6	-
22-30035149-A-G	NF2	c.311A>G	p.N104S	Missense	3/16	-
5-151202322-A-G	GLRA1	c.1262T>C	p.I421T	Missense	9/9	-
5-151202298-A-G	GLRA1	c.1286T>C	p.I429T	Missense	9/9	-
1-203138166-G-A	MYBPH	c.1285C>T	p.R429C	Missense	9/11	-
2-18112763-G-T	KCNS3	c.488G>T	p.R163L	Missense	3/3	-
22-32620423-C-T	SLC5A4	c.1496G>A	p.R499H	Missense	13/15	-
1-25228974-C-T	RUNX3	c.887G>A	p.G296D	Missense	5/5	-
2-61391570-G-A	C2orf74	c.493G>A	p.V158M	Missense	5/5	-
1-38288254-G-A	MTF1	c.1306C>T	p.P436S	Missense	9/11	-
2-95540571-G-A	TEKT4	c.764G>A	p.R255H	Missense	4/6	-
5-146030224-C-T	PPP2R2B	c.829G>A	p.A171T	Missense	6/10	-
15-42377295-A-T	PLA2G4D	c.470T>A	p.V157E	Missense	6/20	-
2-95943175-G-A	PROM2	c.836G>A	p.G279E	Missense	7/24	-
2-165948830-T-A	SCN3A	c.4741A>T	p.R1581*	Nonsense	27/28	-
4-36292143-G-A	DTHD1	c.661G>A	p.V346I	Missense	3/10	-
2-173356016-C-G	ITGA6	c.2846C>G	p.S949C	Missense	22/26	-
11-103908097-C-A	DDI1	c.547C>A	p.L183M	Missense	1/1	-
10-71164823-C-T	TACR2	c.956G>A	p.R319Q	Missense	5/5	-
11-67161221-G-A	RAD9A	c.409G>A	p.D137N	Missense	5/11	-
11-56468036-T-C	OR9G1	c.173T>C	p.M58T	Missense	2/2	-
19-10692300-G-T	AP1M2	c.409C>A	p.Q137K	Missense	5/12	-
10-106899219-A-T	SORCS3	c.1277A>T	p.K426M	Missense	8/27	-
11-107328527-C-T	CWF19L2	c.16G>A	p.A6T	Missense	1/18	-
11-108031619-C-G	NPAT	c.4194G>C	p.K1398N	Missense	17/18	-
11-108031619-C-A	NPAT	c.4194G>T	p.K1398N	Missense	17/18	-
11-55029756-A-C	TRIM48	c.13A>C	p.I5L	Missense	1/6	-
10-108466366-G-T	SORCS1	c.1170C>A	p.Y390*	Nonsense	8/26	-
10-108466366-G-C	SORCS1	c.1170C>G	p.Y390*	Nonsense	8/26	-
3-108147698-C-A	MYH15	c.3403G>T	p.E1135*	Nonsense	28/42	-
12-109872859-G-A	MYO1H	c.2033G>A	p.R678H	Missense	20/31	-
11-11373820-G-A	CSNK2A3	c.847C>T	p.R283C	Missense	1/1	-
12-113601879-C-T	DDX54	c.1931G>A	p.S644N	Missense	15/20	-
12-53345966-C-A	KRT18	c.1012C>A	p.L338I	Missense	6/7	-
5-13829791-T-A	DNAH5	c.6272A>T	p.Q2091L	Missense	38/79	-
11-108029738-C-G	NPAT	c.4215G>C	p.K1405N	Missense	18/18	-
11-108029738-C-A	NPAT	c.4215G>T	p.K1405N	Missense	18/18	-
X-130411085-T-G	IGSF1	c.2436A>C	p.K812N	Missense	14/20	-
5-138715671-G-T	SLC23A1	c.742C>A	p.R248S	Missense	7/15	-
7-148454084-G-C	CUL1	c.325G>C	p.D109H	Missense	4/22	-
8-11831617-C-G	DEFB136	c.66G>C	p.M22I	Missense	2/2	-
8-11831617-C-T	DEFB136	c.66G>A	p.M22I	Missense	2/2	-
8-11831617-C-A	DEFB136	c.66G>T	p.M22I	Missense	2/2	-
8-98289548-C-G	TSPYL5	c.525G>C	p.E175D	Missense	1/1	-
8-98289548-C-A	TSPYL5	c.525G>T	p.E175D	Missense	1/1	-
8-104225262-C-G	BAALC	c.276C>G	p.S92R	Missense	2/3	-
8-104225262-C-A	BAALC	c.276C>A	p.S92R	Missense	2/3	-
X-130411085-T-A	IGSF1	c.2436A>T	p.K812N	Missense	14/20	-
22-30640860-T-C	LIF	c.82A>G	p.T28A	Missense	2/3	-
1-55085595-C-A	FAM151A	c.204G>T	p.L68F	Missense	2/8	-
1-55085595-C-G	FAM151A	c.204G>C	p.L68F	Missense	2/8	-
1-6172290-C-G	CHD5	c.5050G>C	p.G1684R	Missense	35/42	-
1-233518339-C-A	MAP3K21	c.2993C>A	p.S998*	Nonsense	10/10	-
1-233518339-C-G	MAP3K21	c.2993C>G	p.S998*	Nonsense	10/10	-
22-30640852-GAC-CAT	LIF	c.88_90delGTCinsATG	p.V30M	Missense	2/3	-
3-30686368-C-T	TGFBR2	c.224C>T	p.S75F	Missense	2/7	-
X-49127243-A-T	PPP1R3F	c.911A>T	p.Q304L	Missense	1/4	-
14-52182188-G-A	FRMD6	c.995G>A	p.R332H	Missense	10/14	-
3-52546652-G-T	STAB1	c.3020G>T	p.W1007L	Missense	28/69	-
1-2160969-C-T	SKI	c.764C>T	p.P255L	Missense	1/7	-
5-158743778-C-G	IL12B	c.902G>C	p.R301P	Missense	7/8	-
13-38172842-A-G	POSTN	c.22T>C	p.F8L	Missense	1/23	-
13-38172840-A-C	POSTN	c.24T>G	p.F8L	Missense	1/23	-
13-37012989-C-T	CCNA1	c.878C>T	p.A293V	Missense	5/9	-
7-142458508-G-A	PRSS1	c.143G>A	p.C48Y	Missense	2/5	-
8-104225260-A-C	BAALC	c.274A>C	p.S92R	Missense	2/3	-
2-95954233-T-G	PROM2	c.2337T>G	p.N779K	Missense	22/24	-
2-95954233-T-A	PROM2	c.2337T>A	p.N779K	Missense	22/24	-
11-45926357-T-A	MAPK8IP1	c.1865T>A	p.V622D	Missense	9/12	-
3-44283784-G-A	TOPAZ1	c.239G>A	p.R80H	Missense	1/20	-
11-60635179-C-T	ZP1	c.145C>T	p.Q49*	Nonsense	1/12	-
16-88958315-C-T	CBFA2T3	c.686G>A	p.R229Q	Missense	5/12	-
4-68708297-C-T	TMPRSS11D	c.296G>A	p.R99K	Missense	4/10	-
4-87728980-G-A	PTPN13	c.7013G>A	p.R2338Q	Missense	45/48	-
4-87728994-AG-CA	PTPN13	c.7027_7028delAGinsCA	p.R2343Q	Missense	45/48	-
4-114284505-G-T	ANK2	c.10768G>T	p.E3590*	Nonsense	40/46	-
12-20890201-A-C	SLCO1C1	c.1543A>C	p.N515H	Missense	11/15	-
14-104639470-G-A	KIF26A	c.1577G>A	p.R526H	Missense	8/15	-
5-108295040-A-G	FER	c.1648A>G	p.I550V	Missense	13/20	-
10-82126469-C-T	DYDC2	c.296C>T	p.T99M	Missense	5/5	-
14-64891533-C-A	MTHFD1	c.739C>A	p.P247T	Missense	9/28	-
17-43552554-T-C	PLEKHM1	c.835A>G	p.K279E	Missense	4/12	-
19-9067690-T-G	MUC16	c.19756A>C	p.M6586L	Missense	3/84	-
19-9067690-T-A	MUC16	c.19756A>T	p.M6586L	Missense	3/84	-
11-77386195-GCCT-G	RSF1	c.3445_3447delAGG	p.R1150del	InFrameDeletion	14/16	-
4-73012890-A-ATTTTTTAAT	NPFFR2	c.930_931insTTTTTTAAT	p.E208_D209insFFN	InFrameInsertion	4/4	-
4-72994623-C-CAATTTTTTT	NPFFR2	c.624_625insTTTTTTAAT	p.N106_I107insFFN	InFrameInsertion	2/4	-
4-72994635-A-ATTTTTTAAT	NPFFR2	c.633_634insTTTTTTAAT	p.A109_G110insFFN	SpliceDonorInsertion	2/4	-
11-94554814-G-A	AMOTL1	c.1240G>A	p.A414T	Missense	4/13	-
11-117299177-G-A	DSCAML1	c.6209C>T	p.P2010L	Missense	33/33	-
13-100206642-A-G	TM9SF2	c.1573A>G	p.I525V	Missense	14/17	-
1-158735878-C-T	OR6N1	c.595G>A	p.D199N	Missense	2/2	-
14-105412142-C-T	AHNAK2	c.9646G>A	p.V3216I	Missense	7/7	-
2-241662043-G-A	KIF1A	c.4495C>T	p.R1499W	Missense	43/49	-
15-64445871-C-T	SNX22	c.380C>T	p.P127L	Missense	5/7	-
8-61654281-G-T	CHD7	c.290G>T	p.G97V	Missense	2/38	-
19-41699228-C-A	CYP2S1	c.59C>A	p.T20K	Missense	1/9	-
11-792399-C-T	SLC25A22	c.647G>A	p.R216H	Missense	8/10	-
16-54967139-G-A	IRX5	c.806G>A	p.R269H	Missense	3/3	-
17-41879200-G-A	MPP3	c.1627C>T	p.R543W	Missense	20/20	-
11-3697477-C-T	NUP98	c.5315G>A	p.R1772Q	Missense	33/33	-
7-95039285-C-T	PON2	c.623G>A	p.S208N	Missense	6/9	-
20-2290947-G-T	TGM3	c.305G>T	p.S102I	Missense	3/13	-
7-87537214-A-C	DBF4	c.1761A>C	p.K587N	Missense	12/12	-
7-87537214-A-T	DBF4	c.1761A>T	p.K587N	Missense	12/12	-
7-100732017-G-A	TRIM56	c.1424G>A	p.S475N	Missense	3/3	-
12-38712250-C-T	ALG10B	c.359C>T	p.P120L	Missense	2/3	-
12-115112495-G-T	TBX3	c.1185C>A	p.H395Q	Missense	6/7	-
12-115112495-G-C	TBX3	c.1185C>G	p.H395Q	Missense	6/7	-
5-121355914-G-A	SRFBP1	c.484G>A	p.A162T	Missense	6/8	-
9-139934313-C-G	NPDC1	c.889G>C	p.G297R	Missense	9/9	-
X-114426894-C-T	RBMXL3	c.2890C>T	p.R964C	Missense	1/1	-
13-114303708-T-C	ATP4B	c.857A>G	p.K286R	Missense	7/7	-
22-38620966-C-G	TMEM184B	c.808G>C	p.E270Q	Missense	8/9	-
16-88878304-C-A	APRT	c.4G>T	p.A2S	Missense	1/5	-
12-54332787-G-A	HOXC13	c.97G>A	p.G33R	Missense	1/2	-
12-54332787-G-C	HOXC13	c.97G>C	p.G33R	Missense	1/2	-
8-55055239-C-T	MRPL15	c.446C>T	p.T149M	Missense	4/5	-
19-12863549-C-T	BEST2	c.143C>T	p.A48V	Missense	2/10	-
8-124121617-G-A	TBC1D31	c.1270G>A	p.E424K	Missense	9/22	-
16-89777345-C-T	VPS9D1	c.907G>A	p.V303M	Missense	10/15	-
3-63849453-G-C	THOC7	c.14C>G	p.T5S	Missense	1/8	-
3-63849454-T-A	THOC7	c.13A>T	p.T5S	Missense	1/8	-
4-110427535-C-T	SEC24B	c.1540C>T	p.Q514*	Nonsense	7/24	-
4-7776496-C-G	AFAP1	c.2032G>C	p.D678H	Missense	15/18	-
4-88414740-G-T	SPARCL1	c.1212C>A	p.H404Q	Missense	4/11	-
4-88414740-G-C	SPARCL1	c.1212C>G	p.H404Q	Missense	4/11	-
3-20027548-G-A	PP2D1	c.1217C>T	p.P406L	Missense	3/3	-
3-9801387-A-G	CAMK1	c.793T>C	p.F265L	Missense	9/12	-
3-9801385-G-T	CAMK1	c.795C>A	p.F265L	Missense	9/12	-
3-9801385-G-C	CAMK1	c.795C>G	p.F265L	Missense	9/12	-
5-141046009-G-A	ARAP3	c.2554C>T	p.R852W	Missense	17/33	-
2-54131253-C-T	PSME4	c.2984G>A	p.G995E	Missense	27/47	-
6-79708019-T-C	PHIP	c.1969A>G	p.R657G	Missense	18/40	-
1-150808953-A-T	ARNT	c.503T>A	p.I168N	Missense	7/22	-
8-24813264-C-T	NEFL	c.766G>A	p.A256T	Missense	1/5	-
8-144809629-A-G	FAM83H	c.2002T>C	p.F668L	Missense	5/5	-
8-144809627-G-T	FAM83H	c.2004C>A	p.F668L	Missense	5/5	-
8-144809627-G-C	FAM83H	c.2004C>G	p.F668L	Missense	5/5	-
10-31134372-C-A	ZNF438	c.2005G>T	p.V669F	Missense	7/7	-
8-133925470-A-T	TG	c.4338A>T	p.Q1446H	Missense	20/48	-
20-37597805-C-A	DHX35	c.122C>A	p.P41H	Missense	2/22	-
19-42260525-T-G	CEACAM6	c.82T>G	p.W28G	Missense	2/6	-
18-44560609-C-T	ELOA2	c.1027G>A	p.D343N	Missense	1/1	-
15-90770793-T-A	SEMA4B	c.1693T>A	p.W565R	Missense	13/14	-
15-90770793-T-C	SEMA4B	c.1693T>C	p.W565R	Missense	13/14	-
4-139163078-C-T	SLC7A11	c.146G>A	p.G49E	Missense	1/12	-
16-2234990-G-A	CASKIN1	c.1286C>T	p.P429L	Missense	13/20	-
16-4524123-T-C	NMRAL1	c.11A>G	p.K4R	Missense	2/6	-
5-19473400-A-T	CDH18	c.2308T>A	p.W770R	Missense	13/13	-
5-19473400-A-G	CDH18	c.2308T>C	p.W770R	Missense	13/13	-
16-75263489-C-G	BCAR1	c.2533G>C	p.D845H	Missense	7/7	-
11-66084295-C-A	CD248	c.204G>T	p.Q68H	Missense	1/1	-
11-66084295-C-G	CD248	c.204G>C	p.Q68H	Missense	1/1	-
5-45462016-G-C	HCN1	c.943C>G	p.L315V	Missense	3/8	-
11-60776095-G-A	CD6	c.559G>A	p.D187N	Missense	4/13	-
16-3602261-C-T	NLRC3	c.2287G>A	p.G763R	Missense	10/21	-
16-3602261-C-G	NLRC3	c.2287G>C	p.G763R	Missense	10/21	-
11-397624-C-T	PKP3	c.1030C>T	p.Q344*	Nonsense	4/13	-
19-46443566-G-A	NOVA2	c.1034C>T	p.P345L	Missense	4/4	-
X-25031647-GGCCGCGGCGGCCGCGGCCGCGGCT-G	ARX	c.441_464del24	p.A148_A155del	InFrameDeletion	2/5	-
X-134031018-C-G	MOSPD1	c.277G>C	p.D93H	Missense	4/6	-
17-48628219-G-T	SPATA20	c.1324G>T	p.G442C	Missense	11/17	-
17-47241534-G-A	B4GALNT2	c.851G>A	p.R284Q	Missense	8/11	-
19-57765418-C-T	ZNF805	c.1231C>T	p.R411*	Nonsense	4/4	-
19-15917978-G-C	OR10H1	c.870C>G	p.I290M	Missense	4/4	-
X-91873512-C-T	PCDH11X	c.3617C>T	p.A1206V	Missense	11/11	-
8-52370114-T-A	PXDNL	c.926A>T	p.N309I	Missense	9/23	-
22-21800833-G-A	HIC2	c.1649G>A	p.R550H	Missense	3/3	-
X-151138659-C-A	GABRE	c.272G>T	p.G91V	Missense	2/9	-
20-2781076-G-A	CPXM1	c.143C>T	p.P48L	Missense	1/14	-
1-3511996-C-G	MEGF6	c.282G>C	p.M94I	Missense	3/37	-
1-3511996-C-T	MEGF6	c.282G>A	p.M94I	Missense	3/37	-
1-3511996-C-A	MEGF6	c.282G>T	p.M94I	Missense	3/37	-
2-27551770-C-T	GTF3C2	c.2068G>A	p.D690N	Missense	15/19	-
2-215890497-A-C	ABCA12	c.1187T>G	p.L396R	Missense	11/53	-
10-445113-G-C	DIP2C	c.1196C>G	p.A399G	Missense	10/37	-
10-1405897-C-A	ADARB2	c.403G>T	p.E135*	Nonsense	3/10	-
3-123044197-T-C	ADCY5	c.2060A>G	p.N687S	Missense	8/21	-
10-26482153-G-C	MYO3A	c.4458G>C	p.E1486D	Missense	32/35	-
10-26482153-G-T	MYO3A	c.4458G>T	p.E1486D	Missense	32/35	-
10-43600626-G-C	RET	c.852G>C	p.E284D	Missense	4/20	-
10-43600626-G-T	RET	c.852G>T	p.E284D	Missense	4/20	-
17-39240664-G-A	KRTAP4-7	c.206G>A	p.C69Y	Missense	1/1	-
4-10446579-T-G	ZNF518B	c.1374A>C	p.E458D	Missense	3/3	-
4-10446579-T-A	ZNF518B	c.1374A>T	p.E458D	Missense	3/3	-
11-10327573-T-A	ADM	c.176T>A	p.V59E	Missense	3/4	-
16-1259273-G-A	CACNA1H	c.3605G>A	p.R1202Q	Missense	17/35	-
5-140779378-G-A	PCDHGB5	c.1684G>A	p.A562T	Missense	1/4	-
11-67267644-G-A	PITPNM1	c.889C>T	p.P297S	Missense	6/24	-
1-230492761-T-A	PGBD5	c.638A>T	p.K213M	Missense	2/7	-
15-72580675-C-T	CELF6	c.1292G>A	p.R431Q	Missense	11/13	-
6-49403300-C-A	MMUT	c.1993G>T	p.D665Y	Missense	12/13	-
6-90411764-C-T	MDN1	c.8165G>A	p.R2722Q	Missense	54/102	-
12-40702423-G-A	LRRK2	c.4114G>A	p.D1372N	Missense	29/51	-
12-60168618-T-G	SLC16A7	c.542T>G	p.L181W	Missense	5/6	-
6-128505772-T-A	PTPRK	c.967A>T	p.I323F	Missense	7/30	-
12-70938433-G-A	PTPRB	c.5398C>T	p.R1800*	Nonsense	22/34	-
15-63547745-T-A	RAB8B	c.286T>A	p.F96I	Missense	4/8	-
12-70949898-CG-TA	PTPRB	c.4744_4745delCGinsTA	p.R1582*	Nonsense	19/34	-
15-43487013-C-T	CCNDBP1	c.1057C>T	p.L353F	Missense	11/11	-
7-136700016-G-A	CHRM2	c.404G>A	p.R135Q	Missense	4/4	-
7-157000246-G-A	UBE3C	c.1573G>A	p.E525K	Missense	12/23	-
12-100453671-G-T	UHRF1BP1L	c.1700C>A	p.S567Y	Missense	13/21	-
8-3256992-C-T	CSMD1	c.2326G>A	p.G776R	Missense	16/70	-
8-3256992-C-G	CSMD1	c.2326G>C	p.G776R	Missense	16/70	-
8-11996130-G-T	USP17L2	c.140C>A	p.A47D	Missense	1/1	-
15-22958203-T-A	CYFIP1	c.1846T>A	p.C616S	Missense	17/31	-
15-22958204-G-C	CYFIP1	c.1847G>C	p.C616S	Missense	17/31	-
8-52320921-G-A	PXDNL	c.3263C>T	p.P1088L	Missense	17/23	-
8-52322115-C-T	PXDNL	c.2069G>A	p.R690Q	Missense	17/23	-
8-69009320-G-C	PREX2	c.2437G>C	p.D813H	Missense	22/40	-
8-110587672-C-G	SYBU	c.1455G>C	p.E485D	Missense	7/7	-
8-110587672-C-A	SYBU	c.1455G>T	p.E485D	Missense	7/7	-
8-134034303-C-T	TG	c.6944C>T	p.P2315L	Missense	40/48	-
8-139642942-G-A	COL22A1	c.3659C>T	p.S1220L	Missense	50/65	-
14-105643048-T-C	NUDT14	c.251A>G	p.D84G	Missense	4/5	-
9-98209522-C-T	PTCH1	c.4016G>A	p.W1339*	Nonsense	23/24	-
14-55169095-A-T	SAMD4A	c.512A>T	p.Y171F	Missense	3/13	-
16-778014-C-A	HAGHL	c.155C>A	p.T52N	Missense	2/8	-
12-46211661-G-GT	ARID2	c.628_628dupT	p.D211*	Nonsense	5/21	-
2-96809757-TCCGCTGTTCTTCACC-T	DUSP2	c.735_749del15	p.W245_G250delins*	MultiAAMissense	4/4	-
5-140794298-TATG-T	PCDHGA10	c.1556_1558delATG	p.Y519_A520delinsS	MultiAAMissense	1/4	-
15-70343755-G-A	TLE3	c.2177C>T	p.T726M	Missense	19/20	-
16-30721208-A-T	SRCAP	c.893A>T	p.D298V	Missense	8/34	-
1-171033447-A-G	MROH9	c.2552A>G	p.D851G	Missense	22/22	-
13-38248366-T-A	TRPC4	c.1373A>T	p.K458M	Missense	5/11	-
7-19156779-C-T	TWIST1	c.166G>A	p.A56T	Missense	1/2	-
1-172357787-G-A	DNM3	c.2360G>A	p.R787Q	Missense	20/21	-
14-20181649-G-A	OR11H2	c.427C>T	p.R143C	Missense	2/2	-
15-43818836-C-T	MAP1A	c.5165C>T	p.T1722I	Missense	4/6	-
17-33269604-C-T	CCT6B	c.784G>A	p.A262T	Missense	7/14	-
13-38357242-C-A	TRPC4	c.229G>T	p.A77S	Missense	2/11	-
15-82431077-T-G	EFL1	c.3096A>C	p.E1032D	Missense	19/20	-
15-82431077-T-A	EFL1	c.3096A>T	p.E1032D	Missense	19/20	-
3-101038578-T-G	IMPG2	c.184A>C	p.K62Q	Missense	2/19	-
15-70345572-AG-CA	TLE3	c.1967_1968delCTinsTG	p.T656M	Missense	17/20	-
3-96533807-C-A	EPHA6	c.340C>A	p.L114M	Missense	1/18	-
3-183700577-C-G	ABCC5	c.810G>C	p.E270D	Missense	6/30	-
3-183700577-C-A	ABCC5	c.810G>T	p.E270D	Missense	6/30	-
17-37239770-C-G	PLXDC1	c.931G>C	p.D311H	Missense	9/14	-
18-22805598-G-A	ZNF521	c.2284C>T	p.R762C	Missense	4/8	-
2-174828523-G-C	SP3	c.245C>G	p.A82G	Missense	3/7	-
5-102326027-G-A	PAM	c.1535G>A	p.G512D	Missense	16/26	-
19-3977230-G-A	EEF2	c.2366C>T	p.P789L	Missense	14/15	-
2-174829248-G-C	SP3	c.41C>G	p.A14G	Missense	2/7	-
19-48032852-C-T	ZNF541	c.3463G>A	p.A1155T	Missense	13/17	-
19-50365048-C-G	PNKP	c.1279G>C	p.D427H	Missense	14/17	-
1-196887466-C-T	CFHR4	c.1667C>T	p.A556V	Missense	10/10	-
20-30231213-G-A	COX4I2	c.254G>A	p.R85Q	Missense	4/5	-
7-157997872-CT-GG	PTPRN2	c.370_371delAGinsCC	p.S124P	Missense	4/23	-
21-45953661-G-A	TSPEAR	c.449C>T	p.P150L	Missense	3/12	-
7-157985084-A-G	PTPRN2	c.484T>C	p.S162P	Missense	5/23	-
1-179562744-G-T	TDRD5	c.382G>T	p.A128S	Missense	3/18	-
9-21974754-C-G	CDKN2A	c.73G>C	p.V25L	Missense	1/3	-
9-21974754-C-A	CDKN2A	c.73G>T	p.V25L	Missense	1/3	-
21-45950947-CCT-ATG	TSPEAR	c.610_612delAGGinsCAT	p.R204H	Missense	4/12	-
9-34306439-T-G	KIF24	c.624A>C	p.R208S	Missense	3/13	-
9-34306439-T-A	KIF24	c.624A>T	p.R208S	Missense	3/13	-
1-149871954-G-T	BOLA1	c.342G>T	p.W114C	Missense	2/2	-
1-149871954-G-C	BOLA1	c.342G>C	p.W114C	Missense	2/2	-
1-110301957-A-C	EPS8L3	c.308T>G	p.L103R	Missense	5/19	-
X-69649461-T-G	GDPD2	c.1055T>G	p.I352S	Missense	11/16	-
19-45495607-G-A	CLPTM1	c.1672G>A	p.A558T	Missense	13/14	-
10-116735064-G-A	TRUB1	c.976G>A	p.E326K	Missense	8/8	-
X-118151504-C-G	LONRF3	c.2131C>G	p.P711A	Missense	11/11	-
1-12567122-C-G	VPS13D	c.13010C>G	p.P4337R	Missense	69/70	-
21-19775880-C-G	TMPRSS15	c.60G>C	p.M20I	Missense	1/25	-
21-19775880-C-A	TMPRSS15	c.60G>T	p.M20I	Missense	1/25	-
15-75558650-C-T	GOLGA6C	c.1052C>T	p.A351V	Missense	11/18	-
21-44838937-C-T	SIK1	c.1426G>A	p.E476K	Missense	11/14	-
1-149871802-A-G	BOLA1	c.190A>G	p.S64G	Missense	2/2	-
12-122839016-G-A	CLIP1	c.1291C>T	p.L431F	Missense	7/26	-
16-304506-G-A	FAM234A	c.94G>A	p.E32K	Missense	3/13	-
12-123950643-C-T	SNRNP35	c.556C>T	p.R186*	Nonsense	2/2	-
19-7607447-GGCT-G	PNPLA6	c.1253_1255delGCT	p.G418_L419delinsV	SpliceAcceptorDeletion	11/32	-
19-7607474-TTCG-T	PNPLA6	c.1280_1282delTCG	p.F427_D428delinsY	MultiAAMissense	11/32	-
19-7606538-GATC-G	PNPLA6	c.1136_1138delATC	p.D379_P380delinsA	MultiAAMissense	9/32	-
3-18438687-TCTTCTTGAAATG-T	SATB1	c.724_735del12	p.H242_K245del	InFrameDeletion	6/11	-
3-18436209-TGACCAATTGAGG-T	SATB1	c.940_951del12	p.P314_V317del	InFrameDeletion	7/11	-
7-29440384-G-C	CHN2	c.516G>C	p.R172S	Missense	6/13	-
7-29440384-G-T	CHN2	c.516G>T	p.R172S	Missense	6/13	-
7-29440159-G-C	CHN2	c.291G>C	p.R97S	Missense	6/13	-
7-29440159-G-T	CHN2	c.291G>T	p.R97S	Missense	6/13	-
7-4169573-C-A	SDK1	c.3973C>A	p.P1325T	Missense	27/45	-
16-89767427-G-A	SPATA2L	c.214C>T	p.R72C	Missense	2/3	-
20-62657410-G-A	PRPF6	c.2027G>A	p.R676Q	Missense	15/21	-
7-91503744-C-T	MTERF1	c.364G>A	p.A122T	Missense	3/3	-
7-138344648-C-T	SVOPL	c.431G>A	p.R144Q	Missense	6/16	-
7-141418906-G-A	WEE2	c.620G>A	p.R207H	Missense	4/12	-
3-50332828-T-C	HYAL3	c.206A>G	p.N69S	Missense	2/4	-
3-50330888-T-C	HYAL3	c.1043A>G	p.N348S	Missense	4/4	-
6-155728303-C-T	NOX3	c.1541G>A	p.W514*	Nonsense	12/14	-
6-155728302-C-T	NOX3	c.1542G>A	p.W514*	Nonsense	12/14	-
7-39990443-C-A	CDK13	c.203C>A	p.A68D	Missense	1/14	-
7-94047836-T-A	COL1A2	c.1997T>A	p.I666N	Missense	33/52	-
7-101845005-G-A	CUX1	c.2428G>A	p.V810M	Missense	18/24	-
8-3889492-A-C	CSMD1	c.545T>G	p.I182S	Missense	4/70	-
17-78320773-G-A	RNF213	c.8638G>A	p.G2880S	Missense	29/68	-
8-66989054-G-T	DNAJC5B	c.279G>T	p.Q93H	Missense	4/6	-
8-66989054-G-C	DNAJC5B	c.279G>C	p.Q93H	Missense	4/6	-
19-29699054-C-T	UQCRFS1	c.226G>A	p.V76I	Missense	2/2	-
5-178540950-C-A	ADAMTS2	c.3554G>T	p.S1185I	Missense	22/22	-
19-44792759-T-C	ZNF235	c.829A>G	p.S277G	Missense	5/5	-
11-105881346-G-T	MSANTD4	c.299C>A	p.S100Y	Missense	2/3	-
5-140755745-G-T	PCDHGA6	c.2095G>T	p.A699S	Missense	1/4	-
12-65260545-C-T	TBC1D30	c.1153C>T	p.R385*	Nonsense	10/12	-
12-116412999-C-T	MED13L	c.5708G>A	p.R1903H	Missense	25/31	-
15-67652218-AGG-CAT	IQCH	c.748_750delAGGinsCAT	p.R250H	Missense	8/21	-
1-179100590-C-T	ABL2	c.247G>A	p.D83N	Missense	3/12	-
1-233464367-T-G	MAP3K21	c.593T>G	p.L198R	Missense	1/10