Table 2.

Variants of interest

#	Chr	Locationa	Rs number	Geneb	Ref	Var	MAF Ac	MAF Ud	MAF A/U	ExAC database allele frequency	ClinVar database	CADD score
1	1	1049746	rs199876002	AGRN	G	C	0.286	0.219	1.306	0.00358	A	14.78
2	1	92075441	rs139959666	SETSIP	T	C	0.429	0.188	2.286	-	NR	0.015
3	1	192810219	rs140811638	RGS2	C	T	0.286	0.141	2.032	0.0000498	NR	24.4
4	1	207645313	rs115047031	CR1L	T	G	0.286	0.103	2.776	0.00352	NR	15.96
5	3	127619115	rs149699620	MCM2	C	T	0.286	0.088	3.238	0.000746	NR	7.279
6	5	142314552	rs148983803	SPRY4	C	T	0.357	0.250	1.429	0.00253	A	25.7
7	6	7580645	rs113902911	DSP	G	T	0.429	0.172	2.494	0.00175	A	17.66
8	6	89950854	rs34335140	BACH2	C	T	0.214	0.203	1.055	0.00197	A	17.98
9	6	160079596	rs8191904	IGF2R	G	T	0.214	0.125	1.714	0.00324	A	9.852
10	7	74782983	rs782555266	NCF1	A	G	0.214	0.063	3.429	-	NR	7.537
11	7	129205670	rs111694017	SMO	G	A/A	0.429	0.206	2.082	0.00741	A	18.27
12	8	60795119	rs141947938	CHD7	G	A	0.286	0.109	2.612	0.00128	A	24.4
13	8	60853203	rs61753399	CHD7	G	A	0.286	0.118	2.429	0.00128	A	12.52
14	8	134590348	rs138033806	ZFAT	C	T	0.214	0.047	4.571	0.00320	NR	20.6
15	9	5055741	rs149683525	JAK2	A	G	0.357	0.203	1.758	0.000369	U	16.13
16	9	137244204	rs76517216	FAM166A	C	T	0.357	0.221	1.619	0.00235	NR	23.8
17	9	137813149	rs138283222	EHMT1	G	A	0.286	0.188	1.524	0.000250	A	0.042
18	10	18551939	rs139589125	NSUN6	G	C	0.214	0.094	2.286	0.0000330	NR	26.6
19	10	19146262	rs111530988	MALRD1	T	G	0.214	0.103	2.082	-	NR	2.860
20	10	77977594	rs147168447	POLR3A	T	C	0.286	0.141	2.032	0.000140	U	22.0
21	11	1241237	rs56079125	MUC5B	G	A	0.500	0.221	2.267	0.00145	NR	0.008
22	11	17610849	rs376684690	OTOG	C	G	0.286	0.172	1.662	0.000833	A	13.27
23	11	17631882	rs142799217	OTOG	G	A	0.286	0.206	1.388	0.000309	A	28.3
24	11	47259902	rs41481445	NR1H3	G	T	0.286	0.188	1.524	0.00235	A	1.067
25	11	128489374	rs79963544	ETS1	C	T	0.286	0.221	1.295	0.00231	A	21.4
26	12	80708548	rs141278987	MYF6	A	C	0.286	0.118	2.429	0.000685	A	27.7
27	13	25097753	rs757885062	PABPC3	C	T	0.214	0.074	2.914	0.0000247	NR	10.23
28	13	28311998	rs145693340	FLT1	G	T	0.214	0.076	2.829	0.000173	NR	24.1
29	13	32239736	rs193120945	FRY	A	G	0.214	0.088	2.429	0.00228	A	23.1
30	17	11894431	rs78870819	DNAH9	C	T	0.214	0.063	3.429	0.000981	NR	23.4
31	17	39526122	rs56362165	CDK12	T	A	0.214	0.162	1.325	0.00220	U	13.64
32	17	63896505	rs1130686	CSH1/CSH2	G	C	0.286	0.266	1.076	0.000512	NR	0.026
33	17	75625192	Unknown	MYO15B	G	C	0.214	0.088	2.429	-	U	26.5
34	17	78223530	rs17880183	BIRC5	C	T	0.286	0.203	1.407	0.00208	NR	0.354
35	22	15528887	rs141845380	OR11H12	C	T	0.214	0.156	1.371	0.000371	NR	4.512
36	X	37795981	Unknown	CYBB	A	T	0.222	0.204	1.089	-	U	22.6

^aLocations reported are according to human assembly GRCh38/hg38 build

^bTwo additional variants were identified (3:20558901, ELK4 and 3:113376110, USF3). Both consisted of deletions; however, the used methods were not appropriate to evaluate deletions and duplications

^cAffected

^dUnaffected

NR, not reported; A, benign/likely benign; U, uncertain significance