Table 3.

The identification of runs of homozygosity between the mother and father of the index case

CHR	SNP1	SNP2	POS1	POS2	KB	NSNP	DENSITY (KB/NSNP)	PHOM	PHET
1	rs6077208	rs773530539	21798208	23743698	1945.49	116	16.771	0.603	0.017
2	rs558321757	rs23253874	25050977	33764286	8713.30	236	36.920	0.674	0.038
2	rs773745425	rs83697568	178415694	180846743	2431.04	123	19.764	0.789	0.008
5	rs107007917	rs70038334	90719129	94953379	4234.25	151	28.041	0.314	0.508
6	rs7451498	rs9384046	148981394	153173999	4192.60	163	25.721	0.662	0.131
14	rs10134181	rs898927	92280037	98263147	5983.11	244	24.520	0.297	0.637
16	rs4785195	rs1004299	49932806	54343840	4411.03	129	34.194	0.676	0.180
16	rs990813	rs12596363	59070616	64124789	5054.17	117	43.198	0.088	0.124

Bold font denotes ROH in which TTC37 is localized. All calculations were done using the VCF file obtained for the WES. Stringent quality control parameters were implemented before identity by decent (IBD) and ROH were calculated. Note that because of missing calls, PHOM + PHET < 1

SNP1 start of the SNP segment, SNP2 end of the SNP segment, POS1 start of the physical position of the segment (base pair), POS2 end of the physical position of the segment (base pair), NSNP number of SNPs in the segment, KB physical length of the segment, PHOM proportion of sites homozygous, PHET proportion of sites heterozygous