Table 4.

Variants common (MAF>=5%) in either the Japanese or European/American population but rare (MAF<=1%) in the other. The variant with the highest common MAF, bolded, was identified as a variant of interest.

Gene	rsID	Chr.	Position	HGVS. p	Japanese MAF	European/American MAF	Consequence	CADD Score
COL9A2	rs12077871	1	40773150	p.Gln326*	0.1138	0.0026	stop gained	38
OTOA	rs200988634	16	21747639	p.Glu801*	0.2787	0.0025	stop gained	36
COL5A1	rs2229817	9	137726950	p.Thr1757Met	0.069	0.0018	missense variant	26.6
OTOGL	rs79711087	12	80655832	p.His658Leu	0.056	0.0001	missense variant	23.5
OTOG	rs7130190	11	17580175	p.Thr375Ser	0.0051	0.142	missense variant	23.4
ANXA2	rs17845226	15	60653205	p.Val116Leu	0.0001	0.1289	missense variant	22.2
COL6A5	rs1353613	3	130114082	p.Ile1114Met	0.4133	0.01	missense variant	21.1
DSP	rs28763961	6	7569480	p.Tyr494Phe	0.0957	0.0025	missense variant	19.46
OTOG	rs116947228	11	17618546	p.Arg1237His	0.1004	0.0023	missense variant	18.45
EDFHD1	rs112941683	2	233498506	p.Ala31Val	0.005	0.0505	missense variant	15.7
IQGAL1	rs2301831	15	91017718	p.Ile859Ile	0.1407	0.0032	splice region variant; synonymous variant	14.91
ACAN	rs74505897	15	89401379	p.Leu1855Phe	0.0645	0.0016	missense variant	14.58
TMPRSS9	rs117767265	19	2405456	p.Ala252Val	0.057	0.0023	missense variant	13.42

Variants obtained from Japanese Multi Omics Reference Panel (jMorp) (Tadaka et al. 2017) release 202001 and ranked by CADD v1.4 score; only those with CADD score >=12.37 shown (Kircher et al. 2014). Genomic coordinates are per the GRCh37/hg19 genome assembly. Japanese MAFs are ToMMo 4.7KJPN Allele Frequency Panel v20190826 MAFs; European/American MAFs are gnomAD 2.1 non-Finnish European MAFs.