Table 1.

Coding variants of ACE2 and TMPRSS2 in Japanese lung cancer patients and racial comparisons of AFs.

Gene	Position	dbSNP rs#	Amino acid change	CDS	Japanese lung cancer patients (LC-SCRUM-Asia)						Genome database (freq.)
					Zygosity				Total (N = 350)		Genome database (freq.)
					Hetero		Homo		Total (N = 350)		ToMMo (JPN)	GnomAD						TOPMed	ExAC
					N	freq.	N	freq.	N	freq.		AFR	AMR	ASJ	EAS	NFE	Whole	TOPMed	ExAC
ACE2	chrX: 15618865	-	p.E57G	c.170A > G	1	0.0029	-	-	1	0.0029	-	-	-	-	-	-	-	-	-
	chrX: 15610348	rs2285666	Intron Variant	c.439 + 4G > A	51	0.1457	152	0.4343	203	0.5800	0.4973	0.2204	0.3692	0.2590	0.5281	0.1991	0.2324	0.2503	0.1770
	chrX: 15609946	-	p.Y158C	c.473A > G	1	0.0029	-	-	1	0.0029	-	-	-	-	-	-	-	-	-
	chrX: 15603621	-	p.V293F	c.877 G > T	1	0.0029	-	-	1	0.0029	-	-	-	-	-	-	-	-	-
	chrX: 15596236	-	p.S425A	c.1273 T > G	-	-	1	0.0029	1	0.0029	-	-	-	-	-	-	-	-	-
	chrX: 15593829	rs191860450	p.I468V	c.1402A > G	-	-	1	0.0029	1	0.0029	0.0035	0.0000	0.0000	0.0000	0.0112	0.0000	0.0006	0.0010	0.0007
	chrX: 15589926	rs774469453	splice region variant	c.1665-7delT	-	-	-	-	not detected		0.0159	0.0009	0.0211	0.0000	0.0010	0.0006	0.0014	0.0062	0.0050
	chrX: 15589842	-	p.V581A	c.1742 T > C	1	0.0029	-	-	1	0.0029	-	-	-	-	-	-	-	-	-
	chrX: 15582333	rs769062069	p.R708Q	c.2123 G > A	-	-	1	0.0029	1	0.0029	-	-	-	-	-	-	0.0000	-	0.0000
	chrX: 15582298	rs41303171	p.N720D	c.2158A > G	-	-	-	-	not detected		-	0.0032	0.0043	0.0155	0.0000	0.0247	0.0153	0.0140	0.0165
	chrX: 15582250	-	p.Q736K	c.2206C > A	1	0.0029	-	-	1	0.0029	-	-	-	-	-	-	-	-	-

Gene	Position	dbSNP rs#	Amino acid change	CDS	Japanese lung cancer patients (LC-SCRUM-Asia)						Genome database
					Zygosity				Total (N = 350)		freq.
					Hetero		Homo		Total (N = 350)		ToMMo (JPN)	GnomAD						TOPMed	ExAC
					N	freq.	N	freq.	N	freq.	ToMMo (JPN)	AFR	AMR	ASJ	EAS	NFE	Whole	TOPMed	ExAC
TMPRSS2	chr21:42879909	rs75603675	p.G8V	c.23 G > T	3	0.0086	-	-	3	0.0086	0.0031	0.3279	0.2845	0.3681	0.0141	0.4169	0.3642	0.3516	0.3575
	chr21:42866439	rs61735791	p.A65T	c.193 G > A	4	0.0114	-	-	4	0.0114	0.0073	0.0010	0.0007	0.0003	0.0003	0.0029	0.0017	0.0020	0.0016
	chr21:42866388	rs201679623	p.Y82D	c.244 T > G	2	0.0057	-	-	2	0.0057	0.0010	0.0000	0.0000	0.0000	0.0061	0.0000	0.0002	0.0006	0.0005
	chr21:42866384	rs1016773134	p.P83L	c.248C > T	1	0.0029	-	-	1	0.0029	-	0.0000	0.0001	0.0000	0.0000	0.0000	0.0000	0.0000	-
	chr21:42866331	rs574582815	p.V101l	c.301 G > A	1	0.0029	-	-	1	0.0029	-	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0001
	chr21:42852497	rs12329760	p.V197M	c.589 G > A	165	0.4714	49	0.1400	214	0.6114	0.3837	0.2884	0.1722	0.1007	0.4172	0.2474	0.2801	0.2470	0.2502
	chr21:42842591	rs61735794	p.G422G	c.1266 G > A	-	-	-	-	not detected		-	0.0057	0.0189	0.0196	0.0000	0.0305	0.0203	-	0.0206

Genetic variants are listed if they were detected in a whole-exome sequence or if the AF was more than 0.01 in at least one of the databases.

Position numbers indicate distance from 5′ end of the original exon 1.

ToMMo: The Tohoku Medical Megabank Project, GnomAD: The Genome Aggregation Database, TOPMed: Trans-Omics for Precision Medicine, ExAC: The Exome Aggregation Consortium.

JPN: Japanese, AFR: African-American/African, AMR: Latino, ASJ: Ashkenazi Jewish, EAS: East Asian, NFE: Non-Finnish European.

141 patients have no variant in ACE2 and 127 patients have no vatiant in TMPRSS2. Two patients have two variants in ACE2 and five patients have two variants in TMPRSS2.