Supplementary Table S9: Detailed information of top disease terms associated with non-synonymous Korean only SNVs (SNV-2/ns to SNV-10/ns)
SNV-2/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Adhesion	75	C=647;O=75;E=27.44;R=2.73;rawP=4.67e-15;adjP=3.50e-12
	2	Congenital Abnormalities	62	C=643;O=62;E=27.27;R=2.27;rawP=2.15e-09;adjP=8.06e-07
	3	Deglutition Disorders	12	C=33;O=12;E=1.40;R=8.57;rawP=5.05e-09;adjP=1.26e-06
	4	Intestinal Disease terms	39	C=331;O=39;E=14.04;R=2.78;rawP=1.04e-08;adjP=1.95e-06
	5	Urologic Disease terms	35	C=285;O=35;E=12.09;R=2.90;rawP=2.04e-08;adjP=3.06e-06
	6	Subarachnoid Hemorrhage	19	C=104;O=19;E=4.41;R=4.31;rawP=7.31e-08;adjP=6.85e-06
	7	Eye Disease terms	40	C=368;O=40;E=15.61;R=2.56;rawP=6.40e-08;adjP=6.85e-06
	8	Glioma	28	C=207;O=28;E=8.78;R=3.19;rawP=6.67e-08;adjP=6.85e-06
	9	Nelson syndrome	59	C=673;O=59;E=28.54;R=2.07;rawP=1.51e-07;adjP=1.13e-05
	10	Vision Disorders	19	C=108;O=19;E=4.58;R=4.15;rawP=1.37e-07;adjP=1.13e-05
SNV-3/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	10	C=33;O=10;E=0.79;R=12.66;rawP=3.31e-09;adjP=1.33e-06
	2	Adhesion	42	C=647;O=42;E=15.48;R=2.71;rawP=7.93e-09;adjP=1.59e-06
	3	Nelson syndrome	39	C=673;O=39;E=16.10;R=2.42;rawP=5.02e-07;adjP=4.41e-05
	4	Intestinal Disease terms	25	C=331;O=25;E=7.92;R=3.16;rawP=5.49e-07;adjP=4.41e-05
	5	Gastroenteritis	19	C=200;O=19;E=4.79;R=3.97;rawP=4.10e-07;adjP=4.41e-05
	6	Colitis	16	C=153;O=16;E=3.66;R=4.37;rawP=9.26e-07;adjP=6.20e-05
	7	Barrett Esophagus	8	C=42;O=8;E=1.01;R=7.96;rawP=6.00e-06;adjP=0.0002
	8	Colonic Disease terms	21	C=279;O=21;E=6.68;R=3.15;rawP=4.56e-06;adjP=0.0002
	9	Neoplastic Processes	27	C=411;O=27;E=9.83;R=2.75;rawP=2.89e-06;adjP=0.0002
	10	Gastrointestinal Disease terms	27	C=413;O=27;E=9.88;R=2.73;rawP=3.17e-06;adjP=0.0002
SNV-4/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.58;R=15.40;rawP=4.32e-09;adjP=1.15e-06
	2	Colitis	13	C=153;O=13;E=2.71;R=4.80;rawP=3.78e-06;adjP=0.0004
	3	Nelson syndrome	30	C=673;O=30;E=11.92;R=2.52;rawP=4.96e-06;adjP=0.0004
	4	Gastroenteritis	14	C=200;O=14;E=3.54;R=3.95;rawP=1.52e-05;adjP=0.0010
	5	Intestinal Disease terms	18	C=331;O=18;E=5.86;R=3.07;rawP=3.13e-05;adjP=0.0017
	6	Gastroesophageal Reflux	8	C=72;O=8;E=1.28;R=6.27;rawP=4.12e-05;adjP=0.0018
	7	Inversion (Genetics)	14	C=233;O=14;E=4.13;R=3.39;rawP=8.11e-05;adjP=0.0022
	8	Adhesion	26	C=647;O=26;E=11.46;R=2.27;rawP=0.0001;adjP=0.0022
	9	Dyslexia	7	C=60;O=7;E=1.06;R=6.59;rawP=9.11e-05;adjP=0.0022
	10	Cholangitis, Sclerosing	5	C=28;O=5;E=0.50;R=10.08;rawP=0.0001;adjP=0.0022
SNV-5/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.45;R=20.14;rawP=4.16e-10;adjP=6.95e-08
	2	Gastroesophageal Reflux	8	C=72;O=8;E=0.97;R=8.21;rawP=6.03e-06;adjP=0.0005
	3	Inversion (Genetics)	13	C=233;O=13;E=3.16;R=4.12;rawP=2.05e-05;adjP=0.0011
	4	Chromosome Breakage	10	C=174;O=10;E=2.36;R=4.24;rawP=0.0001;adjP=0.0042
	5	Colitis	9	C=153;O=9;E=2.07;R=4.34;rawP=0.0003;adjP=0.0100
	6	Nelson syndrome	20	C=673;O=20;E=9.11;R=2.19;rawP=0.0010;adjP=0.0278
	7	Lung Disease terms	13	C=354;O=13;E=4.79;R=2.71;rawP=0.0012;adjP=0.0286
	8	Chromosome Aberrations	13	C=371;O=13;E=5.02;R=2.59;rawP=0.0018;adjP=0.0317
	9	Gastroenteritis	9	C=200;O=9;E=2.71;R=3.32;rawP=0.0017;adjP=0.0317
	10	Respiratory Tract Disease terms	13	C=373;O=13;E=5.05;R=2.57;rawP=0.0019;adjP=0.0317
SNV-6/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.39;R=23.15;rawP=1.22e-10;adjP=1.56e-08
	2	Gastroesophageal Reflux	8	C=72;O=8;E=0.85;R=9.43;rawP=2.17e-06;adjP=0.0001
	3	Chromosome Breakage	10	C=174;O=10;E=2.05;R=4.88;rawP=4.54e-05;adjP=0.0019
	4	Inversion (Genetics)	11	C=233;O=11;E=2.74;R=4.01;rawP=0.0001;adjP=0.0032
	5	Lung Disease terms	13	C=354;O=13;E=4.17;R=3.12;rawP=0.0003;adjP=0.0077
	6	Nelson syndrome	19	C=673;O=19;E=7.93;R=2.40;rawP=0.0005;adjP=0.0091
	7	Colitis	8	C=153;O=8;E=1.80;R=4.44;rawP=0.0005;adjP=0.0091
	8	Gastroenteritis	9	C=200;O=9;E=2.36;R=3.82;rawP=0.0007;adjP=0.0112
	9	Colorectal Neoplasms	10	C=260;O=10;E=3.06;R=3.27;rawP=0.0011;adjP=0.0156
	10	Colitis, Ulcerative	7	C=139;O=7;E=1.64;R=4.28;rawP=0.0014;adjP=0.0179
SNV-7/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.34;R=26.85;rawP=3.29e-11;adjP=3.52e-09
	2	Gastroesophageal Reflux	8	C=72;O=8;E=0.73;R=10.94;rawP=7.20e-07;adjP=3.85e-05
	3	Chromosome Breakage	10	C=174;O=10;E=1.77;R=5.66;rawP=1.29e-05;adjP=0.0005
	4	Inversion (Genetics)	11	C=233;O=11;E=2.37;R=4.65;rawP=3.03e-05;adjP=0.0008
	5	Gastroenteritis	9	C=200;O=9;E=2.03;R=4.43;rawP=0.0002;adjP=0.0036
	6	Colitis	8	C=153;O=8;E=1.55;R=5.15;rawP=0.0002;adjP=0.0036
	7	Colitis, Ulcerative	7	C=139;O=7;E=1.41;R=4.96;rawP=0.0006;adjP=0.0080
	8	Nelson syndrome	17	C=673;O=17;E=6.84;R=2.49;rawP=0.0006;adjP=0.0080
	9	Pancreatic Disease terms	7	C=147;O=7;E=1.49;R=4.69;rawP=0.0008;adjP=0.0095
	10	Monosomy	9	C=247;O=9;E=2.51;R=3.59;rawP=0.0010;adjP=0.0107
SNV-8/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.31;R=29.04;rawP=1.64e-11;adjP=1.53e-09
	2	Gastroesophageal Reflux	8	C=72;O=8;E=0.68;R=11.83;rawP=4.00e-07;adjP=1.86e-05
	3	Chromosome Breakage	9	C=174;O=9;E=1.63;R=5.51;rawP=4.35e-05;adjP=0.0013
	4	Colitis	8	C=153;O=8;E=1.44;R=5.57;rawP=0.0001;adjP=0.0023
	5	Inversion (Genetics)	9	C=233;O=9;E=2.19;R=4.11;rawP=0.0004;adjP=0.0062
	6	Colitis, Ulcerative	7	C=139;O=7;E=1.31;R=5.36;rawP=0.0004;adjP=0.0062
	7	Monosomy	9	C=247;O=9;E=2.32;R=3.88;rawP=0.0006;adjP=0.0065
	8	Pancreatic Disease terms	7	C=147;O=7;E=1.38;R=5.07;rawP=0.0005;adjP=0.0065
	9	Aneuploidy	9	C=250;O=9;E=2.35;R=3.83;rawP=0.0007;adjP=0.0065
	10	Gastroenteritis	8	C=200;O=8;E=1.88;R=4.26;rawP=0.0007;adjP=0.0065
SNV-9/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.29;R=31.03;rawP=9.10e-12;adjP=7.73e-10
	2	Gastroesophageal Reflux	8	C=72;O=8;E=0.63;R=12.64;rawP=2.42e-07;adjP=1.03e-05
	3	Colitis	8	C=153;O=8;E=1.34;R=5.95;rawP=6.76e-05;adjP=0.0019
	4	Colitis, Ulcerative	7	C=139;O=7;E=1.22;R=5.73;rawP=0.0002;adjP=0.0034
	5	Chromosome Breakage	8	C=174;O=8;E=1.53;R=5.23;rawP=0.0002;adjP=0.0034
	6	Gastroenteritis	8	C=200;O=8;E=1.76;R=4.55;rawP=0.0004;adjP=0.0038
	7	Pancreatic Disease terms	7	C=147;O=7;E=1.29;R=5.42;rawP=0.0003;adjP=0.0038
	8	Monosomy	9	C=247;O=9;E=2.17;R=4.15;rawP=0.0004;adjP=0.0038
	9	Aneuploidy	9	C=250;O=9;E=2.20;R=4.10;rawP=0.0004;adjP=0.0038
	10	Nelson syndrome	15	C=673;O=15;E=5.91;R=2.54;rawP=0.0010;adjP=0.0085
SNV-10/ns	Order	Disease term	#Gene	Statistics (C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )
	1	Deglutition Disorders	9	C=33;O=9;E=0.27;R=33.04;rawP=5.21e-12;adjP=4.43e-10
	2	Gastroesophageal Reflux	8	C=72;O=8;E=0.59;R=13.46;rawP=1.51e-07;adjP=6.42e-06
	3	Colitis	8	C=153;O=8;E=1.26;R=6.33;rawP=4.36e-05;adjP=0.0012
	4	Chromosome Breakage	8	C=174;O=8;E=1.44;R=5.57;rawP=0.0001;adjP=0.0021
	5	Colitis, Ulcerative	7	C=139;O=7;E=1.15;R=6.10;rawP=0.0002;adjP=0.0024
	6	Pancreatic Disease terms	7	C=147;O=7;E=1.21;R=5.77;rawP=0.0002;adjP=0.0024
	7	Monosomy	9	C=247;O=9;E=2.04;R=4.41;rawP=0.0002;adjP=0.0024
	8	Aneuploidy	9	C=250;O=9;E=2.06;R=4.36;rawP=0.0003;adjP=0.0028
	9	Gastroenteritis	8	C=200;O=8;E=1.65;R=4.85;rawP=0.0003;adjP=0.0028
	10	Nelson syndrome	15	C=673;O=15;E=5.56;R=2.70;rawP=0.0005;adjP=0.0043