Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03831.hp2 NA19003.hp1 HG03492.hp1 HG03831.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0094 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0094	3	39	0.0769	22	c.208 others(39): Show c.2086-714_2086-693dupAAAAAAAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG04199.hp1 NA18984.hp2 others(2): Show HG01981.hp1 HG04199.hp1 NA18984.hp2 NA19002.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0003 a0001c0001t0023 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0023 a0001c0003t0001 a0002c0006t0017	a0001c0001t0003g0180 a0001c0001t0023g0009 a0001c0003t0001g0202 others(2): Show a0001c0001t0003g0180 a0001c0001t0023g0009 a0001c0003t0001g0202 a0001c0003t0001g0204 a0002c0006t0017g0136	5	24	0.2083	22	c.457 others(39): Show c.457-2190_457-2169dupGTGTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189157130	A A	ATATATAG others(15): Show ATATATAGATATATCGATATATC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0015 a0001c0026t0015	a0001c0026t0015g0003 a0001c0026t0015g0003	1	246	0.0041	22	c.97+ others(39): Show c.97+22377_97+22378insGATATATCGATATATCTATATA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(15): Show AAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02723.hp1 HG02895.hp1	a0034 a0034	a0034c0043 a0034c0043	a0034c0043t0006 a0034c0043t0007 a0034c0043t0006 a0034c0043t0007	a0034c0043t0006g0056 a0034c0043t0007g0055 a0034c0043t0006g0056 a0034c0043t0007g0055	2	224	0.0089	22	c.214 others(39): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(15): Show AAAAAAAAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp2 HG01175.hp2 others(10): Show HG00597.hp2 HG01081.hp2 HG01175.hp2 HG02056.hp1 HG02451.hp1 HG02523.hp2 HG02738.hp2 HG03130.hp2 HG03710.hp1 HG03831.hp2 NA18948.hp1 NA18983.hp2 NA19064.hp2	a0002 a0007 a0015 others(4): Show a0002 a0007 a0015 a0016 a0020 a0065 a0066	a0002c0002 a0002c0020 a0002c0034 others(7): Show a0002c0002 a0002c0020 a0002c0034 a0002c0139 a0007c0081 a0015c0012 a0016c0037 a0020c0028 a0065c0129 a0066c0128	a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 a0002c0034t0002 a0002c0139t0002 a0007c0081t0001 a0015c0012t0001 a0016c0037t0002 a0020c0028t0001 a0065c0129t0006 a0066c0128t0001	a0002c0002t0001g0071 a0002c0002t0001g0357 a0002c0002t0002g0305 others(10): Show a0002c0002t0001g0071 a0002c0002t0001g0357 a0002c0002t0002g0305 a0002c0002t0002g0360 a0002c0020t0001g0118 a0002c0034t0002g0277 a0002c0139t0002g0068 a0007c0081t0001g0177 a0015c0012t0001g0240 a0016c0037t0002g0145 a0020c0028t0001g0210 a0065c0129t0006g0060 a0066c0128t0001g0353	13	235	0.0553	22	c.214 others(39): Show c.2145+268_2145+269insCTTTCTCTCTCTCTCTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCGCCC others(15): Show TCCCGCCCCTCCCCTCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0097 a0006c0011t0002g0097	1	54	0.0185	22	c.-17 others(31): Show c.-171_-170insCCCGCCCCTCCCCTCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987790	G G	GGGGTCCA others(15): Show GGGGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG02970.hp2 others(1): Show HG01255.hp2 HG02572.hp2 HG02970.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0004 a0001c0003 a0002c0002 a0003c0004	a0001c0003t0007 a0002c0002t0008 a0002c0002t0009 others(1): Show a0001c0003t0007 a0002c0002t0008 a0002c0002t0009 a0003c0004t0001	a0001c0003t0007g0109 a0002c0002t0008g0117 a0002c0002t0009g0122 others(1): Show a0001c0003t0007g0109 a0002c0002t0008g0117 a0002c0002t0009g0122 a0003c0004t0001g0064	4	122	0.0328	22	c.804 others(37): Show c.804+139_804+140insTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988187	G G	GGGGTCCA others(15): Show GGGGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0100 a0003c0004t0002g0100	1	124	0.0081	22	c.804 others(37): Show c.804+536_804+537insTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02698.hp2 HG01071.hp1 HG02698.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0250 a0002c0001t0001g0288 a0002c0001t0001g0250 a0002c0001t0001g0288	2	195	0.0103	22	c.932 others(41): Show c.9328+1358_9328+1379dupATATATATATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19000.hp2 NA19004.hp2 others(1): Show NA18941.hp1 NA19000.hp2 NA19004.hp2 NA19087.hp1	a0003 a0004 a0003 a0004	a0003c0015 a0003c0118 a0003c0122 others(1): Show a0003c0015 a0003c0118 a0003c0122 a0004c0006	a0003c0015t0002 a0003c0118t0001 a0003c0122t0001 others(1): Show a0003c0015t0002 a0003c0118t0001 a0003c0122t0001 a0004c0006t0001	a0003c0015t0002g0197 a0003c0118t0001g0079 a0003c0122t0001g0076 others(1): Show a0003c0015t0002g0197 a0003c0118t0001g0079 a0003c0122t0001g0076 a0004c0006t0001g0305	4	76	0.0526	22	c.932 others(41): Show c.9328+1332_9328+1333insCATATATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03139.hp1 NA18990.hp1 HG00642.hp1 HG03139.hp1 NA18990.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0003 a0012c0012 a0001c0001 a0004c0003 a0012c0012	a0001c0001t0002 a0004c0003t0001 a0012c0012t0003 a0001c0001t0002 a0004c0003t0001 a0012c0012t0003	a0001c0001t0002g0255 a0004c0003t0001g0031 a0012c0012t0003g0083 a0001c0001t0002g0255 a0004c0003t0001g0031 a0012c0012t0003g0083	3	26	0.1154	22	c.781 others(39): Show c.7819+912_7819+933dupTATATATATATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636918	C C	CCCCCTCC others(15): Show CCCCCTCCCCTCCCCTTCCCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp2 HG02647.hp1 NA19043.hp2	a0004 a0045 a0004 a0045	a0004c0062 a0045c0041 a0004c0062 a0045c0041	a0004c0062t0004 a0045c0041t0001 a0004c0062t0004 a0045c0041t0001	a0004c0062t0004g0216 a0045c0041t0001g0021 a0004c0062t0004g0216 a0045c0041t0001g0021	2	212	0.0094	22	c.509 others(41): Show c.5091+1162_5091+1183dupTCCCCTCCCCTTCCCCCTCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636935	C C	CCCCCTCC others(15): Show CCCCCTCCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0100 a0002c0002t0005g0100	1	204	0.0049	22	c.509 others(41): Show c.5091+1189_5091+1190insTCCCCTTCCCCTCCCCCTCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637029	T T	TCCCCTTC others(15): Show TCCCCTTCCTCTCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0003 a0014c0011t0003	a0014c0011t0003g0179 a0014c0011t0003g0179	1	262	0.0038	22	c.509 others(41): Show c.5091+1276_5091+1297dupCTCTCCCTCCCCCTCCCCCTTC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99633643	G G	GTGGTGTG others(15): Show GTGGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	112	0.0089	22	c.-51 others(33): Show c.-5150_-5149insTGGTGTGTGTGTGTGTGTGTGT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4950		chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(15): Show TATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	198	0.0051	22	c.-12 others(43): Show c.-129+30483_-129+30484insTATATATATATATATATAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(15): Show TATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	198	0.0051	22	c.-12 others(43): Show c.-129+30483_-129+30484insTATATATATATATATATATAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp2 HG02622.hp2 others(2): Show HG00741.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0008 a0002c0018 a0002c0004 a0002c0008 a0002c0018	a0002c0004t0004 a0002c0004t0011 a0002c0008t0005 others(1): Show a0002c0004t0004 a0002c0004t0011 a0002c0008t0005 a0002c0018t0006	a0002c0004t0004g0248 a0002c0004t0011g0327 a0002c0008t0005g0333 others(2): Show a0002c0004t0004g0248 a0002c0004t0011g0327 a0002c0008t0005g0333 a0002c0008t0005g0335 a0002c0018t0006g0340	5	165	0.0303	22	c.250 others(41): Show c.2504-1437_2504-1416dupTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0126 a0001c0008t0001g0126	1	129	0.0078	22	c.-11 others(33): Show c.-1118_-1117insAAAATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 NA21309.hp1 HG02896.hp2 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0076 a0002c0001t0001g0077	2	130	0.0154	22	c.-11 others(33): Show c.-1118_-1117insAAAAAAAATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATTTTT others(15): Show ATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG02976.hp1 HG03195.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0007 a0001c0005 a0007c0007	a0001c0005t0001 a0007c0007t0001 a0001c0005t0001 a0007c0007t0001	a0001c0005t0001g0108 a0007c0007t0001g0025 a0001c0005t0001g0108 a0007c0007t0001g0025	2	130	0.0154	22	c.-11 others(33): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0093 a0001c0005t0001g0093	1	129	0.0078	22	c.-11 others(33): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	241	0.0041	22	c.148 others(39): Show c.148+2201_148+2202insAAAAAAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01433.hp2 others(4): Show HG00408.hp1 HG00735.hp2 HG01433.hp2 HG02071.hp2 HG04115.hp2 NA18948.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0132 a0001c0001t0002g0133 others(4): Show a0001c0001t0002g0010 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0153 a0001c0001t0002g0188	7	247	0.0283	22	c.148 others(39): Show c.148+2201_148+2202insAAAAAATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0022 a0002c0004t0002g0022	1	241	0.0041	22	c.148 others(39): Show c.148+2201_148+2202insAAAATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(15): Show GAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02622.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0008 a0001c0001t0003g0080 a0001c0001t0003g0081	4	147	0.0272	22	c.292 others(37): Show c.292+378_292+379insGAGAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19012.hp1 NA18959.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0060 a0001c0001t0003g0007 a0001c0001t0003g0060	2	145	0.0138	22	c.292 others(37): Show c.292+378_292+379insGAGAGAGAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(15): Show GATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 NA18945.hp2 HG03654.hp2 NA18945.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0003 a0003c0002t0107 a0001c0003t0003 a0003c0002t0107	a0001c0003t0003g0125 a0003c0002t0107g0110 a0001c0003t0003g0125 a0003c0002t0107g0110	2	179	0.0112	22	c.78 others(33): Show c.7837_*7838insATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	319331	A A	AATATATA others(15): Show AATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0046 a0002c0001t0046	a0002c0001t0046g0191 a0002c0001t0046g0191	1	343	0.0029	22	c.71 others(31): Show c.713_*714insATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	713		chr18	TogoVar
COLEC12_chr18_311737_505701	477490	A A	ATGTTACC others(15): Show ATGTTACCGTCTTTAGAAGACGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02622.hp1 others(4): Show HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp1 HG02922.hp1 HG03486.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0005 a0002c0001 others(1): Show a0001c0004 a0001c0005 a0002c0001 a0003c0002	a0001c0004t0161 a0001c0005t0056 a0001c0005t0210 others(4): Show a0001c0004t0161 a0001c0005t0056 a0001c0005t0210 a0002c0001t0065 a0002c0001t0205 a0003c0002t0035 a0003c0002t0162	a0001c0004t0161g0117 a0001c0005t0056g0356 a0001c0005t0210g0354 others(4): Show a0001c0004t0161g0117 a0001c0005t0056g0356 a0001c0005t0210g0354 a0002c0001t0065g0116 a0002c0001t0205g0258 a0003c0002t0035g0012 a0003c0002t0162g0119	7	364	0.0192	22	c.58+ others(37): Show c.58+3216_58+3217insACGTCTTCTAAAGACGGTAACA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp2 HG02886.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0236 a0001c0001t0009g0227 a0001c0001t0001g0236 a0001c0001t0009g0227	2	324	0.0062	22	c.374 others(37): Show c.374+605_374+606insCTCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02738.hp2 NA19011.hp1 HG02523.hp1 HG02738.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0305 a0001c0001t0007g0026 a0001c0001t0007g0058 a0001c0001t0001g0305 a0001c0001t0007g0026 a0001c0001t0007g0058	3	229	0.0131	22	c.374 others(37): Show c.374+576_374+597dupCTCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	158	0.0063	22	c.-39 others(31): Show c.-398_-397insACACACACACACACACACACAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02809.hp2 NA19030.hp1 HG00741.hp1 HG02809.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0323 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0001t0001g0323 a0001c0005t0001g0105 a0001c0005t0001g0106	3	103	0.0291	22	c.510 others(39): Show c.510+6057_510+6078dupGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02129.hp2 HG02280.hp2 others(18): Show HG01884.hp1 HG02129.hp2 HG02280.hp2 HG02451.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03942.hp1 HG06807.hp2 NA18982.hp2 NA18986.hp1 NA19000.hp2 NA19001.hp2 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(18): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0195 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0329 a0002c0003t0001g0023 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0039	21	175	0.1200	22	c.510 others(41): Show c.510+78324_510+78345dupGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01123.hp1 others(15): Show HG00280.hp1 HG00423.hp1 HG01123.hp1 HG01361.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02109.hp2 HG02738.hp2 HG03239.hp2 NA18948.hp1 NA18961.hp2 NA18963.hp1 NA18971.hp1 NA18988.hp2 NA19006.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0341 a0001c0002t0001g0001 a0001c0002t0001g0007 others(13): Show a0001c0001t0001g0341 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0098 a0001c0002t0001g0107 a0001c0002t0001g0118 a0001c0002t0001g0133 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0170 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0186 a0001c0002t0006g0143	18	216	0.0833	22	c.510 others(41): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	61920965	G G	GTATATAT others(15): Show GTATATATATATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02897.hp2 others(7): Show HG02109.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0257 a0001c0001t0002g0253 a0001c0001t0002g0254 others(7): Show a0001c0001t0001g0257 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0003g0261	10	111	0.0901	22	c.180 others(41): Show c.180+15120_180+15121insGTGTGTATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02451.hp2 NA19060.hp2 others(2): Show HG01928.hp1 HG02451.hp2 NA19060.hp2 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0166	5	28	0.1786	22	c.462 others(41): Show c.462+62895_462+62916dupATATATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02895.hp1 others(5): Show HG02055.hp1 HG02257.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0125 a0001c0001t0001g0236 a0001c0001t0003g0039 others(5): Show a0001c0001t0001g0125 a0001c0001t0001g0236 a0001c0001t0003g0039 a0001c0001t0003g0087 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0276	8	112	0.0714	22	c.463 others(41): Show c.463-40010_463-40009insATATATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32705312	G G	GTATATAT others(15): Show GTATATATATACACACATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02630.hp1 others(8): Show HG01109.hp2 HG02280.hp1 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0114 a0001c0001t0003g0008 a0001c0001t0003g0286 others(6): Show a0001c0001t0001g0114 a0001c0001t0003g0008 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0358 a0001c0001t0004g0024 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0006g0125	11	398	0.0276	22	c.337 others(37): Show c.337-409_337-408insTATATATGTGTGTATATATATA	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	5/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32705358	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	348	0.0029	22	c.337 others(37): Show c.337-455_337-454insTATATATATATATATATATATA	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	5/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447372	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18987.hp2 HG03834.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	52	0.0385	22	c.42 others(33): Show c.4272_*4273insGTGTGTGTGTGTGTGTGTGTGT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3414		chr4	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01346.hp2 HG01515.hp1 others(13): Show HG01070.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG02015.hp2 HG02074.hp2 HG02135.hp1 HG03669.hp1 HG03669.hp2 NA18941.hp2 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA19002.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0024 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0002g0001 a0001c0001t0002g0035	16	55	0.2909	22	c.44 others(33): Show c.4473_*4494dupCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18786763	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp1 others(3): Show HG01069.hp1 HG01071.hp1 HG01074.hp1 HG02165.hp2 HG02630.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0010 a0001c0006t0001g0146 a0001c0001t0001g0010 a0001c0006t0001g0146	6	93	0.0645	22	c.113 others(39): Show c.1136-135_1136-114dupAAAAAAAAAAAAAAAAAAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	10/18			chr19	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(15): Show CTTTTTCTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02273.hp1 HG02622.hp1 others(10): Show HG02056.hp1 HG02273.hp1 HG02622.hp1 HG02886.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 NA18975.hp2 NA18997.hp1 NA19060.hp1 NA19080.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142	13	229	0.0568	22	c.976 others(37): Show c.976-215_976-214insAAGAAAGAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18964.hp1 NA18966.hp2 others(1): Show NA18945.hp2 NA18964.hp1 NA18966.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	82	0.0488	22	c.13 others(33): Show c.1332_*1333insAAAAAAAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG02056.hp2 others(14): Show HG00609.hp2 HG00738.hp2 HG02056.hp2 HG02074.hp1 HG02630.hp1 HG02647.hp2 HG04184.hp1 HG04204.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18965.hp1 NA18974.hp2 NA18980.hp2 NA18986.hp1 NA19030.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0003g0300 a0002c0003t0001g0265 a0002c0003t0001g0266	17	169	0.1006	22	c.213 others(41): Show c.2134-4220_2134-4199dupATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(15): Show CCACACACACACACACAAACACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0275 a0001c0001t0005g0275	1	9	0.1111	22	c.213 others(41): Show c.2134-8528_2134-8527insTGTGTTTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(15): Show CCACACACACACACACACAAACA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	9	0.1111	22	c.213 others(41): Show c.2134-8528_2134-8527insTGTTTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01256.hp2 others(14): Show HG00597.hp1 HG00639.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG02056.hp1 HG03834.hp1 HG04228.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18979.hp2 NA19003.hp1 NA19060.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 others(14): Show a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0253	17	25	0.6800	22	c.213 others(41): Show c.2134-8549_2134-8528dupTGTGTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar

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