Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
COL4A1_chr13_110143963_110312157	110253096	C C	CATATACA others(26): Show CATATACATATAACTATATGTACGTATGTATTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03130.hp2 HG03579.hp2 others(1): Show HG01192.hp1 HG03130.hp2 HG03579.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0100 a0002c0104 a0002c0002 a0002c0100 a0002c0104	a0002c0002t0001 a0002c0100t0001 a0002c0104t0001 a0002c0002t0001 a0002c0100t0001 a0002c0104t0001	a0002c0002t0001g0173 a0002c0002t0001g0183 a0002c0100t0001g0175 others(1): Show a0002c0002t0001g0173 a0002c0002t0001g0183 a0002c0100t0001g0175 a0002c0104t0001g0176	4	208	0.0192	33	c.85- others(50): Show c.85-10395_85-10363dupATAATACATACGTACATATAGTTATATG TATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253138	A A	ATAACTAT others(26): Show ATAACTATATGTACGTATGTATTATATATACATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19012.hp1 HG01074.hp1 NA19012.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0077 a0004c0005t0001g0135 a0004c0005t0001g0077 a0004c0005t0001g0135	2	181	0.0110	33	c.85- others(50): Show c.85-10405_85-10404insCATGTATATATAATACATACGTACATAT AGTTA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253507	C C	CGTATTAC others(26): Show CGTATTACATATACATATAATTATAAGTATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0024 a0001c0013t0001g0024	1	338	0.0030	33	c.85- others(50): Show c.85-10806_85-10774dupATATATACTTATAATTATATGTATATGT AATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253532	A A	AGTATATA others(26): Show AGTATATATGTATTACATATACATATAATTATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 NA18971.hp2 HG00558.hp1 HG00621.hp1 NA18971.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0001 a0002c0002t0002 a0004c0005t0001	a0002c0002t0002g0263 a0002c0002t0002g0318 a0004c0005t0001g0047 a0002c0002t0002g0263 a0002c0002t0002g0318 a0004c0005t0001g0047	3	339	0.0088	33	c.85- others(50): Show c.85-10831_85-10799dupGTATAATTATATGTATATGTAATACATA TATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110353673	G G	GAGACCTC others(26): Show GAGACCTCACATTCCAAAGTGTGGTACTTCGGGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	370	0.0027	33	c.100 others(50): Show c.100-3798_100-3766dupAGACCTCACATTCCAAAGTGTGGTACTT CGGGC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355276	T T	TGCTCACC others(26): Show TGCTCACCTGTGTGTGTGGAGGAGGGCTGCAGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0020 a0020	a0020c0072 a0020c0072	a0020c0072t0048 a0020c0072t0048	a0020c0072t0048g0223 a0020c0072t0048g0223	1	369	0.0027	33	c.100 others(50): Show c.100-2186_100-2185insGTGTGTGGAGGAGGGCTGCAGTAGCTCA CCTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355276	T T	TGCTCACC others(26): Show TGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0057 a0013c0057	a0013c0057t0001 a0013c0057t0001	a0013c0057t0001g0234 a0013c0057t0001g0234	1	369	0.0027	33	c.100 others(50): Show c.100-2186_100-2185insGTGTGTGGGGGAGGGCTGCAGTAGCTCA CCTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355431	T T	TACTAGCT others(26): Show TACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18949.hp1 HG03017.hp2 NA18949.hp1	a0001 a0004 a0001 a0004	a0001c0028 a0004c0009 a0001c0028 a0004c0009	a0001c0028t0001 a0004c0009t0003 a0001c0028t0001 a0004c0009t0003	a0001c0028t0001g0167 a0004c0009t0003g0128 a0001c0028t0001g0167 a0004c0009t0003g0128	2	343	0.0058	33	c.100 others(50): Show c.100-1942_100-1910dupCACTAGCTCACCTGTGTGTGTGGGGGAG GGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355580	G G	GGGGGGAG others(26): Show GGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0003 a0004c0012t0003	a0004c0012t0003g0077 a0004c0012t0003g0077	1	238	0.0042	33	c.100 others(50): Show c.100-1882_100-1881insTGCACTAGCTCACCTGTGTGTGTGGGGG AGGGC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355628	C C	CTAGCTCA others(26): Show CTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0167 a0001c0028t0001g0167	1	345	0.0029	33	c.100 others(50): Show c.100-1836_100-1835insTTGTGTGTGTGGGGGAGGGCTGCAGTAG CTCAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355678	G G	GTGGGGGG others(26): Show GTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03540.hp1 HG02145.hp2 HG03540.hp1	a0001 a0013 a0001 a0013	a0001c0014 a0013c0057 a0001c0014 a0013c0057	a0001c0014t0009 a0013c0057t0001 a0001c0014t0009 a0013c0057t0001	a0001c0014t0009g0004 a0013c0057t0001g0234 a0001c0014t0009g0004 a0013c0057t0001g0234	2	370	0.0054	33	c.100 others(50): Show c.100-1794_100-1793insTGGGGGGAGGGCTGCACTAGCTCACCTG TGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355759	C C	CTAGCTCA others(26): Show CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0018 a0002c0041t0018	a0002c0041t0018g0003 a0002c0041t0018g0003	1	321	0.0031	33	c.100 others(50): Show c.100-1696_100-1695insTGGGGGAGGGCTGCAGTAGCTCACCTGT GTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355759	C C	CTAGCTCA others(26): Show CTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0201 a0001c0025t0001g0201	1	321	0.0031	33	c.100 others(50): Show c.100-1705_100-1704insTTGTGTGTGTGGGGGAGGGCTGCAGTAG CTCAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355825	T T	TAGCTCAC others(26): Show TAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0012 a0002c0035t0012	a0002c0035t0012g0328 a0002c0035t0012g0328	1	370	0.0027	33	c.100 others(50): Show c.100-1627_100-1626insTGGAGGGCTGTACAGCTCACCTGTGTGT GGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	56	0.0179	33	c.546 others(48): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18990.hp1 NA18994.hp2 others(1): Show NA18981.hp1 NA18990.hp1 NA18994.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0170 a0001c0001t0001g0231	4	59	0.0678	33	c.546 others(48): Show c.546+711_546+712insATATATATATATATATATATATATATATTT TTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18960.hp2 HG03130.hp1 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0006 a0001c0001t0001 a0003c0002t0006	a0001c0001t0001g0107 a0003c0002t0006g0064 a0001c0001t0001g0107 a0003c0002t0006g0064	2	57	0.0351	33	c.546 others(48): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0009 a0006c0013t0009	a0006c0013t0009g0041 a0006c0013t0009g0041	1	56	0.0179	33	c.546 others(48): Show c.546+711_546+712insATATATATATATATATATATATTTTTTTTT TTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134710891	T T	TTGTTGGG others(26): Show TTGTTGGGTGCAGTGGTGGGGGAGGGGCCCCGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02922.hp1 others(2): Show HG01884.hp2 HG02486.hp2 HG02922.hp1 HG03098.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0026 a0001c0005 a0001c0007 a0001c0026	a0001c0005t0006 a0001c0007t0006 a0001c0007t0015 others(2): Show a0001c0005t0006 a0001c0007t0006 a0001c0007t0015 a0001c0026t0006 a0001c0026t0041	a0001c0005t0006g0039 a0001c0007t0006g0002 a0001c0007t0015g0200 others(2): Show a0001c0005t0006g0039 a0001c0007t0006g0002 a0001c0007t0015g0200 a0001c0026t0006g0101 a0001c0026t0041g0036	5	220	0.0227	33	c.654 others(50): Show c.654+9624_654+9656dupCTGTTGGGTGCAGTGGTGGGGGAGGGGC CCCGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970212	T T	TGGGTGAG others(26): Show TGGGTGAGTGGGGTCTGGGTGAATGGGGTCTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00735.hp2 others(45): Show HG00323.hp1 HG00642.hp2 HG00735.hp2 HG01255.hp2 HG01256.hp1 HG01515.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02647.hp2 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG06807.hp2 NA18747.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19054.hp1 NA19056.hp1 NA19080.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2	a0003 a0011 a0012 others(10): Show a0003 a0011 a0012 a0017 a0022 a0032 a0033 a0037 a0044 a0050 a0065 a0069 a0070	a0003c0009 a0003c0011 a0003c0136 others(15): Show a0003c0009 a0003c0011 a0003c0136 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0017c0018 a0022c0027 a0032c0124 a0033c0078 a0037c0073 a0037c0102 a0044c0093 a0050c0103 a0065c0129 a0069c0079 a0070c0062	a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 others(25): Show a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0136t0009 a0011c0006t0003 a0011c0006t0006 a0011c0006t0009 a0011c0006t0016 a0011c0006t0018 a0012c0017t0002 a0012c0025t0001 a0012c0025t0002 a0012c0025t0003 a0012c0077t0001 a0017c0018t0003 a0017c0018t0006 a0017c0018t0009 a0022c0027t0002 a0032c0124t0001 a0033c0078t0001 a0037c0073t0006 a0037c0102t0003 a0044c0093t0001 a0050c0103t0003 a0065c0129t0006 a0069c0079t0003 a0070c0062t0003	a0003c0009t0003g0079 a0003c0009t0003g0295 a0003c0009t0003g0311 others(45): Show a0003c0009t0003g0079 a0003c0009t0003g0295 a0003c0009t0003g0311 a0003c0009t0003g0326 a0003c0009t0003g0327 a0003c0009t0003g0337 a0003c0009t0003g0369 a0003c0009t0003g0390 a0003c0011t0003g0059 a0003c0011t0003g0259 a0003c0011t0006g0260 a0003c0011t0006g0276 a0003c0011t0006g0310 a0003c0011t0009g0401 a0003c0011t0009g0402 a0003c0136t0009g0064 a0011c0006t0003g0195 a0011c0006t0003g0196 a0011c0006t0003g0211 a0011c0006t0003g0213 a0011c0006t0003g0216 a0011c0006t0006g0204 a0011c0006t0006g0214 a0011c0006t0006g0222 a0011c0006t0009g0207 a0011c0006t0016g0191 a0011c0006t0018g0058 a0012c0017t0002g0274 a0012c0025t0001g0325 a0012c0025t0002g0351 a0012c0025t0003g0294 a0012c0077t0001g0169 a0017c0018t0003g0018 a0017c0018t0003g0019 a0017c0018t0006g0017 a0017c0018t0009g0031 a0017c0018t0009g0032 a0022c0027t0002g0227 a0022c0027t0002g0228 a0032c0124t0001g0280 a0033c0078t0001g0243 a0037c0073t0006g0175 a0037c0102t0003g0112 a0044c0093t0001g0405 a0050c0103t0003g0399 a0065c0129t0006g0060 a0069c0079t0003g0306 a0070c0062t0003g0218	48	330	0.1455	33	c.393 others(50): Show c.3937-291_3937-290insCACAGACCCCATTCACCCAGACCCCACT CACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45978271	G G	GAGTGAGG others(26): Show GAGTGAGGGTGAGAGGAGGGGAGGGGGGAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	125	0.0080	33	c.-35 others(44): Show c.-3580_-3579insAGTGAGGGTGAGAGGAGGGGAGGGGGGAGAGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3498		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCAGCC others(26): Show TCCCAGCCCCGCCCCCTCCCCCTCCCCTCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	72	0.0139	33	c.-19 others(42): Show c.-195_-194insCCCAGCCCCGCCCCCTCCCCCTCCCCTCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988060	A A	AGGGGACG others(26): Show AGGGGACGGCGGGAGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0029	1	122	0.0082	33	c.804 others(48): Show c.804+418_804+419insAGTCCAGATGGAGGGGACGGCGGGGACGGC GGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988294	A A	AGGGGACG others(26): Show AGGGGACGGCGGGGGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04228.hp1 HG03688.hp2 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0034 a0001c0003t0003g0036	2	121	0.0165	33	c.804 others(48): Show c.804+653_804+654insGTCCAGATGGAGGGGACGGCGGGGACGGCG GGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46005881	C C	CGGGCCCG others(26): Show CGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG01167.hp2 others(19): Show HG00280.hp2 HG00423.hp1 HG01167.hp2 HG01943.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18983.hp2 NA19004.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0010 a0015 a0018	a0001c0001 a0001c0007 a0001c0022 others(9): Show a0001c0001 a0001c0007 a0001c0022 a0002c0002 a0003c0004 a0003c0028 a0005c0006 a0005c0023 a0005c0034 a0010c0026 a0015c0036 a0018c0033	a0001c0001t0002 a0001c0007t0001 a0001c0022t0007 others(11): Show a0001c0001t0002 a0001c0007t0001 a0001c0022t0007 a0002c0002t0009 a0003c0004t0001 a0003c0004t0002 a0003c0004t0012 a0003c0028t0001 a0005c0006t0001 a0005c0023t0001 a0005c0034t0001 a0010c0026t0002 a0015c0036t0005 a0018c0033t0002	a0001c0001t0002g0098 a0001c0007t0001g0001 a0001c0007t0001g0066 others(18): Show a0001c0001t0002g0098 a0001c0007t0001g0001 a0001c0007t0001g0066 a0001c0022t0007g0046 a0002c0002t0009g0038 a0002c0002t0009g0122 a0003c0004t0001g0062 a0003c0004t0001g0064 a0003c0004t0001g0095 a0003c0004t0002g0092 a0003c0004t0002g0100 a0003c0004t0012g0065 a0003c0028t0001g0053 a0005c0006t0001g0063 a0005c0006t0001g0069 a0005c0006t0001g0071 a0005c0023t0001g0060 a0005c0034t0001g0070 a0010c0026t0002g0116 a0015c0036t0005g0083 a0018c0033t0002g0082	22	126	0.1746	33	c.18 others(44): Show c.1868_*1869insGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		834		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46005896	C C	CGCAGTGA others(26): Show CGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	126	0.0079	33	c.18 others(44): Show c.1883_*1884insGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGAT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		849		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46005907	G G	GGTGGGCG others(26): Show GGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01074.hp2 others(19): Show HG00323.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01981.hp1 HG02148.hp1 HG02602.hp2 HG02622.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03927.hp1 HG04228.hp2 NA18612.hp2 NA19070.hp1 NA19088.hp1 NA19088.hp2	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0012 a0013 a0020	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008 a0008c0016 a0012c0015 a0013c0013 a0020c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0003 a0002c0002t0004 a0002c0002t0008 a0002c0008t0001 a0002c0008t0004 a0008c0016t0014 a0012c0015t0002 a0013c0013t0004 a0020c0031t0013	a0001c0001t0001g0067 a0001c0001t0002g0079 a0001c0001t0002g0080 others(19): Show a0001c0001t0001g0067 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0011g0125 a0001c0003t0003g0025 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0027 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0002t0008g0057 a0002c0002t0008g0117 a0002c0008t0001g0112 a0002c0008t0004g0032 a0008c0016t0014g0090 a0012c0015t0002g0089 a0013c0013t0004g0018 a0020c0031t0013g0022	22	126	0.1746	33	c.18 others(44): Show c.1894_*1895insGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		860		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46005920	C C	CGGGGCAG others(26): Show CGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	126	0.0079	33	c.19 others(44): Show c.1907_*1908insGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		873		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46005922	G G	GGGCAGAC others(26): Show GGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03453.hp2 others(1): Show HG02922.hp1 HG02965.hp1 HG03453.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0001c0012 a0003c0004 a0001c0010 a0001c0012 a0003c0004	a0001c0010t0005 a0001c0012t0005 a0003c0004t0001 a0001c0010t0005 a0001c0012t0005 a0003c0004t0001	a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 others(1): Show a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0003c0004t0001g0068	4	124	0.0323	33	c.19 others(44): Show c.1909_*1910insGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		875		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006272	C C	CGGGGCCC others(26): Show CGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	72	0.0139	33	c.22 others(44): Show c.2259_*2260insGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1225		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTATATATATG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	73	0.0137	33	c.932 others(52): Show c.9328+1332_9328+1333insCATATATATAATATATATATATATAT ATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130478694	A A	AGGGGGGG others(26): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0096 a0010c0009t0002g0096	1	290	0.0034	33	c.782 others(52): Show c.7820-5340_7820-5339insGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGG	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(26): Show GTATATATATATATATATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	200	0.0050	33	c.-3- others(50): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATA TATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18991.hp2 NA18940.hp2 NA18991.hp2	a0003 a0004 a0003 a0004	a0003c0006 a0004c0007 a0003c0006 a0004c0007	a0003c0006t0003 a0004c0007t0001 a0003c0006t0003 a0004c0007t0001	a0003c0006t0003g0078 a0004c0007t0001g0020 a0003c0006t0003g0078 a0004c0007t0001g0020	2	162	0.0123	33	c.250 others(52): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01346.hp2 HG02293.hp1 others(3): Show HG01168.hp1 HG01346.hp2 HG02293.hp1 NA18959.hp2 NA19011.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0029 others(3): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0127 a0001c0005t0001g0114	6	134	0.0448	33	c.-11 others(44): Show c.-1118_-1117insATATATATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02040.hp1 HG01975.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0001 a0001c0002t0001g0004	2	130	0.0154	33	c.-11 others(44): Show c.-1118_-1117insAAATATATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0073 a0001c0005t0001g0073	1	129	0.0078	33	c.-11 others(44): Show c.-1118_-1117insAAAAAAAAATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	129	0.0078	33	c.-11 others(44): Show c.-1118_-1117insAAAAAAAAAAATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318315	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02135.hp2 NA19066.hp1 HG00558.hp1 HG02135.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0129 a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0129	3	419	0.0072	33	c.-11 others(44): Show c.-1119_-1118insTATATATATATATATATATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1030		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3605540	T T	TGGTGAGG others(26): Show TGGTGAGGAGGGGGAGGGGAGTCACGTGGGTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0007 a0001c0014 others(7): Show a0001c0001 a0001c0007 a0001c0014 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0003c0009 a0003c0010 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0007t0001 a0001c0014t0001 a0002c0002t0001 a0002c0003t0001 a0002c0005t0002 a0002c0006t0001 a0003c0009t0001 a0003c0010t0001 a0007c0015t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 others(148): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0003g0117 a0001c0001t0005g0130 a0001c0007t0001g0135 a0001c0007t0001g0222 a0001c0007t0001g0257 a0001c0014t0001g0150 a0002c0002t0001g0034 a0002c0002t0001g0061 a0002c0002t0001g0189 a0002c0002t0001g0309 a0002c0003t0001g0024 a0002c0003t0001g0039 a0002c0005t0002g0020 a0002c0006t0001g0311 a0003c0009t0001g0352 a0003c0010t0001g0353 a0007c0015t0001g0147	154	372	0.4140	33	c.130 others(50): Show c.130+1071_130+1072insGTGAGGAGGGGGAGGGGAGTCACGTGGG TGCCG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3631680	A A	AGGGGCCC others(26): Show AGGGGCCCCTGCTCGGAGGGGGCTCTGCTCGGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	376	0.0027	33	c.203 others(50): Show c.203-5843_203-5811dupGCTCGGAGGGGGCTCTGCTCGGAGGGGG CCCCT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158290	T T	TCTCCCTC others(26): Show TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	348	0.0029	33	c.510 others(52): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(26): Show TCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	200	0.0050	33	c.510 others(52): Show c.510+24324_510+24325insTCCTCTCTCTCCGTCTCCTCTCTCCC CCTCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902775	A A	AAGGAAGG others(26): Show AAGGAAGGAAAGGAAGGAAAGGAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 NA20805.hp1 others(1): Show HG02132.hp1 HG02155.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0163 a0001c0002t0001g0214 a0001c0002t0001g0014 a0001c0002t0001g0163 a0001c0002t0001g0214	4	325	0.0123	33	c.735 others(48): Show c.735+492_735+493insCTTCCTTTCCTTCCTTTCCTTCCTTTCCTT CCT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COX19_chr7_959852_980549	964001	C C	CGCCGAGG others(26): Show CGCCGAGGCGGGAAACGGTTCCCCCCCAGAGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	365	0.0027	33	c.53 others(44): Show c.5376_*5377insAGGCTCTGGGGGGGAACCGTTTCCCGCCTCGGC	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		850		chr7	TogoVar
COX19_chr7_959852_980549	964020	T T	TCCCCCCA others(26): Show TCCCCCCAGAGCCTGCCGAGGCGGGAAACGGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG02976.hp1 others(4): Show HG02559.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0080 a0001c0001t0010g0083 a0001c0001t0010g0010 a0001c0001t0010g0080 a0001c0001t0010g0083	7	390	0.0179	33	c.53 others(44): Show c.5325_*5357dupGAACCGTTTCCCGCCTCGGCAGGCTCTGGGGGG	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		831		chr7	TogoVar
COX19_chr7_959852_980549	964059	C C	CAGAGCCT others(26): Show CAGAGCCTGCCGAGGCGGGAAACGGTTCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	430	0.0023	33	c.52 others(44): Show c.5286_*5318dupTGGGGGGAACCGTTTCCCGCCTCGGCAGGCTCT	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		792		chr7	TogoVar
COX6A2_chr16_31422731_31433360	31427922	G G	GCGCCCCG others(26): Show GCGCCCCGCGCGCACCCCCCCCCCCGCAGCACCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02630.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	21	0.0952	33	c.211 others(46): Show c.211-66_211-65insGGGTGCTGCGGGGGGGGGGGTGCGCGCGGGGC G	COX6A2	ENSG00000156885.6	transcript	ENST00000287490.5	protein_coding	2/2			chr16	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	176	0.0057	33	c.-30 others(44): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	369	0.0027	33	c.-43 others(44): Show c.-4348_-4347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar

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