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	110253798	T T	TATGTATG others(6): Show TATGTATGTATTAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG01255.hp1 HG02300.hp2 HG02698.hp2 HG02738.hp1 HG03491.hp1 HG03704.hp1 HG03710.hp2 HG04204.hp2 NA18974.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0007 a0001c0010 a0001c0013 others(8): Show a0001c0007 a0001c0010 a0001c0013 a0002c0039 a0002c0093 a0003c0008 a0003c0045 a0003c0080 a0004c0005 a0004c0017 a0004c0022	a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 others(8): Show a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0002c0039t0002 a0002c0093t0003 a0003c0008t0001 a0003c0045t0002 a0003c0080t0001 a0004c0005t0001 a0004c0017t0001 a0004c0022t0001	a0001c0007t0001g0048 a0001c0010t0001g0148 a0001c0013t0001g0052 others(9): Show a0001c0007t0001g0048 a0001c0010t0001g0148 a0001c0013t0001g0052 a0002c0039t0002g0300 a0002c0093t0003g0215 a0003c0008t0001g0208 a0003c0008t0001g0209 a0003c0045t0002g0303 a0003c0080t0001g0206 a0004c0005t0001g0113 a0004c0017t0001g0093 a0004c0022t0001g0014	12	342	0.0351	13	c.85- others(30): Show c.85-11065_85-11064insGTAATACATACAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(6): Show GGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(24): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01256.hp1 HG02145.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03209.hp1 HG03654.hp2 NA18950.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18984.hp1 NA18984.hp2 NA18992.hp2 NA19010.hp2 NA19058.hp1 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0020 others(17): Show a0001c0001 a0001c0003 a0001c0020 a0001c0052 a0001c0066 a0001c0069 a0001c0072 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0024 a0002c0030 a0002c0048 a0002c0092 a0003c0008 a0003c0009 a0003c0041 a0003c0099 a0004c0022	a0001c0001t0001 a0001c0003t0001 a0001c0020t0001 others(20): Show a0001c0001t0001 a0001c0003t0001 a0001c0020t0001 a0001c0020t0005 a0001c0052t0001 a0001c0066t0001 a0001c0069t0001 a0001c0072t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0015t0001 a0002c0024t0002 a0002c0030t0008 a0002c0048t0001 a0002c0092t0002 a0003c0008t0003 a0003c0009t0001 a0003c0041t0002 a0003c0099t0003 a0004c0022t0001	a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0003t0001g0105 others(24): Show a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0003t0001g0105 a0001c0003t0001g0159 a0001c0020t0001g0090 a0001c0020t0005g0121 a0001c0052t0001g0147 a0001c0066t0001g0149 a0001c0069t0001g0158 a0001c0072t0001g0139 a0002c0002t0001g0218 a0002c0002t0002g0295 a0002c0002t0003g0193 a0002c0004t0001g0188 a0002c0011t0001g0211 a0002c0011t0001g0214 a0002c0015t0001g0229 a0002c0024t0002g0279 a0002c0030t0008g0187 a0002c0048t0001g0184 a0002c0048t0001g0185 a0002c0092t0002g0339 a0003c0008t0003g0231 a0003c0009t0001g0189 a0003c0041t0002g0298 a0003c0099t0003g0230 a0004c0022t0001g0050	27	197	0.1371	13	c.85- others(30): Show c.85-12970_85-12969insTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(6): Show GGGGCAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02523.hp2 HG02622.hp1 others(6): Show HG00621.hp2 HG02523.hp2 HG02622.hp1 HG02717.hp2 NA18941.hp2 NA18968.hp2 NA18982.hp1 NA19002.hp1 NA19007.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0088 a0003c0049 a0004c0070 a0004c0077 a0004c0078	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0088t0003 a0003c0049t0001 a0004c0070t0001 a0004c0077t0001 a0004c0078t0001	a0001c0001t0001g0039 a0001c0001t0001g0153 a0001c0003t0001g0016 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0153 a0001c0003t0001g0016 a0002c0002t0002g0302 a0002c0088t0003g0223 a0003c0049t0001g0241 a0004c0070t0001g0038 a0004c0077t0001g0017 a0004c0078t0001g0070	9	179	0.0503	13	c.85- others(30): Show c.85-12970_85-12969insTTCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110261035	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp1 HG01928.hp1 others(20): Show HG00438.hp1 HG01168.hp1 HG01928.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG04204.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18953.hp1 NA18960.hp2 NA18969.hp1 NA18981.hp2 NA19005.hp1 NA19079.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0010 others(14): Show a0001c0001 a0001c0003 a0001c0010 a0001c0019 a0001c0032 a0001c0065 a0002c0002 a0002c0004 a0002c0015 a0002c0040 a0002c0043 a0003c0012 a0003c0045 a0003c0081 a0004c0021 a0004c0053 a0006c0042	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(16): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0019t0001 a0001c0032t0001 a0001c0065t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0002c0004t0007 a0002c0015t0001 a0002c0040t0002 a0002c0043t0001 a0003c0012t0002 a0003c0045t0002 a0003c0081t0009 a0004c0021t0001 a0004c0053t0001 a0006c0042t0002	a0001c0001t0001g0042 a0001c0001t0001g0114 a0001c0003t0001g0157 others(20): Show a0001c0001t0001g0042 a0001c0001t0001g0114 a0001c0003t0001g0157 a0001c0010t0001g0086 a0001c0010t0001g0125 a0001c0019t0001g0029 a0001c0019t0001g0166 a0001c0032t0001g0083 a0001c0065t0001g0025 a0002c0002t0001g0198 a0002c0002t0002g0270 a0002c0002t0002g0329 a0002c0004t0002g0321 a0002c0004t0007g0172 a0002c0015t0001g0197 a0002c0040t0002g0337 a0002c0043t0001g0179 a0003c0012t0002g0277 a0003c0045t0002g0303 a0003c0081t0009g0181 a0004c0021t0001g0030 a0004c0053t0001g0057 a0006c0042t0002g0276	23	231	0.0996	13	c.85- others(30): Show c.85-18302_85-18301insTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110297406	C C	CACAATAA others(6): Show CACAATAAAGGAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02965.hp1 others(1): Show HG01109.hp1 HG02280.hp1 HG02965.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0029 a0002c0030 others(1): Show a0002c0004 a0002c0029 a0002c0030 a0002c0110	a0002c0004t0001 a0002c0029t0003 a0002c0030t0003 others(1): Show a0002c0004t0001 a0002c0029t0003 a0002c0030t0003 a0002c0110t0003	a0002c0004t0001g0254 a0002c0029t0003g0256 a0002c0030t0003g0253 others(1): Show a0002c0004t0001g0254 a0002c0029t0003g0256 a0002c0030t0003g0253 a0002c0110t0003g0255	4	342	0.0117	13	c.84+ others(28): Show c.84+9525_84+9537dupATTCCTTTATTGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509266	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0324 a0001c0014t0004g0324	1	366	0.0027	13	c.488 others(32): Show c.4881+1050_4881+1051insTATATATAATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0240 a0004c0003t0004g0240	1	56	0.0179	13	c.546 others(28): Show c.546+711_546+712insATATATATATTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227285277	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02109.hp1 HG02647.hp1	a0020 a0024 a0020 a0024	a0020c0050 a0024c0057 a0020c0050 a0024c0057	a0020c0050t0011 a0024c0057t0011 a0020c0050t0011 a0024c0057t0011	a0020c0050t0011g0060 a0024c0057t0011g0006 a0020c0050t0011g0060 a0024c0057t0011g0006	2	57	0.0351	13	c.288 others(30): Show c.2881+947_2881+959dupAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	34/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01261.hp1 others(24): Show HG00280.hp1 HG01106.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG02055.hp2 HG02083.hp1 HG02135.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp1 HG03540.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18906.hp1 NA19005.hp1 NA19005.hp2 NA19063.hp2 NA19070.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0003 a0006 others(8): Show a0002 a0003 a0006 a0008 a0009 a0010 a0012 a0017 a0022 a0025 a0038	a0002c0004 a0002c0007 a0003c0002 others(10): Show a0002c0004 a0002c0007 a0003c0002 a0003c0011 a0006c0013 a0008c0009 a0009c0008 a0010c0012 a0012c0022 a0017c0019 a0022c0048 a0025c0055 a0038c0058	a0002c0004t0008 a0002c0007t0001 a0003c0002t0001 others(11): Show a0002c0004t0008 a0002c0007t0001 a0003c0002t0001 a0003c0011t0001 a0003c0011t0009 a0006c0013t0001 a0008c0009t0001 a0009c0008t0001 a0010c0012t0001 a0012c0022t0001 a0017c0019t0019 a0022c0048t0001 a0025c0055t0001 a0038c0058t0001	a0002c0004t0008g0147 a0002c0004t0008g0331 a0002c0007t0001g0059 others(24): Show a0002c0004t0008g0147 a0002c0004t0008g0331 a0002c0007t0001g0059 a0002c0007t0001g0068 a0002c0007t0001g0271 a0003c0002t0001g0296 a0003c0011t0001g0143 a0003c0011t0001g0246 a0003c0011t0009g0156 a0006c0013t0001g0329 a0008c0009t0001g0117 a0008c0009t0001g0150 a0008c0009t0001g0160 a0008c0009t0001g0251 a0008c0009t0001g0281 a0008c0009t0001g0315 a0009c0008t0001g0110 a0009c0008t0001g0135 a0009c0008t0001g0224 a0009c0008t0001g0253 a0010c0012t0001g0239 a0010c0012t0001g0321 a0012c0022t0001g0004 a0017c0019t0019g0099 a0022c0048t0001g0198 a0025c0055t0001g0007 a0038c0058t0001g0008	27	51	0.5294	13	c.388 others(30): Show c.3883-344_3883-332dupAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227309997	G G	GGTAATTT others(6): Show GGTAATTTCTATCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0010 a0003c0039t0010	a0003c0039t0010g0005 a0003c0039t0010g0005	1	342	0.0029	13	c.475 others(30): Show c.4755+680_4755+692dupGTAATTTCTATCA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227060101	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0170 a0003c0003t0030g0170	1	82	0.0122	13	c.216 others(28): Show c.2164+22_2164+34dupTTTTTTTTTTTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	27/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108466941	A A	ATTGACAA others(6): Show ATTGACAAATACAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0119 a0003c0004t0001g0119	1	267	0.0037	13	c.81+ others(30): Show c.81+26736_81+26737insTGACAAATACACT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp1 HG02723.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0035 a0002c0002t0001g0006 a0002c0002t0001g0035	2	100	0.0200	13	c.81+ others(30): Show c.81+33428_81+33429insATATATATTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0067 a0002c0002t0001g0030 a0002c0002t0001g0067	2	100	0.0200	13	c.81+ others(30): Show c.81+33428_81+33429insATATATTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19087.hp2 NA19085.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0063 a0002c0002t0001g0020 a0002c0002t0001g0063	2	100	0.0200	13	c.81+ others(30): Show c.81+33428_81+33429insATATTTTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	99	0.0101	13	c.81+ others(30): Show c.81+33428_81+33429insATTTTTTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108300753	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	232	0.0043	13	c.144 others(30): Show c.144+9994_144+9995insACACACACACACA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108377941	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp1 NA18941.hp1 others(9): Show HG02083.hp1 HG02155.hp1 NA18941.hp1 NA18944.hp1 NA18957.hp2 NA18960.hp1 NA18969.hp1 NA18986.hp1 NA19056.hp1 NA19057.hp2 NA19085.hp1 NA21309.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0007 a0002c0003 a0006c0007	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0006c0007t0001	a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 others(9): Show a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0002g0012 a0002c0003t0002g0023 a0002c0003t0003g0033 a0006c0007t0001g0019 a0006c0007t0001g0020	12	126	0.0952	13	c.63+ others(30): Show c.63+59988_63+60000dupTTTTTTTTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A3_chr19_9954561_10015504	9956800	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01169.hp1 others(31): Show HG00639.hp1 HG01074.hp1 HG01169.hp1 HG01361.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 NA18939.hp1 NA18940.hp1 NA18949.hp1 NA18949.hp2 NA18956.hp2 NA18966.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp1 NA19043.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(16): Show a0001 a0002 a0006 a0007 a0008 a0009 a0012 a0016 a0018 a0019 a0020 a0021 a0022 a0026 a0032 a0047 a0059 a0071 a0076	a0001c0001 a0001c0003 a0001c0024 others(24): Show a0001c0001 a0001c0003 a0001c0024 a0001c0033 a0001c0089 a0002c0053 a0006c0005 a0007c0014 a0007c0055 a0008c0092 a0009c0007 a0009c0048 a0012c0025 a0016c0037 a0018c0026 a0018c0120 a0019c0035 a0019c0097 a0020c0028 a0021c0030 a0022c0027 a0026c0084 a0032c0088 a0047c0106 a0059c0100 a0071c0116 a0076c0115	a0001c0001t0001 a0001c0003t0002 a0001c0024t0001 others(25): Show a0001c0001t0001 a0001c0003t0002 a0001c0024t0001 a0001c0033t0011 a0001c0089t0001 a0002c0053t0001 a0006c0005t0001 a0007c0014t0001 a0007c0055t0001 a0007c0055t0002 a0008c0092t0002 a0009c0007t0024 a0009c0048t0001 a0012c0025t0002 a0016c0037t0002 a0018c0026t0002 a0018c0120t0002 a0019c0035t0002 a0019c0097t0002 a0020c0028t0001 a0021c0030t0002 a0022c0027t0002 a0026c0084t0012 a0032c0088t0002 a0047c0106t0002 a0059c0100t0001 a0071c0116t0002 a0076c0115t0002	a0001c0001t0001g0088 a0001c0001t0001g0246 a0001c0001t0001g0333 others(31): Show a0001c0001t0001g0088 a0001c0001t0001g0246 a0001c0001t0001g0333 a0001c0001t0001g0388 a0001c0003t0002g0255 a0001c0024t0001g0316 a0001c0033t0011g0179 a0001c0089t0001g0404 a0002c0053t0001g0321 a0006c0005t0001g0225 a0007c0014t0001g0385 a0007c0055t0001g0299 a0007c0055t0002g0288 a0008c0092t0002g0033 a0009c0007t0024g0142 a0009c0048t0001g0127 a0012c0025t0002g0351 a0016c0037t0002g0144 a0018c0026t0002g0301 a0018c0026t0002g0302 a0018c0120t0002g0300 a0019c0035t0002g0004 a0019c0035t0002g0303 a0019c0097t0002g0038 a0020c0028t0001g0193 a0021c0030t0002g0230 a0022c0027t0002g0227 a0022c0027t0002g0228 a0026c0084t0012g0178 a0032c0088t0002g0153 a0047c0106t0002g0043 a0059c0100t0001g0040 a0071c0116t0002g0379 a0076c0115t0002g0290	34	111	0.3063	13	c.36 others(24): Show c.3610_*3611insTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding		2760		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983600	G G	GAAAGAAA others(6): Show GAAAGAAAGAGAGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0001 a0024c0031t0001	a0024c0031t0001g0002 a0024c0031t0001g0002	1	361	0.0028	13	c.240 others(32): Show c.2407-1483_2407-1482insTCTCTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAGAGAG others(6): Show AAAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01168.hp1 others(7): Show HG00639.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01978.hp2 HG02109.hp1 HG02698.hp2 HG02922.hp1 HG03710.hp2 NA21309.hp1	a0019 a0021 a0025 others(2): Show a0019 a0021 a0025 a0032 a0057	a0019c0035 a0019c0097 a0021c0030 others(3): Show a0019c0035 a0019c0097 a0021c0030 a0025c0066 a0032c0088 a0057c0132	a0019c0035t0002 a0019c0097t0002 a0021c0030t0002 others(3): Show a0019c0035t0002 a0019c0097t0002 a0021c0030t0002 a0025c0066t0003 a0032c0088t0002 a0057c0132t0020	a0019c0035t0002g0004 a0019c0035t0002g0303 a0019c0097t0002g0038 others(6): Show a0019c0035t0002g0004 a0019c0035t0002g0303 a0019c0097t0002g0038 a0021c0030t0002g0224 a0021c0030t0002g0229 a0021c0030t0002g0230 a0025c0066t0003g0231 a0032c0088t0002g0153 a0057c0132t0020g0248	10	232	0.0431	13	c.214 others(30): Show c.2145+268_2145+269insCTTTCTCTCTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10008419	G G	GAGTCCTG others(6): Show GAGTCCTGCCTACA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0072 a0002c0020t0001g0072	1	410	0.0024	13	c.88+ others(28): Show c.88+1866_88+1878dupTGTAGGCAGGACT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	1/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980836	T T	TCTCTGTG others(6): Show TCTCTGTGTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	126	0.0079	13	c.-10 others(24): Show c.-1015_-1014insCTCTGTGTCTCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		933		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981687	C C	CCCGCCCC others(6): Show CCCGCCCCGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0010 a0001c0035t0002g0010	1	124	0.0081	13	c.-16 others(22): Show c.-164_-163insCCGCCCCGCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		82		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981715	C C	CCTCCCCT others(6): Show CCTCCCCTCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0058 a0004c0005t0001g0058	1	126	0.0079	13	c.-13 others(22): Show c.-136_-135insCTCCCCTCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		54		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46122652	C C	CCCCAAGG others(6): Show CCCCAAGGCCCTCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	370	0.0027	13	c.160 others(30): Show c.1608+131_1608+132insTCTCCCAAGGCCC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135850	C C	CCCCAGCG others(6): Show CCCCAGCGTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(139): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011	a0001c0002 a0001c0004 a0001c0007 others(26): Show a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0015 a0001c0023 a0001c0024 a0001c0033 a0001c0035 a0001c0042 a0001c0043 a0001c0045 a0001c0050 a0002c0003 a0002c0013 a0002c0031 a0002c0055 a0002c0061 a0002c0062 a0003c0010 a0003c0016 a0003c0063 a0003c0064 a0004c0005 a0005c0017 a0005c0065 a0007c0060 a0010c0057 a0011c0066	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(34): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0001 a0001c0007t0001 a0001c0009t0001 a0001c0015t0002 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0035t0001 a0001c0042t0002 a0001c0043t0002 a0001c0045t0001 a0001c0050t0002 a0002c0003t0001 a0002c0003t0015 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0002c0061t0001 a0002c0062t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0003c0064t0001 a0004c0005t0004 a0005c0017t0002 a0005c0065t0002 a0007c0060t0002 a0010c0057t0001 a0011c0066t0002	a0001c0002t0001g0040 a0001c0002t0001g0320 a0001c0002t0002g0001 others(124): Show a0001c0002t0001g0040 a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0124 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0304 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0327 a0001c0002t0008g0019 a0001c0002t0009g0328 a0001c0002t0012g0020 a0001c0002t0013g0313 a0001c0002t0014g0326 a0001c0004t0001g0009 a0001c0004t0001g0129 a0001c0007t0001g0301 a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 a0001c0009t0001g0261 a0001c0009t0001g0329 a0001c0009t0001g0333 a0001c0015t0002g0324 a0001c0015t0002g0325 a0001c0023t0001g0249 a0001c0023t0001g0250 a0001c0024t0002g0005 a0001c0024t0002g0318 a0001c0033t0002g0020 a0001c0035t0001g0053 a0001c0042t0002g0294 a0001c0043t0002g0284 a0001c0045t0001g0052 a0001c0050t0002g0297 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0061 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0089 a0002c0003t0001g0221 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0015g0088 a0002c0013t0001g0216 a0002c0013t0001g0218 a0002c0031t0001g0217 a0002c0031t0001g0219 a0002c0055t0001g0049 a0002c0061t0001g0067 a0002c0062t0001g0227 a0003c0010t0001g0206 a0003c0010t0001g0208 a0003c0010t0002g0323 a0003c0016t0002g0026 a0003c0063t0001g0047 a0003c0064t0001g0194 a0004c0005t0004g0237 a0004c0005t0004g0238 a0005c0017t0002g0256 a0005c0017t0002g0257 a0005c0017t0002g0311 a0005c0065t0002g0310 a0007c0060t0002g0071 a0010c0057t0001g0220 a0011c0066t0002g0282	142	361	0.3934	13	c.32 others(24): Show c.3298_*3299insCCCAGCGTTCCCT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3003		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135873	T T	TCCCTCCC others(6): Show TCCCTCCCAGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(34): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG01257.hp2 HG01884.hp1 HG02040.hp1 HG02109.hp2 HG02135.hp1 HG02258.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp2 HG03195.hp1 HG03490.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18947.hp2 NA19030.hp1 NA19065.hp2 NA19070.hp1 NA19080.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(5): Show a0001c0002 a0001c0004 a0002c0003 a0002c0061 a0002c0062 a0003c0010 a0003c0064 a0004c0005	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(6): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0015 a0002c0061t0001 a0002c0062t0001 a0003c0010t0001 a0003c0064t0001 a0004c0005t0004	a0001c0002t0001g0040 a0001c0002t0001g0320 a0001c0004t0001g0009 others(33): Show a0001c0002t0001g0040 a0001c0002t0001g0320 a0001c0004t0001g0009 a0001c0004t0001g0129 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0061 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0086 a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0015g0088 a0002c0061t0001g0067 a0002c0062t0001g0227 a0003c0010t0001g0206 a0003c0010t0001g0208 a0003c0064t0001g0194 a0004c0005t0004g0237 a0004c0005t0004g0238	37	352	0.1051	13	c.33 others(24): Show c.3321_*3322insCCCTCCCAGCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3026		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(6): Show CCCCTCCCAGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02451.hp1 others(2): Show HG01074.hp1 HG01109.hp1 HG02451.hp1 HG02486.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0193 a0004c0005t0004g0204 a0004c0005t0004g0209 others(2): Show a0004c0005t0004g0193 a0004c0005t0004g0204 a0004c0005t0004g0209 a0004c0005t0004g0211 a0004c0005t0004g0212	5	240	0.0208	13	c.33 others(24): Show c.3334_*3335insCCCTCCCAGCATT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135912	T T	TCCCTCCC others(6): Show TCCCTCCCAGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0052 a0001c0045t0001g0052	1	354	0.0028	13	c.33 others(24): Show c.3360_*3361insCCCTCCCAGTCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3065		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATTATA others(6): Show ATATTATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG01516.hp1 others(9): Show HG01175.hp1 HG01433.hp2 HG01516.hp1 HG01934.hp1 HG02056.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03471.hp2 HG03710.hp1 NA18947.hp2	a0001 a0005 a0012 others(1): Show a0001 a0005 a0012 a0017	a0001c0002 a0001c0014 a0001c0095 others(3): Show a0001c0002 a0001c0014 a0001c0095 a0005c0017 a0012c0018 a0017c0036	a0001c0002t0001 a0001c0002t0002 a0001c0014t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0014t0001 a0001c0095t0001 a0005c0017t0001 a0005c0017t0002 a0012c0018t0002 a0017c0036t0001	a0001c0002t0001g0285 a0001c0002t0001g0315 a0001c0002t0002g0040 others(8): Show a0001c0002t0001g0285 a0001c0002t0001g0315 a0001c0002t0002g0040 a0001c0002t0002g0149 a0001c0014t0001g0127 a0001c0095t0001g0260 a0005c0017t0001g0129 a0005c0017t0002g0277 a0012c0018t0002g0002 a0012c0018t0002g0059 a0017c0036t0001g0068	12	84	0.1429	13	c.932 others(32): Show c.9328+1332_9328+1333insCATATATATAATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237415352	G G	GAAGAGAA others(6): Show GAAGAGAAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	298	0.0034	13	c.-14 others(24): Show c.-1431_-1430insTCTTTTTTCTCTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding		1189		chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362327	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0021 a0006c0005t0003g0021	1	279	0.0036	13	c.-28 others(32): Show c.-28-11284_-28-11283insATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130542898	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0045 a0045	a0045c0041 a0045c0041	a0045c0041t0001 a0045c0041t0001	a0045c0041t0001g0021 a0045c0041t0001g0021	1	69	0.0145	13	c.-31 others(32): Show c.-31-17422_-31-17410dupTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130616205	C C	CTATAAAT others(6): Show CTATAAATTCTATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03453.hp2 HG02572.hp1 HG02615.hp1 HG03453.hp2	a0023 a0031 a0023 a0031	a0023c0030 a0031c0077 a0023c0030 a0031c0077	a0023c0030t0001 a0023c0030t0004 a0031c0077t0001 a0023c0030t0001 a0023c0030t0004 a0031c0077t0001	a0023c0030t0001g0155 a0023c0030t0004g0103 a0031c0077t0001g0147 a0023c0030t0001g0155 a0023c0030t0004g0103 a0031c0077t0001g0147	3	262	0.0115	13	c.481 others(32): Show c.4815+5494_4815+5495insTATAAATTCTATA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	23/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130673220	A A	AAAAAAAA others(6): Show AAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03486.hp1 HG03516.hp2 HG01109.hp2 HG03486.hp1 HG03516.hp2	a0007 a0008 a0007 a0008	a0007c0072 a0008c0006 a0008c0034 a0007c0072 a0008c0006 a0008c0034	a0007c0072t0020 a0008c0006t0007 a0008c0034t0001 a0007c0072t0020 a0008c0006t0007 a0008c0034t0001	a0007c0072t0020g0190 a0008c0006t0007g0227 a0008c0034t0001g0102 a0007c0072t0020g0190 a0008c0006t0007g0227 a0008c0034t0001g0102	3	191	0.0157	13	c.659 others(32): Show c.6597-1973_6597-1972insAACCAAAAAAAAA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	36/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773821	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show HG02109.hp1 HG02630.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0024 a0001c0002t0008 a0001c0002t0024	a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 a0001c0002t0008g0042 a0001c0002t0024g0197	5	260	0.0192	13	c.-3- others(30): Show c.-3-16858_-3-16846dupTATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	142	0.0070	13	c.-3- others(30): Show c.-3-16842_-3-16841insATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70215912	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00323.hp1 HG00323.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0002 a0001c0001t0002 a0005c0005t0002	a0001c0001t0002g0146 a0005c0005t0002g0017 a0001c0001t0002g0146 a0005c0005t0002g0017	2	127	0.0157	13	c.98 others(22): Show c.984_*985insGTGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding		213		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0347 a0003c0003t0007g0347	1	161	0.0062	13	c.250 others(32): Show c.2504-1428_2504-1416dupTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267319	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02738.hp1 HG03225.hp1 others(2): Show HG01433.hp2 HG02738.hp1 HG03225.hp1 HG03834.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0016 others(1): Show a0001c0001 a0002c0004 a0002c0016 a0004c0007	a0001c0001t0004 a0002c0004t0003 a0002c0004t0004 others(2): Show a0001c0001t0004 a0002c0004t0003 a0002c0004t0004 a0002c0016t0004 a0004c0007t0006	a0001c0001t0004g0259 a0002c0004t0003g0264 a0002c0004t0004g0254 others(2): Show a0001c0001t0004g0259 a0002c0004t0003g0264 a0002c0004t0004g0254 a0002c0016t0004g0101 a0004c0007t0006g0343	5	317	0.0158	13	c.128 others(30): Show c.1288-550_1288-549insAAAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0126 a0002c0004t0008g0126	1	206	0.0049	13	c.128 others(30): Show c.1288-558_1288-557insAAAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318310	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	428	0.0023	13	c.-11 others(24): Show c.-1114_-1113insAAAAAAAAAAAAA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1025		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18947.hp1 NA18954.hp2 others(1): Show NA18943.hp1 NA18947.hp1 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0001 a0001c0002t0001g0028	4	132	0.0303	13	c.-11 others(24): Show c.-1118_-1117insATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(6): Show ATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	129	0.0078	13	c.-11 others(24): Show c.-1118_-1117insAAATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAAATTTT others(6): Show AAAATTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	262	0.0038	13	c.-39 others(24): Show c.-3926_-3925insATATATAAAATTT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(6): Show AATTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02109.hp1 HG02145.hp2 others(8): Show HG00544.hp1 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02895.hp2 HG03041.hp2 HG03540.hp2 HG04204.hp1 HG06807.hp1 NA19058.hp2 NA19091.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0009 a0002c0001t0001g0011 others(5): Show a0002c0001t0001g0003 a0002c0001t0001g0009 a0002c0001t0001g0011 a0002c0001t0001g0018 a0002c0001t0001g0034 a0002c0001t0001g0055 a0002c0001t0001g0061 a0002c0001t0001g0161	11	272	0.0404	13	c.-39 others(24): Show c.-3926_-3925insATATATATATAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321123	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0009 a0002c0001t0001g0009	1	139	0.0072	13	c.-39 others(24): Show c.-3927_-3926insTATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(6): Show TATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	205	0.0049	13	c.-39 others(24): Show c.-3962_-3961insTTTATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	205	0.0049	13	c.-39 others(24): Show c.-3962_-3961insTATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar

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