Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A1_chr13_110143963_110312157	110253336	T T	TGTATGTA others(41): Show TGTATGTATTATATATACATATAATTAGGTATATATACATATAATTAGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18941.hp2 NA18968.hp2 others(2): Show HG02523.hp2 NA18941.hp2 NA18968.hp2 NA18982.hp1 NA19007.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0049 others(1): Show a0001c0001 a0002c0002 a0003c0049 a0004c0077	a0001c0001t0001 a0002c0002t0002 a0003c0049t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0049t0001 a0004c0077t0001	a0001c0001t0001g0037 a0001c0001t0001g0155 a0002c0002t0002g0304 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0155 a0002c0002t0002g0304 a0003c0049t0001g0243 a0004c0077t0001g0015	5	344	0.0145	48	c.85- others(65): Show c.85-10603_85-10602insCCTAATTATATGTATATATACCTAATTA TATGTATATATAATACATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385459	G G	GTGGATAG others(41): Show GTGGATAGACCGTGGCTGCAGTGTGTGGATAGACTGTGGTTACAGTGTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0008 a0002c0113t0008	a0002c0113t0008g0040 a0002c0113t0008g0040	1	372	0.0027	48	c.180 others(67): Show c.180+27914_180+27915insACCGTGGCTGCAGTGTGTGGATAGAC TGTGGTTACAGTGTCTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385572	G G	GCAGTGTG others(41): Show GCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0061 a0001c0003t0003g0061	1	372	0.0027	48	c.180 others(67): Show c.180+28034_180+28035insACCGTGGCTGCAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385666	C C	CTGCAGTG others(41): Show CTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCTGTGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0212 a0002c0038t0001g0212	1	372	0.0027	48	c.180 others(67): Show c.180+28130_180+28131insACCGTGGCTGCAGTGTGTGGATAGGC TGTGGTTGCAGTGTGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385738	T T	TTGCAGTG others(41): Show TTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0113 a0004c0030t0001g0113	1	372	0.0027	48	c.180 others(67): Show c.180+28193_180+28194insTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGACCGTGGCTGCAGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385755	G G	GCCGTGGC others(41): Show GCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0169 a0003c0007t0005g0169	1	372	0.0027	48	c.180 others(67): Show c.180+28209_180+28210insCTGCAGTGTGTGGATAGGCCGTGGCT GCAGTGTGTGGATAGACCGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385762	T T	TTACAGTG others(41): Show TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01106.hp1 HG01168.hp1	a0003 a0004 a0003 a0004	a0003c0007 a0004c0089 a0003c0007 a0004c0089	a0003c0007t0005 a0004c0089t0005 a0003c0007t0005 a0004c0089t0005	a0003c0007t0005g0221 a0004c0089t0005g0187 a0003c0007t0005g0221 a0004c0089t0005g0187	2	372	0.0054	48	c.180 others(67): Show c.180+28211_180+28212insACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGACCGTGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385859	T T	TACAGCGT others(41): Show TACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0008 a0002c0113t0008	a0002c0113t0008g0040 a0002c0113t0008g0040	1	372	0.0027	48	c.180 others(67): Show c.180+28307_180+28308insACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATGGGCCGTGGTC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385917	G G	GGATAGGC others(41): Show GGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCATGTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 NA18964.hp2 others(3): Show HG03491.hp1 HG03492.hp2 NA18964.hp2 NA18970.hp2 NA19080.hp1 NA19082.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0004 a0001c0015 a0001c0052 others(2): Show a0001c0004 a0001c0015 a0001c0052 a0004c0012 a0012c0034	a0001c0004t0004 a0001c0015t0002 a0001c0052t0003 others(2): Show a0001c0004t0004 a0001c0015t0002 a0001c0052t0003 a0004c0012t0003 a0012c0034t0001	a0001c0004t0004g0331 a0001c0015t0002g0284 a0001c0052t0003g0141 others(3): Show a0001c0004t0004g0331 a0001c0015t0002g0284 a0001c0052t0003g0141 a0004c0012t0003g0077 a0012c0034t0001g0196 a0012c0034t0001g0197	6	372	0.0161	48	c.180 others(67): Show c.180+28368_180+28369insAGGCCGTGGTTACAGCGTGTGGATAG GCCGTGGTTACAGCATGTCGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385941	G G	GGATAGAC others(41): Show GGATAGACCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGTGTGTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0017 a0017	a0017c0061 a0017c0061	a0017c0061t0011 a0017c0061t0011	a0017c0061t0011g0039 a0017c0061t0011g0039	1	372	0.0027	48	c.180 others(67): Show c.180+28392_180+28393insAGACCGTGGTTACAGCGTGTGGATAG GCCGTGGTTACAGTGTGTCGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385941	G G	GGATAGGC others(41): Show GGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCATGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01070.hp2 others(48): Show HG00280.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp2 NA18966.hp2 NA19005.hp2 NA19082.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0009 a0011 a0020	a0001c0001 a0001c0002 a0001c0005 others(33): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0001c0016 a0001c0022 a0001c0024 a0001c0045 a0001c0098 a0002c0013 a0002c0017 a0002c0019 a0002c0041 a0002c0054 a0002c0055 a0002c0056 a0002c0065 a0002c0066 a0002c0082 a0002c0090 a0003c0007 a0003c0010 a0003c0018 a0003c0026 a0003c0039 a0003c0044 a0003c0068 a0003c0093 a0003c0105 a0003c0118 a0006c0027 a0008c0023 a0009c0057 a0009c0088 a0011c0032 a0020c0096	a0001c0001t0001 a0001c0001t0042 a0001c0002t0029 others(40): Show a0001c0001t0001 a0001c0001t0042 a0001c0002t0029 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0014t0009 a0001c0016t0007 a0001c0022t0014 a0001c0024t0003 a0001c0045t0027 a0001c0098t0005 a0002c0013t0001 a0002c0017t0002 a0002c0019t0004 a0002c0041t0002 a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0065t0014 a0002c0066t0007 a0002c0082t0004 a0002c0090t0008 a0003c0007t0004 a0003c0007t0008 a0003c0007t0020 a0003c0007t0030 a0003c0010t0004 a0003c0010t0006 a0003c0018t0006 a0003c0026t0001 a0003c0039t0004 a0003c0044t0004 a0003c0068t0024 a0003c0093t0010 a0003c0105t0011 a0003c0118t0036 a0006c0027t0012 a0008c0023t0009 a0009c0057t0001 a0009c0088t0002 a0011c0032t0003 a0020c0096t0010	a0001c0001t0001g0001 a0001c0001t0042g0022 a0001c0002t0029g0204 others(46): Show a0001c0001t0001g0001 a0001c0001t0042g0022 a0001c0002t0029g0204 a0001c0005t0001g0362 a0001c0005t0002g0322 a0001c0005t0003g0080 a0001c0014t0009g0004 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0016t0007g0235 a0001c0022t0014g0037 a0001c0024t0003g0087 a0001c0045t0027g0205 a0001c0098t0005g0237 a0002c0013t0001g0044 a0002c0017t0002g0334 a0002c0017t0002g0370 a0002c0019t0004g0365 a0002c0041t0002g0369 a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0065t0014g0028 a0002c0066t0007g0181 a0002c0082t0004g0366 a0002c0090t0008g0041 a0003c0007t0004g0347 a0003c0007t0008g0186 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0010t0004g0002 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0018t0006g0121 a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0039t0004g0251 a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0068t0024g0247 a0003c0093t0010g0148 a0003c0105t0011g0168 a0003c0118t0036g0139 a0006c0027t0012g0281 a0008c0023t0009g0015 a0009c0057t0001g0234 a0009c0088t0002g0160 a0011c0032t0003g0123 a0020c0096t0010g0208	51	372	0.1371	48	c.180 others(67): Show c.180+28392_180+28393insAGGCCGTGGTTACAGCGTGTGGATAG GCCGTGGTTACAGCATGTCGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110386017	G G	GGGCCGTG others(41): Show GGGCCGTGGTTACAGTGTGTCGATGGGCCGTGGTTACAGTGTGTGGATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0116 a0003c0116	a0003c0116t0022 a0003c0116t0022	a0003c0116t0022g0367 a0003c0116t0022g0367	1	372	0.0027	48	c.180 others(67): Show c.180+28484_180+28485insCGATGGGCCGTGGTTACAGTGTGTGG ATAGGCCGTGGTTACAGTGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193887	G G	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGGAGGGAGGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(28): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02895.hp2 HG03017.hp2 HG03209.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18971.hp2 NA19010.hp2 NA19060.hp2 NA19240.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0014 a0017 a0024 a0029 a0031	a0001c0001 a0002c0004 a0002c0007 others(15): Show a0001c0001 a0002c0004 a0002c0007 a0003c0002 a0004c0003 a0005c0005 a0006c0010 a0006c0031 a0009c0008 a0010c0014 a0010c0018 a0011c0012 a0011c0021 a0014c0023 a0017c0019 a0024c0045 a0029c0035 a0031c0038	a0001c0001t0001 a0001c0001t0002 a0002c0004t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0006 a0002c0007t0001 a0003c0002t0004 a0004c0003t0004 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0006c0010t0006 a0006c0031t0006 a0009c0008t0001 a0010c0014t0002 a0010c0018t0002 a0011c0012t0001 a0011c0021t0003 a0014c0023t0002 a0017c0019t0019 a0024c0045t0002 a0029c0035t0004 a0031c0038t0003	a0001c0001t0001g0279 a0001c0001t0002g0082 a0002c0004t0006g0234 others(28): Show a0001c0001t0001g0279 a0001c0001t0002g0082 a0002c0004t0006g0234 a0002c0007t0001g0115 a0003c0002t0004g0281 a0004c0003t0004g0254 a0004c0003t0004g0255 a0004c0003t0004g0293 a0005c0005t0001g0176 a0005c0005t0001g0177 a0005c0005t0001g0243 a0005c0005t0002g0083 a0005c0005t0007g0114 a0005c0005t0007g0157 a0005c0005t0007g0162 a0005c0005t0007g0215 a0005c0005t0007g0249 a0005c0005t0007g0280 a0005c0005t0007g0298 a0006c0010t0006g0113 a0006c0031t0006g0081 a0009c0008t0001g0277 a0010c0014t0002g0324 a0010c0018t0002g0108 a0011c0012t0001g0321 a0011c0021t0003g0320 a0014c0023t0002g0080 a0017c0019t0019g0178 a0024c0045t0002g0076 a0029c0035t0004g0308 a0031c0038t0003g0103	31	344	0.0901	48	c.87+ others(65): Show c.87+29074_87+29075insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGGAGGGAGGGAGGGAAGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202852	T T	TGTATATA others(41): Show TGTATATATGTGTATATATGTGTATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18975.hp2 NA19000.hp2 HG02004.hp1 NA18975.hp2 NA19000.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0002 a0009c0008 a0001c0001 a0003c0002 a0009c0008	a0001c0001t0001 a0003c0002t0003 a0009c0008t0001 a0001c0001t0001 a0003c0002t0003 a0009c0008t0001	a0001c0001t0001g0022 a0003c0002t0003g0174 a0009c0008t0001g0208 a0001c0001t0001g0022 a0003c0002t0003g0174 a0009c0008t0001g0208	3	344	0.0087	48	c.88- others(65): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATACGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203183	G G	GTGTGTAT others(41): Show GTGTGTATATATACATATATGTGTATATACACACATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0235 a0007c0006t0005g0235	1	344	0.0029	48	c.88- others(65): Show c.88-34763_88-34716dupGTATATACACACATATATGTGTATATAT GTGTATATATACATATATGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03834.hp2 NA19074.hp2 HG01496.hp2 HG03834.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0035 a0001c0001t0001g0279 a0002c0004t0001g0168 a0001c0001t0001g0035 a0001c0001t0001g0279 a0002c0004t0001g0168	3	344	0.0087	48	c.546 others(63): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTT	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(41): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG04115.hp2 NA19088.hp2 HG02083.hp2 HG04115.hp2 NA19088.hp2	a0009 a0015 a0034 a0009 a0015 a0034	a0009c0008 a0015c0025 a0034c0033 a0009c0008 a0015c0025 a0034c0033	a0009c0008t0001 a0015c0025t0004 a0034c0033t0001 a0009c0008t0001 a0015c0025t0004 a0034c0033t0001	a0009c0008t0001g0265 a0015c0025t0004g0127 a0034c0033t0001g0188 a0009c0008t0001g0265 a0015c0025t0004g0127 a0034c0033t0001g0188	3	344	0.0087	48	c.546 others(63): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041806	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0004 a0008c0008t0004	a0008c0008t0004g0027 a0008c0008t0004g0027	1	284	0.0035	48	c.350 others(65): Show c.3505+341_3505+342insCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041852	A A	AAGAAAGA others(41): Show AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0004 a0008c0008t0004	a0008c0008t0004g0161 a0008c0008t0004g0161	1	284	0.0035	48	c.350 others(65): Show c.3505+295_3505+296insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(41): Show TTATATATATGTATATATGTATATATATGTATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(45): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01891.hp1 HG01934.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02165.hp1 HG02451.hp2 HG02809.hp2 HG03017.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp2 NA18952.hp1 NA18962.hp1 NA18968.hp1 NA18975.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0012 a0014 a0017 a0018 a0019 a0024 a0029 a0030	a0002c0002 a0003c0003 a0003c0014 others(13): Show a0002c0002 a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0004c0004 a0012c0011 a0014c0020 a0014c0052 a0017c0022 a0018c0023 a0019c0025 a0024c0069 a0029c0063 a0030c0062	a0002c0002t0002 a0003c0003t0003 a0003c0003t0031 others(15): Show a0002c0002t0002 a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0004c0004t0002 a0012c0011t0003 a0014c0020t0001 a0014c0020t0003 a0014c0052t0003 a0017c0022t0003 a0018c0023t0002 a0019c0025t0002 a0024c0069t0002 a0029c0063t0003 a0030c0062t0003	a0002c0002t0002g0047 a0002c0002t0002g0239 a0003c0003t0003g0004 others(45): Show a0002c0002t0002g0047 a0002c0002t0002g0239 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0057 a0003c0003t0003g0071 a0003c0003t0003g0076 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0116 a0003c0003t0003g0118 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0228 a0003c0003t0003g0241 a0003c0003t0003g0269 a0003c0003t0031g0250 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0027t0003g0096 a0003c0027t0003g0133 a0003c0073t0003g0018 a0004c0004t0002g0218 a0004c0004t0002g0260 a0012c0011t0003g0138 a0012c0011t0003g0219 a0012c0011t0003g0231 a0012c0011t0003g0233 a0014c0020t0001g0007 a0014c0020t0003g0103 a0014c0052t0003g0089 a0017c0022t0003g0254 a0017c0022t0003g0255 a0018c0023t0002g0052 a0018c0023t0002g0127 a0019c0025t0002g0198 a0019c0025t0002g0261 a0024c0069t0002g0015 a0029c0063t0003g0082 a0030c0062t0003g0265	48	284	0.1690	48	c.328 others(67): Show c.3289+1507_3289+1508insTACATATATATACATATATACATATA TATACATATATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(41): Show TTATATATATGTATATATGTATATATGTATATATATGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02896.hp2 others(2): Show HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1	a0011 a0041 a0011 a0041	a0011c0012 a0011c0053 a0041c0029 a0011c0012 a0011c0053 a0041c0029	a0011c0012t0006 a0011c0053t0015 a0041c0029t0004 a0011c0012t0006 a0011c0053t0015 a0041c0029t0004	a0011c0012t0006g0032 a0011c0012t0006g0256 a0011c0012t0006g0257 others(2): Show a0011c0012t0006g0032 a0011c0012t0006g0256 a0011c0012t0006g0257 a0011c0053t0015g0152 a0041c0029t0004g0026	5	284	0.0176	48	c.328 others(67): Show c.3289+1507_3289+1508insTATACATATATACATATATATACATA TATACATATATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134788593	G G	GTGGATAG others(41): Show GTGGATAGACAGATAGATGGATAGAGAGATAGATGGATAGACAGATAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01256.hp2 others(5): Show HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01952.hp2 HG02257.hp1 HG03669.hp1 HG03688.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0022 a0001c0023 a0001c0028 others(2): Show a0001c0022 a0001c0023 a0001c0028 a0003c0020 a0003c0021	a0001c0022t0002 a0001c0023t0001 a0001c0023t0002 others(3): Show a0001c0022t0002 a0001c0023t0001 a0001c0023t0002 a0001c0028t0004 a0003c0020t0001 a0003c0021t0001	a0001c0022t0002g0159 a0001c0023t0001g0014 a0001c0023t0002g0113 others(5): Show a0001c0022t0002g0159 a0001c0023t0001g0014 a0001c0023t0002g0113 a0001c0028t0004g0213 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166	8	272	0.0294	48	c.264 others(65): Show c.2647-537_2647-490dupGAGATAGATGGATAGACAGATAGATGGA TAGACAGATAGATGGATAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	31/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828559	A A	ATATACCA others(41): Show ATATACCACACACACCAGAGATACACACACCACACCACACACCACACAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02145.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0009 a0001c0007t0017 a0001c0001t0009 a0001c0007t0017	a0001c0001t0009g0233 a0001c0007t0017g0241 a0001c0001t0009g0233 a0001c0007t0017g0241	2	272	0.0074	48	c.506 others(67): Show c.5068-1417_5068-1416insTATACCACACACACCAGAGATACACA CACCACACCACACACCACACAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849717	T T	TATCACAC others(41): Show TATCACACCTCCCAGGAAGCGTGGTATCACACCTCCCAGGAAGCACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00673.hp1 others(23): Show HG00408.hp1 HG00558.hp1 HG00673.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02155.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG04199.hp2 NA18522.hp1 NA18969.hp2 NA18970.hp1 NA18983.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19067.hp2 NA19080.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0056 a0001c0058 a0002c0013 a0008c0030	a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 others(15): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0001t0031 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0003t0005 a0001c0003t0021 a0001c0003t0028 a0001c0003t0044 a0001c0015t0001 a0001c0015t0052 a0001c0056t0001 a0001c0058t0002 a0002c0013t0021 a0008c0030t0001	a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 others(23): Show a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0031g0075 a0001c0002t0001g0251 a0001c0002t0003g0154 a0001c0002t0005g0025 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0211 a0001c0002t0016g0237 a0001c0003t0005g0070 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0003t0044g0186 a0001c0015t0001g0268 a0001c0015t0052g0016 a0001c0056t0001g0084 a0001c0058t0002g0127 a0002c0013t0021g0071 a0008c0030t0001g0137	26	272	0.0956	48	c.74 others(59): Show c.7414_*7415insATCACACCTCCCAGGAAGCGTGGTATCACACCTC CCAGGAAGCACAGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4875		chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(41): Show GACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18940.hp1 NA18992.hp2 others(1): Show HG03831.hp2 NA18940.hp1 NA18992.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0002 a0001c0010t0007 a0001c0001t0001 a0001c0002t0002 a0001c0010t0007	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0002t0002g0059 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0002t0002g0059 a0001c0010t0007g0075	4	248	0.0161	48	c.457 others(65): Show c.457-2216_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094646	C C	CACACACA others(41): Show CACACACACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	248	0.0040	48	c.457 others(65): Show c.457-2227_457-2226insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(41): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0028 a0002c0008t0005g0031 a0002c0008t0005g0087 a0002c0008t0005g0028 a0002c0008t0005g0031 a0002c0008t0005g0087	3	372	0.0081	48	c.49 others(59): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGGTCA others(41): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0301 a0001c0002t0002g0301	1	372	0.0027	48	c.49 others(59): Show c.4964_*4965insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134491	C C	CAGGGTGA others(41): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG03195.hp1 others(1): Show HG01074.hp1 HG02451.hp1 HG03195.hp1 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0209 a0003c0004t0004g0216 a0003c0004t0004g0220 others(1): Show a0003c0004t0004g0209 a0003c0004t0004g0216 a0003c0004t0004g0220 a0003c0004t0004g0234	4	372	0.0108	48	c.50 others(59): Show c.5000_*5001insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4691		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134545	G G	GAGGGTCA others(41): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18984.hp1 NA18990.hp1 others(2): Show NA18972.hp2 NA18984.hp1 NA18990.hp1 NA19009.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307	5	372	0.0134	48	c.50 others(59): Show c.5054_*5055insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4745		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTCA others(41): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0235 a0003c0007t0003g0235	1	372	0.0027	48	c.50 others(59): Show c.5060_*5061insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134633	G G	GTCAGGTT others(41): Show GTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG02818.hp1 others(1): Show HG01978.hp1 HG02145.hp1 HG02818.hp1 HG03453.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0008 a0003c0018 a0001c0005 a0002c0008 a0003c0018	a0001c0005t0001 a0002c0008t0005 a0003c0018t0003 a0001c0005t0001 a0002c0008t0005 a0003c0018t0003	a0001c0005t0001g0263 a0002c0008t0005g0025 a0003c0018t0003g0242 others(1): Show a0001c0005t0001g0263 a0002c0008t0005g0025 a0003c0018t0003g0242 a0003c0018t0003g0243	4	372	0.0108	48	c.51 others(59): Show c.5142_*5143insTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4833		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134665	T T	TAGGGTCA others(41): Show TAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGATCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG04115.hp2 HG04204.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0034 a0008c0036 a0002c0003 a0002c0034 a0008c0036	a0002c0003t0008 a0002c0034t0008 a0008c0036t0008 a0002c0003t0008 a0002c0034t0008 a0008c0036t0008	a0002c0003t0008g0221 a0002c0034t0008g0046 a0008c0036t0008g0225 a0002c0003t0008g0221 a0002c0034t0008g0046 a0008c0036t0008g0225	3	372	0.0081	48	c.51 others(59): Show c.5174_*5175insAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGA TCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4865		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(41): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2	a0002 a0002	a0002c0012 a0002c0029 a0002c0012 a0002c0029	a0002c0012t0007 a0002c0029t0001 a0002c0012t0007 a0002c0029t0001	a0002c0012t0007g0029 a0002c0012t0007g0032 a0002c0029t0001g0089 a0002c0012t0007g0029 a0002c0012t0007g0032 a0002c0029t0001g0089	3	364	0.0082	48	c.18 others(59): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGGTCA others(41): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0300 a0001c0002t0002g0300	1	364	0.0028	48	c.19 others(59): Show c.1903_*1904insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134491	C C	CAGGGTGA others(41): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG03195.hp2 others(1): Show HG01074.hp1 HG02451.hp1 HG03195.hp2 HG03225.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0205 a0004c0005t0004g0212 a0004c0005t0004g0216 others(1): Show a0004c0005t0004g0205 a0004c0005t0004g0212 a0004c0005t0004g0216 a0004c0005t0004g0230	4	364	0.0110	48	c.19 others(59): Show c.1939_*1940insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1644		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134545	G G	GAGGGTCA others(41): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18990.hp1 NA19009.hp1 others(1): Show NA18984.hp1 NA18990.hp1 NA19009.hp1 NA19089.hp2	a0001 a0001	a0001c0006 a0001c0039 a0001c0006 a0001c0039	a0001c0006t0001 a0001c0039t0001 a0001c0006t0001 a0001c0039t0001	a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 others(1): Show a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0039t0001g0281	4	364	0.0110	48	c.19 others(59): Show c.1993_*1994insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1698		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTCA others(41): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0231 a0003c0016t0001g0231	1	364	0.0028	48	c.19 others(59): Show c.1999_*2000insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134633	G G	GTCAGGTT others(41): Show GTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG02818.hp1 others(1): Show HG01978.hp1 HG02145.hp1 HG02818.hp1 HG03453.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0012 a0003c0032 a0001c0015 a0002c0012 a0003c0032	a0001c0015t0002 a0002c0012t0001 a0003c0032t0001 a0001c0015t0002 a0002c0012t0001 a0003c0032t0001	a0001c0015t0002g0260 a0002c0012t0001g0026 a0003c0032t0001g0240 others(1): Show a0001c0015t0002g0260 a0002c0012t0001g0026 a0003c0032t0001g0240 a0003c0032t0001g0241	4	364	0.0110	48	c.20 others(59): Show c.2081_*2082insTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1786		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134665	T T	TAGGGTCA others(41): Show TAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGATCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG04115.hp2 HG04204.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0002 a0013 a0002 a0013	a0002c0013 a0002c0055 a0013c0057 a0002c0013 a0002c0055 a0013c0057	a0002c0013t0001 a0002c0055t0001 a0013c0057t0001 a0002c0013t0001 a0002c0055t0001 a0013c0057t0001	a0002c0013t0001g0217 a0002c0055t0001g0048 a0013c0057t0001g0221 a0002c0013t0001g0217 a0002c0055t0001g0048 a0013c0057t0001g0221	3	364	0.0082	48	c.21 others(59): Show c.2113_*2114insAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGA TCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1818		chr21	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(41): Show ATATTATATATATATATATATATATTATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0022	1	262	0.0038	48	c.-3- others(65): Show c.-3-16842_-3-16841insATTATATATATATATATATATATTATAT ATATATATATATATATTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	438	0.0023	48	c.-11 others(59): Show c.-1118_-1117insAAAAAAAAAAAAAAAATATATATATATATATATA TATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	438	0.0023	48	c.-11 others(59): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03579.hp2 HG02083.hp1 HG03579.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0003 a0002c0002t0001 a0005c0004t0003	a0002c0002t0001g0048 a0005c0004t0003g0043 a0002c0002t0001g0048 a0005c0004t0003g0043	2	438	0.0046	48	c.-11 others(59): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02273.hp1 HG03471.hp1 HG00423.hp2 HG02273.hp1 HG03471.hp1	a0003 a0011 a0003 a0011	a0003c0005 a0011c0014 a0003c0005 a0011c0014	a0003c0005t0001 a0011c0014t0003 a0003c0005t0001 a0011c0014t0003	a0003c0005t0001g0004 a0003c0005t0001g0103 a0011c0014t0003g0077 a0003c0005t0001g0004 a0003c0005t0001g0103 a0011c0014t0003g0077	3	438	0.0069	48	c.-11 others(59): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 NA18522.hp1 NA19009.hp2 HG03139.hp2 NA18522.hp1 NA19009.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0005 a0005c0004 a0002c0002 a0003c0005 a0005c0004	a0002c0002t0001 a0003c0005t0001 a0005c0004t0003 a0002c0002t0001 a0003c0005t0001 a0005c0004t0003	a0002c0002t0001g0019 a0003c0005t0001g0004 a0005c0004t0003g0018 a0002c0002t0001g0019 a0003c0005t0001g0004 a0005c0004t0003g0018	3	438	0.0069	48	c.-11 others(59): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(41): Show AGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	412	0.0024	48	c.630 others(63): Show c.630+132_630+179dupGAGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(41): Show AGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0026 a0026	a0026c0060 a0026c0060	a0026c0060t0002 a0026c0060t0002	a0026c0060t0002g0139 a0026c0060t0002g0139	1	412	0.0024	48	c.630 others(61): Show c.630+59_630+60insTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGAG others(41): Show AGGGAGAGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0058 a0009c0058	a0009c0058t0001 a0009c0058t0001	a0009c0058t0001g0137 a0009c0058t0001g0137	1	412	0.0024	48	c.630 others(61): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGGG others(41): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18966.hp1 HG03834.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0242 a0001c0005t0001g0042 a0001c0001t0001g0242 a0001c0005t0001g0042	2	412	0.0049	48	c.630 others(63): Show c.630+107_630+108insTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar

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