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
COL23A1_chr5_178232618_178595393	178523201	T T	TATATATA others(35): Show TATATATATACACATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	92	0.0109	42	c.361 others(61): Show c.361+37480_361+37481insCTCTCTCTATATATATATATATATAT ATATGTGTATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178551134	A A	ATATATTA others(35): Show ATATATTAATATATTATATGTTATATATTATATTAATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(119): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0005 a0002c0002 others(10): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0009 a0002c0013 a0002c0018 a0003c0004 a0003c0007 a0004c0006 a0005c0008 a0007c0016 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0009t0008 a0002c0013t0003 a0002c0018t0009 a0003c0004t0002 a0003c0004t0003 a0003c0007t0001 a0004c0006t0003 a0005c0008t0002 a0007c0016t0012 a0008c0015t0002	a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0002g0048 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0196 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0001t0005g0207 a0001c0001t0006g0230 a0001c0001t0007g0008 a0001c0005t0001g0007 a0001c0005t0001g0042 a0001c0005t0001g0106 a0001c0005t0002g0120 a0001c0005t0004g0023 a0001c0005t0004g0111 a0001c0005t0004g0223 a0001c0005t0005g0059 a0001c0005t0005g0060 a0001c0005t0005g0102 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0031 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0073 a0002c0002t0001g0085 a0002c0002t0001g0096 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0010g0228 a0002c0002t0011g0038 a0002c0003t0001g0004 a0002c0003t0001g0129 a0002c0003t0002g0034 a0002c0003t0002g0076 a0002c0003t0002g0121 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0003g0195 a0002c0003t0004g0077 a0002c0003t0004g0078 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0005g0146 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0009t0008g0235 a0002c0013t0003g0124 a0002c0018t0009g0233 a0003c0004t0002g0061 a0003c0004t0003g0010 a0003c0004t0003g0156 a0003c0004t0003g0217 a0003c0007t0001g0044 a0004c0006t0003g0062 a0005c0008t0002g0003 a0005c0008t0002g0050 a0005c0008t0002g0053 a0005c0008t0002g0155 a0005c0008t0002g0187 a0007c0016t0012g0080 a0008c0015t0002g0109	122	234	0.5214	42	c.361 others(59): Show c.361+9506_361+9547dupAAATATATTAATATAATATATAACATAT AATATATTAATATA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178551134	A A	ATATATTA others(35): Show ATATATTACTATATTATATGTTATATATTATATTAATATATTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	113	0.0088	42	c.361 others(59): Show c.361+9547_361+9548insAAATATATTAATATAATATATAACATAT AATATAGTAATATA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178551146	A A	ATTATATG others(35): Show ATTATATGTTATATATTATATTAATATATTTTATATTAATATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	236	0.0042	42	c.361 others(59): Show c.361+9535_361+9536insCATATTAATATAAAATATATTAATATAA TATATAACATATAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85996493	T T	TGGCGAAA others(35): Show TGGCGAAACCCCGTCTCTGCTAAAAATACAAAAAAATTAGCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(109): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0021 a0022 a0023 a0026 a0029 a0033 a0035 a0043 a0044 a0046 a0048 a0049	a0001c0001 a0001c0005 a0001c0041 others(36): Show a0001c0001 a0001c0005 a0001c0041 a0001c0066 a0002c0007 a0002c0016 a0002c0019 a0002c0024 a0002c0027 a0002c0031 a0002c0056 a0003c0003 a0003c0011 a0004c0002 a0005c0013 a0006c0028 a0008c0006 a0008c0049 a0009c0008 a0010c0009 a0011c0012 a0012c0015 a0012c0034 a0013c0018 a0014c0020 a0016c0029 a0021c0051 a0021c0052 a0022c0033 a0023c0026 a0026c0069 a0029c0068 a0033c0054 a0035c0075 a0043c0035 a0044c0078 a0046c0077 a0048c0067 a0049c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0041t0004 a0001c0066t0001 a0002c0007t0001 a0002c0007t0002 a0002c0016t0001 a0002c0016t0005 a0002c0019t0003 a0002c0024t0005 a0002c0027t0002 a0002c0027t0008 a0002c0031t0004 a0002c0056t0001 a0003c0003t0002 a0003c0003t0008 a0003c0011t0001 a0003c0011t0002 a0003c0011t0003 a0004c0002t0001 a0004c0002t0002 a0005c0013t0002 a0006c0028t0002 a0008c0006t0001 a0008c0006t0002 a0008c0049t0002 a0009c0008t0001 a0009c0008t0002 a0009c0008t0014 a0010c0009t0002 a0011c0012t0002 a0012c0015t0001 a0012c0015t0002 a0012c0034t0003 a0013c0018t0004 a0014c0020t0002 a0016c0029t0001 a0021c0051t0002 a0021c0052t0003 a0022c0033t0001 a0023c0026t0001 a0026c0069t0004 a0029c0068t0003 a0033c0054t0004 a0035c0075t0008 a0043c0035t0015 a0044c0078t0002 a0046c0077t0001 a0048c0067t0001 a0049c0037t0002	a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0099 others(109): Show a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0194 a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0179 a0001c0001t0003g0157 a0001c0001t0010g0132 a0001c0001t0010g0142 a0001c0005t0001g0133 a0001c0005t0001g0139 a0001c0005t0001g0185 a0001c0005t0002g0170 a0001c0005t0002g0187 a0001c0005t0002g0196 a0001c0005t0003g0224 a0001c0041t0004g0148 a0001c0066t0001g0137 a0002c0007t0001g0075 a0002c0007t0002g0076 a0002c0007t0002g0079 a0002c0007t0002g0080 a0002c0007t0002g0084 a0002c0007t0002g0085 a0002c0007t0002g0088 a0002c0007t0002g0090 a0002c0016t0001g0171 a0002c0016t0005g0012 a0002c0019t0003g0066 a0002c0019t0003g0070 a0002c0024t0005g0014 a0002c0024t0005g0015 a0002c0027t0002g0078 a0002c0027t0008g0064 a0002c0031t0004g0065 a0002c0031t0004g0067 a0002c0056t0001g0089 a0003c0003t0002g0143 a0003c0003t0002g0146 a0003c0003t0008g0150 a0003c0011t0001g0193 a0003c0011t0002g0042 a0003c0011t0003g0213 a0004c0002t0001g0151 a0004c0002t0002g0140 a0005c0013t0002g0199 a0006c0028t0002g0086 a0008c0006t0001g0034 a0008c0006t0001g0048 a0008c0006t0001g0049 a0008c0006t0001g0050 a0008c0006t0001g0054 a0008c0006t0001g0056 a0008c0006t0001g0059 a0008c0006t0002g0047 a0008c0006t0002g0055 a0008c0049t0002g0057 a0009c0008t0001g0101 a0009c0008t0002g0102 a0009c0008t0002g0105 a0009c0008t0002g0106 a0009c0008t0002g0109 a0009c0008t0014g0103 a0010c0009t0002g0053 a0011c0012t0002g0032 a0011c0012t0002g0033 a0012c0015t0001g0028 a0012c0015t0002g0027 a0012c0034t0003g0026 a0013c0018t0004g0061 a0013c0018t0004g0062 a0013c0018t0004g0063 a0014c0020t0002g0172 a0014c0020t0002g0173 a0014c0020t0002g0174 a0016c0029t0001g0077 a0021c0051t0002g0096 a0021c0052t0003g0098 a0022c0033t0001g0197 a0022c0033t0001g0231 a0023c0026t0001g0037 a0023c0026t0001g0046 a0026c0069t0004g0124 a0029c0068t0003g0169 a0033c0054t0004g0097 a0035c0075t0008g0217 a0043c0035t0015g0029 a0044c0078t0002g0237 a0046c0077t0001g0198 a0048c0067t0001g0176 a0049c0037t0002g0020	112	236	0.4746	42	c.231 others(61): Show c.2311-8840_2311-8839insCGGCTAATTTTTTTGTATTTTTAGCA GAGACGGGGTTTCGCC	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0002 a0004c0002t0002	a0004c0002t0002g0140 a0004c0002t0002g0140	1	121	0.0083	42	c.231 others(61): Show c.2311-9402_2311-9401insTATATATATATATATATATACACACA CACACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL26A1_chr7_101357875_101564024	101472692	C C	CACTGTAG others(35): Show CACTGTAGCAATCTCGTTAGATGCTATTCTCTTTCCTACATCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0104 a0002c0004t0001g0104	1	172	0.0058	42	c.385 others(61): Show c.385+24905_385+24906insACTGTAGCAATCTCGTTAGATGCTAT TCTCTTTCCTACATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110219692	A A	ATATATGT others(35): Show ATATATGTATATATATGTATATATGTATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0229 a0002c0015t0001g0229	1	342	0.0029	42	c.145 others(59): Show c.145-5678_145-5677insCATATATACATATATATACATATATACA TATATATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110456978	C C	CATGCCCT others(35): Show CATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp1 HG02451.hp2 others(2): Show HG01346.hp1 HG02055.hp1 HG02451.hp2 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0098 others(1): Show a0001c0002 a0001c0011 a0001c0098 a0001c0119	a0001c0002t0001 a0001c0002t0029 a0001c0011t0022 others(2): Show a0001c0002t0001 a0001c0002t0029 a0001c0011t0022 a0001c0098t0005 a0001c0119t0032	a0001c0002t0001g0101 a0001c0002t0029g0204 a0001c0011t0022g0358 others(2): Show a0001c0002t0001g0101 a0001c0002t0029g0204 a0001c0011t0022g0358 a0001c0098t0005g0237 a0001c0119t0032g0005	5	238	0.0210	42	c.134 others(59): Show c.1340-275_1340-234dupCTGCGTCTGCGTGGGACCCCAGGCGTCC GTGGGGCTGATGCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110457216	C C	CGTCCGTG others(35): Show CGTCCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0002 a0019 a0002 a0019	a0002c0107 a0019c0061 a0002c0107 a0019c0061	a0002c0107t0033 a0019c0061t0011 a0002c0107t0033 a0019c0061t0011	a0002c0107t0033g0174 a0019c0061t0011g0039 a0002c0107t0033g0174 a0019c0061t0011g0039	2	370	0.0054	42	c.134 others(57): Show c.1340-86_1340-85insTGTCCGTGGGGCTGATGCCCTGCGTCTGCG TGGGACCCCAGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203408	C C	CATATATG others(35): Show CATATATGTGTGTATATATGTGTATATATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0040 a0002c0004t0008g0040	1	142	0.0070	42	c.88- others(59): Show c.88-34550_88-34549insGTATATATGTGTATATATACATATATGT GTGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249212	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	315	0.0032	42	c.546 others(57): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATATAT	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(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0009 a0006c0013t0009	a0006c0013t0009g0140 a0006c0013t0009g0140	1	56	0.0179	42	c.546 others(57): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATTTTTTTTT	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(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0295 a0005c0005t0007g0295	1	56	0.0179	42	c.546 others(57): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTTTTTTTTT	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(35): Show ATATATATATATATATATATATATATATATTTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0303 a0004c0003t0004g0303	1	56	0.0179	42	c.546 others(57): Show c.546+711_546+712insATATATATATATATATATATATATATATTT ATTTTTTTTTTT	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(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0212 a0004c0003t0004g0212	1	56	0.0179	42	c.546 others(57): Show c.546+711_546+712insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045965	A A	ATATTTAT others(35): Show ATATTTATATATGTATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02572.hp2 others(6): Show HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0007 a0032 a0007 a0032	a0007c0006 a0007c0031 a0032c0067 a0007c0006 a0007c0031 a0032c0067	a0007c0006t0004 a0007c0006t0035 a0007c0031t0004 others(1): Show a0007c0006t0004 a0007c0006t0035 a0007c0031t0004 a0032c0067t0028	a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0174 others(6): Show a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0174 a0007c0006t0004g0176 a0007c0006t0004g0177 a0007c0006t0004g0182 a0007c0006t0035g0164 a0007c0031t0004g0171 a0032c0067t0028g0239	9	264	0.0341	42	c.328 others(61): Show c.3289+1509_3289+1510insCATATATATATACATATATACATATA TATACATATATAAATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(35): Show TTATATATATGTATATATGTATATATATGTATATATATATGTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	131	0.0076	42	c.328 others(61): Show c.3289+1507_3289+1508insTACATATATATATACATATATATACA TATATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(35): Show TTATATATATGTATATATGTATATATATGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	131	0.0076	42	c.328 others(61): Show c.3289+1507_3289+1508insTATATACATATATACATATATATACA TATATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679632	T T	TGGTTGGG others(35): Show TGGTTGGGGGCACTGCGGGGCTTCTTAGGGGGCACTGCGGGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	266	0.0038	42	c.110 others(61): Show c.110-11280_110-11279insGGTTGGGGGCACTGCGGGGCTTCTTA GGGGGCACTGCGGGGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65			chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(35): Show GACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG02165.hp2 others(6): Show HG00280.hp2 HG00621.hp1 HG02165.hp2 HG02486.hp1 HG02895.hp2 HG03540.hp2 NA19076.hp1 NA19088.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0088 others(6): Show a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0155 a0006c0011t0001g0078	9	28	0.3214	42	c.457 others(59): Show c.457-2210_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45977317	C C	CCCTCTCC others(35): Show CCCTCTCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTGTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	126	0.0079	42	c.-45 others(53): Show c.-4534_-4533insCCTCTCCCCCTCCCCCCTCTTCCCACCCCCTCCC CTGTCCCA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4452		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(35): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	239	0.0042	42	c.49 others(53): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGG TCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134467	G G	GAGGGTCA others(35): Show GAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	136	0.0074	42	c.49 others(53): Show c.4976_*4977insAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT TTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4667		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134467	G G	GAGGGTCA others(35): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG01884.hp2 others(15): Show HG00558.hp1 HG00733.hp2 HG01884.hp2 HG02135.hp2 HG02258.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp1 HG03540.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18972.hp1 NA18977.hp2 NA19068.hp2 NA19070.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0012 others(4): Show a0001c0001 a0001c0005 a0001c0012 a0002c0008 a0003c0007 a0004c0016 a0004c0035	a0001c0001t0001 a0001c0005t0001 a0001c0012t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0012t0001 a0002c0008t0001 a0003c0007t0001 a0004c0016t0003 a0004c0035t0003	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0184 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0012t0001g0237 a0002c0008t0001g0094 a0002c0008t0001g0095 a0003c0007t0001g0201 a0004c0016t0003g0097 a0004c0035t0003g0098	18	153	0.1176	42	c.49 others(53): Show c.4976_*4977insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4667		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134491	C C	CAGGGTGA others(35): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0214 a0003c0004t0004g0214	1	321	0.0031	42	c.50 others(53): Show c.5000_*5001insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4691		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134545	G G	GAGGGTCA others(35): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01169.hp2 HG01433.hp2 others(16): Show HG01099.hp1 HG01169.hp2 HG01433.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02165.hp2 HG02273.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 NA18950.hp1 NA18952.hp1 NA18979.hp2 NA18999.hp2 NA19003.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0035 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0005t0001g0102	19	169	0.1124	42	c.50 others(53): Show c.5054_*5055insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4745		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134605	C C	CAGGGTCA others(35): Show CAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18964.hp2 others(3): Show HG00544.hp2 HG02040.hp2 NA18964.hp2 NA18978.hp1 NA19056.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0312 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0312	6	254	0.0236	42	c.51 others(53): Show c.5114_*5115insAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGG TCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4805		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134605	C C	CAGGGTCA others(35): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG02015.hp2 others(25): Show HG00438.hp2 HG00639.hp1 HG02015.hp2 HG02165.hp1 HG03486.hp1 HG03927.hp2 NA18747.hp2 NA18943.hp1 NA18951.hp1 NA18965.hp2 NA18966.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18998.hp1 NA19005.hp1 NA19054.hp2 NA19055.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0013 a0001c0014 others(3): Show a0001c0002 a0001c0013 a0001c0014 a0001c0019 a0001c0031 a0003c0004	a0001c0002t0002 a0001c0013t0002 a0001c0014t0002 others(3): Show a0001c0002t0002 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0031t0002 a0003c0004t0004	a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 others(21): Show a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0021 a0001c0002t0002g0256 a0001c0002t0002g0268 a0001c0002t0002g0280 a0001c0002t0002g0283 a0001c0002t0002g0287 a0001c0002t0002g0293 a0001c0002t0002g0313 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0013t0002g0272 a0001c0014t0002g0007 a0001c0014t0002g0319 a0001c0019t0002g0020 a0001c0031t0002g0296 a0003c0004t0004g0099 a0003c0004t0004g0205 a0003c0004t0004g0209	28	276	0.1014	42	c.51 others(53): Show c.5114_*5115insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4805		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134633	G G	GTCAGGTT others(35): Show GTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0213 a0003c0004t0014g0213	1	295	0.0034	42	c.51 others(53): Show c.5142_*5143insTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAG GGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4833		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134671	C C	CAGGGTGA others(35): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0254 a0001c0012t0001g0254	1	208	0.0048	42	c.51 others(53): Show c.5180_*5181insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4871		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(35): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0119 a0001c0004t0001g0119	1	235	0.0043	42	c.18 others(53): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGG TCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134467	G G	GAGGGTCA others(35): Show GAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0150 a0001c0006t0001g0150	1	134	0.0075	42	c.19 others(53): Show c.1915_*1916insAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT TTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1620		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134467	G G	GAGGGTCA others(35): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG01884.hp2 others(14): Show HG00558.hp1 HG00733.hp2 HG01884.hp2 HG02135.hp2 HG02258.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp1 HG03540.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18977.hp2 NA19068.hp2 NA19070.hp2 NA19090.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0015 a0001c0022 others(4): Show a0001c0001 a0001c0015 a0001c0022 a0003c0016 a0006c0028 a0006c0056 a0007c0030	a0001c0001t0001 a0001c0015t0002 a0001c0022t0001 others(4): Show a0001c0001t0001 a0001c0015t0002 a0001c0022t0001 a0003c0016t0001 a0006c0028t0001 a0006c0056t0001 a0007c0030t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0015t0002g0324 a0001c0015t0002g0325 a0001c0022t0001g0235 a0003c0016t0001g0199 a0006c0028t0001g0098 a0006c0056t0001g0099 a0007c0030t0002g0095 a0007c0030t0002g0096	17	150	0.1133	42	c.19 others(53): Show c.1915_*1916insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1620		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134491	C C	CAGGGTGA others(35): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0212 a0004c0005t0004g0212	1	314	0.0032	42	c.19 others(53): Show c.1939_*1940insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1644		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134545	G G	GAGGGTCA others(35): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01169.hp2 HG01433.hp2 others(13): Show HG01099.hp1 HG01169.hp2 HG01433.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02165.hp2 HG02273.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 NA18950.hp1 NA18952.hp1 NA18979.hp2 NA19003.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0035 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0004t0001g0103 a0001c0006t0001g0166	16	168	0.0952	42	c.19 others(53): Show c.1993_*1994insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1698		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134605	C C	CAGGGTCA others(35): Show CAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18964.hp2 others(1): Show HG00544.hp2 HG02040.hp2 NA18964.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0001 a0001c0002t0002g0016	4	248	0.0161	42	c.20 others(53): Show c.2053_*2054insAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGG TCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1758		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134605	C C	CAGGGTCA others(35): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG02015.hp2 others(25): Show HG00438.hp2 HG00639.hp1 HG02015.hp2 HG02165.hp1 HG03486.hp1 HG03927.hp2 NA18747.hp2 NA18943.hp1 NA18951.hp1 NA18965.hp2 NA18966.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18998.hp1 NA19005.hp1 NA19054.hp2 NA19055.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0024 a0001c0033 others(2): Show a0001c0002 a0001c0024 a0001c0033 a0001c0050 a0004c0005	a0001c0002t0002 a0001c0002t0014 a0001c0024t0002 others(3): Show a0001c0002t0002 a0001c0002t0014 a0001c0024t0002 a0001c0033t0002 a0001c0050t0002 a0004c0005t0001	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 others(21): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0021 a0001c0002t0002g0255 a0001c0002t0002g0267 a0001c0002t0002g0270 a0001c0002t0002g0278 a0001c0002t0002g0281 a0001c0002t0002g0286 a0001c0002t0002g0292 a0001c0002t0002g0312 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0327 a0001c0002t0014g0326 a0001c0024t0002g0005 a0001c0024t0002g0318 a0001c0033t0002g0020 a0001c0050t0002g0297 a0004c0005t0001g0100 a0004c0005t0001g0203 a0004c0005t0001g0207	28	272	0.1029	42	c.20 others(53): Show c.2053_*2054insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1758		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134633	G G	GTCAGGTT others(35): Show GTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0210 a0004c0005t0001g0210	1	290	0.0034	42	c.20 others(53): Show c.2081_*2082insTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAG GGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1786		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134671	C C	CAGGGTGA others(35): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0253 a0001c0022t0001g0253	1	204	0.0049	42	c.21 others(53): Show c.2119_*2120insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1824		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135805	C C	CCCCCTCC others(35): Show CCCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0098 a0006c0028t0001g0098	1	219	0.0046	42	c.32 others(53): Show c.3253_*3254insCCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCC CCAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2958		chr21	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	129	0.0078	42	c.-11 others(53): Show c.-1118_-1117insAAAAAAAAAAAATATATATATATATATATATATA TATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(35): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	129	0.0078	42	c.-11 others(53): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATAGATA others(35): Show GATAGATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0149 a0002c0001t0009g0149	1	178	0.0056	42	c.78 others(53): Show c.7837_*7838insATATATATATATATATATATATATATATATATAT ATATCTAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	199	0.0050	42	c.510 others(61): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18970.hp1 NA19088.hp1 HG00735.hp2 NA18970.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0001g0196	3	26	0.1154	42	c.462 others(61): Show c.462+62916_462+62917insATATATATATATATATATATATATAT ATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02572.hp2 HG02615.hp2 others(2): Show HG01192.hp1 HG02572.hp2 HG02615.hp2 HG02965.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0231	5	109	0.0459	42	c.463 others(61): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(35): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02300.hp1 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0178 a0001c0001t0003g0002 a0001c0001t0003g0178	2	41	0.0488	42	c.44 others(53): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COPE_chr19_18894514_18924387	18902775	A A	AAGGAAGG others(35): Show AAGGAAGGAAAGGAAGGAAAGGAAGGAAAGGAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	322	0.0031	42	c.735 others(57): Show c.735+492_735+493insCTTCCTTTCCTTCCTTTCCTTCCTTTCCTT CCTTTCCTTCCT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0122 a0004c0006t0001g0142 a0004c0006t0001g0122 a0004c0006t0001g0142	2	147	0.0136	42	c.735 others(57): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTCTTT CTTTCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar

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