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
COL25A1_chr4_108803725_109307658	109083448	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp2 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0116 a0001c0001t0002g0120	2	29	0.0690	-15	c.368 others(34): Show c.368-33284_368-33270delAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101362485	CGGAAGAC others(8): Show CGGAAGACTCGCATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0066 a0002c0003t0001g0066	1	172	0.0058	-15	c.-54 others(24): Show c.-547_-533delGGAAGACTCGCATTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		389		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387757	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02698.hp1 HG02698.hp2 others(2): Show HG01081.hp1 HG02698.hp1 HG02698.hp2 HG04199.hp1 HG04199.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0006 a0007c0016 a0001c0002 a0002c0006 a0007c0016	a0001c0002t0006 a0001c0002t0016 a0002c0006t0004 others(1): Show a0001c0002t0006 a0001c0002t0016 a0002c0006t0004 a0007c0016t0004	a0001c0002t0006g0003 a0001c0002t0016g0029 a0002c0006t0004g0042 others(2): Show a0001c0002t0006g0003 a0001c0002t0016g0029 a0002c0006t0004g0042 a0002c0006t0004g0043 a0007c0016t0004g0034	5	171	0.0292	-15	c.158 others(34): Show c.158+24568_158+24582delATATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387759	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG01346.hp2 others(21): Show HG00597.hp1 HG00609.hp1 HG01346.hp2 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02280.hp2 HG03195.hp1 HG03669.hp2 HG03704.hp2 NA18906.hp2 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18985.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0002c0003 a0002c0006 a0002c0007	a0001c0001t0009 a0001c0002t0003 a0001c0002t0018 others(7): Show a0001c0001t0009 a0001c0002t0003 a0001c0002t0018 a0001c0005t0002 a0001c0009t0003 a0001c0012t0010 a0002c0003t0001 a0002c0006t0004 a0002c0006t0021 a0002c0007t0004	a0001c0001t0009g0118 a0001c0002t0003g0030 a0001c0002t0003g0047 others(21): Show a0001c0001t0009g0118 a0001c0002t0003g0030 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0018g0044 a0001c0005t0002g0119 a0001c0009t0003g0025 a0001c0012t0010g0002 a0002c0003t0001g0117 a0002c0006t0004g0015 a0002c0006t0004g0031 a0002c0006t0004g0032 a0002c0006t0004g0041 a0002c0006t0004g0055 a0002c0006t0021g0016 a0002c0007t0004g0017 a0002c0007t0004g0046	24	166	0.1446	-15	c.158 others(34): Show c.158+24570_158+24584delATATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387761	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01070.hp2 others(5): Show HG00280.hp1 HG00558.hp1 HG01070.hp2 HG01243.hp1 HG02602.hp2 HG06807.hp2 NA19080.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0009 a0001c0013 a0002c0006 others(2): Show a0001c0009 a0001c0013 a0002c0006 a0002c0007 a0005c0015	a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 others(3): Show a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 a0002c0006t0004 a0002c0007t0004 a0005c0015t0013	a0001c0009t0006g0018 a0001c0009t0013g0013 a0001c0013t0010g0026 others(5): Show a0001c0009t0006g0018 a0001c0009t0013g0013 a0001c0013t0010g0026 a0002c0006t0004g0010 a0002c0006t0004g0012 a0002c0007t0004g0019 a0002c0007t0004g0053 a0005c0015t0013g0035	8	171	0.0468	-15	c.158 others(34): Show c.158+24572_158+24586delATATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387763	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0033 a0001c0002t0006g0033	1	166	0.0060	-15	c.158 others(34): Show c.158+24574_158+24588delATATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101517798	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0053 a0002c0007t0004g0053	1	44	0.0227	-15	c.386 others(34): Show c.386-15265_386-15251delTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7522806	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0129 a0014c0018t0002g0129	1	10	0.1000	-15	c.703 others(30): Show c.703-860_703-846delTTTTTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	4/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188997014	TATATATA others(8): Show TATATATATATGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(150): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0006 a0004c0008 others(5): Show a0001c0001 a0001c0006 a0004c0008 a0005c0011 a0006c0009 a0007c0010 a0009c0015 a0010c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0006t0003 a0004c0008t0001 a0005c0011t0001 a0006c0009t0005 a0007c0010t0001 a0009c0015t0001 a0010c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0116 a0001c0001t0003g0190 a0001c0001t0003g0260 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0011g0011 a0001c0001t0012g0174 a0001c0006t0003g0005 a0001c0006t0003g0093 a0001c0006t0003g0095 a0001c0006t0003g0096 a0001c0006t0003g0117 a0004c0008t0001g0170 a0004c0008t0001g0201 a0005c0011t0001g0001 a0005c0011t0001g0071 a0006c0009t0005g0133 a0006c0009t0005g0134 a0007c0010t0001g0263 a0007c0010t0001g0265 a0009c0015t0001g0168 a0010c0017t0001g0105	153	190	0.8053	-15	c.176 others(30): Show c.1762-74_1762-60delTATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007151	TATAGATA others(8): Show TATAGATAGATGATAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	372	0.0027	-15	c.325 others(32): Show c.3255+172_3255+186delGATAGATAGATAGAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110227631	ACCCTGAA others(8): Show ACCCTGAAATGGCCTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0120 a0001c0013t0001g0120	1	342	0.0029	-15	c.145 others(34): Show c.145-13631_145-13617delAAGGCCATTTCAGGG	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252615	GTATAATT others(8): Show GTATAATTGTATATAT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp2 HG01928.hp2 HG01978.hp2	a0001 a0002 a0001 a0002	a0001c0036 a0002c0015 a0001c0036 a0002c0015	a0001c0036t0003 a0002c0015t0013 a0001c0036t0003 a0002c0015t0013	a0001c0036t0003g0063 a0002c0015t0013g0310 a0001c0036t0003g0063 a0002c0015t0013g0310	2	231	0.0087	-15	c.85- others(30): Show c.85-9896_85-9882delATATATACAATTATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110394988	AAAGATAG others(8): Show AAAGATAGGGTGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04184.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0003 a0003c0010t0004 a0001c0001t0003 a0003c0010t0004	a0001c0001t0003g0135 a0003c0010t0004g0002 a0001c0001t0003g0135 a0003c0010t0004g0002	3	370	0.0081	-15	c.181 others(34): Show c.181-29744_181-29730delAGATAGGGTGCAGCA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227184891	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0262 a0002c0004t0018g0262	1	149	0.0067	-15	c.87+ others(32): Show c.87+20092_87+20106delTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227218497	ATACTGCA others(8): Show ATACTGCATTTTTTAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0077 a0009c0008t0001g0077	1	342	0.0029	-15	c.88- others(32): Show c.88-19468_88-19454delCTGCATTTTTTATTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227222151	AATAATAA others(8): Show AATAATAATAATAATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01943.hp2 others(2): Show HG00735.hp1 HG01256.hp2 HG01943.hp2 HG02071.hp2 HG03704.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0002 a0007c0006 a0001c0001 a0003c0002 a0007c0006	a0001c0001t0001 a0003c0002t0003 a0007c0006t0005 a0001c0001t0001 a0003c0002t0003 a0007c0006t0005	a0001c0001t0001g0105 a0001c0001t0001g0186 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0186 a0001c0001t0001g0221 a0003c0002t0003g0153 a0007c0006t0005g0122	5	342	0.0146	-15	c.88- others(32): Show c.88-15811_88-15797delAATAATAATGATAAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227222157	AATAATAA others(8): Show AATAATAATGATAATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG03540.hp1 others(5): Show HG02145.hp1 HG02895.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp1 NA19030.hp1 NA19240.hp1 NA21309.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0018	a0002c0004 a0002c0007 a0003c0002 others(3): Show a0002c0004 a0002c0007 a0003c0002 a0006c0016 a0006c0031 a0018c0028	a0002c0004t0006 a0002c0007t0001 a0003c0002t0004 others(4): Show a0002c0004t0006 a0002c0007t0001 a0003c0002t0004 a0006c0016t0006 a0006c0016t0018 a0006c0031t0006 a0018c0028t0001	a0002c0004t0006g0234 a0002c0007t0001g0059 a0002c0007t0001g0068 others(5): Show a0002c0004t0006g0234 a0002c0007t0001g0059 a0002c0007t0001g0068 a0003c0002t0004g0277 a0006c0016t0006g0256 a0006c0016t0018g0036 a0006c0031t0006g0081 a0018c0028t0001g0013	8	342	0.0234	-15	c.88- others(32): Show c.88-15803_88-15789delTGATAATGATAATAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227291578	AACAAAAA others(8): Show AACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03491.hp1 HG00423.hp2 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0003 a0001c0001t0002 a0003c0002t0003	a0001c0001t0002g0285 a0003c0002t0003g0264 a0001c0001t0002g0285 a0003c0002t0003g0264	2	342	0.0058	-15	c.321 others(32): Show c.3210+694_3210+708delCAAAAAAAAAAAACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	37/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041701	AGAGAAGG others(8): Show AGAGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0221 a0004c0004t0020g0221	1	282	0.0035	-15	c.350 others(32): Show c.3505+432_3505+446delCCTTCCTTCCTTCTC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227142740	AGTGAGAC others(8): Show AGTGAGACCCTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0170 a0003c0003t0030g0170	1	282	0.0035	-15	c.114 others(32): Show c.114+1761_114+1775delGAGACAGGGTCTCAC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	3/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108502258	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	196	0.0051	-15	c.82- others(32): Show c.82-37462_82-37448delGTTTTGTTTTGTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526660	CTTCTTTC others(8): Show CTTCTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG02723.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0031 a0002c0002t0001g0035	2	209	0.0096	-15	c.82- others(32): Show c.82-13084_82-13070delTCTTTCTTTCTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108573448	ACTGAGAT others(8): Show ACTGAGATGGCCTAAT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0115 a0003c0004t0001g0115	1	267	0.0037	-15	c.466 others(30): Show c.466-123_466-109delGAGATGGCCTAATCT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	8/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108698347	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	195	0.0051	-15	c.19 others(26): Show c.1970_*1984delTTTGTTTTGTTTTGT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding		803		chrX	TogoVar
COL5A1_chr9_134636803_134849843	134655083	GGTGTGTA others(8): Show GGTGTGTAGGGCTGGT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG04199.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0001 a0001c0008t0003 a0001c0015t0052 a0001c0002t0001 a0001c0008t0003 a0001c0015t0052	a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016 a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016	3	270	0.0111	-15	c.109 others(34): Show c.109+12802_109+12816delTGTGTGTAGGGCTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669235	TCCTTCCC others(8): Show TCCTTCCCTTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0018g0029 a0001c0004t0018g0208	2	116	0.0172	-15	c.110 others(34): Show c.110-21633_110-21619delTCCCTTCCCTTCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685606	TCATCCAT others(8): Show TCATCCATCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(38): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0022 a0001c0024 a0001c0027 a0001c0028 a0001c0031 a0001c0033 a0001c0036 a0001c0039 a0001c0046 a0001c0052 a0001c0057 a0001c0058 a0001c0060 a0001c0061 a0002c0013 a0002c0017 a0002c0041 a0002c0042 a0003c0020 a0003c0021 a0003c0038 a0003c0059 a0005c0040 a0006c0062 a0007c0037 a0009c0030 a0010c0066 a0012c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(77): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0024 a0001c0001t0027 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0025 a0001c0003t0036 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0033 a0001c0005t0003 a0001c0005t0022 a0001c0005t0054 a0001c0006t0048 a0001c0007t0014 a0001c0007t0015 a0001c0008t0001 a0001c0008t0003 a0001c0008t0011 a0001c0008t0034 a0001c0010t0003 a0001c0011t0001 a0001c0011t0003 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0014t0002 a0001c0015t0002 a0001c0015t0052 a0001c0022t0002 a0001c0024t0001 a0001c0027t0001 a0001c0028t0038 a0001c0031t0006 a0001c0033t0006 a0001c0036t0035 a0001c0039t0004 a0001c0046t0001 a0001c0052t0020 a0001c0057t0002 a0001c0058t0002 a0001c0060t0004 a0001c0061t0013 a0002c0013t0003 a0002c0017t0003 a0002c0041t0002 a0002c0042t0002 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040 a0005c0040t0009 a0006c0062t0011 a0007c0037t0001 a0009c0030t0001 a0010c0066t0001 a0012c0054t0002	a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0125 others(137): Show a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0220 a0001c0001t0002g0245 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0056 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0006g0110 a0001c0001t0006g0129 a0001c0001t0007g0248 a0001c0001t0010g0098 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0027g0210 a0001c0001t0037g0054 a0001c0001t0059g0095 a0001c0002t0001g0018 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0114 a0001c0002t0001g0128 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0252 a0001c0002t0002g0030 a0001c0002t0002g0057 a0001c0002t0002g0077 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0050 a0001c0002t0005g0060 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0016g0237 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0123 a0001c0003t0001g0153 a0001c0003t0001g0219 a0001c0003t0001g0222 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0014g0247 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0036g0052 a0001c0003t0049g0158 a0001c0004t0001g0013 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0002g0053 a0001c0004t0002g0132 a0001c0004t0002g0172 a0001c0004t0004g0089 a0001c0004t0004g0224 a0001c0004t0033g0131 a0001c0005t0003g0265 a0001c0005t0022g0086 a0001c0005t0054g0167 a0001c0006t0048g0047 a0001c0007t0014g0044 a0001c0007t0015g0200 a0001c0008t0001g0087 a0001c0008t0001g0116 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0010t0003g0068 a0001c0011t0001g0193 a0001c0011t0003g0143 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0085 a0001c0014t0002g0161 a0001c0015t0002g0055 a0001c0015t0052g0016 a0001c0022t0002g0159 a0001c0024t0001g0207 a0001c0027t0001g0130 a0001c0028t0038g0138 a0001c0031t0006g0048 a0001c0033t0006g0192 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0046t0001g0239 a0001c0052t0020g0199 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0060t0004g0240 a0001c0061t0013g0178 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0002c0041t0002g0164 a0002c0042t0002g0234 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0194 a0005c0040t0009g0191 a0006c0062t0011g0026 a0007c0037t0001g0058 a0009c0030t0001g0137 a0010c0066t0001g0235 a0012c0054t0002g0141	140	270	0.5185	-15	c.110 others(32): Show c.110-5279_110-5265delCCACCATCCATCCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134704182	TGGGTTTG others(8): Show TGGGTTTGCATCCTGG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	270	0.0037	-15	c.654 others(32): Show c.654+2850_654+2864delGGGTTTGCATCCTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134724856	ATGAACCA others(8): Show ATGAACCAGGCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03017.hp1 NA21309.hp2 HG02055.hp1 HG03017.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0038 a0003c0059 a0001c0003 a0003c0038 a0003c0059	a0001c0003t0008 a0003c0038t0001 a0003c0059t0040 a0001c0003t0008 a0003c0038t0001 a0003c0059t0040	a0001c0003t0008g0186 a0003c0038t0001g0136 a0003c0059t0040g0194 a0001c0003t0008g0186 a0003c0038t0001g0136 a0003c0059t0040g0194	3	270	0.0111	-15	c.655 others(32): Show c.655-2397_655-2383delAGGTGAACCAGGCTC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760310	ACACACAT others(8): Show ACACACATGCACACAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0053 a0014c0053	a0014c0053t0029 a0014c0053t0029	a0014c0053t0029g0134 a0014c0053t0029g0134	1	270	0.0037	-15	c.193 others(34): Show c.1936-1599_1936-1585delCACACATGCACACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134827351	GCAGGGGT others(8): Show GCAGGGGTCCCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0078 a0001c0003t0008g0078	1	270	0.0037	-15	c.506 others(34): Show c.5067+1449_5067+1463delAGGGGTCCCCTCCCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189111016	GTAGAATT others(8): Show GTAGAATTCTATTTGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show HG02145.hp2 HG02280.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0124 a0001c0001t0001g0191	8	246	0.0325	-15	c.98- others(28): Show c.98-582_98-568delTCAAATAGAATTCTA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01175.hp1 others(23): Show HG00423.hp1 HG00597.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG02004.hp2 HG02056.hp2 HG02738.hp1 HG02738.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp1 NA18948.hp2 NA18956.hp1 NA18956.hp2 NA18965.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19079.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0016 a0020 a0040 a0043 a0055 a0066 a0068 a0072	a0001c0016 a0002c0002 a0002c0020 others(14): Show a0001c0016 a0002c0002 a0002c0020 a0002c0041 a0002c0053 a0002c0139 a0004c0010 a0004c0013 a0004c0113 a0016c0036 a0020c0028 a0040c0109 a0043c0141 a0055c0133 a0066c0128 a0068c0068 a0072c0071	a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 others(18): Show a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0041t0002 a0002c0053t0001 a0002c0139t0002 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0113t0001 a0016c0036t0001 a0020c0028t0001 a0040c0109t0004 a0043c0141t0002 a0055c0133t0001 a0066c0128t0001 a0068c0068t0003 a0072c0071t0004	a0001c0016t0001g0119 a0002c0002t0001g0071 a0002c0002t0002g0329 others(23): Show a0001c0016t0001g0119 a0002c0002t0001g0071 a0002c0002t0002g0329 a0002c0002t0002g0352 a0002c0002t0002g0360 a0002c0002t0005g0062 a0002c0020t0001g0107 a0002c0020t0002g0098 a0002c0041t0002g0014 a0002c0053t0001g0321 a0002c0053t0001g0387 a0002c0139t0002g0068 a0004c0010t0004g0012 a0004c0010t0004g0165 a0004c0010t0023g0013 a0004c0013t0004g0313 a0004c0113t0001g0185 a0016c0036t0001g0123 a0016c0036t0001g0124 a0020c0028t0001g0193 a0040c0109t0004g0083 a0043c0141t0002g0067 a0055c0133t0001g0358 a0066c0128t0001g0353 a0068c0068t0003g0192 a0072c0071t0004g0161	26	38	0.6842	-15	c.478 others(34): Show c.4782+1445_4782+1459delTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980068	TGGAGGGA others(8): Show TGGAGGGATCACCTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	126	0.0079	-15	c.-17 others(26): Show c.-1782_-1768delGGAGGGATCACCTGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1701		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987999	CGGGAGTC others(8): Show CGGGAGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0030 a0002c0002t0004g0030	1	126	0.0079	-15	c.804 others(30): Show c.804+349_804+363delAGTCCAGATGGAGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988086	GGACGTCG others(8): Show GGACGTCGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0030 a0002c0002t0004g0030	1	126	0.0079	-15	c.804 others(30): Show c.804+435_804+449delCGTCGGGGCTCCAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988089	CGTCGGGG others(8): Show CGTCGGGGCTCCAGAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0033	1	110	0.0091	-15	c.804 others(30): Show c.804+437_804+451delTCGGGGCTCCAGATG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988116	CGGGAGTC others(8): Show CGGGAGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0124	1	125	0.0080	-15	c.804 others(30): Show c.804+466_804+480delAGTCCAGATGGAGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135849	TCCCCAGC others(8): Show TCCCCAGCCTCCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02886.hp2 others(4): Show HG02257.hp2 HG02559.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0013 a0001c0007 a0002c0013	a0001c0007t0003 a0002c0013t0003 a0001c0007t0003 a0002c0013t0003	a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(4): Show a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 a0002c0013t0003g0068 a0002c0013t0003g0070	7	359	0.0195	-15	c.32 others(26): Show c.3298_*3312delCCCCAGCCTCCCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3002		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19043.hp1 NA19079.hp2 HG01099.hp1 NA19043.hp1 NA19079.hp2	a0010 a0032 a0067 a0010 a0032 a0067	a0010c0091 a0032c0112 a0067c0046 a0010c0091 a0032c0112 a0067c0046	a0010c0091t0002 a0032c0112t0001 a0067c0046t0001 a0010c0091t0002 a0032c0112t0001 a0067c0046t0001	a0010c0091t0002g0060 a0032c0112t0001g0141 a0067c0046t0001g0248 a0010c0091t0002g0060 a0032c0112t0001g0141 a0067c0046t0001g0248	3	43	0.0698	-15	c.766 others(32): Show c.7668+821_7668+835delTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130590284	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp1 HG02572.hp2 NA19240.hp1	a0007 a0024 a0007 a0024	a0007c0017 a0024c0033 a0007c0017 a0024c0033	a0007c0017t0004 a0024c0033t0001 a0007c0017t0004 a0024c0033t0001	a0007c0017t0004g0210 a0024c0033t0001g0193 a0007c0017t0004g0210 a0024c0033t0001g0193	2	262	0.0076	-15	c.421 others(32): Show c.4219-756_4219-742delATATATATATATATA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590285	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0024 a0031 a0024 a0031	a0024c0033 a0031c0077 a0024c0033 a0031c0077	a0024c0033t0025 a0031c0077t0001 a0024c0033t0025 a0031c0077t0001	a0024c0033t0025g0192 a0031c0077t0001g0147 a0024c0033t0025g0192 a0031c0077t0001g0147	2	262	0.0076	-15	c.421 others(32): Show c.4219-754_4219-740delATATATATATATATT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590299	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02738.hp2 HG03041.hp1 others(3): Show HG01952.hp2 HG02738.hp2 HG03041.hp1 NA18951.hp1 NA18977.hp2 NA19068.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0006	a0003c0004 a0004c0010 a0005c0003 others(2): Show a0003c0004 a0004c0010 a0005c0003 a0006c0015 a0006c0067	a0003c0004t0001 a0004c0010t0003 a0005c0003t0006 others(2): Show a0003c0004t0001 a0004c0010t0003 a0005c0003t0006 a0006c0015t0012 a0006c0067t0029	a0003c0004t0001g0172 a0004c0010t0003g0006 a0004c0010t0003g0007 others(3): Show a0003c0004t0001g0172 a0004c0010t0003g0006 a0004c0010t0003g0007 a0005c0003t0006g0051 a0006c0015t0012g0033 a0006c0067t0029g0259	6	140	0.0429	-15	c.421 others(32): Show c.4219-726_4219-712delTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637007	CTCCCCCT others(8): Show CTCCCCCTCCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0010 a0003c0022t0001g0010	1	262	0.0038	-15	c.509 others(34): Show c.5091+1256_5091+1270delTCTCCTTCCCCCTCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36090679	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02809.hp1 HG01255.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0327 a0001c0001t0002g0041 a0001c0001t0002g0327	2	17	0.1176	-15	c.68 others(26): Show c.6875_*6889delTTTTTTTTTTTTTTT	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding		4559		chr1	TogoVar
COL9A1_chr6_70211126_70308084	70211826	GACAAGTA others(8): Show GACAAGTAGACCCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0002 a0005c0034t0002	a0005c0034t0002g0208 a0005c0034t0002g0208	1	360	0.0028	-15	c.50 others(26): Show c.5056_*5070delGCTGGGTCTACTTGT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding		4299		chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321121	AATTATAT others(8): Show AATTATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	430	0.0023	-15	c.-39 others(26): Show c.-3939_-3925delATATATATATATAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3836		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321128	TATATATA others(8): Show TATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01433.hp2 HG02055.hp1 others(5): Show HG00639.hp1 HG01433.hp2 HG02055.hp1 HG02129.hp2 NA18949.hp1 NA18951.hp1 NA18994.hp1 NA19067.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0001 a0012c0025 a0001c0002 a0002c0001 a0012c0025	a0001c0002t0001 a0002c0001t0001 a0012c0025t0001 a0001c0002t0001 a0002c0001t0001 a0012c0025t0001	a0001c0002t0001g0004 a0001c0002t0001g0047 a0001c0002t0001g0123 others(2): Show a0001c0002t0001g0004 a0001c0002t0001g0047 a0001c0002t0001g0123 a0002c0001t0001g0105 a0012c0025t0001g0122	8	351	0.0228	-15	c.-39 others(26): Show c.-3946_-3932delTATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3843		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069626	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	376	0.0027	-15	c.148 others(32): Show c.148+2199_148+2213delAAATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069630	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0089 a0001c0002t0004g0089	1	366	0.0027	-15	c.148 others(32): Show c.148+2202_148+2216delTATATATATATATAT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5			chr8	TogoVar

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