Joint Open Genome and Omics Platform (JoGo)

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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
COBL_chr7_51011212_51321809	51061950	T T	TACACACA others(13): Show TACACACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG03139.hp1 others(1): Show HG02970.hp2 HG03041.hp1 HG03139.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0015 a0002c0004 a0002c0015	a0002c0004t0006 a0002c0004t0007 a0002c0015t0006 a0002c0004t0006 a0002c0004t0007 a0002c0015t0006	a0002c0004t0006g0003 a0002c0004t0006g0081 a0002c0004t0007g0045 others(1): Show a0002c0004t0006g0003 a0002c0004t0006g0081 a0002c0004t0007g0045 a0002c0015t0006g0022	4	230	0.0174	20	c.109 others(41): Show c.1097-18259_1097-18258insGTATGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01081.hp1 others(3): Show HG00639.hp2 HG01074.hp1 HG01081.hp1 NA18979.hp2 NA18984.hp1 NA18995.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0004 a0005c0011 a0001c0003 a0002c0004 a0005c0011	a0001c0003t0001 a0001c0003t0003 a0002c0004t0001 others(1): Show a0001c0003t0001 a0001c0003t0003 a0002c0004t0001 a0005c0011t0001	a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0100 others(3): Show a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0100 a0001c0003t0003g0093 a0002c0004t0001g0119 a0005c0011t0001g0188	6	230	0.0261	20	c.109 others(41): Show c.1096+14754_1096+14773dupGTGTGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0004 a0001c0003t0001 a0001c0008t0004	a0001c0003t0001g0047 a0001c0008t0004g0106 a0001c0003t0001g0047 a0001c0008t0004g0106	2	230	0.0087	20	c.958 others(39): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51108917	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0009 a0001c0027t0009	a0001c0027t0009g0165 a0001c0027t0009g0165	1	230	0.0044	20	c.958 others(39): Show c.958-23633_958-23614dupGTGTGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51226522	T T	TTGAGTGA others(13): Show TTGAGTGAGTGAGTGAGTGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02451.hp2 others(7): Show HG01884.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG06807.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0018	a0001c0003 a0001c0010 a0001c0049 others(4): Show a0001c0003 a0001c0010 a0001c0049 a0002c0004 a0003c0001 a0007c0024 a0018c0044	a0001c0003t0001 a0001c0010t0007 a0001c0049t0001 others(5): Show a0001c0003t0001 a0001c0010t0007 a0001c0049t0001 a0002c0004t0001 a0002c0004t0007 a0003c0001t0005 a0007c0024t0001 a0018c0044t0010	a0001c0003t0001g0047 a0001c0010t0007g0011 a0001c0049t0001g0046 others(7): Show a0001c0003t0001g0047 a0001c0010t0007g0011 a0001c0049t0001g0046 a0002c0004t0001g0010 a0002c0004t0001g0183 a0002c0004t0007g0016 a0002c0004t0007g0045 a0003c0001t0005g0043 a0007c0024t0001g0042 a0018c0044t0010g0041	10	230	0.0435	20	c.42- others(35): Show c.42-6598_42-6579dupCTCACTCACTCACTCACTCA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30895053	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA19005.hp2 NA18978.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0257 a0001c0001t0002g0021 a0001c0001t0002g0257	2	478	0.0042	20	c.52 others(31): Show c.5262_*5263insAAAAAAAAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73190196	A A	AACACACA others(13): Show AACACACACAAACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02896.hp2 HG02055.hp2 HG02896.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0105 a0002c0001t0001g0106	2	428	0.0047	20	c.-28 others(31): Show c.-2874_-2873insACACACACAAACACACACAC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		2858		chr17	TogoVar
COG1_chr17_73188055_73213507	73190196	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02976.hp1 HG02145.hp2 HG02622.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0001 a0001c0004t0001 a0002c0001t0001	a0001c0004t0001g0125 a0001c0004t0001g0126 a0002c0001t0001g0027 a0001c0004t0001g0125 a0001c0004t0001g0126 a0002c0001t0001g0027	3	428	0.0070	20	c.-28 others(31): Show c.-2874_-2873insACACACACACACACACACAC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		2858		chr17	TogoVar
COG3_chr13_45459939_45541701	45508068	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0195 a0003c0006t0004g0196 a0003c0006t0004g0195 a0003c0006t0004g0196	2	342	0.0059	20	c.159 others(39): Show c.1595-1612_1595-1593dupAAAAAAAAAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513449	A A	ATATATAT others(13): Show ATATATATAATACATATAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0150 a0002c0005t0011g0150	1	342	0.0029	20	c.180 others(39): Show c.1809+1606_1809+1607insCATATAAATTATATATAATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70495397	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 NA18906.hp1 HG02886.hp2 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0015 a0001c0003t0001g0022 a0001c0003t0001g0023	3	354	0.0085	20	c.164 others(37): Show c.1647+868_1647+869insTTTTTTTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	12/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18747.hp2 NA18981.hp1 HG02809.hp2 NA18747.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0001g0007 a0001c0001t0003g0032 a0001c0001t0003g0033	3	370	0.0081	20	c.-40 others(31): Show c.-4050_-4049insTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	370	0.0027	20	c.128 others(39): Show c.1284+6641_1284+6660dupATATATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03239.hp1 NA18979.hp2 others(6): Show HG00621.hp2 HG03239.hp1 NA18979.hp2 NA18981.hp2 NA18988.hp2 NA18993.hp2 NA19064.hp2 NA19065.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 others(6): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0013g0133	9	370	0.0243	20	c.182 others(39): Show c.1826+3232_1826+3251dupAAAAAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03942.hp2 HG01099.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0121 a0002c0002t0003g0114 a0002c0002t0003g0121	2	272	0.0074	20	c.147 others(39): Show c.1475+1206_1475+1207insGCGCGCGCACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03130.hp2 NA18990.hp2 others(1): Show HG00423.hp2 HG03130.hp2 NA18990.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0111 a0002c0002t0003g0119 a0002c0002t0003g0127 others(1): Show a0002c0002t0003g0111 a0002c0002t0003g0119 a0002c0002t0003g0127 a0002c0002t0003g0129	4	272	0.0147	20	c.147 others(39): Show c.1475+1206_1475+1207insGCGCGCACACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18980.hp1 HG00735.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0034 a0001c0001t0002g0021 a0001c0001t0002g0034	2	272	0.0074	20	c.147 others(39): Show c.1475+1206_1475+1207insGCGCACACACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23449380	T T	TTAAAATA others(13): Show TTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	272	0.0037	20	c.169 others(37): Show c.169+3426_170-3420dupTTTTATTTTATTTTATTTTA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01081.hp1 others(14): Show HG00738.hp2 HG01071.hp2 HG01081.hp1 HG01256.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02622.hp1 HG02683.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0014 a0015	a0001c0002 a0001c0016 a0002c0001 others(6): Show a0001c0002 a0001c0016 a0002c0001 a0003c0003 a0003c0011 a0004c0012 a0004c0014 a0014c0038 a0015c0020	a0001c0002t0008 a0001c0016t0001 a0002c0001t0001 others(7): Show a0001c0002t0008 a0001c0016t0001 a0002c0001t0001 a0002c0001t0009 a0003c0003t0002 a0003c0011t0001 a0004c0012t0003 a0004c0014t0001 a0014c0038t0001 a0015c0020t0001	a0001c0002t0008g0027 a0001c0016t0001g0050 a0002c0001t0001g0117 others(14): Show a0001c0002t0008g0027 a0001c0016t0001g0050 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0126 a0002c0001t0001g0134 a0002c0001t0001g0139 a0002c0001t0001g0149 a0002c0001t0001g0156 a0002c0001t0009g0146 a0003c0003t0002g0157 a0003c0003t0002g0174 a0003c0011t0001g0161 a0004c0012t0003g0011 a0004c0014t0001g0047 a0014c0038t0001g0182 a0015c0020t0001g0178	17	184	0.0924	20	c.527 others(37): Show c.5275-330_5275-311dupATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102889383	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp2 HG02630.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0031 a0001c0002 a0001c0031	a0001c0002t0003 a0001c0031t0001 a0001c0002t0003 a0001c0031t0001	a0001c0002t0003g0048 a0001c0031t0001g0172 a0001c0002t0003g0048 a0001c0031t0001g0172	2	184	0.0109	20	c.446 others(35): Show c.4464+52_4464+71dupCACACACACACACACACACA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	59/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103006178	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0152	1	184	0.0054	20	c.173 others(35): Show c.1737+64_1738-58dupATTTATTTATTTATTTATTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	16/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103111839	A A	AGATAGAT others(13): Show AGATAGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0005 a0007c0015t0005	a0007c0015t0005g0112 a0007c0015t0005g0112	1	184	0.0054	20	c.-36 others(31): Show c.-3662_-3661insCATCTATCTATCTATCTATC	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding		3318		chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208150	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0039 a0006c0007t0006g0039	1	206	0.0049	20	c.-24 others(31): Show c.-2410_-2409insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2098		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208152	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0003 a0010c0009t0002g0003	1	206	0.0049	20	c.-24 others(31): Show c.-2412_-2411insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2100		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208154	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0136 a0001c0022t0001g0136	1	206	0.0049	20	c.-24 others(31): Show c.-2414_-2413insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2102		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208158	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03195.hp1 NA21309.hp2 HG02615.hp2 HG03195.hp1 NA21309.hp2	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0037 a0005c0016 a0017c0038 a0001c0037 a0005c0016 a0017c0038	a0001c0037t0003 a0005c0016t0006 a0017c0038t0005 a0001c0037t0003 a0005c0016t0006 a0017c0038t0005	a0001c0037t0003g0101 a0005c0016t0006g0028 a0017c0038t0005g0149 a0001c0037t0003g0101 a0005c0016t0006g0028 a0017c0038t0005g0149	3	206	0.0146	20	c.-24 others(31): Show c.-2418_-2417insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2106		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18948.hp2 HG00438.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0018 a0002c0002t0001g0080 a0001c0001t0001g0018 a0002c0002t0001g0080	2	206	0.0097	20	c.-24 others(31): Show c.-2420_-2419insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208162	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02895.hp2 NA18962.hp2 others(1): Show HG02071.hp2 HG02895.hp2 NA18962.hp2 NA18993.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0043 a0002c0002 others(1): Show a0001c0001 a0001c0043 a0002c0002 a0012c0025	a0001c0001t0002 a0001c0043t0007 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0043t0007 a0002c0002t0001 a0012c0025t0001	a0001c0001t0002g0091 a0001c0043t0007g0146 a0002c0002t0001g0008 others(1): Show a0001c0001t0002g0091 a0001c0043t0007g0146 a0002c0002t0001g0008 a0012c0025t0001g0012	4	206	0.0194	20	c.-24 others(31): Show c.-2422_-2421insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2110		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208164	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0066 a0002c0006t0002g0066	1	206	0.0049	20	c.-24 others(31): Show c.-2424_-2423insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2112		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208168	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	206	0.0049	20	c.-24 others(31): Show c.-2428_-2427insAAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2116		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(13): Show GAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02622.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02622.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0005 a0001c0002 a0001c0007 a0002c0005	a0001c0002t0001 a0001c0002t0009 a0001c0007t0001 others(1): Show a0001c0002t0001 a0001c0002t0009 a0001c0007t0001 a0002c0005t0001	a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 others(5): Show a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0009g0209 a0001c0007t0001g0210 a0002c0005t0001g0183	8	324	0.0247	20	c.294 others(37): Show c.294+7664_294+7665insGAGAGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69814017	A A	AGACATCT others(13): Show AGACATCTGACCCGGGACCCT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0237 a0001c0004t0003g0237	1	324	0.0031	20	c.295 others(37): Show c.295-8342_295-8323dupCCCGGGACCCTGACATCTGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69933135	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01358.hp2 HG03688.hp1 others(1): Show HG01167.hp2 HG01358.hp2 HG03688.hp1 HG03710.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0010c0030	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0010c0030t0002	a0001c0001t0001g0201 a0001c0002t0001g0324 a0001c0004t0002g0173 others(1): Show a0001c0001t0001g0201 a0001c0002t0001g0324 a0001c0004t0002g0173 a0010c0030t0002g0189	4	324	0.0124	20	c.172 others(37): Show c.1728+544_1728+563dupAAAAAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	31/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69950004	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGCATGTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG01255.hp2 others(10): Show HG00099.hp1 HG00558.hp2 HG01255.hp2 HG02027.hp2 HG02523.hp1 HG03540.hp1 HG03834.hp2 NA18939.hp1 NA18945.hp1 NA18959.hp2 NA18960.hp1 NA18982.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0031 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0202 a0001c0002t0001g0291 a0001c0002t0003g0313 a0001c0003t0001g0030 a0001c0007t0001g0180	13	324	0.0401	20	c.205 others(39): Show c.2058+2667_2058+2668insGTGTGTGCATGTGTTTGTGT	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120173564	C C	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01169.hp2 others(10): Show HG00639.hp2 HG01071.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01517.hp2 HG02257.hp2 HG02523.hp2 HG02886.hp2 HG04199.hp2 NA18968.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0005c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0013t0004 a0005c0011t0004	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0063 others(10): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0180 a0001c0003t0001g0064 a0001c0003t0002g0056 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0013t0004g0071 a0005c0011t0004g0075	13	218	0.0596	20	c.436 others(37): Show c.436+5321_436+5340dupTATCTATCTATCTATCTATC	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120184224	G G	GATTTATT others(13): Show GATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0002 a0006c0018t0002	a0006c0018t0002g0136 a0006c0018t0002g0136	1	218	0.0046	20	c.437 others(39): Show c.437-12538_437-12519dupATTTATTTATTTATTTATTT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120202989	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp1 HG01975.hp2 HG02523.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0018 a0002c0002 a0006c0018	a0002c0002t0001 a0006c0018t0001 a0002c0002t0001 a0006c0018t0001	a0002c0002t0001g0177 a0006c0018t0001g0171 a0002c0002t0001g0177 a0006c0018t0001g0171	2	218	0.0092	20	c.878 others(35): Show c.878-707_878-688dupATATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120229089	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01943.hp2 HG02071.hp2 others(6): Show HG01884.hp1 HG01943.hp2 HG02071.hp2 HG02451.hp1 HG02630.hp1 HG03195.hp2 HG03579.hp2 NA19065.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0002 a0002c0037 others(2): Show a0001c0003 a0002c0002 a0002c0037 a0003c0004 a0004c0009	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0037t0011 a0003c0004t0002 a0004c0009t0002	a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0002g0003 others(6): Show a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0002g0003 a0001c0003t0003g0088 a0002c0002t0001g0024 a0002c0002t0002g0163 a0002c0037t0011g0012 a0003c0004t0002g0160 a0004c0009t0002g0030	9	218	0.0413	20	c.219 others(37): Show c.2197+329_2197+348dupTATTTTATTTTATTTTATTT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	18/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	98950550	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp2 NA18968.hp1 others(1): Show HG03041.hp1 HG06807.hp2 NA18968.hp1 NA19080.hp1	a0001 a0013 a0047 a0001 a0013 a0047	a0001c0001 a0001c0013 a0013c0017 others(1): Show a0001c0001 a0001c0013 a0013c0017 a0047c0085	a0001c0001t0002 a0001c0013t0001 a0013c0017t0001 others(1): Show a0001c0001t0002 a0001c0013t0001 a0013c0017t0001 a0047c0085t0001	a0001c0001t0002g0167 a0001c0013t0001g0068 a0013c0017t0001g0071 others(1): Show a0001c0001t0002g0167 a0001c0013t0001g0068 a0013c0017t0001g0071 a0047c0085t0001g0175	4	310	0.0129	20	c.100 others(37): Show c.100+6324_100+6343dupTCCTTCCTTCCTTCCTTCCT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	98950590	T T	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02155.hp2 HG02735.hp2 others(3): Show HG01928.hp2 HG02155.hp2 HG02735.hp2 HG04204.hp1 NA18971.hp2 NA19009.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0045	a0001c0013 a0002c0002 a0002c0010 others(3): Show a0001c0013 a0002c0002 a0002c0010 a0004c0005 a0010c0011 a0045c0065	a0001c0013t0001 a0002c0002t0001 a0002c0010t0001 others(3): Show a0001c0013t0001 a0002c0002t0001 a0002c0010t0001 a0004c0005t0001 a0010c0011t0002 a0045c0065t0010	a0001c0013t0001g0046 a0002c0002t0001g0043 a0002c0010t0001g0021 others(3): Show a0001c0013t0001g0046 a0002c0002t0001g0043 a0002c0010t0001g0021 a0004c0005t0001g0045 a0010c0011t0002g0044 a0045c0065t0010g0048	6	310	0.0194	20	c.100 others(37): Show c.100+6343_100+6344insTCCTTCCTTCCTCCCTCCCT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	98950590	T T	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG03195.hp2 others(1): Show HG02622.hp1 HG02622.hp2 HG03195.hp2 HG03225.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0003 a0006c0007 others(1): Show a0001c0001 a0002c0003 a0006c0007 a0009c0012	a0001c0001t0002 a0002c0003t0002 a0006c0007t0001 others(1): Show a0001c0001t0002 a0002c0003t0002 a0006c0007t0001 a0009c0012t0002	a0001c0001t0002g0219 a0002c0003t0002g0224 a0006c0007t0001g0225 others(1): Show a0001c0001t0002g0219 a0002c0003t0002g0224 a0006c0007t0001g0225 a0009c0012t0002g0220	4	310	0.0129	20	c.100 others(37): Show c.100+6343_100+6344insTCCTTCCTTCCTTCCTCCCT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG02602.hp1 others(9): Show HG00733.hp2 HG01123.hp2 HG02602.hp1 HG03710.hp1 HG03710.hp2 NA18945.hp2 NA18966.hp1 NA18974.hp2 NA18979.hp1 NA19005.hp1 NA19011.hp2 NA19066.hp2	a0001 a0002 a0016 others(1): Show a0001 a0002 a0016 a0051	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0016c0062 a0051c0070	a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0016c0062t0001 a0051c0070t0001	a0001c0001t0002g0059 a0001c0013t0001g0242 a0002c0002t0001g0018 others(9): Show a0001c0001t0002g0059 a0001c0013t0001g0242 a0002c0002t0001g0018 a0002c0002t0001g0053 a0002c0002t0001g0108 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0195 a0002c0003t0002g0236 a0002c0003t0003g0147 a0016c0062t0001g0077 a0051c0070t0001g0278	12	310	0.0387	20	c.185 others(37): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18945.hp1 HG01993.hp2 NA18945.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0040 a0005c0015t0001g0163 a0005c0015t0001g0040 a0005c0015t0001g0163	2	310	0.0065	20	c.365 others(37): Show c.3652-272_3652-271insGTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03710.hp2 HG03834.hp2 others(4): Show HG03239.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 NA18966.hp1 NA19087.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0013 a0002c0002 a0007c0036 a0001c0013 a0002c0002 a0007c0036	a0001c0013t0001 a0002c0002t0001 a0007c0036t0001 a0001c0013t0001 a0002c0002t0001 a0007c0036t0001	a0001c0013t0001g0064 a0001c0013t0001g0242 a0002c0002t0001g0043 others(4): Show a0001c0013t0001g0064 a0001c0013t0001g0242 a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0108 a0002c0002t0001g0245 a0007c0036t0001g0187	7	310	0.0226	20	c.365 others(37): Show c.3652-277_3652-258dupTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707338	C C	CCTTTTCT others(13): Show CCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01123.hp2 others(24): Show HG00323.hp2 HG00438.hp2 HG01123.hp2 HG01257.hp2 HG01346.hp2 HG01515.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02148.hp1 HG02683.hp1 HG02698.hp1 NA18944.hp2 NA18947.hp2 NA18955.hp1 NA18975.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0010 a0027	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0003c0007 a0005c0043 a0010c0042 a0027c0039	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0015t0001 a0003c0007t0001 a0005c0043t0002 a0010c0042t0002 a0027c0039t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0002g0024 a0001c0001t0002g0249 a0001c0003t0002g0201 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0268 a0001c0015t0001g0198 a0003c0007t0001g0002 a0003c0007t0001g0282 a0003c0007t0001g0284 a0005c0043t0002g0212 a0010c0042t0002g0263 a0027c0039t0001g0271	27	342	0.0790	20	c.-35 others(31): Show c.-3537_-3536insAAAAGAAAAGAAAAGAAAAG	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3322		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45500565	T T	TGGGGTGT others(13): Show TGGGGTGTGGTTTGGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG03041.hp1 others(3): Show HG01070.hp2 HG01074.hp2 HG03041.hp1 HG03654.hp1 HG03942.hp1 NA18906.hp1	a0002 a0009 a0012 others(1): Show a0002 a0009 a0012 a0030	a0002c0018 a0002c0019 a0009c0024 others(2): Show a0002c0018 a0002c0019 a0009c0024 a0012c0069 a0030c0050	a0002c0018t0001 a0002c0019t0002 a0009c0024t0001 others(2): Show a0002c0018t0001 a0002c0019t0002 a0009c0024t0001 a0012c0069t0002 a0030c0050t0002	a0002c0018t0001g0011 a0002c0019t0002g0148 a0002c0019t0002g0186 others(3): Show a0002c0018t0001g0011 a0002c0019t0002g0148 a0002c0019t0002g0186 a0009c0024t0001g0084 a0012c0069t0002g0096 a0030c0050t0002g0108	6	292	0.0206	20	c.268 others(39): Show c.2683+2905_2683+2906insGGGTGTGGTTTGGTGTGTGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45506752	T T	TCCCACCT others(13): Show TCCCACCTTCCTTCTAGCATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02559.hp1 HG02630.hp1	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0009 a0011c0037t0009	a0011c0037t0009g0197 a0011c0037t0009g0198 a0011c0037t0009g0197 a0011c0037t0009g0198	2	292	0.0069	20	c.321 others(37): Show c.3216+796_3216+797insTTCTAGCATGCCCACCTTCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921395	C C	CATATATA others(13): Show CATATATATCATATATATCAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1	a0003 a0009 a0003 a0009	a0003c0010 a0009c0023 a0003c0010 a0009c0023	a0003c0010t0013 a0003c0010t0027 a0009c0023t0001 a0003c0010t0013 a0003c0010t0027 a0009c0023t0001	a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119 others(1): Show a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119 a0009c0023t0001g0052	4	182	0.0220	20	c.267 others(37): Show c.267-6508_267-6507insATCATATATATCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56129675	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19063.hp1 HG03491.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0178 a0001c0001t0009g0031 a0001c0001t0005g0178 a0001c0001t0009g0031	2	264	0.0076	20	c.154 others(39): Show c.1543-3546_1543-3527dupACACACACACACACACACAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148338	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01106.hp1 others(14): Show HG00099.hp2 HG00544.hp1 HG01106.hp1 HG01123.hp2 HG01261.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG03139.hp1 NA18979.hp1 NA18986.hp2 NA18995.hp2 NA19000.hp2 NA19065.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0007 a0009c0018 a0001c0001 a0003c0007 a0009c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0003c0007t0003 a0009c0018t0001	a0001c0001t0001g0118 a0001c0001t0001g0175 a0001c0001t0001g0208 others(14): Show a0001c0001t0001g0118 a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0093 a0001c0001t0006g0009 a0003c0007t0003g0060 a0009c0018t0001g0234	17	264	0.0644	20	c.143 others(39): Show c.1435-6375_1435-6356dupCTCTCTCTCTCTCTCTCTCT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar

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