Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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No_samplehapid

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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
COL4A6_chrX_108150614_108443422	108309801	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(93): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19076.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0014	a0001c0001 a0001c0005 a0001c0009 others(6): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0019 a0002c0003 a0002c0011 a0012c0023 a0014c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0003 a0001c0009t0003 a0001c0010t0001 a0001c0019t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0011t0003 a0012c0023t0001 a0014c0020t0001	a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0044 others(93): Show a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0012 a0001c0001t0002g0071 a0001c0001t0002g0089 a0001c0001t0002g0103 a0001c0001t0002g0123 a0001c0001t0003g0039 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0041 a0001c0005t0003g0042 a0001c0009t0003g0036 a0001c0010t0001g0066 a0001c0010t0001g0070 a0001c0019t0001g0085 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0023 a0002c0003t0002g0034 a0002c0003t0002g0096 a0002c0003t0005g0030 a0002c0011t0003g0033 a0012c0023t0001g0112 a0014c0020t0001g0051	96	234	0.4103	-6	c.144 others(21): Show c.144+941_144+946delGTGTGT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343134	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02257.hp2 HG02451.hp1 others(5): Show HG01943.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0088 a0001c0001t0001g0202 a0002c0002t0002g0203 others(5): Show a0001c0001t0001g0088 a0001c0001t0001g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208	8	234	0.0342	-6	c.64- others(23): Show c.64-32312_64-32307delATATAT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343161	ATATAGT ATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	234	0.0043	-6	c.64- others(23): Show c.64-32339_64-32334delACTATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343163	ATAGTGT ATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG00140.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0219 a0002c0002t0002g0221	2	234	0.0086	-6	c.64- others(23): Show c.64-32341_64-32336delACACTA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108351431	ACTCTCT ACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp2 HG03098.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0003 a0002c0011t0003 a0001c0001t0003 a0002c0011t0003	a0001c0001t0003g0039 a0002c0011t0003g0033 a0001c0001t0003g0039 a0002c0011t0003g0033	2	234	0.0086	-6	c.64- others(23): Show c.64-40609_64-40604delAGAGAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108377941	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0022	1	234	0.0043	-6	c.63+ others(23): Show c.63+59995_63+60000delTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108382962	AAATAAT AAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG03540.hp1 others(1): Show HG02622.hp2 HG03486.hp2 HG03540.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0001 a0002c0003t0003 a0004c0006t0001	a0002c0003t0003g0031 a0004c0006t0001g0009 a0004c0006t0001g0010 others(1): Show a0002c0003t0003g0031 a0004c0006t0001g0009 a0004c0006t0001g0010 a0004c0006t0001g0011	4	234	0.0171	-6	c.63+ others(23): Show c.63+54974_63+54979delATTATT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108403233	GCTCTCT GCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04228.hp1 HG02976.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0008 a0001c0001t0003g0231 a0001c0001t0002g0008 a0001c0001t0003g0231	2	234	0.0086	-6	c.63+ others(23): Show c.63+34703_63+34708delAGAGAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108425167	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02055.hp1 others(30): Show HG01975.hp2 HG01978.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02818.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18969.hp1 NA18986.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19068.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0005 a0001c0009 others(6): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0002c0003 a0002c0011 a0002c0024 a0005c0016 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0009t0003 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0011t0003 a0002c0024t0008 a0005c0016t0001 a0006c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0153 others(30): Show a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0153 a0001c0001t0003g0039 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0040 a0001c0005t0003g0041 a0001c0005t0003g0042 a0001c0009t0003g0036 a0002c0002t0002g0218 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0023 a0002c0003t0002g0032 a0002c0003t0002g0034 a0002c0003t0003g0031 a0002c0011t0003g0033 a0002c0024t0008g0035 a0005c0016t0001g0007 a0006c0007t0001g0018 a0006c0007t0001g0019	33	234	0.1410	-6	c.63+ others(23): Show c.63+12769_63+12774delCACACA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108425198	TGTGTGA TGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0030 a0002c0003t0005g0030	1	234	0.0043	-6	c.63+ others(23): Show c.63+12738_63+12743delTCACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108425727	CACACAA CACACAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0036 a0001c0009t0003g0036	1	234	0.0043	-6	c.63+ others(23): Show c.63+12209_63+12214delTTGTGT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134662142	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01255.hp1 others(4): Show HG00323.hp2 HG00642.hp2 HG01255.hp1 HG01261.hp2 HG02559.hp1 HG03017.hp1 HG03486.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0001c0033 a0001c0060 a0003c0059 a0006c0040	a0001c0001t0010 a0001c0002t0001 a0001c0011t0001 others(4): Show a0001c0001t0010 a0001c0002t0001 a0001c0011t0001 a0001c0033t0006 a0001c0060t0004 a0003c0059t0040 a0006c0040t0009	a0001c0001t0010g0098 a0001c0002t0001g0236 a0001c0011t0001g0191 others(4): Show a0001c0001t0010g0098 a0001c0002t0001g0236 a0001c0011t0001g0191 a0001c0033t0006g0190 a0001c0060t0004g0240 a0003c0059t0040g0192 a0006c0040t0009g0189	7	272	0.0257	-6	c.109 others(25): Show c.109+19862_109+19867delAAAAAA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134714638	ATGGTGG ATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03471.hp2 HG01884.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0026 a0001c0007 a0001c0026	a0001c0007t0006 a0001c0026t0006 a0001c0026t0041 a0001c0007t0006 a0001c0026t0006 a0001c0026t0041	a0001c0007t0006g0002 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0007t0006g0002 a0001c0026t0006g0101 a0001c0026t0041g0036	3	272	0.0110	-6	c.655 others(25): Show c.655-12615_655-12610delTGGTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134715977	CTGGTGG CTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG02300.hp2 others(2): Show HG01099.hp1 HG01106.hp1 HG02300.hp2 HG02572.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0003t0049	a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0001t0009g0233 others(2): Show a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0001t0009g0233 a0001c0002t0002g0074 a0001c0003t0049g0158	5	272	0.0184	-6	c.655 others(25): Show c.655-11265_655-11260delGTGGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747931	ACACATG ACACATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01106.hp1 others(1): Show HG00642.hp2 HG01099.hp1 HG01106.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0060 a0001c0001 a0001c0003 a0001c0060	a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 a0001c0060t0004	a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 others(1): Show a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 a0001c0060t0004g0240	4	272	0.0147	-6	c.149 others(25): Show c.1495-2608_1495-2603delCATGCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18522.hp2 NA18960.hp1 HG03942.hp1 NA18522.hp2 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0014 a0001c0004t0001 a0001c0002t0002 a0001c0002t0014 a0001c0004t0001	a0001c0002t0002g0021 a0001c0002t0014g0244 a0001c0004t0001g0160 a0001c0002t0002g0021 a0001c0002t0014g0244 a0001c0004t0001g0160	3	248	0.0121	-6	c.457 others(23): Show c.457-2174_457-2169delGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9959012	AACACAC AACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00673.hp2 others(54): Show HG00408.hp2 HG00423.hp2 HG00673.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18940.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp2 NA18969.hp2 NA18971.hp2 NA19000.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19079.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0006 a0007 a0011 a0013 a0014 a0021 a0024 a0025 a0027 a0029 a0039 a0041 a0045 a0047 a0056 a0063 a0075	a0001c0001 a0002c0020 a0004c0010 others(20): Show a0001c0001 a0002c0020 a0004c0010 a0004c0013 a0004c0108 a0006c0081 a0007c0021 a0007c0032 a0011c0006 a0013c0008 a0014c0012 a0021c0038 a0024c0039 a0025c0031 a0027c0054 a0029c0124 a0039c0067 a0041c0063 a0045c0071 a0047c0133 a0056c0121 a0063c0134 a0075c0091	a0001c0001t0004 a0002c0020t0001 a0004c0010t0004 others(21): Show a0001c0001t0004 a0002c0020t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0108t0004 a0006c0081t0001 a0007c0021t0008 a0007c0032t0008 a0011c0006t0006 a0013c0008t0001 a0014c0012t0001 a0021c0038t0001 a0024c0039t0014 a0025c0031t0004 a0027c0054t0013 a0029c0124t0001 a0039c0067t0002 a0041c0063t0012 a0045c0071t0004 a0047c0133t0001 a0056c0121t0001 a0063c0134t0001 a0075c0091t0004	a0001c0001t0004g0080 a0001c0001t0004g0084 a0002c0020t0001g0232 others(53): Show a0001c0001t0004g0080 a0001c0001t0004g0084 a0002c0020t0001g0232 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0108t0004g0362 a0006c0081t0001g0166 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0008g0037 a0007c0032t0008g0128 a0011c0006t0006g0189 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0021c0038t0001g0108 a0021c0038t0001g0111 a0024c0039t0014g0182 a0024c0039t0014g0192 a0025c0031t0004g0131 a0027c0054t0013g0004 a0027c0054t0013g0005 a0029c0124t0001g0217 a0039c0067t0002g0335 a0041c0063t0012g0190 a0045c0071t0004g0155 a0047c0133t0001g0367 a0056c0121t0001g0406 a0063c0134t0001g0304 a0075c0091t0004g0014	57	412	0.1384	-6	c.13 others(17): Show c.1393_*1398delGTGTGT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding		548		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02886.hp1 others(8): Show HG02451.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 NA18522.hp1 NA18906.hp1	a0006 a0007 a0014 others(4): Show a0006 a0007 a0014 a0026 a0046 a0067 a0071	a0006c0081 a0007c0021 a0007c0032 others(5): Show a0006c0081 a0007c0021 a0007c0032 a0014c0012 a0026c0056 a0046c0075 a0067c0100 a0071c0095	a0006c0081t0001 a0007c0021t0008 a0007c0032t0007 others(5): Show a0006c0081t0001 a0007c0021t0008 a0007c0032t0007 a0014c0012t0001 a0026c0056t0002 a0046c0075t0007 a0067c0100t0001 a0071c0095t0002	a0006c0081t0001g0166 a0007c0021t0008g0002 a0007c0021t0008g0393 others(7): Show a0006c0081t0001g0166 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0398 a0007c0032t0007g0114 a0014c0012t0001g0202 a0026c0056t0002g0303 a0046c0075t0007g0053 a0067c0100t0001g0038 a0071c0095t0002g0036	11	412	0.0267	-6	c.478 others(25): Show c.4782+1454_4782+1459delTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9967477	ACACACT ACACACT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(23): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00673.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02135.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18940.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18969.hp2 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19074.hp1 NA19079.hp1 NA19087.hp2	a0004 a0009 a0010 others(6): Show a0004 a0009 a0010 a0025 a0045 a0057 a0061 a0075 a0076	a0004c0010 a0004c0013 a0004c0108 others(8): Show a0004c0010 a0004c0013 a0004c0108 a0009c0007 a0010c0052 a0025c0031 a0045c0071 a0057c0141 a0061c0109 a0075c0091 a0076c0143	a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 others(13): Show a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0009c0007t0010 a0009c0007t0024 a0010c0052t0010 a0025c0031t0001 a0025c0031t0004 a0045c0071t0004 a0057c0141t0002 a0061c0109t0004 a0075c0091t0004 a0076c0143t0010	a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 others(23): Show a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0004c0108t0004g0362 a0009c0007t0010g0122 a0009c0007t0024g0109 a0010c0052t0010g0333 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0045c0071t0004g0155 a0057c0141t0002g0067 a0061c0109t0004g0081 a0075c0091t0004g0014 a0076c0143t0010g0409	26	412	0.0631	-6	c.440 others(21): Show c.4405-83_4405-78delAGTGTG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	61/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977947	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(23): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG02258.hp1 HG02451.hp1 HG02647.hp1 HG02922.hp2 HG02970.hp2 HG03704.hp1 HG04204.hp1 NA18522.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18969.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19074.hp1 NA19080.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0009 a0010 a0014 a0045 a0059 a0061 a0075	a0001c0033 a0001c0045 a0001c0142 others(12): Show a0001c0033 a0001c0045 a0001c0142 a0004c0010 a0004c0013 a0005c0029 a0006c0055 a0006c0081 a0009c0007 a0010c0052 a0014c0012 a0045c0071 a0059c0090 a0061c0109 a0075c0091	a0001c0033t0002 a0001c0045t0001 a0001c0142t0001 others(14): Show a0001c0033t0002 a0001c0045t0001 a0001c0142t0001 a0004c0010t0001 a0004c0010t0004 a0004c0013t0004 a0005c0029t0001 a0006c0055t0001 a0006c0081t0001 a0009c0007t0010 a0009c0007t0024 a0010c0052t0010 a0014c0012t0001 a0045c0071t0004 a0059c0090t0003 a0061c0109t0004 a0075c0091t0004	a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0142t0001g0284 others(23): Show a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0142t0001g0284 a0004c0010t0001g0267 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0162 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0005c0029t0001g0264 a0006c0055t0001g0399 a0006c0081t0001g0166 a0009c0007t0010g0122 a0009c0007t0024g0109 a0010c0052t0010g0333 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0045c0071t0004g0155 a0059c0090t0003g0126 a0061c0109t0004g0081 a0075c0091t0004g0014	26	412	0.0631	-6	c.301 others(23): Show c.3019-252_3019-247delATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983588	GAAAGAA GAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01106.hp2 others(13): Show HG00639.hp2 HG00741.hp2 HG01106.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02486.hp2 HG02615.hp1 HG03516.hp1 HG03688.hp2 HG03834.hp1 HG06807.hp2 NA18946.hp2 NA18955.hp1 NA18973.hp2	a0001 a0003 a0010 others(9): Show a0001 a0003 a0010 a0011 a0012 a0013 a0015 a0023 a0027 a0028 a0044 a0049	a0001c0045 a0003c0011 a0010c0140 others(10): Show a0001c0045 a0003c0011 a0010c0140 a0011c0006 a0012c0017 a0012c0025 a0013c0008 a0015c0050 a0023c0027 a0027c0054 a0028c0105 a0044c0062 a0049c0079	a0001c0045t0002 a0003c0011t0009 a0010c0140t0001 others(10): Show a0001c0045t0002 a0003c0011t0009 a0010c0140t0001 a0011c0006t0003 a0012c0017t0001 a0012c0025t0002 a0013c0008t0001 a0015c0050t0001 a0023c0027t0002 a0027c0054t0013 a0028c0105t0003 a0044c0062t0003 a0049c0079t0003	a0001c0045t0002g0032 a0003c0011t0009g0281 a0010c0140t0001g0063 others(13): Show a0001c0045t0002g0032 a0003c0011t0009g0281 a0010c0140t0001g0063 a0011c0006t0003g0188 a0012c0017t0001g0120 a0012c0025t0002g0317 a0013c0008t0001g0044 a0013c0008t0001g0048 a0013c0008t0001g0049 a0015c0050t0001g0145 a0023c0027t0002g0178 a0023c0027t0002g0198 a0027c0054t0013g0004 a0028c0105t0003g0223 a0044c0062t0003g0191 a0049c0079t0003g0338	16	412	0.0388	-6	c.240 others(25): Show c.2407-1476_2407-1471delTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983626	GAAAGAA GAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01123.hp2 others(8): Show HG00639.hp2 HG01106.hp2 HG01123.hp2 HG02615.hp1 HG02818.hp2 HG03209.hp1 NA18522.hp2 NA18906.hp1 NA19080.hp1 NA19240.hp1 NA20752.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0015 a0026 a0028	a0001c0033 a0001c0045 a0005c0070 others(5): Show a0001c0033 a0001c0045 a0005c0070 a0006c0055 a0015c0050 a0026c0056 a0026c0086 a0028c0105	a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 others(7): Show a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 a0005c0070t0002 a0006c0055t0002 a0015c0050t0001 a0015c0050t0005 a0026c0056t0002 a0026c0086t0002 a0028c0105t0003	a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 others(8): Show a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 a0005c0070t0002g0265 a0006c0055t0002g0305 a0015c0050t0001g0145 a0015c0050t0005g0222 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0028c0105t0003g0223	11	412	0.0267	-6	c.240 others(25): Show c.2407-1514_2407-1509delTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9984942	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG01106.hp2 others(17): Show HG00558.hp2 HG00639.hp2 HG01106.hp2 HG01123.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03209.hp1 NA18522.hp2 NA18906.hp1 NA19080.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0005 a0006 others(7): Show a0001 a0005 a0006 a0015 a0026 a0028 a0029 a0034 a0039 a0059	a0001c0033 a0001c0045 a0005c0070 others(10): Show a0001c0033 a0001c0045 a0005c0070 a0006c0022 a0006c0055 a0015c0050 a0026c0056 a0026c0086 a0028c0105 a0029c0124 a0034c0131 a0039c0067 a0059c0090	a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 others(13): Show a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 a0005c0070t0002 a0006c0022t0007 a0006c0022t0011 a0006c0055t0002 a0015c0050t0001 a0015c0050t0005 a0026c0056t0002 a0026c0086t0002 a0028c0105t0003 a0029c0124t0001 a0034c0131t0001 a0039c0067t0002 a0059c0090t0003	a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 others(17): Show a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 a0005c0070t0002g0265 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0006c0055t0002g0305 a0015c0050t0001g0145 a0015c0050t0005g0222 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0028c0105t0003g0223 a0029c0124t0001g0217 a0034c0131t0001g0292 a0039c0067t0002g0335 a0059c0090t0003g0126	20	412	0.0485	-6	c.240 others(23): Show c.2406+894_2406+899delAAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01123.hp1 others(15): Show HG00140.hp2 HG00741.hp1 HG01123.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp2 HG02074.hp1 HG02293.hp2 HG02965.hp2 HG03225.hp1 HG03516.hp1 HG03710.hp1 HG04115.hp1 NA18973.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0008 a0011 a0017 a0027 a0041 a0044 a0053	a0001c0001 a0001c0003 a0004c0010 others(10): Show a0001c0001 a0001c0003 a0004c0010 a0005c0005 a0008c0004 a0008c0092 a0011c0006 a0017c0026 a0017c0120 a0027c0054 a0041c0063 a0044c0062 a0053c0129	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0004c0010t0001 a0004c0010t0023 a0005c0005t0001 a0008c0004t0001 a0008c0092t0002 a0011c0006t0006 a0017c0026t0002 a0017c0120t0002 a0027c0054t0013 a0041c0063t0012 a0044c0062t0003 a0053c0129t0006	a0001c0001t0001g0320 a0001c0001t0001g0381 a0001c0001t0002g0363 others(15): Show a0001c0001t0001g0320 a0001c0001t0001g0381 a0001c0001t0002g0363 a0001c0003t0002g0300 a0001c0003t0002g0301 a0004c0010t0001g0267 a0004c0010t0023g0034 a0005c0005t0001g0071 a0008c0004t0001g0024 a0008c0092t0002g0021 a0011c0006t0006g0194 a0017c0026t0002g0401 a0017c0026t0002g0402 a0017c0120t0002g0400 a0027c0054t0013g0004 a0041c0063t0012g0190 a0044c0062t0003g0191 a0053c0129t0006g0058	18	412	0.0437	-6	c.158 others(23): Show c.1588-759_1588-754delATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10000452	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18998.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0019 a0028 a0029 a0035 a0046 a0047 a0048 a0050 a0052 a0053 a0062 a0064 a0076	a0001c0001 a0001c0016 a0001c0024 others(35): Show a0001c0001 a0001c0016 a0001c0024 a0001c0045 a0001c0089 a0001c0111 a0001c0117 a0002c0002 a0002c0034 a0002c0053 a0002c0126 a0003c0009 a0003c0125 a0004c0108 a0005c0005 a0007c0021 a0007c0032 a0008c0004 a0009c0007 a0009c0048 a0010c0015 a0012c0025 a0015c0019 a0015c0104 a0016c0036 a0019c0069 a0028c0049 a0029c0124 a0035c0047 a0046c0075 a0047c0133 a0048c0137 a0050c0115 a0052c0128 a0053c0129 a0062c0110 a0064c0076 a0076c0143	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0016t0002 a0001c0024t0001 a0001c0045t0001 a0001c0089t0001 a0001c0111t0001 a0001c0117t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0034t0002 a0002c0053t0001 a0002c0126t0001 a0003c0009t0003 a0003c0125t0003 a0004c0108t0004 a0005c0005t0001 a0007c0021t0008 a0007c0032t0007 a0007c0032t0008 a0008c0004t0001 a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0012c0025t0002 a0012c0025t0003 a0015c0019t0002 a0015c0019t0005 a0015c0104t0003 a0016c0036t0001 a0016c0036t0002 a0019c0069t0002 a0028c0049t0003 a0029c0124t0001 a0035c0047t0001 a0046c0075t0007 a0047c0133t0001 a0048c0137t0002 a0050c0115t0002 a0052c0128t0001 a0053c0129t0006 a0062c0110t0001 a0064c0076t0007 a0076c0143t0010	a0001c0001t0001g0150 a0001c0001t0001g0320 a0001c0001t0001g0321 others(92): Show a0001c0001t0001g0150 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0346 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0002g0279 a0001c0001t0002g0328 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0016t0001g0278 a0001c0016t0001g0372 a0001c0016t0002g0001 a0001c0016t0002g0366 a0001c0024t0001g0273 a0001c0024t0001g0274 a0001c0045t0001g0140 a0001c0089t0001g0225 a0001c0111t0001g0324 a0001c0117t0005g0248 a0002c0002t0001g0069 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0318 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0034t0002g0121 a0002c0053t0001g0344 a0002c0053t0001g0382 a0002c0126t0001g0118 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0395 a0003c0125t0003g0369 a0004c0108t0004g0362 a0005c0005t0001g0107 a0005c0005t0001g0177 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0007g0114 a0007c0032t0008g0037 a0008c0004t0001g0008 a0009c0007t0001g0229 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0009c0048t0001g0238 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0012c0025t0002g0317 a0012c0025t0003g0394 a0015c0019t0002g0123 a0015c0019t0005g0149 a0015c0104t0003g0241 a0016c0036t0001g0236 a0016c0036t0001g0237 a0016c0036t0002g0148 a0019c0069t0002g0334 a0028c0049t0003g0227 a0028c0049t0003g0228 a0029c0124t0001g0217 a0035c0047t0001g0275 a0035c0047t0001g0276 a0046c0075t0007g0053 a0047c0133t0001g0367 a0048c0137t0002g0060 a0050c0115t0002g0390 a0052c0128t0001g0277 a0053c0129t0006g0058 a0062c0110t0001g0326 a0064c0076t0007g0042 a0076c0143t0010g0409	97	412	0.2354	-6	c.111 others(25): Show c.1110+1066_1110+1071delAAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10009161	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(100): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02293.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19063.hp1 NA19067.hp1 NA19074.hp2 NA19081.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0014 a0015 a0019 a0027 a0030 a0031 a0039 a0046 a0047 a0049 a0060 a0061 a0076	a0001c0001 a0001c0003 a0001c0016 others(30): Show a0001c0001 a0001c0003 a0001c0016 a0001c0024 a0002c0002 a0002c0020 a0002c0053 a0003c0009 a0003c0011 a0003c0125 a0004c0013 a0004c0108 a0005c0005 a0006c0014 a0007c0051 a0009c0007 a0010c0015 a0010c0044 a0010c0052 a0012c0025 a0014c0012 a0015c0019 a0019c0069 a0027c0054 a0030c0135 a0031c0043 a0039c0067 a0046c0075 a0047c0133 a0049c0079 a0060c0123 a0061c0109 a0076c0143	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0005 a0001c0016t0001 a0001c0016t0002 a0001c0024t0001 a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 a0002c0020t0002 a0002c0053t0001 a0003c0009t0003 a0003c0011t0006 a0003c0125t0003 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0005c0005t0001 a0006c0014t0001 a0007c0051t0003 a0009c0007t0022 a0010c0015t0001 a0010c0044t0021 a0010c0052t0001 a0010c0052t0010 a0012c0025t0001 a0014c0012t0001 a0015c0019t0005 a0015c0019t0010 a0019c0069t0002 a0027c0054t0013 a0030c0135t0004 a0031c0043t0006 a0031c0043t0007 a0039c0067t0002 a0046c0075t0007 a0047c0133t0001 a0049c0079t0003 a0060c0123t0001 a0061c0109t0004 a0076c0143t0010	a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 others(99): Show a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0378 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0004g0080 a0001c0001t0004g0084 a0001c0001t0005g0092 a0001c0001t0005g0094 a0001c0003t0005g0339 a0001c0016t0001g0372 a0001c0016t0002g0001 a0001c0016t0002g0366 a0001c0024t0001g0343 a0002c0002t0001g0069 a0002c0002t0002g0078 a0002c0002t0002g0337 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0020t0001g0070 a0002c0020t0001g0105 a0002c0020t0002g0096 a0002c0053t0001g0344 a0002c0053t0001g0382 a0003c0009t0003g0077 a0003c0009t0003g0348 a0003c0009t0003g0349 a0003c0009t0003g0357 a0003c0009t0003g0385 a0003c0011t0006g0341 a0003c0125t0003g0369 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0019g0097 a0004c0108t0004g0362 a0005c0005t0001g0071 a0006c0014t0001g0331 a0006c0014t0001g0379 a0006c0014t0001g0380 a0006c0014t0001g0386 a0006c0014t0001g0387 a0007c0051t0003g0082 a0009c0007t0022g0076 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0044t0021g0340 a0010c0052t0001g0102 a0010c0052t0010g0333 a0012c0025t0001g0347 a0014c0012t0001g0332 a0015c0019t0005g0074 a0015c0019t0010g0073 a0019c0069t0002g0334 a0027c0054t0013g0005 a0030c0135t0004g0336 a0031c0043t0006g0055 a0031c0043t0007g0054 a0039c0067t0002g0335 a0046c0075t0007g0053 a0047c0133t0001g0367 a0049c0079t0003g0338 a0060c0123t0001g0388 a0061c0109t0004g0081 a0076c0143t0010g0409	103	412	0.2500	-6	c.88+ others(21): Show c.88+1131_88+1136delACACAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	1/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45977003	ATGGGGG ATGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(53): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0011 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0017 others(15): Show a0001c0001 a0001c0003 a0001c0017 a0001c0021 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0006c0011 a0008c0015 a0009c0014 a0010c0016 a0011c0019 a0017c0029 a0018c0031 a0019c0032 a0020c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0017t0003 a0001c0021t0002 a0001c0024t0003 a0001c0035t0002 a0002c0002t0004 a0002c0008t0004 a0003c0004t0001 a0003c0004t0002 a0006c0011t0002 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014 a0011c0019t0003 a0017c0029t0003 a0018c0031t0013 a0019c0032t0002 a0020c0013t0004	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0079 others(53): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0016g0100 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0015g0105 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0024t0003g0030 a0001c0035t0002g0010 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0008t0004g0032 a0003c0004t0001g0061 a0003c0004t0002g0091 a0003c0004t0002g0099 a0006c0011t0002g0110 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090 a0011c0019t0003g0114 a0017c0029t0003g0022 a0018c0031t0013g0029 a0019c0032t0002g0008 a0020c0013t0004g0018	56	128	0.4375	-6	c.-48 others(17): Show c.-4847_-4842delTGGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4766		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980698	GTCTGTC GTCTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(85): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0009 others(22): Show a0001c0001 a0001c0003 a0001c0009 a0001c0017 a0001c0021 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0004c0005 a0004c0030 a0006c0011 a0007c0036 a0008c0015 a0009c0014 a0010c0016 a0011c0019 a0012c0033 a0014c0025 a0016c0026 a0017c0029 a0018c0031 a0019c0032 a0020c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(33): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0009t0002 a0001c0017t0003 a0001c0021t0002 a0001c0024t0003 a0001c0035t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0008t0004 a0003c0004t0002 a0004c0005t0001 a0004c0030t0001 a0006c0011t0002 a0007c0036t0005 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014 a0011c0019t0003 a0012c0033t0002 a0014c0025t0001 a0016c0026t0002 a0017c0029t0003 a0018c0031t0013 a0019c0032t0002 a0020c0013t0004	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 others(85): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0011g0125 a0001c0001t0016g0100 a0001c0003t0001g0115 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0003t0015g0105 a0001c0009t0002g0048 a0001c0009t0002g0086 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0024t0003g0030 a0001c0035t0002g0010 a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0008g0117 a0002c0002t0008g0118 a0002c0002t0009g0038 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039 a0002c0008t0004g0032 a0003c0004t0002g0091 a0003c0004t0002g0099 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0030t0001g0085 a0006c0011t0002g0097 a0006c0011t0002g0110 a0007c0036t0005g0083 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090 a0011c0019t0003g0114 a0012c0033t0002g0080 a0014c0025t0001g0042 a0016c0026t0002g0116 a0017c0029t0003g0022 a0018c0031t0013g0029 a0019c0032t0002g0008 a0020c0013t0004g0018	88	128	0.6875	-6	c.-11 others(17): Show c.-1152_-1147delTCTGTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1071		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980714	CTCTCTG CTCTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(61): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02602.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0011 a0012 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0009 others(17): Show a0001c0001 a0001c0003 a0001c0009 a0001c0017 a0001c0021 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0006c0011 a0008c0015 a0009c0014 a0010c0016 a0011c0019 a0012c0033 a0017c0029 a0018c0031 a0019c0032 a0020c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0009t0002 a0001c0017t0003 a0001c0021t0002 a0001c0024t0003 a0001c0035t0002 a0002c0002t0004 a0002c0008t0004 a0003c0004t0002 a0006c0011t0002 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014 a0011c0019t0003 a0012c0033t0002 a0017c0029t0003 a0018c0031t0013 a0019c0032t0002 a0020c0013t0004	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(61): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0011g0125 a0001c0001t0016g0100 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0003t0015g0105 a0001c0009t0002g0048 a0001c0009t0002g0086 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0024t0003g0030 a0001c0035t0002g0010 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0008t0004g0032 a0003c0004t0002g0091 a0003c0004t0002g0099 a0006c0011t0002g0097 a0006c0011t0002g0110 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090 a0011c0019t0003g0114 a0012c0033t0002g0080 a0017c0029t0003g0022 a0018c0031t0013g0029 a0019c0032t0002g0008 a0020c0013t0004g0018	64	128	0.5000	-6	c.-11 others(17): Show c.-1136_-1131delTCTCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1055		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45984903	GAGAGAC GAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02809.hp2 others(4): Show HG02572.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp2 NA19043.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0003 a0001c0010 a0001c0012 others(2): Show a0001c0003 a0001c0010 a0001c0012 a0002c0002 a0015c0027	a0001c0003t0007 a0001c0010t0005 a0001c0012t0005 others(2): Show a0001c0003t0007 a0001c0010t0005 a0001c0012t0005 a0002c0002t0010 a0015c0027t0005	a0001c0003t0007g0108 a0001c0010t0005g0072 a0001c0010t0005g0075 others(4): Show a0001c0003t0007g0108 a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0002c0002t0010g0123 a0015c0027t0005g0076	7	128	0.0547	-6	c.428 others(21): Show c.428+450_428+455delGACAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46099455	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp2 others(95): Show HG00140.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01346.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02723.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0003c0004 a0003c0017 a0003c0041 a0007c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(18): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0006t0006 a0001c0006t0008 a0001c0011t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0003c0004t0001 a0003c0004t0002 a0003c0017t0002 a0003c0041t0002 a0007c0042t0002	a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 others(78): Show a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0337 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0009g0020 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0002t0009g0338 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0005t0001g0263 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0006t0008g0303 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0013t0002g0001 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0025t0002g0282 a0001c0031t0002g0299 a0003c0004t0001g0312 a0003c0004t0002g0260 a0003c0004t0002g0314 a0003c0004t0002g0328 a0003c0017t0002g0310 a0003c0017t0002g0313 a0003c0041t0002g0261 a0007c0042t0002g0287	98	372	0.2634	-6	c.-28 others(23): Show c.-28+1304_-28+1309delAAAAAA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134401	CAGGTTT CAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01981.hp2 others(4): Show HG00423.hp2 HG00597.hp1 HG01981.hp2 HG02257.hp2 NA18941.hp2 NA18944.hp1 NA18994.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0007 a0002c0003 a0003c0007	a0002c0003t0006 a0003c0007t0007 a0002c0003t0006 a0003c0007t0007	a0002c0003t0006g0065 a0003c0007t0007g0042 a0003c0007t0007g0195 others(4): Show a0002c0003t0006g0065 a0003c0007t0007g0042 a0003c0007t0007g0195 a0003c0007t0007g0196 a0003c0007t0007g0197 a0003c0007t0007g0205 a0003c0007t0007g0206	7	372	0.0188	-6	c.49 others(17): Show c.4911_*4916delAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4601		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134461	CAGGGTG CAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03710.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0233 a0001c0005t0001g0040 a0001c0005t0001g0130 others(1): Show a0001c0001t0001g0233 a0001c0005t0001g0040 a0001c0005t0001g0130 a0001c0005t0001g0157	4	372	0.0108	-6	c.49 others(17): Show c.4971_*4976delAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4661		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134491	CAGGGTG CAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00621.hp1 others(20): Show HG00099.hp2 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG01109.hp2 HG01255.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0039 a0002c0040 a0002c0003 a0002c0039 a0002c0040	a0002c0003t0003 a0002c0003t0015 a0002c0039t0003 others(1): Show a0002c0003t0003 a0002c0003t0015 a0002c0039t0003 a0002c0040t0003	a0002c0003t0003g0008 a0002c0003t0003g0021 a0002c0003t0003g0024 others(19): Show a0002c0003t0003g0008 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0051 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0062 a0002c0003t0003g0066 a0002c0003t0003g0070 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0079 a0002c0003t0003g0080 a0002c0003t0003g0081 a0002c0003t0003g0084 a0002c0003t0003g0085 a0002c0003t0003g0231 a0002c0003t0015g0071 a0002c0039t0003g0061 a0002c0040t0003g0230	23	372	0.0618	-6	c.50 others(17): Show c.5001_*5006delAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4691		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134533	TAGGGTG TAGGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01069.hp2 others(29): Show HG00099.hp2 HG00140.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG02083.hp1 HG02273.hp2 HG02602.hp1 HG02896.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03704.hp2 NA18990.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0021 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0005t0001 a0001c0006t0005 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0005 a0001c0006t0006 a0001c0009t0001 a0001c0021t0001 a0002c0003t0003 a0005c0015t0001	a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0105 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0337 a0001c0005t0001g0005 a0001c0005t0001g0036 a0001c0005t0001g0040 a0001c0005t0001g0104 a0001c0005t0001g0112 a0001c0005t0001g0157 a0001c0005t0001g0171 a0001c0005t0001g0190 a0001c0006t0005g0236 a0001c0006t0006g0239 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0021t0001g0180 a0002c0003t0003g0070 a0002c0003t0003g0228 a0005c0015t0001g0082	32	372	0.0860	-6	c.50 others(17): Show c.5043_*5048delAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4733		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134611	CAGGTTT CAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02976.hp2 HG03098.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0006 a0002c0003t0008 a0001c0006t0006 a0002c0003t0008	a0001c0006t0006g0266 a0002c0003t0008g0226 a0002c0003t0008g0227 a0001c0006t0006g0266 a0002c0003t0008g0226 a0002c0003t0008g0227	3	372	0.0081	-6	c.51 others(17): Show c.5121_*5126delAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4811		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134687	GTCAGGT GTCAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01928.hp2 others(12): Show HG01070.hp2 HG01071.hp1 HG01928.hp2 HG02055.hp1 HG02056.hp2 HG02273.hp2 HG02622.hp1 HG02647.hp1 HG03516.hp2 NA18522.hp2 NA18979.hp2 NA18999.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0023 others(2): Show a0001c0001 a0001c0005 a0001c0023 a0006c0037 a0006c0038	a0001c0001t0001 a0001c0005t0001 a0001c0023t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0023t0001 a0006c0037t0001 a0006c0038t0001	a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0107 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0005t0001g0040 a0001c0005t0001g0130 a0001c0005t0001g0157 a0001c0023t0001g0034 a0006c0037t0001g0088 a0006c0038t0001g0089	15	372	0.0403	-6	c.51 others(17): Show c.5197_*5202delTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4887		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134701	GAGGGTC GAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp2 others(13): Show HG00423.hp2 HG00597.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02965.hp2 HG06807.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0012 a0002c0003 others(1): Show a0001c0006 a0001c0012 a0002c0003 a0003c0007	a0001c0006t0005 a0001c0006t0006 a0001c0012t0001 others(4): Show a0001c0006t0005 a0001c0006t0006 a0001c0012t0001 a0002c0003t0003 a0002c0003t0006 a0003c0007t0003 a0003c0007t0007	a0001c0006t0005g0236 a0001c0006t0006g0250 a0001c0012t0001g0240 others(13): Show a0001c0006t0005g0236 a0001c0006t0006g0250 a0001c0012t0001g0240 a0001c0012t0001g0257 a0002c0003t0003g0066 a0002c0003t0003g0084 a0002c0003t0003g0228 a0002c0003t0006g0065 a0002c0003t0006g0067 a0003c0007t0003g0235 a0003c0007t0007g0042 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0197 a0003c0007t0007g0205 a0003c0007t0007g0206	16	372	0.0430	-6	c.52 others(17): Show c.5211_*5216delAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46099455	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp2 others(93): Show HG00140.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01346.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02723.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0001 a0001c0002 a0001c0006 others(14): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0001c0015 a0001c0019 a0001c0024 a0001c0033 a0001c0039 a0001c0042 a0001c0043 a0001c0050 a0003c0010 a0005c0017 a0005c0065 a0010c0066	a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 others(22): Show a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0015t0002 a0001c0019t0001 a0001c0024t0002 a0001c0033t0002 a0001c0039t0001 a0001c0042t0002 a0001c0043t0002 a0001c0050t0002 a0003c0010t0001 a0003c0010t0002 a0005c0017t0002 a0005c0065t0002 a0010c0066t0002	a0001c0001t0011g0334 a0001c0002t0001g0322 a0001c0002t0002g0001 others(79): Show a0001c0001t0011g0334 a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0007t0001g0302 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0009t0001g0021 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0335 a0001c0015t0002g0260 a0001c0015t0002g0326 a0001c0015t0002g0327 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0039t0001g0281 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0050t0002g0298 a0003c0010t0001g0310 a0003c0010t0002g0325 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0065t0002g0311 a0010c0066t0002g0283	96	364	0.2637	-6	c.-28 others(23): Show c.-28+1304_-28+1309delAAAAAA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134401	CAGGTTT CAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01981.hp2 others(4): Show HG00423.hp2 HG00597.hp1 HG01981.hp2 HG02257.hp2 NA18941.hp2 NA18944.hp1 NA18994.hp2	a0002 a0003 a0002 a0003	a0002c0013 a0003c0008 a0002c0013 a0003c0008	a0002c0013t0003 a0003c0008t0003 a0002c0013t0003 a0003c0008t0003	a0002c0013t0003g0067 a0003c0008t0003g0044 a0003c0008t0003g0191 others(4): Show a0002c0013t0003g0067 a0003c0008t0003g0044 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0201 a0003c0008t0003g0202	7	364	0.0192	-6	c.18 others(17): Show c.1850_*1855delAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1554		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134461	CAGGGTG CAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03710.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0229 a0001c0004t0001g0042 a0001c0004t0001g0131 others(1): Show a0001c0001t0001g0229 a0001c0004t0001g0042 a0001c0004t0001g0131 a0001c0004t0001g0156	4	364	0.0110	-6	c.19 others(17): Show c.1910_*1915delAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1614		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134491	CAGGGTG CAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00621.hp1 others(20): Show HG00099.hp2 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG01109.hp2 HG01255.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0061 a0002c0062 a0002c0003 a0002c0061 a0002c0062	a0002c0003t0001 a0002c0061t0001 a0002c0062t0001 a0002c0003t0001 a0002c0061t0001 a0002c0062t0001	a0002c0003t0001g0006 a0002c0003t0001g0022 a0002c0003t0001g0025 others(19): Show a0002c0003t0001g0006 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0064 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0227 a0002c0061t0001g0063 a0002c0062t0001g0226	23	364	0.0632	-6	c.19 others(17): Show c.1940_*1945delAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1644		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134533	TAGGGTG TAGGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01069.hp2 others(28): Show HG00099.hp2 HG00140.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG02083.hp1 HG02273.hp2 HG02602.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03704.hp2 NA18990.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0025 a0001c0041 a0002c0003 a0011c0053	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0004t0001 a0001c0006t0010 a0001c0011t0001 a0001c0025t0001 a0001c0041t0001 a0002c0003t0001 a0011c0053t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0043 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0004t0001g0007 a0001c0004t0001g0037 a0001c0004t0001g0042 a0001c0004t0001g0104 a0001c0004t0001g0112 a0001c0004t0001g0156 a0001c0004t0001g0168 a0001c0004t0001g0186 a0001c0006t0010g0164 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0025t0001g0232 a0001c0025t0001g0235 a0001c0041t0001g0128 a0002c0003t0001g0072 a0002c0003t0001g0224 a0011c0053t0001g0084	31	364	0.0852	-6	c.19 others(17): Show c.1982_*1987delAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1686		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134611	CAGGTTT CAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02976.hp2 HG03098.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0003 a0002c0003t0001 a0001c0007t0003 a0002c0003t0001	a0001c0007t0003g0263 a0002c0003t0001g0222 a0002c0003t0001g0223 a0001c0007t0003g0263 a0002c0003t0001g0222 a0002c0003t0001g0223	3	364	0.0082	-6	c.20 others(17): Show c.2060_*2065delAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1764		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134687	GTCAGGT GTCAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01928.hp2 others(11): Show HG01070.hp2 HG01071.hp1 HG01928.hp2 HG02055.hp1 HG02056.hp2 HG02273.hp2 HG02622.hp1 HG02647.hp1 HG03516.hp2 NA18522.hp2 NA18979.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0001c0036 others(2): Show a0001c0001 a0001c0004 a0001c0036 a0009c0058 a0009c0059	a0001c0001t0001 a0001c0004t0001 a0001c0036t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0036t0001 a0009c0058t0001 a0009c0059t0001	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0237 a0001c0004t0001g0042 a0001c0004t0001g0131 a0001c0004t0001g0156 a0001c0036t0001g0035 a0009c0058t0001g0090 a0009c0059t0001g0091	14	364	0.0385	-6	c.21 others(17): Show c.2136_*2141delTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1840		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	GAGGGTC GAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp2 others(13): Show HG00423.hp2 HG00597.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02965.hp2 HG06807.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0001c0022 a0001c0025 others(4): Show a0001c0007 a0001c0022 a0001c0025 a0002c0003 a0002c0013 a0003c0008 a0003c0016	a0001c0007t0003 a0001c0022t0001 a0001c0025t0001 others(4): Show a0001c0007t0003 a0001c0022t0001 a0001c0025t0001 a0002c0003t0001 a0002c0013t0003 a0003c0008t0003 a0003c0016t0001	a0001c0007t0003g0247 a0001c0022t0001g0236 a0001c0022t0001g0254 others(13): Show a0001c0007t0003g0247 a0001c0022t0001g0236 a0001c0022t0001g0254 a0001c0025t0001g0232 a0002c0003t0001g0068 a0002c0003t0001g0086 a0002c0003t0001g0224 a0002c0013t0003g0067 a0002c0013t0003g0069 a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0193 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0016t0001g0231	16	364	0.0440	-6	c.21 others(17): Show c.2150_*2155delAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135904	CCCAGCA CCCAGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02897.hp1 others(1): Show HG02559.hp2 HG02886.hp2 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 others(1): Show a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265	4	364	0.0110	-6	c.33 others(17): Show c.3353_*3358delCCAGCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3057		chr21	TogoVar
COL6A5_chr3_130340672_130489846	130391074	GACACAT GACACAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show HG00140.hp2 HG01169.hp2 HG01361.hp2 HG02738.hp1 HG03831.hp2 HG03834.hp2 NA19062.hp1	a0013 a0053 a0013 a0053	a0013c0016 a0013c0075 a0053c0092 a0013c0016 a0013c0075 a0053c0092	a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 others(1): Show a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0053c0092t0002	a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 others(4): Show a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0053c0092t0002g0192	7	292	0.0240	-6	c.241 others(22): Show c.2417-103_2417-98delCACATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	6/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130393067	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01109.hp2 others(11): Show HG00621.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG02165.hp2 HG02922.hp1 HG03098.hp2 HG03471.hp1 NA18952.hp1 NA19085.hp2 NA21309.hp1	a0010 a0015 a0038 others(5): Show a0010 a0015 a0038 a0057 a0073 a0074 a0078 a0079	a0010c0007 a0015c0015 a0038c0043 others(5): Show a0010c0007 a0015c0015 a0038c0043 a0057c0098 a0073c0066 a0074c0106 a0078c0062 a0079c0063	a0010c0007t0001 a0010c0007t0009 a0015c0015t0009 others(7): Show a0010c0007t0001 a0010c0007t0009 a0015c0015t0009 a0038c0043t0001 a0038c0043t0003 a0057c0098t0002 a0073c0066t0006 a0074c0106t0003 a0078c0062t0003 a0079c0063t0003	a0010c0007t0001g0105 a0010c0007t0001g0136 a0010c0007t0001g0140 others(11): Show a0010c0007t0001g0105 a0010c0007t0001g0136 a0010c0007t0001g0140 a0010c0007t0001g0167 a0010c0007t0009g0162 a0010c0007t0009g0166 a0015c0015t0009g0168 a0038c0043t0001g0183 a0038c0043t0003g0079 a0057c0098t0002g0270 a0073c0066t0006g0060 a0074c0106t0003g0078 a0078c0062t0003g0216 a0079c0063t0003g0215	14	292	0.0480	-6	c.299 others(25): Show c.2992+1318_2992+1323delTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	7/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130403708	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(52): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01943.hp2 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18955.hp2 NA18980.hp1 NA18990.hp1 NA19068.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp2 homoSapiens_chm13v2.hp1	a0004 a0006 a0007 others(15): Show a0004 a0006 a0007 a0011 a0012 a0018 a0027 a0028 a0029 a0030 a0039 a0045 a0047 a0051 a0052 a0061 a0063 a0070	a0004c0003 a0006c0005 a0007c0008 others(18): Show a0004c0003 a0006c0005 a0007c0008 a0007c0081 a0011c0012 a0012c0011 a0018c0018 a0027c0089 a0027c0090 a0028c0036 a0029c0087 a0029c0088 a0030c0035 a0039c0031 a0045c0077 a0047c0084 a0051c0085 a0052c0101 a0061c0053 a0063c0055 a0070c0070	a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 others(23): Show a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0007c0008t0003 a0007c0081t0002 a0011c0012t0001 a0011c0012t0002 a0011c0012t0003 a0012c0011t0002 a0018c0018t0001 a0018c0018t0005 a0027c0089t0002 a0027c0090t0002 a0028c0036t0003 a0029c0087t0006 a0029c0088t0014 a0030c0035t0001 a0039c0031t0006 a0045c0077t0001 a0047c0084t0002 a0051c0085t0003 a0052c0101t0003 a0061c0053t0001 a0063c0055t0001 a0070c0070t0003	a0004c0003t0001g0022 a0004c0003t0001g0026 a0004c0003t0001g0027 others(51): Show a0004c0003t0001g0022 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0138 a0004c0003t0001g0207 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0197 a0004c0003t0002g0199 a0004c0003t0002g0236 a0004c0003t0003g0087 a0006c0005t0001g0021 a0007c0008t0003g0001 a0007c0008t0003g0062 a0007c0008t0003g0063 a0007c0008t0003g0065 a0007c0008t0003g0066 a0007c0008t0003g0069 a0007c0008t0003g0070 a0007c0081t0002g0262 a0011c0012t0001g0023 a0011c0012t0002g0195 a0011c0012t0002g0204 a0011c0012t0003g0083 a0011c0012t0003g0084 a0011c0012t0003g0085 a0011c0012t0003g0089 a0012c0011t0002g0202 a0012c0011t0002g0203 a0012c0011t0002g0205 a0012c0011t0002g0206 a0012c0011t0002g0208 a0018c0018t0001g0158 a0018c0018t0005g0053 a0018c0018t0005g0054 a0018c0018t0005g0055 a0027c0089t0002g0200 a0027c0090t0002g0280 a0028c0036t0003g0075 a0028c0036t0003g0077 a0029c0087t0006g0076 a0029c0088t0014g0088 a0030c0035t0001g0217 a0030c0035t0001g0218 a0039c0031t0006g0067 a0039c0031t0006g0068 a0045c0077t0001g0176 a0047c0084t0002g0271 a0051c0085t0003g0082 a0052c0101t0003g0061 a0061c0053t0001g0175 a0063c0055t0001g0116 a0070c0070t0003g0064	55	292	0.1884	-6	c.428 others(21): Show c.4281+62_4281+67delCACACA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	13/40		INFO_REALIGN_3_PRIME	chr3	TogoVar

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