Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL5A3_chr19_9954561_10015504	9976387	T T	TTGGGATT others(11): Show TTGGGATTGACTCCGATTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01069.hp2 others(28): Show HG00609.hp2 HG00621.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18949.hp1 NA18954.hp2 NA18963.hp1 NA18984.hp1 NA18998.hp1 NA18999.hp1 NA19010.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA20300.hp2 NA20905.hp2	a0009 a0010 a0035 others(5): Show a0009 a0010 a0035 a0042 a0048 a0055 a0074 a0076	a0009c0007 a0009c0048 a0010c0015 others(9): Show a0009c0007 a0009c0048 a0010c0015 a0010c0044 a0010c0052 a0010c0140 a0035c0047 a0042c0059 a0048c0137 a0055c0116 a0074c0094 a0076c0143	a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 others(16): Show a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0052t0001 a0010c0052t0010 a0010c0140t0001 a0035c0047t0001 a0042c0059t0001 a0048c0137t0002 a0055c0116t0002 a0074c0094t0001 a0076c0143t0010	a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 others(28): Show a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 a0009c0007t0001g0231 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0009c0048t0001g0234 a0009c0048t0001g0238 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0010c0044t0002g0268 a0010c0044t0021g0340 a0010c0052t0001g0102 a0010c0052t0010g0333 a0010c0140t0001g0063 a0035c0047t0001g0275 a0035c0047t0001g0276 a0042c0059t0001g0187 a0048c0137t0002g0060 a0055c0116t0002g0112 a0074c0094t0001g0028 a0076c0143t0010g0409	31	412	0.0752	18	c.334 others(35): Show c.3342+153_3342+170dupGAATCGGAGTCAATCCCA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	45/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983521	A A	AAATAAAG others(11): Show AAATAAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0003 a0011c0006t0003	a0011c0006t0003g0174 a0011c0006t0003g0174	1	412	0.0024	18	c.240 others(37): Show c.2407-1404_2407-1403insCTTTCTTTCTTCTTTATT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981646	T T	TCCCCCTC others(11): Show TCCCCCTCCCCCTCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	128	0.0078	18	c.-20 others(27): Show c.-205_-204insCCCCCTCCCCCTCCCGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		123		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981685	T T	TCCCGCCC others(11): Show TCCCGCCCCTCTCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG02258.hp1 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0120 a0002c0002t0008g0118 a0002c0002t0001g0120 a0002c0002t0008g0118	2	128	0.0156	18	c.-16 others(27): Show c.-166_-165insCCCGCCCCTCTCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		84		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(11): Show TAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0030 a0002c0003t0003g0030	1	372	0.0027	18	c.49 others(29): Show c.4904_*4905insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134467	G G	GAGGGTCA others(11): Show GAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00609.hp1 others(86): Show HG00140.hp1 HG00558.hp2 HG00609.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02896.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0001c0006 others(10): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0023 a0001c0024 a0001c0029 a0002c0003 a0003c0004 a0005c0015 a0006c0037 a0006c0038	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(11): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0006 a0001c0009t0001 a0001c0011t0001 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0002c0003t0003 a0003c0004t0001 a0005c0015t0001 a0006c0037t0001 a0006c0038t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(80): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0337 a0001c0005t0001g0005 a0001c0005t0001g0036 a0001c0005t0001g0104 a0001c0005t0001g0110 a0001c0005t0001g0112 a0001c0005t0001g0158 a0001c0005t0001g0165 a0001c0005t0001g0171 a0001c0005t0001g0190 a0001c0005t0001g0264 a0001c0005t0002g0177 a0001c0006t0006g0239 a0001c0009t0001g0111 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0011t0001g0336 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0029t0001g0143 a0002c0003t0003g0092 a0003c0004t0001g0312 a0005c0015t0001g0082 a0006c0037t0001g0088 a0006c0038t0001g0089	89	372	0.2393	18	c.49 others(29): Show c.4976_*4977insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4667		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134545	G G	GAGGGTCA others(11): Show GAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp1 others(67): Show HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02622.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0005 a0001c0010 others(8): Show a0001c0001 a0001c0005 a0001c0010 a0001c0011 a0001c0020 a0001c0023 a0001c0024 a0001c0029 a0002c0003 a0003c0004 a0006c0037	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(9): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0010t0001 a0001c0011t0001 a0001c0020t0001 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0002c0003t0003 a0003c0004t0001 a0006c0037t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0005t0001g0110 a0001c0005t0001g0118 a0001c0005t0001g0165 a0001c0005t0002g0177 a0001c0010t0001g0172 a0001c0010t0001g0191 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0020t0001g0181 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0029t0001g0143 a0002c0003t0003g0092 a0003c0004t0001g0312 a0006c0037t0001g0088	70	372	0.1882	18	c.50 others(29): Show c.5054_*5055insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4745		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134545	G G	GAGGGTGA others(11): Show GAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA19070.hp2 NA19090.hp1 NA18972.hp1 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0187 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0187	3	372	0.0081	18	c.50 others(29): Show c.5054_*5055insAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4745		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTGA others(11): Show GAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01255.hp2 others(16): Show HG00438.hp1 HG00621.hp1 HG01255.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0039 a0002c0040 a0002c0003 a0002c0039 a0002c0040	a0002c0003t0003 a0002c0039t0003 a0002c0040t0003 a0002c0003t0003 a0002c0039t0003 a0002c0040t0003	a0002c0003t0003g0021 a0002c0003t0003g0023 a0002c0003t0003g0024 others(16): Show a0002c0003t0003g0021 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0051 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0062 a0002c0003t0003g0072 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0079 a0002c0003t0003g0081 a0002c0003t0003g0084 a0002c0003t0003g0085 a0002c0003t0003g0231 a0002c0039t0003g0061 a0002c0040t0003g0230	19	372	0.0511	18	c.50 others(29): Show c.5060_*5061insAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134647	G G	GAGGGTCA others(11): Show GAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0210 a0003c0004t0006g0210	1	372	0.0027	18	c.51 others(29): Show c.5156_*5157insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4847		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134671	C C	CAGGGTGA others(11): Show CAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0240 a0001c0012t0001g0240	1	372	0.0027	18	c.51 others(29): Show c.5180_*5181insAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4871		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGGTGA others(11): Show CAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0070 a0002c0003t0003g0070	1	372	0.0027	18	c.51 others(29): Show c.5186_*5187insAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(11): Show TAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	364	0.0028	18	c.18 others(29): Show c.1843_*1844insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134467	G G	GAGGGTCA others(11): Show GAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00609.hp1 others(83): Show HG00140.hp1 HG00558.hp2 HG00609.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0001 a0001c0004 a0001c0006 others(18): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0025 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0048 a0002c0003 a0003c0010 a0009c0058 a0009c0059 a0011c0053	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(21): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0011t0001 a0001c0014t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0025t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0048t0001 a0002c0003t0001 a0003c0010t0001 a0009c0058t0001 a0009c0059t0001 a0011c0053t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 others(81): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0214 a0001c0001t0001g0243 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0004t0001g0007 a0001c0004t0001g0037 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0186 a0001c0004t0001g0261 a0001c0006t0001g0002 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0006t0001g0242 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0006t0010g0164 a0001c0011t0001g0111 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0019t0001g0333 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0025t0001g0235 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0039t0001g0281 a0001c0040t0001g0008 a0001c0041t0001g0128 a0001c0048t0001g0144 a0002c0003t0001g0094 a0003c0010t0001g0310 a0009c0058t0001g0090 a0009c0059t0001g0091 a0011c0053t0001g0084	86	364	0.2363	18	c.19 others(29): Show c.1915_*1916insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1620		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134545	G G	GAGGGTCA others(11): Show GAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp1 others(66): Show HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02622.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0004 a0001c0006 others(13): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0040 a0001c0048 a0002c0003 a0003c0010 a0009c0058	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(13): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0040t0001 a0001c0048t0001 a0002c0003t0001 a0003c0010t0001 a0009c0058t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0033 others(66): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0214 a0001c0001t0001g0243 a0001c0004t0001g0110 a0001c0004t0001g0118 a0001c0004t0001g0162 a0001c0004t0001g0174 a0001c0006t0001g0002 a0001c0006t0001g0151 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0006t0001g0242 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0018t0001g0169 a0001c0018t0001g0187 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0034t0001g0178 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0040t0001g0008 a0001c0048t0001g0144 a0002c0003t0001g0094 a0003c0010t0001g0310 a0009c0058t0001g0090	69	364	0.1896	18	c.19 others(29): Show c.1993_*1994insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1698		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134545	G G	GAGGGTGA others(11): Show GAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19090.hp1 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	2	364	0.0055	18	c.19 others(29): Show c.1993_*1994insAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1698		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTGA others(11): Show GAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01255.hp2 others(16): Show HG00438.hp1 HG00621.hp1 HG01255.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0061 a0002c0062 a0002c0003 a0002c0061 a0002c0062	a0002c0003t0001 a0002c0061t0001 a0002c0062t0001 a0002c0003t0001 a0002c0061t0001 a0002c0062t0001	a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 others(16): Show a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0064 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0227 a0002c0061t0001g0063 a0002c0062t0001g0226	19	364	0.0522	18	c.19 others(29): Show c.1999_*2000insAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134647	G G	GAGGGTCA others(11): Show GAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0206 a0004c0005t0004g0206	1	364	0.0028	18	c.20 others(29): Show c.2095_*2096insAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1800		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134671	C C	CAGGGTGA others(11): Show CAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0236 a0001c0022t0001g0236	1	364	0.0028	18	c.21 others(29): Show c.2119_*2120insAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1824		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGGTGA others(11): Show CAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0072	1	364	0.0028	18	c.21 others(29): Show c.2125_*2126insAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG01981.hp1 others(2): Show HG01123.hp1 HG01496.hp1 HG01981.hp1 NA18954.hp1 NA19009.hp2	a0002 a0002	a0002c0001 a0002c0092 a0002c0001 a0002c0092	a0002c0001t0001 a0002c0092t0002 a0002c0001t0001 a0002c0092t0002	a0002c0001t0001g0249 a0002c0001t0001g0259 a0002c0001t0001g0298 others(2): Show a0002c0001t0001g0249 a0002c0001t0001g0259 a0002c0001t0001g0298 a0002c0001t0001g0301 a0002c0092t0002g0257	5	322	0.0155	18	c.932 others(37): Show c.9328+1362_9328+1379dupATATATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02071.hp2 HG02258.hp1 others(7): Show HG01943.hp1 HG02071.hp2 HG02258.hp1 NA18952.hp1 NA18983.hp1 NA19057.hp1 NA19063.hp1 NA19068.hp1 NA19079.hp1 NA20905.hp2	a0003 a0004 a0008 others(2): Show a0003 a0004 a0008 a0011 a0022	a0003c0005 a0003c0015 a0004c0003 others(5): Show a0003c0005 a0003c0015 a0004c0003 a0004c0006 a0004c0140 a0008c0010 a0011c0069 a0022c0078	a0003c0005t0003 a0003c0015t0003 a0004c0003t0002 others(5): Show a0003c0005t0003 a0003c0015t0003 a0004c0003t0002 a0004c0006t0002 a0004c0140t0002 a0008c0010t0001 a0011c0069t0002 a0022c0078t0001	a0003c0005t0003g0059 a0003c0015t0003g0209 a0004c0003t0002g0002 others(6): Show a0003c0005t0003g0059 a0003c0015t0003g0209 a0004c0003t0002g0002 a0004c0006t0002g0038 a0004c0006t0002g0299 a0004c0140t0002g0205 a0008c0010t0001g0217 a0011c0069t0002g0187 a0022c0078t0001g0247	10	322	0.0311	18	c.932 others(37): Show c.9328+1332_9328+1333insCATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362252	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG01433.hp2 others(15): Show HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02083.hp1 HG02155.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03831.hp2 NA18952.hp1 NA19002.hp1 NA19068.hp1	a0005 a0008 a0010 others(6): Show a0005 a0008 a0010 a0012 a0013 a0015 a0020 a0054 a0065	a0005c0006 a0008c0010 a0008c0026 others(7): Show a0005c0006 a0008c0010 a0008c0026 a0010c0007 a0012c0011 a0013c0075 a0015c0015 a0020c0023 a0054c0091 a0065c0060	a0005c0006t0007 a0008c0010t0001 a0008c0026t0009 others(9): Show a0005c0006t0007 a0008c0010t0001 a0008c0026t0009 a0010c0007t0001 a0010c0007t0009 a0012c0011t0002 a0013c0075t0016 a0015c0015t0009 a0020c0023t0005 a0020c0023t0012 a0054c0091t0015 a0065c0060t0005	a0005c0006t0007g0007 a0008c0010t0001g0169 a0008c0026t0009g0164 others(14): Show a0005c0006t0007g0007 a0008c0010t0001g0169 a0008c0026t0009g0164 a0008c0026t0009g0165 a0010c0007t0001g0163 a0010c0007t0001g0167 a0010c0007t0009g0162 a0010c0007t0009g0166 a0012c0011t0002g0202 a0012c0011t0002g0203 a0013c0075t0016g0012 a0015c0015t0009g0168 a0020c0023t0005g0058 a0020c0023t0012g0029 a0020c0023t0012g0030 a0054c0091t0015g0031 a0065c0060t0005g0042	18	292	0.0616	18	c.-28 others(37): Show c.-28-11357_-28-11340dupCTCTCTCTCTCTCTCTCT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01081.hp2 others(29): Show HG00438.hp1 HG00735.hp2 HG01081.hp2 HG01167.hp1 HG01346.hp2 HG01515.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02896.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1 HG04204.hp1 NA18980.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19056.hp2 NA19065.hp2 NA19070.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0011 a0018 a0019 a0021 a0022 a0023 a0024 a0036 a0037 a0044 a0045 a0075	a0001c0001 a0002c0002 a0003c0004 others(17): Show a0001c0001 a0002c0002 a0003c0004 a0003c0025 a0004c0003 a0007c0008 a0009c0009 a0010c0007 a0011c0012 a0018c0018 a0019c0017 a0021c0039 a0022c0024 a0023c0021 a0024c0022 a0036c0030 a0037c0032 a0044c0105 a0045c0077 a0075c0067	a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 others(18): Show a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0003c0004t0011 a0003c0025t0002 a0004c0003t0001 a0007c0008t0003 a0009c0009t0002 a0010c0007t0009 a0011c0012t0002 a0018c0018t0005 a0019c0017t0003 a0021c0039t0001 a0022c0024t0002 a0023c0021t0006 a0024c0022t0001 a0036c0030t0002 a0037c0032t0005 a0044c0105t0006 a0045c0077t0001 a0075c0067t0001	a0001c0001t0002g0256 a0001c0001t0002g0265 a0002c0002t0001g0004 others(28): Show a0001c0001t0002g0256 a0001c0001t0002g0265 a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0123 a0002c0002t0001g0131 a0002c0002t0001g0133 a0003c0004t0001g0018 a0003c0004t0001g0019 a0003c0004t0001g0179 a0003c0004t0011g0073 a0003c0025t0002g0257 a0004c0003t0001g0138 a0007c0008t0003g0065 a0007c0008t0003g0070 a0009c0009t0002g0094 a0009c0009t0002g0282 a0010c0007t0009g0166 a0011c0012t0002g0204 a0018c0018t0005g0053 a0019c0017t0003g0279 a0021c0039t0001g0122 a0022c0024t0002g0102 a0023c0021t0006g0080 a0024c0022t0001g0156 a0024c0022t0001g0157 a0036c0030t0002g0212 a0037c0032t0005g0057 a0044c0105t0006g0214 a0045c0077t0001g0176 a0075c0067t0001g0159	32	292	0.1096	18	c.781 others(35): Show c.7819+916_7819+933dupTATATATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531054	A A	AGTCTCTC others(11): Show AGTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0004 a0004c0029t0004	a0004c0029t0004g0236 a0004c0029t0004g0236	1	264	0.0038	18	c.-32 others(37): Show c.-32+13657_-32+13658insGTCTCTCTCTCTCTCTCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531061	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0003 a0019c0021t0003	a0019c0021t0003g0198 a0019c0021t0003g0198	1	264	0.0038	18	c.-32 others(37): Show c.-32+13676_-32+13693dupCTCTCTCTCTCTCTCTCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130611205	A A	ACTGCTCT others(11): Show ACTGCTCTGCATTAGCACT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0004 a0007c0040t0004	a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0040t0004g0234 a0007c0040t0004g0235	2	264	0.0076	18	c.481 others(35): Show c.4815+496_4815+513dupTGCTCTGCATTAGCACTC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637097	T T	TCCCCCTC others(11): Show TCCCCCTCCCCTTCTCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(27): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01255.hp1 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02083.hp2 HG02257.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18977.hp1 NA18982.hp1 NA18988.hp1 NA19005.hp2 NA19058.hp1 NA19070.hp2 NA19087.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0006 a0009 a0030 a0043 a0044 a0049	a0002c0002 a0003c0010 a0004c0022 others(7): Show a0002c0002 a0003c0010 a0004c0022 a0006c0007 a0006c0063 a0009c0005 a0030c0043 a0043c0046 a0044c0052 a0049c0057	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0016 a0003c0010t0003 a0003c0010t0009 a0004c0022t0001 a0006c0007t0001 a0006c0007t0007 a0006c0063t0023 a0009c0005t0006 a0030c0043t0003 a0043c0046t0003 a0044c0052t0005 a0049c0057t0004	a0002c0002t0001g0013 a0002c0002t0001g0124 a0002c0002t0002g0041 others(27): Show a0002c0002t0001g0013 a0002c0002t0001g0124 a0002c0002t0002g0041 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0134 a0002c0002t0003g0162 a0002c0002t0003g0186 a0002c0002t0005g0042 a0002c0002t0005g0070 a0002c0002t0005g0076 a0002c0002t0016g0050 a0003c0010t0003g0261 a0003c0010t0009g0251 a0003c0010t0009g0252 a0003c0010t0009g0253 a0004c0022t0001g0010 a0006c0007t0001g0123 a0006c0007t0007g0092 a0006c0007t0007g0093 a0006c0063t0023g0168 a0009c0005t0006g0073 a0030c0043t0003g0143 a0043c0046t0003g0024 a0044c0052t0005g0060 a0049c0057t0004g0091	30	264	0.1136	18	c.509 others(37): Show c.5091+1337_5091+1338insCCCCTCCCCTTCTCTCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637101	T T	TCCCTCCC others(11): Show TCCCTCCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 NA18982.hp2 others(1): Show HG03490.hp2 HG03492.hp2 NA18982.hp2 NA19002.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0049 a0015c0036 a0001c0001 a0002c0049 a0015c0036	a0001c0001t0001 a0002c0049t0003 a0015c0036t0008 a0001c0001t0001 a0002c0049t0003 a0015c0036t0008	a0001c0001t0001g0188 a0002c0049t0003g0189 a0015c0036t0008g0001 a0001c0001t0001g0188 a0002c0049t0003g0189 a0015c0036t0008g0001	4	264	0.0152	18	c.509 others(37): Show c.5091+1341_5091+1358dupCCCTCCCCCTCCCCCTCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773835	A A	ATTATATA others(11): Show ATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	262	0.0038	18	c.-3- others(35): Show c.-3-16844_-3-16843insTATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02129.hp1 HG00735.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0074 a0001c0001t0004g0012 a0001c0001t0004g0074	2	262	0.0076	18	c.-3- others(35): Show c.-3-16842_-3-16841insATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	262	0.0038	18	c.-3- others(35): Show c.-3-16842_-3-16841insATATATATATATATTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp2 HG03471.hp1 HG02080.hp2 HG02129.hp2 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0008 a0004c0009 a0002c0008 a0004c0009	a0002c0008t0005 a0004c0009t0001 a0002c0008t0005 a0004c0009t0001	a0002c0008t0005g0332 a0004c0009t0001g0319 a0004c0009t0001g0320 a0002c0008t0005g0332 a0004c0009t0001g0319 a0004c0009t0001g0320	3	362	0.0083	18	c.250 others(37): Show c.2504-1433_2504-1416dupTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAATTATA others(11): Show AAATTATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	438	0.0023	18	c.-39 others(29): Show c.-3926_-3925insATATATATATATATAATT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(11): Show TATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19077.hp1 NA18954.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0114 a0002c0002t0001g0013 a0002c0002t0001g0114	2	438	0.0046	18	c.-39 others(29): Show c.-3962_-3961insTTTTATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	388	0.0026	18	c.148 others(35): Show c.148+2201_148+2202insAAAAAAAATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(11): Show AAAAAAAATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	388	0.0026	18	c.148 others(35): Show c.148+2201_148+2202insAAAAAATAAATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	388	0.0026	18	c.148 others(35): Show c.148+2201_148+2202insAAAAAATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp2 NA19066.hp2 HG01255.hp1 HG02630.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0138 a0001c0001t0002g0257 a0001c0001t0001g0072 a0001c0001t0002g0138 a0001c0001t0002g0257	3	388	0.0077	18	c.148 others(35): Show c.148+2201_148+2202insAAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	388	0.0026	18	c.148 others(35): Show c.148+2215_148+2232dupATATATATATATATATAT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	388	0.0026	18	c.292 others(33): Show c.292+378_292+379insGAGAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18974.hp2 NA18943.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0025 a0001c0001t0003g0019 a0001c0001t0003g0025	2	388	0.0052	18	c.292 others(33): Show c.292+378_292+379insGAGAGAGAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119112788	T T	TAAAAATC others(11): Show TAAAAATCTAGATCTGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0002t0004 a0001c0003t0004 a0001c0006t0001 a0001c0007t0003 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(270): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0167 a0001c0001t0003g0240 a0001c0001t0003g0259 a0001c0001t0003g0342 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0180 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0216 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0005g0341 a0001c0001t0005g0370 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0007g0010 a0001c0001t0007g0063 a0001c0001t0007g0201 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0229 a0001c0001t0007g0234 a0001c0001t0008g0074 a0001c0001t0008g0116 a0001c0001t0008g0366 a0001c0001t0008g0368 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0010g0295 a0001c0001t0010g0324 a0001c0001t0011g0035 a0001c0001t0011g0040 a0001c0001t0012g0221 a0001c0001t0013g0310 a0001c0001t0014g0331 a0001c0001t0017g0088 a0001c0001t0018g0339 a0001c0001t0019g0073 a0001c0001t0021g0367 a0001c0001t0022g0262 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0162 a0001c0002t0004g0168 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0236 a0001c0003t0004g0159 a0001c0003t0004g0206 a0001c0003t0004g0214 a0001c0003t0004g0215 a0001c0003t0004g0220 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0006t0001g0070 a0001c0007t0003g0200 a0003c0005t0001g0161 a0003c0005t0001g0188	291	388	0.7500	18	c.65 others(29): Show c.6597_*6598insAAAAATCTAGATCTGATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding		4334		chr8	TogoVar
COLEC11_chr2_3590112_3649644	3592283	C C	CGGAGAGG others(11): Show CGGAGAGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0197 a0002c0003t0001g0197	1	378	0.0027	18	c.-29 others(29): Show c.-2912_-2911insGGAGAGGGAGAGGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2828		chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(11): Show GATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG01496.hp1 others(1): Show HG00140.hp1 HG01261.hp2 HG01496.hp1 HG03490.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0002 a0001c0004 a0002c0001 a0003c0002	a0001c0004t0005 a0001c0004t0175 a0002c0001t0141 others(1): Show a0001c0004t0005 a0001c0004t0175 a0002c0001t0141 a0003c0002t0116	a0001c0004t0005g0137 a0001c0004t0175g0095 a0002c0001t0141g0178 others(1): Show a0001c0004t0005g0137 a0001c0004t0175g0095 a0002c0001t0141g0178 a0003c0002t0116g0020	4	366	0.0109	18	c.78 others(29): Show c.7837_*7838insATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	319331	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0107 a0004c0006t0108 a0004c0006t0107 a0004c0006t0108	a0004c0006t0107g0348 a0004c0006t0108g0347 a0004c0006t0107g0348 a0004c0006t0108g0347	2	366	0.0055	18	c.71 others(27): Show c.713_*714insATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	713		chr18	TogoVar
COLEC12_chr18_311737_505701	319335	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0118 a0003c0002t0118	a0003c0002t0118g0103 a0003c0002t0118g0103	1	366	0.0027	18	c.70 others(27): Show c.709_*710insATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	709		chr18	TogoVar
COLEC12_chr18_311737_505701	339535	G G	GCTGGATT others(11): Show GCTGGATTAGTATAAAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp2 others(21): Show HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01975.hp1 HG03471.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18975.hp2 NA18997.hp2 NA19066.hp2 NA19070.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0008 a0003c0002 a0001c0004 a0001c0008 a0003c0002	a0001c0004t0005 a0001c0004t0024 a0001c0004t0036 others(14): Show a0001c0004t0005 a0001c0004t0024 a0001c0004t0036 a0001c0004t0037 a0001c0004t0038 a0001c0004t0039 a0001c0004t0051 a0001c0004t0059 a0001c0004t0148 a0001c0004t0155 a0001c0004t0157 a0001c0004t0168 a0001c0004t0225 a0001c0004t0243 a0001c0008t0017 a0001c0008t0146 a0003c0002t0011	a0001c0004t0005g0014 a0001c0004t0005g0137 a0001c0004t0005g0223 others(21): Show a0001c0004t0005g0014 a0001c0004t0005g0137 a0001c0004t0005g0223 a0001c0004t0024g0017 a0001c0004t0036g0271 a0001c0004t0036g0315 a0001c0004t0037g0314 a0001c0004t0038g0324 a0001c0004t0039g0173 a0001c0004t0039g0322 a0001c0004t0051g0006 a0001c0004t0059g0155 a0001c0004t0148g0096 a0001c0004t0155g0135 a0001c0004t0157g0212 a0001c0004t0168g0257 a0001c0004t0225g0143 a0001c0004t0243g0275 a0001c0008t0017g0262 a0001c0008t0017g0350 a0001c0008t0017g0351 a0001c0008t0146g0317 a0003c0002t0011g0032 a0003c0002t0011g0291	24	366	0.0656	18	c.132 others(37): Show c.1328-4306_1328-4305insGTTTTTATACTAATCCAG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	5/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442002	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0212 a0003c0002t0212	a0003c0002t0212g0152 a0003c0002t0212g0152	1	366	0.0027	18	c.58+ others(35): Show c.58+38687_58+38704dupGTGTGTGTGTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442002	T T	TACACACA others(11): Show TACACACACAGACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA21309.hp1 HG01891.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0077 a0002c0001t0136 a0001c0005t0077 a0002c0001t0136	a0001c0005t0077g0304 a0002c0001t0136g0305 a0001c0005t0077g0304 a0002c0001t0136g0305	2	366	0.0055	18	c.58+ others(35): Show c.58+38704_58+38705insGTGTGTGTCTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar

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