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
COL6A1_chr21_45976770_46010048	45987841	G G	GTCCAGAT others(17): Show GTCCAGATGGAGGGGACGTCGGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 NA18906.hp1 HG02622.hp2 HG03471.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0034 a0005c0006 a0005c0034	a0005c0006t0001 a0005c0034t0001 a0005c0006t0001 a0005c0034t0001	a0005c0006t0001g0067 a0005c0006t0001g0069 a0005c0034t0001g0068 a0005c0006t0001g0067 a0005c0006t0001g0069 a0005c0034t0001g0068	3	128	0.0234	24	c.804 others(39): Show c.804+204_804+205insTCGGGGCTCCAGATGGAGGGGACG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987841	G G	GTCCAGAT others(17): Show GTCCAGATGGAGGGGATGTCGGGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	128	0.0078	24	c.804 others(39): Show c.804+202_804+203insTGTCGGGGCTCCAGATGGAGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987885	G G	GGGCTCCA others(17): Show GGGCTCCAGATGGAGGGGACGGCGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	128	0.0078	24	c.804 others(39): Show c.804+233_804+234insCTCCAGATGGAGGGGACGGCGTGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988284	G G	GTCCAGAT others(17): Show GTCCAGATGGAGGGGATGTCGGGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02630.hp1 others(3): Show HG02258.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02970.hp2 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0015 a0002c0002t0001 a0002c0002t0009 a0001c0003t0015 a0002c0002t0001 a0002c0002t0009	a0001c0003t0015g0105 a0002c0002t0001g0040 a0002c0002t0001g0050 others(3): Show a0001c0003t0015g0105 a0002c0002t0001g0040 a0002c0002t0001g0050 a0002c0002t0001g0120 a0002c0002t0009g0084 a0002c0002t0009g0122	6	128	0.0469	24	c.804 others(39): Show c.804+645_804+646insTGTCGGGGCTCCAGATGGAGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988330	G G	GTCCAGAT others(17): Show GTCCAGATGGAGGGGATGTCGGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA20805.hp1 NA20805.hp2 HG01123.hp2 NA20805.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057	3	128	0.0234	24	c.804 others(39): Show c.804+691_804+692insTGTCGGGGCTCCAGATGGAGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988416	C C	CGGCGGGG others(17): Show CGGCGGGGGTCCAGATGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0108 a0001c0003t0007g0108	1	128	0.0078	24	c.805 others(39): Show c.805-667_805-666insGCGGGGGTCCAGATGGAGGGGATG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 NA19091.hp1 HG01070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0159 a0001c0001t0001g0166	2	372	0.0054	24	c.49 others(35): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03098.hp1 NA18906.hp2 HG02559.hp1 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0057 a0001c0006t0005g0059 a0001c0006t0005g0064 a0001c0006t0005g0057 a0001c0006t0005g0059 a0001c0006t0005g0064	3	372	0.0081	24	c.49 others(35): Show c.4904_*4905insAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134443	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03195.hp2 HG03710.hp1 others(2): Show HG02083.hp2 HG03195.hp2 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0034 a0008c0036 a0002c0003 a0002c0034 a0008c0036	a0002c0003t0003 a0002c0003t0008 a0002c0034t0008 others(1): Show a0002c0003t0003 a0002c0003t0008 a0002c0034t0008 a0008c0036t0008	a0002c0003t0003g0232 a0002c0003t0008g0221 a0002c0003t0008g0223 others(2): Show a0002c0003t0003g0232 a0002c0003t0008g0221 a0002c0003t0008g0223 a0002c0034t0008g0046 a0008c0036t0008g0225	5	372	0.0134	24	c.49 others(35): Show c.4952_*4953insAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4643		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134509	G G	GAGGTTGA others(17): Show GAGGTTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0003 a0004c0016t0003	a0004c0016t0003g0096 a0004c0016t0003g0096	1	372	0.0027	24	c.50 others(35): Show c.5018_*5019insAGGTTGAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4709		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTGA others(17): Show GAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0086 a0002c0003t0016g0086	1	372	0.0027	24	c.50 others(35): Show c.5060_*5061insAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134587	T T	TAGGGTGA others(17): Show TAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02723.hp2 NA19240.hp1 others(1): Show HG02698.hp1 HG02723.hp2 NA19240.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0003 a0003c0004t0004 a0002c0003t0003 a0003c0004t0004	a0002c0003t0003g0066 a0002c0003t0003g0083 a0003c0004t0004g0211 others(1): Show a0002c0003t0003g0066 a0002c0003t0003g0083 a0003c0004t0004g0211 a0003c0004t0004g0213	4	372	0.0108	24	c.50 others(35): Show c.5096_*5097insAGGGTGAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4787		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134599	C C	CAGGTTTA others(17): Show CAGGTTTAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0078 a0002c0003t0003g0078	1	372	0.0027	24	c.51 others(35): Show c.5108_*5109insAGGTTTAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4799		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134605	C C	CAGGGTCA others(17): Show CAGGGTCAGGGTGAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02647.hp1 others(2): Show HG02055.hp1 HG02622.hp1 HG02647.hp1 HG03516.hp2 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0037 a0001c0001 a0006c0037	a0001c0001t0001 a0006c0037t0001 a0001c0001t0001 a0006c0037t0001	a0001c0001t0001g0035 a0001c0001t0001g0107 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0241 a0006c0037t0001g0088	5	372	0.0134	24	c.51 others(35): Show c.5114_*5115insAGGGTCAGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4805		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134633	G G	GTCAGGTT others(17): Show GTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00673.hp1 others(23): Show HG00423.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01975.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02615.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG03669.hp2 HG04184.hp2 NA18971.hp2 NA18980.hp1 NA18982.hp2 NA19056.hp2 NA19066.hp2 NA19082.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0025 a0003c0004 others(3): Show a0001c0002 a0001c0025 a0003c0004 a0003c0007 a0003c0017 a0004c0016	a0001c0002t0002 a0001c0002t0010 a0001c0025t0002 others(5): Show a0001c0002t0002 a0001c0002t0010 a0001c0025t0002 a0003c0004t0002 a0003c0004t0003 a0003c0007t0002 a0003c0017t0002 a0004c0016t0003	a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0258 others(20): Show a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0258 a0001c0002t0002g0272 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0293 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0327 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0025t0002g0282 a0003c0004t0002g0260 a0003c0004t0002g0314 a0003c0004t0003g0194 a0003c0007t0002g0022 a0003c0017t0002g0310 a0003c0017t0002g0313 a0004c0016t0003g0096	26	372	0.0699	24	c.51 others(35): Show c.5142_*5143insTCAGGTTTAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4833		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134665	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0216 a0003c0004t0004g0216	1	372	0.0027	24	c.51 others(35): Show c.5174_*5175insAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4865		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134671	C C	CAGGGTGA others(17): Show CAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA21309.hp2 HG01433.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0005 a0002c0003t0003 a0001c0006t0005 a0002c0003t0003	a0001c0006t0005g0236 a0002c0003t0003g0228 a0001c0006t0005g0236 a0002c0003t0003g0228	2	372	0.0054	24	c.51 others(35): Show c.5180_*5181insAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4871		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	372	0.0027	24	c.52 others(35): Show c.5204_*5205insAGGGTCAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134707	C C	CAGGGTGA others(17): Show CAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02145.hp1 others(5): Show HG00438.hp2 HG02109.hp1 HG02145.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG03453.hp2 HG03540.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0008 a0003c0004 a0003c0018 others(2): Show a0002c0008 a0003c0004 a0003c0018 a0004c0016 a0004c0035	a0002c0008t0005 a0003c0004t0003 a0003c0004t0004 others(3): Show a0002c0008t0005 a0003c0004t0003 a0003c0004t0004 a0003c0018t0003 a0004c0016t0003 a0004c0035t0003	a0002c0008t0005g0025 a0003c0004t0003g0194 a0003c0004t0004g0097 others(5): Show a0002c0008t0005g0025 a0003c0004t0003g0194 a0003c0004t0004g0097 a0003c0018t0003g0242 a0003c0018t0003g0243 a0004c0016t0003g0094 a0004c0016t0003g0096 a0004c0035t0003g0095	8	372	0.0215	24	c.52 others(35): Show c.5216_*5217insAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4907		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 NA19091.hp1 HG01070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0009 a0001c0001t0001g0163	2	364	0.0055	24	c.18 others(35): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03098.hp1 NA18906.hp2 HG02559.hp1 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0059 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0007t0005g0059 a0001c0007t0005g0061 a0001c0007t0005g0066	3	364	0.0082	24	c.18 others(35): Show c.1843_*1844insAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134443	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03195.hp1 HG03710.hp1 others(2): Show HG02083.hp2 HG03195.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0002 a0013 a0002 a0013	a0002c0003 a0002c0013 a0002c0055 others(1): Show a0002c0003 a0002c0013 a0002c0055 a0013c0057	a0002c0003t0001 a0002c0013t0001 a0002c0055t0001 others(1): Show a0002c0003t0001 a0002c0013t0001 a0002c0055t0001 a0013c0057t0001	a0002c0003t0001g0228 a0002c0013t0001g0217 a0002c0013t0001g0219 others(2): Show a0002c0003t0001g0228 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0055t0001g0048 a0013c0057t0001g0221	5	364	0.0137	24	c.18 others(35): Show c.1891_*1892insAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1596		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134509	G G	GAGGTTGA others(17): Show GAGGTTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0098 a0006c0028t0001g0098	1	364	0.0028	24	c.19 others(35): Show c.1957_*1958insAGGTTGAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1662		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTGA others(17): Show GAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0088 a0002c0003t0015g0088	1	364	0.0028	24	c.19 others(35): Show c.1999_*2000insAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134587	T T	TAGGGTGA others(17): Show TAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02723.hp2 NA19240.hp1 others(1): Show HG02698.hp1 HG02723.hp2 NA19240.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0010 a0002c0003 a0003c0010	a0002c0003t0001 a0003c0010t0001 a0002c0003t0001 a0003c0010t0001	a0002c0003t0001g0068 a0002c0003t0001g0085 a0003c0010t0001g0207 others(1): Show a0002c0003t0001g0068 a0002c0003t0001g0085 a0003c0010t0001g0207 a0003c0010t0001g0209	4	364	0.0110	24	c.20 others(35): Show c.2035_*2036insAGGGTGAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1740		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134599	C C	CAGGTTTA others(17): Show CAGGTTTAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0080 a0002c0003t0001g0080	1	364	0.0028	24	c.20 others(35): Show c.2047_*2048insAGGTTTAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1752		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134605	C C	CAGGGTCA others(17): Show CAGGGTCAGGGTGAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02647.hp1 others(2): Show HG02055.hp1 HG02622.hp1 HG02647.hp1 HG03516.hp2 NA18522.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0058 a0001c0001 a0009c0058	a0001c0001t0001 a0009c0058t0001 a0001c0001t0001 a0009c0058t0001	a0001c0001t0001g0036 a0001c0001t0001g0107 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0237 a0009c0058t0001g0090	5	364	0.0137	24	c.20 others(35): Show c.2053_*2054insAGGGTCAGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1758		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134633	G G	GTCAGGTT others(17): Show GTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00673.hp1 others(22): Show HG00423.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01975.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02615.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG03669.hp2 HG04184.hp2 NA18971.hp2 NA18980.hp1 NA18982.hp2 NA19056.hp2 NA19066.hp2 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0002 a0001c0042 a0003c0010 others(4): Show a0001c0002 a0001c0042 a0003c0010 a0003c0016 a0005c0017 a0005c0065 a0006c0028	a0001c0002t0002 a0001c0042t0002 a0003c0010t0001 others(4): Show a0001c0002t0002 a0001c0042t0002 a0003c0010t0001 a0003c0016t0002 a0005c0017t0002 a0005c0065t0002 a0006c0028t0001	a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0123 others(21): Show a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0123 a0001c0002t0002g0255 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0324 a0001c0042t0002g0295 a0003c0010t0001g0190 a0003c0016t0002g0023 a0005c0017t0002g0257 a0005c0017t0002g0312 a0005c0065t0002g0311 a0006c0028t0001g0098	25	364	0.0687	24	c.20 others(35): Show c.2081_*2082insTCAGGTTTAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1786		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134665	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0212 a0004c0005t0004g0212	1	364	0.0028	24	c.21 others(35): Show c.2113_*2114insAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1818		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134671	C C	CAGGGTGA others(17): Show CAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA21309.hp2 HG01433.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0002c0003 a0001c0025 a0002c0003	a0001c0025t0001 a0002c0003t0001 a0001c0025t0001 a0002c0003t0001	a0001c0025t0001g0232 a0002c0003t0001g0224 a0001c0025t0001g0232 a0002c0003t0001g0224	2	364	0.0055	24	c.21 others(35): Show c.2119_*2120insAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1824		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(17): Show TAGGGTCAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0188 a0001c0006t0001g0188	1	364	0.0028	24	c.21 others(35): Show c.2143_*2144insAGGGTCAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134707	C C	CAGGGTGA others(17): Show CAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02145.hp1 others(5): Show HG00438.hp2 HG02109.hp1 HG02145.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG03453.hp2 HG03540.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0012 a0003c0010 a0003c0032 others(3): Show a0002c0012 a0003c0010 a0003c0032 a0004c0005 a0006c0028 a0006c0056	a0002c0012t0001 a0003c0010t0001 a0003c0032t0001 others(3): Show a0002c0012t0001 a0003c0010t0001 a0003c0032t0001 a0004c0005t0001 a0006c0028t0001 a0006c0056t0001	a0002c0012t0001g0026 a0003c0010t0001g0190 a0003c0032t0001g0240 others(5): Show a0002c0012t0001g0026 a0003c0010t0001g0190 a0003c0032t0001g0240 a0003c0032t0001g0241 a0004c0005t0001g0099 a0006c0028t0001g0096 a0006c0028t0001g0098 a0006c0056t0001g0097	8	364	0.0220	24	c.21 others(35): Show c.2155_*2156insAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1860		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0251 a0002c0001t0001g0251	1	322	0.0031	24	c.932 others(43): Show c.9328+1356_9328+1379dupATATATATATATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0003 a0003c0015t0003	a0003c0015t0003g0084 a0003c0015t0003g0084	1	322	0.0031	24	c.932 others(43): Show c.9328+1332_9328+1333insCATATATATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130636923	T T	TCCCCTCC others(17): Show TCCCCTCCCCTTCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0003 a0012c0009t0003	a0012c0009t0003g0170 a0012c0009t0003g0170	1	264	0.0038	24	c.509 others(43): Show c.5091+1173_5091+1196dupTCCCCCTCCCCCTCCCCCTCCCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669123	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02523.hp2 NA18952.hp2 HG00597.hp1 HG02523.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0192 a0001c0001t0003g0196 a0001c0001t0034g0193 a0001c0001t0003g0192 a0001c0001t0003g0196 a0001c0001t0034g0193	3	262	0.0115	24	c.-12 others(45): Show c.-129+30460_-129+30483dupTATATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	262	0.0038	24	c.-12 others(45): Show c.-129+30483_-129+30484insTATATATATATAGAGAGAGAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	262	0.0038	24	c.-12 others(45): Show c.-129+30483_-129+30484insTATATATATATATATATAGAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(17): Show ATATTATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	262	0.0038	24	c.-3- others(41): Show c.-3-16842_-3-16841insATTATATATATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATTATATA others(17): Show ATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	262	0.0038	24	c.-3- others(41): Show c.-3-16841_-3-16840insATATATATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATAATAT others(17): Show TATAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG02809.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0236	2	262	0.0076	24	c.-3- others(41): Show c.-3-16842_-3-16841insATAATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATTATAT others(17): Show TATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02080.hp1 NA18906.hp1 others(3): Show HG01169.hp2 HG02080.hp1 NA18906.hp1 NA18973.hp1 NA18986.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0102 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0145 a0001c0001t0001g0146	6	262	0.0229	24	c.-3- others(41): Show c.-3-16842_-3-16841insATTATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	262	0.0038	24	c.-3- others(41): Show c.-3-16841_-3-16840insATATATATATATATATATATATAT	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(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 NA18982.hp1 others(1): Show HG00621.hp1 HG02135.hp1 NA18982.hp1 NA19066.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0002 a0004c0009t0001 a0004c0009t0002	a0004c0009t0001g0322 a0004c0009t0001g0323 a0004c0009t0001g0325 others(1): Show a0004c0009t0001g0322 a0004c0009t0001g0323 a0004c0009t0001g0325 a0004c0009t0002g0237	4	362	0.0111	24	c.250 others(43): Show c.2504-1439_2504-1416dupTTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0051 a0003c0008t0001g0051	1	438	0.0023	24	c.-10 others(35): Show c.-1099_-1098insATATATATATATATATATATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	438	0.0023	24	c.-11 others(35): Show c.-1118_-1117insAAAAAAAAAAAAAATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0023 a0023	a0023c0015 a0023c0015	a0023c0015t0007 a0023c0015t0007	a0023c0015t0007g0093 a0023c0015t0007g0093	1	438	0.0023	24	c.-11 others(35): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATTTTT others(17): Show ATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0065 a0009c0012t0001g0065	1	438	0.0023	24	c.-11 others(35): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62825062	G G	GGAGGCTG others(17): Show GGAGGCTGGGCTCCGGCGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG04184.hp2 NA18954.hp2 others(2): Show HG00609.hp2 HG04184.hp2 NA18954.hp2 NA18977.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0013 a0001c0003 a0001c0006 a0001c0013	a0001c0003t0001 a0001c0006t0001 a0001c0013t0002 a0001c0003t0001 a0001c0006t0001 a0001c0013t0002	a0001c0003t0001g0324 a0001c0003t0001g0348 a0001c0006t0001g0327 others(2): Show a0001c0003t0001g0324 a0001c0003t0001g0348 a0001c0006t0001g0327 a0001c0013t0002g0318 a0001c0013t0002g0322	5	412	0.0121	24	c.630 others(37): Show c.630+43_630+66dupAGGCTGGGCTCCGGCGGGAGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(17): Show AGGCTGGGCTCCGGCGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02809.hp1 HG00323.hp2 HG02809.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0025c0068 a0001c0001 a0025c0068	a0001c0001t0001 a0025c0068t0001 a0001c0001t0001 a0025c0068t0001	a0001c0001t0001g0244 a0025c0068t0001g0337 a0001c0001t0001g0244 a0025c0068t0001g0337	2	412	0.0049	24	c.630 others(39): Show c.630+156_630+179dupGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar

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