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
COL4A4_chr2_226997714_227169205	227041838	A A	AAGAAAGA others(9): Show AAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0232 a0002c0002t0026g0232	1	284	0.0035	16	c.350 others(33): Show c.3505+309_3505+310insCTTTCTTTCTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	284	0.0035	16	c.350 others(33): Show c.3505+284_3505+299dupTTCTTTCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227047731	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01169.hp2 HG01192.hp2 others(7): Show HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01515.hp1 HG02004.hp1 HG02735.hp1 HG03834.hp1 NA18946.hp1 NA18968.hp1 NA19083.hp1	a0002 a0004 a0024 others(1): Show a0002 a0004 a0024 a0031	a0002c0002 a0004c0004 a0024c0069 others(1): Show a0002c0002 a0004c0004 a0024c0069 a0031c0061	a0002c0002t0002 a0004c0004t0002 a0024c0069t0002 others(1): Show a0002c0002t0002 a0004c0004t0002 a0024c0069t0002 a0031c0061t0002	a0002c0002t0002g0009 a0002c0002t0002g0113 a0002c0002t0002g0205 others(7): Show a0002c0002t0002g0009 a0002c0002t0002g0113 a0002c0002t0002g0205 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0266 a0004c0004t0002g0042 a0004c0004t0002g0075 a0024c0069t0002g0015 a0031c0061t0002g0021	10	284	0.0352	16	c.321 others(33): Show c.3215-198_3215-183dupTGTGTGTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	34/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(12): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp1 HG01099.hp2 HG03017.hp2 HG03710.hp2 HG06807.hp2 NA18945.hp1 NA18995.hp2 NA19056.hp1 NA19082.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0016	a0002c0002 a0002c0021 a0003c0003 others(4): Show a0002c0002 a0002c0021 a0003c0003 a0003c0026 a0003c0027 a0009c0009 a0016c0065	a0002c0002t0002 a0002c0002t0005 a0002c0021t0002 others(5): Show a0002c0002t0002 a0002c0002t0005 a0002c0021t0002 a0003c0003t0003 a0003c0026t0001 a0003c0027t0003 a0009c0009t0001 a0016c0065t0005	a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0210 others(12): Show a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0210 a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0005g0215 a0002c0021t0002g0245 a0002c0021t0002g0246 a0003c0003t0003g0118 a0003c0003t0003g0228 a0003c0026t0001g0230 a0003c0027t0003g0096 a0009c0009t0001g0083 a0016c0065t0005g0150	15	284	0.0528	16	c.145 others(33): Show c.1459+264_1459+279dupATATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	269	0.0037	16	c.81+ others(33): Show c.81+33428_81+33429insATATATATATATATTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 NA18942.hp1 others(2): Show HG00280.hp1 HG01167.hp1 NA18942.hp1 NA19081.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192	5	269	0.0186	16	c.81+ others(33): Show c.81+33428_81+33429insATATATATATATTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03579.hp1 HG02056.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0238 a0001c0001t0001g0001 a0001c0001t0001g0238	2	269	0.0074	16	c.81+ others(33): Show c.81+33428_81+33429insATATATATATTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108300724	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02083.hp1 others(19): Show HG01975.hp2 HG01978.hp1 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp1 NA18984.hp1 NA18986.hp1 NA19056.hp1 NA19057.hp2 NA19085.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0007 a0001c0001 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0006c0007t0001	a0001c0001t0001g0075 a0001c0001t0001g0153 a0001c0001t0002g0012 others(19): Show a0001c0001t0001g0075 a0001c0001t0001g0153 a0001c0001t0002g0012 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0021 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0023 a0002c0003t0002g0034 a0002c0003t0005g0030 a0006c0007t0001g0018 a0006c0007t0001g0019	22	234	0.0940	16	c.144 others(35): Show c.144+10008_144+10023dupACACACACACACACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0031 a0002c0003t0003g0031	1	234	0.0043	16	c.64- others(33): Show c.64-32353_64-32338dupACACACACACACACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATAGTGTG others(9): Show ATAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0033 a0002c0011t0003g0033	1	234	0.0043	16	c.64- others(33): Show c.64-32338_64-32337insACACACACACACACTA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATATATAG others(9): Show ATATATAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	234	0.0043	16	c.64- others(33): Show c.64-32338_64-32337insACACACACACTATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATATATAT others(9): Show ATATATATAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18944.hp1 NA19056.hp1 NA18612.hp1 NA18944.hp1 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0021 a0002c0003t0002g0023 a0002c0003t0002g0034 a0002c0003t0001g0021 a0002c0003t0002g0023 a0002c0003t0002g0034	3	234	0.0128	16	c.64- others(33): Show c.64-32338_64-32337insACACACACTATATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108348950	A A	ATCACACC others(9): Show ATCACACCAGCTTGAGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	234	0.0043	16	c.64- others(33): Show c.64-38138_64-38123dupCCTCAAGCTGGTGTGA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108377941	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0008 a0002c0024t0008	a0002c0024t0008g0035 a0002c0024t0008g0035	1	234	0.0043	16	c.63+ others(33): Show c.63+59985_63+60000dupTTTTTTTTTTTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134654522	C C	CAGGGCTG others(9): Show CAGGGCTGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0247 a0001c0003t0014g0247	1	272	0.0037	16	c.109 others(35): Show c.109+12268_109+12283dupTGTGTGTAGGGCTGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134668954	C C	CCCATCCA others(9): Show CCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0035 a0001c0036t0035	a0001c0036t0035g0045 a0001c0036t0035g0045	1	272	0.0037	16	c.110 others(35): Show c.110-21938_110-21923dupTCCATCCATCCATCCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134668986	T T	TCCATCCA others(9): Show TCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp1 HG01243.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0010 a0001c0005t0045 a0001c0003t0010 a0001c0005t0045	a0001c0003t0010g0259 a0001c0005t0045g0267 a0001c0003t0010g0259 a0001c0005t0045g0267	2	272	0.0074	16	c.110 others(35): Show c.110-21923_110-21922insTCCATCCATCCACCCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747961	G G	GCACACAT others(9): Show GCACACATGCATTCACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02922.hp2 others(1): Show HG02257.hp2 HG02572.hp1 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0009 a0001c0016t0001 a0001c0016t0012 others(1): Show a0001c0001t0009 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046	a0001c0001t0009g0233 a0001c0016t0001g0022 a0001c0016t0012g0021 others(1): Show a0001c0001t0009g0233 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020	4	272	0.0147	16	c.149 others(35): Show c.1495-2557_1495-2542dupGCATTCACACACACAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747961	G G	GCACACAT others(9): Show GCACACATGCATTCATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01256.hp2 others(3): Show HG01168.hp2 HG01169.hp1 HG01256.hp2 HG03017.hp1 NA20752.hp2 NA21309.hp2	a0003 a0003	a0003c0020 a0003c0021 a0003c0038 others(1): Show a0003c0020 a0003c0021 a0003c0038 a0003c0059	a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 others(1): Show a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040	a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 others(3): Show a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0192	6	272	0.0221	16	c.149 others(35): Show c.1495-2567_1495-2566insTACACACATGCATTCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747961	G G	GCGCACAT others(9): Show GCGCACATGCATTCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(55): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01952.hp2 HG02004.hp2 HG02056.hp1 HG02080.hp1 HG02273.hp2 HG02559.hp2 HG02735.hp2 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0023 a0001c0039 a0001c0045 a0002c0013 a0002c0042 a0005c0063 a0006c0040 a0012c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0059 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0004t0018 a0001c0008t0002 a0001c0010t0026 a0001c0011t0001 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0014t0002 a0001c0023t0001 a0001c0023t0002 a0001c0039t0004 a0001c0045t0004 a0002c0013t0003 a0002c0013t0021 a0002c0042t0002 a0005c0063t0002 a0006c0040t0009 a0012c0043t0043	a0001c0001t0001g0147 a0001c0001t0002g0023 a0001c0001t0002g0069 others(55): Show a0001c0001t0001g0147 a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0003g0133 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0011g0229 a0001c0001t0059g0093 a0001c0002t0042g0185 a0001c0003t0001g0153 a0001c0003t0001g0196 a0001c0003t0001g0205 a0001c0003t0001g0222 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0005g0070 a0001c0003t0008g0078 a0001c0003t0015g0188 a0001c0004t0002g0046 a0001c0004t0004g0224 a0001c0004t0011g0080 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0008t0002g0092 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0023t0001g0014 a0001c0023t0002g0113 a0001c0039t0004g0197 a0001c0045t0004g0104 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0042t0002g0234 a0005c0063t0002g0072 a0006c0040t0009g0189 a0012c0043t0043g0037	58	272	0.2132	16	c.149 others(35): Show c.1495-2580_1495-2579insGCACATGCATTCACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134823756	T T	TGCGTGTA others(9): Show TGCGTGTATGTGACTGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0046 a0001c0004t0002g0046	1	272	0.0037	16	c.469 others(33): Show c.4698+290_4698+305dupGTGTATGTGACTGGGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	61/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134824019	G G	GTATGTGT others(9): Show GTATGTGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02145.hp1 others(7): Show HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0036 a0001c0052	a0001c0001t0009 a0001c0003t0025 a0001c0004t0018 others(5): Show a0001c0001t0009 a0001c0003t0025 a0001c0004t0018 a0001c0005t0003 a0001c0007t0015 a0001c0007t0017 a0001c0036t0035 a0001c0052t0020	a0001c0001t0009g0233 a0001c0003t0025g0043 a0001c0003t0025g0218 others(7): Show a0001c0001t0009g0233 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0003g0265 a0001c0007t0015g0200 a0001c0007t0017g0241 a0001c0036t0035g0045 a0001c0052t0020g0199	10	272	0.0368	16	c.469 others(33): Show c.4698+551_4698+552insATGTGTGTGTGTGCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	61/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(22): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00609.hp1 HG01069.hp2 HG01167.hp1 HG01255.hp2 HG01975.hp2 HG02486.hp1 HG02723.hp1 HG02735.hp2 HG02965.hp1 HG03098.hp1 HG03490.hp2 HG03654.hp2 HG03704.hp2 NA18947.hp1 NA18962.hp1 NA18998.hp2 NA19084.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0014	a0001c0001 a0004c0013 a0006c0009 others(1): Show a0001c0001 a0004c0013 a0006c0009 a0014c0020	a0001c0001t0001 a0004c0013t0001 a0006c0009t0001 others(1): Show a0001c0001t0001 a0004c0013t0001 a0006c0009t0001 a0014c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0015 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0004c0013t0001g0114 a0006c0009t0001g0019 a0014c0020t0001g0123	25	248	0.1008	16	c.208 others(33): Show c.2086-708_2086-693dupAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02293.hp2 HG03688.hp1 others(11): Show HG00609.hp2 HG02293.hp2 HG03688.hp1 NA18945.hp1 NA18947.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18978.hp2 NA18998.hp1 NA19070.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0027	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 a0001c0027t0001	a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0003g0179 others(11): Show a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0210 a0001c0001t0003g0222 a0001c0002t0002g0238 a0001c0003t0001g0164 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0207 a0001c0005t0002g0172 a0001c0005t0002g0174 a0001c0027t0001g0195	14	248	0.0565	16	c.457 others(33): Show c.457-2184_457-2169dupGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970161	G G	GGGTGAGT others(9): Show GGGTGAGTGAGGGCTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0052 a0052	a0052c0128 a0052c0128	a0052c0128t0001 a0052c0128t0001	a0052c0128t0001g0277 a0052c0128t0001g0277	1	412	0.0024	16	c.393 others(33): Show c.3937-240_3937-239insACAGCCCTCACTCACC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977947	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03834.hp2 HG02293.hp2 HG03834.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0381 a0005c0005t0001g0176 a0001c0001t0001g0381 a0005c0005t0001g0176	2	412	0.0049	16	c.301 others(33): Show c.3019-262_3019-247dupATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0309 a0002c0002t0002g0309	1	412	0.0024	16	c.158 others(33): Show c.1588-769_1588-754dupATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9999136	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02738.hp2 HG03579.hp1 HG02109.hp1 HG02738.hp2 HG03579.hp1	a0002 a0010 a0022 a0002 a0010 a0022	a0002c0139 a0010c0119 a0022c0030 a0002c0139 a0010c0119 a0022c0030	a0002c0139t0002 a0010c0119t0002 a0022c0030t0002 a0002c0139t0002 a0010c0119t0002 a0022c0030t0002	a0002c0139t0002g0059 a0010c0119t0002g0397 a0022c0030t0002g0195 a0002c0139t0002g0059 a0010c0119t0002g0397 a0022c0030t0002g0195	3	412	0.0073	16	c.111 others(34): Show c.1111-1003_1111-988dupGGAAGGAAGGAAGGAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981651	T T	TTCCCCTC others(9): Show TTCCCCTCTCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	128	0.0078	16	c.-20 others(25): Show c.-200_-199insTCCCCTCTCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		118		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46116926	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	372	0.0027	16	c.999 others(31): Show c.999+127_999+142dupACACACACACACACAC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123868	C C	CAGATGGA others(9): Show CAGATGGATAAATGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0009	a0001c0001 a0001c0005 a0001c0006 others(15): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0029 a0002c0003 a0005c0015 a0008c0036 a0009c0032	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(18): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0008 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0006 a0001c0023t0001 a0001c0024t0001 a0001c0026t0006 a0001c0029t0001 a0002c0003t0006 a0002c0003t0008 a0005c0015t0001 a0008c0036t0008 a0009c0032t0006	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(125): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0337 a0001c0005t0001g0005 a0001c0005t0001g0036 a0001c0005t0001g0040 a0001c0005t0001g0100 a0001c0005t0001g0104 a0001c0005t0001g0110 a0001c0005t0001g0112 a0001c0005t0001g0118 a0001c0005t0001g0130 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0165 a0001c0005t0001g0171 a0001c0005t0001g0190 a0001c0005t0001g0264 a0001c0005t0002g0177 a0001c0005t0003g0127 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0251 a0001c0006t0008g0303 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0010t0001g0172 a0001c0010t0001g0191 a0001c0011t0001g0335 a0001c0012t0001g0240 a0001c0012t0001g0257 a0001c0020t0001g0181 a0001c0021t0001g0180 a0001c0022t0006g0050 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0026t0006g0049 a0001c0029t0001g0143 a0002c0003t0006g0065 a0002c0003t0006g0067 a0002c0003t0008g0221 a0002c0003t0008g0222 a0002c0003t0008g0223 a0002c0003t0008g0224 a0002c0003t0008g0226 a0002c0003t0008g0227 a0005c0015t0001g0162 a0008c0036t0008g0225 a0009c0032t0006g0229	139	372	0.3737	16	c.167 others(33): Show c.1672-775_1672-774insAAATGGGTAGATGGAT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123871	A A	ATGGATAA others(9): Show ATGGATAAATGGGTAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show HG00140.hp2 HG00423.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG02818.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0003c0007 others(2): Show a0001c0002 a0003c0004 a0003c0007 a0003c0018 a0003c0033	a0001c0002t0007 a0001c0002t0009 a0003c0004t0004 others(4): Show a0001c0002t0007 a0001c0002t0009 a0003c0004t0004 a0003c0007t0001 a0003c0007t0007 a0003c0018t0003 a0003c0033t0007	a0001c0002t0007g0201 a0001c0002t0009g0020 a0001c0002t0009g0256 others(19): Show a0001c0002t0007g0201 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0002t0009g0334 a0001c0002t0009g0338 a0003c0004t0004g0234 a0003c0007t0001g0204 a0003c0007t0007g0013 a0003c0007t0007g0042 a0003c0007t0007g0043 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0196 a0003c0007t0007g0197 a0003c0007t0007g0203 a0003c0007t0007g0205 a0003c0007t0007g0206 a0003c0018t0003g0242 a0003c0018t0003g0243 a0003c0033t0007g0202	24	372	0.0645	16	c.167 others(33): Show c.1672-775_1672-774insAAATGGGTAGGTGGAT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134350	G G	GGGTTGGG others(9): Show GGGTTGGGGTTGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02040.hp2 HG03704.hp2 others(3): Show HG01175.hp1 HG02040.hp2 HG03704.hp2 NA19003.hp2 NA19066.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0146 a0001c0002t0002g0001 a0001c0002t0002g0003 others(3): Show a0001c0001t0001g0146 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0271 a0001c0002t0002g0297 a0001c0005t0001g0036	6	372	0.0161	16	c.48 others(27): Show c.4859_*4860insGGTTGGGGTTGGGGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4550		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46116926	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	364	0.0028	16	c.999 others(31): Show c.999+127_999+142dupACACACACACACACAC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123868	C C	CAGATGGA others(9): Show CAGATGGATAAATGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0013 a0014	a0001c0001 a0001c0004 a0001c0006 others(23): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0040 a0001c0041 a0001c0045 a0001c0048 a0002c0003 a0002c0013 a0002c0031 a0012c0052 a0013c0057 a0014c0051	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(27): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0022t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0040t0001 a0001c0041t0001 a0001c0045t0001 a0001c0048t0001 a0002c0003t0001 a0002c0013t0001 a0002c0013t0003 a0002c0031t0001 a0012c0052t0001 a0013c0057t0001 a0014c0051t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(125): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0004t0001g0007 a0001c0004t0001g0037 a0001c0004t0001g0042 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0001g0118 a0001c0004t0001g0127 a0001c0004t0001g0131 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0186 a0001c0004t0001g0248 a0001c0004t0001g0261 a0001c0006t0001g0002 a0001c0006t0001g0151 a0001c0006t0001g0167 a0001c0006t0001g0180 a0001c0006t0001g0242 a0001c0006t0010g0164 a0001c0007t0001g0302 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0018t0001g0169 a0001c0018t0001g0187 a0001c0019t0001g0332 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0022t0001g0236 a0001c0022t0001g0254 a0001c0034t0001g0178 a0001c0035t0001g0052 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0040t0001g0008 a0001c0041t0001g0128 a0001c0045t0001g0051 a0001c0048t0001g0144 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0013t0003g0067 a0002c0013t0003g0069 a0002c0031t0001g0218 a0002c0031t0001g0220 a0012c0052t0001g0160 a0013c0057t0001g0221 a0014c0051t0001g0225	134	364	0.3681	16	c.167 others(33): Show c.1672-775_1672-774insAAATGGGTAGATGGAT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123871	A A	ATGGATAA others(9): Show ATGGATAAATGGGTAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show HG00140.hp2 HG00423.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG02818.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0009 a0001c0044 a0003c0008 others(5): Show a0001c0009 a0001c0044 a0003c0008 a0003c0016 a0003c0032 a0003c0054 a0004c0005 a0008c0027	a0001c0009t0001 a0001c0044t0003 a0003c0008t0003 others(5): Show a0001c0009t0001 a0001c0044t0003 a0003c0008t0003 a0003c0016t0001 a0003c0032t0001 a0003c0054t0003 a0004c0005t0004 a0008c0027t0003	a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 others(19): Show a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0016t0001g0200 a0003c0032t0001g0240 a0003c0032t0001g0241 a0003c0054t0003g0198 a0004c0005t0004g0230 a0008c0027t0003g0013	24	364	0.0659	16	c.167 others(33): Show c.1672-775_1672-774insAAATGGGTAGGTGGAT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134350	G G	GGGTTGGG others(9): Show GGGTTGGGGTTGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02040.hp2 HG03704.hp2 others(3): Show HG01175.hp1 HG02040.hp2 HG03704.hp2 NA19003.hp2 NA19066.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0147 a0001c0002t0002g0001 a0001c0002t0002g0014 others(3): Show a0001c0001t0001g0147 a0001c0002t0002g0001 a0001c0002t0002g0014 a0001c0002t0002g0268 a0001c0002t0002g0294 a0001c0004t0001g0037	6	364	0.0165	16	c.17 others(27): Show c.1798_*1799insGGTTGGGGTTGGGGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1503		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03654.hp2 HG03927.hp1 HG01261.hp2 HG03654.hp2 HG03927.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0258 a0002c0001t0001g0290 a0002c0001t0002g0295 a0002c0001t0001g0258 a0002c0001t0001g0290 a0002c0001t0002g0295	3	322	0.0093	16	c.932 others(35): Show c.9328+1364_9328+1379dupATATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04228.hp1 NA18981.hp1 others(2): Show HG02735.hp1 HG04228.hp1 NA18981.hp1 NA19055.hp2 NA19240.hp1	a0001 a0003 a0024 others(2): Show a0001 a0003 a0024 a0027 a0058	a0001c0002 a0003c0005 a0024c0038 others(2): Show a0001c0002 a0003c0005 a0024c0038 a0027c0023 a0058c0098	a0001c0002t0002 a0003c0005t0003 a0024c0038t0002 others(2): Show a0001c0002t0002 a0003c0005t0003 a0024c0038t0002 a0027c0023t0001 a0058c0098t0001	a0001c0002t0002g0297 a0003c0005t0003g0060 a0024c0038t0002g0110 others(2): Show a0001c0002t0002g0297 a0003c0005t0003g0060 a0024c0038t0002g0110 a0027c0023t0001g0125 a0058c0098t0001g0101	5	322	0.0155	16	c.932 others(35): Show c.9328+1332_9328+1333insCATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237397017	T T	TGATAGAT others(9): Show TGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp2 HG01169.hp2 others(9): Show HG00609.hp2 HG00741.hp2 HG01169.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp2 NA18747.hp1 NA18945.hp1 NA18952.hp1 NA18979.hp1 NA19003.hp2 NA19054.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0013 a0016 a0024 a0042 a0045	a0001c0002 a0002c0009 a0002c0022 others(7): Show a0001c0002 a0002c0009 a0002c0022 a0004c0140 a0006c0007 a0013c0034 a0016c0019 a0024c0038 a0042c0060 a0045c0067	a0001c0002t0002 a0001c0002t0004 a0002c0009t0002 others(9): Show a0001c0002t0002 a0001c0002t0004 a0002c0009t0002 a0002c0022t0001 a0004c0140t0002 a0006c0007t0001 a0006c0007t0002 a0013c0034t0005 a0016c0019t0002 a0024c0038t0002 a0042c0060t0001 a0045c0067t0002	a0001c0002t0002g0286 a0001c0002t0004g0008 a0002c0009t0002g0223 others(9): Show a0001c0002t0002g0286 a0001c0002t0004g0008 a0002c0009t0002g0223 a0002c0022t0001g0027 a0004c0140t0002g0205 a0006c0007t0001g0210 a0006c0007t0002g0285 a0013c0034t0005g0103 a0016c0019t0002g0212 a0024c0038t0002g0111 a0042c0060t0001g0035 a0045c0067t0002g0288	12	322	0.0373	16	c.-30 others(31): Show c.-30-186_-30-171dupTATCTATCTATCTATC	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	1/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362248	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0105 a0010c0007t0001g0105	1	292	0.0034	16	c.-28 others(35): Show c.-28-11360_-28-11359insCTCTCTCTCTCTCTCT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362252	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(38): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00597.hp1 HG01106.hp1 HG01123.hp2 HG01257.hp2 HG01515.hp1 HG01943.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18980.hp1 NA18982.hp2 NA19001.hp2 NA19002.hp2 NA19030.hp2 NA19056.hp2 NA19063.hp2 NA19080.hp2 NA19081.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0009 a0010 a0011 a0012 a0016 a0022 a0027 a0029 a0042 a0043 a0047 a0051 a0056 a0060 a0083	a0001c0001 a0002c0002 a0003c0004 others(16): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0009c0009 a0010c0007 a0011c0012 a0012c0011 a0016c0020 a0022c0024 a0027c0089 a0029c0088 a0042c0103 a0043c0104 a0047c0084 a0051c0085 a0056c0095 a0060c0074 a0083c0046	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0003c0004t0011 a0004c0003t0002 a0004c0003t0003 a0009c0009t0002 a0010c0007t0001 a0011c0012t0002 a0011c0012t0003 a0012c0011t0002 a0016c0020t0001 a0022c0024t0002 a0027c0089t0002 a0029c0088t0014 a0042c0103t0002 a0043c0104t0002 a0047c0084t0002 a0051c0085t0003 a0056c0095t0007 a0060c0074t0002 a0083c0046t0007	a0001c0001t0002g0198 a0001c0001t0003g0086 a0002c0002t0001g0172 others(37): Show a0001c0001t0002g0198 a0001c0001t0003g0086 a0002c0002t0001g0172 a0002c0002t0002g0032 a0003c0004t0011g0073 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0197 a0004c0003t0003g0087 a0009c0009t0002g0094 a0009c0009t0002g0095 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0100 a0009c0009t0002g0101 a0009c0009t0002g0281 a0009c0009t0002g0282 a0010c0007t0001g0170 a0011c0012t0002g0195 a0011c0012t0002g0204 a0011c0012t0003g0083 a0011c0012t0003g0084 a0011c0012t0003g0085 a0011c0012t0003g0089 a0012c0011t0002g0205 a0012c0011t0002g0206 a0012c0011t0002g0208 a0016c0020t0001g0171 a0016c0020t0001g0275 a0022c0024t0002g0003 a0022c0024t0002g0102 a0027c0089t0002g0200 a0029c0088t0014g0088 a0042c0103t0002g0091 a0043c0104t0002g0092 a0047c0084t0002g0271 a0051c0085t0003g0082 a0056c0095t0007g0196 a0060c0074t0002g0034 a0083c0046t0007g0033	41	292	0.1404	16	c.-28 others(35): Show c.-28-11355_-28-11340dupCTCTCTCTCTCTCTCT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130467790	T T	TATCTAAT others(9): Show TATCTAATAAAGGGTTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp2 HG00733.hp1 HG01358.hp2	a0007 a0070 a0007 a0070	a0007c0008 a0070c0070 a0007c0008 a0070c0070	a0007c0008t0003 a0070c0070t0003 a0007c0008t0003 a0070c0070t0003	a0007c0008t0003g0066 a0070c0070t0003g0064 a0007c0008t0003g0066 a0070c0070t0003g0064	2	292	0.0069	16	c.679 others(34): Show c.6791-1003_6791-988dupTCTAATAAAGGGTTGA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	37/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472827	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0038 a0038	a0038c0043 a0038c0043	a0038c0043t0001 a0038c0043t0001	a0038c0043t0001g0183 a0038c0043t0001g0183	1	292	0.0034	16	c.781 others(33): Show c.7819+905_7819+906insTATATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CACATATA others(9): Show CACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0059 a0059	a0059c0073 a0059c0073	a0059c0073t0003 a0059c0073t0003	a0059c0073t0003g0040 a0059c0073t0003g0040	1	292	0.0034	16	c.781 others(33): Show c.7819+907_7819+908insCATATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01106.hp2 others(34): Show HG00544.hp1 HG00597.hp2 HG01106.hp2 HG01123.hp2 HG01257.hp2 HG01433.hp2 HG01943.hp2 HG02129.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 NA18947.hp1 NA18950.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp2 NA20129.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0017 a0019 a0021 a0022 a0024 a0032 a0036 a0038 a0040 a0056 a0061 a0071	a0001c0001 a0002c0002 a0002c0047 others(20): Show a0001c0001 a0002c0002 a0002c0047 a0003c0004 a0004c0003 a0007c0008 a0008c0010 a0008c0026 a0009c0009 a0010c0007 a0011c0012 a0017c0019 a0019c0017 a0021c0039 a0022c0024 a0024c0022 a0032c0097 a0036c0030 a0038c0043 a0040c0042 a0056c0095 a0061c0053 a0071c0071	a0001c0001t0002 a0002c0002t0001 a0002c0047t0001 others(21): Show a0001c0001t0002 a0002c0002t0001 a0002c0047t0001 a0003c0004t0001 a0004c0003t0002 a0007c0008t0003 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0009c0009t0002 a0010c0007t0001 a0011c0012t0003 a0017c0019t0002 a0019c0017t0003 a0021c0039t0001 a0022c0024t0002 a0024c0022t0001 a0032c0097t0001 a0036c0030t0002 a0038c0043t0003 a0040c0042t0011 a0056c0095t0007 a0061c0053t0001 a0071c0071t0001	a0001c0001t0002g0189 a0001c0001t0002g0222 a0002c0002t0001g0121 others(31): Show a0001c0001t0002g0189 a0001c0001t0002g0222 a0002c0002t0001g0121 a0002c0002t0001g0150 a0002c0047t0001g0111 a0003c0004t0001g0093 a0003c0004t0001g0147 a0003c0004t0001g0151 a0004c0003t0002g0193 a0004c0003t0002g0197 a0007c0008t0003g0001 a0008c0010t0001g0141 a0008c0010t0001g0149 a0008c0010t0005g0045 a0008c0026t0009g0165 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0281 a0010c0007t0001g0136 a0010c0007t0001g0163 a0011c0012t0003g0085 a0017c0019t0002g0009 a0017c0019t0002g0248 a0019c0017t0003g0277 a0021c0039t0001g0139 a0022c0024t0002g0003 a0024c0022t0001g0152 a0032c0097t0001g0135 a0036c0030t0002g0213 a0038c0043t0003g0079 a0040c0042t0011g0090 a0056c0095t0007g0196 a0061c0053t0001g0175 a0071c0071t0001g0180	37	292	0.1267	16	c.781 others(33): Show c.7819+918_7819+933dupTATATATATATATATA	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(9): Show AGTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0002 a0004c0029t0002	a0004c0029t0002g0036 a0004c0029t0002g0036	1	264	0.0038	16	c.-32 others(35): Show c.-32+13657_-32+13658insGTCTCTCTCTCTCTCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531061	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0035 a0035	a0035c0058 a0035c0058	a0035c0058t0004 a0035c0058t0004	a0035c0058t0004g0240 a0035c0058t0004g0240	1	264	0.0038	16	c.-32 others(35): Show c.-32+13678_-32+13693dupCTCTCTCTCTCTCTCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636794	C C	CCTCCCCG others(9): Show CCTCCCCGCCCCTTACT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	264	0.0038	16	c.509 others(35): Show c.5091+1034_5091+1035insTCCCCGCCCCTTACTC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99633643	G G	GTGGTGTG others(9): Show GTGGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 NA18952.hp2 others(2): Show HG00438.hp2 HG00597.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0161 a0001c0001t0002g0160 a0001c0001t0003g0192 others(2): Show a0001c0001t0001g0161 a0001c0001t0002g0160 a0001c0001t0003g0192 a0001c0001t0003g0196 a0001c0001t0005g0171	5	262	0.0191	16	c.-51 others(27): Show c.-5150_-5149insTGGTGTGTGTGTGTGT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4950		chr3	TogoVar

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