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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
COL5A1_chr9_134636803_134849843	134758304	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02486.hp2 HG02622.hp1 others(3): Show HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0001c0049	a0001c0003t0014 a0001c0005t0003 a0001c0005t0006 others(3): Show a0001c0003t0014 a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0007t0023 a0001c0049t0003	a0001c0003t0014g0247 a0001c0005t0003g0265 a0001c0005t0006g0040 others(3): Show a0001c0003t0014g0247 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0007t0023g0232 a0001c0049t0003g0183	6	272	0.0221	0	c.193 others(6): Show c.1935+8T>G		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					chr9	TogoVar
COL5A1_chr9_134636803_134849843	134795319	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02886.hp2 HG03453.hp2 others(2): Show HG01891.hp1 HG02886.hp2 HG03453.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0044 a0001c0001 a0001c0009 a0001c0044	a0001c0001t0004 a0001c0001t0007 a0001c0009t0003 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0009t0003 a0001c0009t0023 a0001c0044t0057	a0001c0001t0004g0102 a0001c0001t0007g0248 a0001c0009t0003g0261 others(2): Show a0001c0001t0004g0102 a0001c0001t0007g0248 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0044t0057g0042	5	272	0.0184	0	c.279 others(6): Show c.2799+4T>C		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	34/65					chr9	TogoVar
COL5A1_chr9_134636803_134849843	134806181	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	272	0.0037	0	c.325 others(6): Show c.3259-8C>T		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	41/65					chr9	TogoVar
COL5A1_chr9_134636803_134849843	134815988	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(36): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00741.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01515.hp2 HG01884.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG04199.hp2 HG04204.hp2 NA18950.hp1 NA18950.hp2 NA18969.hp1 NA18971.hp2 NA18986.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19240.hp2 NA20129.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0008 a0009	a0001c0004 a0001c0010 a0001c0015 others(12): Show a0001c0004 a0001c0010 a0001c0015 a0001c0024 a0001c0027 a0001c0031 a0001c0032 a0001c0049 a0001c0056 a0001c0061 a0004c0067 a0005c0062 a0007c0066 a0008c0030 a0009c0054	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(25): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0004t0018 a0001c0004t0030 a0001c0004t0033 a0001c0010t0001 a0001c0010t0003 a0001c0010t0026 a0001c0015t0001 a0001c0015t0002 a0001c0015t0052 a0001c0024t0001 a0001c0024t0017 a0001c0027t0001 a0001c0027t0002 a0001c0031t0006 a0001c0032t0010 a0001c0049t0003 a0001c0056t0001 a0001c0061t0013 a0004c0067t0001 a0005c0062t0011 a0007c0066t0001 a0008c0030t0001 a0009c0054t0002	a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 others(36): Show a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0132 a0001c0004t0002g0172 a0001c0004t0002g0228 a0001c0004t0003g0064 a0001c0004t0003g0145 a0001c0004t0004g0089 a0001c0004t0004g0224 a0001c0004t0011g0080 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0030g0253 a0001c0004t0033g0131 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0003g0068 a0001c0010t0026g0049 a0001c0015t0001g0268 a0001c0015t0002g0054 a0001c0015t0052g0016 a0001c0024t0001g0207 a0001c0024t0017g0180 a0001c0027t0001g0130 a0001c0027t0002g0090 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0049t0003g0183 a0001c0056t0001g0084 a0001c0061t0013g0178 a0004c0067t0001g0094 a0005c0062t0011g0026 a0007c0066t0001g0235 a0008c0030t0001g0137 a0009c0054t0002g0141	39	272	0.1434	0	c.412 others(4): Show c.4122G>A	p.Thr others(7): Show p.Thr1374Thr	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	52/66	4507/8442	4122/5517	1374/1838		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134817837	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp1 NA20129.hp2 HG01071.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0001 a0001c0004t0004	a0001c0004t0001g0013 a0001c0004t0004g0089 a0001c0004t0001g0013 a0001c0004t0004g0089	2	272	0.0074	0	c.423 others(6): Show c.4230+6G>A		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	54/65					chr9	TogoVar
COL5A1_chr9_134636803_134849843	134824594	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0025 a0001c0005 a0001c0025	a0001c0005t0022 a0001c0025t0015 a0001c0005t0022 a0001c0025t0015	a0001c0005t0022g0085 a0001c0025t0015g0007 a0001c0005t0022g0085 a0001c0025t0015g0007	2	272	0.0074	0	c.469 others(6): Show c.4699-6C>T		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	61/65					chr9	TogoVar
COL5A1_chr9_134636803_134849843	134829969	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02572.hp1 HG02723.hp1 others(2): Show HG02145.hp1 HG02572.hp1 HG02723.hp1 HG02970.hp2 HG03516.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0025 a0012c0043	a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 others(2): Show a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 a0001c0025t0015 a0012c0043t0043	a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 others(2): Show a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 a0001c0025t0015g0007 a0012c0043t0043g0037	5	272	0.0184	0	c.506 others(6): Show c.5068-7T>C		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65					chr9	TogoVar
COL5A2_chr2_189026898_189184761	189052229	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0009 a0001c0012t0010 a0001c0002t0009 a0001c0012t0010	a0001c0002t0009g0143 a0001c0002t0009g0161 a0001c0002t0009g0162 others(2): Show a0001c0002t0009g0143 a0001c0002t0009g0161 a0001c0002t0009g0162 a0001c0012t0010g0040 a0001c0012t0010g0126	5	248	0.0202	0	c.271 others(6): Show c.2716-4C>T		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	40/53					chr2	TogoVar
COL5A2_chr2_189026898_189184761	189053896	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp2 HG04199.hp1 NA19065.hp1 HG01192.hp2 HG04199.hp1 NA19065.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0017 a0002c0006t0005 a0002c0006t0017	a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136	3	248	0.0121	0	c.249 others(4): Show c.2498C>T	p.Pro others(6): Show p.Pro833Leu	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	37/54	2655/6829	2498/4500	833/1499		chr2	TogoVar
COL5A2_chr2_189026898_189184761	189066723	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0010 a0001c0012t0010	a0001c0012t0010g0040 a0001c0012t0010g0126 a0001c0012t0010g0040 a0001c0012t0010g0126	2	248	0.0081	0	c.145 others(6): Show c.1455+6G>T		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	22/53					chr2	TogoVar
COL5A2_chr2_189026898_189184761	189068016	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp1 HG02965.hp1 HG02717.hp1 HG02965.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0113 a0004c0013t0001g0114 a0004c0013t0001g0113 a0004c0013t0001g0114	2	248	0.0081	0	c.140 others(4): Show c.1400C>T	p.Pro others(6): Show p.Pro467Leu	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	21/54	1557/6829	1400/4500	467/1499		chr2	TogoVar
COL5A2_chr2_189026898_189184761	189068227	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0108 a0007c0015t0001g0108	1	248	0.0040	0	c.130 others(4): Show c.1301C>T	p.Thr others(6): Show p.Thr434Met	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	20/54	1458/6829	1301/4500	434/1499		chr2	TogoVar
COL5A3_chr19_9954561_10015504	9962893	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02630.hp1 HG02965.hp1 others(4): Show HG02559.hp1 HG02630.hp1 HG02965.hp1 HG03139.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp2	a0027 a0029 a0041 others(2): Show a0027 a0029 a0041 a0054 a0069	a0027c0054 a0027c0084 a0029c0124 others(3): Show a0027c0054 a0027c0084 a0029c0124 a0041c0063 a0054c0118 a0069c0099	a0027c0054t0013 a0027c0084t0012 a0029c0124t0001 others(3): Show a0027c0054t0013 a0027c0084t0012 a0029c0124t0001 a0041c0063t0012 a0054c0118t0002 a0069c0099t0002	a0027c0054t0013g0004 a0027c0054t0013g0005 a0027c0084t0012g0167 others(4): Show a0027c0054t0013g0004 a0027c0054t0013g0005 a0027c0084t0012g0167 a0029c0124t0001g0217 a0041c0063t0012g0190 a0054c0118t0002g0287 a0069c0099t0002g0040	7	412	0.0170	0	c.478 others(6): Show c.4783-6T>C		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66					chr19	TogoVar
COL5A3_chr19_9954561_10015504	9966314	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(20): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00673.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02056.hp2 HG02135.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18969.hp2 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1 NA19087.hp2	a0004 a0025 a0045 others(3): Show a0004 a0025 a0045 a0057 a0061 a0075	a0004c0010 a0004c0013 a0004c0108 others(6): Show a0004c0010 a0004c0013 a0004c0108 a0004c0113 a0025c0031 a0045c0071 a0057c0141 a0061c0109 a0075c0091	a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 others(10): Show a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0004c0113t0001 a0025c0031t0001 a0025c0031t0004 a0045c0071t0004 a0057c0141t0002 a0061c0109t0004 a0075c0091t0004	a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 others(20): Show a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0004c0108t0004g0362 a0004c0113t0001g0286 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0045c0071t0004g0155 a0057c0141t0002g0067 a0061c0109t0004g0081 a0075c0091t0004g0014	23	412	0.0558	0	c.478 others(4): Show c.4782C>G	p.Ile others(7): Show p.Ile1594Met	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/67	4901/6207	4782/5238	1594/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9969393	CTGGTTCA others(19): Show CTGGTTCACCCTGAGAATGGAACAGAA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19087.hp1 NA19087.hp1	a0060 a0060	a0060c0123 a0060c0123	a0060c0123t0001 a0060c0123t0001	a0060c0123t0001g0388 a0060c0123t0001g0388	1	412	0.0024	-26	c.409 others(38): Show c.4099-17_4107delTTCTGTTCCATTCTCAGGGTGAACCA	p.Gly others(15): Show p.Gly1367_Gly1370del	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	57/67	4226/6207	4099/5238	1367/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977595	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00544.hp2 others(149): Show HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0011 others(35): Show a0002 a0003 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0027 a0029 a0030 a0036 a0037 a0039 a0040 a0041 a0044 a0047 a0049 a0050 a0051 a0052 a0053 a0054 a0063 a0064 a0065 a0067 a0068 a0069 a0071 a0072 a0073	a0002c0002 a0002c0020 a0002c0034 others(60): Show a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0053 a0002c0083 a0002c0126 a0002c0130 a0002c0139 a0003c0009 a0003c0011 a0003c0125 a0003c0136 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0012c0087 a0013c0008 a0016c0036 a0016c0037 a0016c0074 a0016c0107 a0018c0018 a0019c0028 a0019c0069 a0020c0035 a0020c0097 a0021c0038 a0021c0066 a0022c0030 a0023c0027 a0024c0039 a0024c0060 a0027c0054 a0027c0084 a0029c0088 a0029c0124 a0030c0080 a0030c0135 a0036c0073 a0036c0102 a0037c0046 a0039c0067 a0040c0068 a0041c0063 a0044c0062 a0047c0133 a0049c0079 a0050c0115 a0051c0127 a0052c0128 a0053c0129 a0054c0118 a0063c0134 a0064c0076 a0065c0103 a0067c0100 a0068c0101 a0069c0099 a0071c0095 a0072c0093 a0073c0096	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(77): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0041t0002 a0002c0053t0001 a0002c0083t0005 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0125t0003 a0003c0136t0009 a0011c0006t0003 a0011c0006t0006 a0011c0006t0009 a0011c0006t0016 a0011c0006t0018 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0012c0025t0002 a0012c0025t0003 a0012c0077t0001 a0012c0087t0001 a0013c0008t0001 a0016c0036t0001 a0016c0036t0002 a0016c0037t0002 a0016c0074t0002 a0016c0107t0002 a0018c0018t0003 a0018c0018t0006 a0018c0018t0009 a0019c0028t0001 a0019c0028t0002 a0019c0069t0002 a0020c0035t0002 a0020c0097t0002 a0021c0038t0001 a0021c0066t0003 a0022c0030t0002 a0023c0027t0002 a0024c0039t0014 a0024c0060t0015 a0027c0054t0013 a0027c0084t0012 a0029c0088t0002 a0029c0124t0001 a0030c0080t0015 a0030c0135t0004 a0036c0073t0006 a0036c0102t0003 a0037c0046t0003 a0039c0067t0002 a0040c0068t0003 a0041c0063t0012 a0044c0062t0003 a0047c0133t0001 a0049c0079t0003 a0050c0115t0002 a0051c0127t0003 a0052c0128t0001 a0053c0129t0006 a0054c0118t0002 a0063c0134t0001 a0064c0076t0007 a0065c0103t0003 a0067c0100t0001 a0068c0101t0004 a0069c0099t0002 a0071c0095t0002 a0072c0093t0001 a0073c0096t0002	a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 others(148): Show a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0337 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0020t0001g0070 a0002c0020t0001g0105 a0002c0020t0001g0232 a0002c0020t0002g0096 a0002c0020t0002g0404 a0002c0034t0002g0121 a0002c0034t0002g0163 a0002c0034t0002g0258 a0002c0041t0001g0215 a0002c0041t0002g0026 a0002c0053t0001g0344 a0002c0053t0001g0382 a0002c0083t0005g0156 a0002c0126t0001g0118 a0002c0130t0001g0314 a0002c0139t0002g0059 a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0348 a0003c0009t0003g0349 a0003c0009t0003g0357 a0003c0009t0003g0385 a0003c0009t0003g0395 a0003c0011t0003g0057 a0003c0011t0003g0138 a0003c0011t0003g0142 a0003c0011t0006g0212 a0003c0011t0006g0214 a0003c0011t0006g0341 a0003c0011t0009g0280 a0003c0011t0009g0281 a0003c0125t0003g0369 a0003c0136t0009g0066 a0011c0006t0003g0132 a0011c0006t0003g0174 a0011c0006t0003g0175 a0011c0006t0003g0186 a0011c0006t0003g0188 a0011c0006t0006g0181 a0011c0006t0006g0189 a0011c0006t0006g0194 a0011c0006t0009g0130 a0011c0006t0016g0171 a0011c0006t0018g0056 a0012c0017t0001g0120 a0012c0017t0001g0141 a0012c0017t0001g0143 a0012c0017t0001g0144 a0012c0017t0002g0270 a0012c0025t0001g0151 a0012c0025t0001g0347 a0012c0025t0002g0317 a0012c0025t0003g0394 a0012c0077t0001g0113 a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0016c0036t0001g0236 a0016c0036t0001g0237 a0016c0036t0002g0148 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134 a0016c0107t0002g0235 a0018c0018t0003g0010 a0018c0018t0003g0011 a0018c0018t0006g0009 a0018c0018t0009g0019 a0018c0018t0009g0020 a0019c0028t0001g0185 a0019c0028t0001g0259 a0019c0028t0002g0173 a0019c0069t0002g0334 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0038t0001g0108 a0021c0038t0001g0111 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0023c0027t0002g0178 a0023c0027t0002g0198 a0023c0027t0002g0199 a0024c0039t0014g0182 a0024c0039t0014g0192 a0024c0060t0015g0183 a0027c0054t0013g0004 a0027c0054t0013g0005 a0027c0084t0012g0167 a0029c0088t0002g0255 a0029c0124t0001g0217 a0030c0080t0015g0110 a0030c0135t0004g0336 a0036c0073t0006g0164 a0036c0102t0003g0226 a0037c0046t0003g0027 a0037c0046t0003g0030 a0039c0067t0002g0335 a0040c0068t0003g0172 a0041c0063t0012g0190 a0044c0062t0003g0191 a0047c0133t0001g0367 a0049c0079t0003g0338 a0050c0115t0002g0390 a0051c0127t0003g0252 a0052c0128t0001g0277 a0053c0129t0006g0058 a0054c0118t0002g0287 a0063c0134t0001g0304 a0064c0076t0007g0042 a0065c0103t0003g0224 a0067c0100t0001g0038 a0068c0101t0004g0039 a0069c0099t0002g0040 a0071c0095t0002g0036 a0072c0093t0001g0282 a0073c0096t0002g0007	152	412	0.3689	0	c.312 others(4): Show c.3125G>C	p.Arg others(7): Show p.Arg1042Pro	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	42/67	3244/6207	3125/5238	1042/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9978891	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0001 a0001c0111t0001	a0001c0111t0001g0324 a0001c0111t0001g0324	1	412	0.0024	0	c.296 others(4): Show c.2964G>A	p.Pro others(6): Show p.Pro988Pro	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	40/67	3083/6207	2964/5238	988/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9980648	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0001 a0001c0111t0001	a0001c0111t0001g0324 a0001c0111t0001g0324	1	412	0.0024	0	c.260 others(4): Show c.2604G>A	p.Lys others(6): Show p.Lys868Lys	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	35/67	2723/6207	2604/5238	868/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9980858	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0048 a0048	a0048c0137 a0048c0137	a0048c0137t0002 a0048c0137t0002	a0048c0137t0002g0060 a0048c0137t0002g0060	1	412	0.0024	0	c.250 others(4): Show c.2507G>A	p.Gly others(6): Show p.Gly836Asp	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	34/67	2626/6207	2507/5238	836/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9992000	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(194): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(55): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0037 a0039 a0041 a0042 a0043 a0045 a0047 a0048 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0061 a0063 a0064 a0066 a0067 a0069 a0070 a0071 a0073 a0074 a0075 a0076	a0001c0033 a0001c0040 a0001c0045 others(93): Show a0001c0033 a0001c0040 a0001c0045 a0001c0089 a0001c0117 a0001c0142 a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0053 a0002c0083 a0002c0126 a0002c0130 a0002c0139 a0004c0010 a0004c0013 a0004c0108 a0005c0070 a0006c0022 a0006c0055 a0006c0081 a0006c0082 a0007c0138 a0009c0007 a0009c0048 a0010c0015 a0010c0044 a0010c0052 a0010c0119 a0010c0140 a0012c0077 a0012c0087 a0013c0008 a0014c0012 a0014c0064 a0015c0050 a0015c0104 a0016c0036 a0016c0037 a0016c0074 a0016c0107 a0017c0026 a0017c0120 a0019c0028 a0019c0069 a0020c0035 a0020c0097 a0021c0038 a0021c0066 a0022c0030 a0025c0031 a0026c0056 a0026c0086 a0027c0054 a0027c0084 a0028c0105 a0029c0088 a0029c0124 a0030c0080 a0031c0043 a0032c0085 a0032c0122 a0033c0042 a0034c0078 a0034c0131 a0035c0047 a0037c0046 a0039c0067 a0041c0063 a0042c0059 a0043c0061 a0045c0071 a0047c0133 a0048c0137 a0051c0127 a0052c0128 a0053c0129 a0054c0118 a0055c0116 a0056c0121 a0057c0141 a0058c0132 a0059c0090 a0061c0109 a0063c0134 a0064c0076 a0066c0106 a0067c0100 a0069c0099 a0070c0098 a0071c0095 a0073c0096 a0074c0094 a0075c0091 a0076c0143	a0001c0033t0002 a0001c0033t0011 a0001c0040t0005 others(113): Show a0001c0033t0002 a0001c0033t0011 a0001c0040t0005 a0001c0045t0001 a0001c0045t0002 a0001c0089t0001 a0001c0117t0005 a0001c0142t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0053t0001 a0002c0083t0005 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0005c0070t0002 a0006c0022t0007 a0006c0022t0011 a0006c0055t0001 a0006c0055t0002 a0006c0081t0001 a0006c0082t0007 a0007c0138t0003 a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0052t0001 a0010c0119t0002 a0010c0140t0001 a0012c0077t0001 a0012c0087t0001 a0013c0008t0001 a0014c0012t0001 a0014c0064t0001 a0015c0050t0001 a0015c0050t0005 a0015c0104t0003 a0016c0036t0001 a0016c0036t0002 a0016c0037t0002 a0016c0074t0002 a0016c0107t0002 a0017c0026t0002 a0017c0120t0002 a0019c0028t0001 a0019c0069t0002 a0020c0035t0002 a0020c0097t0002 a0021c0038t0001 a0021c0066t0003 a0022c0030t0002 a0025c0031t0001 a0025c0031t0004 a0026c0056t0002 a0026c0086t0002 a0027c0054t0013 a0027c0084t0012 a0028c0105t0003 a0029c0088t0002 a0029c0124t0001 a0030c0080t0015 a0031c0043t0006 a0031c0043t0007 a0032c0085t0012 a0032c0122t0001 a0033c0042t0001 a0034c0078t0001 a0034c0131t0001 a0035c0047t0001 a0037c0046t0003 a0039c0067t0002 a0041c0063t0012 a0042c0059t0001 a0043c0061t0003 a0045c0071t0004 a0047c0133t0001 a0048c0137t0002 a0051c0127t0003 a0052c0128t0001 a0053c0129t0006 a0054c0118t0002 a0055c0116t0002 a0056c0121t0001 a0057c0141t0002 a0058c0132t0020 a0059c0090t0003 a0061c0109t0004 a0063c0134t0001 a0064c0076t0007 a0066c0106t0002 a0067c0100t0001 a0069c0099t0002 a0070c0098t0001 a0071c0095t0002 a0073c0096t0002 a0074c0094t0001 a0075c0091t0004 a0076c0143t0010	a0001c0033t0002g0153 a0001c0033t0011g0154 a0001c0033t0011g0168 others(193): Show a0001c0033t0002g0153 a0001c0033t0011g0154 a0001c0033t0011g0168 a0001c0040t0005g0127 a0001c0040t0005g0158 a0001c0045t0001g0140 a0001c0045t0002g0032 a0001c0089t0001g0225 a0001c0117t0005g0248 a0001c0142t0001g0284 a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0337 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0020t0001g0070 a0002c0020t0001g0105 a0002c0020t0001g0232 a0002c0020t0002g0096 a0002c0020t0002g0404 a0002c0034t0002g0121 a0002c0034t0002g0163 a0002c0034t0002g0258 a0002c0041t0001g0215 a0002c0053t0001g0344 a0002c0053t0001g0382 a0002c0083t0005g0156 a0002c0126t0001g0118 a0002c0130t0001g0314 a0002c0139t0002g0059 a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0004c0108t0004g0362 a0005c0070t0002g0265 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0006c0055t0001g0399 a0006c0055t0002g0305 a0006c0081t0001g0166 a0006c0082t0007g0169 a0007c0138t0003g0064 a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 a0009c0007t0001g0231 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0009c0048t0001g0234 a0009c0048t0001g0238 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0010c0044t0002g0268 a0010c0044t0021g0340 a0010c0052t0001g0102 a0010c0119t0002g0397 a0010c0140t0001g0063 a0012c0077t0001g0113 a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0014c0064t0001g0180 a0015c0050t0001g0145 a0015c0050t0005g0222 a0015c0104t0003g0241 a0016c0036t0001g0236 a0016c0036t0001g0237 a0016c0036t0002g0148 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134 a0016c0107t0002g0235 a0017c0026t0002g0391 a0017c0026t0002g0392 a0017c0026t0002g0401 a0017c0026t0002g0402 a0017c0120t0002g0400 a0019c0028t0001g0185 a0019c0069t0002g0334 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0038t0001g0108 a0021c0038t0001g0111 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0027c0054t0013g0004 a0027c0054t0013g0005 a0027c0084t0012g0167 a0028c0105t0003g0223 a0029c0088t0002g0255 a0029c0124t0001g0217 a0030c0080t0015g0110 a0031c0043t0006g0055 a0031c0043t0007g0054 a0032c0085t0012g0146 a0032c0122t0001g0170 a0033c0042t0001g0115 a0033c0042t0001g0116 a0034c0078t0001g0389 a0034c0131t0001g0292 a0035c0047t0001g0275 a0035c0047t0001g0276 a0037c0046t0003g0027 a0037c0046t0003g0030 a0039c0067t0002g0335 a0041c0063t0012g0190 a0042c0059t0001g0187 a0043c0061t0003g0260 a0045c0071t0004g0155 a0047c0133t0001g0367 a0048c0137t0002g0060 a0051c0127t0003g0252 a0052c0128t0001g0277 a0053c0129t0006g0058 a0054c0118t0002g0287 a0055c0116t0002g0112 a0056c0121t0001g0406 a0057c0141t0002g0067 a0058c0132t0020g0208 a0059c0090t0003g0126 a0061c0109t0004g0081 a0063c0134t0001g0304 a0064c0076t0007g0042 a0066c0106t0002g0043 a0067c0100t0001g0038 a0069c0099t0002g0040 a0070c0098t0001g0006 a0071c0095t0002g0036 a0073c0096t0002g0007 a0074c0094t0001g0028 a0075c0091t0004g0014 a0076c0143t0010g0409	197	412	0.4782	0	c.189 others(6): Show c.1893+4T>C		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	22/66					chr19	TogoVar
COL5A3_chr19_9954561_10015504	9993680	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02451.hp2 HG02970.hp2 others(2): Show HG02145.hp2 HG02451.hp2 HG02970.hp2 HG03098.hp2 HG03225.hp2	a0001 a0064 a0067 others(1): Show a0001 a0064 a0067 a0071	a0001c0089 a0001c0142 a0064c0076 others(2): Show a0001c0089 a0001c0142 a0064c0076 a0067c0100 a0071c0095	a0001c0089t0001 a0001c0142t0001 a0064c0076t0007 others(2): Show a0001c0089t0001 a0001c0142t0001 a0064c0076t0007 a0067c0100t0001 a0071c0095t0002	a0001c0089t0001g0225 a0001c0142t0001g0284 a0064c0076t0007g0042 others(2): Show a0001c0089t0001g0225 a0001c0142t0001g0284 a0064c0076t0007g0042 a0067c0100t0001g0038 a0071c0095t0002g0036	5	412	0.0121	0	c.164 others(6): Show c.1642-8C>T		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	17/66					chr19	TogoVar
COL5A3_chr19_9954561_10015504	9996260	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(159): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18998.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(49): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0034 a0035 a0037 a0039 a0040 a0041 a0047 a0048 a0051 a0052 a0053 a0054 a0056 a0057 a0058 a0059 a0060 a0063 a0064 a0066 a0067 a0068 a0069 a0071 a0073 a0074 a0076	a0001c0016 a0001c0045 a0001c0089 others(75): Show a0001c0016 a0001c0045 a0001c0089 a0001c0117 a0001c0142 a0002c0002 a0002c0034 a0002c0053 a0002c0083 a0002c0126 a0002c0130 a0002c0139 a0003c0125 a0005c0070 a0006c0022 a0006c0055 a0007c0138 a0009c0007 a0010c0015 a0010c0044 a0010c0119 a0010c0140 a0012c0087 a0013c0008 a0014c0012 a0014c0064 a0014c0065 a0015c0050 a0015c0104 a0016c0036 a0016c0037 a0016c0074 a0016c0107 a0017c0026 a0017c0120 a0019c0069 a0020c0035 a0020c0097 a0021c0066 a0022c0030 a0025c0031 a0026c0056 a0026c0086 a0027c0054 a0027c0084 a0028c0105 a0029c0088 a0029c0124 a0031c0043 a0032c0085 a0032c0122 a0034c0131 a0035c0047 a0037c0046 a0039c0067 a0040c0068 a0041c0063 a0047c0133 a0048c0137 a0051c0127 a0052c0128 a0053c0129 a0054c0118 a0056c0121 a0057c0141 a0058c0132 a0059c0090 a0060c0123 a0063c0134 a0064c0076 a0066c0106 a0067c0100 a0068c0101 a0069c0099 a0071c0095 a0073c0096 a0074c0094 a0076c0143	a0001c0016t0001 a0001c0016t0002 a0001c0045t0001 others(91): Show a0001c0016t0001 a0001c0016t0002 a0001c0045t0001 a0001c0045t0002 a0001c0089t0001 a0001c0117t0005 a0001c0142t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0034t0002 a0002c0053t0001 a0002c0083t0005 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0003c0125t0003 a0005c0070t0002 a0006c0022t0007 a0006c0022t0011 a0006c0055t0001 a0006c0055t0002 a0007c0138t0003 a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0119t0002 a0010c0140t0001 a0012c0087t0001 a0013c0008t0001 a0014c0012t0001 a0014c0064t0001 a0014c0065t0001 a0015c0050t0001 a0015c0050t0005 a0015c0104t0003 a0016c0036t0001 a0016c0036t0002 a0016c0037t0002 a0016c0074t0002 a0016c0107t0002 a0017c0026t0002 a0017c0120t0002 a0019c0069t0002 a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 a0022c0030t0002 a0025c0031t0001 a0025c0031t0004 a0026c0056t0002 a0026c0086t0002 a0027c0054t0013 a0027c0084t0012 a0028c0105t0003 a0029c0088t0002 a0029c0124t0001 a0031c0043t0006 a0031c0043t0007 a0032c0085t0012 a0032c0122t0001 a0034c0131t0001 a0035c0047t0001 a0037c0046t0003 a0039c0067t0002 a0040c0068t0003 a0041c0063t0012 a0047c0133t0001 a0048c0137t0002 a0051c0127t0003 a0052c0128t0001 a0053c0129t0006 a0054c0118t0002 a0056c0121t0001 a0057c0141t0002 a0058c0132t0020 a0059c0090t0003 a0060c0123t0001 a0063c0134t0001 a0064c0076t0007 a0066c0106t0002 a0067c0100t0001 a0068c0101t0004 a0069c0099t0002 a0071c0095t0002 a0073c0096t0002 a0074c0094t0001 a0076c0143t0010	a0001c0016t0001g0233 a0001c0016t0001g0278 a0001c0016t0001g0372 others(157): Show a0001c0016t0001g0233 a0001c0016t0001g0278 a0001c0016t0001g0372 a0001c0016t0002g0001 a0001c0016t0002g0366 a0001c0045t0001g0140 a0001c0045t0002g0032 a0001c0089t0001g0225 a0001c0117t0005g0248 a0001c0142t0001g0284 a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0337 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0034t0002g0121 a0002c0034t0002g0163 a0002c0034t0002g0258 a0002c0053t0001g0344 a0002c0053t0001g0382 a0002c0083t0005g0156 a0002c0126t0001g0118 a0002c0130t0001g0314 a0002c0139t0002g0059 a0003c0125t0003g0369 a0005c0070t0002g0265 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0006c0055t0001g0399 a0006c0055t0002g0305 a0007c0138t0003g0064 a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 a0009c0007t0001g0231 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0010c0044t0002g0268 a0010c0044t0021g0340 a0010c0119t0002g0397 a0010c0140t0001g0063 a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0014c0064t0001g0180 a0014c0065t0001g0206 a0015c0050t0001g0145 a0015c0050t0005g0222 a0015c0104t0003g0241 a0016c0036t0001g0236 a0016c0036t0001g0237 a0016c0036t0002g0148 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134 a0016c0107t0002g0235 a0017c0026t0002g0391 a0017c0026t0002g0392 a0017c0026t0002g0401 a0017c0026t0002g0402 a0017c0120t0002g0400 a0019c0069t0002g0334 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0027c0054t0013g0004 a0027c0054t0013g0005 a0027c0084t0012g0167 a0028c0105t0003g0223 a0029c0088t0002g0255 a0029c0124t0001g0217 a0031c0043t0006g0055 a0031c0043t0007g0054 a0032c0085t0012g0146 a0032c0122t0001g0170 a0034c0131t0001g0292 a0035c0047t0001g0275 a0035c0047t0001g0276 a0037c0046t0003g0027 a0037c0046t0003g0030 a0039c0067t0002g0335 a0040c0068t0003g0172 a0041c0063t0012g0190 a0047c0133t0001g0367 a0048c0137t0002g0060 a0051c0127t0003g0252 a0052c0128t0001g0277 a0053c0129t0006g0058 a0054c0118t0002g0287 a0056c0121t0001g0406 a0057c0141t0002g0067 a0058c0132t0020g0208 a0059c0090t0003g0126 a0060c0123t0001g0388 a0063c0134t0001g0304 a0064c0076t0007g0042 a0066c0106t0002g0043 a0067c0100t0001g0038 a0068c0101t0004g0039 a0069c0099t0002g0040 a0071c0095t0002g0036 a0073c0096t0002g0007 a0074c0094t0001g0028 a0076c0143t0010g0409	162	412	0.3932	0	c.142 others(4): Show c.1425C>G	p.Leu others(6): Show p.Leu475Leu	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	14/67	1544/6207	1425/5238	475/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9996617	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0063 a0063	a0063c0134 a0063c0134	a0063c0134t0001 a0063c0134t0001	a0063c0134t0001g0304 a0063c0134t0001g0304	1	412	0.0024	0	c.133 others(4): Show c.1336C>T	p.Pro others(6): Show p.Pro446Ser	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	12/67	1455/6207	1336/5238	446/1745		chr19	TogoVar
COL5A3_chr19_9954561_10015504	10001670	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(371): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 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 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.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 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(65): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075	a0001c0001 a0001c0003 a0001c0016 others(123): Show a0001c0001 a0001c0003 a0001c0016 a0001c0024 a0001c0033 a0001c0040 a0001c0045 a0001c0057 a0001c0089 a0001c0111 a0001c0112 a0001c0114 a0001c0117 a0001c0142 a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0053 a0002c0083 a0002c0126 a0002c0130 a0002c0139 a0003c0009 a0003c0011 a0003c0125 a0003c0136 a0004c0010 a0004c0013 a0004c0108 a0004c0113 a0005c0005 a0005c0029 a0005c0070 a0006c0014 a0006c0022 a0006c0055 a0006c0081 a0006c0082 a0007c0021 a0007c0023 a0007c0032 a0007c0051 a0007c0138 a0008c0004 a0008c0092 a0010c0015 a0010c0044 a0010c0052 a0010c0119 a0010c0140 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0012c0087 a0013c0008 a0014c0012 a0014c0064 a0014c0065 a0017c0026 a0017c0120 a0018c0018 a0019c0028 a0019c0069 a0020c0035 a0020c0097 a0021c0038 a0021c0066 a0022c0030 a0023c0027 a0024c0039 a0024c0060 a0025c0031 a0026c0056 a0026c0086 a0027c0054 a0027c0084 a0029c0088 a0029c0124 a0030c0080 a0030c0135 a0031c0043 a0032c0085 a0032c0122 a0033c0042 a0034c0078 a0034c0131 a0035c0047 a0037c0046 a0038c0058 a0039c0067 a0040c0068 a0041c0063 a0042c0059 a0043c0061 a0044c0062 a0045c0071 a0046c0075 a0047c0133 a0048c0137 a0049c0079 a0050c0115 a0051c0127 a0052c0128 a0053c0129 a0054c0118 a0055c0116 a0056c0121 a0057c0141 a0058c0132 a0059c0090 a0060c0123 a0061c0109 a0062c0110 a0063c0134 a0064c0076 a0067c0100 a0068c0101 a0069c0099 a0070c0098 a0071c0095 a0072c0093 a0073c0096 a0074c0094 a0075c0091	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(164): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0016t0001 a0001c0016t0002 a0001c0024t0001 a0001c0024t0002 a0001c0033t0002 a0001c0033t0011 a0001c0040t0005 a0001c0045t0001 a0001c0045t0002 a0001c0057t0001 a0001c0089t0001 a0001c0111t0001 a0001c0112t0004 a0001c0114t0001 a0001c0117t0005 a0001c0142t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0041t0002 a0002c0053t0001 a0002c0083t0005 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0125t0003 a0003c0136t0009 a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0004c0113t0001 a0005c0005t0001 a0005c0005t0005 a0005c0005t0010 a0005c0005t0017 a0005c0029t0001 a0005c0070t0002 a0006c0014t0001 a0006c0022t0007 a0006c0022t0011 a0006c0055t0001 a0006c0055t0002 a0006c0081t0001 a0006c0082t0007 a0007c0021t0008 a0007c0023t0003 a0007c0032t0007 a0007c0032t0008 a0007c0051t0003 a0007c0051t0007 a0007c0138t0003 a0008c0004t0001 a0008c0004t0002 a0008c0092t0002 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0052t0001 a0010c0052t0010 a0010c0119t0002 a0010c0140t0001 a0011c0006t0003 a0011c0006t0006 a0011c0006t0009 a0011c0006t0016 a0011c0006t0018 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0012c0025t0002 a0012c0025t0003 a0012c0077t0001 a0012c0087t0001 a0013c0008t0001 a0014c0012t0001 a0014c0064t0001 a0014c0065t0001 a0017c0026t0002 a0017c0120t0002 a0018c0018t0003 a0018c0018t0006 a0018c0018t0009 a0019c0028t0001 a0019c0028t0002 a0019c0069t0002 a0020c0035t0002 a0020c0097t0002 a0021c0038t0001 a0021c0066t0003 a0022c0030t0002 a0023c0027t0002 a0024c0039t0014 a0024c0060t0015 a0025c0031t0001 a0025c0031t0004 a0026c0056t0002 a0026c0086t0002 a0027c0054t0013 a0027c0084t0012 a0029c0088t0002 a0029c0124t0001 a0030c0080t0015 a0030c0135t0004 a0031c0043t0006 a0031c0043t0007 a0032c0085t0012 a0032c0122t0001 a0033c0042t0001 a0034c0078t0001 a0034c0131t0001 a0035c0047t0001 a0037c0046t0003 a0038c0058t0001 a0039c0067t0002 a0040c0068t0003 a0041c0063t0012 a0042c0059t0001 a0043c0061t0003 a0044c0062t0003 a0045c0071t0004 a0046c0075t0007 a0047c0133t0001 a0048c0137t0002 a0049c0079t0003 a0050c0115t0002 a0051c0127t0003 a0052c0128t0001 a0053c0129t0006 a0054c0118t0002 a0055c0116t0002 a0056c0121t0001 a0057c0141t0002 a0058c0132t0020 a0059c0090t0003 a0060c0123t0001 a0061c0109t0004 a0062c0110t0001 a0063c0134t0001 a0064c0076t0007 a0067c0100t0001 a0068c0101t0004 a0069c0099t0002 a0070c0098t0001 a0071c0095t0002 a0072c0093t0001 a0073c0096t0002 a0074c0094t0001 a0075c0091t0004	a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 others(368): Show a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0378 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0002g0279 a0001c0001t0002g0328 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0004g0080 a0001c0001t0004g0084 a0001c0001t0005g0092 a0001c0001t0005g0094 a0001c0003t0001g0068 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0216 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0271 a0001c0003t0001g0283 a0001c0003t0001g0298 a0001c0003t0001g0302 a0001c0003t0002g0137 a0001c0003t0002g0300 a0001c0003t0002g0301 a0001c0003t0005g0339 a0001c0016t0001g0233 a0001c0016t0001g0278 a0001c0016t0001g0372 a0001c0016t0002g0001 a0001c0016t0002g0366 a0001c0024t0001g0273 a0001c0024t0001g0274 a0001c0024t0001g0343 a0001c0024t0002g0272 a0001c0033t0002g0153 a0001c0033t0011g0154 a0001c0033t0011g0168 a0001c0040t0005g0127 a0001c0040t0005g0158 a0001c0045t0001g0140 a0001c0045t0002g0032 a0001c0057t0001g0061 a0001c0057t0001g0062 a0001c0089t0001g0225 a0001c0111t0001g0324 a0001c0112t0004g0133 a0001c0114t0001g0246 a0001c0117t0005g0248 a0001c0142t0001g0284 a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0337 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0020t0001g0070 a0002c0020t0001g0105 a0002c0020t0001g0232 a0002c0020t0002g0096 a0002c0020t0002g0404 a0002c0034t0002g0121 a0002c0034t0002g0163 a0002c0034t0002g0258 a0002c0041t0001g0215 a0002c0041t0002g0026 a0002c0053t0001g0344 a0002c0053t0001g0382 a0002c0083t0005g0156 a0002c0126t0001g0118 a0002c0130t0001g0314 a0002c0139t0002g0059 a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0348 a0003c0009t0003g0349 a0003c0009t0003g0357 a0003c0009t0003g0385 a0003c0009t0003g0395 a0003c0011t0003g0057 a0003c0011t0003g0138 a0003c0011t0003g0142 a0003c0011t0006g0212 a0003c0011t0006g0214 a0003c0011t0006g0341 a0003c0011t0009g0280 a0003c0011t0009g0281 a0003c0125t0003g0369 a0003c0136t0009g0066 a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0004c0108t0004g0362 a0004c0113t0001g0286 a0005c0005t0001g0071 a0005c0005t0001g0107 a0005c0005t0001g0176 a0005c0005t0001g0177 a0005c0005t0001g0179 a0005c0005t0001g0193 a0005c0005t0001g0196 a0005c0005t0001g0197 a0005c0005t0005g0129 a0005c0005t0010g0261 a0005c0005t0017g0184 a0005c0029t0001g0262 a0005c0029t0001g0263 a0005c0029t0001g0264 a0005c0070t0002g0265 a0006c0014t0001g0330 a0006c0014t0001g0331 a0006c0014t0001g0379 a0006c0014t0001g0380 a0006c0014t0001g0386 a0006c0014t0001g0387 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0006c0055t0001g0399 a0006c0055t0002g0305 a0006c0081t0001g0166 a0006c0082t0007g0169 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0023t0003g0119 a0007c0023t0003g0135 a0007c0023t0003g0269 a0007c0023t0003g0299 a0007c0032t0007g0114 a0007c0032t0008g0037 a0007c0032t0008g0128 a0007c0051t0003g0082 a0007c0051t0007g0245 a0007c0138t0003g0064 a0008c0004t0001g0008 a0008c0004t0001g0015 a0008c0004t0001g0016 a0008c0004t0001g0017 a0008c0004t0001g0018 a0008c0004t0001g0022 a0008c0004t0001g0023 a0008c0004t0001g0024 a0008c0004t0001g0031 a0008c0004t0002g0012 a0008c0004t0002g0013 a0008c0004t0002g0029 a0008c0004t0002g0035 a0008c0092t0002g0021 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0010c0044t0002g0268 a0010c0044t0021g0340 a0010c0052t0001g0102 a0010c0052t0010g0333 a0010c0119t0002g0397 a0010c0140t0001g0063 a0011c0006t0003g0132 a0011c0006t0003g0174 a0011c0006t0003g0175 a0011c0006t0003g0186 a0011c0006t0003g0188 a0011c0006t0006g0181 a0011c0006t0006g0189 a0011c0006t0006g0194 a0011c0006t0009g0130 a0011c0006t0016g0171 a0011c0006t0018g0056 a0012c0017t0001g0120 a0012c0017t0001g0141 a0012c0017t0001g0143 a0012c0017t0001g0144 a0012c0017t0002g0270 a0012c0025t0001g0151 a0012c0025t0001g0347 a0012c0025t0002g0317 a0012c0025t0003g0394 a0012c0077t0001g0113 a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0014c0064t0001g0180 a0014c0065t0001g0206 a0017c0026t0002g0391 a0017c0026t0002g0392 a0017c0026t0002g0401 a0017c0026t0002g0402 a0017c0120t0002g0400 a0018c0018t0003g0010 a0018c0018t0003g0011 a0018c0018t0006g0009 a0018c0018t0009g0019 a0018c0018t0009g0020 a0019c0028t0001g0185 a0019c0028t0001g0259 a0019c0028t0002g0173 a0019c0069t0002g0334 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0038t0001g0108 a0021c0038t0001g0111 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0023c0027t0002g0178 a0023c0027t0002g0198 a0023c0027t0002g0199 a0024c0039t0014g0182 a0024c0039t0014g0192 a0024c0060t0015g0183 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0027c0054t0013g0004 a0027c0054t0013g0005 a0027c0084t0012g0167 a0029c0088t0002g0255 a0029c0124t0001g0217 a0030c0080t0015g0110 a0030c0135t0004g0336 a0031c0043t0006g0055 a0031c0043t0007g0054 a0032c0085t0012g0146 a0032c0122t0001g0170 a0033c0042t0001g0115 a0033c0042t0001g0116 a0034c0078t0001g0389 a0034c0131t0001g0292 a0035c0047t0001g0275 a0035c0047t0001g0276 a0037c0046t0003g0027 a0037c0046t0003g0030 a0038c0058t0001g0209 a0039c0067t0002g0335 a0040c0068t0003g0172 a0041c0063t0012g0190 a0042c0059t0001g0187 a0043c0061t0003g0260 a0044c0062t0003g0191 a0045c0071t0004g0155 a0046c0075t0007g0053 a0047c0133t0001g0367 a0048c0137t0002g0060 a0049c0079t0003g0338 a0050c0115t0002g0390 a0051c0127t0003g0252 a0052c0128t0001g0277 a0053c0129t0006g0058 a0054c0118t0002g0287 a0055c0116t0002g0112 a0056c0121t0001g0406 a0057c0141t0002g0067 a0058c0132t0020g0208 a0059c0090t0003g0126 a0060c0123t0001g0388 a0061c0109t0004g0081 a0062c0110t0001g0326 a0063c0134t0001g0304 a0064c0076t0007g0042 a0067c0100t0001g0038 a0068c0101t0004g0039 a0069c0099t0002g0040 a0070c0098t0001g0006 a0071c0095t0002g0036 a0072c0093t0001g0282 a0073c0096t0002g0007 a0074c0094t0001g0028 a0075c0091t0004g0014	374	412	0.9078	0	c.964 others(3): Show c.964A>G	p.Arg others(6): Show p.Arg322Gly	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/67	1083/6207	964/5238	322/1745		chr19	TogoVar
COL6A1_chr21_45976770_46010048	45990826	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0049 a0001c0018t0001g0049	1	128	0.0078	0	c.105 others(4): Show c.1056C>T	p.Asp others(6): Show p.Asp352Asp	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	14/35	1137/4203	1056/3087	352/1028		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45992740	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG03195.hp1 HG02559.hp2 HG03195.hp1	a0001 a0013 a0001 a0013	a0001c0018 a0013c0020 a0001c0018 a0013c0020	a0001c0018t0001 a0013c0020t0002 a0001c0018t0001 a0013c0020t0002	a0001c0018t0001g0049 a0013c0020t0002g0002 a0001c0018t0001g0049 a0013c0020t0002g0002	2	128	0.0156	0	c.127 others(6): Show c.1273-8C>T		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	18/34					chr21	TogoVar
COL6A1_chr21_45976770_46010048	45998892	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0005 a0007c0036t0005	a0007c0036t0005g0083 a0007c0036t0005g0083	1	128	0.0078	0	c.161 others(6): Show c.1612-5T>C		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	24/34					chr21	TogoVar
COL6A1_chr21_45976770_46010048	46001956	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	128	0.0078	0	c.195 others(6): Show c.1957-5C>T		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	30/34					chr21	TogoVar
COL6A2_chr21_46093112_46134801	46117942	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0130 a0001c0005t0001g0130	1	372	0.0027	0	c.111 others(6): Show c.1116+6T>G		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	12/27					chr21	TogoVar
COL6A2_chr21_46093112_46134801	46120507	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(107): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0013 others(9): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0003c0004 a0003c0007 a0003c0018 a0003c0033 a0007c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0003c0004t0002 a0003c0007t0001 a0003c0007t0002 a0003c0007t0007 a0003c0018t0003 a0003c0033t0007 a0007c0042t0002	a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0002t0002g0001 others(89): Show a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0007g0201 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0002t0009g0334 a0001c0002t0009g0338 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0013t0002g0001 a0001c0013t0002g0275 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0025t0002g0282 a0001c0031t0002g0299 a0003c0004t0002g0044 a0003c0007t0001g0204 a0003c0007t0002g0022 a0003c0007t0007g0013 a0003c0007t0007g0042 a0003c0007t0007g0043 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0196 a0003c0007t0007g0197 a0003c0007t0007g0203 a0003c0007t0007g0205 a0003c0007t0007g0206 a0003c0018t0003g0242 a0003c0018t0003g0243 a0003c0033t0007g0202 a0007c0042t0002g0287	110	372	0.2957	0	c.133 others(6): Show c.1333-8T>C		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	15/27					chr21	TogoVar
COL6A2_chr21_46093112_46134801	46124924	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0013 a0001c0014 others(9): Show a0001c0002 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0027 a0001c0031 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0007c0042	a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(14): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0027t0003 a0001c0031t0002 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0007c0042t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 others(74): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0013t0002g0001 a0001c0013t0002g0275 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0025t0002g0282 a0001c0027t0003g0252 a0001c0031t0002g0299 a0003c0004t0001g0312 a0003c0004t0002g0044 a0003c0004t0002g0260 a0003c0004t0002g0314 a0003c0004t0002g0328 a0003c0007t0002g0022 a0003c0017t0002g0310 a0003c0017t0002g0313 a0003c0041t0002g0261 a0007c0042t0002g0287	93	372	0.2500	0	c.177 others(6): Show c.1770+4G>A		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	23/27					chr21	TogoVar
COL6A2_chr21_46093112_46134801	46129801	C C	T T	splice_region_variant splice_region_variant	LOW	HG00438.hp2 HG00639.hp1 HG01074.hp1 others(32): Show HG00438.hp2 HG00639.hp1 HG01074.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01884.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA18977.hp1 NA18999.hp1 NA19043.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0006 a0001c0022 a0001c0026 others(4): Show a0001c0006 a0001c0022 a0001c0026 a0001c0028 a0002c0003 a0003c0004 a0009c0032	a0001c0006t0006 a0001c0022t0006 a0001c0026t0006 others(7): Show a0001c0006t0006 a0001c0022t0006 a0001c0026t0006 a0001c0028t0006 a0002c0003t0006 a0003c0004t0004 a0003c0004t0006 a0003c0004t0011 a0003c0004t0014 a0009c0032t0006	a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 others(31): Show a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0022t0006g0050 a0001c0026t0006g0049 a0001c0028t0006g0247 a0002c0003t0006g0065 a0002c0003t0006g0067 a0003c0004t0004g0014 a0003c0004t0004g0045 a0003c0004t0004g0097 a0003c0004t0004g0198 a0003c0004t0004g0199 a0003c0004t0004g0207 a0003c0004t0004g0208 a0003c0004t0004g0209 a0003c0004t0004g0211 a0003c0004t0004g0212 a0003c0004t0004g0213 a0003c0004t0004g0215 a0003c0004t0004g0216 a0003c0004t0004g0217 a0003c0004t0004g0219 a0003c0004t0004g0220 a0003c0004t0004g0234 a0003c0004t0006g0210 a0003c0004t0011g0193 a0003c0004t0011g0200 a0003c0004t0014g0214 a0009c0032t0006g0229	35	372	0.0941	0	c.31 others(4): Show c.310C>T		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	28/28					chr21	TogoVar
COL6A2_chr21_46093112_46137848	46117942	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	364	0.0028	0	c.111 others(6): Show c.1116+6T>G		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	12/27					chr21	TogoVar
COL6A2_chr21_46093112_46137848	46120507	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(106): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0010	a0001c0001 a0001c0002 a0001c0009 others(14): Show a0001c0001 a0001c0002 a0001c0009 a0001c0023 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0044 a0001c0050 a0003c0008 a0003c0016 a0003c0032 a0003c0054 a0003c0063 a0008c0027 a0010c0066	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0009t0001 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0003 a0001c0050t0002 a0003c0008t0003 a0003c0016t0001 a0003c0016t0002 a0003c0032t0001 a0003c0054t0003 a0003c0063t0001 a0008c0027t0003 a0010c0066t0002	a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0002t0001g0322 others(91): Show a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0044t0003g0197 a0001c0050t0002g0298 a0003c0008t0003g0044 a0003c0008t0003g0045 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0016t0001g0200 a0003c0016t0002g0023 a0003c0032t0001g0240 a0003c0032t0001g0241 a0003c0054t0003g0198 a0003c0063t0001g0046 a0008c0027t0003g0013 a0010c0066t0002g0283	109	364	0.2995	0	c.133 others(6): Show c.1333-8T>C		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	15/27					chr21	TogoVar
COL6A2_chr21_46093112_46137848	46124924	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0002 a0001c0023 a0001c0024 others(11): Show a0001c0002 a0001c0023 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0046 a0001c0050 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0010c0066	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(18): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0046t0001 a0001c0050t0002 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0010c0066t0002	a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0046t0001g0249 a0001c0050t0002g0298 a0003c0010t0001g0310 a0003c0010t0002g0325 a0003c0016t0002g0023 a0003c0063t0001g0046 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0065t0002g0311 a0010c0066t0002g0283	91	364	0.2500	0	c.177 others(6): Show c.1770+4G>A		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	23/27					chr21	TogoVar
COL6A3_chr2_237319018_237419164	237360162	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0005 a0021c0029t0005	a0021c0029t0005g0168 a0021c0029t0005g0168	1	322	0.0031	0	c.621 others(6): Show c.6211-3C>T		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	16/43					chr2	TogoVar
COL6A3_chr2_237319018_237419164	237361735	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG02735.hp2 HG04115.hp1 HG01255.hp2 HG02735.hp2 HG04115.hp1	a0005 a0005	a0005c0012 a0005c0090 a0005c0012 a0005c0090	a0005c0012t0002 a0005c0012t0003 a0005c0090t0003 a0005c0012t0002 a0005c0012t0003 a0005c0090t0003	a0005c0012t0002g0300 a0005c0012t0003g0132 a0005c0090t0003g0122 a0005c0012t0002g0300 a0005c0012t0003g0132 a0005c0090t0003g0122	3	322	0.0093	0	c.615 others(6): Show c.6156+4C>T		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	15/43					chr2	TogoVar
COL6A3_chr2_237319018_237419164	237361837	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0050 a0002c0001t0001g0050	1	322	0.0031	0	c.606 others(6): Show c.6064-6C>T		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	14/43					chr2	TogoVar
COL6A3_chr2_237319018_237419164	237394589	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0035 a0035	a0035c0047 a0035c0047	a0035c0047t0002 a0035c0047t0002	a0035c0047t0002g0123 a0035c0047t0002g0123	1	322	0.0031	0	c.707 others(3): Show c.707C>A	p.Thr others(6): Show p.Thr236Lys	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	3/44	949/10532	707/9534	236/3177		chr2	TogoVar
COL6A5_chr3_130340672_130489846	130373709	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02257.hp1 HG02258.hp1 others(3): Show HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02895.hp2 NA19030.hp1	a0006 a0007 a0059 others(1): Show a0006 a0007 a0059 a0081	a0006c0005 a0007c0064 a0059c0073 others(1): Show a0006c0005 a0007c0064 a0059c0073 a0081c0080	a0006c0005t0003 a0007c0064t0006 a0059c0073t0003 others(1): Show a0006c0005t0003 a0007c0064t0006 a0059c0073t0003 a0081c0080t0011	a0006c0005t0003g0017 a0006c0005t0003g0039 a0006c0005t0003g0041 others(3): Show a0006c0005t0003g0017 a0006c0005t0003g0039 a0006c0005t0003g0041 a0007c0064t0006g0038 a0059c0073t0003g0040 a0081c0080t0011g0059	6	292	0.0206	0	c.67+ others(4): Show c.67+4T>C		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	2/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130379414	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02922.hp2	a0037 a0071 a0072 a0037 a0071 a0072	a0037c0032 a0071c0071 a0072c0072 a0037c0032 a0071c0071 a0072c0072	a0037c0032t0001 a0037c0032t0005 a0071c0071t0001 others(1): Show a0037c0032t0001 a0037c0032t0005 a0071c0071t0001 a0072c0072t0001	a0037c0032t0001g0181 a0037c0032t0005g0057 a0071c0071t0001g0180 others(1): Show a0037c0032t0001g0181 a0037c0032t0005g0057 a0071c0071t0001g0180 a0072c0072t0001g0182	4	292	0.0137	0	c.668 others(5): Show c.668-4A>G		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	3/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130385363	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp2 HG00408.hp2 HG00544.hp1 others(148): Show HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0007 others(56): Show a0002 a0003 a0007 a0008 a0010 a0013 a0014 a0015 a0016 a0018 a0019 a0023 a0024 a0025 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090	a0002c0002 a0002c0034 a0002c0047 others(64): Show a0002c0002 a0002c0034 a0002c0047 a0003c0004 a0003c0025 a0003c0079 a0007c0008 a0007c0064 a0007c0081 a0008c0010 a0008c0026 a0010c0007 a0013c0016 a0013c0075 a0014c0013 a0015c0015 a0016c0020 a0018c0018 a0019c0017 a0023c0021 a0024c0022 a0025c0041 a0032c0100 a0033c0029 a0034c0027 a0035c0028 a0036c0030 a0037c0032 a0038c0043 a0039c0031 a0040c0042 a0041c0033 a0042c0103 a0043c0104 a0058c0107 a0059c0073 a0060c0074 a0061c0053 a0062c0054 a0063c0055 a0064c0061 a0065c0060 a0066c0057 a0067c0058 a0068c0059 a0069c0056 a0070c0070 a0071c0071 a0072c0072 a0073c0066 a0074c0106 a0075c0067 a0076c0068 a0077c0065 a0078c0062 a0079c0063 a0080c0069 a0081c0080 a0082c0045 a0083c0046 a0084c0049 a0085c0048 a0086c0050 a0087c0076 a0088c0051 a0089c0102 a0090c0052	a0002c0002t0001 a0002c0002t0002 a0002c0034t0001 others(78): Show a0002c0002t0001 a0002c0002t0002 a0002c0034t0001 a0002c0034t0002 a0002c0047t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0011 a0003c0025t0001 a0003c0025t0002 a0003c0079t0001 a0007c0008t0003 a0007c0064t0006 a0007c0081t0002 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0010c0007t0001 a0010c0007t0009 a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0014c0013t0001 a0015c0015t0001 a0015c0015t0002 a0015c0015t0009 a0016c0020t0001 a0018c0018t0001 a0018c0018t0005 a0019c0017t0001 a0019c0017t0003 a0023c0021t0006 a0024c0022t0001 a0025c0041t0001 a0032c0100t0002 a0033c0029t0001 a0034c0027t0001 a0035c0028t0001 a0036c0030t0002 a0037c0032t0001 a0037c0032t0005 a0038c0043t0001 a0038c0043t0003 a0039c0031t0006 a0040c0042t0011 a0041c0033t0008 a0042c0103t0002 a0043c0104t0002 a0058c0107t0003 a0059c0073t0003 a0060c0074t0002 a0061c0053t0001 a0062c0054t0001 a0063c0055t0001 a0064c0061t0002 a0065c0060t0005 a0066c0057t0008 a0067c0058t0001 a0068c0059t0001 a0069c0056t0001 a0070c0070t0003 a0071c0071t0001 a0072c0072t0001 a0073c0066t0006 a0074c0106t0003 a0075c0067t0001 a0076c0068t0003 a0077c0065t0001 a0078c0062t0003 a0079c0063t0003 a0080c0069t0001 a0081c0080t0011 a0082c0045t0001 a0083c0046t0007 a0084c0049t0001 a0085c0048t0001 a0086c0050t0001 a0087c0076t0001 a0088c0051t0001 a0089c0102t0005 a0090c0052t0003	a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0110 others(143): Show a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0110 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0150 a0002c0002t0001g0172 a0002c0002t0001g0211 a0002c0002t0002g0032 a0002c0002t0002g0227 a0002c0034t0001g0154 a0002c0034t0002g0231 a0002c0047t0001g0111 a0003c0004t0001g0018 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0093 a0003c0004t0001g0147 a0003c0004t0001g0151 a0003c0004t0001g0155 a0003c0004t0001g0179 a0003c0004t0002g0221 a0003c0004t0011g0073 a0003c0025t0001g0124 a0003c0025t0002g0257 a0003c0079t0001g0107 a0007c0008t0003g0001 a0007c0008t0003g0062 a0007c0008t0003g0063 a0007c0008t0003g0065 a0007c0008t0003g0066 a0007c0008t0003g0069 a0007c0008t0003g0070 a0007c0064t0006g0038 a0007c0081t0002g0262 a0008c0010t0001g0108 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0169 a0008c0010t0005g0045 a0008c0026t0009g0164 a0008c0026t0009g0165 a0010c0007t0001g0105 a0010c0007t0001g0136 a0010c0007t0001g0140 a0010c0007t0001g0163 a0010c0007t0001g0167 a0010c0007t0001g0170 a0010c0007t0009g0162 a0010c0007t0009g0166 a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0015c0015t0001g0005 a0015c0015t0001g0125 a0015c0015t0002g0226 a0015c0015t0009g0168 a0016c0020t0001g0171 a0016c0020t0001g0272 a0016c0020t0001g0273 a0016c0020t0001g0275 a0018c0018t0001g0158 a0018c0018t0005g0053 a0018c0018t0005g0054 a0018c0018t0005g0055 a0019c0017t0001g0153 a0019c0017t0003g0277 a0019c0017t0003g0278 a0019c0017t0003g0279 a0023c0021t0006g0002 a0023c0021t0006g0080 a0024c0022t0001g0152 a0024c0022t0001g0156 a0024c0022t0001g0157 a0025c0041t0001g0177 a0025c0041t0001g0178 a0032c0100t0002g0232 a0033c0029t0001g0117 a0033c0029t0001g0120 a0034c0027t0001g0006 a0035c0028t0001g0099 a0035c0028t0001g0104 a0036c0030t0002g0212 a0036c0030t0002g0213 a0037c0032t0001g0181 a0037c0032t0005g0057 a0038c0043t0001g0183 a0038c0043t0003g0079 a0039c0031t0006g0067 a0039c0031t0006g0068 a0040c0042t0011g0074 a0040c0042t0011g0090 a0041c0033t0008g0173 a0041c0033t0008g0174 a0042c0103t0002g0091 a0043c0104t0002g0092 a0058c0107t0003g0072 a0059c0073t0003g0040 a0060c0074t0002g0034 a0061c0053t0001g0175 a0062c0054t0001g0160 a0063c0055t0001g0116 a0064c0061t0002g0267 a0065c0060t0005g0042 a0066c0057t0008g0187 a0067c0058t0001g0024 a0068c0059t0001g0210 a0069c0056t0001g0114 a0070c0070t0003g0064 a0071c0071t0001g0180 a0072c0072t0001g0182 a0073c0066t0006g0060 a0074c0106t0003g0078 a0075c0067t0001g0159 a0076c0068t0003g0052 a0077c0065t0001g0161 a0078c0062t0003g0216 a0079c0063t0003g0215 a0080c0069t0001g0134 a0081c0080t0011g0059 a0082c0045t0001g0118 a0083c0046t0007g0033 a0084c0049t0001g0126 a0085c0048t0001g0025 a0086c0050t0001g0132 a0087c0076t0001g0274 a0088c0051t0001g0137 a0089c0102t0005g0056 a0090c0052t0003g0011	151	292	0.5171	0	c.186 others(4): Show c.1860A>G	p.Lys others(6): Show p.Lys620Lys	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	5/41	2198/8969	1860/7845	620/2614		chr3	TogoVar
COL6A5_chr3_130340672_130489846	130401024	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0003 a0019c0017t0003	a0019c0017t0003g0279 a0019c0017t0003g0279	1	292	0.0034	0	c.399 others(6): Show c.3992-7C>T		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	10/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130406025	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0036 a0036	a0036c0030 a0036c0030	a0036c0030t0002 a0036c0030t0002	a0036c0030t0002g0212 a0036c0030t0002g0212	1	292	0.0034	0	c.438 others(6): Show c.4380+6G>A		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	15/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130406327	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0064 a0007c0064	a0007c0064t0006 a0007c0064t0006	a0007c0064t0006g0038 a0007c0064t0006g0038	1	292	0.0034	0	c.447 others(6): Show c.4479+6A>G		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	17/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130409388	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show HG00140.hp2 HG01169.hp2 HG01361.hp2 HG02738.hp1 HG03831.hp2 HG03834.hp2 NA19062.hp1	a0013 a0053 a0013 a0053	a0013c0016 a0013c0075 a0053c0092 a0013c0016 a0013c0075 a0053c0092	a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 others(1): Show a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0053c0092t0002	a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 others(4): Show a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0053c0092t0002g0192	7	292	0.0240	0	c.454 others(4): Show c.4542G>A	p.Pro others(7): Show p.Pro1514Pro	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	18/41	4880/8969	4542/7845	1514/2614		chr3	TogoVar
COL6A5_chr3_130340672_130489846	130410003	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0090 a0090	a0090c0052 a0090c0052	a0090c0052t0003 a0090c0052t0003	a0090c0052t0003g0011 a0090c0052t0003g0011	1	292	0.0034	0	c.454 others(6): Show c.4543-6C>G		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	18/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130413180	CTCCCATG others(873): Show CTCCCATGGGAAGGCTCTGATTAGCAGACAGTGCTTTTTGGGATTTGCCG GAGAGGGAAATACAGGAGACAGGATCTTCAGGATGATTTGATTCTCTAAA CAGCCTCCTGGATAATTGTTAGAGGCTGTCAGACTGGAGCTGGGTCTGTA ATGACTTTTAGATTAGTTTGCAATCAGTCCCCCAAATGTTAGTCTCTAAT TAAGTGCCCAGTGTGAAAGCTTGTCTATGGAAAATGCCTCAGGGAAACTG TTTCTGTGAGCTGCTCATTACTTATGTCTAGCAGAGAATGAAAGAGGCTG ATTTGCCTCAAGGAACCCCTCCATTCAGACATCCACATACTAACAGTTTG CCTTTTCTGTCCCAGGGAAGAGAAGGTCAAAGGGGACTCCGAGGTGTCTC AGTAAGTAACCTTGACTTCCTGTTCTCTGTGGTTGATGGGACCAAGGAGG TTTCTCCCATGTAGGTGGTGCTGGGAATCATATCAATGAGCATTTTACAA GGGTATAGGAAGTGCCCAGTACTGGACGTGATCCCCACTGACCCAATAAT CACTGCAGCTCCCGGGAACAGAACAGACCTAAGGAAAAGCCTCCCTGATA GATACCTGGCAGACAGGCAGAACCTGTGCAATTCCAAATATTGTGCATTT GACTGCTCTTCATGTGCTTTGGGAATCAACTTCAAGAGAGAGAAATTCCT TATTGGAGTAAGAAACAAGTTTATGTTCATTCCTTAGACAGTCTAGAACT GTAAAATCCTAGGCCAAGTAGAGGGTGAGCCACAAGTCAGACAAAATAGT ACCTATTTCTGATGTAAATAGTATGAAAAGAAAATCTATATGGAAACAAC GTGTAGAAATGCTTGACACTGGAAACTCTTG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp2 HG01515.hp1 HG00642.hp2 HG01515.hp1	a0027 a0027	a0027c0089 a0027c0090 a0027c0089 a0027c0090	a0027c0089t0002 a0027c0090t0002 a0027c0089t0002 a0027c0090t0002	a0027c0089t0002g0200 a0027c0090t0002g0280 a0027c0089t0002g0200 a0027c0090t0002g0280	2	292	0.0069	-880	c.466 others(15): Show c.4663-363_4699-8del		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	21/41				INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130415638	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0002 a0003c0025t0002	a0003c0025t0002g0257 a0003c0025t0002g0257	1	292	0.0034	0	c.476 others(6): Show c.4762-7A>G		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	22/40					chr3	TogoVar
COL6A5_chr3_130340672_130489846	130431466	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show HG00140.hp2 HG01169.hp2 HG01361.hp2 HG02738.hp1 HG03831.hp2 HG03834.hp2 NA18982.hp1 NA18989.hp2 NA18995.hp1 NA19005.hp1 NA19062.hp1 NA19080.hp1 NA19083.hp1	a0013 a0014 a0053 a0013 a0014 a0053	a0013c0016 a0013c0075 a0014c0013 others(1): Show a0013c0016 a0013c0075 a0014c0013 a0053c0092	a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 others(2): Show a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0014c0013t0001 a0053c0092t0002	a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 others(10): Show a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0053c0092t0002g0192	13	292	0.0445	0	c.525 others(4): Show c.5250A>C	p.Glu others(7): Show p.Glu1750Asp	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	33/41	5588/8969	5250/7845	1750/2614		chr3	TogoVar

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