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
COL15A1_chr9_98938907_99075787	99035009	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02273.hp1 HG02273.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0129 a0014c0020t0001g0129	1	310	0.0032	0	c.208 others(6): Show c.2080-5T>C		COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	17/41					chr9	TogoVar
COL15A1_chr9_98938907_99075787	99042047	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp1 HG00621.hp2 HG01074.hp1 others(46): Show HG00280.hp1 HG00621.hp2 HG01074.hp1 HG01123.hp2 HG01175.hp1 HG01256.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02155.hp2 HG02273.hp1 HG02602.hp2 HG02647.hp1 HG02922.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19066.hp2 NA19076.hp2 NA19078.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0007 a0010 a0013 a0014 a0016 a0020 a0022 a0033 a0039 a0047 a0048 a0049	a0001c0013 a0002c0002 a0002c0069 others(14): Show a0001c0013 a0002c0002 a0002c0069 a0003c0036 a0005c0059 a0007c0037 a0010c0075 a0013c0047 a0014c0020 a0016c0064 a0020c0046 a0022c0026 a0033c0038 a0039c0050 a0047c0070 a0048c0068 a0049c0071	a0001c0013t0001 a0002c0002t0001 a0002c0069t0010 others(14): Show a0001c0013t0001 a0002c0002t0001 a0002c0069t0010 a0003c0036t0001 a0005c0059t0001 a0007c0037t0001 a0010c0075t0007 a0013c0047t0001 a0014c0020t0001 a0016c0064t0001 a0020c0046t0007 a0022c0026t0004 a0033c0038t0001 a0039c0050t0001 a0047c0070t0011 a0048c0068t0002 a0049c0071t0001	a0001c0013t0001g0015 a0001c0013t0001g0046 a0001c0013t0001g0064 others(46): Show a0001c0013t0001g0015 a0001c0013t0001g0046 a0001c0013t0001g0064 a0001c0013t0001g0068 a0001c0013t0001g0242 a0001c0013t0001g0257 a0002c0002t0001g0007 a0002c0002t0001g0018 a0002c0002t0001g0043 a0002c0002t0001g0053 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0195 a0002c0002t0001g0235 a0002c0002t0001g0245 a0002c0002t0001g0281 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0310 a0002c0069t0010g0047 a0003c0036t0001g0274 a0005c0059t0001g0112 a0007c0037t0001g0187 a0010c0075t0007g0002 a0013c0047t0001g0093 a0014c0020t0001g0058 a0014c0020t0001g0129 a0014c0020t0001g0131 a0014c0020t0001g0294 a0016c0064t0001g0077 a0020c0046t0007g0004 a0022c0026t0004g0139 a0022c0026t0004g0201 a0033c0038t0001g0028 a0039c0050t0001g0183 a0047c0070t0011g0169 a0048c0068t0002g0079 a0049c0071t0001g0278	49	310	0.1581	0	c.251 others(4): Show c.2514T>C	p.Gly others(6): Show p.Gly838Gly	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	24/42	2669/5223	2514/4167	838/1388		chr9	TogoVar
COL15A1_chr9_98938907_99075787	99054576	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18944.hp2 NA19074.hp1 NA18944.hp2 NA19074.hp1	a0029 a0029	a0029c0072 a0029c0073 a0029c0072 a0029c0073	a0029c0072t0001 a0029c0073t0001 a0029c0072t0001 a0029c0073t0001	a0029c0072t0001g0034 a0029c0073t0001g0162 a0029c0072t0001g0034 a0029c0073t0001g0162	2	310	0.0065	0	c.295 others(4): Show c.2951G>A	p.Gly others(6): Show p.Gly984Asp	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	32/42	3106/5223	2951/4167	984/1388		chr9	TogoVar
COL16A1_chr1_31647263_31709017	31672506	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG01261.hp1 NA18747.hp2 others(4): Show HG00597.hp1 HG01261.hp1 NA18747.hp2 NA18962.hp1 NA18969.hp2 NA18997.hp2 NA19077.hp1	a0002 a0008 a0011 others(1): Show a0002 a0008 a0011 a0029	a0002c0002 a0008c0035 a0008c0043 others(3): Show a0002c0002 a0008c0035 a0008c0043 a0008c0049 a0011c0021 a0029c0042	a0002c0002t0002 a0008c0035t0001 a0008c0043t0001 others(3): Show a0002c0002t0002 a0008c0035t0001 a0008c0043t0001 a0008c0049t0005 a0011c0021t0005 a0029c0042t0009	a0002c0002t0002g0163 a0008c0035t0001g0234 a0008c0043t0001g0213 others(4): Show a0002c0002t0002g0163 a0008c0035t0001g0234 a0008c0043t0001g0213 a0008c0049t0005g0296 a0011c0021t0005g0294 a0011c0021t0005g0295 a0029c0042t0009g0204	7	342	0.0205	0	c.301 others(6): Show c.3019-4C>T		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	46/70					chr1	TogoVar
COL16A1_chr1_31647263_31709017	31683335	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02486.hp2 HG02922.hp2 others(2): Show HG02109.hp1 HG02486.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0003 a0004c0011t0001 a0004c0011t0003	a0004c0011t0001g0088 a0004c0011t0001g0107 a0004c0011t0001g0119 others(2): Show a0004c0011t0001g0088 a0004c0011t0001g0107 a0004c0011t0001g0119 a0004c0011t0003g0037 a0004c0011t0003g0038	5	342	0.0146	0	c.241 others(4): Show c.2414A>T	p.Gln others(6): Show p.Gln805Leu	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	35/71	2629/5418	2414/4815	805/1604		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31686139	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01934.hp2 HG02559.hp1 HG02895.hp2 others(7): Show HG01934.hp2 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 NA18906.hp2	a0001 a0009 a0021 others(1): Show a0001 a0009 a0021 a0022	a0001c0005 a0009c0026 a0021c0047 others(1): Show a0001c0005 a0009c0026 a0021c0047 a0022c0046	a0001c0005t0001 a0009c0026t0001 a0021c0047t0001 others(1): Show a0001c0005t0001 a0009c0026t0001 a0021c0047t0001 a0022c0046t0002	a0001c0005t0001g0008 a0001c0005t0001g0131 a0001c0005t0001g0132 others(6): Show a0001c0005t0001g0008 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0136 a0009c0026t0001g0288 a0021c0047t0001g0094 a0022c0046t0002g0143	10	342	0.0292	0	c.184 others(6): Show c.1840-4G>T		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	27/70					chr1	TogoVar
COL16A1_chr1_31647263_31709017	31688977	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0023 a0023	a0023c0058 a0023c0058	a0023c0058t0001 a0023c0058t0001	a0023c0058t0001g0101 a0023c0058t0001g0101	1	342	0.0029	0	c.165 others(6): Show c.1657-6C>A		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	24/70					chr1	TogoVar
COL16A1_chr1_31647263_31709017	31690398	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0210 a0001c0003t0002g0210	1	342	0.0029	0	c.148 others(6): Show c.1483-5A>G		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	21/70					chr1	TogoVar
COL16A1_chr1_31647263_31709017	31691418	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0024 a0024	a0024c0057 a0024c0057	a0024c0057t0002 a0024c0057t0002	a0024c0057t0002g0110 a0024c0057t0002g0110	1	342	0.0029	0	c.139 others(4): Show c.1397C>T	p.Pro others(6): Show p.Pro466Leu	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	19/71	1612/5418	1397/4815	466/1604		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31691647	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02630.hp1 HG02818.hp1 others(4): Show HG02280.hp1 HG02630.hp1 HG02818.hp1 HG02965.hp1 HG03453.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0060 others(1): Show a0001c0005 a0001c0008 a0001c0060 a0002c0002	a0001c0005t0001 a0001c0008t0001 a0001c0060t0001 others(1): Show a0001c0005t0001 a0001c0008t0001 a0001c0060t0001 a0002c0002t0001	a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0118 others(4): Show a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0118 a0001c0005t0001g0125 a0001c0008t0001g0273 a0001c0060t0001g0117 a0002c0002t0001g0145	7	342	0.0205	0	c.125 others(6): Show c.1258-5C>G		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	17/70					chr1	TogoVar
COL16A1_chr1_31647263_31709017	31692475	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0001 a0020c0034t0001	a0020c0034t0001g0183 a0020c0034t0001g0183	1	342	0.0029	0	c.119 others(4): Show c.1193A>G	p.Lys others(6): Show p.Lys398Arg	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	16/71	1408/5418	1193/4815	398/1604		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31697091	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp2 NA19012.hp2 NA18945.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0190 a0002c0002t0002g0191	2	342	0.0059	0	c.739 others(5): Show c.739-3C>T		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	7/70					chr1	TogoVar
COL16A1_chr1_31647263_31709017	31698605	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(209): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 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 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028	a0001c0005 a0001c0006 a0001c0010 others(42): Show a0001c0005 a0001c0006 a0001c0010 a0001c0016 a0001c0017 a0001c0020 a0001c0051 a0001c0052 a0001c0053 a0001c0059 a0001c0060 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0025 a0002c0032 a0002c0061 a0003c0007 a0004c0011 a0005c0022 a0005c0048 a0006c0013 a0007c0023 a0008c0049 a0009c0026 a0009c0027 a0010c0018 a0011c0021 a0012c0055 a0014c0024 a0015c0031 a0016c0030 a0017c0029 a0018c0028 a0019c0033 a0020c0034 a0021c0047 a0022c0046 a0023c0058 a0024c0057 a0025c0056 a0027c0050 a0028c0054	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(57): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0006t0006 a0001c0010t0001 a0001c0010t0002 a0001c0016t0002 a0001c0016t0003 a0001c0017t0003 a0001c0017t0004 a0001c0020t0004 a0001c0051t0002 a0001c0052t0001 a0001c0053t0001 a0001c0059t0004 a0001c0060t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0004t0001 a0002c0004t0002 a0002c0004t0010 a0002c0009t0001 a0002c0009t0002 a0002c0012t0001 a0002c0012t0002 a0002c0014t0002 a0002c0025t0001 a0002c0032t0001 a0002c0061t0002 a0003c0007t0001 a0004c0011t0001 a0004c0011t0003 a0005c0022t0001 a0005c0022t0002 a0005c0048t0008 a0006c0013t0002 a0007c0023t0001 a0008c0049t0005 a0009c0026t0001 a0009c0027t0001 a0010c0018t0001 a0011c0021t0005 a0012c0055t0002 a0014c0024t0001 a0015c0031t0001 a0016c0030t0002 a0017c0029t0001 a0018c0028t0001 a0019c0033t0007 a0020c0034t0001 a0021c0047t0001 a0022c0046t0002 a0023c0058t0001 a0024c0057t0002 a0025c0056t0002 a0027c0050t0001 a0028c0054t0002	a0001c0005t0001g0008 a0001c0005t0001g0089 a0001c0005t0001g0090 others(190): Show a0001c0005t0001g0008 a0001c0005t0001g0089 a0001c0005t0001g0090 a0001c0005t0001g0100 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0118 a0001c0005t0001g0122 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0128 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0002g0106 a0001c0005t0002g0108 a0001c0005t0002g0196 a0001c0005t0002g0279 a0001c0006t0001g0007 a0001c0006t0001g0097 a0001c0006t0001g0099 a0001c0006t0001g0120 a0001c0006t0001g0123 a0001c0006t0001g0280 a0001c0006t0002g0086 a0001c0006t0002g0096 a0001c0006t0002g0098 a0001c0006t0002g0121 a0001c0006t0004g0034 a0001c0006t0006g0104 a0001c0006t0006g0133 a0001c0010t0001g0111 a0001c0010t0001g0112 a0001c0010t0001g0113 a0001c0010t0001g0126 a0001c0010t0001g0127 a0001c0010t0002g0114 a0001c0016t0002g0276 a0001c0016t0003g0030 a0001c0016t0003g0039 a0001c0017t0003g0031 a0001c0017t0003g0032 a0001c0017t0004g0035 a0001c0020t0004g0029 a0001c0020t0004g0036 a0001c0051t0002g0095 a0001c0052t0001g0105 a0001c0053t0001g0109 a0001c0059t0004g0033 a0001c0060t0001g0117 a0002c0002t0001g0014 a0002c0002t0001g0059 a0002c0002t0001g0145 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0165 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0147 a0002c0002t0002g0153 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0007g0298 a0002c0004t0001g0010 a0002c0004t0001g0013 a0002c0004t0001g0018 a0002c0004t0001g0047 a0002c0004t0001g0058 a0002c0004t0001g0066 a0002c0004t0001g0078 a0002c0004t0001g0080 a0002c0004t0001g0083 a0002c0004t0001g0144 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0001g0155 a0002c0004t0001g0168 a0002c0004t0001g0175 a0002c0004t0001g0178 a0002c0004t0001g0293 a0002c0004t0002g0015 a0002c0004t0002g0044 a0002c0004t0002g0173 a0002c0004t0002g0177 a0002c0004t0010g0043 a0002c0009t0001g0016 a0002c0009t0001g0064 a0002c0009t0001g0079 a0002c0009t0001g0184 a0002c0009t0001g0186 a0002c0009t0001g0187 a0002c0009t0002g0042 a0002c0009t0002g0146 a0002c0012t0001g0017 a0002c0012t0001g0065 a0002c0012t0002g0082 a0002c0014t0002g0050 a0002c0014t0002g0051 a0002c0014t0002g0052 a0002c0025t0001g0041 a0002c0032t0001g0054 a0002c0061t0002g0287 a0003c0007t0001g0002 a0003c0007t0001g0277 a0003c0007t0001g0278 a0003c0007t0001g0281 a0003c0007t0001g0282 a0003c0007t0001g0283 a0003c0007t0001g0284 a0003c0007t0001g0285 a0004c0011t0001g0088 a0004c0011t0001g0107 a0004c0011t0001g0119 a0004c0011t0003g0037 a0004c0011t0003g0038 a0005c0022t0001g0085 a0005c0022t0002g0084 a0005c0048t0008g0040 a0006c0013t0002g0060 a0006c0013t0002g0061 a0006c0013t0002g0062 a0007c0023t0001g0092 a0007c0023t0001g0093 a0008c0049t0005g0296 a0009c0026t0001g0288 a0009c0027t0001g0067 a0010c0018t0001g0081 a0010c0018t0001g0194 a0011c0021t0005g0294 a0011c0021t0005g0295 a0012c0055t0002g0102 a0014c0024t0001g0046 a0015c0031t0001g0077 a0016c0030t0002g0192 a0017c0029t0001g0063 a0018c0028t0001g0148 a0019c0033t0007g0299 a0020c0034t0001g0183 a0021c0047t0001g0094 a0022c0046t0002g0143 a0023c0058t0001g0101 a0024c0057t0002g0110 a0025c0056t0002g0091 a0027c0050t0001g0129 a0028c0054t0002g0087	212	342	0.6199	0	c.268 others(3): Show c.268A>C	p.Arg others(5): Show p.Arg90Arg	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	5/71	483/5418	268/4815	90/1604		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31703838	G G	A A	splice_region_variant splice_region_variant	LOW	HG00544.hp1 HG00597.hp1 NA18969.hp2 others(1): Show HG00544.hp1 HG00597.hp1 NA18969.hp2 NA19077.hp1	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0008c0049 a0011c0021 a0001c0001 a0008c0049 a0011c0021	a0001c0001t0005 a0008c0049t0005 a0011c0021t0005 a0001c0001t0005 a0008c0049t0005 a0011c0021t0005	a0001c0001t0005g0297 a0008c0049t0005g0296 a0011c0021t0005g0294 others(1): Show a0001c0001t0005g0297 a0008c0049t0005g0296 a0011c0021t0005g0294 a0011c0021t0005g0295	4	342	0.0117	0	c.-36 others(3): Show c.-36C>T		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	1/71					chr1	TogoVar
COL17A1_chr10_104026286_104090880	104040408	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02056.hp2 NA18959.hp1 HG02056.hp2 NA18959.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0210 a0014c0022t0001g0214 a0014c0022t0001g0210 a0014c0022t0001g0214	2	336	0.0060	0	c.270 others(4): Show c.2704A>T	p.Thr others(6): Show p.Thr902Ser	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	40/56	2873/5612	2704/4494	902/1497		chr10	TogoVar
COL17A1_chr10_104026286_104090880	104050843	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	336	0.0030	0	c.209 others(6): Show c.2092+5G>A		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	26/55					chr10	TogoVar
COL17A1_chr10_104026286_104090880	104055776	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0024 a0024	a0024c0039 a0024c0039	a0024c0039t0003 a0024c0039t0003	a0024c0039t0003g0255 a0024c0039t0003g0255	1	336	0.0030	0	c.168 others(6): Show c.1687+6A>G		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	18/55					chr10	TogoVar
COL17A1_chr10_104026286_104090880	104070427	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG02109.hp2 HG02896.hp1 others(2): Show HG01884.hp1 HG02109.hp2 HG02896.hp1 HG03041.hp1 HG03516.hp1	a0010 a0013 a0010 a0013	a0010c0021 a0010c0028 a0010c0029 others(1): Show a0010c0021 a0010c0028 a0010c0029 a0013c0027	a0010c0021t0001 a0010c0028t0001 a0010c0029t0004 others(1): Show a0010c0021t0001 a0010c0028t0001 a0010c0029t0004 a0013c0027t0003	a0010c0021t0001g0251 a0010c0021t0001g0252 a0010c0028t0001g0254 others(2): Show a0010c0021t0001g0251 a0010c0021t0001g0252 a0010c0028t0001g0254 a0010c0029t0004g0253 a0013c0027t0003g0250	5	336	0.0149	0	c.606 others(3): Show c.606G>C	p.Ser others(6): Show p.Ser202Ser	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	9/56	775/5612	606/4494	202/1497		chr10	TogoVar
COL17A1_chr10_104026286_104090880	104077416	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0041 a0001c0006t0003g0041	1	336	0.0030	0	c.202 others(5): Show c.202+6T>G		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	4/55					chr10	TogoVar
COL18A1_chr21_45400165_45518720	45468792	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	292	0.0034	0	c.651 others(5): Show c.651+6C>G		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	3/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45477494	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0001 a0027c0070t0001	a0027c0070t0001g0012 a0027c0070t0001g0012	1	292	0.0034	0	c.100 others(6): Show c.1005+7C>G		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	7/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45478329	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00597.hp1 HG00642.hp1 others(17): Show HG00099.hp1 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG01167.hp1 HG01192.hp2 HG01891.hp1 HG01978.hp2 HG02109.hp1 HG02132.hp1 HG02723.hp1 HG02970.hp1 HG03471.hp1 HG03540.hp1 HG03927.hp2 NA18747.hp2 NA18964.hp1 NA18998.hp2 NA19060.hp2 NA20129.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0029 a0033 a0034 a0035	a0001c0013 a0001c0019 a0001c0073 others(11): Show a0001c0013 a0001c0019 a0001c0073 a0001c0074 a0001c0079 a0001c0080 a0002c0103 a0006c0072 a0007c0034 a0007c0076 a0029c0071 a0033c0077 a0034c0075 a0035c0078	a0001c0013t0002 a0001c0013t0014 a0001c0019t0003 others(12): Show a0001c0013t0002 a0001c0013t0014 a0001c0019t0003 a0001c0073t0003 a0001c0074t0004 a0001c0079t0001 a0001c0080t0004 a0002c0103t0001 a0006c0072t0002 a0007c0034t0001 a0007c0076t0002 a0029c0071t0002 a0033c0077t0003 a0034c0075t0001 a0035c0078t0001	a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 others(17): Show a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 a0001c0013t0014g0210 a0001c0019t0003g0065 a0001c0019t0003g0139 a0001c0019t0003g0170 a0001c0073t0003g0034 a0001c0074t0004g0200 a0001c0079t0001g0042 a0001c0080t0004g0057 a0002c0103t0001g0136 a0006c0072t0002g0082 a0007c0034t0001g0141 a0007c0034t0001g0282 a0007c0076t0002g0281 a0029c0071t0002g0134 a0033c0077t0003g0098 a0034c0075t0001g0116 a0035c0078t0001g0115	20	292	0.0685	0	c.122 others(4): Show c.1224C>G	p.Gly others(6): Show p.Gly408Gly	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	9/42	1290/5408	1224/4020	408/1339		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45480163	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show HG02559.hp1 HG02630.hp1 HG02895.hp1 HG03098.hp1	a0004 a0013 a0014 a0004 a0013 a0014	a0004c0100 a0013c0102 a0014c0039 a0004c0100 a0013c0102 a0014c0039	a0004c0100t0001 a0013c0102t0004 a0014c0039t0009 a0004c0100t0001 a0013c0102t0004 a0014c0039t0009	a0004c0100t0001g0039 a0013c0102t0004g0196 a0014c0039t0009g0197 others(1): Show a0004c0100t0001g0039 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198	4	292	0.0137	0	c.139 others(6): Show c.1398+7C>G		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	11/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45482789	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	292	0.0034	0	c.167 others(6): Show c.1675-6G>A		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	14/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45493559	CCCAGAAA others(49): Show CCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGT GGGGGCT	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0086 a0021c0086	a0021c0086t0002 a0021c0086t0002	a0021c0086t0002g0176 a0021c0086t0002g0176	1	292	0.0034	-56	c.233 others(68): Show c.2339_2352+42delAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTC CTTCCGGCAGGCGTGGGGGCTCC	p.Gln others(5): Show p.Gln780fs	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	26/42	2405/5408	2339/4020	780/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45497073	CGGGCCTC others(32): Show CGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACA	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02257.hp1 HG02257.hp1	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0001 a0027c0070t0001	a0027c0070t0001g0012 a0027c0070t0001g0012	1	292	0.0034	-39	c.260 others(51): Show c.2603_2620+21delGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGC TCACAG	p.Pro others(13): Show p.Pro869_Gly874del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	31/42	2669/5408	2603/4020	868/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45504408	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG03654.hp1 HG03942.hp1 HG00639.hp2 HG03654.hp1 HG03942.hp1	a0012 a0023 a0025 a0012 a0023 a0025	a0012c0065 a0023c0085 a0025c0050 a0012c0065 a0023c0085 a0025c0050	a0012c0065t0002 a0023c0085t0002 a0025c0050t0002 a0012c0065t0002 a0023c0085t0002 a0025c0050t0002	a0012c0065t0002g0096 a0023c0085t0002g0106 a0025c0050t0002g0108 a0012c0065t0002g0096 a0023c0085t0002g0106 a0025c0050t0002g0108	3	292	0.0103	0	c.272 others(6): Show c.2728-8G>A		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	33/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45509600	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0034 a0034	a0034c0075 a0034c0075	a0034c0075t0001 a0034c0075t0001	a0034c0075t0001g0116 a0034c0075t0001g0116	1	292	0.0034	0	c.349 others(4): Show c.3494T>C	p.Val others(7): Show p.Val1165Ala	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/42	3560/5408	3494/4020	1165/1339		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45509601	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp1 HG02132.hp1	a0034 a0034	a0034c0075 a0034c0075	a0034c0075t0001 a0034c0075t0001	a0034c0075t0001g0116 a0034c0075t0001g0116	1	292	0.0034	0	c.349 others(4): Show c.3495G>T	p.Val others(7): Show p.Val1165Val	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/42	3561/5408	3495/4020	1165/1339		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45509604	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp1 HG02132.hp1	a0034 a0034	a0034c0075 a0034c0075	a0034c0075t0001 a0034c0075t0001	a0034c0075t0001g0116 a0034c0075t0001g0116	1	292	0.0034	0	c.349 others(6): Show c.3495+3G>A		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45509608	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp1 HG02132.hp1	a0034 a0034	a0034c0075 a0034c0075	a0034c0075t0001 a0034c0075t0001	a0034c0075t0001g0116 a0034c0075t0001g0116	1	292	0.0034	0	c.349 others(6): Show c.3495+7G>C		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45509609	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp1 HG02132.hp1	a0034 a0034	a0034c0075 a0034c0075	a0034c0075t0001 a0034c0075t0001	a0034c0075t0001g0116 a0034c0075t0001g0116	1	292	0.0034	0	c.349 others(6): Show c.3495+8C>G		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45510059	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02717.hp1 HG01496.hp1 HG02717.hp1	a0020 a0031 a0020 a0031	a0020c0094 a0031c0092 a0020c0094 a0031c0092	a0020c0094t0011 a0031c0092t0011 a0020c0094t0011 a0031c0092t0011	a0020c0094t0011g0075 a0031c0092t0011g0190 a0020c0094t0011g0075 a0031c0092t0011g0190	2	292	0.0069	0	c.349 others(6): Show c.3496-5C>T		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/41					chr21	TogoVar
COL19A1_chr6_69861556_70217468	70156119	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0106 a0008c0019t0001g0106	1	182	0.0055	0	c.208 others(6): Show c.2080-8C>T		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	31/50					chr6	TogoVar
COL19A1_chr6_69861556_70217468	70168027	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0006 a0002c0020t0006	a0002c0020t0006g0006 a0002c0020t0006g0006	1	182	0.0055	0	c.244 others(4): Show c.2448T>C	p.Gly others(6): Show p.Gly816Gly	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	38/51	2565/8740	2448/3429	816/1142		chr6	TogoVar
COL1A1_chr17_50179101_50206631	50188799	C C	CAGAG CAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02280.hp1 HG02486.hp1 others(4): Show HG01884.hp1 HG02280.hp1 HG02486.hp1 HG03041.hp2 HG03098.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0064 a0001c0001t0001g0011 a0001c0001t0001g0064	7	448	0.0156	4	c.304 others(17): Show c.3046-8_3046-5dupCTCT		COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	41/50					chr17	TogoVar
COL1A1_chr17_50179101_50206631	50192031	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	448	0.0045	0	c.198 others(6): Show c.1984-7C>G		COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	29/50					chr17	TogoVar
COL1A1_chr17_50179101_50206631	50192994	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp2 HG02922.hp2 HG02109.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0005 a0001c0010t0001 a0001c0010t0005	a0001c0010t0001g0082 a0001c0010t0005g0072 a0001c0010t0001g0082 a0001c0010t0005g0072	2	448	0.0045	0	c.182 others(4): Show c.1821C>T	p.Val others(6): Show p.Val607Val	COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	26/51	1939/5914	1821/4395	607/1464		chr17	TogoVar
COL1A1_chr17_50179101_50206631	50194187	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp2 HG03130.hp1 HG01167.hp2 HG01169.hp2 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0026 a0001c0006t0015 a0001c0006t0026	a0001c0006t0015g0076 a0001c0006t0015g0077 a0001c0006t0026g0075 a0001c0006t0015g0076 a0001c0006t0015g0077 a0001c0006t0026g0075	3	448	0.0067	0	c.161 others(6): Show c.1615-4C>A		COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	23/50					chr17	TogoVar
COL1A1_chr17_50179101_50206631	50195108	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01891.hp2 HG02109.hp2 others(7): Show HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG03041.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0002t0035 a0001c0010t0005 others(1): Show a0001c0001t0001 a0001c0002t0035 a0001c0010t0005 a0001c0011t0016	a0001c0001t0001g0011 a0001c0001t0001g0211 a0001c0002t0035g0071 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0211 a0001c0002t0035g0071 a0001c0010t0005g0072 a0001c0011t0016g0263	10	448	0.0223	0	c.130 others(6): Show c.1300-8C>T		COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	19/50					chr17	TogoVar
COL1A1_chr17_50179101_50206631	50195108	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02055.hp2 HG02145.hp2 others(11): Show HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02630.hp2 HG02698.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp1 HG03516.hp1 HG03704.hp2 NA18906.hp1 NA19043.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0033 others(1): Show a0001c0001 a0001c0004 a0002c0033 a0005c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001 a0002c0033t0005 a0005c0024t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0084 others(11): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0006g0066 a0001c0001t0010g0172 a0001c0004t0001g0086 a0001c0004t0001g0088 a0001c0004t0001g0089 a0002c0033t0005g0087 a0005c0024t0001g0253	14	448	0.0313	0	c.130 others(6): Show c.1300-8C>G		COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	19/50					chr17	TogoVar
COL1A1_chr17_50179101_50206631	50199746	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02109.hp2 HG03471.hp2 others(1): Show HG01891.hp2 HG02109.hp2 HG03471.hp2 NA18941.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0001c0031 others(1): Show a0001c0002 a0001c0010 a0001c0031 a0002c0008	a0001c0002t0035 a0001c0010t0005 a0001c0031t0049 others(1): Show a0001c0002t0035 a0001c0010t0005 a0001c0031t0049 a0002c0008t0005	a0001c0002t0035g0071 a0001c0010t0005g0072 a0001c0031t0049g0073 others(1): Show a0001c0002t0035g0071 a0001c0010t0005g0072 a0001c0031t0049g0073 a0002c0008t0005g0070	4	448	0.0089	0	c.298 others(5): Show c.298+7C>A		COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	2/50					chr17	TogoVar
COL1A2_chr7_94389895_94436227	94397731	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(31): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG02572.hp2 NA18940.hp1 NA18953.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18978.hp2 NA18979.hp2 NA19001.hp1 NA19043.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0006 a0002c0004 a0003c0033 others(1): Show a0001c0006 a0002c0004 a0003c0033 a0013c0023	a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 others(4): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0002c0004t0003 a0003c0033t0001 a0013c0023t0004	a0001c0006t0001g0015 a0001c0006t0001g0024 a0001c0006t0002g0036 others(14): Show a0001c0006t0001g0015 a0001c0006t0001g0024 a0001c0006t0002g0036 a0001c0006t0002g0080 a0001c0006t0002g0081 a0001c0006t0002g0134 a0001c0006t0003g0016 a0001c0006t0004g0004 a0001c0006t0004g0016 a0001c0006t0004g0033 a0001c0006t0004g0035 a0001c0006t0004g0077 a0001c0006t0004g0078 a0001c0006t0004g0079 a0002c0004t0003g0156 a0003c0033t0001g0068 a0013c0023t0004g0004	34	438	0.0776	1	c.71- others(5): Show c.71-7dupT		COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	1/51				INFO_REALIGN_3_PRIME	chr7	TogoVar
COL1A2_chr7_94389895_94436227	94397742	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0229 a0001c0003t0001g0229	1	438	0.0023	0	c.71- others(4): Show c.71-6C>T		COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	1/51					chr7	TogoVar
COL1A2_chr7_94389895_94436227	94409720	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(378): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 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.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 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 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(31): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0029 a0001c0035 a0001c0037 a0002c0004 a0002c0019 a0003c0013 a0003c0033 a0004c0012 a0005c0030 a0006c0034 a0007c0031 a0008c0027 a0009c0028 a0010c0016 a0011c0032 a0013c0023 a0014c0036 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0009t0003 a0001c0011t0001 a0001c0011t0003 a0001c0014t0001 a0001c0014t0002 a0001c0015t0005 a0001c0017t0006 a0001c0020t0003 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0001c0029t0007 a0001c0035t0001 a0001c0037t0002 a0002c0004t0001 a0002c0004t0003 a0002c0019t0001 a0003c0013t0001 a0003c0033t0001 a0004c0012t0001 a0004c0012t0004 a0005c0030t0001 a0006c0034t0001 a0007c0031t0001 a0008c0027t0001 a0009c0028t0002 a0010c0016t0001 a0011c0032t0001 a0013c0023t0004 a0014c0036t0001 a0015c0018t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 others(220): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0239 a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0127 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0234 a0001c0001t0003g0030 a0001c0001t0003g0047 a0001c0001t0003g0106 a0001c0001t0003g0122 a0001c0001t0003g0160 a0001c0001t0003g0236 a0001c0001t0004g0126 a0001c0001t0004g0172 a0001c0001t0005g0009 a0001c0001t0005g0082 a0001c0002t0001g0001 a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0072 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0128 a0001c0002t0001g0150 a0001c0002t0001g0173 a0001c0002t0001g0210 a0001c0002t0001g0246 a0001c0002t0002g0041 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0103 a0001c0002t0002g0151 a0001c0002t0003g0011 a0001c0002t0003g0017 a0001c0002t0003g0032 a0001c0002t0003g0104 a0001c0002t0004g0124 a0001c0002t0006g0084 a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0003t0001g0031 a0001c0003t0001g0055 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0071 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0191 a0001c0003t0001g0195 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0232 a0001c0003t0002g0008 a0001c0003t0002g0058 a0001c0003t0002g0184 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0221 a0001c0003t0003g0003 a0001c0003t0003g0013 a0001c0003t0003g0056 a0001c0003t0003g0199 a0001c0003t0004g0224 a0001c0005t0001g0007 a0001c0005t0001g0010 a0001c0005t0001g0042 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0069 a0001c0005t0001g0074 a0001c0005t0001g0107 a0001c0005t0001g0116 a0001c0005t0001g0119 a0001c0005t0001g0125 a0001c0005t0001g0129 a0001c0005t0001g0135 a0001c0005t0002g0026 a0001c0005t0002g0044 a0001c0005t0002g0048 a0001c0005t0002g0121 a0001c0005t0002g0123 a0001c0005t0002g0166 a0001c0005t0002g0213 a0001c0005t0003g0007 a0001c0005t0003g0034 a0001c0005t0003g0115 a0001c0006t0001g0015 a0001c0006t0001g0024 a0001c0006t0001g0049 a0001c0006t0001g0231 a0001c0006t0002g0036 a0001c0006t0002g0080 a0001c0006t0002g0081 a0001c0006t0002g0134 a0001c0006t0003g0016 a0001c0006t0004g0004 a0001c0006t0004g0016 a0001c0006t0004g0033 a0001c0006t0004g0035 a0001c0006t0004g0077 a0001c0006t0004g0078 a0001c0006t0004g0079 a0001c0007t0001g0021 a0001c0007t0001g0076 a0001c0007t0001g0174 a0001c0007t0001g0182 a0001c0007t0001g0187 a0001c0007t0001g0194 a0001c0007t0001g0196 a0001c0007t0004g0175 a0001c0007t0004g0185 a0001c0007t0004g0192 a0001c0007t0004g0193 a0001c0007t0005g0057 a0001c0008t0001g0005 a0001c0008t0001g0061 a0001c0008t0001g0189 a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0230 a0001c0008t0003g0005 a0001c0009t0001g0073 a0001c0009t0001g0137 a0001c0009t0001g0139 a0001c0009t0001g0162 a0001c0009t0003g0240 a0001c0009t0003g0242 a0001c0009t0003g0243 a0001c0009t0003g0244 a0001c0011t0001g0202 a0001c0011t0001g0212 a0001c0011t0003g0179 a0001c0014t0001g0109 a0001c0014t0002g0209 a0001c0015t0005g0155 a0001c0017t0006g0233 a0001c0020t0003g0241 a0001c0021t0001g0138 a0001c0022t0001g0161 a0001c0024t0001g0133 a0001c0029t0007g0168 a0001c0035t0001g0089 a0001c0037t0002g0044 a0002c0004t0001g0170 a0002c0004t0003g0211 a0002c0019t0001g0245 a0003c0013t0001g0065 a0003c0013t0001g0066 a0003c0033t0001g0068 a0004c0012t0001g0220 a0004c0012t0004g0003 a0005c0030t0001g0096 a0006c0034t0001g0040 a0007c0031t0001g0091 a0008c0027t0001g0053 a0009c0028t0002g0207 a0010c0016t0001g0235 a0011c0032t0001g0095 a0013c0023t0004g0004 a0014c0036t0001g0180 a0015c0018t0001g0029	381	438	0.8699	0	c.937 others(5): Show c.937-3C>T		COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	18/51					chr7	TogoVar
COL1A2_chr7_94389895_94436227	94411033	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01256.hp2 HG01258.hp1 others(4): Show HG00621.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG03017.hp1 HG04199.hp2 NA18956.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0005 a0006c0034 a0001c0002 a0001c0005 a0006c0034	a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0006c0034t0001	a0001c0002t0001g0040 a0001c0002t0001g0102 a0001c0002t0003g0032 others(2): Show a0001c0002t0001g0040 a0001c0002t0001g0102 a0001c0002t0003g0032 a0001c0005t0001g0125 a0006c0034t0001g0040	7	438	0.0160	1	c.125 others(7): Show c.1252-7dupT		COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	22/51				INFO_REALIGN_3_PRIME	chr7	TogoVar
COL1A2_chr7_94389895_94436227	94411033	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00673.hp1 HG00733.hp2 others(62): Show HG00597.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02300.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18959.hp1 NA18965.hp1 NA18966.hp2 NA18974.hp1 NA18985.hp2 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19043.hp1 NA19054.hp1 NA19077.hp1 NA19084.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0001c0017 a0002c0004 a0003c0013 a0009c0028 a0014c0036 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0014t0002 a0001c0017t0006 a0002c0004t0003 a0003c0013t0001 a0009c0028t0002 a0014c0036t0001 a0015c0018t0001	a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(38): Show a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0239 a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0234 a0001c0001t0003g0030 a0001c0001t0003g0160 a0001c0001t0004g0172 a0001c0002t0001g0210 a0001c0003t0001g0071 a0001c0011t0001g0202 a0001c0014t0002g0209 a0001c0017t0006g0233 a0002c0004t0003g0211 a0003c0013t0001g0065 a0003c0013t0001g0066 a0009c0028t0002g0207 a0014c0036t0001g0180 a0015c0018t0001g0029	65	438	0.1484	-1	c.125 others(7): Show c.1252-7delT		COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	22/51				INFO_REALIGN_3_PRIME	chr7	TogoVar
COL1A2_chr7_94389895_94436227	94413079	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	438	0.0023	0	c.150 others(6): Show c.1504-4C>A		COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	25/51					chr7	TogoVar
COL1A2_chr7_94389895_94436227	94413742	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0004 a0013c0023t0004	a0013c0023t0004g0004 a0013c0023t0004g0004	1	438	0.0023	0	c.161 others(4): Show c.1610A>G	p.Gln others(6): Show p.Gln537Arg	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	27/52	1747/5072	1610/4101	537/1366		chr7	TogoVar
COL1A2_chr7_94389895_94436227	94419550	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0096 a0005c0030t0001g0096	1	438	0.0023	0	c.207 others(4): Show c.2078G>A	p.Arg others(6): Show p.Arg693Gln	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	34/52	2215/5072	2078/4101	693/1366		chr7	TogoVar

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