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	chr	external
COL20A1_chr20_63288186_63339806	63307491	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00544.hp2 HG00621.hp1 HG01261.hp1 others(6): Show HG00544.hp2 HG00621.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 NA18945.hp1 NA18966.hp2 NA19009.hp1 NA19011.hp1	a0001 a0028 a0001 a0028	a0001c0005 a0028c0019 a0001c0005 a0028c0019	a0001c0005t0001 a0001c0005t0002 a0001c0005t0012 others(1): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0012 a0028c0019t0005	a0001c0005t0001g0229 a0001c0005t0002g0046 a0001c0005t0002g0061 others(5): Show a0001c0005t0001g0229 a0001c0005t0002g0046 a0001c0005t0002g0061 a0001c0005t0002g0207 a0001c0005t0002g0232 a0001c0005t0012g0007 a0001c0005t0012g0153 a0028c0019t0005g0183	9	290	0.0310	0	c.498 others(3): Show c.498C>A	p.Ala others(6): Show p.Ala166Ala	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	6/36	598/8045	498/3855	166/1284	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63307491	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0005 a0001c0044t0005	a0001c0044t0005g0167 a0001c0044t0005g0167	1	290	0.0035	0	c.498 others(3): Show c.498C>T	p.Ala others(6): Show p.Ala166Ala	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	6/36	598/8045	498/3855	166/1284	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63320195	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0005 a0028c0019t0005	a0028c0019t0005g0183 a0028c0019t0005g0183	1	290	0.0035	0	c.307 others(4): Show c.3073G>A	p.Ala others(7): Show p.Ala1025Thr	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	24/36	3173/8045	3073/3855	1025/1284	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63322054	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp2 HG03942.hp2	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0033 a0016c0024t0033	a0016c0024t0033g0042 a0016c0024t0033g0042	1	290	0.0035	0	c.324 others(6): Show c.3241-4G>A		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	26/35				chr20	TogoVar
COL20A1_chr20_63288186_63339806	63325726	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	290	0.0035	0	c.340 others(6): Show c.3402+5C>T		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	29/35				chr20	TogoVar
COL21A1_chr6_56051590_56252580	56059162	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02809.hp1 HG02559.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0101 a0001c0001t0006g0022 a0001c0001t0001g0101 a0001c0001t0006g0022	2	264	0.0076	0	c.268 others(6): Show c.2686+3G>A		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	29/29				chr6	TogoVar
COL21A1_chr6_56051590_56252580	56069115	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0063 a0001c0022t0003g0063	1	264	0.0038	0	c.202 others(4): Show c.2022A>G	p.Gly others(6): Show p.Gly674Gly	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	22/30	2254/4173	2022/2874	674/957	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56168296	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00735.hp2 HG01192.hp1 others(10): Show HG00099.hp1 HG00735.hp2 HG01192.hp1 HG01257.hp2 HG01496.hp2 HG01943.hp2 HG03942.hp2 NA18939.hp2 NA18946.hp1 NA18956.hp2 NA18971.hp2 NA18981.hp2 NA19005.hp2	a0003 a0003	a0003c0005 a0003c0006 a0003c0005 a0003c0006	a0003c0005t0001 a0003c0005t0007 a0003c0005t0014 others(1): Show a0003c0005t0001 a0003c0005t0007 a0003c0005t0014 a0003c0006t0007	a0003c0005t0001g0157 a0003c0005t0007g0119 a0003c0005t0007g0122 others(10): Show a0003c0005t0001g0157 a0003c0005t0007g0119 a0003c0005t0007g0122 a0003c0005t0007g0200 a0003c0005t0007g0202 a0003c0005t0007g0203 a0003c0005t0007g0251 a0003c0005t0014g0035 a0003c0006t0007g0199 a0003c0006t0007g0201 a0003c0006t0007g0204 a0003c0006t0007g0205 a0003c0006t0007g0206	13	264	0.0492	0	c.102 others(4): Show c.1028C>T	p.Thr others(6): Show p.Thr343Met	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	6/30	1260/4173	1028/2874	343/957	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138598712	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0036 a0002c0023t0001g0036	1	158	0.0063	0	c.436 others(6): Show c.4365+7A>G		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	61/64				chr8	TogoVar
COL22A1_chr8_138583235_138919041	138623732	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0001 a0004c0032t0001	a0004c0032t0001g0115 a0004c0032t0001g0115	1	158	0.0063	0	c.377 others(4): Show c.3771G>A	p.Pro others(7): Show p.Pro1257Pro	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	52/65	4266/6394	3771/4881	1257/1626	chr8	TogoVar
COL22A1_chr8_138583235_138919041	138660428	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00597.hp2 HG00639.hp2 others(47): Show HG00280.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02451.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp2 NA18944.hp2 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0002 a0001c0006 others(19): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0017 a0001c0018 a0001c0027 a0001c0028 a0001c0044 a0002c0003 a0002c0007 a0002c0009 a0002c0022 a0002c0023 a0002c0052 a0003c0013 a0003c0035 a0004c0032 a0005c0021 a0005c0051 a0005c0061 a0009c0047	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0006t0001 a0001c0012t0001 a0001c0017t0005 a0001c0018t0001 a0001c0027t0001 a0001c0028t0003 a0001c0044t0002 a0002c0003t0001 a0002c0007t0001 a0002c0007t0003 a0002c0009t0002 a0002c0022t0001 a0002c0023t0001 a0002c0052t0002 a0003c0013t0001 a0003c0013t0003 a0003c0035t0006 a0004c0032t0001 a0005c0021t0001 a0005c0051t0001 a0005c0061t0001 a0009c0047t0001	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0082 others(47): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0005g0142 a0001c0001t0006g0107 a0001c0001t0006g0114 a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0002g0043 a0001c0002t0003g0009 a0001c0002t0005g0141 a0001c0002t0005g0153 a0001c0006t0001g0054 a0001c0012t0001g0037 a0001c0017t0005g0152 a0001c0018t0001g0055 a0001c0027t0001g0024 a0001c0028t0003g0008 a0001c0044t0002g0065 a0002c0003t0001g0076 a0002c0007t0001g0111 a0002c0007t0001g0137 a0002c0007t0003g0010 a0002c0009t0002g0089 a0002c0022t0001g0040 a0002c0023t0001g0036 a0002c0052t0002g0058 a0003c0013t0001g0125 a0003c0013t0003g0002 a0003c0013t0003g0006 a0003c0035t0006g0073 a0004c0032t0001g0115 a0005c0021t0001g0070 a0005c0021t0001g0079 a0005c0051t0001g0052 a0005c0061t0001g0105 a0009c0047t0001g0098	50	158	0.3165	0	c.328 others(6): Show c.3285+8A>G		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	44/64				chr8	TogoVar
COL22A1_chr8_138583235_138919041	138679683	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG01255.hp1 HG02523.hp2 others(4): Show HG01099.hp1 HG01255.hp1 HG02523.hp2 HG03688.hp2 NA18985.hp1 NA19060.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0002c0004 a0002c0007 others(3): Show a0001c0015 a0002c0004 a0002c0007 a0002c0009 a0002c0023 a0002c0025	a0001c0015t0001 a0002c0004t0001 a0002c0004t0006 others(4): Show a0001c0015t0001 a0002c0004t0001 a0002c0004t0006 a0002c0007t0005 a0002c0009t0015 a0002c0023t0001 a0002c0025t0003	a0001c0015t0001g0068 a0002c0004t0001g0044 a0002c0004t0006g0131 others(4): Show a0001c0015t0001g0068 a0002c0004t0001g0044 a0002c0004t0006g0131 a0002c0007t0005g0145 a0002c0009t0015g0146 a0002c0023t0001g0117 a0002c0025t0003g0013	7	158	0.0443	0	c.301 others(6): Show c.3013-7C>T		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	39/64				chr8	TogoVar
COL22A1_chr8_138583235_138919041	138700112	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00735.hp1 HG02630.hp1 HG02886.hp1 others(4): Show HG00735.hp1 HG02630.hp1 HG02886.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0024 a0001c0027 a0001c0046 others(2): Show a0001c0024 a0001c0027 a0001c0046 a0001c0053 a0001c0054	a0001c0024t0004 a0001c0024t0016 a0001c0027t0001 others(4): Show a0001c0024t0004 a0001c0024t0016 a0001c0027t0001 a0001c0027t0002 a0001c0046t0001 a0001c0053t0001 a0001c0054t0002	a0001c0024t0004g0136 a0001c0024t0016g0158 a0001c0027t0001g0024 others(4): Show a0001c0024t0004g0136 a0001c0024t0016g0158 a0001c0027t0001g0024 a0001c0027t0002g0022 a0001c0046t0001g0087 a0001c0053t0001g0118 a0001c0054t0002g0090	7	158	0.0443	0	c.259 others(4): Show c.2592C>T	p.Pro others(6): Show p.Pro864Pro	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	32/65	3087/6394	2592/4881	864/1626	chr8	TogoVar
COL22A1_chr8_138583235_138919041	138715738	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01361.hp1 HG01884.hp1 others(26): Show HG00741.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp1 HG03579.hp2 HG03710.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0011 a0016	a0001c0001 a0001c0002 a0001c0006 others(19): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0026 a0001c0044 a0002c0003 a0002c0007 a0002c0022 a0002c0023 a0002c0029 a0002c0052 a0003c0020 a0004c0040 a0007c0058 a0011c0043 a0016c0036	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(24): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0006t0002 a0001c0008t0002 a0001c0010t0007 a0001c0012t0002 a0001c0016t0001 a0001c0017t0005 a0001c0017t0007 a0001c0018t0004 a0001c0026t0001 a0001c0044t0002 a0002c0003t0001 a0002c0003t0003 a0002c0007t0001 a0002c0007t0003 a0002c0022t0001 a0002c0022t0002 a0002c0023t0001 a0002c0029t0002 a0002c0052t0002 a0003c0020t0003 a0004c0040t0004 a0007c0058t0002 a0011c0043t0001 a0016c0036t0002	a0001c0001t0001g0083 a0001c0002t0002g0029 a0001c0002t0007g0156 others(26): Show a0001c0001t0001g0083 a0001c0002t0002g0029 a0001c0002t0007g0156 a0001c0006t0002g0064 a0001c0008t0002g0093 a0001c0008t0002g0133 a0001c0010t0007g0155 a0001c0012t0002g0059 a0001c0016t0001g0097 a0001c0016t0001g0132 a0001c0017t0005g0152 a0001c0017t0007g0147 a0001c0018t0004g0086 a0001c0026t0001g0038 a0001c0044t0002g0065 a0002c0003t0001g0020 a0002c0003t0003g0011 a0002c0007t0001g0111 a0002c0007t0003g0010 a0002c0022t0001g0040 a0002c0022t0002g0028 a0002c0023t0001g0036 a0002c0029t0002g0057 a0002c0052t0002g0058 a0003c0020t0003g0014 a0004c0040t0004g0035 a0007c0058t0002g0095 a0011c0043t0001g0056 a0016c0036t0002g0085	29	158	0.1835	0	c.246 others(6): Show c.2464-3T>C		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	29/64				chr8	TogoVar
COL22A1_chr8_138583235_138919041	138760237	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02486.hp2 HG02630.hp2 others(7): Show HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02895.hp1 HG03195.hp2 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0012 a0001c0014 a0001c0017 others(7): Show a0001c0012 a0001c0014 a0001c0017 a0002c0005 a0002c0023 a0003c0020 a0003c0031 a0004c0019 a0004c0040 a0010c0030	a0001c0012t0010 a0001c0014t0004 a0001c0017t0005 others(7): Show a0001c0012t0010 a0001c0014t0004 a0001c0017t0005 a0002c0005t0003 a0002c0023t0001 a0003c0020t0007 a0003c0031t0004 a0004c0019t0001 a0004c0040t0004 a0010c0030t0004	a0001c0012t0010g0012 a0001c0014t0004g0018 a0001c0017t0005g0149 others(7): Show a0001c0012t0010g0012 a0001c0014t0004g0018 a0001c0017t0005g0149 a0002c0005t0003g0005 a0002c0023t0001g0036 a0003c0020t0007g0150 a0003c0031t0004g0031 a0004c0019t0001g0130 a0004c0040t0004g0035 a0010c0030t0004g0021	10	158	0.0633	0	c.190 others(6): Show c.1902+6C>T		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	18/64				chr8	TogoVar
COL22A1_chr8_138583235_138919041	138802874	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0134 a0015c0039t0001g0134	1	158	0.0063	0	c.155 others(4): Show c.1555G>A	p.Val others(6): Show p.Val519Met	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	11/65	2050/6394	1555/4881	519/1626	chr8	TogoVar
COL22A1_chr8_138583235_138919041	138821136	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp1 NA20752.hp2 HG01891.hp1 NA20752.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0003 a0001c0028t0001 a0001c0028t0003	a0001c0028t0001g0034 a0001c0028t0003g0008 a0001c0028t0001g0034 a0001c0028t0003g0008	2	158	0.0127	0	c.124 others(4): Show c.1245C>T	p.Asp others(6): Show p.Asp415Asp	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	7/65	1740/6394	1245/4881	415/1626	chr8	TogoVar
COL23A1_chr5_178232618_178595393	178246247	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0010 a0003c0023t0010	a0003c0023t0010g0236 a0003c0023t0010g0236	1	236	0.0042	0	c.141 others(6): Show c.1413+7G>T		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	24/28				chr5	TogoVar
COL23A1_chr5_178232618_178595393	178254945	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00639.hp1 HG01071.hp1 others(42): Show HG00558.hp1 HG00639.hp1 HG01071.hp1 HG01167.hp1 HG01261.hp2 HG01891.hp1 HG02129.hp2 HG02257.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp2 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18973.hp2 NA18975.hp2 NA18999.hp1 NA19000.hp2 NA19010.hp2 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0012 a0013	a0001c0001 a0002c0002 a0002c0003 others(9): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0003c0005 a0004c0006 a0005c0008 a0005c0015 a0007c0019 a0009c0016 a0012c0012 a0013c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0013 a0002c0009t0008 a0003c0005t0002 a0004c0006t0003 a0005c0008t0002 a0005c0015t0002 a0007c0019t0005 a0009c0016t0002 a0012c0012t0002 a0013c0010t0002	a0001c0001t0002g0028 a0001c0001t0002g0165 a0001c0001t0003g0166 others(42): Show a0001c0001t0002g0028 a0001c0001t0002g0165 a0001c0001t0003g0166 a0001c0001t0004g0174 a0001c0001t0005g0095 a0001c0001t0005g0107 a0002c0002t0010g0228 a0002c0003t0001g0152 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0097 a0002c0003t0002g0112 a0002c0003t0002g0121 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0003g0088 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0008g0231 a0002c0003t0013g0114 a0002c0009t0008g0235 a0003c0005t0002g0005 a0003c0005t0002g0061 a0003c0005t0002g0163 a0003c0005t0002g0168 a0003c0005t0002g0171 a0004c0006t0003g0130 a0005c0008t0002g0003 a0005c0008t0002g0024 a0005c0008t0002g0050 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0015t0002g0017 a0007c0019t0005g0160 a0009c0016t0002g0108 a0012c0012t0002g0162 a0013c0010t0002g0117	45	236	0.1907	1	c.960 others(6): Show c.960+3dupA		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	16/28				chr5	TogoVar
COL23A1_chr5_178232618_178595393	178263111	TGCACTAG others(1361): Show TGCACTAGAGATGGGGATGGGGATGGGGCTGGCTCTGGAATCAGGATTTG GGGTTTTGGTCAAGTCCTGCGTGGCCCAACTCCATGCCCTCTCTTACCGC TGGGCCTTGTGCTCCCCTGGGGCCATCTTTCCCAGTGTCGCCAGGAGGGC CCCGGGCCCCAGGAGGTCCAGGGGGCCCCGGAGGCCCAGCAGCTCCATCT TGTCCTTGGTCTCCCTGAAAGAGATGGGGCTTGGCATGACTCTGAGGGGG AGGGGGTCCAGCCTCCAGAGAGAGGCTCCCTCAGATGGGCAGCCCCACGC CATCCCCTTCCCCAGCCCTTGGGCAGGCTCAAAGGGGAGGGCTTTGTTAT TGGGCCTCTTGCCACTTATTGGGAGCTGCATGAAGGAACAGGTCCCCATA CCTTGGTGTAAGAGGCCCTACAGGACCCTTTACATGCCAAGGAATGTGCC AGCTCTCCAGCGCCTGAAGCCCAGATCCAGTGTTTAGGAGAGAGATGGCA CACGCTGCATGTGGGAGACAGCACGTGTGTCCAGCTGCCCCCTCTTCTTT CTAGAACGGGGTCTGAGTGTCTCCTGAAGGACCTTCCTGGTTGGTCAACT CCCACTTCATTTAAGTATGGAGGGGCACTCTTGGGCATTTATCCTTGTTC ACAGCTGCTTTATTAGTAACAGCCCCAAACTGGAAACTAATCCGAAAGTC CTTTGGTAGGTGGAAGGTTAAGGAGCTGGGGTACATCCACATCATGGAAC ACAACTCAGCAATCAACCCAAAGGAACAGGGCACGACACATGCAACACCT CAGATGCATCTCAGGAGAATTATGCTAAGTGGAAAAAGTCCATCTCCAAA GCTTAATACTGTGTGGCTGTATCTACGTAACACTCTTGAAATGGCAACAT TGAAGAGATGGAGAGCCCATAATGGTTGCCAGGCGTTAGGGATGGGGGGA TGAAGGTGATTGTAACTACAAAAGAACAGCATGAGGGACCTTTGTGGGCT TACACAAATCGACGGGTGTGTTAAAATTGCACAGAACACACAAACGAGTG TGTGTACAGGTGGGGGCATCTGAATAAGGTTGGTGGATTGTATCATTGTC AATTTCCTGTTGTGAGACTGTACTACAGAGATGCAAGATGTCACCATTGG GGGAGACTGGATGAAGGGTACACAGGTGTTATTCACTACAATTACATGTA AATCTACAATTATCTCAAAATAAAAGTAAAAAAAAAAAAAAGGATGATGA AGGGCCACATGGTTTCTCTCATGCAGCAGTAAATCCCCAACTTTAGAACC TGATGTTAGTACTGGGGTCAGACCTCAGGCAGCCGGAGCCCCACCTCATG GCCCAACCCGAGAGGAAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00639.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0002 a0013c0010t0002	a0013c0010t0002g0117 a0013c0010t0002g0117	1	236	0.0042	-1368	c.523 others(15): Show c.523-1155_639+96del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	9/29				chr5	TogoVar
COL23A1_chr5_178232618_178595393	178288324	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0124 a0002c0014t0003g0124	1	236	0.0042	0	c.441 others(3): Show c.441G>A	p.Pro others(6): Show p.Pro147Pro	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	5/29	637/2899	441/1623	147/540	chr5	TogoVar
COL23A1_chr5_178232618_178595393	178290367	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0002 a0013c0010t0002	a0013c0010t0002g0117 a0013c0010t0002g0117	1	236	0.0042	0	c.409 others(3): Show c.409C>A	p.Pro others(6): Show p.Pro137Thr	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	4/29	605/2899	409/1623	137/540	chr5	TogoVar
COL24A1_chr1_85724233_86161772	85775716	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01884.hp1 HG02257.hp2 others(6): Show HG01109.hp2 HG01884.hp1 HG02257.hp2 HG02615.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 NA18906.hp1 NA19240.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0009 a0029 a0045	a0001c0001 a0004c0002 a0006c0062 others(3): Show a0001c0001 a0004c0002 a0006c0062 a0009c0008 a0029c0040 a0045c0068	a0001c0001t0002 a0004c0002t0004 a0006c0062t0001 others(3): Show a0001c0001t0002 a0004c0002t0004 a0006c0062t0001 a0009c0008t0002 a0029c0040t0013 a0045c0068t0003	a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0126 others(6): Show a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0126 a0004c0002t0004g0206 a0004c0002t0004g0215 a0006c0062t0001g0094 a0009c0008t0002g0104 a0029c0040t0013g0019 a0045c0068t0003g0168	9	238	0.0378	1	c.433 others(7): Show c.4339-8dupT		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	52/59				chr1	TogoVar
COL24A1_chr1_85724233_86161772	85823530	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA19010.hp2 NA18990.hp1 NA19010.hp2	a0005 a0010 a0005 a0010	a0005c0004 a0010c0009 a0005c0004 a0010c0009	a0005c0004t0001 a0010c0009t0001 a0005c0004t0001 a0010c0009t0001	a0005c0004t0001g0121 a0010c0009t0001g0036 a0005c0004t0001g0121 a0010c0009t0001g0036	2	238	0.0084	0	c.378 others(6): Show c.3789+6T>C		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	45/59				chr1	TogoVar
COL24A1_chr1_85724233_86161772	85823587	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0063 a0006c0063	a0006c0063t0002 a0006c0063t0002	a0006c0063t0002g0233 a0006c0063t0002g0233	1	238	0.0042	0	c.373 others(4): Show c.3738C>T	p.Gly others(7): Show p.Gly1246Gly	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	45/60	4114/6834	3738/5145	1246/1714	chr1	TogoVar
COL24A1_chr1_85724233_86161772	85849412	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0047 a0006c0047	a0006c0047t0005 a0006c0047t0005	a0006c0047t0005g0010 a0006c0047t0005g0010	1	238	0.0042	0	c.330 others(6): Show c.3301-6T>C		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59				chr1	TogoVar
COL24A1_chr1_85724233_86161772	85868633	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(99): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19082.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0018 a0021 a0022 a0023 a0026 a0027 a0029 a0030 a0031 a0033 a0039 a0044 a0047	a0001c0001 a0001c0005 a0002c0003 others(32): Show a0001c0001 a0001c0005 a0002c0003 a0003c0007 a0003c0016 a0003c0031 a0004c0002 a0005c0004 a0005c0072 a0006c0017 a0006c0028 a0006c0047 a0006c0061 a0006c0062 a0007c0014 a0008c0006 a0009c0008 a0010c0009 a0011c0015 a0012c0012 a0014c0020 a0015c0038 a0018c0023 a0021c0029 a0022c0030 a0023c0025 a0026c0036 a0027c0035 a0029c0040 a0030c0078 a0031c0043 a0033c0045 a0039c0048 a0044c0067 a0047c0073	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0005t0003 a0002c0003t0002 a0002c0003t0004 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0016t0005 a0003c0016t0006 a0003c0031t0004 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0004c0002t0004 a0004c0002t0007 a0005c0004t0001 a0005c0004t0002 a0005c0072t0001 a0006c0017t0006 a0006c0028t0002 a0006c0028t0003 a0006c0047t0005 a0006c0061t0003 a0006c0062t0001 a0007c0014t0001 a0007c0014t0017 a0008c0006t0001 a0008c0006t0002 a0009c0008t0002 a0009c0008t0014 a0010c0009t0001 a0010c0009t0002 a0010c0009t0003 a0011c0015t0002 a0012c0012t0001 a0012c0012t0002 a0014c0020t0002 a0015c0038t0002 a0018c0023t0004 a0021c0029t0001 a0022c0030t0002 a0023c0025t0004 a0026c0036t0001 a0027c0035t0015 a0029c0040t0013 a0030c0078t0002 a0031c0043t0004 a0033c0045t0005 a0039c0048t0002 a0044c0067t0001 a0047c0073t0002	a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0002g0092 others(99): Show a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0205 a0001c0001t0003g0157 a0001c0001t0010g0132 a0001c0001t0010g0142 a0001c0005t0003g0060 a0002c0003t0002g0141 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0004g0131 a0002c0003t0004g0216 a0003c0007t0001g0075 a0003c0007t0002g0076 a0003c0007t0002g0079 a0003c0007t0002g0080 a0003c0007t0002g0085 a0003c0007t0002g0088 a0003c0007t0002g0090 a0003c0007t0003g0074 a0003c0016t0005g0012 a0003c0016t0006g0013 a0003c0031t0004g0065 a0003c0031t0004g0066 a0004c0002t0001g0130 a0004c0002t0001g0153 a0004c0002t0001g0154 a0004c0002t0002g0129 a0004c0002t0002g0140 a0004c0002t0002g0183 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0004c0002t0004g0206 a0004c0002t0004g0215 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0005c0004t0001g0039 a0005c0004t0001g0040 a0005c0004t0001g0121 a0005c0004t0001g0176 a0005c0004t0001g0180 a0005c0004t0001g0194 a0005c0004t0002g0041 a0005c0004t0002g0179 a0005c0004t0002g0182 a0005c0004t0002g0185 a0005c0004t0002g0187 a0005c0004t0002g0189 a0005c0004t0002g0190 a0005c0072t0001g0191 a0006c0017t0006g0009 a0006c0028t0002g0086 a0006c0028t0003g0072 a0006c0047t0005g0010 a0006c0061t0003g0232 a0006c0062t0001g0094 a0007c0014t0001g0203 a0007c0014t0017g0238 a0008c0006t0001g0050 a0008c0006t0002g0047 a0008c0006t0002g0055 a0009c0008t0002g0104 a0009c0008t0014g0103 a0010c0009t0001g0031 a0010c0009t0001g0036 a0010c0009t0001g0044 a0010c0009t0001g0045 a0010c0009t0002g0053 a0010c0009t0003g0058 a0011c0015t0002g0027 a0012c0012t0001g0128 a0012c0012t0002g0032 a0012c0012t0002g0033 a0012c0012t0002g0135 a0014c0020t0002g0171 a0014c0020t0002g0172 a0014c0020t0002g0173 a0015c0038t0002g0023 a0018c0023t0004g0107 a0018c0023t0004g0108 a0021c0029t0001g0087 a0022c0030t0002g0081 a0023c0025t0004g0035 a0023c0025t0004g0234 a0026c0036t0001g0024 a0027c0035t0015g0029 a0029c0040t0013g0019 a0030c0078t0002g0237 a0031c0043t0004g0105 a0033c0045t0005g0008 a0039c0048t0002g0051 a0044c0067t0001g0175 a0047c0073t0002g0177	102	238	0.4286	0	c.319 others(6): Show c.3193-7A>G		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	36/59				chr1	TogoVar
COL24A1_chr1_85724233_86161772	86022298	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00639.hp1 HG00642.hp1 others(192): Show HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.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.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(43): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0042 a0043 a0045 a0046 a0047 a0048 a0049 a0050	a0001c0001 a0001c0005 a0001c0066 others(68): Show a0001c0001 a0001c0005 a0001c0066 a0002c0003 a0002c0011 a0003c0007 a0003c0016 a0003c0019 a0003c0024 a0003c0031 a0004c0002 a0004c0071 a0005c0004 a0005c0013 a0005c0072 a0006c0017 a0006c0028 a0006c0032 a0006c0047 a0006c0058 a0006c0061 a0006c0062 a0006c0063 a0007c0010 a0007c0014 a0007c0076 a0008c0006 a0009c0008 a0009c0042 a0009c0044 a0010c0009 a0011c0015 a0011c0034 a0012c0012 a0013c0018 a0015c0038 a0015c0039 a0016c0021 a0017c0022 a0018c0023 a0019c0051 a0019c0052 a0020c0059 a0020c0060 a0021c0029 a0022c0030 a0023c0025 a0025c0033 a0026c0036 a0027c0035 a0028c0037 a0029c0040 a0030c0078 a0031c0043 a0032c0064 a0033c0045 a0034c0053 a0035c0054 a0036c0055 a0037c0046 a0038c0057 a0039c0048 a0040c0050 a0042c0065 a0043c0069 a0045c0068 a0046c0070 a0047c0073 a0048c0075 a0049c0074 a0050c0077	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(101): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0066t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0016 a0002c0011t0001 a0002c0011t0002 a0002c0011t0003 a0003c0007t0002 a0003c0016t0005 a0003c0016t0006 a0003c0019t0003 a0003c0024t0005 a0003c0031t0004 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0004c0002t0004 a0004c0002t0007 a0004c0071t0001 a0005c0004t0001 a0005c0004t0002 a0005c0013t0002 a0005c0013t0003 a0005c0072t0001 a0006c0017t0005 a0006c0017t0006 a0006c0028t0002 a0006c0028t0003 a0006c0032t0003 a0006c0032t0012 a0006c0047t0005 a0006c0058t0001 a0006c0061t0003 a0006c0062t0001 a0006c0063t0002 a0007c0010t0003 a0007c0010t0004 a0007c0014t0001 a0007c0014t0003 a0007c0014t0017 a0007c0076t0001 a0008c0006t0001 a0008c0006t0002 a0009c0008t0001 a0009c0008t0002 a0009c0008t0014 a0009c0042t0003 a0009c0044t0011 a0010c0009t0001 a0010c0009t0002 a0010c0009t0003 a0011c0015t0001 a0011c0015t0002 a0011c0034t0003 a0012c0012t0001 a0012c0012t0002 a0013c0018t0004 a0015c0038t0002 a0015c0039t0003 a0016c0021t0001 a0017c0022t0003 a0017c0022t0011 a0018c0023t0004 a0019c0051t0002 a0019c0052t0003 a0020c0059t0002 a0020c0060t0002 a0021c0029t0001 a0022c0030t0002 a0022c0030t0006 a0023c0025t0004 a0025c0033t0001 a0026c0036t0001 a0027c0035t0015 a0028c0037t0002 a0029c0040t0013 a0030c0078t0002 a0031c0043t0004 a0032c0064t0003 a0033c0045t0005 a0034c0053t0009 a0035c0054t0004 a0036c0055t0009 a0037c0046t0006 a0038c0057t0003 a0039c0048t0002 a0040c0050t0001 a0042c0065t0004 a0043c0069t0004 a0045c0068t0003 a0046c0070t0002 a0047c0073t0002 a0048c0075t0008 a0049c0074t0003 a0050c0077t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 others(192): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0010g0132 a0001c0001t0010g0142 a0001c0005t0001g0133 a0001c0005t0001g0139 a0001c0005t0002g0169 a0001c0005t0002g0186 a0001c0005t0002g0195 a0001c0005t0003g0060 a0001c0005t0003g0207 a0001c0005t0003g0218 a0001c0005t0003g0224 a0001c0066t0001g0137 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0220 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0002g0141 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0156 a0002c0003t0003g0147 a0002c0003t0003g0210 a0002c0003t0003g0225 a0002c0003t0004g0131 a0002c0003t0004g0216 a0002c0003t0008g0150 a0002c0003t0016g0227 a0002c0011t0001g0192 a0002c0011t0002g0042 a0002c0011t0003g0211 a0002c0011t0003g0212 a0002c0011t0003g0213 a0003c0007t0002g0076 a0003c0016t0005g0012 a0003c0016t0006g0013 a0003c0019t0003g0067 a0003c0019t0003g0070 a0003c0024t0005g0014 a0003c0024t0005g0015 a0003c0031t0004g0065 a0003c0031t0004g0066 a0004c0002t0001g0127 a0004c0002t0001g0130 a0004c0002t0001g0151 a0004c0002t0001g0153 a0004c0002t0001g0154 a0004c0002t0001g0181 a0004c0002t0002g0129 a0004c0002t0002g0140 a0004c0002t0002g0183 a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0004c0002t0004g0206 a0004c0002t0004g0215 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0004c0071t0001g0152 a0005c0004t0001g0039 a0005c0004t0001g0040 a0005c0004t0001g0121 a0005c0004t0001g0176 a0005c0004t0001g0180 a0005c0004t0001g0194 a0005c0004t0001g0230 a0005c0004t0002g0041 a0005c0004t0002g0120 a0005c0004t0002g0179 a0005c0004t0002g0182 a0005c0004t0002g0185 a0005c0004t0002g0187 a0005c0004t0002g0189 a0005c0004t0002g0190 a0005c0013t0002g0138 a0005c0013t0002g0163 a0005c0013t0002g0198 a0005c0013t0003g0095 a0005c0072t0001g0191 a0006c0017t0005g0011 a0006c0017t0005g0016 a0006c0017t0006g0009 a0006c0028t0002g0086 a0006c0028t0003g0072 a0006c0032t0003g0068 a0006c0032t0012g0069 a0006c0047t0005g0010 a0006c0058t0001g0082 a0006c0061t0003g0232 a0006c0062t0001g0094 a0006c0063t0002g0233 a0007c0010t0003g0112 a0007c0010t0003g0199 a0007c0010t0003g0200 a0007c0010t0003g0201 a0007c0010t0003g0202 a0007c0010t0004g0149 a0007c0014t0001g0203 a0007c0014t0001g0221 a0007c0014t0003g0235 a0007c0014t0017g0238 a0007c0076t0001g0236 a0008c0006t0001g0056 a0008c0006t0002g0055 a0009c0008t0001g0101 a0009c0008t0002g0102 a0009c0008t0002g0104 a0009c0008t0002g0106 a0009c0008t0002g0109 a0009c0008t0014g0103 a0009c0042t0003g0111 a0009c0044t0011g0110 a0010c0009t0001g0031 a0010c0009t0001g0036 a0010c0009t0001g0044 a0010c0009t0001g0045 a0010c0009t0002g0053 a0010c0009t0003g0058 a0011c0015t0001g0028 a0011c0015t0001g0030 a0011c0015t0002g0027 a0011c0034t0003g0026 a0012c0012t0001g0128 a0012c0012t0002g0135 a0013c0018t0004g0061 a0013c0018t0004g0062 a0013c0018t0004g0063 a0015c0038t0002g0023 a0015c0039t0003g0025 a0016c0021t0001g0021 a0016c0021t0001g0022 a0017c0022t0003g0017 a0017c0022t0011g0018 a0018c0023t0004g0107 a0018c0023t0004g0108 a0019c0051t0002g0096 a0019c0052t0003g0098 a0020c0059t0002g0073 a0020c0060t0002g0071 a0021c0029t0001g0077 a0022c0030t0002g0081 a0022c0030t0006g0003 a0023c0025t0004g0035 a0023c0025t0004g0234 a0025c0033t0001g0196 a0025c0033t0001g0231 a0026c0036t0001g0024 a0027c0035t0015g0029 a0028c0037t0002g0020 a0029c0040t0013g0019 a0030c0078t0002g0237 a0031c0043t0004g0105 a0032c0064t0003g0093 a0033c0045t0005g0008 a0034c0053t0009g0006 a0035c0054t0004g0097 a0036c0055t0009g0005 a0037c0046t0006g0007 a0038c0057t0003g0083 a0039c0048t0002g0051 a0040c0050t0001g0052 a0042c0065t0004g0188 a0043c0069t0004g0124 a0045c0068t0003g0168 a0046c0070t0002g0204 a0047c0073t0002g0177 a0048c0075t0008g0217 a0049c0074t0003g0208 a0050c0077t0001g0197	195	238	0.8193	0	c.220 others(6): Show c.2203-5C>T		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	17/59				chr1	TogoVar
COL24A1_chr1_85724233_86161772	86050125	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0042 a0042	a0042c0065 a0042c0065	a0042c0065t0004 a0042c0065t0004	a0042c0065t0004g0188 a0042c0065t0004g0188	1	238	0.0042	0	c.190 others(4): Show c.1904G>A	p.Arg others(6): Show p.Arg635Gln	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	11/60	2280/6834	1904/5145	635/1714	chr1	TogoVar
COL24A1_chr1_85724233_86161772	86063707	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01099.hp2 HG01106.hp2 others(14): Show HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 HG04228.hp2 NA20805.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0015 a0023 a0031 a0032	a0001c0001 a0002c0003 a0004c0002 others(5): Show a0001c0001 a0002c0003 a0004c0002 a0007c0014 a0015c0039 a0023c0025 a0031c0043 a0032c0064	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(8): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0016 a0004c0002t0002 a0004c0002t0004 a0007c0014t0003 a0015c0039t0003 a0023c0025t0004 a0031c0043t0004 a0032c0064t0003	a0001c0001t0001g0119 a0002c0003t0001g0166 a0002c0003t0001g0167 others(14): Show a0001c0001t0001g0119 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0220 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0002g0156 a0002c0003t0016g0227 a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0004g0215 a0007c0014t0003g0235 a0015c0039t0003g0025 a0023c0025t0004g0035 a0031c0043t0004g0105 a0032c0064t0003g0093	17	238	0.0714	0	c.175 others(6): Show c.1752+8C>T		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	8/59				chr1	TogoVar
COL24A1_chr1_85724233_86161772	86156341	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0030 a0030	a0030c0078 a0030c0078	a0030c0078t0002 a0030c0078t0002	a0030c0078t0002g0237 a0030c0078t0002g0237	1	238	0.0042	0	c.56C others(2): Show c.56C>T	p.Thr others(5): Show p.Thr19Met	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	1/60	432/6834	56/5145	19/1714	chr1	TogoVar
COL25A1_chr4_108803725_109307658	108974557	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0022 a0001c0006t0015g0022	1	130	0.0077	0	c.441 others(3): Show c.441C>A	p.Gly others(6): Show p.Gly147Gly	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	7/38	987/7713	441/1965	147/654	chr4	TogoVar
COL25A1_chr4_108803725_109307658	108974562	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(44): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18952.hp1 NA19079.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0005t0005 a0001c0006t0015 a0002c0011t0007	a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0074 others(44): Show a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0075 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0006g0049 a0001c0001t0007g0090 a0001c0001t0011g0044 a0001c0001t0011g0047 a0001c0001t0014g0012 a0001c0001t0019g0023 a0001c0001t0026g0046 a0001c0001t0027g0086 a0001c0002t0001g0066 a0001c0002t0001g0089 a0001c0002t0001g0130 a0001c0002t0004g0024 a0001c0002t0004g0031 a0001c0002t0005g0042 a0001c0002t0005g0065 a0001c0002t0005g0112 a0001c0002t0008g0087 a0001c0002t0009g0006 a0001c0002t0009g0029 a0001c0004t0001g0040 a0001c0004t0003g0014 a0001c0005t0002g0123 a0001c0005t0002g0124 a0001c0005t0005g0122 a0001c0006t0015g0022 a0002c0011t0007g0061	47	130	0.3615	-1	c.439 others(6): Show c.439-4delT		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37				chr4	TogoVar
COL25A1_chr4_108803725_109307658	109048181	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(80): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18952.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0011 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0024 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0029 a0001c0005t0005 a0001c0006t0015 a0002c0011t0007 a0003c0008t0003	a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0003g0005 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0064 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0007g0090 a0001c0001t0011g0047 a0001c0001t0012g0096 a0001c0001t0012g0106 a0001c0001t0019g0023 a0001c0001t0028g0084 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0052 a0001c0002t0001g0066 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0003g0010 a0001c0002t0004g0011 a0001c0002t0005g0042 a0001c0002t0005g0065 a0001c0002t0005g0112 a0001c0002t0007g0115 a0001c0002t0008g0060 a0001c0002t0009g0006 a0001c0002t0009g0029 a0001c0002t0010g0013 a0001c0002t0010g0030 a0001c0002t0021g0082 a0001c0002t0022g0073 a0001c0002t0025g0050 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0004g0001 a0001c0003t0024g0045 a0001c0004t0001g0040 a0001c0004t0001g0043 a0001c0004t0002g0083 a0001c0004t0004g0027 a0001c0004t0029g0095 a0001c0005t0005g0122 a0001c0006t0015g0022 a0002c0011t0007g0061 a0003c0008t0003g0034	83	130	0.6385	0	c.413 others(5): Show c.413-6C>A		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	4/37				chr4	TogoVar
COL25A1_chr4_108803725_109307658	109302164	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp2 HG00558.hp2 others(87): Show HG00140.hp2 HG00323.hp2 HG00558.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18952.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19079.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0003t0024 a0001c0004t0001 a0001c0004t0002 a0001c0004t0029 a0001c0005t0002 a0001c0005t0005 a0001c0009t0002 a0002c0011t0007	a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 others(87): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0064 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0007g0090 a0001c0001t0011g0044 a0001c0001t0011g0047 a0001c0001t0012g0096 a0001c0001t0012g0106 a0001c0001t0026g0046 a0001c0001t0027g0086 a0001c0001t0028g0084 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0052 a0001c0002t0001g0066 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0005g0042 a0001c0002t0005g0065 a0001c0002t0005g0112 a0001c0002t0007g0115 a0001c0002t0008g0060 a0001c0002t0008g0087 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0002t0021g0082 a0001c0002t0022g0073 a0001c0002t0025g0050 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0107 a0001c0003t0004g0001 a0001c0003t0008g0036 a0001c0003t0024g0045 a0001c0004t0001g0040 a0001c0004t0001g0043 a0001c0004t0002g0083 a0001c0004t0029g0095 a0001c0005t0002g0123 a0001c0005t0002g0124 a0001c0005t0005g0122 a0001c0009t0002g0097 a0002c0011t0007g0061	90	130	0.6923	0	c.-57 others(5): Show c.-57+5G>A		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	1/37				chr4	TogoVar
COL26A1_chr7_101357875_101564024	101540049	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0012 a0004c0011t0003g0038 a0004c0011t0003g0012 a0004c0011t0003g0038	2	174	0.0115	0	c.604 others(3): Show c.604G>A	p.Gly others(6): Show p.Gly202Arg	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	5/13	762/2978	604/1326	202/441	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101551143	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(56): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18985.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0005 a0001c0008 a0001c0009 others(8): Show a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0002c0004 a0002c0007 a0003c0010 a0003c0017 a0003c0018 a0003c0020 a0005c0015	a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 others(20): Show a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0011 a0001c0005t0012 a0001c0005t0023 a0001c0005t0029 a0001c0008t0007 a0001c0009t0003 a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 a0002c0004t0001 a0002c0004t0024 a0002c0004t0030 a0002c0007t0004 a0003c0010t0005 a0003c0010t0022 a0003c0010t0027 a0003c0017t0006 a0003c0018t0019 a0003c0020t0008 a0005c0015t0013	a0001c0005t0002g0118 a0001c0005t0002g0149 a0001c0005t0002g0155 others(56): Show a0001c0005t0002g0118 a0001c0005t0002g0149 a0001c0005t0002g0155 a0001c0005t0002g0160 a0001c0005t0005g0106 a0001c0005t0005g0144 a0001c0005t0005g0167 a0001c0005t0008g0085 a0001c0005t0008g0128 a0001c0005t0011g0147 a0001c0005t0012g0082 a0001c0005t0012g0089 a0001c0005t0012g0146 a0001c0005t0023g0116 a0001c0005t0029g0092 a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0076 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0121 a0001c0009t0003g0026 a0001c0009t0006g0019 a0001c0009t0013g0014 a0001c0013t0010g0028 a0001c0013t0010g0039 a0002c0004t0001g0063 a0002c0004t0001g0070 a0002c0004t0001g0097 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0138 a0002c0004t0001g0145 a0002c0004t0001g0148 a0002c0004t0001g0150 a0002c0004t0001g0156 a0002c0004t0001g0157 a0002c0004t0001g0168 a0002c0004t0001g0171 a0002c0004t0024g0095 a0002c0004t0030g0170 a0002c0007t0004g0007 a0002c0007t0004g0008 a0002c0007t0004g0009 a0002c0007t0004g0018 a0002c0007t0004g0020 a0002c0007t0004g0037 a0002c0007t0004g0046 a0002c0007t0004g0053 a0003c0010t0005g0165 a0003c0010t0022g0166 a0003c0010t0027g0172 a0003c0017t0006g0006 a0003c0018t0019g0005 a0003c0020t0008g0066 a0005c0015t0013g0036	59	174	0.3391	0	c.102 others(4): Show c.1029C>T	p.Ser others(6): Show p.Ser343Ser	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	10/13	1187/2978	1029/1326	343/441	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114206303	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19084.hp1 NA19084.hp1	a0004 a0004	a0004c0075 a0004c0075	a0004c0075t0009 a0004c0075t0009	a0004c0075t0009g0217 a0004c0075t0009g0217	1	308	0.0033	0	c.226 others(6): Show c.2268+7G>A		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	10/60				chr9	TogoVar
COL27A1_chr9_114150537_114317511	114252875	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02572.hp1	a0029 a0029	a0029c0058 a0029c0058	a0029c0058t0006 a0029c0058t0006	a0029c0058t0006g0039 a0029c0058t0006g0039	1	308	0.0033	0	c.308 others(6): Show c.3088-4G>A		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	26/60				chr9	TogoVar
COL27A1_chr9_114150537_114317511	114258602	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02630.hp2 HG03209.hp1 HG02615.hp2 HG02630.hp2 HG03209.hp1	a0009 a0028 a0009 a0028	a0009c0042 a0028c0065 a0009c0042 a0028c0065	a0009c0042t0006 a0009c0042t0008 a0028c0065t0006 a0009c0042t0006 a0009c0042t0008 a0028c0065t0006	a0009c0042t0006g0199 a0009c0042t0008g0093 a0028c0065t0006g0012 a0009c0042t0006g0199 a0009c0042t0008g0093 a0028c0065t0006g0012	3	308	0.0097	0	c.319 others(6): Show c.3195+8G>A		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	28/60				chr9	TogoVar
COL27A1_chr9_114150537_114317511	114269292	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19081.hp2 NA19081.hp2	a0040 a0040	a0040c0150 a0040c0150	a0040c0150t0003 a0040c0150t0003	a0040c0150t0003g0249 a0040c0150t0003g0249	1	308	0.0033	0	c.355 others(4): Show c.3553C>T	p.Arg others(7): Show p.Arg1185Trp	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	35/61	3967/7813	3553/5583	1185/1860	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114282563	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp1 HG03453.hp2 HG02280.hp1 HG03453.hp2	a0034 a0060 a0034 a0060	a0034c0133 a0060c0054 a0034c0133 a0060c0054	a0034c0133t0001 a0060c0054t0014 a0034c0133t0001 a0060c0054t0014	a0034c0133t0001g0190 a0060c0054t0014g0030 a0034c0133t0001g0190 a0060c0054t0014g0030	2	308	0.0065	0	c.387 others(4): Show c.3878C>T	p.Thr others(7): Show p.Thr1293Met	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	39/61	4292/7813	3878/5583	1293/1860	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114288510	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG02257.hp1 HG02258.hp2 others(13): Show HG01884.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG03516.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0009 a0031 a0035 others(5): Show a0009 a0031 a0035 a0041 a0048 a0054 a0055 a0057	a0009c0039 a0009c0042 a0009c0043 others(10): Show a0009c0039 a0009c0042 a0009c0043 a0009c0102 a0009c0138 a0009c0140 a0031c0157 a0035c0119 a0041c0170 a0048c0081 a0054c0186 a0055c0185 a0057c0176	a0009c0039t0006 a0009c0039t0008 a0009c0042t0006 others(12): Show a0009c0039t0006 a0009c0039t0008 a0009c0042t0006 a0009c0042t0008 a0009c0043t0006 a0009c0102t0001 a0009c0138t0006 a0009c0140t0019 a0031c0157t0002 a0035c0119t0006 a0041c0170t0032 a0048c0081t0006 a0054c0186t0002 a0055c0185t0001 a0057c0176t0001	a0009c0039t0006g0203 a0009c0039t0008g0055 a0009c0042t0006g0199 others(13): Show a0009c0039t0006g0203 a0009c0039t0008g0055 a0009c0042t0006g0199 a0009c0042t0008g0093 a0009c0043t0006g0044 a0009c0043t0006g0046 a0009c0102t0001g0027 a0009c0138t0006g0152 a0009c0140t0019g0209 a0031c0157t0002g0008 a0035c0119t0006g0045 a0041c0170t0032g0147 a0048c0081t0006g0071 a0054c0186t0002g0149 a0055c0185t0001g0171 a0057c0176t0001g0006	16	308	0.0520	0	c.404 others(4): Show c.4043G>A	p.Arg others(7): Show p.Arg1348Gln	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	42/61	4457/7813	4043/5583	1348/1860	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114301125	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18945.hp1 NA18945.hp1	a0004 a0004	a0004c0073 a0004c0073	a0004c0073t0004 a0004c0073t0004	a0004c0073t0004g0003 a0004c0073t0004g0003	1	308	0.0033	0	c.475 others(4): Show c.4755G>A	p.Pro others(7): Show p.Pro1585Pro	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	52/61	5169/7813	4755/5583	1585/1860	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114302076	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0006 a0001c0114t0006	a0001c0114t0006g0077 a0001c0114t0006g0077	1	308	0.0033	0	c.484 others(6): Show c.4846-6T>C		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	55/60				chr9	TogoVar
COL28A1_chr7_7352875_7540873	7380698	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02976.hp1 HG03195.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1	a0022 a0026 a0031 a0022 a0026 a0031	a0022c0026 a0026c0043 a0031c0033 a0022c0026 a0026c0043 a0031c0033	a0022c0026t0007 a0026c0043t0007 a0031c0033t0003 a0022c0026t0007 a0026c0043t0007 a0031c0033t0003	a0022c0026t0007g0164 a0026c0043t0007g0029 a0031c0033t0003g0031 a0022c0026t0007g0164 a0026c0043t0007g0029 a0031c0033t0003g0031	3	196	0.0153	0	c.228 others(6): Show c.2287-3T>C		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	29/34				chr7	TogoVar
COL28A1_chr7_7352875_7540873	7436396	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0003 a0032c0034t0003	a0032c0034t0003g0038 a0032c0034t0003g0038	1	196	0.0051	0	c.185 others(4): Show c.1859A>C	p.Lys others(6): Show p.Lys620Thr	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	23/35	2020/4297	1859/3378	620/1125	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7436467	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02055.hp1 HG02145.hp2 others(11): Show HG01243.hp1 HG02055.hp1 HG02145.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03540.hp2 NA18612.hp2	a0002 a0019 a0027 others(1): Show a0002 a0019 a0027 a0028	a0002c0002 a0002c0004 a0002c0049 others(3): Show a0002c0002 a0002c0004 a0002c0049 a0019c0024 a0027c0042 a0028c0036	a0002c0002t0002 a0002c0002t0006 a0002c0004t0003 others(4): Show a0002c0002t0002 a0002c0002t0006 a0002c0004t0003 a0002c0049t0003 a0019c0024t0003 a0027c0042t0002 a0028c0036t0010	a0002c0002t0002g0015 a0002c0002t0006g0002 a0002c0004t0003g0026 others(11): Show a0002c0002t0002g0015 a0002c0002t0006g0002 a0002c0004t0003g0026 a0002c0004t0003g0027 a0002c0004t0003g0028 a0002c0004t0003g0032 a0002c0004t0003g0033 a0002c0004t0003g0070 a0002c0004t0003g0088 a0002c0004t0003g0186 a0002c0049t0003g0189 a0019c0024t0003g0167 a0027c0042t0002g0089 a0028c0036t0010g0001	14	196	0.0714	0	c.179 others(6): Show c.1792-4A>G		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	22/34				chr7	TogoVar
COL2A1_chr12_47967967_48009476	47983086	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG02559.hp1 HG00741.hp1 HG02559.hp1	a0001 a0001	a0001c0027 a0001c0042 a0001c0027 a0001c0042	a0001c0027t0001 a0001c0042t0001 a0001c0027t0001 a0001c0042t0001	a0001c0027t0001g0229 a0001c0042t0001g0186 a0001c0027t0001g0229 a0001c0042t0001g0186	2	414	0.0048	0	c.209 others(6): Show c.2094+7A>G		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	32/53				chr12	TogoVar
COL2A1_chr12_47967967_48009476	47984597	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0186 a0001c0042t0001g0186	1	414	0.0024	0	c.183 others(4): Show c.1836T>C	p.Gly others(6): Show p.Gly612Gly	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	28/54	1991/5059	1836/4464	612/1487	chr12	TogoVar

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