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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CTNNB1_chr3_41194505_41245443	41224522	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02280.hp2 HG02109.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0102 a0001c0001t0018g0103 a0001c0001t0018g0102 a0001c0001t0018g0103	2	342	0.0059	0	c.14- others(4): Show c.14-4A>G		CTNNB1	ENSG00000168036.18	transcript	ENST00000349496.11	protein_coding	2/14					chr3	TogoVar
CTNND1_chr11_57756802_57824540	57791377	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02895.hp2 HG03540.hp2 others(1): Show HG02647.hp1 HG02895.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0157	4	288	0.0139	0	c.-94 others(5): Show c.-94-8C>G		CTNND1	ENSG00000198561.16	transcript	ENST00000399050.10	protein_coding	2/20					chr11	TogoVar
CTNND2_chr5_10966836_11909446	11903810	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	26	0.0385	0	c.37+ others(4): Show c.37+7T>G		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21					chr5	TogoVar
CTNS_chr17_3631760_3668103	3656480	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01258.hp2 HG01433.hp1 HG01258.hp2 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0033 a0002c0002t0007g0033	2	372	0.0054	0	c.462 others(5): Show c.462-7C>A		CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11					chr17	TogoVar
CTNS_chr17_3631760_3668103	3656487	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp2 HG02055.hp1 HG02055.hp2 others(17): Show HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0008 a0003c0005 a0001c0004 a0002c0008 a0003c0005	a0001c0004t0005 a0001c0004t0008 a0001c0004t0018 others(8): Show a0001c0004t0005 a0001c0004t0008 a0001c0004t0018 a0001c0004t0026 a0001c0004t0027 a0001c0004t0056 a0001c0004t0057 a0001c0004t0058 a0001c0004t0059 a0002c0008t0075 a0003c0005t0008	a0001c0004t0005g0062 a0001c0004t0008g0037 a0001c0004t0018g0117 others(16): Show a0001c0004t0005g0062 a0001c0004t0008g0037 a0001c0004t0018g0117 a0001c0004t0018g0118 a0001c0004t0018g0119 a0001c0004t0026g0299 a0001c0004t0026g0300 a0001c0004t0027g0295 a0001c0004t0027g0296 a0001c0004t0056g0108 a0001c0004t0057g0298 a0001c0004t0058g0112 a0001c0004t0059g0297 a0002c0008t0075g0293 a0003c0005t0008g0041 a0003c0005t0008g0042 a0003c0005t0008g0043 a0003c0005t0008g0044 a0003c0005t0008g0301	20	372	0.0538	0	c.462 others(3): Show c.462T>C	p.Ser others(6): Show p.Ser154Ser	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	8/12	763/4139	462/1104	154/367		chr17	TogoVar
CTPS1_chr1_40974696_41017565	40991246	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0051 a0001c0008t0001g0051	1	388	0.0026	0	c.637 others(3): Show c.637C>T	p.Leu others(6): Show p.Leu213Leu	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	6/19	784/2840	637/1776	213/591		chr1	TogoVar
CTPS1_chr1_40974696_41017565	41007451	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18956.hp2 NA19063.hp1 NA18956.hp2 NA19063.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0066 a0001c0004t0002g0072 a0001c0004t0002g0066 a0001c0004t0002g0072	2	388	0.0052	0	c.129 others(4): Show c.1299C>T	p.Val others(6): Show p.Val433Val	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	14/19	1446/2840	1299/1776	433/591		chr1	TogoVar
CTPS1_chr1_40974696_41017565	41010161	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0181 a0001c0007t0002g0181	1	388	0.0026	0	c.169 others(4): Show c.1692G>A	p.Arg others(6): Show p.Arg564Arg	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	18/19	1839/2840	1692/1776	564/591		chr1	TogoVar
CTR9_chr11_10746246_10784746	10767803	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	406	0.0025	0	c.168 others(6): Show c.1687-3C>T		CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	13/24					chr11	TogoVar
CTR9_chr11_10746246_10784746	10770640	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	406	0.0025	0	c.237 others(6): Show c.2372+8T>A		CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	18/24					chr11	TogoVar
CTRL_chr16_67924574_67936862	67931094	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	312	0.0032	0	c.156 others(5): Show c.156+4C>G		CTRL	ENSG00000141086.18	transcript	ENST00000574481.6	protein_coding	2/6					chr16	TogoVar
CTRL_chr16_67924574_67936862	67931099	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0029 a0009c0010t0001g0029	1	312	0.0032	0	c.155 others(3): Show c.155A>G	p.Gln others(5): Show p.Gln52Arg	CTRL	ENSG00000141086.18	transcript	ENST00000574481.6	protein_coding	2/7	165/1165	155/795	52/264		chr16	TogoVar
CTSA_chr20_45886335_45903820	45893317	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	430	0.0023	0	c.692 others(5): Show c.692+6G>A		CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding	7/14					chr20	TogoVar
CTSA_chr20_45886335_45903820	45894908	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(308): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0002c0002t0001 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0002 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0001g0054 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0021 a0001c0004t0001g0036 a0001c0004t0001g0053 a0001c0004t0001g0057 a0001c0004t0001g0062 a0001c0005t0001g0024 a0001c0005t0001g0037 a0001c0006t0001g0025 a0002c0002t0001g0031 a0004c0007t0001g0007	311	430	0.7233	0	c.948 others(5): Show c.948+7G>A		CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding	10/14					chr20	TogoVar
CTSC_chr11_88288592_88342736	88335088	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00544.hp1 HG00642.hp1 others(41): Show HG00140.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp2 HG01109.hp1 HG01123.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03579.hp2 HG03831.hp2 HG04204.hp1 NA18940.hp2 NA18950.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18979.hp1 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19055.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0232 others(30): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0232 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0228	44	434	0.1014	-1	c.173 others(6): Show c.173-7delT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	1/6					chr11	TogoVar
CTSD_chr11_1747755_1768927	1753677	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01069.hp2 HG00323.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	2	386	0.0052	0	c.107 others(6): Show c.1072-7G>A		CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	8/8					chr11	TogoVar
CTSD_chr11_1747755_1768927	1753796	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	386	0.0026	0	c.107 others(6): Show c.1071+7G>A		CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	8/8					chr11	TogoVar
CTSD_chr11_1747755_1768927	1759637	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(14): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG02027.hp1 HG02280.hp1 HG02683.hp2 HG02976.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0017 a0002c0003t0002 a0002c0003t0003 a0002c0003t0017	a0002c0003t0002g0011 a0002c0003t0002g0020 a0002c0003t0002g0065 others(8): Show a0002c0003t0002g0011 a0002c0003t0002g0020 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0003g0071 a0002c0003t0003g0072 a0002c0003t0017g0193	17	386	0.0440	0	c.231 others(3): Show c.231C>T	p.Ala others(5): Show p.Ala77Ala	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	3/9	299/2055	231/1239	77/412		chr11	TogoVar
CTSE_chr1_206004264_206028895	206012500	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG03017.hp1 HG03491.hp2 others(3): Show HG02698.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	6	302	0.0199	0	c.927 others(5): Show c.927+8C>T		CTSE	ENSG00000196188.12	transcript	ENST00000358184.7	protein_coding	7/8					chr1	TogoVar
CTSE_chr1_206004264_206028895	206022270	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18995.hp1 NA18944.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	302	0.0066	0	c.226 others(5): Show c.226-3C>T		CTSE	ENSG00000196188.12	transcript	ENST00000358184.7	protein_coding	2/8					chr1	TogoVar
CTSF_chr11_66558464_66573606	66566165	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18990.hp1 NA18990.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0033 a0007c0011t0001g0033	1	412	0.0024	0	c.724 others(3): Show c.724G>C	p.Glu others(6): Show p.Glu242Gln	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	6/13	844/2044	724/1455	242/484		chr11	TogoVar
CTSF_chr11_66558464_66573606	66566167	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18990.hp1 NA18990.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0033 a0007c0011t0001g0033	1	412	0.0024	0	c.722 others(3): Show c.722A>C	p.Glu others(6): Show p.Glu241Ala	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	6/13	842/2044	722/1455	241/484		chr11	TogoVar
CTSF_chr11_66558464_66573606	66566170	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA18990.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0033 a0007c0011t0001g0033	1	412	0.0024	0	c.722 others(5): Show c.722-3C>T		CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	5/12					chr11	TogoVar
CTSF_chr11_66558464_66573606	66566171	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA18990.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0033 a0007c0011t0001g0033	1	412	0.0024	0	c.722 others(5): Show c.722-4G>A		CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	5/12					chr11	TogoVar
CTSF_chr11_66558464_66573606	66566172	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00609.hp2 others(39): Show HG00280.hp1 HG00323.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp1 HG01928.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02602.hp2 HG02735.hp1 HG03669.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19007.hp2 NA19056.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0011 a0001c0002 a0007c0011	a0001c0002t0003 a0001c0002t0006 a0007c0011t0001 a0001c0002t0003 a0001c0002t0006 a0007c0011t0001	a0001c0002t0003g0004 a0001c0002t0003g0011 a0001c0002t0003g0019 others(4): Show a0001c0002t0003g0004 a0001c0002t0003g0011 a0001c0002t0003g0019 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0006g0029 a0007c0011t0001g0033	42	412	0.1019	0	c.722 others(5): Show c.722-5C>T		CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	5/12					chr11	TogoVar
CTSF_chr11_66558464_66573606	66566173	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA18990.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0033 a0007c0011t0001g0033	1	412	0.0024	0	c.722 others(5): Show c.722-6C>A		CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	5/12					chr11	TogoVar
CTSF_chr11_66558464_66573606	66566174	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA18990.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0033 a0007c0011t0001g0033	1	412	0.0024	0	c.722 others(5): Show c.722-7C>A		CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	5/12					chr11	TogoVar
CTSG_chr14_24568518_24581250	24573808	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01070.hp1 HG01070.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0026 a0006c0009t0001g0026	1	440	0.0023	0	c.597 others(3): Show c.597G>A	p.Gly others(6): Show p.Gly199Gly	CTSG	ENSG00000100448.4	transcript	ENST00000216336.3	protein_coding	5/5	624/914	597/768	199/255		chr14	TogoVar
CTSH_chr15_78916058_78950046	78935673	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	414	0.0024	0	c.300 others(5): Show c.300+7A>G		CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	4/11					chr15	TogoVar
CTSH_chr15_78916058_78950046	78937430	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	414	0.0024	0	c.124 others(5): Show c.124-7G>A		CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	2/11					chr15	TogoVar
CTSH_chr15_78916058_78950046	78939136	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00733.hp2 others(37): Show HG00280.hp1 HG00323.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02145.hp2 HG02165.hp2 HG02572.hp2 HG02602.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18964.hp1 NA18984.hp2 NA18988.hp1 NA19030.hp1 NA19054.hp2 NA19063.hp2 NA19081.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0004 a0005c0007 a0001c0002 a0003c0004 a0005c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0007 a0003c0004t0009 a0005c0007t0001	a0001c0002t0001g0103 a0001c0002t0001g0245 a0001c0002t0001g0247 others(36): Show a0001c0002t0001g0103 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0254 a0001c0002t0003g0248 a0001c0002t0005g0085 a0001c0002t0005g0231 a0001c0002t0005g0244 a0001c0002t0005g0246 a0001c0002t0005g0253 a0003c0004t0001g0044 a0003c0004t0004g0046 a0003c0004t0004g0047 a0003c0004t0004g0053 a0003c0004t0004g0060 a0003c0004t0004g0061 a0003c0004t0005g0014 a0003c0004t0005g0042 a0003c0004t0005g0049 a0003c0004t0005g0050 a0003c0004t0005g0054 a0003c0004t0005g0055 a0003c0004t0005g0058 a0003c0004t0005g0059 a0003c0004t0005g0062 a0003c0004t0007g0043 a0003c0004t0007g0048 a0003c0004t0007g0051 a0003c0004t0007g0052 a0003c0004t0007g0056 a0003c0004t0007g0057 a0003c0004t0009g0045 a0005c0007t0001g0063 a0005c0007t0001g0064 a0005c0007t0001g0065 a0005c0007t0001g0066 a0005c0007t0001g0067	40	414	0.0966	0	c.123 others(5): Show c.123+4A>G		CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	2/11					chr15	TogoVar
CTSH_chr15_78916058_78950046	78939176	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(153): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0010 a0011	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0007c0009 a0010c0012 a0011c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0012 a0002c0003t0014 a0002c0003t0015 a0002c0003t0021 a0004c0005t0001 a0004c0005t0003 a0007c0009t0002 a0010c0012t0002 a0011c0011t0002	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0002t0001g0122 others(132): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0150 a0001c0002t0001g0243 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0003g0001 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0100 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0252 a0001c0002t0005g0132 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0140 a0001c0002t0010g0149 a0001c0002t0011g0108 a0001c0002t0011g0109 a0001c0002t0011g0136 a0001c0002t0018g0135 a0001c0002t0019g0131 a0002c0003t0002g0013 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0266 a0002c0003t0002g0270 a0002c0003t0002g0272 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0284 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0002g0289 a0002c0003t0002g0290 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0301 a0002c0003t0002g0304 a0002c0003t0002g0305 a0002c0003t0002g0306 a0002c0003t0002g0307 a0002c0003t0002g0308 a0002c0003t0002g0309 a0002c0003t0002g0311 a0002c0003t0002g0312 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0318 a0002c0003t0002g0320 a0002c0003t0002g0323 a0002c0003t0002g0326 a0002c0003t0002g0328 a0002c0003t0002g0329 a0002c0003t0002g0330 a0002c0003t0002g0331 a0002c0003t0002g0335 a0002c0003t0002g0336 a0002c0003t0002g0338 a0002c0003t0002g0339 a0002c0003t0002g0340 a0002c0003t0002g0341 a0002c0003t0006g0271 a0002c0003t0006g0274 a0002c0003t0006g0291 a0002c0003t0006g0303 a0002c0003t0006g0310 a0002c0003t0006g0317 a0002c0003t0006g0322 a0002c0003t0006g0332 a0002c0003t0008g0333 a0002c0003t0012g0321 a0002c0003t0012g0324 a0002c0003t0012g0334 a0002c0003t0014g0319 a0002c0003t0014g0325 a0002c0003t0015g0285 a0002c0003t0015g0288 a0002c0003t0021g0337 a0004c0005t0001g0112 a0004c0005t0003g0005 a0004c0005t0003g0019 a0004c0005t0003g0099 a0004c0005t0003g0107 a0004c0005t0003g0110 a0004c0005t0003g0111 a0007c0009t0002g0265 a0010c0012t0002g0327 a0011c0011t0002g0302	156	414	0.3768	0	c.92- others(4): Show c.92-5T>C		CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	1/11					chr15	TogoVar
CTSO_chr4_155919118_155958866	155926078	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(247): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0184 a0001c0001t0007g0026 a0001c0001t0007g0065 a0001c0001t0010g0036 a0001c0001t0011g0129 a0001c0001t0012g0061 a0001c0001t0013g0117 a0001c0001t0014g0121 a0001c0001t0015g0140 a0001c0001t0016g0132 a0001c0001t0017g0161 a0001c0001t0018g0168 a0001c0001t0020g0108	250	348	0.7184	0	c.932 others(5): Show c.932-8T>C		CTSO	ENSG00000256043.5	transcript	ENST00000433477.4	protein_coding	7/7					chr4	TogoVar
CTSS_chr1_150725188_150770778	150764768	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	344	0.0029	0	c.-1- others(4): Show c.-1-4A>T		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	1/7					chr1	TogoVar
CTSV_chr9_97024677_97044142	97037920	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0040 a0004c0004t0002g0040	1	410	0.0024	0	c.124 others(3): Show c.124G>A	p.Ala others(5): Show p.Ala42Thr	CTSV	ENSG00000136943.12	transcript	ENST00000259470.6	protein_coding	2/8	206/4359	124/1005	42/334		chr9	TogoVar
CTSW_chr11_65874837_65888741	65882779	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0006 a0004c0007t0001g0006	1	366	0.0027	0	c.620 others(3): Show c.620G>A	p.Ser others(6): Show p.Ser207Asn	CTSW	ENSG00000172543.9	transcript	ENST00000307886.8	protein_coding	7/10	638/1272	620/1131	207/376		chr11	TogoVar
CTSW_chr11_65874837_65888741	65882779	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0001 a0009c0008t0001g0001	1	366	0.0027	0	c.620 others(3): Show c.620G>C	p.Ser others(6): Show p.Ser207Thr	CTSW	ENSG00000172543.9	transcript	ENST00000307886.8	protein_coding	7/10	638/1272	620/1131	207/376		chr11	TogoVar
CTSW_chr11_65874837_65888741	65882780	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0001 a0009c0008t0001g0001	1	366	0.0027	0	c.621 others(3): Show c.621C>G	p.Ser others(6): Show p.Ser207Arg	CTSW	ENSG00000172543.9	transcript	ENST00000307886.8	protein_coding	7/10	639/1272	621/1131	207/376		chr11	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449175	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18988.hp2 NA19091.hp1 NA18988.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0024 a0001c0002t0002 a0001c0002t0024	a0001c0002t0002g0099 a0001c0002t0024g0109 a0001c0002t0002g0099 a0001c0002t0024g0109	2	324	0.0062	0	c.330 others(5): Show c.330+3A>G		CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5					chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112455917	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01106.hp1 HG01168.hp1 others(3): Show HG00741.hp2 HG01106.hp1 HG01168.hp1 HG01261.hp1 HG01934.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(3): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0255	6	324	0.0185	1	c.439 others(6): Show c.439-5dupT		CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	5/5				INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTN_chr11_70393529_70441575	70405267	G G	A A	splice_region_variant splice_region_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0216 a0001c0001t0024g0216	1	322	0.0031	0	c.-95 others(3): Show c.-95G>A		CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	2/18					chr11	TogoVar
CTTN_chr11_70393529_70441575	70415725	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	322	0.0031	0	c.457 others(5): Show c.457+8G>A		CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	7/17					chr11	TogoVar
CTTN_chr11_70393529_70441575	70429203	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02572.hp2 HG02630.hp1 others(11): Show HG02109.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA19043.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0008 a0002c0004 a0005c0008	a0002c0004t0001 a0002c0004t0004 a0002c0004t0010 others(1): Show a0002c0004t0001 a0002c0004t0004 a0002c0004t0010 a0005c0008t0004	a0002c0004t0001g0078 a0002c0004t0004g0004 a0002c0004t0004g0042 others(5): Show a0002c0004t0001g0078 a0002c0004t0004g0004 a0002c0004t0004g0042 a0002c0004t0004g0233 a0002c0004t0004g0235 a0002c0004t0004g0240 a0002c0004t0010g0004 a0005c0008t0004g0234	14	322	0.0435	0	c.117 others(6): Show c.1176+4A>G		CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	14/17					chr11	TogoVar
CTU2_chr16_88701503_88720396	88712624	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(64): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02080.hp1 HG02293.hp2 HG02300.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0002 a0012 a0013 a0002 a0012 a0013	a0002c0002 a0002c0015 a0002c0022 others(2): Show a0002c0002 a0002c0015 a0002c0022 a0012c0023 a0013c0021	a0002c0002t0001 a0002c0015t0001 a0002c0022t0001 others(2): Show a0002c0002t0001 a0002c0015t0001 a0002c0022t0001 a0012c0023t0001 a0013c0021t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0007 others(20): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0114 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0015t0001g0002 a0002c0022t0001g0148 a0012c0023t0001g0115 a0013c0021t0001g0050	67	418	0.1603	0	c.456 others(3): Show c.456G>C	p.Val others(6): Show p.Val152Val	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/15	484/1721	456/1548	152/515		chr16	TogoVar
CTU2_chr16_88701503_88720396	88714226	AGGTGTG AGGTGTG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(337): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0009 a0012 a0013 a0015 a0017 a0018	a0001c0001 a0001c0009 a0001c0013 others(25): Show a0001c0001 a0001c0009 a0001c0013 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0036 a0001c0037 a0002c0002 a0002c0003 a0002c0015 a0002c0016 a0002c0017 a0002c0022 a0002c0024 a0003c0004 a0003c0019 a0003c0038 a0003c0039 a0003c0040 a0008c0010 a0009c0011 a0012c0023 a0013c0021 a0015c0026 a0017c0033 a0018c0034	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0013t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0002 a0001c0032t0001 a0001c0036t0002 a0001c0037t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0015t0001 a0002c0016t0001 a0002c0017t0002 a0002c0022t0001 a0002c0024t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0019t0003 a0003c0038t0004 a0003c0039t0002 a0003c0040t0003 a0008c0010t0001 a0009c0011t0001 a0012c0023t0001 a0013c0021t0001 a0015c0026t0001 a0017c0033t0001 a0018c0034t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0002g0010 a0001c0009t0001g0015 a0001c0009t0001g0101 a0001c0013t0001g0039 a0001c0013t0001g0177 a0001c0029t0001g0121 a0001c0030t0001g0001 a0001c0031t0002g0010 a0001c0032t0001g0117 a0001c0036t0002g0010 a0001c0037t0001g0095 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0114 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0003t0001g0003 a0002c0003t0001g0011 a0002c0003t0001g0014 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0001g0029 a0002c0003t0001g0044 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0071 a0002c0003t0001g0074 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0139 a0002c0003t0001g0166 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0004g0067 a0002c0003t0005g0157 a0002c0003t0005g0158 a0002c0003t0005g0159 a0002c0015t0001g0002 a0002c0016t0001g0026 a0002c0017t0002g0028 a0002c0022t0001g0148 a0002c0024t0001g0056 a0003c0004t0001g0009 a0003c0004t0001g0013 a0003c0004t0001g0047 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0160 a0003c0004t0001g0163 a0003c0004t0001g0187 a0003c0004t0002g0133 a0003c0004t0002g0137 a0003c0004t0003g0021 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0004t0003g0049 a0003c0004t0003g0185 a0003c0004t0003g0189 a0003c0004t0003g0191 a0003c0004t0003g0192 a0003c0004t0003g0193 a0003c0004t0003g0194 a0003c0004t0003g0204 a0003c0004t0003g0205 a0003c0004t0003g0208 a0003c0004t0004g0013 a0003c0004t0004g0183 a0003c0004t0004g0186 a0003c0004t0004g0188 a0003c0004t0004g0195 a0003c0019t0003g0048 a0003c0038t0004g0009 a0003c0039t0002g0134 a0003c0040t0003g0190 a0008c0010t0001g0012 a0009c0011t0001g0003 a0009c0011t0001g0054 a0012c0023t0001g0115 a0013c0021t0001g0050 a0015c0026t0001g0058 a0017c0033t0001g0122 a0018c0034t0001g0110	340	418	0.8134	-6	c.109 others(20): Show c.1097+6_1097+11delGGTGTG		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	10/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88714227	G G	GGTGT GGTGT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp1 HG01081.hp2 others(22): Show HG00140.hp1 HG00323.hp1 HG01081.hp2 HG01106.hp2 HG01261.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0005 a0006 a0010 others(2): Show a0005 a0006 a0010 a0016 a0019	a0005c0006 a0006c0007 a0010c0018 others(2): Show a0005c0006 a0006c0007 a0010c0018 a0016c0028 a0019c0035	a0005c0006t0001 a0006c0007t0002 a0010c0018t0001 others(2): Show a0005c0006t0001 a0006c0007t0002 a0010c0018t0001 a0016c0028t0002 a0019c0035t0002	a0005c0006t0001g0006 a0005c0006t0001g0019 a0005c0006t0001g0053 others(12): Show a0005c0006t0001g0006 a0005c0006t0001g0019 a0005c0006t0001g0053 a0005c0006t0001g0161 a0005c0006t0001g0162 a0005c0006t0001g0164 a0006c0007t0002g0037 a0006c0007t0002g0169 a0006c0007t0002g0171 a0006c0007t0002g0173 a0006c0007t0002g0174 a0010c0018t0001g0175 a0010c0018t0001g0176 a0016c0028t0002g0168 a0019c0035t0002g0167	25	418	0.0598	4	c.109 others(17): Show c.1097+2_1097+5dupTGTG		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	10/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88714229	TGTGGGTG others(20): Show TGTGGGTGTGTGTGGGTGTGTGCGGGGG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02258.hp1 HG03453.hp1 others(1): Show HG01891.hp2 HG02258.hp1 HG03453.hp1 HG03453.hp2	a0005 a0011 a0005 a0011	a0005c0006 a0011c0014 a0005c0006 a0011c0014	a0005c0006t0001 a0011c0014t0001 a0005c0006t0001 a0011c0014t0001	a0005c0006t0001g0020 a0005c0006t0001g0165 a0011c0014t0001g0020 a0005c0006t0001g0020 a0005c0006t0001g0165 a0011c0014t0001g0020	4	418	0.0096	-27	c.109 others(41): Show c.1097+6_1097+32delGGTGTGTGTGGGTGTGTGCGGGGGGTG		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	10/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88715113	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	418	0.0024	0	c.147 others(6): Show c.1478+7G>A		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	14/14					chr16	TogoVar
CTXN3_chr5_127644082_127663630	127657416	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	472	0.0021	0	c.-99 others(5): Show c.-99-7C>T		CTXN3	ENSG00000205279.9	transcript	ENST00000379445.8	protein_coding	2/2					chr5	TogoVar
CTXND2_chr1_150882136_150918292	150887321	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	372	0.0027	0	c.-74 others(5): Show c.-74+8A>G		CTXND2	ENSG00000283324.1	transcript	ENST00000636087.1	protein_coding	1/1					chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)