Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CLSTN1_chr1_9723926_9828965	9773393	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0038 a0002c0010t0002g0038	1	270	0.0037	0	c.93T others(2): Show c.93T>C	p.Val others(5): Show p.Val31Val	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	2/19	325/4760	93/2946	31/981		chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140403621	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02145.hp2 HG03516.hp1 HG01884.hp2 HG02145.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0004 a0002c0005t0004 a0002c0002t0004 a0002c0005t0004	a0002c0002t0004g0107 a0002c0005t0004g0038 a0002c0005t0004g0077 a0002c0002t0004g0107 a0002c0005t0004g0038 a0002c0005t0004g0077	3	110	0.0273	0	c.233 others(5): Show c.233-8T>G		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16					chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140459514	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0022 a0001c0009t0022	a0001c0009t0022g0049 a0001c0009t0022g0049	1	110	0.0091	0	c.974 others(5): Show c.974-7T>A		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	6/16					chr3	TogoVar
CLSTN3_chr12_7125371_7163945	7135323	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp1 NA19078.hp2 NA18968.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0271 a0001c0001t0001g0272	2	394	0.0051	0	c.384 others(5): Show c.384-4G>T		CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	3/17					chr12	TogoVar
CLSTN3_chr12_7125371_7163945	7142061	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(63): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG03017.hp2 HG03927.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18989.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0010c0012 a0011c0011 a0001c0001 a0010c0012 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0010c0012t0001 a0011c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0224 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0103 a0001c0001t0011g0100 a0010c0012t0001g0031 a0011c0011t0001g0113	66	394	0.1675	1	c.148 others(7): Show c.1487-9dupT		CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	9/17				INFO_REALIGN_3_PRIME	chr12	TogoVar
CLSTN3_chr12_7125371_7163945	7143157	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	394	0.0025	0	c.169 others(6): Show c.1699-6G>T		CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	11/17					chr12	TogoVar
CLTA_chr9_36185921_36217059	36198973	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG02280.hp1 HG02572.hp2 others(8): Show HG01074.hp1 HG02280.hp1 HG02572.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0004g0165	11	400	0.0275	0	c.256 others(5): Show c.256-6G>A		CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding	2/4					chr9	TogoVar
CLTB_chr5_176387501_176421539	176392950	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG01175.hp2 HG01243.hp1 others(16): Show HG00280.hp2 HG01175.hp2 HG01243.hp1 HG01891.hp2 HG01952.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0141 others(15): Show a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0005g0042 a0001c0002t0002g0046	19	406	0.0468	0	c.519 others(5): Show c.519-5C>T		CLTB	ENSG00000175416.16	transcript	ENST00000310418.9	protein_coding	5/5					chr5	TogoVar
CLTCL1_chr22_19174473_19296719	19187974	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0328 a0002c0001t0002g0328	1	346	0.0029	0	c.443 others(6): Show c.4434+7G>A		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	28/32					chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19196422	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0267 a0001c0004t0004g0267	1	346	0.0029	0	c.404 others(6): Show c.4042-7T>C		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	25/32					chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19196484	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18951.hp2 NA18985.hp2 NA18989.hp1 others(1): Show NA18951.hp2 NA18985.hp2 NA18989.hp1 NA19088.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0005 a0008c0010t0005	a0008c0010t0005g0009 a0008c0010t0005g0019 a0008c0010t0005g0020 others(1): Show a0008c0010t0005g0009 a0008c0010t0005g0019 a0008c0010t0005g0020 a0008c0010t0005g0021	4	346	0.0116	0	c.404 others(6): Show c.4041+5C>T		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	25/32					chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19210507	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG01261.hp1 HG01109.hp1 HG01261.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0139 a0011c0015t0001g0140 a0011c0015t0001g0139 a0011c0015t0001g0140	2	346	0.0058	0	c.306 others(4): Show c.3068A>T	p.Asn others(7): Show p.Asn1023Ile	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	20/33	3146/5518	3068/4923	1023/1640		chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19225445	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01257.hp1 HG01258.hp2 NA21309.hp2 HG01257.hp1 HG01258.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0009 a0001c0024t0009 a0001c0003t0009 a0001c0024t0009	a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0024t0009g0031 a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0024t0009g0031	3	346	0.0087	0	c.212 others(6): Show c.2128+8A>G		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	13/32					chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19232469	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18941.hp1 NA18983.hp1 NA18986.hp2 others(1): Show NA18941.hp1 NA18983.hp1 NA18986.hp2 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0010 a0002c0001t0002 a0002c0001t0010	a0002c0001t0002g0002 a0002c0001t0002g0219 a0002c0001t0010g0069 a0002c0001t0002g0002 a0002c0001t0002g0219 a0002c0001t0010g0069	4	346	0.0116	0	c.164 others(6): Show c.1644+7G>A		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	10/32					chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19234711	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp2 NA18984.hp2 NA19065.hp2 NA18977.hp2 NA18984.hp2 NA19065.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0298 a0005c0007t0006g0301 a0005c0007t0006g0309 a0005c0007t0006g0298 a0005c0007t0006g0301 a0005c0007t0006g0309	3	346	0.0087	0	c.970 others(5): Show c.970-5T>C		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	6/32					chr22	TogoVar
CLTC_chr17_59614895_59701956	59683018	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02572.hp1 HG02647.hp1 others(15): Show HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0004g0058 a0001c0001t0006g0056 a0001c0001t0006g0059 others(15): Show a0001c0001t0004g0058 a0001c0001t0006g0056 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0057 a0001c0001t0007g0230	18	260	0.0692	0	c.387 others(6): Show c.3873+4T>C		CLTC	ENSG00000141367.13	transcript	ENST00000269122.8	protein_coding	24/31					chr17	TogoVar
CLTC_chr17_59614895_59701956	59683089	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03225.hp1 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0025 a0001c0001t0003g0027	2	260	0.0077	0	c.387 others(6): Show c.3874-6G>A		CLTC	ENSG00000141367.13	transcript	ENST00000269122.8	protein_coding	24/31					chr17	TogoVar
CLUAP1_chr16_3496004_3544048	3508283	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG02027.hp1 HG02027.hp2 others(26): Show HG00558.hp2 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA18951.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA19010.hp1 NA19070.hp2 NA19074.hp2 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0004 a0005c0006 a0006c0007 others(1): Show a0001c0004 a0005c0006 a0006c0007 a0008c0009	a0001c0004t0007 a0001c0004t0008 a0001c0004t0009 others(7): Show a0001c0004t0007 a0001c0004t0008 a0001c0004t0009 a0001c0004t0011 a0001c0004t0022 a0005c0006t0007 a0005c0006t0013 a0006c0007t0014 a0006c0007t0015 a0008c0009t0021	a0001c0004t0007g0007 a0001c0004t0007g0011 a0001c0004t0008g0077 others(19): Show a0001c0004t0007g0007 a0001c0004t0007g0011 a0001c0004t0008g0077 a0001c0004t0009g0004 a0001c0004t0009g0033 a0001c0004t0009g0036 a0001c0004t0011g0032 a0001c0004t0011g0034 a0001c0004t0011g0037 a0001c0004t0011g0038 a0001c0004t0011g0039 a0001c0004t0022g0035 a0005c0006t0007g0051 a0005c0006t0007g0052 a0005c0006t0007g0053 a0005c0006t0013g0048 a0005c0006t0013g0049 a0005c0006t0013g0050 a0006c0007t0014g0010 a0006c0007t0015g0041 a0006c0007t0015g0042 a0008c0009t0021g0040	29	382	0.0759	0	c.220 others(5): Show c.220-6A>T		CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	3/11					chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3512380	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG03209.hp2 HG02451.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0032 a0001c0001t0012 a0001c0001t0032	a0001c0001t0012g0329 a0001c0001t0032g0328 a0001c0001t0012g0329 a0001c0001t0032g0328	2	382	0.0052	0	c.400 others(5): Show c.400-3C>T		CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	4/11					chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3530565	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00558.hp2 HG00741.hp1 others(33): Show HG00140.hp2 HG00558.hp2 HG00741.hp1 HG01070.hp1 HG01346.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA18951.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA19010.hp1 NA19070.hp2 NA19074.hp2 NA20805.hp1 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0001c0004 a0005c0006 others(2): Show a0001c0001 a0001c0004 a0005c0006 a0006c0007 a0008c0009	a0001c0001t0008 a0001c0004t0007 a0001c0004t0008 others(8): Show a0001c0001t0008 a0001c0004t0007 a0001c0004t0008 a0001c0004t0009 a0001c0004t0011 a0001c0004t0022 a0005c0006t0007 a0005c0006t0013 a0006c0007t0014 a0006c0007t0015 a0008c0009t0021	a0001c0001t0008g0021 a0001c0001t0008g0146 a0001c0001t0008g0151 others(25): Show a0001c0001t0008g0021 a0001c0001t0008g0146 a0001c0001t0008g0151 a0001c0001t0008g0152 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0004t0007g0007 a0001c0004t0007g0011 a0001c0004t0008g0077 a0001c0004t0009g0004 a0001c0004t0009g0033 a0001c0004t0009g0036 a0001c0004t0011g0032 a0001c0004t0011g0034 a0001c0004t0011g0037 a0001c0004t0011g0038 a0001c0004t0011g0039 a0001c0004t0022g0035 a0005c0006t0007g0051 a0005c0006t0007g0052 a0005c0006t0007g0053 a0005c0006t0013g0048 a0005c0006t0013g0049 a0005c0006t0013g0050 a0006c0007t0014g0010 a0006c0007t0015g0041 a0006c0007t0015g0042 a0008c0009t0021g0040	36	382	0.0942	0	c.929 others(5): Show c.929-3T>C		CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11					chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3532841	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0055 a0001c0014t0001g0055	1	382	0.0026	0	c.109 others(4): Show c.1092T>C	p.Asn others(6): Show p.Asn364Asn	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	11/12	1156/4083	1092/1242	364/413		chr16	TogoVar
CLUH_chr17_2684387_2716764	2691601	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0266 a0001c0028t0001g0266	1	420	0.0024	0	c.386 others(6): Show c.3863+8C>T		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	25/25					chr17	TogoVar
CLUH_chr17_2684387_2716764	2691997	C C	CCCGCCCC others(51): Show CCCGCCCCCGCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCC GCCCCCGCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	3	420	0.0071	58	c.365 others(71): Show c.3654+6_3654+7insAGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGG CGGGGGCGGGGGCGGGGCGGGGGCGG		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25					chr17	TogoVar
CLUH_chr17_2684387_2716764	2691997	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(187): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0015 a0016 a0017 a0019	a0001c0001 a0001c0003 a0001c0004 others(20): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0032 a0001c0034 a0001c0038 a0001c0040 a0002c0002 a0002c0008 a0003c0006 a0004c0009 a0005c0042 a0007c0027 a0008c0031 a0011c0033 a0015c0023 a0016c0037 a0017c0039 a0019c0041	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0007t0002 a0001c0007t0003 a0001c0010t0003 a0001c0011t0001 a0001c0032t0001 a0001c0034t0002 a0001c0038t0001 a0001c0040t0003 a0002c0002t0001 a0002c0008t0001 a0002c0008t0003 a0003c0006t0001 a0004c0009t0001 a0005c0042t0003 a0007c0027t0001 a0008c0031t0004 a0011c0033t0001 a0015c0023t0001 a0016c0037t0001 a0017c0039t0001 a0019c0041t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(149): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0004g0030 a0001c0001t0004g0062 a0001c0001t0004g0163 a0001c0001t0004g0212 a0001c0003t0001g0132 a0001c0003t0001g0275 a0001c0003t0001g0298 a0001c0003t0001g0304 a0001c0004t0001g0041 a0001c0004t0002g0035 a0001c0005t0001g0029 a0001c0005t0001g0032 a0001c0005t0001g0033 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0160 a0001c0005t0001g0193 a0001c0005t0001g0199 a0001c0005t0001g0200 a0001c0005t0001g0217 a0001c0005t0001g0239 a0001c0005t0001g0240 a0001c0005t0001g0249 a0001c0005t0001g0250 a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0260 a0001c0005t0002g0040 a0001c0005t0002g0313 a0001c0005t0002g0314 a0001c0005t0002g0317 a0001c0005t0009g0028 a0001c0007t0002g0042 a0001c0007t0002g0328 a0001c0007t0002g0329 a0001c0007t0002g0331 a0001c0007t0002g0332 a0001c0007t0002g0333 a0001c0007t0003g0330 a0001c0010t0003g0320 a0001c0010t0003g0321 a0001c0010t0003g0322 a0001c0010t0003g0323 a0001c0011t0001g0281 a0001c0011t0001g0282 a0001c0032t0001g0043 a0001c0034t0002g0316 a0001c0038t0001g0148 a0001c0040t0003g0324 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0318 a0002c0008t0001g0086 a0002c0008t0003g0047 a0003c0006t0001g0010 a0003c0006t0001g0072 a0003c0006t0001g0120 a0004c0009t0001g0151 a0004c0009t0001g0152 a0004c0009t0001g0153 a0004c0009t0001g0154 a0004c0009t0001g0186 a0005c0042t0003g0203 a0007c0027t0001g0123 a0008c0031t0004g0208 a0011c0033t0001g0315 a0015c0023t0001g0118 a0016c0037t0001g0259 a0017c0039t0001g0247 a0019c0041t0001g0253	190	420	0.4524	0	c.365 others(6): Show c.3654+7G>A		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25					chr17	TogoVar
CLUH_chr17_2684387_2716764	2695105	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0283 a0001c0003t0001g0283	1	420	0.0024	0	c.260 others(6): Show c.2608-4G>A		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	15/25					chr17	TogoVar
CLUL1_chr18_591988_655182	649879	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01258.hp1 HG01515.hp2 others(20): Show HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02109.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp2 HG03927.hp2 NA18986.hp2 NA19075.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0006 a0001c0001 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0005t0001 a0003c0006t0002 a0003c0006t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0080 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0295 a0001c0001t0002g0006 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0119 a0001c0001t0003g0340 a0001c0001t0004g0312 a0001c0001t0006g0121 a0002c0005t0001g0048 a0002c0005t0001g0125 a0003c0006t0002g0127 a0003c0006t0004g0317	23	414	0.0556	-1	c.139 others(7): Show c.1398-4delT		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27598453	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0123 a0009c0013t0002g0123	1	458	0.0022	0	c.134 others(6): Show c.1340+7A>T		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/8					chr8	TogoVar
CLU_chr8_27591917_27619700	27598454	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0123 a0009c0013t0002g0123	1	458	0.0022	0	c.134 others(6): Show c.1340+6C>G		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/8					chr8	TogoVar
CLU_chr8_27591917_27619700	27598455	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0123 a0009c0013t0002g0123	1	458	0.0022	0	c.134 others(6): Show c.1340+5G>T		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/8					chr8	TogoVar
CLU_chr8_27591917_27619700	27598456	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0123 a0009c0013t0002g0123	1	458	0.0022	0	c.134 others(6): Show c.1340+4A>G		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/8					chr8	TogoVar
CLU_chr8_27591917_27619700	27598460	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0123 a0009c0013t0002g0123	1	458	0.0022	0	c.134 others(4): Show c.1340G>C	p.Arg others(6): Show p.Arg447Pro	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/9	1415/2749	1340/1350	447/449		chr8	TogoVar
CLU_chr8_27591917_27619700	27598461	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19090.hp1 NA19090.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0117 a0010c0014t0002g0117	1	458	0.0022	0	c.133 others(4): Show c.1339C>T	p.Arg others(6): Show p.Arg447Trp	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/9	1414/2749	1339/1350	447/449		chr8	TogoVar
CLU_chr8_27591917_27619700	27598461	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0123 a0009c0013t0002g0123	1	458	0.0022	0	c.133 others(4): Show c.1339C>G	p.Arg others(6): Show p.Arg447Gly	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	8/9	1414/2749	1339/1350	447/449		chr8	TogoVar
CLU_chr8_27591917_27619700	27610467	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00733.hp1 HG01243.hp1 others(19): Show HG00639.hp2 HG00733.hp1 HG01243.hp1 HG01891.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0006 a0001c0001 a0001c0009 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0009t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0005 a0002c0006t0005	a0001c0001t0001g0007 a0001c0001t0001g0063 a0001c0001t0001g0196 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0063 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0003g0067 a0001c0009t0005g0062 a0002c0006t0005g0066	22	458	0.0480	0	c.97+ others(4): Show c.97+8G>A		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	2/8					chr8	TogoVar
CLU_chr8_27591917_27619700	27610468	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	458	0.0022	0	c.97+ others(4): Show c.97+7A>G		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding	2/8					chr8	TogoVar
CLVS2_chr6_122991235_123077925	123055798	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00140.hp2 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	2	336	0.0060	0	c.676 others(5): Show c.676-8A>G		CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	4/5					chr6	TogoVar
CLYBL_chr13_99601690_99897570	99772820	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG01433.hp1 HG02523.hp2 others(3): Show HG00673.hp2 HG01433.hp1 HG02523.hp2 HG03710.hp1 NA18967.hp2 NA18982.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0115 a0001c0001t0001g0174 a0001c0001t0001g0200 a0004c0004t0001g0130	6	218	0.0275	0	c.63- others(4): Show c.63-4G>T		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					chr13	TogoVar
CMA1_chr14_24500353_24513265	24506608	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00597.hp1 HG00738.hp2 others(52): Show HG00423.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01167.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02165.hp1 HG02486.hp2 HG02523.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03516.hp1 HG03688.hp2 HG03710.hp1 HG04204.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18965.hp1 NA18978.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0009 a0001c0001t0001g0002 a0001c0001t0003g0009	55	432	0.1273	0	c.210 others(5): Show c.210-4A>G		CMA1	ENSG00000092009.10	transcript	ENST00000250378.7	protein_coding	2/4					chr14	TogoVar
CMAS_chr12_22041218_22070668	22062260	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(122): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18950.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0002	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 others(95): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0217 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0225 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0051 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0003t0001g0185 a0001c0004t0002g0101	125	450	0.2778	-1	c.961 others(6): Show c.961-4delT		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	6/7				INFO_REALIGN_3_PRIME	chr12	TogoVar
CMAS_chr12_22041218_22070668	22062260	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(177): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0001c0001t0001 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 others(92): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0129 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0245 a0001c0001t0001g0276 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0211 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0003c0005t0001g0052	180	450	0.4000	-3	c.961 others(14): Show c.961-6_961-4delTTT		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	6/7				INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC2_chr16_80961448_81011885	80997308	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0164 a0002c0002t0062g0164	1	408	0.0025	0	c.81+ others(4): Show c.81+6A>C		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	2/3					chr16	TogoVar
CMIP_chr16_81439808_81716762	81696671	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02280.hp1 HG03130.hp2 others(1): Show HG02257.hp1 HG02280.hp1 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0007t0005 a0001c0001t0001 a0001c0001t0005 a0001c0007t0005	a0001c0001t0001g0205 a0001c0001t0005g0161 a0001c0001t0005g0169 others(1): Show a0001c0001t0001g0205 a0001c0001t0005g0161 a0001c0001t0005g0169 a0001c0007t0005g0190	4	268	0.0149	0	c.163 others(6): Show c.1638+4C>A		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	14/20					chr16	TogoVar
CMIP_chr16_81439808_81716762	81704090	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01109.hp2 HG02027.hp1 others(21): Show HG00621.hp1 HG01109.hp2 HG02027.hp1 HG02071.hp1 HG02132.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02717.hp2 HG03098.hp2 HG03654.hp1 HG03704.hp2 NA18612.hp2 NA18945.hp1 NA18950.hp2 NA18960.hp1 NA18964.hp1 NA18973.hp1 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA19011.hp1 NA19057.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0046	a0001c0001t0001g0004 a0001c0001t0001g0247 a0001c0001t0002g0228 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0247 a0001c0001t0002g0228 a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0005g0023 a0001c0001t0005g0036 a0001c0001t0005g0043 a0001c0001t0005g0052 a0001c0001t0005g0054 a0001c0001t0006g0104 a0001c0001t0007g0226 a0001c0001t0007g0229 a0001c0001t0007g0246 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0014g0128 a0001c0001t0014g0267 a0001c0001t0018g0080 a0001c0001t0021g0157 a0001c0001t0022g0181 a0001c0001t0036g0224 a0001c0001t0046g0180	24	268	0.0896	0	c.209 others(6): Show c.2091+5G>A		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					chr16	TogoVar
CMIP_chr16_81439808_81716762	81704090	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	268	0.0037	0	c.209 others(6): Show c.2091+5G>C		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					chr16	TogoVar
CMPK1_chr1_47328790_47383839	47372955	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01346.hp1 HG01934.hp1 HG02148.hp1 HG01346.hp1 HG01934.hp1 HG02148.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0143 a0004c0005t0002g0189 a0004c0005t0002g0192 a0004c0005t0002g0143 a0004c0005t0002g0189 a0004c0005t0002g0192	3	364	0.0082	0	c.319 others(3): Show c.319G>A	p.Glu others(6): Show p.Glu107Lys	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	3/6	475/2937	319/687	107/228		chr1	TogoVar
CMPK1_chr1_47328790_47383839	47376696	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	364	0.0028	0	c.646 others(5): Show c.646-8C>T		CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	5/5					chr1	TogoVar
CMSS1_chr3_99812862_100186732	100166392	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0231 a0003c0003t0001g0231	1	232	0.0043	0	c.413 others(3): Show c.413A>G	p.Glu others(6): Show p.Glu138Gly	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	5/10	531/4302	413/840	138/279		chr3	TogoVar
CMTM3_chr16_66599704_66618887	66609875	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	426	0.0024	0	c.400 others(5): Show c.400-8G>A		CMTM3	ENSG00000140931.20	transcript	ENST00000567572.6	protein_coding	3/4					chr16	TogoVar
CMTM4_chr16_66609750_66701743	66636405	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0134 a0001c0004t0003g0134	1	320	0.0031	0	c.363 others(3): Show c.363A>C	p.Thr others(6): Show p.Thr121Thr	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/4	581/8153	363/627	121/208		chr16	TogoVar
CMTM5_chr14_23372046_23384772	23378351	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02055.hp1 HG02615.hp1 HG02622.hp2 HG02055.hp1 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0010 a0001c0004t0001g0006 a0001c0004t0001g0010	3	422	0.0071	0	c.129 others(3): Show c.129C>T	p.Ala others(5): Show p.Ala43Ala	CMTM5	ENSG00000166091.21	transcript	ENST00000339180.9	protein_coding	2/6	335/1163	129/672	43/223		chr14	TogoVar

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