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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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	distance	status	chr	external
CHST14_chr15_40465984_40478158	40470922	CCCCGCCC others(10): Show CCCCGCCCCCGGCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	412	0.0024	-17	c.-29 others(26): Show c.-291_-275delCCCGCCCCCGGCGTGGG		CHST14	ENSG00000169105.8	transcript	ENST00000306243.7	protein_coding					61		chr15	TogoVar
CHST15_chr10_124002668_124098598	124009594	GTGAGGTT others(10): Show GTGAGGTTAGCGATCGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0232 a0001c0001t0020g0232	1	392	0.0026	-17	c.53 others(26): Show c.538_*554delTGCGATCGCTAACCTCA		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	8/8				538		chr10	TogoVar
CHST15_chr10_124002668_124098598	124043945	ACAGCACA others(10): Show ACAGCACAGAGCAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02015.hp1 HG02109.hp2 others(10): Show HG01175.hp2 HG02015.hp1 HG02109.hp2 HG02280.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0028 a0001c0003t0002 a0001c0003t0017 a0001c0003t0033 a0001c0003t0038 a0001c0012t0031	a0001c0001t0001g0245 a0001c0001t0003g0111 a0001c0001t0004g0236 others(10): Show a0001c0001t0001g0245 a0001c0001t0003g0111 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0244 a0001c0001t0006g0240 a0001c0001t0028g0238 a0001c0003t0002g0173 a0001c0003t0017g0115 a0001c0003t0017g0116 a0001c0003t0033g0117 a0001c0003t0038g0375 a0001c0012t0031g0100	13	392	0.0332	-17	c.886 others(32): Show c.886+618_886+634delCTCCCTGCTCTGTGCTG		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	3/7						chr10	TogoVar
CHST15_chr10_124002668_124098598	124044137	CCGGCACA others(10): Show CCGGCACAGAGCAGGAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	392	0.0051	-17	c.886 others(32): Show c.886+426_886+442delTTTCCTGCTCTGTGCCG		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	3/7						chr10	TogoVar
CHST15_chr10_124002668_124098598	124044219	AGGGAATA others(10): Show AGGGAATAGCACAGAGCT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	392	0.0026	-17	c.886 others(32): Show c.886+344_886+360delAGCTCTGTGCTATTCCC		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	3/7						chr10	TogoVar
CHST3_chr10_71959395_72018558	71997413	GTCACCTC others(10): Show GTCACCTCCCCCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 NA19030.hp2 HG03453.hp1 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0002c0002t0016 a0001c0001t0031 a0002c0002t0016	a0001c0001t0031g0043 a0001c0001t0031g0044 a0002c0002t0016g0042 a0001c0001t0031g0043 a0001c0001t0031g0044 a0002c0002t0016g0042	3	372	0.0081	-17	c.-10 others(36): Show c.-107-8320_-107-8304delACCTCCCCCTCTACCTC		CHST3	ENSG00000122863.6	transcript	ENST00000373115.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
CHST6_chr16_75467052_75500441	75480935	AAAAAAAA others(10): Show AAAAAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0220 a0001c0001t0064g0220	1	371	0.0027	-17	c.-17 others(32): Show c.-17+865_-17+881delCTTTTCTTTTTTTTTTT		CHST6	ENSG00000183196.10	transcript	ENST00000332272.9	protein_coding	2/2						chr16	TogoVar
CHST9_chr18_26901481_27190308	27068416	ACTTTTGT others(10): Show ACTTTTGTGTTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02622.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0084 a0001c0001t0029g0021 a0001c0001t0003g0084 a0001c0001t0029g0021	2	262	0.0076	-17	c.122 others(36): Show c.122-19930_122-19914delCACACATAACACAAAAG		CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5						chr18	TogoVar
CHSY3_chr5_129899465_130191634	129929467	GACATGGG others(10): Show GACATGGGCACACACATC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18939.hp2 NA18945.hp1 HG00408.hp2 NA18939.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0022 a0001c0008t0001g0033 a0001c0008t0001g0034 a0001c0002t0001g0022 a0001c0008t0001g0033 a0001c0008t0001g0034	3	276	0.0109	-17	c.108 others(38): Show c.1086+21111_1086+21127delTGGGCACACACATCACA		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020440	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0154 a0002c0005t0001g0014 a0001c0001t0002g0154 a0002c0005t0001g0014	2	276	0.0073	-17	c.108 others(40): Show c.1086+112081_1086+112097delATATATATATATATATA		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2						chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020442	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0244 a0002c0007t0008g0244	1	276	0.0036	-17	c.108 others(40): Show c.1086+112083_1086+112099delATATATATATATATATA		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2						chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020444	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0256 a0001c0001t0006g0256	1	276	0.0036	-17	c.108 others(40): Show c.1086+112085_1086+112101delATATATATATATATATA		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2						chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020447	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19062.hp1 HG02132.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0205 a0001c0001t0002g0169 a0001c0001t0002g0205	2	276	0.0073	-17	c.108 others(40): Show c.1086+112089_1086+112105delATATATATATATATTTT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020449	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	276	0.0036	-17	c.108 others(40): Show c.1086+112091_1086+112107delATATATATATATTTTTT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CIDEC_chr3_9861714_9885253	9883168	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp2 others(10): Show HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG02486.hp1 HG03704.hp2 HG04199.hp1 NA18983.hp2 NA19043.hp2 NA19072.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0119 a0001c0003t0001g0120 others(9): Show a0001c0003t0001g0008 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0129 a0001c0003t0001g0144 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151	13	410	0.0317	-17	c.-31 others(28): Show c.-3100_-3084delAAAAAAAAAAAAAAAAA		CIDEC	ENSG00000187288.12	transcript	ENST00000336832.7	protein_coding					2916		chr3	TogoVar
CISD2_chr4_102863992_102897807	102879900	ATAAGGTC others(10): Show ATAAGGTCCCTGCCCTTG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0058 a0001c0001t0010g0058	1	354	0.0028	-17	c.104 others(34): Show c.104-5313_104-5297delAGGTCCCTGCCCTTGTA		CISD2	ENSG00000145354.12	transcript	ENST00000273986.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
CISH_chr3_50601489_50616774	50602096	ACACACAC others(10): Show ACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-17	c.54 others(28): Show c.5494_*5510delGTGTGTGTGTGTGTGTG		CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding					4392		chr3	TogoVar
CKAP4_chr12_106232881_106253020	106241021	AGGTTGCC others(10): Show AGGTTGCCTTGAGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02145.hp1 others(7): Show HG01109.hp2 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0005g0136	10	418	0.0239	-17	c.484 others(32): Show c.484-689_484-673delCTGGGCTCAAGGCAACC		CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding	1/1						chr12	TogoVar
CLASP1_chr2_121332776_121654462	121555988	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0004 a0001c0002t0050g0004	1	214	0.0047	-17	c.196 others(36): Show c.196-25680_196-25664delAAAAAAAAAAAAAAAAA		CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40						chr2	TogoVar
CLASP2_chr3_33491245_33723254	33715847	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	278	0.0036	-17	c.195 others(34): Show c.195+1944_195+1960delTTTTTTTTTTTTTTTTT		CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38						chr3	TogoVar
CLCN1_chr7_143311111_143357083	143352961	CTGCTCTA others(10): Show CTGCTCTAGCCAGGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	414	0.0024	-17	c.99 others(27): Show c.997_*1013delTGCTCTAGCCAGGGCCT		CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding					879		chr7	TogoVar
CLCN4_chrX_10151975_10242660	10178038	ATACTGCA others(10): Show ATACTGCATGATTCCACT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19076.hp1 HG01928.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0003g0020 a0001c0001t0001g0024 a0001c0001t0003g0020	2	264	0.0076	-17	c.-11 others(34): Show c.-11-6964_-11-6948delCTGCATGATTCCACTTA		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10239513	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	264	0.0038	-17	c.59 others(28): Show c.5930_*5946delTTTTTTTTTTTTTTTTT		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding					1854		chrX	TogoVar
CLCN5_chrX_49917596_50104230	49966603	TTTTTTTT others(10): Show TTTTTTTTTATTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01515.hp1 others(1): Show HG00140.hp1 HG01074.hp1 HG01515.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0083	4	175	0.0229	-17	c.16+ others(34): Show c.16+41301_16+41317delTTTTTATTTTTTTTATT		CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN5_chrX_49917596_50104230	50077812	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	175	0.0057	-17	c.603 others(34): Show c.603+1851_603+1867delAAAAAAAAAAAAAAAAA		CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	7/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
CLDN16_chr3_190383163_190417138	190411501	TACCTGAA others(10): Show TACCTGAAAAGAATATCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02109.hp1 others(2): Show HG00639.hp2 HG01891.hp1 HG02109.hp1 HG02257.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0163 a0001c0001t0007g0011 a0001c0001t0007g0163	5	438	0.0114	-17	c.14 others(28): Show c.1485_*1501delCTGAAAAGAATATCAAC		CLDN16	ENSG00000113946.4	transcript	ENST00000264734.3	protein_coding	5/5				1485	INFO_REALIGN_3_PRIME	chr3	TogoVar
CLDN34_chrX_9962358_9973352	9969237	CCTTCATC others(10): Show CCTTCATCCCCATATACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	330	0.0030	-17	c.12 others(28): Show c.1236_*1252delCTTCATCCCCATATACT		CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding					886		chrX	TogoVar
CLDN4_chr7_73825996_73837690	73831717	CCTGCTGC others(10): Show CCTGCTGCTCCTTGGCGG	C C	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG01109.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0002 a0000c0005t0002	a0000c0005t0002g0000 a0000c0005t0002g0000	1	372	0.0027	-17	c.517 others(24): Show c.517_533delCTGCTGCTCCTTGGCGG	p.Leu others(5): Show p.Leu173fs	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding	1/1	723/1695	517/630	173/209			chr7	TogoVar
CLDN4_chr7_73825996_73837690	73834159	CAATTTTT others(10): Show CAATTTTTTTTTTTTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-17	c.23 others(28): Show c.2329_*2345delAATTTTTTTTTTTTTTG		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					1470		chr7	TogoVar
CLDN4_chr7_73825996_73837690	73835206	CCCTCTCC others(10): Show CCCTCTCCCTCTCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-17	c.33 others(28): Show c.3376_*3392delCCTCTCCCTCTCCCTCT		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					2517		chr7	TogoVar
CLEC10A_chr17_7069537_7085251	7070533	AAAGGAAA others(10): Show AAAGGAAAGGAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0126 a0001c0011t0002g0126	1	458	0.0022	-17	c.45 others(28): Show c.4504_*4520delCTTTTCTTCCTTTCCTT		CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding					4003		chr17	TogoVar
CLEC10A_chr17_7069537_7085251	7070591	AAAAGAAA others(10): Show AAAAGAAAGAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02922.hp1 HG01981.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0007 a0002c0001t0001g0001 a0001c0002t0001g0007 a0002c0001t0001g0001	2	458	0.0044	-17	c.44 others(28): Show c.4446_*4462delCTTTCTTTTCTTTCTTT		CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding					3945		chr17	TogoVar
CLEC12A_chr12_9966409_9990595	9983639	TCAACTGT others(10): Show TCAACTGTGTTGAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02897.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0034 a0001c0001t0001g0076	3	440	0.0068	-17	c.642 others(34): Show c.642-1228_642-1212delACTGTGTTGAGGTGCCA		CLEC12A	ENSG00000172322.14	transcript	ENST00000304361.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
CLEC16A_chr16_10939564_11187186	11077963	ACGTGTGT others(10): Show ACGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	274	0.0037	-17	c.211 others(38): Show c.2116+16942_2116+16958delCGTGTGTGTGTGTGTGT		CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23						chr16	TogoVar
CLEC1B_chr12_9988075_10004121	9993429	GTTGAGAA others(10): Show GTTGAGAAAGTTCCACCC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	462	0.0022	-17	c.546 others(32): Show c.546-159_546-143delGGGTGGAACTTTCTCAA		CLEC1B	ENSG00000165682.15	transcript	ENST00000298527.11	protein_coding	5/5						chr12	TogoVar
CLEC4C_chr12_7724383_7752375	7750836	ACAAACAA others(10): Show ACAAACAAACAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	448	0.0022	-17	c.-35 others(28): Show c.-3505_-3489delGTTTGTTTGTTTGTTTG		CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding					3462		chr12	TogoVar
CLEC4D_chr12_8508503_8527366	8510597	GTATGAAA others(10): Show GTATGAAAGAGAGACATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	402	0.0050	-17	c.-31 others(28): Show c.-3135_-3119delTATGAAAGAGAGACATT		CLEC4D	ENSG00000166527.8	transcript	ENST00000299665.3	protein_coding					2905		chr12	TogoVar
CLEC4D_chr12_8508503_8527366	8510987	ATACTTTA others(10): Show ATACTTTAAGTTCTAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	402	0.0025	-17	c.-27 others(28): Show c.-2745_-2729delTACTTTAAGTTCTAGGG		CLEC4D	ENSG00000166527.8	transcript	ENST00000299665.3	protein_coding					2515		chr12	TogoVar
CLHC1_chr2_55167547_55237293	55217551	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0006 a0001c0004t0006g0006	2	404	0.0050	-17	c.365 others(32): Show c.365+243_365+259delATATATATATATATATT		CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	4/12						chr2	TogoVar
CLIC1_chr6_31725599_31741530	31739970	GTGCGCGC others(10): Show GTGCGCGCGCACCTCGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	395	0.0025	-17	c.-36 others(28): Show c.-3687_-3671delAGCGAGGTGCGCGCGCA		CLIC1	ENSG00000213719.8	transcript	ENST00000375784.8	protein_coding					3441		chr6	TogoVar
CLIC3_chr9_136989608_137001568	137001013	TGACCTCG others(10): Show TGACCTCGGGGGCGGCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(276): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0008 a0004c0004 others(2): Show a0001c0001 a0001c0008 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0008t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0008t0001g0012 a0004c0004t0001g0006 a0005c0005t0001g0008 a0006c0006t0001g0007	279	398	0.7010	-17	c.-44 others(28): Show c.-4487_-4471delTCGCCGCCCCCGAGGTC		CLIC3	ENSG00000169583.13	transcript	ENST00000494426.2	protein_coding					4446		chr9	TogoVar
CLIC3_chr9_136989608_137001568	137001030	AGACCTCG others(10): Show AGACCTCGGGGGCGGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	-17	c.-45 others(28): Show c.-4504_-4488delCCGCCGCCCCCGAGGTC		CLIC3	ENSG00000169583.13	transcript	ENST00000494426.2	protein_coding					4463		chr9	TogoVar
CLIC4_chr1_24740447_24849321	24766473	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02559.hp2 HG01106.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0004 a0001c0001t0015g0110 a0001c0001t0014g0004 a0001c0001t0015g0110	2	344	0.0058	-17	c.72+ others(34): Show c.72+20880_72+20896delTTTTTTTTTTTTTTTTT		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24800223	TCAGCCCC others(10): Show TCAGCCCCCCCACCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0220 a0001c0001t0002g0184 a0001c0001t0002g0220	2	344	0.0058	-17	c.182 others(34): Show c.182+2378_182+2394delCCCCCACCTGGCCAGCC		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC6_chr21_34663994_34723223	34665288	TTGGGAGG others(10): Show TTGGGAGGCCAAAGCAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0061 a0002c0002t0061	a0002c0002t0061g0218 a0002c0002t0061g0218	1	312	0.0032	-17	c.-41 others(28): Show c.-4100_-4084delTGGGAGGCCAAAGCAGG		CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding					3705		chr21	TogoVar
CLIP1_chr12_122266469_122427669	122341762	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 HG02145.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0233 a0001c0005t0017g0234 a0001c0005t0017g0233 a0001c0005t0017g0234	2	234	0.0086	-17	c.150 others(32): Show c.1507-82_1507-66delAAAAAAAAAAAAAAAAA		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	10/25						chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387569	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG02280.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0217 a0001c0001t0001g0218	2	234	0.0086	-17	c.-10 others(36): Show c.-106-7028_-106-7012delTATATATATATATATAT		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25						chr12	TogoVar
CLIP2_chr7_74284407_74410935	74390164	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03831.hp2 HG02717.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0007 a0001c0002t0001 a0001c0007t0007	a0001c0002t0001g0091 a0001c0007t0007g0013 a0001c0002t0001g0091 a0001c0007t0007g0013	2	278	0.0072	-17	c.272 others(34): Show c.2720+906_2720+922delGAAAGAAAGAAAGAAAG		CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	13/16						chr7	TogoVar
CLIP3_chr19_36009660_36037873	36031008	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01109.hp1 others(32): Show HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2 HG03710.hp1 HG04228.hp2 HG06807.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0004t0003	a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0022 others(24): Show a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0011g0062 a0001c0004t0003g0068	35	416	0.0841	-17	c.166 others(34): Show c.166+1167_166+1183delAAGAAAAAAAAAAAAAA		CLIP3	ENSG00000105270.15	transcript	ENST00000360535.9	protein_coding	2/13						chr19	TogoVar
CLN5_chr13_76987081_77010117	76990595	TCTACTGT others(10): Show TCTACTGTGGCCCTCATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01346.hp2 HG01928.hp1 others(30): Show HG00099.hp2 HG01346.hp2 HG01928.hp1 HG02015.hp1 HG02056.hp1 HG02132.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0017 a0002c0003t0034 others(1): Show a0002c0003t0003 a0002c0003t0017 a0002c0003t0034 a0002c0003t0035	a0002c0003t0003g0004 a0002c0003t0003g0014 a0002c0003t0003g0036 others(4): Show a0002c0003t0003g0004 a0002c0003t0003g0014 a0002c0003t0003g0036 a0002c0003t0003g0038 a0002c0003t0017g0004 a0002c0003t0034g0014 a0002c0003t0035g0004	33	430	0.0767	-17	c.-15 others(28): Show c.-1503_-1487delCTACTGTGGCCCTCATA		CLN5	ENSG00000102805.16	transcript	ENST00000377453.9	protein_coding					1485		chr13	TogoVar

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Search Results (Total: 9132 hits)