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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHST15_chr10_124002668_124098598	124092067	CACGGCTC others(17): Show CACGGCTCTTCATTCATTTTCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02083.hp1 HG02135.hp1 others(4): Show HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 NA18956.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0002g0031 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035	7	392	0.0179	-24	c.-51 others(43): Show c.-513+1378_-513+1401delTTGGGAAAATGAATGAAGAGCCGT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	1/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33618400	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCTTCCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG02258.hp2 others(7): Show HG01975.hp1 HG01975.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG02809.hp2 HG03225.hp1 NA18990.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0031 a0001c0001t0001g0146 a0001c0001t0001g0200 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0146 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0002g0036 a0001c0001t0002g0060 a0001c0001t0003g0216 a0001c0001t0011g0004	10	254	0.0394	-24	c.-40 others(35): Show c.-4059_-4036delTCTTCTTCTTCTTCTTCTTCCTCG	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3552		chr19	TogoVar
CHST8_chr19_33616953_33778506	33618424	GTCTTCTT others(17): Show GTCTTCTTCTTCTTCTTCTTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	254	0.0039	-24	c.-40 others(35): Show c.-4035_-4012delTCTTCTTCTTCTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3528		chr19	TogoVar
CHST8_chr19_33616953_33778506	33650501	CTTTTTCT others(17): Show CTTTTTCTTTTTCTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 HG03688.hp2 others(1): Show HG03130.hp2 HG03209.hp1 HG03688.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0127 a0001c0001t0001g0155	4	254	0.0158	-24	c.-16 others(45): Show c.-163-17260_-163-17237delCTTTTTCTTTTCTTTTTTTTTTTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33694169	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	254	0.0039	-24	c.130 others(41): Show c.130+4806_130+4829delTATATATATATATATATATATATA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0014 a0001c0001t0001g0142	2	254	0.0079	-24	c.131 others(43): Show c.131-13913_131-13890delAAGAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	26975725	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	262	0.0038	-24	c.203 others(43): Show c.203-31383_203-31360delTATATATATATATATATATATATA	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27137304	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG03130.hp2 others(4): Show HG02451.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0035 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0035 a0001c0001t0039 a0001c0001t0082	a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0008g0014 others(4): Show a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0035g0012 a0001c0001t0039g0085 a0001c0001t0082g0215	7	262	0.0267	-24	c.121 others(41): Show c.121+5361_121+5384delCACACACACACACACACACACACA	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY3_chr5_129899465_130191634	130020439	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG03139.hp1 HG02145.hp2 HG02809.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0006 a0003c0012t0003 a0001c0001t0006 a0003c0012t0003	a0001c0001t0006g0247 a0001c0001t0006g0253 a0003c0012t0003g0118 a0001c0001t0006g0247 a0001c0001t0006g0253 a0003c0012t0003g0118	3	276	0.0109	-24	c.108 others(47): Show c.1086+112081_1086+112104delATATATATATATATATATATAT TT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020441	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0003 a0003c0012t0003	a0003c0012t0003g0119 a0003c0012t0003g0119	1	276	0.0036	-24	c.108 others(47): Show c.1086+112083_1086+112106delATATATATATATATATATATTT TT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143808	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0070 a0002c0005t0001g0070	1	276	0.0036	-24	c.108 others(45): Show c.1087-40419_1087-40396delGTATATATATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIB4_chr2_26576205_26646366	26589036	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02148.hp2 HG00735.hp1 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0292 a0002c0002t0002g0215 a0001c0001t0001g0292 a0002c0002t0002g0215	2	344	0.0058	-24	c.329 others(41): Show c.329-5162_329-5139delGGAAGAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589042	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01109.hp2 others(2): Show HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0264 a0001c0001t0001g0276 a0002c0002t0002g0057 others(2): Show a0001c0001t0001g0264 a0001c0001t0001g0276 a0002c0002t0002g0057 a0002c0002t0002g0199 a0002c0002t0002g0272	5	344	0.0145	-24	c.329 others(41): Show c.329-5168_329-5145delGGAAGAGGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589066	CTCTTCCT others(17): Show CTCTTCCTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp1 HG02976.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0152 a0002c0002t0003g0153	2	344	0.0058	-24	c.329 others(41): Show c.329-5192_329-5169delAGAAGAAGAAGAAGAAGAGGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589084	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG02280.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0318 a0002c0002t0001g0319	2	344	0.0058	-24	c.329 others(41): Show c.329-5210_329-5187delGGAAGAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIP2A_chr3_108544864_108594438	108575320	GTACACAC others(17): Show GTACACACACGTGTATATATACATA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	372	0.0027	-24	c.894 others(39): Show c.894+927_894+950delTATGTATATATACACGTGTGTGTA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CISH_chr3_50601489_50616774	50602050	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0014 a0001c0006t0009g0014	1	360	0.0028	-24	c.55 others(35): Show c.5533_*5556delTGTGTGTGTGTGTGTGTGTGCGCG	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		4438		chr3	TogoVar
CITED4_chr1_40856054_40867363	40862358	CTCCGCGT others(17): Show CTCCGCGTCGCGTAGCTGGGCTCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0000 a0001c0001t0012g0000	1	440	0.0023	-24	c.-25 others(33): Show c.-255_-232delCCGAGCCCAGCTACGCGACGCGGA	CITED4	ENSG00000179862.7	transcript	ENST00000372638.4	protein_coding	1/1	232		chr1	TogoVar
CIT_chr12_119680791_119882320	119709787	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18982.hp2 NA18971.hp1 NA18982.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0132 a0001c0006t0001g0136 a0001c0006t0001g0132 a0001c0006t0001g0136	2	236	0.0085	-24	c.507 others(41): Show c.5071+440_5071+463delACACACACACACACACACACACAC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	39/47			chr12	TogoVar
CKAP2_chr13_52450478_52481627	52455635	CGCGGTGG others(17): Show CGCGGTGGCGGTGGCGGTGGCGGTG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0049 a0001c0001t0002g0050	2	406	0.0049	-24	c.70+ others(35): Show c.70+26_70+49delTGGCGGTGGCGGTGGCGGTGGCGG	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLASP1_chr2_121332776_121654462	121478938	CCCACACA others(17): Show CCCACACACACACCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02109.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0030 a0001c0002t0015 a0001c0002t0030	a0001c0002t0015g0143 a0001c0002t0015g0144 a0001c0002t0030g0140 others(1): Show a0001c0002t0015g0143 a0001c0002t0015g0144 a0001c0002t0030g0140 a0001c0002t0030g0142	4	214	0.0187	-24	c.713 others(41): Show c.713-9002_713-8979delTGTGTGTGTGTGGTGTGTGTGTGG	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	8/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121500344	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0002 a0001c0001t0037g0002	1	214	0.0047	-24	c.712 others(41): Show c.712+2799_712+2822delCTTTCTTTCTTTCTTTCTTTCTTT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	8/40			chr2	TogoVar
CLCN3_chr4_169615578_169728673	169663133	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0022 a0001c0003t0004g0034 a0001c0003t0003g0022 a0001c0003t0004g0034	2	288	0.0069	-24	c.161 others(43): Show c.161-16904_161-16881delTGTGTATATATATGTGTGTGTGTG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN3_chr4_169615578_169728673	169678987	GCCGGGCG others(17): Show GCCGGGCGGAGGCGCCCCCCACCTC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20300.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0045 a0001c0001t0033 a0001c0001t0045	a0001c0001t0033g0279 a0001c0001t0045g0280 a0001c0001t0033g0279 a0001c0001t0045g0280	2	288	0.0069	-24	c.161 others(41): Show c.161-1060_161-1037delGGGCGGAGGCGCCCCCCACCTCCC	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN5_chrX_49917596_50104230	49922125	ATGGAGAA others(17): Show ATGGAGAAATAACCCTCGGGGTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0020 a0002c0005t0020	a0002c0005t0020g0001 a0002c0005t0020g0001	1	175	0.0057	-24	c.-87 others(33): Show c.-871_-848delTGGAGAAATAACCCTCGGGGTTAT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding		470		chrX	TogoVar
CLCNKA_chr1_16017036_16039050	16037991	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(15): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00673.hp2 HG02145.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2 NA18940.hp1 NA18947.hp1 NA18959.hp2 NA18961.hp2 NA19004.hp2 NA19010.hp1 NA19057.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0009 a0003c0003 others(1): Show a0001c0001 a0001c0009 a0003c0003 a0012c0016	a0001c0001t0001 a0001c0009t0001 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0009t0001 a0003c0003t0002 a0012c0016t0001	a0001c0001t0001g0010 a0001c0009t0001g0016 a0003c0003t0002g0002 others(1): Show a0001c0001t0001g0010 a0001c0009t0001g0016 a0003c0003t0002g0002 a0012c0016t0001g0022	18	392	0.0459	-24	c.43 others(35): Show c.4334_*4357delACACACACACACACACACACACAC	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding		3942		chr1	TogoVar
CLDN25_chr11_113774796_113785485	113778791	ACACACAC others(17): Show ACACACACACACGCACACACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	-24	c.-10 others(34): Show c.-1004_-981delCACACACACACGCACACACACACG	CLDN25	ENSG00000228607.3	transcript	ENST00000453129.3	protein_coding		1004		chr11	TogoVar
CLDN34_chrX_9962358_9973352	9964279	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01928.hp1 HG02109.hp2 others(8): Show HG01243.hp1 HG01928.hp1 HG02109.hp2 HG02451.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	11	330	0.0333	-24	c.-30 others(35): Show c.-3078_-3055delCCTTCCTTCCTTCCTTCCTTCCTT	CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding		3078		chrX	TogoVar
CLDN34_chrX_9962358_9973352	9970450	TTCCCTCC others(17): Show TTCCCTCCTTCCCTCCTTCTCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp1 others(8): Show HG01070.hp1 HG01071.hp2 HG01884.hp1 HG02622.hp1 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp1 NA19030.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0005 a0002c0004 a0003c0005	a0002c0004t0002 a0003c0005t0002 a0002c0004t0002 a0003c0005t0002	a0002c0004t0002g0000 a0003c0005t0002g0000 a0002c0004t0002g0000 a0003c0005t0002g0000	11	330	0.0333	-24	c.24 others(35): Show c.2449_*2472delTCCCTCCTTCCCTCCTTCTCTCCC	CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding		2099		chrX	TogoVar
CLEC10A_chr17_7069537_7085251	7070600	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	458	0.0022	-24	c.44 others(35): Show c.4430_*4453delCTTTCTTTCTTTCTTTCTTTCTTT	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding		3936		chr17	TogoVar
CLEC14A_chr14_38249000_38261093	38258275	TAGTTTGA others(17): Show TAGTTTGAAATAGACAGTTTATCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0000 a0007c0007t0002g0000	1	412	0.0024	-24	c.-22 others(35): Show c.-2277_-2254delCAGATAAACTGTCTATTTCAAACT	CLEC14A	ENSG00000176435.7	transcript	ENST00000342213.3	protein_coding		2183		chr14	TogoVar
CLEC16A_chr16_10939564_11187186	11092361	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 HG01884.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0003c0021 a0001c0018 a0003c0021	a0001c0018t0018 a0003c0021t0008 a0001c0018t0018 a0003c0021t0008	a0001c0018t0018g0218 a0003c0021t0008g0021 a0001c0018t0018g0218 a0003c0021t0008g0021	2	274	0.0073	-24	c.211 others(45): Show c.2117-28236_2117-28213delCACACACACACACACACACACACA	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC1A_chr12_10064554_10103985	10088427	TAACTGTT others(17): Show TAACTGTTCAAAGAACAGTTAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01257.hp1 others(36): Show HG00438.hp1 HG00741.hp1 HG01257.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp1 NA18522.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0004t0014 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0004g0136 a0001c0004t0001g0063 a0001c0004t0014g0330 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0326 a0002c0002t0002g0221 a0002c0002t0002g0284 a0003c0003t0001g0061 a0003c0003t0002g0060 a0003c0003t0002g0062	39	384	0.1016	-24	c.214 others(39): Show c.214+673_214+696delCTTTTAACTGTTCTTTGAACAGTT	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC5A_chr7_141922357_141951974	141933575	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG02622.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0168 a0001c0001t0006g0170	2	386	0.0052	-24	c.346 others(41): Show c.346-1773_346-1750delATATATATATATATATATATATAT	CLEC5A	ENSG00000258227.7	transcript	ENST00000546910.6	protein_coding	5/6			chr7	TogoVar
CLEC9A_chr12_10025682_10071031	10029259	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	406	0.0025	-24	c.-20 others(35): Show c.-2030_-2007delTATATATATATATATATATATATA	CLEC9A	ENSG00000197992.7	transcript	ENST00000355819.6	protein_coding		1422		chr12	TogoVar
CLIC5_chr6_45893456_46020860	46006103	TATATATA others(17): Show TATATATATACACATGTATAAATAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 NA18961.hp2 others(1): Show HG03453.hp2 NA18522.hp2 NA18961.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0002g0227 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0002g0227 a0001c0001t0007g0026	4	340	0.0118	-24	c.63+ others(39): Show c.63+9353_63+9376delGTATTTATACATGTGTATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46018639	TGTCTGGA others(17): Show TGTCTGGAGAAAAACACTATATGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	340	0.0029	-24	c.-31 others(35): Show c.-3121_-3098delGACATATAGTGTTTTTCTCCAGAC	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding		2780		chr6	TogoVar
CLIC6_chr21_34663994_34723223	34711528	CAAATAAA others(17): Show CAAATAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0215 a0002c0002t0026g0215	1	312	0.0032	-24	c.189 others(43): Show c.1899+2011_1899+2034delAAATAAATAAATAAATAAATAAAT	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIP1_chr12_122266469_122427669	122275625	TACACACA others(17): Show TACACACACACACACACGCGCACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0010 a0001c0001t0010 a0001c0004t0010	a0001c0001t0010g0038 a0001c0001t0010g0219 a0001c0004t0010g0051 a0001c0001t0010g0038 a0001c0001t0010g0219 a0001c0004t0010g0051	3	234	0.0128	-24	c.396 others(43): Show c.3967-1487_3967-1464delGTGTGCGCGTGTGTGTGTGTGTGT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	24/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387547	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02559.hp2 HG03490.hp2 others(2): Show HG02080.hp1 HG02559.hp2 HG03490.hp2 HG04184.hp1 NA18955.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0015 a0001c0001 a0002c0002 a0006c0015	a0001c0001t0009 a0002c0002t0001 a0006c0015t0001 a0001c0001t0009 a0002c0002t0001 a0006c0015t0001	a0001c0001t0009g0044 a0002c0002t0001g0093 a0002c0002t0001g0136 others(2): Show a0001c0001t0009g0044 a0002c0002t0001g0093 a0002c0002t0001g0136 a0002c0002t0001g0159 a0006c0015t0001g0096	5	234	0.0214	-24	c.-10 others(43): Show c.-106-7013_-106-6990delATATATATATATATATATATATAT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387568	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01106.hp1 others(10): Show HG00280.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01515.hp1 HG01517.hp2 HG02602.hp2 HG02738.hp2 HG04199.hp2 HG04204.hp2 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003	a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0007t0005 a0003c0003t0001	a0001c0001t0006g0046 a0002c0002t0001g0129 a0002c0002t0001g0146 others(10): Show a0001c0001t0006g0046 a0002c0002t0001g0129 a0002c0002t0001g0146 a0002c0002t0002g0102 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0165 a0002c0002t0005g0147 a0002c0002t0005g0149 a0002c0002t0005g0150 a0002c0002t0005g0152 a0002c0007t0005g0153 a0003c0003t0001g0142	13	234	0.0556	-24	c.-10 others(43): Show c.-106-7034_-106-7011delAATATATATATATATATATATATA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP2_chr7_74284407_74410935	74349468	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG04184.hp1 HG03516.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0139 a0002c0003t0002g0116 a0001c0002t0001g0139 a0002c0003t0002g0116	2	278	0.0072	-24	c.679 others(41): Show c.679-4410_679-4387delGTATATATATATATATATATATAT	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74349470	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0202 a0001c0001t0001g0011 a0001c0001t0001g0202	2	278	0.0072	-24	c.679 others(41): Show c.679-4392_679-4369delATATATATATATATATATATATAT	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74390162	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0004 a0007c0017t0004	a0007c0017t0004g0075 a0007c0017t0004g0075	1	278	0.0036	-24	c.272 others(41): Show c.2720+943_2720+966delAAAGAAAGAAAGAAAGAAAGAAAG	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLMN_chr14_95176940_95324908	95208052	CAGGCAGC others(17): Show CAGGCAGCCCAGAGACACAGGGGCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp1 NA20129.hp2 HG02572.hp2 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0058 a0001c0001t0059 a0001c0003t0042 a0001c0001t0058 a0001c0001t0059 a0001c0003t0042	a0001c0001t0058g0263 a0001c0001t0059g0261 a0001c0003t0042g0247 a0001c0001t0058g0263 a0001c0001t0059g0261 a0001c0003t0042g0247	3	276	0.0109	-24	c.885 others(41): Show c.885+1319_885+1342delTGCCCCTGTGTCTCTGGGCTGCCT	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	8/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123106412	TGTGTGTG others(17): Show TGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01346.hp1 others(4): Show HG00738.hp1 HG01243.hp1 HG01346.hp1 HG02055.hp2 HG02165.hp1 HG02647.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0036 others(1): Show a0001c0001t0016 a0001c0001t0028 a0001c0001t0036 a0001c0001t0041	a0001c0001t0016g0018 a0001c0001t0016g0051 a0001c0001t0016g0086 others(4): Show a0001c0001t0016g0018 a0001c0001t0016g0051 a0001c0001t0016g0086 a0001c0001t0028g0221 a0001c0001t0028g0238 a0001c0001t0036g0114 a0001c0001t0041g0128	7	254	0.0276	-24	c.29- others(39): Show c.29-8484_29-8461delGCGCGCGCGCGCACACACACACAC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118929	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG01884.hp1 others(1): Show HG01099.hp1 HG01192.hp1 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0001t0035	a0001c0001t0001g0045 a0001c0001t0002g0211 a0001c0001t0031g0095 others(1): Show a0001c0001t0001g0045 a0001c0001t0002g0211 a0001c0001t0031g0095 a0001c0001t0035g0148	4	254	0.0158	-24	c.29- others(41): Show c.29-21001_29-20978delGAAAGAAAGAAAGAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118979	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0081 a0001c0001t0011g0081	1	254	0.0039	-24	c.29- others(41): Show c.29-21051_29-21028delGAGAAAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118983	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0030 a0001c0001t0011g0030	1	254	0.0039	-24	c.29- others(41): Show c.29-21055_29-21032delGAGAGAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118991	TTCTTTCT others(17): Show TTCTTTCTTTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	254	0.0039	-24	c.29- others(41): Show c.29-21063_29-21040delGAGAGAGAGAGAGAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)