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
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0010 a0001c0038t0010	a0001c0038t0010g0059 a0001c0038t0010g0059	1	118	0.0085	19	c.204 others(38): Show c.204+47546_204+47564dupTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54350968	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0008 a0001c0004t0002g0008	1	118	0.0085	19	c.321 others(38): Show c.321+30423_321+30424insTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54554870	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02622.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0061 a0001c0004t0001g0022 a0001c0001t0001g0061 a0001c0004t0001g0022	2	118	0.0170	19	c.545 others(36): Show c.545-7927_545-7909dupTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54648812	T T	TGAGAGAG others(12): Show TGAGAGAGGAGGAGGTAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0048 a0001c0032t0001g0048	1	118	0.0085	19	c.116 others(38): Show c.1167+6578_1167+6596dupGGAGGAGGTAAGAGAGAGA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54687121	C C	CTTTTTCT others(12): Show CTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG03098.hp2 others(1): Show HG02280.hp2 HG02486.hp2 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0031 others(1): Show a0001c0002 a0001c0007 a0001c0031 a0001c0038	a0001c0002t0002 a0001c0007t0001 a0001c0031t0001 others(1): Show a0001c0002t0002 a0001c0007t0001 a0001c0031t0001 a0001c0038t0010	a0001c0002t0002g0091 a0001c0007t0001g0067 a0001c0031t0001g0032 others(1): Show a0001c0002t0002g0091 a0001c0007t0001g0067 a0001c0031t0001g0032 a0001c0038t0010g0059	4	118	0.0339	19	c.116 others(40): Show c.1167+44885_1167+44886insCTTTTTCTTTTTCTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	118	0.0085	19	c.139 others(38): Show c.1398+5920_1398+5921insTTTCTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54832011	T T	TCATACAC others(12): Show TCATACACACAGCACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0042 a0001c0005t0001g0088 a0001c0003t0001g0042 a0001c0005t0001g0088	2	118	0.0170	19	c.139 others(38): Show c.1399-5146_1399-5145insTACACACAGCACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18139141	T T	TGAGGCAG others(12): Show TGAGGCAGGAGAATGGATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp2 NA18522.hp2 HG02818.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002	a0001c0001t0003g0081 a0001c0001t0008g0063 a0001c0002t0002g0091 a0001c0001t0003g0081 a0001c0001t0008g0063 a0001c0002t0002g0091	3	200	0.0150	19	c.-15 others(30): Show c.-1596_-1595insGAGGCAGGAGAATGGATTG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		1282		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02451.hp2 HG02615.hp2 HG02922.hp1 others(1): Show HG02451.hp2 HG02615.hp2 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019	a0001c0001t0006g0017 a0001c0001t0008g0180 a0001c0001t0019g0124 others(1): Show a0001c0001t0006g0017 a0001c0001t0008g0180 a0001c0001t0019g0124 a0001c0001t0019g0126	4	200	0.0200	19	c.121 others(31): Show c.121-21_121-3dupTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02970.hp2 NA18985.hp2 HG00423.hp2 HG02970.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0050 a0001c0002t0005 a0001c0001t0006 a0001c0001t0050 a0001c0002t0005	a0001c0001t0006g0174 a0001c0001t0050g0040 a0001c0002t0005g0038 a0001c0001t0006g0174 a0001c0001t0050g0040 a0001c0002t0005g0038	3	200	0.0150	19	c.213 others(38): Show c.213+21964_213+21965insTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02723.hp1 HG02818.hp1 others(2): Show HG01943.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002	a0001c0001t0003g0047 a0001c0001t0004g0161 a0001c0001t0008g0007 others(2): Show a0001c0001t0003g0047 a0001c0001t0004g0161 a0001c0001t0008g0007 a0001c0002t0002g0091 a0001c0002t0002g0179	5	200	0.0250	19	c.214 others(38): Show c.214-93932_214-93914dupTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18356938	A A	ATGTCTTT others(12): Show ATGTCTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03540.hp2 HG02040.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0152 a0001c0001t0008g0063 a0001c0001t0004g0152 a0001c0001t0008g0063	2	200	0.0100	19	c.214 others(38): Show c.214-44985_214-44984insGTCTTTTTTTTTTCTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19091.hp2 NA18981.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0045 a0001c0001t0001g0123	2	200	0.0100	19	c.334 others(38): Show c.334-33933_334-33915dupAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495582	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG03540.hp1 HG02818.hp2 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0021 a0001c0002t0002 a0001c0006t0049 a0001c0001t0021 a0001c0002t0002 a0001c0006t0049	a0001c0001t0021g0060 a0001c0002t0002g0050 a0001c0006t0049g0076 a0001c0001t0021g0060 a0001c0002t0002g0050 a0001c0006t0049g0076	3	200	0.0150	19	c.334 others(36): Show c.334-2763_334-2762insGTGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01192.hp1 HG01071.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0028 a0001c0001t0021g0077 a0001c0001t0006g0028 a0001c0001t0021g0077	2	200	0.0100	19	c.130 others(34): Show c.1302+59_1302+77dupTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18356938	A A	ATGTCTTT others(12): Show ATGTCTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03540.hp2 HG02040.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0297 a0001c0001t0007g0204 a0001c0001t0001g0297 a0001c0001t0007g0204	2	302	0.0066	19	c.51+ others(36): Show c.51+15962_51+15963insGTCTTTTTTTTTTCTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358571	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0071 a0001c0001t0030g0071	1	302	0.0033	19	c.51+ others(36): Show c.51+17594_51+17595insCTCTCTCTCTCTCTCTCTC	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19091.hp2 NA18981.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0142 a0001c0001t0001g0074 a0001c0001t0001g0142	2	302	0.0066	19	c.172 others(38): Show c.172-33933_172-33915dupAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TTAAAAAA others(12): Show TTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04184.hp1 NA18906.hp1 others(1): Show HG00735.hp1 HG04184.hp1 NA18906.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0176 a0001c0001t0003g0208 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0176 a0001c0001t0003g0208 a0001c0002t0002g0092	4	302	0.0133	19	c.172 others(38): Show c.172-33937_172-33936insTAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495582	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp2 HG03540.hp1 HG02818.hp2 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0015 a0001c0002t0002 a0001c0008t0068 a0001c0001t0015 a0001c0002t0002 a0001c0008t0068	a0001c0001t0015g0019 a0001c0002t0002g0210 a0001c0008t0068g0066 a0001c0001t0015g0019 a0001c0002t0002g0210 a0001c0008t0068g0066	3	302	0.0099	19	c.172 others(36): Show c.172-2763_172-2762insGTGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp1 NA18968.hp1 HG01071.hp2 HG01192.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0001 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0133 a0001c0001t0005g0012 a0001c0001t0015g0020 a0001c0001t0001g0133 a0001c0001t0005g0012 a0001c0001t0015g0020	3	302	0.0099	19	c.114 others(34): Show c.1140+59_1140+77dupTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703800	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	214	0.0047	19	c.-12 others(30): Show c.-1225_-1224insGAGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		49		chr22	TogoVar
CACNG5_chr17_66830117_66899751	66894797	A A	ATCTTCTG others(12): Show ATCTTCTGCTTTCCTCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	372	0.0027	19	c.95 others(30): Show c.9557_*9558insTCTTCTGCTTTCCTCCATG	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding		47		chr17	TogoVar
CACNG6_chr19_53986637_54017666	54002267	G G	GTTTTTTT others(12): Show GTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	430	0.0023	19	c.544 others(36): Show c.544+2503_544+2504insTGTTTTTTTTTTTTTTTTT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54006517	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0262 a0004c0006t0002g0262	1	430	0.0023	19	c.545 others(36): Show c.545-5430_545-5429insTTTTTTTTTTTTTTTTTTT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CCCTCTCT others(12): Show CCCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	430	0.0023	19	c.54 others(30): Show c.5439_*5440insCCTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02602.hp1 HG03688.hp2 others(1): Show HG01099.hp2 HG02602.hp1 HG03688.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0268 a0001c0001t0002g0369 a0001c0001t0004g0102 others(1): Show a0001c0001t0002g0268 a0001c0001t0002g0369 a0001c0001t0004g0102 a0001c0001t0004g0121	4	430	0.0093	19	c.54 others(30): Show c.5439_*5440insTCTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CACUL1_chr10_118671411_118759970	118700716	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0048 a0001c0001t0051g0048	1	388	0.0026	19	c.796 others(34): Show c.796+571_796+589dupTTTTTTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	5/8			chr10	TogoVar
CACUL1_chr10_118671411_118759970	118746151	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0148 a0001c0001t0018g0148	1	388	0.0026	19	c.367 others(36): Show c.367+8244_367+8245insTTTTTTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	1/8			chr10	TogoVar
CADM1_chr11_115164236_115509415	115404346	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0017 a0001c0001t0065g0017	1	164	0.0061	19	c.124 others(38): Show c.124+99924_124+99925insATATATATTTTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18995.hp1 HG01517.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0044 a0001c0001t0012g0057 a0001c0001t0002g0044 a0001c0001t0012g0057	2	146	0.0137	19	c.61+ others(36): Show c.61+75128_61+75146dupTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	146	0.0069	19	c.62- others(38): Show c.62-366855_62-366854insATATATATATATATATTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0022 a0001c0001t0027g0022	1	146	0.0069	19	c.62- others(38): Show c.62-366855_62-366854insATATATATATTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	146	0.0069	19	c.529 others(38): Show c.529+12629_529+12630insATATATATATATATATTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0145 a0001c0001t0029g0145	1	146	0.0069	19	c.529 others(38): Show c.529+12629_529+12630insATATATATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898956	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 NA19030.hp1 others(1): Show HG00140.hp1 HG00738.hp1 NA19030.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0033 a0001c0001t0001 a0001c0004t0033	a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0004t0033g0110	4	146	0.0274	19	c.529 others(38): Show c.529+12629_529+12630insATATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	86066332	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0076 a0001c0001t0015g0076	1	146	0.0069	19	c.109 others(36): Show c.1097-325_1097-307dupAAAAAAAAAAAAAAAAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0007	2	126	0.0159	19	c.350 others(38): Show c.3505-5710_3505-5692dupTTTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62474153	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	160	0.0063	19	c.347 others(34): Show c.3477+19_3477+20insAAAAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	24/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03017.hp2 NA19240.hp2 others(1): Show HG01081.hp1 HG03017.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0001c0001t0001 a0001c0002t0001 a0001c0011t0001	a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0002t0001g0023 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0002t0001g0023 a0001c0011t0001g0146	4	160	0.0250	19	c.888 others(38): Show c.888+21617_888+21635dupTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62748344	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	160	0.0063	19	c.888 others(36): Show c.888+5078_888+5096dupTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7343198	A A	AAAAAAAA others(12): Show AAAAAAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02280.hp2 HG02300.hp1 others(9): Show HG01168.hp2 HG02280.hp2 HG02300.hp1 HG02886.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0006 a0001c0001 a0001c0002 a0006c0006	a0001c0001t0001 a0001c0002t0001 a0006c0006t0001 a0001c0001t0001 a0001c0002t0001 a0006c0006t0001	a0001c0001t0001g0216 a0001c0002t0001g0018 a0001c0002t0001g0102 others(9): Show a0001c0001t0001g0216 a0001c0002t0001g0018 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0152 a0001c0002t0001g0154 a0006c0006t0001g0178	12	360	0.0333	19	c.237 others(38): Show c.2370-9109_2370-9108insCTTTTCTTTTCTTTTTTTT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00735.hp1 others(15): Show HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp2 HG02040.hp1 HG02071.hp2 HG02132.hp1 HG02698.hp1 NA18947.hp1 NA18956.hp1 NA18961.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19005.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0311 others(13): Show a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0311 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0056 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0356	18	426	0.0423	19	c.-18 others(30): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	426	0.0024	19	c.95- others(34): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp1 HG03486.hp2 others(3): Show HG02486.hp1 HG03041.hp1 HG03486.hp2 NA18969.hp1 NA19056.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0261 a0001c0001t0002g0279 others(3): Show a0001c0001t0002g0251 a0001c0001t0002g0261 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0002g0321	6	328	0.0183	19	c.912 others(36): Show c.912+1385_912+1386insATATATATATATATATATT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18971.hp1 NA19240.hp1 HG03041.hp2 NA18971.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0011 a0001c0001t0002 a0004c0004t0011	a0001c0001t0002g0281 a0001c0001t0002g0297 a0004c0004t0011g0072 a0001c0001t0002g0281 a0001c0001t0002g0297 a0004c0004t0011g0072	3	328	0.0092	19	c.912 others(36): Show c.912+1385_912+1386insATATATATATATATATTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03492.hp1 others(6): Show HG01257.hp1 HG01258.hp2 HG03492.hp1 HG03942.hp2 NA18939.hp2 NA18946.hp2 NA18951.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0003c0003t0001 a0003c0003t0007 a0003c0003t0029 a0004c0004t0031	a0001c0001t0002g0285 a0001c0001t0006g0284 a0001c0001t0014g0296 others(6): Show a0001c0001t0002g0285 a0001c0001t0006g0284 a0001c0001t0014g0296 a0003c0003t0001g0020 a0003c0003t0001g0047 a0003c0003t0007g0062 a0003c0003t0007g0064 a0003c0003t0029g0030 a0004c0004t0031g0084	9	328	0.0274	19	c.912 others(36): Show c.912+1385_912+1386insATATATATATATATTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00642.hp2 others(3): Show HG00323.hp2 HG00639.hp2 HG00642.hp2 HG01106.hp2 HG01167.hp1 HG02273.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0255 a0003c0003t0001g0027 a0003c0003t0001g0029 others(3): Show a0001c0001t0002g0255 a0003c0003t0001g0027 a0003c0003t0001g0029 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0051	6	328	0.0183	19	c.912 others(36): Show c.912+1385_912+1386insATATATATATATTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19084.hp2 HG00423.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0268 a0002c0002t0001g0177 a0001c0001t0002g0268 a0002c0002t0001g0177	2	328	0.0061	19	c.912 others(36): Show c.912+1385_912+1386insATATATATATTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854397	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG02572.hp2 HG00323.hp1 HG01243.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0014g0322 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0014g0322	3	328	0.0092	19	c.912 others(36): Show c.912+1385_912+1386insATATATATATATATATATA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)