Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA2D3_chr3_54117552_55079557	54122471	G G	GCCTCCCT others(10): Show GCCTCCCTCCCCACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0037 a0001c0003t0001g0038 a0001c0001t0001g0037 a0001c0003t0001g0038	2	118	0.0170	17	c.-24 others(26): Show c.-243_-242insCCTCCCTCCCCACCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding		80		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG01884.hp2 others(2): Show HG00639.hp2 HG01169.hp1 HG01884.hp2 HG01934.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 others(1): Show a0001c0001 a0001c0003 a0001c0018 a0001c0028	a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 a0001c0028t0001	a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0003t0001g0084 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0003t0001g0084 a0001c0018t0001g0076 a0001c0028t0001g0090	5	118	0.0424	17	c.204 others(36): Show c.204+47548_204+47564dupTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03130.hp1 HG03130.hp2 HG00099.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0020 a0001c0002t0001g0081 a0001c0003t0001g0112 a0001c0002t0001g0020 a0001c0002t0001g0081 a0001c0003t0001g0112	3	118	0.0254	17	c.138 others(36): Show c.1381-7540_1381-7524dupTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54832011	T T	TCATACAC others(10): Show TCATACACACAGCACACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0012 a0001c0037t0004 a0001c0001t0012 a0001c0037t0004	a0001c0001t0012g0063 a0001c0037t0004g0019 a0001c0001t0012g0063 a0001c0037t0004g0019	2	118	0.0170	17	c.139 others(36): Show c.1399-5146_1399-5145insTACACACAGCACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG02258.hp2 others(1): Show HG00738.hp1 HG02109.hp2 HG02258.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0048 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0048 a0001c0002t0002	a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0048g0195 others(1): Show a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0048g0195 a0001c0002t0002g0187	4	200	0.0200	17	c.-36 others(28): Show c.-3653_-3652insTTCCTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02523.hp1 HG02622.hp2 HG04199.hp2 others(1): Show HG02523.hp1 HG02622.hp2 HG04199.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0005 a0001c0001t0001 a0001c0001t0011 a0001c0002t0005	a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0011g0029 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0011g0029 a0001c0002t0005g0057	4	200	0.0200	17	c.121 others(29): Show c.121-19_121-3dupTTTTTTTTTTTTTTTTT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0200 a0001c0002t0005g0200	1	200	0.0050	17	c.213 others(36): Show c.213+21964_213+21965insTTTTTTTTTTTTTTTTT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp1 HG03491.hp1 others(1): Show HG01192.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0018 a0001c0002t0002 others(1): Show a0001c0001t0012 a0001c0001t0018 a0001c0002t0002 a0001c0002t0020	a0001c0001t0012g0003 a0001c0001t0018g0014 a0001c0002t0002g0092 others(1): Show a0001c0001t0012g0003 a0001c0001t0018g0014 a0001c0002t0002g0092 a0001c0002t0020g0103	4	200	0.0200	17	c.214 others(36): Show c.214-93930_214-93914dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18407109	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19002.hp2 NA19084.hp2 HG01257.hp1 NA19002.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0143 a0001c0001t0004g0150 a0001c0001t0004g0158 a0001c0001t0001g0143 a0001c0001t0004g0150 a0001c0001t0004g0158	3	200	0.0150	17	c.333 others(34): Show c.333+5081_333+5097dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01361.hp2 others(12): Show HG00642.hp2 HG01243.hp1 HG01361.hp2 HG02083.hp2 HG02723.hp2 HG02886.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2 NA18952.hp1 NA18983.hp1 NA19084.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0031 a0001c0002t0002 a0001c0002t0005 a0001c0002t0026 a0001c0002t0043 a0002c0003t0013	a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0094 others(12): Show a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0094 a0001c0001t0003g0108 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0008g0063 a0001c0001t0031g0056 a0001c0002t0002g0042 a0001c0002t0002g0059 a0001c0002t0002g0092 a0001c0002t0005g0100 a0001c0002t0026g0015 a0001c0002t0043g0101 a0002c0003t0013g0109	15	200	0.0750	17	c.334 others(36): Show c.334-33937_334-33936insTAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495582	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02559.hp2 HG02647.hp2 others(1): Show HG01071.hp1 HG02559.hp2 HG02647.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0021 a0001c0001t0036 a0001c0002t0002 others(1): Show a0001c0001t0021 a0001c0001t0036 a0001c0002t0002 a0002c0003t0052	a0001c0001t0021g0077 a0001c0001t0036g0176 a0001c0002t0002g0147 others(1): Show a0001c0001t0021g0077 a0001c0001t0036g0176 a0001c0002t0002g0147 a0002c0003t0052g0024	4	200	0.0200	17	c.334 others(34): Show c.334-2763_334-2762insGTGTGTGGTGTGTGTGT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0120 a0001c0001t0032g0120	1	200	0.0050	17	c.130 others(32): Show c.1302+61_1302+77dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18407109	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19002.hp1 NA19057.hp2 others(1): Show HG01257.hp1 NA19002.hp1 NA19057.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0001g0126	4	302	0.0133	17	c.171 others(34): Show c.171+5081_171+5097dupTTTTTTTTTTTTTTTTT	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(10): Show TTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01243.hp1 others(24): Show HG00140.hp2 HG00642.hp1 HG01243.hp1 HG01361.hp1 HG02083.hp1 HG02723.hp2 HG02886.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG06807.hp1 NA18945.hp1 NA18952.hp2 NA18969.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19084.hp2 NA19087.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0057 a0001c0001t0059 a0001c0002t0002 a0001c0002t0004 a0001c0002t0039 a0001c0002t0046 a0001c0002t0047 a0002c0003t0013	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0047 others(24): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0281 a0001c0001t0003g0051 a0001c0001t0007g0204 a0001c0001t0014g0122 a0001c0001t0014g0146 a0001c0001t0019g0116 a0001c0001t0057g0088 a0001c0001t0059g0079 a0001c0002t0002g0072 a0001c0002t0002g0084 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0270 a0001c0002t0004g0083 a0001c0002t0004g0227 a0001c0002t0039g0124 a0001c0002t0046g0069 a0001c0002t0047g0186 a0002c0003t0013g0189	27	302	0.0894	17	c.172 others(36): Show c.172-33937_172-33936insTAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495582	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02559.hp1 others(2): Show HG01070.hp1 HG01071.hp2 HG02559.hp1 HG02647.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0015 a0001c0001t0044 others(2): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0044 a0001c0002t0002 a0002c0003t0070	a0001c0001t0005g0237 a0001c0001t0015g0020 a0001c0001t0044g0018 others(2): Show a0001c0001t0005g0237 a0001c0001t0015g0020 a0001c0001t0044g0018 a0001c0002t0002g0203 a0002c0003t0070g0185	5	302	0.0166	17	c.172 others(34): Show c.172-2763_172-2762insGTGTGTGGTGTGTGTGT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19043.hp1 HG01934.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0062 a0001c0001t0001 a0001c0001t0062	a0001c0001t0001g0223 a0001c0001t0062g0231 a0001c0001t0001g0223 a0001c0001t0062g0231	2	302	0.0066	17	c.114 others(32): Show c.1140+61_1140+77dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36625026	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20300.hp2 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0079 a0001c0001t0034g0030 a0001c0001t0002g0079 a0001c0001t0034g0030	2	214	0.0094	17	c.212 others(36): Show c.212-37479_212-37478insTTTTTTTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703800	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0006 a0001c0001t0042g0006	1	214	0.0047	17	c.-12 others(28): Show c.-1225_-1224insGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		49		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703801	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0203 a0001c0001t0104g0203	1	214	0.0047	17	c.-12 others(28): Show c.-1226_-1225insGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		50		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703826	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0179 a0001c0001t0083g0179	1	214	0.0047	17	c.-12 others(28): Show c.-1251_-1250insGGGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		75		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24252666	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02080.hp1 others(2): Show HG00423.hp1 HG00673.hp2 HG02080.hp1 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0253 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0233 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260	5	366	0.0137	17	c.-40 others(28): Show c.-4089_-4088insTTTTTTTTTTTTTTTTT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding		3668		chr16	TogoVar
CACNG3_chr16_24251335_24367412	24348356	G G	GTGATCGT others(10): Show GTGATCGTGCCATTGCAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0211 a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0211	3	366	0.0082	17	c.295 others(34): Show c.295+1544_295+1560dupCGTGCCATTGCATTGAT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01109.hp2 others(6): Show HG00639.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG02738.hp1 HG02965.hp2 NA18962.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0007c0014t0002	a0001c0001t0002g0015 a0001c0001t0003g0027 a0001c0001t0003g0083 others(5): Show a0001c0001t0002g0015 a0001c0001t0003g0027 a0001c0001t0003g0083 a0001c0001t0004g0005 a0001c0001t0004g0108 a0001c0001t0004g0146 a0001c0001t0021g0104 a0007c0014t0002g0370	9	430	0.0209	17	c.54 others(28): Show c.5439_*5440insTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53946588	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	364	0.0028	17	c.42 others(28): Show c.4295_*4296insTATATATATATTTTTTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		2639		chr19	TogoVar
CACUL1_chr10_118671411_118759970	118700716	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0051 a0001c0001t0030g0051	1	388	0.0026	17	c.796 others(32): Show c.796+573_796+589dupTTTTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	5/8			chr10	TogoVar
CADM1_chr11_115164236_115509415	115196595	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	164	0.0061	17	c.111 others(36): Show c.1111+1794_1111+1810dupTTTTTTTTTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	9/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115206758	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02647.hp1 others(3): Show HG02257.hp1 HG02622.hp1 HG02647.hp1 NA18952.hp2 NA19058.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0043 others(3): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050 a0001c0001t0059	a0001c0001t0010g0050 a0001c0001t0011g0005 a0001c0001t0043g0126 others(3): Show a0001c0001t0010g0050 a0001c0001t0011g0005 a0001c0001t0043g0126 a0001c0001t0046g0135 a0001c0001t0050g0113 a0001c0001t0059g0024	6	164	0.0366	17	c.107 others(36): Show c.1078+2799_1078+2815dupAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	8/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0079 a0001c0001t0018g0079	1	164	0.0061	17	c.125 others(38): Show c.125-100239_125-100238insATATATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115413644	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG04115.hp1 others(5): Show HG02486.hp1 HG02970.hp2 HG04115.hp1 NA19010.hp1 NA19062.hp2 NA19067.hp2 NA19079.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0044	a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0002g0090 others(5): Show a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0002g0090 a0001c0001t0002g0154 a0001c0001t0006g0054 a0001c0001t0013g0116 a0001c0001t0014g0099 a0001c0001t0044g0108	8	164	0.0488	17	c.124 others(36): Show c.124+90626_124+90627insAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02015.hp1 others(3): Show HG01069.hp1 HG01243.hp2 HG02015.hp1 HG04199.hp1 HG04228.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0041	a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0004g0053 others(3): Show a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0004g0053 a0001c0001t0018g0039 a0001c0001t0020g0043 a0001c0001t0041g0056	6	146	0.0411	17	c.61+ others(34): Show c.61+75130_61+75146dupTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85144620	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp1 HG06807.hp2 HG01175.hp1 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0002 a0001c0001t0014 a0001c0001t0027	a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0027g0022 a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0027g0022	3	146	0.0206	17	c.61+ others(36): Show c.61+184955_61+184956insAGAAAGAAAGAAAGAAA	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(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG03195.hp2 HG02257.hp1 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0002t0034 a0001c0003t0006 a0001c0001t0007 a0001c0002t0034 a0001c0003t0006	a0001c0001t0007g0059 a0001c0002t0034g0046 a0001c0003t0006g0028 a0001c0001t0007g0059 a0001c0002t0034g0046 a0001c0003t0006g0028	3	146	0.0206	17	c.62- others(36): Show c.62-366855_62-366854insATATATATATATATATT	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(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	146	0.0069	17	c.62- others(36): Show c.62-366855_62-366854insATATATATATTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85768734	C C	CATATACA others(10): Show CATATACACACATATAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	146	0.0069	17	c.89- others(34): Show c.89-33308_89-33307insCACACATATAGTATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769229	C C	CATATATA others(10): Show CATATATACATATATAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02965.hp1 others(1): Show HG02451.hp1 HG02559.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0023 a0001c0001t0008g0013 a0001c0001t0008g0014 others(1): Show a0001c0001t0002g0023 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0141	4	146	0.0274	17	c.89- others(34): Show c.89-32817_89-32816insTATATACATATATAGTA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85855617	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp1 HG02280.hp1 others(1): Show HG01175.hp2 HG01884.hp1 HG02280.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0078 others(1): Show a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0030g0116	4	146	0.0274	17	c.239 others(36): Show c.239-27674_239-27673insTATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0116 a0001c0001t0030g0116	1	146	0.0069	17	c.529 others(36): Show c.529+12629_529+12630insATATATATATATATATT	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(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03491.hp1 NA18906.hp1 others(1): Show HG01361.hp2 HG03491.hp1 NA18906.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0036 a0001c0001t0001 a0001c0001t0007 a0001c0001t0036	a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0007g0082 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0007g0082 a0001c0001t0036g0106	4	146	0.0274	17	c.529 others(36): Show c.529+12629_529+12630insATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	86066332	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG03927.hp1 others(1): Show HG02630.hp1 HG03195.hp2 HG03927.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0036 a0001c0002t0034	a0001c0001t0002g0078 a0001c0001t0007g0029 a0001c0001t0036g0106 others(1): Show a0001c0001t0002g0078 a0001c0001t0007g0029 a0001c0001t0036g0106 a0001c0002t0034g0046	4	146	0.0274	17	c.109 others(34): Show c.1097-323_1097-307dupAAAAAAAAAAAAAAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	126	0.0079	17	c.48 others(28): Show c.4866_*4867insGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	126	0.0079	17	c.350 others(36): Show c.3505-5708_3505-5692dupTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122508449	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG01243.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0019 a0001c0001t0001g0003 a0001c0002t0001g0019	2	126	0.0159	17	c.154 others(36): Show c.1542+4783_1542+4799dupAAAAAAAAAAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	9/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62474153	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp1 HG03516.hp2 HG02895.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0127 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0127	3	160	0.0188	17	c.347 others(31): Show c.3477+3_3477+19dupAAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	24/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62576788	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG00438.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0071 a0001c0001t0001g0115	2	160	0.0125	17	c.157 others(36): Show c.1578-5867_1578-5851dupTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	8/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62629762	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	160	0.0063	17	c.132 others(38): Show c.1325+15959_1325+15960insCAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62648691	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01192.hp1 others(4): Show HG00735.hp2 HG01074.hp1 HG01192.hp1 HG02135.hp1 HG02922.hp2 HG02976.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0003g0004 a0001c0002t0001g0056 a0002c0008t0001g0100	7	160	0.0438	17	c.120 others(36): Show c.1203+2155_1203+2156insTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62748344	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp1 NA18962.hp1 others(1): Show HG03130.hp2 HG03139.hp1 NA18962.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0135 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0147	4	160	0.0250	17	c.888 others(34): Show c.888+5080_888+5096dupTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62855091	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	160	0.0063	17	c.441 others(36): Show c.441+19481_441+19497dupAAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7343590	C C	CAGTGTTG others(10): Show CAGTGTTGTCTGTAGGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	360	0.0028	17	c.237 others(36): Show c.2370-9517_2370-9501dupCTCCTACAGACAACACT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp1 HG01167.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0287 a0001c0001t0001g0010 a0001c0001t0002g0287	2	426	0.0047	17	c.-18 others(28): Show c.-1850_-1849insTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar

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