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
CACNA2D1_chr7_81941444_82448777	82186230	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	144	0.0069	24	c.295 others(43): Show c.295-15622_295-15621insCTTCCTTTCTTCCTTCCTTCCTTC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186255	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 NA21309.hp1 HG01243.hp2 HG02630.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011	a0001c0001t0008g0043 a0001c0001t0009g0027 a0001c0001t0011g0066 a0001c0001t0008g0043 a0001c0001t0009g0027 a0001c0001t0011g0066	3	144	0.0208	24	c.295 others(43): Show c.295-15670_295-15647dupCCTTCCTTCCTTCCTTCCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(17): Show CACATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0135 a0001c0001t0018g0135	1	144	0.0069	24	c.295 others(43): Show c.295-46782_295-46781insATATATATATATATATATGTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp1 others(8): Show HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01243.hp1 HG01496.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 NA19070.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0004t0006 a0001c0004t0008 a0002c0005t0002	a0001c0001t0003g0051 a0001c0001t0005g0105 a0001c0001t0005g0106 others(8): Show a0001c0001t0003g0051 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0009g0080 a0001c0001t0012g0102 a0001c0002t0001g0063 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0004t0006g0104 a0001c0004t0008g0024 a0002c0005t0002g0134	11	144	0.0764	24	c.295 others(43): Show c.295-46809_295-46786dupATATATATATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82291148	A A	ATATAATT others(17): Show ATATAATTCTATATCGATATAGAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(14): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01975.hp2 HG02683.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp2 HG03239.hp1 HG03834.hp2 HG04115.hp2 NA18968.hp2 NA19060.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0129 a0001c0001t0003g0088 a0001c0001t0005g0096 a0001c0001t0005g0111 a0001c0001t0005g0139 a0001c0001t0006g0118 a0001c0001t0006g0142 a0001c0001t0007g0059 a0001c0001t0011g0066 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0010g0092	17	144	0.1181	24	c.294 others(43): Show c.294+43963_294+43986dupATTCTATATCGATATAGAATTATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0075 a0001c0007t0003g0075	1	144	0.0069	24	c.96- others(41): Show c.96-17255_96-17254insAAAAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393031	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	144	0.0069	24	c.96- others(41): Show c.96-43406_96-43383dupTCCTTCCTTCCTTCCTTCCTTCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393083	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	144	0.0069	24	c.96- others(41): Show c.96-43435_96-43434insGCCTTCCTTCCTTCCTTCCTTCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50468380	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	234	0.0043	24	c.288 others(41): Show c.288+7714_288+7737dupACACACACACACACACACACACAC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0001 a0001c0037t0004 a0001c0001t0001 a0001c0037t0004	a0001c0001t0001g0024 a0001c0037t0004g0019 a0001c0001t0001g0024 a0001c0037t0004g0019	2	118	0.0170	24	c.204 others(43): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149928	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0065 a0001c0010t0001g0065	1	118	0.0085	24	c.204 others(43): Show c.204+26337_204+26338insTCTCTCTCTCTCCCTCCCTCCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	118	0.0085	24	c.204 others(43): Show c.204+47564_204+47565insTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249558	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02080.hp1 HG02280.hp1 others(1): Show HG00423.hp2 HG02080.hp1 HG02280.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0115 a0001c0003t0001g0094 a0001c0003t0001g0101 others(1): Show a0001c0002t0001g0115 a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0004t0001g0007	4	118	0.0339	24	c.205 others(43): Show c.205-70877_205-70854dupACACACACACACACACACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54252100	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	118	0.0085	24	c.205 others(43): Show c.205-68328_205-68327insTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	118	0.0085	24	c.321 others(43): Show c.321+17931_321+17954dupGTGTGTGTGTGTGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54631203	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0009 a0001c0026t0009	a0001c0026t0009g0073 a0001c0026t0009g0073	1	118	0.0085	24	c.105 others(43): Show c.1053+3337_1053+3360dupCACACACACACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54687103	A A	ATTTTTCT others(17): Show ATTTTTCTTTTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG02258.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0005 a0001c0007t0001g0043 a0001c0005t0001g0005 a0001c0007t0001g0043	2	118	0.0170	24	c.116 others(45): Show c.1167+44885_1167+44886insCTTTTTCTTTTTCTTTTTCTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736018	C C	CACATATA others(17): Show CACATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0041 a0001c0022t0001g0041	1	118	0.0085	24	c.116 others(45): Show c.1168-16576_1168-16575insTATATATGTATATATATATACATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821697	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0064 a0001c0003t0006g0064	1	118	0.0085	24	c.139 others(43): Show c.1398+4830_1398+4831insTTTCTTTCTTTCCTTCCTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	118	0.0085	24	c.139 others(43): Show c.1398+5920_1398+5921insTTTCTTTCTTTCCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0016 a0001c0007t0001g0044 a0001c0001t0001g0016 a0001c0007t0001g0044	2	118	0.0170	24	c.191 others(43): Show c.1913-1481_1913-1458dupTCTCTCTCTCTCTCTCTCTCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883832	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	118	0.0085	24	c.191 others(43): Show c.1913-1449_1913-1448insTCTCTCTCTCTCTCTCCTCTCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55019079	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp2 others(4): Show HG01243.hp1 HG01884.hp2 HG02258.hp2 HG02280.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0020	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0002c0020t0001	a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0002t0002g0091 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0002t0002g0091 a0001c0006t0001g0017 a0001c0007t0001g0043 a0001c0007t0001g0067 a0002c0020t0001g0021	7	118	0.0593	24	c.298 others(41): Show c.2987+770_2987+793dupCTTTCTTTCTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1848762	A A	AATTATTA others(17): Show AATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0021 a0012c0026t0021	a0012c0026t0021g0188 a0012c0026t0021g0188	1	318	0.0031	24	c.224 others(43): Show c.2247-2074_2247-2073insAATAATAATAATAATAATAATAAT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	23/37			chr12	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0020 a0001c0002t0015g0020	1	200	0.0050	24	c.213 others(43): Show c.213+21964_213+21965insTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18288676	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	200	0.0050	24	c.214 others(45): Show c.214-113242_214-113219dupCACACACACACACACACACACACA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAATAA others(17): Show TAAAATAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG02293.hp2 others(4): Show HG00609.hp2 HG01074.hp1 HG02293.hp2 HG02300.hp1 HG03704.hp1 NA18981.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0017 a0001c0002t0020 others(3): Show a0001c0002t0002 a0001c0002t0017 a0001c0002t0020 a0001c0002t0027 a0001c0002t0044 a0001c0004t0010	a0001c0002t0002g0043 a0001c0002t0002g0075 a0001c0002t0017g0154 others(4): Show a0001c0002t0002g0043 a0001c0002t0002g0075 a0001c0002t0017g0154 a0001c0002t0020g0145 a0001c0002t0027g0016 a0001c0002t0044g0138 a0001c0004t0010g0122	7	200	0.0350	24	c.334 others(43): Show c.334-33933_334-33932insTAAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481230	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0014 a0001c0001t0018g0014	1	200	0.0050	24	c.334 others(43): Show c.334-17124_334-17123insATATATATATATATATATATTTTT	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(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01993.hp1 HG02300.hp2 others(1): Show HG00423.hp2 HG01993.hp1 HG02300.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0034 a0001c0001t0001g0123 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0123 a0001c0001t0001g0190 a0001c0001t0050g0040	4	200	0.0200	24	c.130 others(39): Show c.1302+54_1302+77dupTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show ATGTCTTTTTTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	302	0.0033	24	c.51+ others(41): Show c.51+15962_51+15963insGTCTTTTTTTTTTCTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAATAA others(17): Show TAAAATAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01074.hp2 others(5): Show HG00558.hp2 HG00609.hp1 HG01074.hp2 HG01975.hp2 HG03704.hp1 NA18981.hp1 NA19057.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0006 a0001c0002t0053 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0053 a0001c0004t0017	a0001c0002t0002g0030 a0001c0002t0002g0046 a0001c0002t0002g0215 others(5): Show a0001c0002t0002g0030 a0001c0002t0002g0046 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0006g0160 a0001c0002t0053g0155 a0001c0004t0017g0128 a0001c0004t0017g0164	8	302	0.0265	24	c.172 others(43): Show c.172-33933_172-33932insTAAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481230	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	302	0.0033	24	c.172 others(43): Show c.172-17124_172-17123insATATATATATATATATATATTTTT	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(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01993.hp2 NA18981.hp2 HG00423.hp2 HG01993.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0074 a0001c0001t0001g0143 a0001c0001t0020g0102 a0001c0001t0001g0074 a0001c0001t0001g0143 a0001c0001t0020g0102	3	302	0.0099	24	c.114 others(39): Show c.1140+54_1140+77dupTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861851	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp1 HG02572.hp1 others(8): Show HG01192.hp1 HG02145.hp1 HG02572.hp1 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0036 a0001c0001t0005g0081 others(8): Show a0001c0001t0005g0024 a0001c0001t0005g0036 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0092 a0001c0001t0005g0141 a0001c0001t0005g0144 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203	11	230	0.0478	24	c.759 others(41): Show c.759-1032_759-1031insGTTTTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151878550	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19067.hp1 HG06807.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0008 a0001c0002t0003 a0001c0003t0008	a0001c0002t0003g0160 a0001c0003t0008g0219 a0001c0002t0003g0160 a0001c0003t0008g0219	2	230	0.0087	24	c.391 others(41): Show c.391-2018_391-1995dupGTGTGTGTGTGTGTGTGTGTGTGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	230	0.0044	24	c.147 others(43): Show c.147+62678_147+62679insTATATATATAGAGAGAGAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp1 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0077 a0001c0002t0002g0076 a0001c0001t0006g0077 a0001c0002t0002g0076	2	230	0.0087	24	c.147 others(43): Show c.147+62678_147+62679insTATATATAGAGAGAGAGAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0083 a0001c0001t0031g0083	1	230	0.0044	24	c.147 others(43): Show c.147+62678_147+62679insTATATAGAGAGAGAGAGAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36679189	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 NA20129.hp1 HG02818.hp1 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0103 a0001c0001t0008 a0001c0001t0020 a0001c0001t0103	a0001c0001t0008g0150 a0001c0001t0020g0100 a0001c0001t0103g0204 a0001c0001t0008g0150 a0001c0001t0020g0100 a0001c0001t0103g0204	3	214	0.0140	24	c.211 others(43): Show c.211+23176_211+23177insAAAGAAAGAAAGAAAGAAAGAAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679193	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0087 a0001c0001t0020 a0001c0001t0087	a0001c0001t0020g0101 a0001c0001t0087g0186 a0001c0001t0020g0101 a0001c0001t0087g0186	2	214	0.0094	24	c.211 others(43): Show c.211+23172_211+23173insAAAGAAAGAAAGAAAGAAAGAAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTCCTT others(17): Show CCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02258.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0023 a0001c0001t0021 a0001c0001t0023	a0001c0001t0021g0118 a0001c0001t0023g0113 a0001c0001t0021g0118 a0001c0001t0023g0113	2	214	0.0094	24	c.211 others(43): Show c.211+23168_211+23169insAAAGAAAGAAAGAAAGAAAGGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0010 a0001c0001t0041g0010	1	214	0.0047	24	c.-11 others(35): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01106.hp1 others(9): Show HG00558.hp1 HG00639.hp1 HG01106.hp1 HG01981.hp2 HG02135.hp1 HG02896.hp1 HG03017.hp2 HG03486.hp2 HG03490.hp2 HG03834.hp2 HG03927.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0028 a0001c0001t0083 a0001c0001t0098	a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0078 others(9): Show a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0002g0068 a0001c0001t0016g0093 a0001c0001t0017g0077 a0001c0001t0019g0014 a0001c0001t0025g0184 a0001c0001t0028g0075 a0001c0001t0083g0179 a0001c0001t0098g0200	12	214	0.0561	24	c.-36 others(35): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24312920	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19011.hp1 HG00280.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0002g0002 a0001c0001t0001g0266 a0001c0001t0002g0002	2	366	0.0055	24	c.212 others(43): Show c.212-33801_212-33778dupAAGAAAGAAAGAAAGAAAGAAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24312955	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02738.hp1 HG03669.hp2 others(3): Show HG00733.hp1 HG02738.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0229 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0229 a0001c0001t0001g0305 a0001c0001t0001g0330 a0001c0001t0002g0320	6	366	0.0164	24	c.212 others(43): Show c.212-33778_212-33777insAAGAAAGAAAGAAAGAAAGAGAAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24313073	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02027.hp1 HG02155.hp2 others(10): Show HG01891.hp2 HG02027.hp1 HG02155.hp2 HG02572.hp2 HG03041.hp2 HG03486.hp1 HG03927.hp1 HG04204.hp2 NA18942.hp2 NA18968.hp2 NA18974.hp1 NA19068.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0055 a0001c0001t0001g0098 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0055 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0003g0202	13	366	0.0355	24	c.212 others(43): Show c.212-33646_212-33623dupGAAGGAAGGAAGGAAGGAAGGAAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24314733	G G	GCCTCCTC others(17): Show GCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	366	0.0027	24	c.212 others(43): Show c.212-31986_212-31963dupTCCTCCTCCTCCTCCTCCTCCTCC	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317644	A A	AAGAAAGA others(17): Show AAGAAAGAAAGGAAAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	366	0.0027	24	c.212 others(43): Show c.212-29089_212-29088insGAAAGAAAGGAAAAAGAAAGAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24351665	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	366	0.0027	24	c.296 others(41): Show c.296-3149_296-3148insAGAAGGAAAGAAAGAAAGAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG4_chr17_66959707_67038398	67002618	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0257 a0001c0001t0007g0257	1	352	0.0028	24	c.221 others(43): Show c.221-15566_221-15543dupTCTCTCTCTCTCTCTCTCTCTCTC	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar

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