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
CACNA1E_chr1_181478517_181813084	181686284	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0031 a0001c0020t0031	a0001c0020t0031g0074 a0001c0020t0031g0074	1	206	0.0049	11	c.105 others(32): Show c.1056-24660_1056-24659insGTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1189397	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	338	0.0030	11	c.300 others(28): Show c.300-5548_300-5538dupTTTTTTTTTTT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03139.hp1 HG02148.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0087 a0001c0002t0001g0045 a0001c0001t0001g0087 a0001c0002t0001g0045	2	144	0.0139	11	c.527 others(30): Show c.527-14533_527-14523dupAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA21309.hp1 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0084 a0001c0001t0011g0066 a0001c0001t0007g0084 a0001c0001t0011g0066	2	144	0.0139	11	c.355 others(28): Show c.355-1042_355-1032dupTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82172640	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0081 a0001c0001t0007g0084	2	144	0.0139	11	c.295 others(28): Show c.295-2032_295-2031insGAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03453.hp2 others(2): Show HG02572.hp2 HG02922.hp1 HG03453.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0003g0076 a0001c0001t0011g0066 others(2): Show a0001c0001t0001g0012 a0001c0001t0003g0076 a0001c0001t0011g0066 a0001c0001t0021g0113 a0001c0002t0001g0017	5	144	0.0347	11	c.295 others(30): Show c.295-10443_295-10433dupAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp2 HG02717.hp1 others(1): Show HG01071.hp1 HG01261.hp2 HG02717.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0010	a0001c0001t0003g0016 a0001c0001t0005g0105 a0001c0002t0001g0026 others(1): Show a0001c0001t0003g0016 a0001c0001t0005g0105 a0001c0002t0001g0026 a0001c0002t0010g0092	4	144	0.0278	11	c.294 others(30): Show c.294+38052_294+38062dupTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82363254	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01884.hp2 others(5): Show HG00639.hp2 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02717.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0007g0078 others(5): Show a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0007g0078 a0001c0001t0008g0043 a0001c0001t0009g0065 a0001c0001t0012g0102 a0001c0002t0001g0026 a0001c0003t0001g0025	8	144	0.0556	11	c.96- others(28): Show c.96-13616_96-13606dupAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50443261	A A	ACCCACCC others(4): Show ACCCACCCTGGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	234	0.0043	11	c.289 others(28): Show c.289-8843_289-8833dupGCCAGGGTGGG	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01169.hp2 others(9): Show HG00438.hp2 HG00673.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG02280.hp2 HG02572.hp2 HG03041.hp2 HG04204.hp1 NA18979.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(5): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0022 a0001c0040 a0001c0041	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0022t0001 a0001c0040t0001 a0001c0041t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0029 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0005t0001g0005 a0001c0007t0001g0067 a0001c0009t0001g0113 a0001c0010t0001g0065 a0001c0022t0001g0041 a0001c0040t0001g0117 a0001c0041t0001g0085	12	118	0.1017	11	c.204 others(30): Show c.204+47554_204+47564dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54246724	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG02630.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0001 a0001c0037t0004 a0001c0001t0001 a0001c0037t0004	a0001c0001t0001g0033 a0001c0037t0004g0019 a0001c0001t0001g0033 a0001c0037t0004g0019	2	118	0.0170	11	c.205 others(30): Show c.205-73711_205-73710insAAAAAAAAAAA	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(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(12): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG02109.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG06807.hp2 NA18906.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0015 a0001c0023 a0001c0030	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0001c0011t0006 a0001c0012t0005 a0001c0015t0001 a0001c0023t0001 a0001c0030t0001	a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0107 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0107 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0039 a0001c0003t0001g0026 a0001c0006t0001g0009 a0001c0008t0001g0074 a0001c0011t0001g0099 a0001c0011t0006g0056 a0001c0012t0005g0027 a0001c0015t0001g0072 a0001c0023t0001g0018 a0001c0030t0001g0028	15	118	0.1271	11	c.205 others(30): Show c.205-68338_205-68328dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54303818	G G	GTTTTTTG others(4): Show GTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp2 HG01255.hp1 others(4): Show HG01070.hp1 HG01123.hp2 HG01255.hp1 HG02486.hp1 HG02970.hp2 HG03239.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0017 a0001c0027	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0006 a0001c0014t0001 a0001c0017t0001 a0001c0027t0001	a0001c0001t0001g0035 a0001c0001t0002g0003 a0001c0002t0001g0012 others(4): Show a0001c0001t0001g0035 a0001c0001t0002g0003 a0001c0002t0001g0012 a0001c0003t0006g0064 a0001c0014t0001g0071 a0001c0017t0001g0025 a0001c0027t0001g0014	7	118	0.0593	11	c.205 others(30): Show c.205-16618_205-16617insGTTTTTTTTTT	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(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	118	0.0085	11	c.321 others(30): Show c.321+30413_321+30423dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54412610	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp2 HG01884.hp2 others(14): Show HG01169.hp2 HG01243.hp2 HG01884.hp2 HG01934.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0022 a0001c0025 a0001c0028 a0001c0043	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0014t0001 a0001c0022t0001 a0001c0025t0004 a0001c0028t0001 a0001c0043t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0037 others(14): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0003t0001g0042 a0001c0003t0001g0084 a0001c0005t0001g0088 a0001c0009t0001g0013 a0001c0010t0001g0065 a0001c0013t0001g0105 a0001c0014t0001g0102 a0001c0022t0001g0041 a0001c0025t0004g0106 a0001c0028t0001g0090 a0001c0043t0001g0051	17	118	0.1441	11	c.381 others(30): Show c.381+25837_381+25847dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54598307	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	118	0.0085	11	c.963 others(30): Show c.963+16445_963+16455dupAAAAAAAAAAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0018 a0001c0023t0001g0018	1	118	0.0085	11	c.138 others(30): Show c.1381-5348_1381-5338dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02572.hp2 HG02080.hp1 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0022 a0001c0003 a0001c0022	a0001c0003t0001 a0001c0022t0001 a0001c0003t0001 a0001c0022t0001	a0001c0003t0001g0101 a0001c0022t0001g0041 a0001c0003t0001g0101 a0001c0022t0001g0041	2	118	0.0170	11	c.139 others(30): Show c.1398+5920_1398+5921insTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883823	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp2 HG02615.hp1 NA19240.hp2	a0001 a0001	a0001c0014 a0001c0034 a0001c0014 a0001c0034	a0001c0014t0001 a0001c0034t0001 a0001c0014t0001 a0001c0034t0001	a0001c0014t0001g0102 a0001c0034t0001g0086 a0001c0014t0001g0102 a0001c0034t0001g0086	2	118	0.0170	11	c.191 others(30): Show c.1913-1458_1913-1457insTCTCTCTCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54886935	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02572.hp2 HG02976.hp1 others(3): Show HG01192.hp1 HG02572.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0026 others(3): Show a0001c0002 a0001c0022 a0001c0026 a0001c0037 a0001c0038 a0001c0042	a0001c0002t0001 a0001c0022t0001 a0001c0026t0009 others(3): Show a0001c0002t0001 a0001c0022t0001 a0001c0026t0009 a0001c0037t0004 a0001c0038t0010 a0001c0042t0001	a0001c0002t0001g0079 a0001c0022t0001g0041 a0001c0026t0009g0073 others(3): Show a0001c0002t0001g0079 a0001c0022t0001g0041 a0001c0026t0009g0073 a0001c0037t0004g0019 a0001c0038t0010g0059 a0001c0042t0001g0078	6	118	0.0509	11	c.205 others(30): Show c.2057-1020_2057-1010dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54891222	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp1 HG02622.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0001 a0001c0021t0002 a0001c0004t0001 a0001c0021t0002	a0001c0004t0001g0022 a0001c0021t0002g0023 a0001c0004t0001g0022 a0001c0021t0002g0023	2	118	0.0170	11	c.215 others(28): Show c.2151-133_2151-132insGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	24/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54911351	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	118	0.0085	11	c.244 others(32): Show c.2449+11495_2449+11505dupTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1851682	T T	TGTGTGTG others(4): Show TGTGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	318	0.0031	11	c.224 others(30): Show c.2246+2268_2246+2269insCGCACACACAC	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	23/37			chr12	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02630.hp1 HG02630.hp2 HG03453.hp1 others(1): Show HG02630.hp1 HG02630.hp2 HG03453.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0001 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0012g0003 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0012g0003 a0001c0001t0016g0006	4	200	0.0200	11	c.121 others(23): Show c.121-13_121-3dupTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18171521	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01074.hp2 others(9): Show HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01169.hp2 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG02818.hp1 HG03490.hp1 HG03540.hp2 HG03704.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021 a0001c0002t0002 a0002c0003t0014	a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0003g0072 others(9): Show a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0003g0072 a0001c0001t0003g0095 a0001c0001t0008g0063 a0001c0001t0021g0077 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0091 a0001c0002t0002g0142 a0002c0003t0014g0078	12	200	0.0600	11	c.213 others(30): Show c.213+20564_213+20574dupAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01361.hp1 others(19): Show HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG04199.hp2 HG06807.hp1 NA18952.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0031 a0001c0001t0054 a0001c0002t0005 a0001c0002t0015 a0001c0002t0026 a0002c0003t0013 a0002c0003t0052 a0002c0003t0053	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0003g0026 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0004g0163 a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0011g0125 a0001c0001t0012g0003 a0001c0001t0018g0011 a0001c0001t0018g0014 a0001c0001t0019g0124 a0001c0001t0019g0126 a0001c0001t0028g0013 a0001c0001t0031g0056 a0001c0001t0054g0162 a0001c0002t0005g0057 a0001c0002t0015g0018 a0001c0002t0015g0019 a0001c0002t0026g0015 a0002c0003t0013g0022 a0002c0003t0052g0024 a0002c0003t0053g0027	22	200	0.1100	11	c.213 others(30): Show c.213+21954_213+21964dupTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18220217	A A	AGAGGGGG others(4): Show AGAGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	200	0.0050	11	c.213 others(30): Show c.213+69242_213+69243insGAGGGGGGGGG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18228433	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp2 others(62): Show HG00423.hp1 HG00423.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02886.hp2 HG02895.hp2 HG03041.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18952.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0042 a0001c0001t0050 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0020 a0001c0002t0026 a0001c0002t0027 a0001c0002t0030 a0001c0002t0044 a0001c0002t0059 a0001c0004t0038 a0002c0003t0014 a0002c0003t0025 a0002c0003t0056	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0045 others(62): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0190 a0001c0001t0003g0044 a0001c0001t0003g0095 a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0003g0144 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0006g0005 a0001c0001t0008g0063 a0001c0001t0008g0083 a0001c0001t0008g0180 a0001c0001t0009g0177 a0001c0001t0011g0055 a0001c0001t0011g0125 a0001c0001t0018g0011 a0001c0001t0018g0014 a0001c0001t0019g0126 a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0029g0009 a0001c0001t0031g0056 a0001c0001t0032g0120 a0001c0001t0037g0194 a0001c0001t0042g0093 a0001c0001t0050g0040 a0001c0001t0055g0170 a0001c0002t0002g0041 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0092 a0001c0002t0002g0112 a0001c0002t0002g0129 a0001c0002t0002g0185 a0001c0002t0005g0038 a0001c0002t0005g0051 a0001c0002t0005g0097 a0001c0002t0005g0100 a0001c0002t0005g0118 a0001c0002t0015g0018 a0001c0002t0015g0019 a0001c0002t0020g0103 a0001c0002t0020g0145 a0001c0002t0026g0015 a0001c0002t0027g0016 a0001c0002t0030g0046 a0001c0002t0044g0138 a0001c0002t0059g0054 a0001c0004t0038g0139 a0002c0003t0014g0073 a0002c0003t0014g0078 a0002c0003t0025g0012 a0002c0003t0056g0053	65	200	0.3250	11	c.213 others(30): Show c.213+77464_213+77474dupAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18228444	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0088 a0001c0001t0007g0088	1	200	0.0050	11	c.213 others(30): Show c.213+77474_213+77475insAAAAAGAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18228445	A A	AAAAAAGA others(4): Show AAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02723.hp2 others(2): Show HG02257.hp2 HG02559.hp1 HG02723.hp2 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0019 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0019 a0001c0002t0002 a0001c0002t0043 a0001c0005t0022	a0001c0001t0003g0081 a0001c0001t0019g0124 a0001c0002t0002g0178 others(2): Show a0001c0001t0003g0081 a0001c0001t0019g0124 a0001c0002t0002g0178 a0001c0002t0043g0101 a0001c0005t0022g0186	5	200	0.0250	11	c.213 others(30): Show c.213+77474_213+77475insAGAAAAGAAAA	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01258.hp2 others(7): Show HG00642.hp2 HG01243.hp1 HG01258.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 a0001c0001t0039 a0001c0002t0002 a0001c0002t0005 a0001c0002t0026 a0001c0005t0022 a0002c0003t0013	a0001c0001t0001g0048 a0001c0001t0001g0190 a0001c0001t0007g0088 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0190 a0001c0001t0007g0088 a0001c0001t0023g0191 a0001c0001t0039g0062 a0001c0002t0002g0092 a0001c0002t0005g0100 a0001c0002t0026g0015 a0001c0005t0022g0090 a0002c0003t0013g0109	10	200	0.0500	11	c.333 others(28): Show c.333+5087_333+5097dupTTTTTTTTTTT	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(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp2 HG02451.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0081 a0001c0001t0019g0126 a0001c0001t0003g0081 a0001c0001t0019g0126	2	200	0.0100	11	c.334 others(30): Show c.334-17124_334-17123insATATATATATT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481231	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01981.hp1 HG01516.hp2 HG01981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0056 a0001c0001t0001 a0002c0003t0056	a0001c0001t0001g0117 a0002c0003t0056g0053 a0001c0001t0001g0117 a0002c0003t0056g0053	2	200	0.0100	11	c.334 others(30): Show c.334-17124_334-17123insATATATATATA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495582	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03041.hp2 others(1): Show HG02572.hp1 HG02723.hp1 HG03041.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0048 a0002c0003t0024 a0001c0001t0008 a0001c0001t0048 a0002c0003t0024	a0001c0001t0008g0007 a0001c0001t0008g0063 a0001c0001t0048g0195 others(1): Show a0001c0001t0008g0007 a0001c0001t0008g0063 a0001c0001t0048g0195 a0002c0003t0024g0141	4	200	0.0200	11	c.334 others(28): Show c.334-2763_334-2762insGGTGTGTGTGT	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02896.hp2 HG02055.hp1 HG02615.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0001t0001 a0001c0001t0006 a0001c0001t0035	a0001c0001t0001g0096 a0001c0001t0006g0017 a0001c0001t0035g0086 a0001c0001t0001g0096 a0001c0001t0006g0017 a0001c0001t0035g0086	3	200	0.0150	11	c.130 others(26): Show c.1302+67_1302+77dupTTTTTTTTTTT	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01258.hp1 others(13): Show HG00642.hp1 HG01243.hp1 HG01258.hp1 HG01993.hp2 HG02145.hp2 HG02258.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp1 HG03942.hp1 NA18944.hp2 NA18969.hp1 NA18982.hp1 NA19068.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0022 a0001c0001t0029 a0001c0002t0002 a0001c0002t0004 a0001c0005t0021 a0002c0003t0013	a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0143 others(13): Show a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0010g0028 a0001c0001t0014g0146 a0001c0001t0022g0038 a0001c0001t0029g0190 a0001c0002t0002g0084 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0004g0068 a0001c0002t0004g0083 a0001c0002t0004g0094 a0001c0002t0004g0141 a0001c0005t0021g0276 a0002c0003t0013g0189	16	302	0.0530	11	c.171 others(28): Show c.171+5087_171+5097dupTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	302	0.0033	11	c.172 others(30): Show c.172-33925_172-33915dupAAAAAAAAAAA	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(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp1 HG02451.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0251 a0001c0001t0003g0127 a0001c0001t0001g0251 a0001c0001t0003g0127	2	302	0.0066	11	c.172 others(30): Show c.172-17124_172-17123insATATATATATT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481231	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01981.hp1 HG02027.hp1 HG01515.hp1 HG01981.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0001c0001t0001 a0001c0001t0003 a0001c0001t0034	a0001c0001t0001g0008 a0001c0001t0003g0060 a0001c0001t0034g0017 a0001c0001t0001g0008 a0001c0001t0003g0060 a0001c0001t0034g0017	3	302	0.0099	11	c.172 others(30): Show c.172-17124_172-17123insATATATATATA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495582	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03041.hp1 others(1): Show HG02572.hp1 HG02723.hp1 HG03041.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0061 a0002c0003t0023 a0001c0001t0007 a0001c0001t0061 a0002c0003t0023	a0001c0001t0007g0179 a0001c0001t0007g0204 a0001c0001t0061g0180 others(1): Show a0001c0001t0007g0179 a0001c0001t0007g0204 a0001c0001t0061g0180 a0002c0003t0023g0292	4	302	0.0133	11	c.172 others(28): Show c.172-2763_172-2762insGGTGTGTGTGT	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp1 HG02615.hp1 others(1): Show HG01975.hp1 HG02055.hp1 HG02615.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0025	a0001c0001t0001g0063 a0001c0001t0005g0090 a0001c0001t0015g0111 others(1): Show a0001c0001t0001g0063 a0001c0001t0005g0090 a0001c0001t0015g0111 a0001c0001t0025g0241	4	302	0.0133	11	c.114 others(26): Show c.1140+67_1140+77dupTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861842	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02630.hp1 others(15): Show HG02145.hp2 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03831.hp2 HG03927.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0001t0029 a0001c0002t0002 a0001c0003t0008 a0001c0003t0016 a0001c0003t0027	a0001c0001t0002g0020 a0001c0001t0002g0139 a0001c0001t0002g0214 others(15): Show a0001c0001t0002g0020 a0001c0001t0002g0139 a0001c0001t0002g0214 a0001c0001t0004g0001 a0001c0001t0004g0049 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0004g0223 a0001c0001t0025g0204 a0001c0001t0029g0208 a0001c0002t0002g0162 a0001c0002t0002g0224 a0001c0003t0008g0089 a0001c0003t0008g0101 a0001c0003t0008g0142 a0001c0003t0016g0005 a0001c0003t0016g0088 a0001c0003t0027g0129	18	230	0.0783	11	c.759 others(28): Show c.759-1033_759-1023dupTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151886777	G G	GCTGGCTT others(4): Show GCTGGCTTGGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0019 a0001c0006t0044 a0001c0005t0019 a0001c0006t0044	a0001c0005t0019g0199 a0001c0006t0044g0033 a0001c0005t0019g0199 a0001c0006t0044g0033	2	230	0.0087	11	c.148 others(28): Show c.148-3418_148-3408dupTACCAAGCCAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152093407	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0152 a0001c0002t0003g0152	1	230	0.0044	11	c.147 others(28): Show c.147+4912_147+4922dupACACACACACA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152097272	T T	TTGATGAT others(4): Show TTGATGATAATC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	230	0.0044	11	c.147 others(28): Show c.147+1047_147+1057dupGATTATCATCA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36625026	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(24): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG01069.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01943.hp2 HG02129.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG03704.hp2 NA18975.hp2 NA18984.hp1 NA19043.hp1 NA19055.hp1 NA19066.hp2 NA19084.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0038 a0001c0001t0043 a0001c0001t0055 a0001c0001t0059 a0001c0001t0067 a0001c0001t0084 a0001c0001t0093 a0001c0001t0102 a0001c0001t0103	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 others(24): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0002g0042 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0004g0019 a0001c0001t0005g0123 a0001c0001t0006g0144 a0001c0001t0006g0156 a0001c0001t0006g0162 a0001c0001t0006g0175 a0001c0001t0008g0174 a0001c0001t0012g0149 a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0001t0014g0084 a0001c0001t0025g0182 a0001c0001t0038g0058 a0001c0001t0043g0033 a0001c0001t0055g0106 a0001c0001t0059g0109 a0001c0001t0067g0125 a0001c0001t0084g0183 a0001c0001t0093g0196 a0001c0001t0102g0205 a0001c0001t0103g0204	27	214	0.1262	11	c.212 others(30): Show c.212-37489_212-37479dupTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36645536	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0205 a0001c0001t0102g0205	1	214	0.0047	11	c.211 others(30): Show c.211+56819_211+56829dupTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG3_chr16_24251335_24367412	24252666	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02165.hp1 HG02886.hp2 others(13): Show HG01358.hp1 HG02165.hp1 HG02886.hp2 HG03209.hp1 HG03486.hp1 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp1 NA18970.hp2 NA18981.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp1 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0212 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0003g0202	16	366	0.0437	11	c.-40 others(22): Show c.-4089_-4088insTTTTTTTTTTT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding		3668		chr16	TogoVar
CACNG3_chr16_24251335_24367412	24312952	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	366	0.0027	11	c.212 others(30): Show c.212-33778_212-33777insAAGAAAGAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317648	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03239.hp2 HG01515.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0309 a0001c0001t0002g0154 a0001c0001t0001g0309 a0001c0001t0002g0154	2	366	0.0055	11	c.212 others(30): Show c.212-29084_212-29083insGAAAGAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar

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