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
CACNA1F_chrX_49200063_49238340	49235862	C C	CGCACACA others(6): Show CGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	290	0.0035	13	c.-25 others(24): Show c.-2554_-2553insTGTGTGTGTGTGC	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2523		chrX	TogoVar
CACNA1I_chr22_39565753_39694735	39596323	G G	GGGCGGAG others(6): Show GGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show HG00639.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp2 HG02622.hp1 HG02896.hp2 HG03098.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0001c0020 a0001c0026 others(2): Show a0001c0014 a0001c0020 a0001c0026 a0003c0008 a0003c0024	a0001c0014t0012 a0001c0020t0001 a0001c0026t0056 others(3): Show a0001c0014t0012 a0001c0020t0001 a0001c0026t0056 a0003c0008t0005 a0003c0008t0006 a0003c0024t0005	a0001c0014t0012g0126 a0001c0020t0001g0176 a0001c0026t0056g0071 others(5): Show a0001c0014t0012g0126 a0001c0020t0001g0176 a0001c0026t0056g0071 a0003c0008t0005g0177 a0003c0008t0006g0093 a0003c0008t0006g0094 a0003c0024t0005g0174 a0003c0024t0005g0175	8	236	0.0339	13	c.237 others(30): Show c.237-1821_237-1820insAGAGATGGCGGAG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601928	T T	TCCCTCCC others(6): Show TCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp1 HG02280.hp1 others(10): Show HG00140.hp2 HG02145.hp1 HG02280.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0014 a0001c0027 a0002c0003 others(3): Show a0001c0014 a0001c0027 a0002c0003 a0002c0025 a0002c0031 a0012c0021	a0001c0014t0001 a0001c0027t0015 a0002c0003t0001 others(5): Show a0001c0014t0001 a0001c0027t0015 a0002c0003t0001 a0002c0003t0009 a0002c0003t0010 a0002c0025t0001 a0002c0031t0003 a0012c0021t0022	a0001c0014t0001g0045 a0001c0027t0015g0092 a0002c0003t0001g0048 others(10): Show a0001c0014t0001g0045 a0001c0027t0015g0092 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0073 a0002c0003t0009g0054 a0002c0003t0010g0047 a0002c0025t0001g0090 a0002c0025t0001g0091 a0002c0031t0003g0080 a0002c0031t0003g0081 a0012c0021t0022g0087	13	236	0.0551	13	c.482 others(30): Show c.482+1277_482+1278insCTCCCTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201036033	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	314	0.0032	13	c.37 others(24): Show c.3797_*3798insCACACACACACAC	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3478		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201046174	A A	ATTTATTT others(6): Show ATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	314	0.0032	13	c.466 others(30): Show c.4668+940_4668+941insATAAATAAATAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	38/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056082	C C	CACACACA others(6): Show CACACACACACAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	314	0.0032	13	c.361 others(32): Show c.3610-1522_3610-1521insATTGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82060150	G G	GTATTATA others(6): Show GTATTATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02886.hp1 HG02970.hp2 others(5): Show HG00639.hp2 HG02886.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001	a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0078 others(5): Show a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0012g0102 a0001c0002t0001g0064	8	144	0.0556	13	c.879 others(28): Show c.879+265_879+277dupTATATATATAATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060167	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	144	0.0069	13	c.879 others(28): Show c.879+260_879+261insTATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060211	A A	ATTATATA others(6): Show ATTATATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01169.hp1 others(21): Show HG00642.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02922.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18961.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0050 a0001c0001t0005g0096 a0001c0001t0005g0110 a0001c0001t0005g0136 a0001c0001t0006g0115 a0001c0001t0006g0124 a0001c0001t0007g0015 a0001c0001t0009g0027 a0001c0001t0010g0089 a0001c0001t0011g0066 a0001c0002t0001g0057 a0001c0007t0003g0075	24	144	0.1667	13	c.879 others(28): Show c.879+216_879+217insAATATATATATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	144	0.0069	13	c.355 others(30): Show c.355-1044_355-1032dupTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02559.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0070 a0001c0001t0008g0073 a0001c0001t0001g0070 a0001c0001t0008g0073	2	144	0.0139	13	c.295 others(32): Show c.295-10445_295-10433dupAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82185475	G G	GGGGAGGG others(6): Show GGGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG04184.hp1 HG02148.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0140 a0001c0001t0005g0099 a0001c0001t0002g0140 a0001c0001t0005g0099	2	144	0.0139	13	c.295 others(32): Show c.295-14867_295-14866insTCCTCCCCCTCCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	144	0.0069	13	c.294 others(32): Show c.294+38050_294+38062dupTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82363254	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 HG01891.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0098 a0001c0001t0021g0113 a0001c0001t0006g0098 a0001c0001t0021g0113	2	144	0.0139	13	c.96- others(30): Show c.96-13618_96-13606dupAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG00642.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0034 a0001c0002t0001g0033 a0001c0001t0003g0034 a0001c0002t0001g0033	2	144	0.0139	13	c.96- others(30): Show c.96-17267_96-17255dupAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG03139.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0001g0087 a0001c0001t0003g0086 a0001c0001t0003g0088	3	144	0.0208	13	c.95+ others(30): Show c.95+11315_95+11327dupTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18951.hp1 HG02622.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0002t0001g0079 a0001c0001t0001g0061 a0001c0002t0001g0079	2	118	0.0170	13	c.204 others(32): Show c.204+47552_204+47564dupTTTTTTTTTTTTT	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(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02630.hp2 others(5): Show HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 others(3): Show a0001c0001 a0001c0005 a0001c0010 a0001c0026 a0001c0031 a0001c0032	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0010t0003 a0001c0026t0009 a0001c0031t0001 a0001c0032t0001	a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0003g0058 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0003g0058 a0001c0005t0001g0052 a0001c0010t0003g0057 a0001c0026t0009g0073 a0001c0031t0001g0032 a0001c0032t0001g0048	8	118	0.0678	13	c.205 others(32): Show c.205-68340_205-68328dupTTTTTTTTTTTTT	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(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	118	0.0085	13	c.321 others(32): Show c.321+30411_321+30423dupTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54388685	T T	TCACATGA others(6): Show TCACATGATTGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01070.hp2 others(27): Show HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01258.hp2 HG01934.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG04115.hp1 HG04204.hp2 NA18951.hp2 NA18979.hp1 NA19043.hp1 NA19068.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0024 a0001c0032 a0001c0035 a0001c0036 a0001c0039 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(20): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 a0001c0010t0001 a0001c0010t0006 a0001c0011t0006 a0001c0012t0011 a0001c0015t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0002 a0001c0022t0001 a0001c0024t0001 a0001c0032t0001 a0001c0035t0001 a0001c0036t0005 a0001c0039t0001 a0001c0040t0001	a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0068 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0118 a0001c0002t0001g0004 a0001c0002t0002g0066 a0001c0003t0001g0011 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0110 a0001c0004t0001g0031 a0001c0005t0001g0005 a0001c0005t0001g0111 a0001c0005t0003g0055 a0001c0007t0001g0043 a0001c0010t0001g0065 a0001c0010t0006g0062 a0001c0011t0006g0056 a0001c0012t0011g0036 a0001c0015t0001g0108 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0024t0001g0069 a0001c0032t0001g0048 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0039t0001g0047 a0001c0040t0001g0117	30	118	0.2542	13	c.381 others(30): Show c.381+1915_381+1916insTGATTGCTCCACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54412610	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02622.hp1 HG02922.hp2 others(5): Show HG00280.hp1 HG02622.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 NA18951.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0038	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0015t0001 a0001c0038t0010	a0001c0001t0003g0058 a0001c0002t0001g0079 a0001c0003t0001g0026 others(5): Show a0001c0001t0003g0058 a0001c0002t0001g0079 a0001c0003t0001g0026 a0001c0004t0001g0022 a0001c0004t0001g0095 a0001c0011t0001g0099 a0001c0015t0001g0072 a0001c0038t0010g0059	8	118	0.0678	13	c.381 others(32): Show c.381+25847_381+25848insTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822773	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0103 a0001c0008t0001g0103	1	118	0.0085	13	c.139 others(32): Show c.1398+5904_1398+5916dupCTTTCTTTCTTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTCT others(6): Show CTTTCTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	118	0.0085	13	c.139 others(32): Show c.1398+5920_1398+5921insTTTCTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(6): Show CTTTCTTTCTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0025 a0001c0017t0001g0025	1	118	0.0085	13	c.139 others(32): Show c.1398+5920_1398+5921insTTTCTTTCTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54832011	T T	TCATACAC others(6): Show TCATACACACAGCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0093 a0001c0013t0001g0093	1	118	0.0085	13	c.139 others(32): Show c.1399-5146_1399-5145insTACACACAGCACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883823	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02965.hp1 others(3): Show HG02486.hp1 HG02572.hp1 HG02965.hp1 HG02970.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0002t0001g0070 a0001c0009t0001g0013	6	118	0.0509	13	c.191 others(32): Show c.1913-1458_1913-1457insTCTCTCTCTCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54911351	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp1 HG02280.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0087 a0001c0007t0001g0067 a0001c0001t0001g0087 a0001c0007t0001g0067	2	118	0.0170	13	c.244 others(34): Show c.2449+11493_2449+11505dupTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1820246	C C	CGGCGGGG others(6): Show CGGCGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0165 a0001c0001t0008g0165	1	318	0.0031	13	c.255 others(32): Show c.2552-8524_2552-8523insCCCCCGCCCCGCC	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	26/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1851651	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	318	0.0031	13	c.224 others(32): Show c.2246+2299_2246+2300insCACACACACACAC	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	23/37			chr12	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp2 others(6): Show HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01891.hp1 HG01981.hp2 HG02293.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0037 a0001c0002t0002	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0199 others(6): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0199 a0001c0001t0007g0189 a0001c0001t0011g0055 a0001c0001t0012g0198 a0001c0001t0037g0194 a0001c0002t0002g0183 a0001c0002t0002g0184	9	200	0.0450	13	c.-36 others(24): Show c.-3653_-3652insTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG01167.hp2 HG01169.hp1 others(7): Show HG00423.hp2 HG01167.hp2 HG01169.hp1 HG02886.hp2 HG02922.hp2 NA18973.hp1 NA18985.hp2 NA19009.hp1 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0050 a0001c0002t0002 a0001c0002t0005 a0001c0004t0038	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0030 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0030 a0001c0001t0003g0044 a0001c0001t0007g0039 a0001c0001t0050g0040 a0001c0002t0002g0041 a0001c0002t0005g0038 a0001c0002t0005g0200 a0001c0004t0038g0139	10	200	0.0500	13	c.121 others(25): Show c.121-15_121-3dupTTTTTTTTTTTTT	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(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01358.hp1 HG01516.hp1 others(5): Show HG01258.hp1 HG01358.hp1 HG01516.hp1 HG02280.hp2 HG02647.hp2 HG03491.hp2 HG03492.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0028 a0001c0001t0033 a0001c0002t0002 a0001c0002t0026	a0001c0001t0001g0008 a0001c0001t0003g0080 a0001c0001t0018g0014 others(5): Show a0001c0001t0001g0008 a0001c0001t0003g0080 a0001c0001t0018g0014 a0001c0001t0028g0013 a0001c0001t0033g0130 a0001c0002t0002g0069 a0001c0002t0002g0147 a0001c0002t0026g0015	8	200	0.0400	13	c.213 others(32): Show c.213+20562_213+20574dupAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18171543	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02109.hp1 others(4): Show HG01243.hp2 HG01884.hp2 HG02109.hp1 HG02717.hp1 HG02965.hp1 HG03225.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0015 a0002c0003t0013 a0002c0003t0053	a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0006g0023 others(4): Show a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0006g0023 a0001c0002t0015g0018 a0001c0002t0015g0019 a0002c0003t0013g0022 a0002c0003t0053g0027	7	200	0.0350	13	c.213 others(32): Show c.213+20574_213+20575insAAAAAAGAAAAAA	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	200	0.0050	13	c.213 others(32): Show c.213+21952_213+21964dupTTTTTTTTTTTTT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0120 a0001c0001t0032g0120	1	200	0.0050	13	c.214 others(32): Show c.214-93926_214-93914dupTTTTTTTTTTTTT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01433.hp2 HG01496.hp1 others(5): Show HG01069.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG02148.hp1 HG03704.hp2 NA18983.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0041 a0002c0003t0014 a0002c0003t0056	a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0004g0165 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0004g0165 a0001c0001t0009g0177 a0001c0001t0041g0074 a0002c0003t0014g0078 a0002c0003t0014g0111 a0002c0003t0056g0053	8	200	0.0400	13	c.333 others(30): Show c.333+5085_333+5097dupTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0053 a0002c0003t0053	a0002c0003t0053g0027 a0002c0003t0053g0027	1	200	0.0050	13	c.334 others(32): Show c.334-33927_334-33915dupAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAATAA others(6): Show TAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	200	0.0050	13	c.334 others(32): Show c.334-33933_334-33932insTAAAAAAAAAAAA	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(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0109 a0002c0003t0013g0109	1	200	0.0050	13	c.334 others(32): Show c.334-17124_334-17123insATATATATATATT	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(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0162 a0001c0001t0054g0162	1	200	0.0050	13	c.334 others(32): Show c.334-17124_334-17123insATATATATATATA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0110 a0002c0003t0024g0110	1	200	0.0050	13	c.130 others(28): Show c.1302+65_1302+77dupTTTTTTTTTTTTT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01433.hp1 others(6): Show HG00735.hp2 HG01069.hp2 HG01433.hp1 HG01496.hp1 HG02148.hp2 HG03704.hp2 HG03710.hp2 NA18983.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0037 a0002c0003t0009 a0002c0003t0018	a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0171 a0001c0001t0003g0167 a0001c0001t0033g0085 a0001c0001t0037g0195 a0002c0003t0009g0233 a0002c0003t0009g0254 a0002c0003t0018g0266	9	302	0.0298	13	c.171 others(30): Show c.171+5085_171+5097dupTTTTTTTTTTTTT	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(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0067 a0002c0003t0067	a0002c0003t0067g0104 a0002c0003t0067g0104	1	302	0.0033	13	c.172 others(32): Show c.172-33927_172-33915dupAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAATAA others(6): Show TAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	302	0.0033	13	c.172 others(32): Show c.172-33933_172-33932insTAAAAAAAAAAAA	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(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18968.hp2 NA18979.hp2 HG00642.hp1 NA18968.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0065 a0001c0002t0004 a0002c0003t0013 a0001c0001t0065 a0001c0002t0004 a0002c0003t0013	a0001c0001t0065g0172 a0001c0002t0004g0144 a0002c0003t0013g0189 a0001c0001t0065g0172 a0001c0002t0004g0144 a0002c0003t0013g0189	3	302	0.0099	13	c.172 others(32): Show c.172-17124_172-17123insATATATATATATT	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(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19030.hp2 HG02698.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0249 a0001c0002t0004g0194 a0001c0001t0005g0249 a0001c0002t0004g0194	2	302	0.0066	13	c.172 others(32): Show c.172-17124_172-17123insATATATATATATA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02622.hp2 NA19058.hp2 HG01934.hp2 HG02622.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0019 a0002c0003t0023 a0001c0001t0001 a0001c0001t0019 a0002c0003t0023	a0001c0001t0001g0243 a0001c0001t0019g0100 a0002c0003t0023g0239 a0001c0001t0001g0243 a0001c0001t0019g0100 a0002c0003t0023g0239	3	302	0.0099	13	c.114 others(28): Show c.1140+65_1140+77dupTTTTTTTTTTTTT	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(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG01361.hp1 others(12): Show HG00609.hp2 HG01192.hp2 HG01361.hp1 HG02027.hp1 HG02572.hp2 HG02647.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03927.hp1 NA18971.hp2 NA18981.hp1 NA19010.hp1 NA19067.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0040	a0001c0002t0002g0044 a0001c0002t0002g0070 a0001c0002t0002g0147 others(12): Show a0001c0002t0002g0044 a0001c0002t0002g0070 a0001c0002t0002g0147 a0001c0002t0002g0184 a0001c0002t0002g0200 a0001c0002t0002g0218 a0001c0002t0002g0222 a0001c0002t0003g0022 a0001c0002t0003g0093 a0001c0002t0003g0127 a0001c0002t0003g0137 a0001c0002t0003g0160 a0001c0002t0003g0175 a0001c0002t0023g0176 a0001c0002t0040g0166	15	230	0.0652	13	c.759 others(30): Show c.759-1035_759-1023dupTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36625026	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02451.hp1 others(20): Show HG01884.hp1 HG02055.hp2 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19074.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0031 a0001c0001t0050 a0001c0001t0051 a0001c0001t0056 a0001c0001t0061 a0001c0001t0062 a0001c0001t0070 a0001c0001t0094 a0001c0001t0095 a0001c0001t0106	a0001c0001t0001g0082 a0001c0001t0002g0004 a0001c0001t0002g0005 others(20): Show a0001c0001t0001g0082 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0008g0150 a0001c0001t0011g0102 a0001c0001t0011g0104 a0001c0001t0012g0146 a0001c0001t0018g0028 a0001c0001t0018g0036 a0001c0001t0020g0100 a0001c0001t0020g0101 a0001c0001t0031g0012 a0001c0001t0050g0096 a0001c0001t0051g0095 a0001c0001t0056g0105 a0001c0001t0061g0115 a0001c0001t0062g0130 a0001c0001t0070g0136 a0001c0001t0094g0193 a0001c0001t0095g0192 a0001c0001t0106g0207	23	214	0.1075	13	c.212 others(32): Show c.212-37491_212-37479dupTTTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36670630	T T	TTTTTGTT others(6): Show TTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00735.hp1 others(80): Show HG00558.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18946.hp1 NA18961.hp1 NA18963.hp2 NA18975.hp1 NA18979.hp2 NA18986.hp1 NA19002.hp2 NA19030.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0071 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0101 a0001c0001t0108	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0037 others(80): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0003g0145 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0134 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0008g0150 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0010g0055 a0001c0001t0011g0102 a0001c0001t0012g0149 a0001c0001t0015g0043 a0001c0001t0016g0089 a0001c0001t0017g0077 a0001c0001t0018g0028 a0001c0001t0018g0036 a0001c0001t0019g0014 a0001c0001t0020g0100 a0001c0001t0020g0101 a0001c0001t0022g0129 a0001c0001t0022g0132 a0001c0001t0024g0157 a0001c0001t0025g0184 a0001c0001t0027g0061 a0001c0001t0028g0075 a0001c0001t0030g0049 a0001c0001t0032g0040 a0001c0001t0034g0030 a0001c0001t0041g0010 a0001c0001t0044g0016 a0001c0001t0045g0027 a0001c0001t0046g0011 a0001c0001t0050g0096 a0001c0001t0051g0095 a0001c0001t0054g0103 a0001c0001t0056g0105 a0001c0001t0059g0109 a0001c0001t0064g0128 a0001c0001t0065g0117 a0001c0001t0068g0135 a0001c0001t0071g0137 a0001c0001t0077g0140 a0001c0001t0079g0158 a0001c0001t0082g0152 a0001c0001t0087g0186 a0001c0001t0089g0191 a0001c0001t0090g0194 a0001c0001t0092g0190 a0001c0001t0094g0193 a0001c0001t0095g0192 a0001c0001t0097g0199 a0001c0001t0101g0202 a0001c0001t0108g0209	83	214	0.3879	13	c.211 others(32): Show c.211+31735_211+31736insCAAACAAACAAAA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar

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