Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1B_chr9_137872782_138129619	137924299	G G	GCCTTCCT others(5): Show GCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	12	c.966 others(29): Show c.966+6874_966+6885dupCTTCCTTCCTTC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG02615.hp2 others(3): Show HG01433.hp2 HG01884.hp1 HG02615.hp2 HG02895.hp1 HG02970.hp2 NA18522.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0018	a0002c0004 a0004c0025 a0004c0055 others(2): Show a0002c0004 a0004c0025 a0004c0055 a0006c0014 a0018c0046	a0002c0004t0001 a0004c0025t0013 a0004c0025t0022 others(3): Show a0002c0004t0001 a0004c0025t0013 a0004c0025t0022 a0004c0055t0022 a0006c0014t0006 a0018c0046t0016	a0002c0004t0001g0175 a0004c0025t0013g0217 a0004c0025t0022g0010 others(3): Show a0002c0004t0001g0175 a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0055t0022g0009 a0006c0014t0006g0143 a0018c0046t0016g0110	6	248	0.0242	12	c.107 others(29): Show c.1071-829_1071-818dupTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954879	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0004 a0004	a0004c0042 a0004c0054 a0004c0042 a0004c0054	a0004c0042t0008 a0004c0054t0008 a0004c0042t0008 a0004c0054t0008	a0004c0042t0008g0121 a0004c0054t0008g0013 a0004c0042t0008g0121 a0004c0054t0008g0013	2	248	0.0081	12	c.107 others(29): Show c.1071-818_1071-817insTGTGTGTGTGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(5): Show AAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0036 a0004c0029t0036	a0004c0029t0036g0206 a0004c0029t0036g0206	1	248	0.0040	12	c.509 others(31): Show c.5095-2025_5095-2024insAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138107218	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0159 a0002c0001t0002g0159	1	248	0.0040	12	c.542 others(31): Show c.5428+1449_5428+1460dupTTATTTATTTAT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2067449	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18966.hp2 HG02886.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0003 a0001c0022t0014 a0001c0002t0003 a0001c0022t0014	a0001c0002t0003g0056 a0001c0022t0014g0050 a0001c0002t0003g0056 a0001c0022t0014g0050	2	104	0.0192	12	c.49+ others(29): Show c.49+13860_49+13871dupTGTGTGTGTGTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2067481	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG02572.hp2 others(1): Show HG01106.hp2 HG02451.hp1 HG02572.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0013 a0001c0001t0024 a0001c0005t0026 others(1): Show a0001c0001t0013 a0001c0001t0024 a0001c0005t0026 a0001c0007t0006	a0001c0001t0013g0014 a0001c0001t0024g0080 a0001c0005t0026g0079 others(1): Show a0001c0001t0013g0014 a0001c0001t0024g0080 a0001c0005t0026g0079 a0001c0007t0006g0074	4	104	0.0385	12	c.49+ others(29): Show c.49+13871_49+13872insTGTGTGTGCGCG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2067481	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp2 HG03239.hp1 others(2): Show HG02055.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp2 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0001c0036 a0006c0028	a0001c0001t0021 a0001c0004t0036 a0001c0010t0008 others(2): Show a0001c0001t0021 a0001c0004t0036 a0001c0010t0008 a0001c0036t0007 a0006c0028t0006	a0001c0001t0021g0055 a0001c0004t0036g0099 a0001c0010t0008g0064 others(2): Show a0001c0001t0021g0055 a0001c0004t0036g0099 a0001c0010t0008g0064 a0001c0036t0007g0100 a0006c0028t0006g0072	5	104	0.0481	12	c.49+ others(29): Show c.49+13871_49+13872insTGTGTGTGTGCG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071140	T T	TCCTCCCT others(5): Show TCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	104	0.0096	12	c.49+ others(29): Show c.49+17553_49+17564dupCCCTCCCTCCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071164	C C	CCCTTCCT others(5): Show CCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0034 a0001c0001t0015g0034	1	104	0.0096	12	c.49+ others(29): Show c.49+17556_49+17557insTCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(5): Show CCCTCCCTCCCTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	104	0.0096	12	c.49+ others(29): Show c.49+17564_49+17565insCCCTCCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(5): Show CCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0031 a0001c0003t0005g0031	1	104	0.0096	12	c.49+ others(29): Show c.49+17564_49+17565insCCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(5): Show CCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp2 others(4): Show HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG03471.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0029 others(1): Show a0001c0001 a0001c0021 a0001c0029 a0001c0038	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0043 a0001c0021t0027 a0001c0029t0019 a0001c0038t0041	a0001c0001t0002g0027 a0001c0001t0005g0042 a0001c0001t0015g0030 others(4): Show a0001c0001t0002g0027 a0001c0001t0005g0042 a0001c0001t0015g0030 a0001c0001t0043g0032 a0001c0021t0027g0087 a0001c0029t0019g0060 a0001c0038t0041g0047	7	104	0.0673	12	c.49+ others(29): Show c.49+17564_49+17565insCCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTGCCT others(5): Show CCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 NA21309.hp2 HG02723.hp2 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0012 a0001c0001 a0001c0011 a0001c0012	a0001c0001t0004 a0001c0011t0014 a0001c0012t0007 a0001c0001t0004 a0001c0011t0014 a0001c0012t0007	a0001c0001t0004g0008 a0001c0011t0014g0007 a0001c0012t0007g0046 a0001c0001t0004g0008 a0001c0011t0014g0007 a0001c0012t0007g0046	3	104	0.0289	12	c.49+ others(29): Show c.49+17589_49+17600dupGCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120656	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0025 a0003c0035t0025	a0003c0035t0025g0078 a0003c0035t0025g0078	1	104	0.0096	12	c.477 others(27): Show c.477+256_477+267dupGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120692	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0055 a0001c0001t0021g0055	1	104	0.0096	12	c.477 others(27): Show c.477+267_477+268insGTGTGTTTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	C C	CCCTCCCT others(5): Show CCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0025 a0003c0035t0025	a0003c0035t0025g0078 a0003c0035t0025g0078	1	104	0.0096	12	c.477 others(31): Show c.477+57160_477+57161insCCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0006 a0001c0037t0006	a0001c0037t0006g0025 a0001c0037t0006g0025	1	104	0.0096	12	c.477 others(31): Show c.477+57187_477+57198dupCTTCCTTCCTTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177634	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp2 others(2): Show HG02145.hp1 HG02280.hp1 HG02572.hp2 HG02723.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0029 others(2): Show a0001c0001 a0001c0004 a0001c0029 a0002c0013 a0002c0040	a0001c0001t0013 a0001c0004t0004 a0001c0029t0019 others(2): Show a0001c0001t0013 a0001c0004t0004 a0001c0029t0019 a0002c0013t0016 a0002c0040t0016	a0001c0001t0013g0014 a0001c0004t0004g0086 a0001c0029t0019g0060 others(2): Show a0001c0001t0013g0014 a0001c0004t0004g0086 a0001c0029t0019g0060 a0002c0013t0016g0022 a0002c0040t0016g0073	5	104	0.0481	12	c.477 others(31): Show c.477+57214_477+57225dupCTTTCTTTCTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378779	G G	GTCCTTCC others(5): Show GTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0032 a0001c0001t0043g0032	1	104	0.0096	12	c.478 others(31): Show c.478-70168_478-70157dupTCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378817	C C	CCTTCCTT others(5): Show CCTTCCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp2 HG06807.hp1 HG02723.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0011 a0001c0002 a0001c0006 a0001c0011	a0001c0002t0001 a0001c0006t0001 a0001c0011t0014 a0001c0002t0001 a0001c0006t0001 a0001c0011t0014	a0001c0002t0001g0036 a0001c0006t0001g0102 a0001c0011t0014g0007 a0001c0002t0001g0036 a0001c0006t0001g0102 a0001c0011t0014g0007	3	104	0.0289	12	c.478 others(31): Show c.478-70157_478-70156insTCCTTCCTCTCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2420102	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03486.hp2 HG04115.hp2 others(1): Show HG01993.hp2 HG03486.hp2 HG04115.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0014 others(1): Show a0001c0002 a0001c0006 a0001c0014 a0001c0036	a0001c0002t0001 a0001c0006t0003 a0001c0014t0032 others(1): Show a0001c0002t0001 a0001c0006t0003 a0001c0014t0032 a0001c0036t0007	a0001c0002t0001g0092 a0001c0006t0003g0069 a0001c0014t0032g0023 others(1): Show a0001c0002t0001g0092 a0001c0006t0003g0069 a0001c0014t0032g0023 a0001c0036t0007g0100	4	104	0.0385	12	c.478 others(31): Show c.478-28839_478-28828dupGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2420145	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0053 a0001c0003t0044g0053	1	104	0.0096	12	c.478 others(31): Show c.478-28828_478-28827insGTGTGTGTCTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2438343	G G	GATGGTGG others(5): Show GATGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0003 a0001c0026t0003	a0001c0026t0003g0066 a0001c0026t0003g0066	1	104	0.0096	12	c.478 others(31): Show c.478-10630_478-10629insGTGGTGGTAATG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2438365	G G	GTGGTGGT others(5): Show GTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02257.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0029 a0001c0003t0005 a0001c0002t0029 a0001c0003t0005	a0001c0002t0029g0037 a0001c0003t0005g0031 a0001c0002t0029g0037 a0001c0003t0005g0031	2	104	0.0192	12	c.478 others(31): Show c.478-10603_478-10592dupGGTGATGGTGGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2446199	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03471.hp2 others(1): Show HG02055.hp2 HG03041.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0021 a0001c0001 a0001c0004 a0001c0021	a0001c0001t0001 a0001c0001t0015 a0001c0004t0004 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0004t0004 a0001c0021t0027	a0001c0001t0001g0029 a0001c0001t0015g0030 a0001c0004t0004g0086 others(1): Show a0001c0001t0001g0029 a0001c0001t0015g0030 a0001c0004t0004g0086 a0001c0021t0027g0087	4	104	0.0385	12	c.478 others(29): Show c.478-2753_478-2742dupATGGATGGATGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2446199	G G	GTGGGTGG others(5): Show GTGGGTGGATGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03239.hp1 HG00140.hp2 HG03239.hp1	a0001 a0001	a0001c0010 a0001c0019 a0001c0010 a0001c0019	a0001c0010t0008 a0001c0019t0003 a0001c0010t0008 a0001c0019t0003	a0001c0010t0008g0064 a0001c0019t0003g0071 a0001c0010t0008g0064 a0001c0019t0003g0071	2	104	0.0192	12	c.478 others(29): Show c.478-2774_478-2773insGTGGATGGATGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG01993.hp1 others(1): Show HG01071.hp2 HG01496.hp1 HG01993.hp1 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0008 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0008 a0001c0003t0010	a0001c0002t0001g0092 a0001c0002t0003g0065 a0001c0003t0008g0059 others(1): Show a0001c0002t0001g0092 a0001c0002t0003g0065 a0001c0003t0008g0059 a0001c0003t0010g0019	4	104	0.0385	12	c.111 others(31): Show c.1113+4606_1113+4617dupCACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG03098.hp1 others(2): Show HG01496.hp1 HG02040.hp1 HG03098.hp1 HG03139.hp2 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(1): Show a0001c0003 a0001c0005 a0001c0006 a0001c0015	a0001c0003t0002 a0001c0003t0010 a0001c0005t0002 others(2): Show a0001c0003t0002 a0001c0003t0010 a0001c0005t0002 a0001c0006t0001 a0001c0015t0034	a0001c0003t0002g0045 a0001c0003t0010g0019 a0001c0005t0002g0090 others(2): Show a0001c0003t0002g0045 a0001c0003t0010g0019 a0001c0005t0002g0090 a0001c0006t0001g0102 a0001c0015t0034g0075	5	104	0.0481	12	c.139 others(33): Show c.1391-14221_1391-14210dupAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520849	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01074.hp1 others(4): Show HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01496.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0001t0048 a0001c0001t0075 others(3): Show a0001c0001t0003 a0001c0001t0048 a0001c0001t0075 a0001c0003t0003 a0001c0003t0014 a0001c0006t0001	a0001c0001t0003g0113 a0001c0001t0003g0128 a0001c0001t0048g0086 others(4): Show a0001c0001t0003g0113 a0001c0001t0003g0128 a0001c0001t0048g0086 a0001c0001t0075g0009 a0001c0003t0003g0094 a0001c0003t0014g0022 a0001c0006t0001g0151	7	210	0.0333	12	c.483 others(31): Show c.483+19166_483+19177dupCTTTCTTTCTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53529729	T T	TCATACCA others(5): Show TCATACCAGAGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 NA21309.hp2 HG02258.hp1 HG02486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0014 a0001c0002t0006 a0001c0009t0076 a0001c0001t0014 a0001c0002t0006 a0001c0009t0076	a0001c0001t0014g0031 a0001c0002t0006g0180 a0001c0009t0076g0032 a0001c0001t0014g0031 a0001c0002t0006g0180 a0001c0009t0076g0032	3	210	0.0143	12	c.483 others(31): Show c.483+28009_483+28010insCATACCAGAGTA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48			chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53538141	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 NA19030.hp1 others(1): Show HG02280.hp2 HG03453.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0025 a0001c0001 a0001c0002 a0001c0025	a0001c0001t0073 a0001c0002t0010 a0001c0002t0060 others(1): Show a0001c0001t0073 a0001c0002t0010 a0001c0002t0060 a0001c0025t0080	a0001c0001t0073g0203 a0001c0002t0010g0195 a0001c0002t0060g0144 others(1): Show a0001c0001t0073g0203 a0001c0002t0010g0195 a0001c0002t0060g0144 a0001c0025t0080g0041	4	210	0.0191	12	c.483 others(31): Show c.483+36436_483+36447dupTTTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53543121	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 NA18522.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0014 a0001c0002 a0001c0009 a0001c0014	a0001c0002t0036 a0001c0009t0017 a0001c0014t0002 a0001c0002t0036 a0001c0009t0017 a0001c0014t0002	a0001c0002t0036g0202 a0001c0009t0017g0085 a0001c0014t0002g0114 a0001c0002t0036g0202 a0001c0009t0017g0085 a0001c0014t0002g0114	3	210	0.0143	12	c.483 others(31): Show c.483+41412_483+41413insTAAATAAATAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53648829	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0079 a0001c0024t0079	a0001c0024t0079g0040 a0001c0024t0079g0040	1	210	0.0048	12	c.484 others(29): Show c.484-1928_484-1917dupCACACACACACA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp1 HG03041.hp1 HG01070.hp1 HG01891.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0009 a0001c0001t0017 a0001c0002t0009	a0001c0001t0017g0110 a0001c0002t0009g0107 a0001c0002t0009g0210 a0001c0001t0017g0110 a0001c0002t0009g0107 a0001c0002t0009g0210	3	210	0.0143	12	c.623 others(27): Show c.623+459_623+470dupTTTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02602.hp1 HG01175.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0061 a0001c0003t0003g0053 a0001c0001t0002g0061 a0001c0003t0003g0053	2	210	0.0095	12	c.111 others(29): Show c.1117-905_1117-894dupGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0071 a0001c0023t0077 a0001c0001t0071 a0001c0023t0077	a0001c0001t0071g0034 a0001c0023t0077g0200 a0001c0001t0071g0034 a0001c0023t0077g0200	2	210	0.0095	12	c.139 others(31): Show c.1391-4757_1391-4756insTGTGTGTGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53747781	C C	CCATTCAT others(5): Show CCATTCATTCATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0021 a0001c0002t0013g0021	1	210	0.0048	12	c.337 others(29): Show c.3374+359_3374+370dupATTCATTCATTC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	27/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782260	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0026 a0001c0011t0026	a0001c0011t0026g0030 a0001c0011t0026g0030	1	210	0.0048	12	c.485 others(29): Show c.4852+594_4852+595insATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782262	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG03471.hp1 others(3): Show HG01884.hp1 HG02922.hp2 HG03471.hp1 NA18906.hp1 NA18977.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0024	a0001c0001t0002 a0001c0002t0018 a0001c0002t0030 others(3): Show a0001c0001t0002 a0001c0002t0018 a0001c0002t0030 a0001c0009t0017 a0001c0009t0076 a0001c0024t0079	a0001c0001t0002g0064 a0001c0002t0018g0029 a0001c0002t0030g0196 others(3): Show a0001c0001t0002g0064 a0001c0002t0018g0029 a0001c0002t0030g0196 a0001c0009t0017g0085 a0001c0009t0076g0032 a0001c0024t0079g0040	6	210	0.0286	12	c.485 others(29): Show c.4852+596_4852+597insATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG04199.hp2 others(5): Show HG02723.hp1 HG02976.hp2 HG04199.hp2 NA18906.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0029 a0001c0001t0043 others(4): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0043 a0001c0001t0075 a0001c0002t0055 a0001c0003t0001 a0001c0009t0029	a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0029g0143 others(5): Show a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0029g0143 a0001c0001t0043g0083 a0001c0001t0075g0009 a0001c0002t0055g0013 a0001c0003t0001g0140 a0001c0009t0029g0185	8	210	0.0381	12	c.485 others(29): Show c.4852+615_4852+626dupATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02273.hp2 HG02809.hp2 others(5): Show HG01978.hp2 HG02273.hp2 HG02809.hp2 NA18963.hp1 NA18983.hp2 NA18994.hp1 NA19074.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(1): Show a0001c0003 a0001c0004 a0001c0006 a0001c0012	a0001c0003t0058 a0001c0004t0001 a0001c0004t0008 others(3): Show a0001c0003t0058 a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 a0001c0006t0001 a0001c0012t0006	a0001c0003t0058g0178 a0001c0004t0001g0150 a0001c0004t0001g0152 others(5): Show a0001c0003t0058g0178 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0008g0082 a0001c0004t0011g0145 a0001c0004t0011g0153 a0001c0006t0001g0133 a0001c0012t0006g0132	8	210	0.0381	12	c.485 others(29): Show c.4852+598_4852+599insGTATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20905.hp1 HG02572.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0034 a0001c0013t0050 a0001c0002t0034 a0001c0013t0050	a0001c0002t0034g0183 a0001c0013t0050g0095 a0001c0002t0034g0183 a0001c0013t0050g0095	2	210	0.0095	12	c.485 others(29): Show c.4852+598_4852+599insGTGTATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG01074.hp1 others(32): Show HG00140.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02735.hp2 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03540.hp1 NA18747.hp2 NA18963.hp1 NA18977.hp1 NA18994.hp1 NA19004.hp2 NA19012.hp2 NA19074.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0002t0006 a0001c0002t0010 a0001c0002t0019 a0001c0002t0034 a0001c0002t0063 a0001c0002t0065 a0001c0002t0070 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0024 a0001c0005t0009 a0001c0006t0001 a0001c0006t0002 a0001c0011t0026 a0001c0025t0080	a0001c0001t0002g0064 a0001c0001t0004g0160 a0001c0001t0022g0056 others(32): Show a0001c0001t0002g0064 a0001c0001t0004g0160 a0001c0001t0022g0056 a0001c0002t0006g0180 a0001c0002t0010g0190 a0001c0002t0019g0115 a0001c0002t0034g0183 a0001c0002t0063g0191 a0001c0002t0065g0201 a0001c0002t0070g0043 a0001c0003t0001g0146 a0001c0003t0001g0164 a0001c0003t0003g0053 a0001c0003t0003g0057 a0001c0003t0003g0074 a0001c0003t0003g0094 a0001c0003t0003g0106 a0001c0003t0004g0155 a0001c0003t0008g0073 a0001c0003t0049g0068 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0002g0070 a0001c0004t0004g0147 a0001c0004t0008g0082 a0001c0004t0008g0101 a0001c0004t0011g0145 a0001c0004t0011g0170 a0001c0004t0024g0090 a0001c0005t0009g0080 a0001c0006t0001g0151 a0001c0006t0002g0072 a0001c0006t0002g0100 a0001c0011t0026g0030 a0001c0025t0080g0041	35	210	0.1667	12	c.498 others(29): Show c.4983+491_4983+502dupGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181481335	T T	TACACACA others(5): Show TACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0045 a0001c0004t0045	a0001c0004t0045g0047 a0001c0004t0045g0047	1	206	0.0049	12	c.-24 others(23): Show c.-2410_-2409insACACACACACAC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding		2181		chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181508147	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG00642.hp2 others(15): Show HG00408.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01517.hp1 HG01978.hp1 HG02015.hp2 HG02280.hp2 HG02630.hp2 HG02698.hp2 NA18942.hp1 NA18964.hp2 NA19030.hp2 NA19085.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0006 a0001c0009 others(5): Show a0001c0001 a0001c0006 a0001c0009 a0002c0002 a0002c0030 a0003c0003 a0004c0007 a0010c0023	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0006t0004 a0001c0009t0040 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0002c0002t0021 a0002c0002t0028 a0002c0030t0079 a0003c0003t0001 a0004c0007t0001 a0004c0007t0023 a0004c0007t0046 a0010c0023t0077	a0001c0001t0002g0001 a0001c0001t0005g0015 a0001c0001t0012g0005 others(15): Show a0001c0001t0002g0001 a0001c0001t0005g0015 a0001c0001t0012g0005 a0001c0001t0014g0142 a0001c0006t0004g0014 a0001c0006t0004g0019 a0001c0009t0040g0141 a0002c0002t0001g0022 a0002c0002t0002g0155 a0002c0002t0015g0017 a0002c0002t0021g0010 a0002c0002t0028g0021 a0002c0030t0079g0006 a0003c0003t0001g0009 a0004c0007t0001g0016 a0004c0007t0023g0011 a0004c0007t0046g0007 a0010c0023t0077g0008	18	206	0.0874	12	c.267 others(29): Show c.267-2313_267-2302dupTGTGTGTGTGTG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181596557	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp2 HG01261.hp1 others(7): Show HG00609.hp2 HG00741.hp2 HG01261.hp1 HG01975.hp2 HG02071.hp2 HG02300.hp2 HG03239.hp1 HG04199.hp1 HG04199.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0020 a0002c0002 others(1): Show a0001c0001 a0001c0020 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0001t0006 a0001c0020t0031 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0020t0031 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0057 a0003c0003t0001	a0001c0001t0004g0146 a0001c0001t0006g0189 a0001c0020t0031g0074 others(7): Show a0001c0001t0004g0146 a0001c0001t0006g0189 a0001c0020t0031g0074 a0002c0002t0002g0143 a0002c0002t0002g0184 a0002c0002t0002g0191 a0002c0002t0003g0157 a0002c0002t0007g0069 a0002c0002t0057g0168 a0003c0003t0001g0147	10	206	0.0485	12	c.951 others(31): Show c.951+15810_951+15821dupGTGTGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181686275	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03704.hp2 HG03471.hp2 HG03704.hp2	a0001 a0001	a0001c0004 a0001c0022 a0001c0004 a0001c0022	a0001c0004t0008 a0001c0022t0056 a0001c0004t0008 a0001c0022t0056	a0001c0004t0008g0032 a0001c0022t0056g0176 a0001c0004t0008g0032 a0001c0022t0056g0176	2	206	0.0097	12	c.105 others(33): Show c.1056-24662_1056-24651dupTTTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181686283	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01099.hp2 others(11): Show HG00323.hp1 HG00642.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01993.hp2 HG02071.hp1 HG02273.hp1 HG03017.hp2 HG03492.hp2 HG03834.hp1 HG06807.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002 a0009c0021	a0001c0001t0016 a0001c0001t0033 a0001c0004t0002 others(6): Show a0001c0001t0016 a0001c0001t0033 a0001c0004t0002 a0001c0004t0004 a0001c0004t0016 a0001c0004t0045 a0001c0011t0004 a0002c0002t0007 a0009c0021t0002	a0001c0001t0016g0181 a0001c0001t0033g0088 a0001c0004t0002g0101 others(11): Show a0001c0001t0016g0181 a0001c0001t0033g0088 a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0001c0004t0004g0072 a0001c0004t0004g0137 a0001c0004t0004g0185 a0001c0004t0016g0198 a0001c0004t0045g0047 a0001c0011t0004g0091 a0001c0011t0004g0206 a0002c0002t0007g0090 a0009c0021t0002g0098	14	206	0.0680	12	c.105 others(33): Show c.1056-24660_1056-24659insGTTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0056 a0001c0022t0056	a0001c0022t0056g0176 a0001c0022t0056g0176	1	206	0.0049	12	c.526 others(31): Show c.5268-1588_5268-1577dupCACACACACACA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)