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
CACNA1A_chr19_13201442_13511479	13510018	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01255.hp1 HG01257.hp2 others(7): Show HG00423.hp1 HG01255.hp1 HG01257.hp2 HG01516.hp2 HG01993.hp2 HG02630.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp2 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0010 a0012 a0037	a0001c0004 a0001c0058 a0001c0096 others(6): Show a0001c0004 a0001c0058 a0001c0096 a0002c0030 a0003c0035 a0007c0009 a0010c0107 a0012c0023 a0037c0087	a0001c0004t0011 a0001c0058t0004 a0001c0096t0025 others(7): Show a0001c0004t0011 a0001c0058t0004 a0001c0096t0025 a0002c0030t0002 a0003c0035t0024 a0007c0009t0034 a0007c0009t0038 a0010c0107t0021 a0012c0023t0003 a0037c0087t0001	a0001c0004t0011g0157 a0001c0058t0004g0083 a0001c0096t0025g0003 others(7): Show a0001c0004t0011g0157 a0001c0058t0004g0083 a0001c0096t0025g0003 a0002c0030t0002g0158 a0003c0035t0024g0005 a0007c0009t0034g0163 a0007c0009t0038g0153 a0010c0107t0021g0004 a0012c0023t0003g0164 a0037c0087t0001g0103	10	218	0.0459	16	c.-38 others(27): Show c.-3810_-3795dupCCTTCCTTCCTTCCTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3540		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0135 a0001c0005t0005g0135	1	218	0.0046	16	c.-38 others(27): Show c.-3812_-3811insCCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02647.hp2 others(5): Show HG02451.hp1 HG02486.hp1 HG02647.hp2 HG02717.hp2 HG03471.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0004 a0009c0021 a0001c0003 a0002c0004 a0009c0021	a0001c0003t0005 a0001c0003t0044 a0002c0004t0001 others(2): Show a0001c0003t0005 a0001c0003t0044 a0002c0004t0001 a0009c0021t0010 a0009c0021t0019	a0001c0003t0005g0006 a0001c0003t0044g0011 a0002c0004t0001g0017 others(5): Show a0001c0003t0005g0006 a0001c0003t0044g0011 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0201 a0009c0021t0010g0004 a0009c0021t0019g0003 a0009c0021t0019g0005	8	248	0.0323	16	c.107 others(33): Show c.1071-833_1071-818dupTGTGTGTGTGTGTGTG	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(9): Show TGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0102 a0001c0015t0002g0102	1	248	0.0040	16	c.107 others(33): Show c.1071-818_1071-817insTGTGTGTGTGTGAGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138052249	C C	CGTGTGTG others(9): Show CGTGTGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG01891.hp2 others(5): Show HG00597.hp1 HG01243.hp2 HG01891.hp2 HG02622.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp1 NA19030.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0005 a0001c0051 a0004c0023 others(3): Show a0001c0005 a0001c0051 a0004c0023 a0004c0042 a0004c0054 a0007c0016	a0001c0005t0004 a0001c0051t0007 a0004c0023t0042 others(3): Show a0001c0005t0004 a0001c0051t0007 a0004c0023t0042 a0004c0042t0008 a0004c0054t0008 a0007c0016t0007	a0001c0005t0004g0089 a0001c0051t0007g0108 a0004c0023t0042g0076 others(5): Show a0001c0005t0004g0089 a0001c0051t0007g0108 a0004c0023t0042g0076 a0004c0042t0008g0121 a0004c0054t0008g0013 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205	8	248	0.0323	16	c.380 others(31): Show c.3807+68_3807+69insCGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	25/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0007 a0007c0016t0007	a0007c0016t0007g0062 a0007c0016t0007g0062	1	248	0.0040	16	c.509 others(35): Show c.5095-2025_5095-2024insAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138112124	T T	TGCATGCA others(9): Show TGCATGCACACACATGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp2 others(24): Show HG00280.hp1 HG00323.hp2 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp1 HG01891.hp1 HG02257.hp2 HG02615.hp1 HG02683.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0020 a0022	a0001c0013 a0001c0015 a0001c0017 others(10): Show a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0044 a0001c0048 a0002c0001 a0002c0033 a0003c0006 a0004c0043 a0006c0014 a0020c0052 a0022c0028	a0001c0013t0009 a0001c0013t0027 a0001c0015t0009 others(11): Show a0001c0013t0009 a0001c0013t0027 a0001c0015t0009 a0001c0017t0006 a0001c0018t0009 a0001c0044t0005 a0001c0048t0006 a0002c0001t0001 a0002c0033t0001 a0003c0006t0001 a0004c0043t0009 a0006c0014t0006 a0020c0052t0006 a0022c0028t0021	a0001c0013t0009g0099 a0001c0013t0009g0203 a0001c0013t0027g0240 others(24): Show a0001c0013t0009g0099 a0001c0013t0009g0203 a0001c0013t0027g0240 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0006g0122 a0001c0018t0009g0029 a0001c0044t0005g0239 a0001c0048t0006g0101 a0002c0001t0001g0036 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0173 a0002c0001t0001g0208 a0002c0001t0001g0214 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0227 a0002c0033t0001g0161 a0003c0006t0001g0147 a0003c0006t0001g0150 a0004c0043t0009g0078 a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0014t0006g0143 a0020c0052t0006g0115 a0022c0028t0021g0156	27	248	0.1089	16	c.542 others(33): Show c.5429-262_5429-261insATGCGCATGCACACAC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2067481	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0085 a0001c0003t0009g0085	1	104	0.0096	16	c.49+ others(33): Show c.49+13871_49+13872insTGTGTGTGTGTGTGCG	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(9): Show TCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02723.hp2 HG03139.hp1 others(3): Show HG01496.hp1 HG02723.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0011 others(3): Show a0001c0001 a0001c0003 a0001c0011 a0002c0013 a0004c0034 a0004c0039	a0001c0001t0004 a0001c0003t0010 a0001c0011t0014 others(3): Show a0001c0001t0004 a0001c0003t0010 a0001c0011t0014 a0002c0013t0035 a0004c0034t0009 a0004c0039t0009	a0001c0001t0004g0008 a0001c0003t0010g0019 a0001c0011t0014g0007 others(3): Show a0001c0001t0004g0008 a0001c0003t0010g0019 a0001c0011t0014g0007 a0002c0013t0035g0035 a0004c0034t0009g0041 a0004c0039t0009g0040	6	104	0.0577	16	c.49+ others(33): Show c.49+17549_49+17564dupCCCTCCCTCCCTCCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2117270	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0011 a0003c0016t0011	a0003c0016t0011g0082 a0003c0016t0011g0082	1	104	0.0096	16	c.371 others(33): Show c.371+1731_371+1746dupAATAAATAAATAAATA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	2/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120656	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0068 a0001c0003t0018g0068	1	104	0.0096	16	c.477 others(31): Show c.477+252_477+267dupGTGTGTGTGTGTGTGT	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(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp1 HG02647.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0012 a0001c0008 a0001c0012	a0001c0008t0033 a0001c0012t0007 a0001c0008t0033 a0001c0012t0007	a0001c0008t0033g0051 a0001c0012t0007g0076 a0001c0008t0033g0051 a0001c0012t0007g0076	2	104	0.0192	16	c.477 others(35): Show c.477+57183_477+57198dupCTTCCTTCCTTCCTTC	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(9): Show GTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	1	104	0.0096	16	c.478 others(35): Show c.478-70172_478-70157dupTCCTTCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03486.hp1 others(2): Show HG02896.hp2 HG02897.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0036 a0002c0009 a0001c0001 a0001c0036 a0002c0009	a0001c0001t0004 a0001c0001t0021 a0001c0036t0007 others(1): Show a0001c0001t0004 a0001c0001t0021 a0001c0036t0007 a0002c0009t0012	a0001c0001t0004g0005 a0001c0001t0021g0055 a0001c0036t0007g0100 others(2): Show a0001c0001t0004g0005 a0001c0001t0021g0055 a0001c0036t0007g0100 a0002c0009t0012g0061 a0002c0009t0012g0062	5	104	0.0481	16	c.478 others(35): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAA	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(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02145.hp1 HG02258.hp2 others(5): Show HG01358.hp1 HG02145.hp1 HG02258.hp2 HG02723.hp2 HG03139.hp1 HG03225.hp1 NA19003.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0012 a0002c0013 a0003c0016 a0004c0039	a0001c0001t0022 a0001c0004t0004 a0001c0007t0005 others(5): Show a0001c0001t0022 a0001c0004t0004 a0001c0007t0005 a0001c0011t0014 a0001c0012t0007 a0002c0013t0016 a0003c0016t0011 a0004c0039t0009	a0001c0001t0022g0058 a0001c0004t0004g0084 a0001c0007t0005g0002 others(5): Show a0001c0001t0022g0058 a0001c0004t0004g0084 a0001c0007t0005g0002 a0001c0011t0014g0007 a0001c0012t0007g0046 a0002c0013t0016g0022 a0003c0016t0011g0082 a0004c0039t0009g0040	8	104	0.0769	16	c.478 others(35): Show c.478-28843_478-28828dupGTGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2438384	T T	TGGTGGTG others(9): Show TGGTGGTGATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0033 a0001c0006t0001g0033	1	104	0.0096	16	c.478 others(35): Show c.478-10592_478-10591insGGTGGTGATGGTGGTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02886.hp1 others(5): Show HG02280.hp2 HG02572.hp1 HG02886.hp1 HG02965.hp2 HG03471.hp1 HG03486.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0003t0018 a0001c0003t0040 a0003c0023t0011	a0001c0001t0002g0027 a0001c0001t0003g0063 a0001c0001t0004g0005 others(5): Show a0001c0001t0002g0027 a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0005g0015 a0001c0002t0001g0094 a0001c0003t0018g0068 a0001c0003t0040g0011 a0003c0023t0011g0048	8	104	0.0769	16	c.111 others(35): Show c.1113+4602_1113+4617dupCACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2661280	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02683.hp2 HG01358.hp2 HG02683.hp2	a0001 a0005 a0001 a0005	a0001c0008 a0005c0030 a0001c0008 a0005c0030	a0001c0008t0038 a0005c0030t0001 a0001c0008t0038 a0005c0030t0001	a0001c0008t0038g0044 a0005c0030t0001g0077 a0001c0008t0038g0044 a0005c0030t0001g0077	2	104	0.0192	16	c.423 others(35): Show c.4233-3525_4233-3510dupCACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	34/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520849	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02683.hp2 others(3): Show HG01109.hp1 HG01934.hp1 HG02683.hp2 NA18963.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002	a0001c0001t0002g0091 a0001c0003t0002g0093 a0001c0003t0003g0106 others(3): Show a0001c0001t0002g0091 a0001c0003t0002g0093 a0001c0003t0003g0106 a0001c0003t0037g0020 a0001c0004t0001g0150 a0001c0004t0002g0078	6	210	0.0286	16	c.483 others(35): Show c.483+19162_483+19177dupCTTTCTTTCTTTCTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0006 a0001c0002t0007g0006	1	210	0.0048	16	c.139 others(35): Show c.1391-4757_1391-4756insTGTGTGTGTGTGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03942.hp1 NA18962.hp2 others(3): Show HG03688.hp2 HG03942.hp1 NA18962.hp2 NA18982.hp1 NA19066.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0012 a0001c0002t0007 a0001c0003t0001 others(3): Show a0001c0001t0012 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0023 a0001c0004t0012	a0001c0001t0012g0181 a0001c0002t0007g0158 a0001c0003t0001g0168 others(3): Show a0001c0001t0012g0181 a0001c0002t0007g0158 a0001c0003t0001g0168 a0001c0003t0002g0051 a0001c0003t0023g0046 a0001c0004t0012g0171	6	210	0.0286	16	c.485 others(33): Show c.4852+611_4852+626dupATATATATATATATAT	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(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02132.hp1 others(2): Show HG00673.hp1 HG02027.hp2 HG02132.hp1 NA18986.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0021 a0001c0001t0033 a0001c0001t0048 others(1): Show a0001c0001t0021 a0001c0001t0033 a0001c0001t0048 a0001c0003t0049	a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0033g0172 others(2): Show a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0033g0172 a0001c0001t0048g0086 a0001c0003t0049g0068	5	210	0.0238	16	c.485 others(33): Show c.4852+598_4852+599insGTATATATATATATAT	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(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 a0001c0004t0001 a0001c0004t0008 a0001c0004t0011	a0001c0004t0001g0169 a0001c0004t0008g0101 a0001c0004t0011g0170 a0001c0004t0001g0169 a0001c0004t0008g0101 a0001c0004t0011g0170	3	210	0.0143	16	c.485 others(33): Show c.4852+598_4852+599insGTGTATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0125 a0001c0001t0041g0125	1	210	0.0048	16	c.485 others(33): Show c.4852+598_4852+599insGTGTGTATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0043 a0001c0002t0070g0043	1	210	0.0048	16	c.625 others(33): Show c.6253-342_6253-327dupAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181508147	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0075 a0001c0006t0075	a0001c0006t0075g0064 a0001c0006t0075g0064	1	206	0.0049	16	c.267 others(33): Show c.267-2317_267-2302dupTGTGTGTGTGTGTGTG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01123.hp2 others(7): Show HG00323.hp1 HG00642.hp1 HG01123.hp2 HG01192.hp2 HG01975.hp2 HG01993.hp2 HG03492.hp2 HG03831.hp2 HG06807.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0001c0011 a0001c0020 others(1): Show a0001c0004 a0001c0011 a0001c0020 a0009c0021	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 others(3): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0011t0004 a0001c0020t0031 a0009c0021t0002	a0001c0004t0001g0186 a0001c0004t0002g0101 a0001c0004t0002g0160 others(7): Show a0001c0004t0001g0186 a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0001c0004t0004g0137 a0001c0004t0004g0185 a0001c0011t0004g0091 a0001c0011t0004g0206 a0001c0020t0031g0074 a0009c0021t0002g0098	10	206	0.0485	16	c.526 others(35): Show c.5268-1592_5268-1577dupCACACACACACACACA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp2 others(13): Show HG00642.hp2 HG01069.hp1 HG01071.hp2 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02818.hp2 HG03017.hp1 HG03688.hp2 NA18522.hp2 NA18964.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0002c0029 a0003c0003 a0006c0018	a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 others(9): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0025 a0001c0006t0025 a0002c0002t0001 a0002c0002t0044 a0002c0029t0001 a0003c0003t0001 a0003c0003t0023 a0003c0003t0060 a0006c0018t0001	a0001c0001t0002g0195 a0001c0001t0010g0028 a0001c0001t0019g0052 others(13): Show a0001c0001t0002g0195 a0001c0001t0010g0028 a0001c0001t0019g0052 a0001c0001t0025g0057 a0001c0006t0025g0111 a0002c0002t0001g0022 a0002c0002t0044g0053 a0002c0029t0001g0153 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0096 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0023g0182 a0003c0003t0060g0079 a0006c0018t0001g0056	16	206	0.0777	16	c.620 others(33): Show c.6208+728_6208+743dupATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49235861	A A	ACACACAC others(9): Show ACACACACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG06807.hp2 HG02976.hp2 HG06807.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0047 a0004c0007t0001g0048 a0004c0007t0001g0047 a0004c0007t0001g0048	2	290	0.0069	16	c.-25 others(27): Show c.-2553_-2552insCGTGTGTGTGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2522		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG01255.hp2 others(15): Show HG00099.hp2 HG01192.hp1 HG01255.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp1 HG02258.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA19007.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0017 a0001c0042 a0002c0009 a0007c0022	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0017t0002 a0001c0042t0001 a0002c0009t0002 a0007c0022t0001	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 others(15): Show a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0003g0078 a0001c0003t0001g0077 a0001c0003t0001g0224 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0017t0002g0079 a0001c0042t0001g0225 a0002c0009t0002g0080 a0002c0009t0002g0085 a0002c0009t0002g0223 a0007c0022t0001g0090	18	246	0.0732	16	c.242 others(33): Show c.242+2447_242+2462dupGTGTGTGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00738.hp1 others(20): Show HG00099.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01255.hp2 HG01361.hp2 HG02055.hp2 HG02071.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02738.hp2 HG02886.hp2 HG03486.hp1 HG04115.hp1 HG04115.hp2 NA18951.hp1 NA18971.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0020 a0001c0026 a0001c0030 a0003c0016	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(10): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0012t0001 a0001c0020t0001 a0001c0026t0001 a0001c0030t0001 a0003c0016t0002	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0060 others(20): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0240 a0001c0002t0003g0078 a0001c0002t0004g0155 a0001c0005t0001g0182 a0001c0005t0001g0192 a0001c0005t0003g0052 a0001c0005t0003g0181 a0001c0006t0001g0029 a0001c0006t0002g0100 a0001c0007t0001g0175 a0001c0012t0001g0232 a0001c0020t0001g0107 a0001c0026t0001g0099 a0001c0030t0001g0199 a0003c0016t0002g0051	23	246	0.0935	16	c.354 others(29): Show c.354+34_354+35insGTGTGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00738.hp2 others(21): Show HG00280.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG02615.hp2 HG02809.hp1 HG02976.hp2 HG03130.hp2 NA18953.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA19002.hp1 NA19057.hp1 NA19066.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0038 a0002c0009 a0003c0016 a0005c0018 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0007t0001 a0001c0008t0004 a0001c0008t0010 a0001c0010t0001 a0001c0038t0001 a0002c0009t0002 a0003c0016t0002 a0005c0018t0001 a0006c0015t0001	a0001c0001t0001g0019 a0001c0001t0001g0238 a0001c0002t0001g0006 others(20): Show a0001c0001t0001g0019 a0001c0001t0001g0238 a0001c0002t0001g0006 a0001c0002t0001g0206 a0001c0002t0003g0078 a0001c0002t0003g0129 a0001c0004t0004g0229 a0001c0005t0001g0182 a0001c0005t0001g0192 a0001c0005t0003g0010 a0001c0006t0001g0033 a0001c0006t0001g0241 a0001c0007t0001g0057 a0001c0008t0004g0228 a0001c0008t0010g0214 a0001c0010t0001g0065 a0001c0038t0001g0153 a0002c0009t0002g0132 a0002c0009t0002g0223 a0003c0016t0002g0066 a0005c0018t0001g0176 a0005c0018t0001g0177 a0006c0015t0001g0003	24	246	0.0976	16	c.586 others(31): Show c.586+771_586+786dupTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50589912	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	246	0.0041	16	c.230 others(33): Show c.2302-558_2302-557insCTCTCTCTCTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50619518	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTTTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00738.hp2 others(30): Show HG00323.hp1 HG00408.hp1 HG00738.hp2 HG01099.hp1 HG01243.hp2 HG01261.hp2 HG01516.hp2 HG01891.hp1 HG02040.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG04115.hp1 HG04204.hp2 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18971.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0013	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0017 a0002c0009 a0002c0032 a0003c0021 a0004c0019 a0010c0027 a0013c0033	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(12): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0008t0004 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0002c0009t0002 a0002c0032t0006 a0003c0021t0002 a0004c0019t0002 a0010c0027t0004 a0013c0033t0002	a0001c0001t0001g0102 a0001c0004t0001g0124 a0001c0007t0001g0049 others(30): Show a0001c0001t0001g0102 a0001c0004t0001g0124 a0001c0007t0001g0049 a0001c0007t0001g0057 a0001c0007t0001g0149 a0001c0007t0001g0175 a0001c0007t0001g0202 a0001c0007t0001g0205 a0001c0007t0001g0239 a0001c0007t0004g0148 a0001c0007t0004g0154 a0001c0008t0001g0048 a0001c0008t0001g0104 a0001c0008t0001g0130 a0001c0008t0001g0159 a0001c0008t0004g0137 a0001c0008t0004g0228 a0001c0010t0001g0065 a0001c0010t0001g0072 a0001c0010t0001g0128 a0001c0010t0004g0220 a0001c0010t0004g0221 a0001c0017t0002g0075 a0001c0017t0002g0079 a0002c0009t0002g0085 a0002c0009t0002g0223 a0002c0009t0002g0237 a0002c0032t0006g0217 a0003c0021t0002g0127 a0004c0019t0002g0064 a0004c0019t0002g0071 a0010c0027t0004g0147 a0013c0033t0002g0068	33	246	0.1342	16	c.578 others(33): Show c.5782-156_5782-155insGTTTGTGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39570246	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0032 a0001c0022t0032	a0001c0022t0032g0030 a0001c0022t0032g0030	1	236	0.0042	16	c.-50 others(25): Show c.-507_-506insCCTTCCTTCCTTCCTT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		506		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTCCTTCC others(9): Show TTCCTTCCTTTCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0001 a0001c0001t0009 a0002c0003t0001	a0001c0001t0009g0134 a0002c0003t0001g0144 a0001c0001t0009g0134 a0002c0003t0001g0144	2	236	0.0085	16	c.-46 others(25): Show c.-464_-463insTCCTTCCTTTCTTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTCCTTTC others(9): Show TTCCTTTCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01243.hp1 others(9): Show HG00140.hp1 HG00609.hp1 HG01243.hp1 HG02071.hp2 HG02145.hp2 HG02280.hp2 HG02886.hp1 HG03209.hp2 HG03492.hp2 NA18945.hp1 NA18954.hp2 NA18964.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0015	a0001c0001 a0001c0014 a0001c0020 others(5): Show a0001c0001 a0001c0014 a0001c0020 a0001c0023 a0002c0003 a0003c0005 a0007c0010 a0015c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0014t0030 a0001c0020t0001 a0001c0023t0010 a0002c0003t0001 a0003c0005t0053 a0007c0010t0001 a0015c0043t0007	a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 others(9): Show a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0165 a0001c0001t0005g0125 a0001c0014t0030g0129 a0001c0020t0001g0146 a0001c0023t0010g0130 a0002c0003t0001g0156 a0003c0005t0053g0142 a0007c0010t0001g0154 a0015c0043t0007g0149	12	236	0.0509	16	c.-46 others(25): Show c.-464_-463insTCCTTTCTTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39586493	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02055.hp2 others(2): Show HG01243.hp1 HG01884.hp2 HG02055.hp2 HG02965.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0013 a0003c0008 a0001c0001 a0002c0013 a0003c0008	a0001c0001t0005 a0001c0001t0008 a0002c0013t0012 others(1): Show a0001c0001t0005 a0001c0001t0008 a0002c0013t0012 a0003c0008t0006	a0001c0001t0005g0125 a0001c0001t0008g0008 a0001c0001t0008g0139 others(2): Show a0001c0001t0005g0125 a0001c0001t0008g0008 a0001c0001t0008g0139 a0002c0013t0012g0137 a0003c0008t0006g0124	5	236	0.0212	16	c.237 others(35): Show c.237-11642_237-11627dupTAAATAAATAAATAAA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(9): Show TTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03041.hp1 HG03195.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0029 a0002c0013t0001 a0002c0013t0029	a0002c0013t0001g0140 a0002c0013t0029g0164 a0002c0013t0001g0140 a0002c0013t0029g0164	2	236	0.0085	16	c.482 others(33): Show c.482+1348_482+1349insTTCCTTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39620009	G G	GTCCATCC others(9): Show GTCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0124 a0003c0008t0006g0124	1	236	0.0042	16	c.580 others(31): Show c.580+604_580+605insCATCCATCCATCCATC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39620012	T T	TATCCATC others(9): Show TATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02055.hp1 HG02109.hp2 others(8): Show HG00323.hp2 HG02055.hp1 HG02109.hp2 HG02615.hp2 HG02809.hp2 HG03139.hp2 HG03492.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0030 a0002c0003 a0006c0012	a0001c0001t0005 a0001c0001t0048 a0001c0002t0003 others(5): Show a0001c0001t0005 a0001c0001t0048 a0001c0002t0003 a0001c0009t0003 a0001c0009t0007 a0001c0030t0004 a0002c0003t0001 a0006c0012t0005	a0001c0001t0005g0007 a0001c0001t0005g0118 a0001c0001t0005g0119 others(8): Show a0001c0001t0005g0007 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0048g0128 a0001c0002t0003g0180 a0001c0009t0003g0103 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0030t0004g0138 a0002c0003t0001g0156 a0006c0012t0005g0120	11	236	0.0466	16	c.580 others(31): Show c.580+631_580+646dupTCCATCCATCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686608	A A	ACATATAT others(9): Show ACATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01978.hp1 HG02630.hp1 HG01358.hp1 HG01978.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0006 a0001c0001 a0004c0004 a0004c0006	a0001c0001t0036 a0004c0004t0023 a0004c0006t0023 a0001c0001t0036 a0004c0004t0023 a0004c0006t0023	a0001c0001t0036g0086 a0004c0004t0023g0057 a0004c0006t0023g0227 a0001c0001t0036g0086 a0004c0004t0023g0057 a0004c0006t0023g0227	3	236	0.0127	16	c.21 others(25): Show c.218_*219insGCATATATATATATAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG03225.hp2 HG02630.hp1 HG03195.hp2 HG03225.hp2	a0005 a0005	a0005c0022 a0005c0044 a0005c0049 a0005c0022 a0005c0044 a0005c0049	a0005c0022t0003 a0005c0044t0001 a0005c0049t0001 a0005c0022t0003 a0005c0044t0001 a0005c0049t0001	a0005c0022t0003g0258 a0005c0044t0001g0286 a0005c0049t0001g0254 a0005c0022t0003g0258 a0005c0044t0001g0286 a0005c0049t0001g0254	3	314	0.0096	16	c.40 others(27): Show c.4012_*4013insAAAAAAAAAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201036004	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18947.hp2 NA19079.hp2 HG00597.hp1 NA18947.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0001c0001t0001 a0001c0003t0001 a0001c0011t0001	a0001c0001t0001g0248 a0001c0003t0001g0144 a0001c0011t0001g0278 a0001c0001t0001g0248 a0001c0003t0001g0144 a0001c0011t0001g0278	3	314	0.0096	16	c.38 others(27): Show c.3826_*3827insCACACACACACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3507		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056070	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18969.hp2 NA19054.hp2 others(2): Show NA18946.hp2 NA18969.hp2 NA19054.hp2 NA19062.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0021 a0001c0002 a0001c0007 a0001c0021	a0001c0002t0001 a0001c0007t0001 a0001c0021t0001 a0001c0002t0001 a0001c0007t0001 a0001c0021t0001	a0001c0002t0001g0119 a0001c0007t0001g0097 a0001c0007t0001g0179 others(2): Show a0001c0002t0001g0119 a0001c0007t0001g0097 a0001c0007t0001g0179 a0001c0007t0001g0284 a0001c0021t0001g0232	5	314	0.0159	16	c.361 others(35): Show c.3610-1525_3610-1510dupGTGTGTGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056078	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0015 a0001c0011t0001g0015	1	314	0.0032	16	c.361 others(35): Show c.3610-1518_3610-1517insATGTGTGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp2 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0136 a0001c0003t0001g0025 a0001c0001t0005g0136 a0001c0003t0001g0025	2	144	0.0139	16	c.527 others(35): Show c.527-14538_527-14523dupAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp1 HG02630.hp2 others(4): Show HG00735.hp2 HG01261.hp1 HG02630.hp2 HG02922.hp2 HG04184.hp2 NA18960.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0002t0002	a0001c0001t0003g0052 a0001c0001t0003g0088 a0001c0001t0009g0027 others(4): Show a0001c0001t0003g0052 a0001c0001t0003g0088 a0001c0001t0009g0027 a0001c0001t0014g0048 a0001c0001t0015g0006 a0001c0002t0002g0122 a0001c0002t0002g0128	7	144	0.0486	16	c.355 others(33): Show c.355-1047_355-1032dupTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	144	0.0069	16	c.355 others(33): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	144	0.0069	16	c.295 others(35): Show c.295-10448_295-10433dupAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)