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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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
CACFD1_chr9_133454978_133475848	133460471	C C	CGGCGGGG others(16): Show CGGCGGGGGCGGGGGGGCGGCGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01123.hp1 others(2): Show HG00280.hp2 HG00323.hp2 HG01123.hp1 HG02523.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	5	420	0.0119	23	c.121 others(38): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0010 a0015c0021t0010	a0015c0021t0010g0045 a0015c0021t0010g0045	1	218	0.0046	23	c.308 others(42): Show c.3089+4034_3089+4056dupAAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0043 a0043	a0043c0091 a0043c0091	a0043c0091t0005 a0043c0091t0005	a0043c0091t0005g0027 a0043c0091t0005g0027	1	218	0.0046	23	c.166 others(42): Show c.1669-1958_1669-1957insATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02698.hp1 HG02698.hp2 HG02258.hp1 HG02698.hp1 HG02698.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0101 a0004c0007 a0009c0014 a0002c0101 a0004c0007 a0009c0014	a0002c0101t0006 a0004c0007t0001 a0009c0014t0002 a0002c0101t0006 a0004c0007t0001 a0009c0014t0002	a0002c0101t0006g0150 a0004c0007t0001g0114 a0009c0014t0002g0048 a0002c0101t0006g0150 a0004c0007t0001g0114 a0009c0014t0002g0048	3	218	0.0138	23	c.166 others(42): Show c.1669-1960_1669-1959insATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	218	0.0046	23	c.166 others(42): Show c.1669-1962_1669-1961insATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01099.hp2 others(1): Show HG00544.hp1 HG01070.hp2 HG01099.hp2 HG02622.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0038 a0004c0080 a0005c0066 others(1): Show a0001c0038 a0004c0080 a0005c0066 a0006c0060	a0001c0038t0007 a0004c0080t0009 a0005c0066t0001 others(1): Show a0001c0038t0007 a0004c0080t0009 a0005c0066t0001 a0006c0060t0002	a0001c0038t0007g0205 a0004c0080t0009g0129 a0005c0066t0001g0034 others(1): Show a0001c0038t0007g0205 a0004c0080t0009g0129 a0005c0066t0001g0034 a0006c0060t0002g0016	4	218	0.0184	23	c.134 others(42): Show c.1346-1570_1346-1569insAAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(16): Show GGAGAGAGAGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0027 a0027	a0027c0064 a0027c0064	a0027c0064t0004 a0027c0064t0004	a0027c0064t0004g0101 a0027c0064t0004g0101	1	218	0.0046	23	c.979 others(38): Show c.979-686_979-685insTCTCTCTCTCTCTCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01975.hp2 HG02273.hp2 HG00099.hp2 HG01975.hp2 HG02273.hp2	a0001 a0012 a0001 a0012	a0001c0049 a0001c0120 a0012c0023 a0001c0049 a0001c0120 a0012c0023	a0001c0049t0001 a0001c0120t0004 a0012c0023t0003 a0001c0049t0001 a0001c0120t0004 a0012c0023t0003	a0001c0049t0001g0012 a0001c0120t0004g0014 a0012c0023t0003g0180 a0001c0049t0001g0012 a0001c0120t0004g0014 a0012c0023t0003g0180	3	218	0.0138	23	c.539 others(42): Show c.539+19393_539+19415dupTTTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137877680	G G	GGGGCGGG others(16): Show GGGGCGGGGCCGGCGCGGCAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0034 a0001c0007t0001g0034	1	248	0.0040	23	c.-25 others(32): Show c.-254_-253insGGGCGGGGCCGGCGCGGCAGGGT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		101		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp2 HG02080.hp2 others(3): Show HG00609.hp2 HG01891.hp2 HG02080.hp2 HG02559.hp2 HG02622.hp1 NA18994.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0012 a0001c0041 a0002c0004 others(1): Show a0001c0012 a0001c0041 a0002c0004 a0007c0016	a0001c0012t0001 a0001c0041t0001 a0002c0004t0007 others(1): Show a0001c0012t0001 a0001c0041t0001 a0002c0004t0007 a0007c0016t0007	a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0041t0001g0182 others(3): Show a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0041t0001g0182 a0002c0004t0007g0176 a0007c0016t0007g0054 a0007c0016t0007g0205	6	248	0.0242	23	c.509 others(42): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2110936	T T	TACCTGTC others(16): Show TACCTGTCTCACCCGAGAGGCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01106.hp1 others(45): Show HG00140.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01496.hp1 HG01496.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0001c0022 a0001c0024 a0001c0029 a0001c0031 a0001c0032 a0001c0036 a0002c0009 a0002c0013 a0003c0023 a0003c0027 a0004c0034 a0004c0039 a0006c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0003t0040 a0001c0004t0010 a0001c0004t0036 a0001c0005t0002 a0001c0006t0001 a0001c0007t0006 a0001c0010t0003 a0001c0010t0008 a0001c0011t0014 a0001c0011t0030 a0001c0012t0007 a0001c0014t0032 a0001c0020t0002 a0001c0022t0014 a0001c0024t0003 a0001c0029t0019 a0001c0031t0002 a0001c0032t0031 a0001c0036t0007 a0002c0009t0012 a0002c0013t0035 a0003c0023t0011 a0003c0027t0011 a0004c0034t0009 a0004c0039t0009 a0006c0028t0006	a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0003g0063 others(45): Show a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0003g0063 a0001c0001t0004g0008 a0001c0001t0005g0015 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0017g0101 a0001c0001t0021g0055 a0001c0001t0022g0058 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0036 a0001c0002t0001g0092 a0001c0002t0003g0056 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0003t0040g0011 a0001c0004t0010g0020 a0001c0004t0036g0099 a0001c0005t0002g0090 a0001c0006t0001g0033 a0001c0007t0006g0074 a0001c0010t0003g0054 a0001c0010t0008g0064 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0012t0007g0046 a0001c0014t0032g0023 a0001c0020t0002g0010 a0001c0022t0014g0050 a0001c0024t0003g0067 a0001c0029t0019g0060 a0001c0031t0002g0021 a0001c0032t0031g0103 a0001c0036t0007g0100 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0035g0035 a0003c0023t0011g0048 a0003c0027t0011g0013 a0004c0034t0009g0041 a0004c0039t0009g0040 a0006c0028t0006g0072	48	104	0.4615	23	c.50- others(38): Show c.50-4242_50-4220dupCACCTGTCTCACCCGAGAGGCCA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2110936	T T	TACCTGTC others(16): Show TACCTGTCTCACCTGAGAGGCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0076 a0001c0012t0007g0076	1	104	0.0096	23	c.50- others(38): Show c.50-4276_50-4275insTGAGAGGCCACACCTGTCTCACC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	C C	CCCTCCCT others(16): Show CCCTCCCTCCCTCCCTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0037 a0001c0002t0029g0037	1	104	0.0096	23	c.477 others(42): Show c.477+57160_477+57161insCCCTCCCTCCCTCCTTCCTTCCT	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(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0009 a0004c0034t0009	a0004c0034t0009g0041 a0004c0034t0009g0041	1	104	0.0096	23	c.478 others(42): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2498003	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0039 a0001c0014t0039	a0001c0014t0039g0095 a0001c0014t0039g0095	1	104	0.0096	23	c.111 others(42): Show c.1113+4617_1113+4618insCACACACACACACACACACACAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46			chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04199.hp2 HG02273.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0075 a0001c0004t0001 a0001c0001t0075 a0001c0004t0001	a0001c0001t0075g0009 a0001c0004t0001g0152 a0001c0001t0075g0009 a0001c0004t0001g0152	2	210	0.0095	23	c.122 others(42): Show c.1220+8558_1220+8580dupAAAAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1I_chr22_39565753_39694735	39596446	G G	GGAGATGG others(16): Show GGAGATGGGGGGGCAGGGCGGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01071.hp2 others(8): Show HG00323.hp2 HG00733.hp1 HG01071.hp2 HG01106.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG02451.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0046 others(2): Show a0001c0001 a0001c0002 a0001c0046 a0002c0003 a0006c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 a0001c0001t0048 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0046t0003 a0002c0003t0001 a0006c0015t0002	a0001c0001t0002g0162 a0001c0001t0003g0151 a0001c0001t0003g0160 others(8): Show a0001c0001t0002g0162 a0001c0001t0003g0151 a0001c0001t0003g0160 a0001c0001t0038g0161 a0001c0001t0048g0128 a0001c0002t0002g0179 a0001c0002t0003g0180 a0001c0002t0004g0190 a0001c0046t0003g0185 a0002c0003t0001g0163 a0006c0015t0002g0188	11	236	0.0466	23	c.237 others(40): Show c.237-1700_237-1699insGGGGGGGCAGGGCGGAGAGAGAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	144	0.0069	23	c.295 others(42): Show c.295-10455_295-10433dupAAAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	144	0.0069	23	c.96- others(40): Show c.96-17277_96-17255dupAAAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82385652	T T	TTTGTTTT others(16): Show TTTGTTTTGTTTTGTTGTTTCTTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01975.hp1 NA19002.hp1 HG01261.hp1 HG01975.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015	a0001c0001t0002g0133 a0001c0001t0004g0071 a0001c0001t0015g0006 a0001c0001t0002g0133 a0001c0001t0004g0071 a0001c0001t0015g0006	3	144	0.0208	23	c.96- others(40): Show c.96-36004_96-36003insCAAGAAACAACAAAACAAAACAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	144	0.0069	23	c.95+ others(40): Show c.95+11327_95+11328insTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0043 a0001c0005 a0001c0043	a0001c0005t0001 a0001c0043t0001 a0001c0005t0001 a0001c0043t0001	a0001c0005t0001g0052 a0001c0043t0001g0051 a0001c0005t0001g0052 a0001c0043t0001g0051	2	118	0.0170	23	c.204 others(42): Show c.204+47564_204+47565insTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	118	0.0085	23	c.138 others(42): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG04115.hp2 NA18979.hp2 HG03041.hp2 HG04115.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0005t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0005t0001g0005	3	118	0.0254	23	c.139 others(42): Show c.1398+5920_1398+5921insTTTCTTTCTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883823	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp1 HG03453.hp2 HG01192.hp2 HG02630.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0007 a0001c0001t0001 a0001c0002t0001 a0001c0006t0007	a0001c0001t0001g0033 a0001c0002t0001g0039 a0001c0006t0007g0098 a0001c0001t0001g0033 a0001c0002t0001g0039 a0001c0006t0007g0098	3	118	0.0254	23	c.191 others(42): Show c.1913-1458_1913-1457insTCTCTCTCTCTCTCTCTCTCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55075421	C C	CAACAGCC others(16): Show CAACAGCCATGGAGCTATAGAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG02300.hp1 others(2): Show HG00099.hp1 HG01106.hp1 HG02300.hp1 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0021 others(1): Show a0001c0002 a0001c0004 a0001c0021 a0001c0029	a0001c0002t0002 a0001c0004t0002 a0001c0021t0002 others(1): Show a0001c0002t0002 a0001c0004t0002 a0001c0021t0002 a0001c0029t0001	a0001c0002t0002g0066 a0001c0002t0002g0091 a0001c0004t0002g0008 others(2): Show a0001c0002t0002g0066 a0001c0002t0002g0091 a0001c0004t0002g0008 a0001c0021t0002g0023 a0001c0029t0001g0096	5	118	0.0424	23	c.12 others(34): Show c.1215_*1216insAACAGCCATGGAGCTATAGAATT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding		865		chr3	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0056 a0001c0001t0031g0056	1	200	0.0050	23	c.121 others(35): Show c.121-25_121-3dupTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	200	0.0050	23	c.213 others(42): Show c.213+21964_213+21965insTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18356938	A A	ATGTCTTT others(16): Show ATGTCTTTTTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG03486.hp2 HG01361.hp1 HG01891.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0018 a0001c0002t0002 a0001c0001t0007 a0001c0001t0018 a0001c0002t0002	a0001c0001t0007g0189 a0001c0001t0018g0011 a0001c0002t0002g0004 a0001c0001t0007g0189 a0001c0001t0018g0011 a0001c0002t0002g0004	3	200	0.0150	23	c.214 others(42): Show c.214-44985_214-44984insGTCTTTTTTTTTTCTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0155 a0001c0002t0060g0155	1	200	0.0050	23	c.334 others(42): Show c.334-33915_334-33914insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show TAAAATAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	200	0.0050	23	c.334 others(42): Show c.334-33933_334-33932insTAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495582	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0086 a0001c0001t0035g0086	1	200	0.0050	23	c.334 others(40): Show c.334-2763_334-2762insGTGTGTGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18356938	A A	ATGTCTTT others(16): Show ATGTCTTTTTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp2 HG01891.hp2 others(1): Show HG01099.hp1 HG01361.hp2 HG01891.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 a0002c0003t0018	a0001c0001t0003g0052 a0001c0001t0010g0289 a0001c0002t0002g0288 others(1): Show a0001c0001t0003g0052 a0001c0001t0010g0289 a0001c0002t0002g0288 a0002c0003t0018g0211	4	302	0.0133	23	c.51+ others(40): Show c.51+15962_51+15963insGTCTTTTTTTTTTCTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02135.hp2 HG00408.hp1 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0054 a0001c0002t0002 a0001c0002t0054	a0001c0002t0002g0039 a0001c0002t0054g0295 a0001c0002t0002g0039 a0001c0002t0054g0295	2	302	0.0066	23	c.172 others(42): Show c.172-33915_172-33914insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show TAAAATAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03195.hp2 HG01070.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0220 a0001c0002t0006g0106 a0001c0002t0002g0220 a0001c0002t0006g0106	2	302	0.0066	23	c.172 others(42): Show c.172-33933_172-33932insTAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495582	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0241 a0001c0001t0025g0241	1	302	0.0033	23	c.172 others(40): Show c.172-2763_172-2762insGTGTGTGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861842	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0073 a0001c0001t0037g0073	1	230	0.0044	23	c.759 others(40): Show c.759-1023_759-1022insTTTTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151861851	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01884.hp1 others(8): Show HG01109.hp2 HG01175.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp2 HG02698.hp1 HG02738.hp2 HG03688.hp1 NA18969.hp2 NA18977.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0036	a0001c0001t0005g0229 a0001c0001t0007g0011 a0001c0001t0007g0015 others(8): Show a0001c0001t0005g0229 a0001c0001t0007g0011 a0001c0001t0007g0015 a0001c0001t0007g0111 a0001c0001t0007g0120 a0001c0001t0007g0206 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0017g0196 a0001c0001t0018g0046 a0001c0001t0036g0213	11	230	0.0478	23	c.759 others(40): Show c.759-1032_759-1031insGTTTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151861854	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0033 a0001c0006t0044g0033	1	230	0.0044	23	c.759 others(40): Show c.759-1035_759-1034insGTTTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0004 a0001c0001t0003 a0003c0005t0004	a0001c0001t0003g0084 a0003c0005t0004g0178 a0001c0001t0003g0084 a0003c0005t0004g0178	2	430	0.0047	23	c.54 others(34): Show c.5439_*5440insTCTCTCTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CADM1_chr11_115164236_115509415	115206758	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19062.hp2 NA19079.hp2 HG02165.hp1 NA19062.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0044 a0001c0001t0055 a0001c0001t0025 a0001c0001t0044 a0001c0001t0055	a0001c0001t0025g0130 a0001c0001t0044g0108 a0001c0001t0055g0128 a0001c0001t0025g0130 a0001c0001t0044g0108 a0001c0001t0055g0128	3	164	0.0183	23	c.107 others(42): Show c.1078+2793_1078+2815dupAAAAAAAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	8/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284089	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0161 a0001c0001t0056g0161	1	164	0.0061	23	c.125 others(42): Show c.125-43670_125-43669insGGGAGAGAGAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115334444	A A	AAATTGAT others(16): Show AAATTGATGAGTACAGTACTCATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0144 a0001c0001t0002g0125 a0001c0001t0015g0004 a0001c0001t0001g0144 a0001c0001t0002g0125 a0001c0001t0015g0004	3	164	0.0183	23	c.125 others(42): Show c.125-94047_125-94025dupGATGAGTACTGTACTCATCAATT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	146	0.0069	23	c.61+ others(40): Show c.61+75124_61+75146dupTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0005 a0001c0002t0051g0005	1	146	0.0069	23	c.62- others(42): Show c.62-366855_62-366854insATATATATATATATATATATATT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04115.hp1 HG04115.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0039 a0001c0001t0003 a0001c0001t0028 a0001c0001t0039	a0001c0001t0003g0114 a0001c0001t0028g0122 a0001c0001t0039g0072 a0001c0001t0003g0114 a0001c0001t0028g0122 a0001c0001t0039g0072	3	146	0.0206	23	c.62- others(42): Show c.62-366855_62-366854insATATATATATATATATATATTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03491.hp1 HG02622.hp2 HG02970.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0002t0016 a0001c0003t0024 a0001c0001t0007 a0001c0002t0016 a0001c0003t0024	a0001c0001t0007g0082 a0001c0002t0016g0051 a0001c0003t0024g0007 a0001c0001t0007g0082 a0001c0002t0016g0051 a0001c0003t0024g0007	3	146	0.0206	23	c.62- others(42): Show c.62-366855_62-366854insATATATATATATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG04199.hp2 HG02257.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0017 a0001c0001t0003g0104 a0001c0001t0002g0017 a0001c0001t0003g0104	2	146	0.0137	23	c.62- others(42): Show c.62-366855_62-366854insATATATATATATATATTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02451.hp1 HG00621.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0023 a0001c0001t0001g0108 a0001c0001t0002g0023	2	146	0.0137	23	c.62- others(42): Show c.62-366855_62-366854insATATATATATATATTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359667	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0004 a0001c0003t0024g0004	1	146	0.0069	23	c.62- others(42): Show c.62-366855_62-366854insATATATATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar

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