Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1B_chr9_137872782_138129619	138014848	GCCAGGTC others(9): Show GCCAGGTCCCTGGCAGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03486.hp2 HG01243.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0051 a0001c0003 a0001c0051	a0001c0003t0034 a0001c0051t0007 a0001c0003t0034 a0001c0051t0007	a0001c0003t0034g0109 a0001c0051t0007g0108 a0001c0003t0034g0109 a0001c0051t0007g0108	2	248	0.0081	-16	c.226 others(35): Show c.2267+1615_2267+1630delCAGGTCCCTGGCAGTC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138028023	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	-16	c.328 others(35): Show c.3286+2864_3286+2879delTTTTTTTTTTTTTTTT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	20/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138088959	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp2 others(6): Show HG00280.hp1 HG00323.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01255.hp2 HG01433.hp1 HG04228.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0002c0020 a0002c0033 others(1): Show a0002c0001 a0002c0020 a0002c0033 a0003c0006	a0002c0001t0001 a0002c0020t0002 a0002c0033t0001 others(1): Show a0002c0001t0001 a0002c0020t0002 a0002c0033t0001 a0003c0006t0001	a0002c0001t0001g0165 a0002c0001t0001g0180 a0002c0001t0001g0208 others(6): Show a0002c0001t0001g0165 a0002c0001t0001g0180 a0002c0001t0001g0208 a0002c0001t0001g0214 a0002c0001t0001g0227 a0002c0020t0002g0216 a0002c0033t0001g0161 a0003c0006t0001g0147 a0003c0006t0001g0150	9	248	0.0363	-16	c.509 others(35): Show c.5095-7505_5095-7490delAAAAAAAAAAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2056196	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(13): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0018 a0001c0021 a0001c0036 a0001c0038 a0003c0016 a0003c0023	a0001c0001t0017 a0001c0001t0028 a0001c0003t0009 others(11): Show a0001c0001t0017 a0001c0001t0028 a0001c0003t0009 a0001c0003t0037 a0001c0004t0004 a0001c0004t0036 a0001c0006t0001 a0001c0012t0007 a0001c0018t0042 a0001c0021t0027 a0001c0036t0007 a0001c0038t0041 a0003c0016t0011 a0003c0023t0011	a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0028g0081 others(13): Show a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0028g0081 a0001c0003t0009g0085 a0001c0003t0037g0003 a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0036g0099 a0001c0006t0001g0102 a0001c0012t0007g0046 a0001c0018t0042g0083 a0001c0021t0027g0087 a0001c0036t0007g0100 a0001c0038t0041g0047 a0003c0016t0011g0082 a0003c0023t0011g0048	16	104	0.1539	-16	c.49+ others(31): Show c.49+2612_49+2627delGTGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2146857	GTGGACCC others(9): Show GTGGACCCAAGCAGGGC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02145.hp2 HG02257.hp2 others(11): Show HG01358.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0025 a0001c0026 a0001c0037 a0002c0040 a0003c0016	a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0045 a0001c0003t0005 a0001c0003t0009 a0001c0007t0005 a0001c0025t0007 a0001c0026t0003 a0001c0037t0006 a0002c0040t0016 a0003c0016t0011	a0001c0001t0004g0104 a0001c0001t0005g0042 a0001c0001t0013g0014 others(11): Show a0001c0001t0004g0104 a0001c0001t0005g0042 a0001c0001t0013g0014 a0001c0001t0015g0034 a0001c0001t0017g0004 a0001c0001t0045g0052 a0001c0003t0005g0031 a0001c0003t0009g0085 a0001c0007t0005g0002 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0037t0006g0025 a0002c0040t0016g0073 a0003c0016t0011g0082	14	104	0.1346	-16	c.477 others(35): Show c.477+26446_477+26461delGACCCAAGCAGGGCTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp1 others(1): Show HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03579.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0009 a0004c0034 a0001c0001 a0002c0009 a0004c0034	a0001c0001t0043 a0002c0009t0012 a0004c0034t0009 a0001c0001t0043 a0002c0009t0012 a0004c0034t0009	a0001c0001t0043g0032 a0002c0009t0012g0061 a0002c0009t0012g0062 others(1): Show a0001c0001t0043g0032 a0002c0009t0012g0061 a0002c0009t0012g0062 a0004c0034t0009g0041	4	104	0.0385	-16	c.477 others(35): Show c.477+57183_477+57198delCTTCCTTCCTTCCTTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2277354	GACAGACA others(9): Show GACAGACAGACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0019 a0001c0003t0010g0019	1	104	0.0096	-16	c.477 others(37): Show c.477+156928_477+156943delGACAGACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2277358	GACAGACA others(9): Show GACAGACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp1 NA20300.hp1 HG03195.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0002 a0001c0001t0028 a0001c0024t0003 a0001c0001t0002 a0001c0001t0028 a0001c0024t0003	a0001c0001t0002g0027 a0001c0001t0028g0081 a0001c0024t0003g0067 a0001c0001t0002g0027 a0001c0001t0028g0081 a0001c0024t0003g0067	3	104	0.0289	-16	c.477 others(37): Show c.477+156932_477+156947delGACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2277362	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0058 a0001c0001t0022g0058	1	104	0.0096	-16	c.477 others(37): Show c.477+156983_477+156998delACACACACACACACAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2331877	TAGATTAA others(9): Show TAGATTAAAGGAACTAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG01496.hp2 others(31): Show HG01106.hp2 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01993.hp1 HG02055.hp1 HG02273.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19003.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0020 a0001c0025 a0001c0033 a0001c0036 a0001c0038 a0002c0009 a0002c0013 a0002c0040 a0003c0027 a0003c0035 a0006c0028	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(26): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0043 a0001c0003t0001 a0001c0003t0008 a0001c0003t0009 a0001c0003t0037 a0001c0003t0044 a0001c0004t0036 a0001c0006t0001 a0001c0007t0005 a0001c0007t0006 a0001c0008t0033 a0001c0020t0002 a0001c0025t0007 a0001c0033t0020 a0001c0036t0007 a0001c0038t0041 a0002c0009t0012 a0002c0013t0035 a0002c0040t0016 a0003c0027t0011 a0003c0035t0025 a0006c0028t0006	a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0004g0038 others(31): Show a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0005g0015 a0001c0001t0005g0097 a0001c0001t0013g0014 a0001c0001t0015g0030 a0001c0001t0021g0055 a0001c0001t0024g0080 a0001c0001t0043g0032 a0001c0003t0001g0009 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0009g0085 a0001c0003t0037g0003 a0001c0003t0044g0053 a0001c0004t0036g0099 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 a0001c0020t0002g0010 a0001c0025t0007g0012 a0001c0033t0020g0070 a0001c0036t0007g0100 a0001c0038t0041g0047 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0035g0035 a0002c0040t0016g0073 a0003c0027t0011g0013 a0003c0035t0025g0078 a0006c0028t0006g0072	34	104	0.3269	-16	c.478 others(37): Show c.478-117079_478-117064delTTAAAGGAACTAAAGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2358251	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02886.hp2 others(2): Show HG02145.hp2 HG02258.hp1 HG02886.hp2 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0001c0022	a0001c0001t0005 a0001c0003t0005 a0001c0003t0040 others(2): Show a0001c0001t0005 a0001c0003t0005 a0001c0003t0040 a0001c0017t0006 a0001c0022t0014	a0001c0001t0005g0042 a0001c0003t0005g0031 a0001c0003t0040g0011 others(2): Show a0001c0001t0005g0042 a0001c0003t0005g0031 a0001c0003t0040g0011 a0001c0017t0006g0006 a0001c0022t0014g0050	5	104	0.0481	-16	c.478 others(35): Show c.478-90683_478-90668delGTGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53572362	GTTTGTTT others(9): Show GTTTGTTTGTTTGTTTA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0031 a0001c0007t0031	a0001c0007t0031g0187 a0001c0007t0031g0187	1	210	0.0048	-16	c.483 others(35): Show c.483+70646_483+70661delGTTTGTTTGTTTATTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53572370	GTTTGTTT others(9): Show GTTTGTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0119 a0001c0001t0046g0119	1	210	0.0048	-16	c.483 others(35): Show c.483+70654_483+70669delGTTTATTTATTTATTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01361.hp1 others(14): Show HG00642.hp1 HG00642.hp2 HG01361.hp1 HG02071.hp1 HG02071.hp2 HG02273.hp2 HG02615.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 NA18961.hp1 NA18963.hp1 NA18977.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0075 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0075 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0011 a0001c0004t0039 a0001c0005t0007 a0002c0016t0059	a0001c0001t0002g0064 a0001c0001t0004g0207 a0001c0001t0075g0009 others(14): Show a0001c0001t0002g0064 a0001c0001t0004g0207 a0001c0001t0075g0009 a0001c0002t0007g0158 a0001c0003t0001g0204 a0001c0003t0002g0065 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0002g0047 a0001c0004t0008g0048 a0001c0004t0008g0082 a0001c0004t0008g0101 a0001c0004t0011g0145 a0001c0004t0011g0153 a0001c0004t0039g0028 a0001c0005t0007g0174 a0002c0016t0059g0208	17	210	0.0810	-16	c.111 others(33): Show c.1117-909_1117-894delGTGTGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53679270	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02109.hp1 HG02486.hp1 others(4): Show HG00621.hp1 HG02109.hp1 HG02486.hp1 HG02717.hp1 HG03453.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0014 a0001c0002t0013 others(3): Show a0001c0001t0003 a0001c0001t0014 a0001c0002t0013 a0001c0002t0019 a0001c0002t0034 a0001c0003t0001	a0001c0001t0003g0113 a0001c0001t0014g0031 a0001c0002t0013g0021 others(4): Show a0001c0001t0003g0113 a0001c0001t0014g0031 a0001c0002t0013g0021 a0001c0002t0013g0044 a0001c0002t0019g0115 a0001c0002t0034g0197 a0001c0003t0001g0157	7	210	0.0333	-16	c.122 others(35): Show c.1220+5476_1220+5491delAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713494	CTGTGTGT others(9): Show CTGTGTGTATGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02572.hp1 HG03139.hp1 HG01074.hp2 HG02572.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0010 a0001c0002t0034 a0001c0001t0041 a0001c0002t0010 a0001c0002t0034	a0001c0001t0041g0125 a0001c0002t0010g0190 a0001c0002t0034g0183 a0001c0001t0041g0125 a0001c0002t0010g0190 a0001c0002t0034g0183	3	210	0.0143	-16	c.139 others(35): Show c.1391-4799_1391-4784delATGTGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53747781	CCATTCAT others(9): Show CCATTCATTCATTCATT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 NA19030.hp1 others(1): Show HG02258.hp2 HG02809.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0068 a0001c0001t0073 a0001c0002t0027 others(1): Show a0001c0001t0068 a0001c0001t0073 a0001c0002t0027 a0001c0012t0006	a0001c0001t0068g0001 a0001c0001t0073g0203 a0001c0002t0027g0186 others(1): Show a0001c0001t0068g0001 a0001c0001t0073g0203 a0001c0002t0027g0186 a0001c0012t0006g0132	4	210	0.0191	-16	c.337 others(33): Show c.3374+355_3374+370delATTCATTCATTCATTC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	27/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181482818	GCCCGCCC others(9): Show GCCCGCCCGCTCGCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0067 a0001c0024t0067	a0001c0024t0067g0004 a0001c0024t0067g0004	1	206	0.0049	-16	c.-92 others(25): Show c.-926_-911delCCCGCCCGCTCGCACT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding		698		chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181718611	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0173 a0001c0001t0065g0173	1	206	0.0049	-16	c.163 others(33): Show c.1638+485_1638+500delACACACACACACACAC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50589912	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0056 a0001c0037t0001g0056	1	246	0.0041	-16	c.230 others(33): Show c.2302-537_2302-522delGTGTGTGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1189397	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18944.hp2 HG03098.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0055 a0001c0001 a0002c0055	a0001c0001t0002 a0002c0055t0001 a0001c0001t0002 a0002c0055t0001	a0001c0001t0002g0102 a0002c0055t0001g0215 a0001c0001t0002g0102 a0002c0055t0001g0215	2	338	0.0059	-16	c.300 others(33): Show c.300-5553_300-5538delTTTTTTTTTTTTTTTT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39570271	CCTTCCTT others(9): Show CCTTCCTTCCTTCCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0028 a0001c0034t0028	a0001c0034t0028g0102 a0001c0034t0028g0102	1	236	0.0042	-16	c.-48 others(25): Show c.-481_-466delCTTCCTTCCTTCCTTT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		481		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39583031	ACCATCCA others(9): Show ACCATCCATCCATCCAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0018 a0007c0010t0001g0018	1	236	0.0042	-16	c.236 others(35): Show c.236+12079_236+12094delTCCATCCATCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39616772	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02615.hp1 HG02293.hp1 HG02615.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0012c0021 a0002c0003 a0012c0021	a0002c0003t0001 a0012c0021t0022 a0002c0003t0001 a0012c0021t0022	a0002c0003t0001g0027 a0012c0021t0022g0072 a0002c0003t0001g0027 a0012c0021t0022g0072	2	236	0.0085	-16	c.483 others(33): Show c.483-2533_483-2518delAAAAAAAAAAAGAAAA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39623679	GGGGTGTG others(9): Show GGGGTGTGTGGCTGTGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp2 NA18906.hp1 NA20129.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0005 a0003c0017t0005	a0003c0017t0005g0088 a0003c0017t0005g0089 a0003c0017t0005g0088 a0003c0017t0005g0089	2	236	0.0085	-16	c.580 others(33): Show c.580+4282_580+4297delGCTGTGAGGGTGTGTG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA18959.hp2 NA19062.hp1 HG02056.hp2 NA18959.hp2 NA19062.hp1	a0001 a0001	a0001c0007 a0001c0016 a0001c0007 a0001c0016	a0001c0007t0001 a0001c0016t0001 a0001c0007t0001 a0001c0016t0001	a0001c0007t0001g0062 a0001c0007t0001g0216 a0001c0016t0001g0129 a0001c0007t0001g0062 a0001c0007t0001g0216 a0001c0016t0001g0129	3	314	0.0096	-16	c.39 others(27): Show c.3997_*4012delAAAAAAAAAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201036018	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0181 a0014c0027t0001g0182 a0014c0027t0001g0181 a0014c0027t0001g0182	2	314	0.0064	-16	c.37 others(27): Show c.3797_*3812delAACACACACACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3493		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201075267	GCTGTAGC others(9): Show GCTGTAGCCAAACAACC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0031 a0031	a0031c0062 a0031c0062	a0031c0062t0001 a0031c0062t0001	a0031c0062t0001g0243 a0031c0062t0001g0243	1	314	0.0032	-16	c.194 others(33): Show c.1948+212_1948+227delGGTTGTTTGGCTACAG	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	13/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02630.hp1 HG02109.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0006 a0001c0004t0008 a0001c0001t0001 a0001c0004t0006 a0001c0004t0008	a0001c0001t0001g0058 a0001c0004t0006g0104 a0001c0004t0008g0024 a0001c0001t0001g0058 a0001c0004t0006g0104 a0001c0004t0008g0024	3	144	0.0208	-16	c.527 others(35): Show c.527-14538_527-14523delAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111394	GTATATAT others(9): Show GTATATATATATTCATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02717.hp1 HG03471.hp2 HG01433.hp1 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0001 a0001c0001t0001 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0077 a0001c0001t0020g0114 a0001c0002t0001g0026 a0001c0001t0001g0077 a0001c0001t0020g0114 a0001c0002t0001g0026	3	144	0.0208	-16	c.526 others(33): Show c.526+5634_526+5649delTATGAATATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186189	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG01884.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0068 a0001c0002t0001g0063 a0001c0001t0001g0068 a0001c0002t0001g0063	2	144	0.0139	-16	c.295 others(35): Show c.295-15596_295-15581delCCCTCCCTCCCTCCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82192460	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02257.hp2 others(8): Show HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02970.hp1 HG03195.hp2 NA18981.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0003t0001 a0001c0004t0006	a0001c0001t0001g0058 a0001c0001t0002g0100 a0001c0001t0004g0079 others(8): Show a0001c0001t0001g0058 a0001c0001t0002g0100 a0001c0001t0004g0079 a0001c0001t0005g0126 a0001c0001t0007g0060 a0001c0001t0007g0081 a0001c0001t0009g0027 a0001c0001t0011g0066 a0001c0001t0012g0127 a0001c0003t0001g0011 a0001c0004t0006g0104	11	144	0.0764	-16	c.295 others(35): Show c.295-21867_295-21852delCACACACACACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0059 a0001c0001t0008g0023 a0001c0001t0007g0059 a0001c0001t0008g0023	2	144	0.0139	-16	c.295 others(35): Show c.295-46801_295-46786delATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82288422	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG01243.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0043 a0001c0001t0009g0027 a0001c0001t0008g0043 a0001c0001t0009g0027	2	144	0.0139	-16	c.294 others(35): Show c.294+46697_294+46712delGTGTGTGTGTGTGTGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82370548	GGGATGGA others(9): Show GGGATGGATGGATGGAT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01891.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01891.hp1 HG02451.hp1 HG03041.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0004g0074 a0001c0001t0005g0105 a0001c0001t0005g0106 others(4): Show a0001c0001t0004g0074 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0007g0015 a0001c0001t0008g0083 a0001c0002t0001g0018 a0001c0002t0001g0040	7	144	0.0486	-16	c.96- others(33): Show c.96-20915_96-20900delATCCATCCATCCATCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82386735	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 NA21309.hp1 HG02109.hp1 HG02818.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0011 a0001c0004t0006 a0001c0001t0002 a0001c0001t0011 a0001c0004t0006	a0001c0001t0002g0097 a0001c0001t0011g0066 a0001c0004t0006g0104 a0001c0001t0002g0097 a0001c0001t0011g0066 a0001c0004t0006g0104	3	144	0.0208	-16	c.96- others(33): Show c.96-37102_96-37087delATTTATTTATTTATTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393075	AAGGAAGG others(9): Show AAGGAAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02630.hp1 HG02717.hp2 others(3): Show HG01074.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02970.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0002c0005t0002	a0001c0001t0001g0058 a0001c0001t0004g0079 a0001c0001t0005g0126 others(3): Show a0001c0001t0001g0058 a0001c0001t0004g0079 a0001c0001t0005g0126 a0001c0001t0010g0089 a0001c0001t0012g0127 a0002c0005t0002g0134	6	144	0.0417	-16	c.96- others(33): Show c.96-43442_96-43427delGCCTGCCTTCCTTCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393083	AAGGCAGG others(9): Show AAGGCAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG03225.hp2 HG01891.hp1 HG02109.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001	a0001c0001t0005g0136 a0001c0001t0009g0065 a0001c0002t0001g0018 a0001c0001t0005g0136 a0001c0001t0009g0065 a0001c0002t0001g0018	3	144	0.0208	-16	c.96- others(33): Show c.96-43450_96-43435delGCCTGCCTGCCTGCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50363305	CGAAGCCA others(9): Show CGAAGCCATTAATTAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0165 a0001c0001t0021g0165	1	234	0.0043	-16	c.13 others(27): Show c.1345_*1360delATTAATTAATGGCTTC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	38/38	1345		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149916	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	118	0.0085	-16	c.204 others(35): Show c.204+26326_204+26341delTCTCTCTCTCTCCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149920	TCTCTCTC others(9): Show TCTCTCTCTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02572.hp1 HG04204.hp2 HG00639.hp1 HG02572.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0037 a0001c0001t0001g0118 a0001c0005t0001g0111 a0001c0001t0001g0037 a0001c0001t0001g0118 a0001c0005t0001g0111	3	118	0.0254	-16	c.204 others(35): Show c.204+26330_204+26345delTCTCTCTCCCTCCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646126	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02080.hp2 others(3): Show HG01192.hp1 HG01192.hp2 HG02080.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0033 a0001c0042	a0001c0001t0001 a0001c0004t0001 a0001c0006t0007 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0007 a0001c0007t0001 a0001c0033t0001 a0001c0042t0001	a0001c0001t0001g0035 a0001c0004t0001g0095 a0001c0006t0007g0098 others(3): Show a0001c0001t0001g0035 a0001c0004t0001g0095 a0001c0006t0007g0098 a0001c0007t0001g0044 a0001c0033t0001g0114 a0001c0042t0001g0078	6	118	0.0509	-16	c.116 others(35): Show c.1167+3895_1167+3910delTTCCTTCCTTCCTTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646184	CTCCTTCC others(9): Show CTCCTTCCTTGCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01123.hp2 others(18): Show HG00280.hp2 HG01070.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG02080.hp2 HG02109.hp1 HG02486.hp1 HG02895.hp1 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18951.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0027 a0001c0033 a0001c0040 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0007t0001 a0001c0008t0001 a0001c0012t0011 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0027t0001 a0001c0033t0001 a0001c0040t0001 a0002c0020t0001	a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0001t0001g0100 others(18): Show a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0003 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 a0001c0003t0006g0064 a0001c0007t0001g0044 a0001c0008t0001g0092 a0001c0012t0011g0036 a0001c0014t0001g0102 a0001c0015t0001g0108 a0001c0017t0001g0025 a0001c0027t0001g0014 a0001c0033t0001g0114 a0001c0040t0001g0117 a0002c0020t0001g0021	21	118	0.1780	-16	c.116 others(35): Show c.1167+3953_1167+3968delGCTTCCTTCCTTCCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646194	GCTTCCTT others(9): Show GCTTCCTTCCTTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp2 HG03516.hp2 others(1): Show HG02280.hp2 HG03041.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 others(1): Show a0001c0002 a0001c0005 a0001c0007 a0001c0014	a0001c0002t0002 a0001c0005t0001 a0001c0007t0001 others(1): Show a0001c0002t0002 a0001c0005t0001 a0001c0007t0001 a0001c0014t0001	a0001c0002t0002g0091 a0001c0005t0001g0005 a0001c0007t0001g0067 others(1): Show a0001c0002t0002g0091 a0001c0005t0001g0005 a0001c0007t0001g0067 a0001c0014t0001g0071	4	118	0.0339	-16	c.116 others(35): Show c.1167+3992_1167+4007delTCCTTCCTTCCTTCCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54661838	ATGTGTGT others(9): Show ATGTGTGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00639.hp2 others(14): Show HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG02109.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02895.hp2 HG03195.hp1 HG03486.hp1 HG06807.hp1 NA19030.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0018 a0001c0025 a0001c0042	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0007 a0001c0008t0001 a0001c0011t0001 a0001c0012t0011 a0001c0014t0001 a0001c0018t0001 a0001c0025t0004 a0001c0042t0001	a0001c0001t0001g0045 a0001c0001t0001g0104 a0001c0001t0002g0003 others(14): Show a0001c0001t0001g0045 a0001c0001t0001g0104 a0001c0001t0002g0003 a0001c0002t0001g0082 a0001c0002t0002g0066 a0001c0005t0001g0111 a0001c0005t0003g0055 a0001c0006t0001g0009 a0001c0006t0007g0098 a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0011t0001g0099 a0001c0012t0011g0036 a0001c0014t0001g0102 a0001c0018t0001g0076 a0001c0025t0004g0106 a0001c0042t0001g0078	17	118	0.1441	-16	c.116 others(37): Show c.1167+19605_1167+19620delATGTGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736100	CATATATA others(9): Show CATATATATGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02280.hp1 HG02615.hp1 others(4): Show HG01070.hp1 HG02280.hp1 HG02615.hp1 HG02965.hp2 HG03471.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0001c0017 a0001c0034	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0001c0017t0001 a0001c0034t0001	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0003t0001g0084 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0013t0001g0105 a0001c0017t0001g0025 a0001c0034t0001g0086	7	118	0.0593	-16	c.116 others(37): Show c.1168-16495_1168-16480delTATATGTATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763812	CATATATA others(9): Show CATATATATATACGTAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0048 a0001c0032t0001g0048	1	118	0.0085	-16	c.124 others(33): Show c.1247-399_1247-384delATATACGTATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763858	CATATATA others(9): Show CATATATATATACGTAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0048 a0001c0032t0001g0048	1	118	0.0085	-16	c.124 others(33): Show c.1247-353_1247-338delATATACGTATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 NA19043.hp2 HG02976.hp1 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0037 a0001c0001 a0001c0003 a0001c0037	a0001c0001t0012 a0001c0003t0001 a0001c0037t0004 a0001c0001t0012 a0001c0003t0001 a0001c0037t0004	a0001c0001t0012g0063 a0001c0003t0001g0042 a0001c0037t0004g0019 a0001c0001t0012g0063 a0001c0003t0001g0042 a0001c0037t0004g0019	3	118	0.0254	-16	c.138 others(35): Show c.1381-5353_1381-5338delTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821641	GTTCTTTC others(9): Show GTTCTTTCTTTCTTTCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01255.hp1 others(3): Show HG00099.hp1 HG01106.hp2 HG01255.hp1 HG02486.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0029	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0029t0001	a0001c0001t0001g0087 a0001c0001t0002g0003 a0001c0002t0001g0012 others(3): Show a0001c0001t0001g0087 a0001c0001t0002g0003 a0001c0002t0001g0012 a0001c0005t0001g0005 a0001c0008t0001g0074 a0001c0029t0001g0096	6	118	0.0509	-16	c.139 others(35): Show c.1398+4815_1398+4830delTTTCTTTCTTTCTTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar

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