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
CACNA1D_chr3_53489611_53818733	53663777	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG03471.hp1 others(2): Show HG02486.hp2 HG02723.hp1 HG03471.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0023 a0001c0009 a0001c0023	a0001c0009t0017 a0001c0009t0029 a0001c0009t0056 others(2): Show a0001c0009t0017 a0001c0009t0029 a0001c0009t0056 a0001c0009t0076 a0001c0023t0077	a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 others(2): Show a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0076g0032 a0001c0023t0077g0200	5	210	0.0238	8	c.767 others(25): Show c.767-1869_767-1862dupCTCTCTCT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	5/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp2 HG01978.hp1 others(1): Show HG00280.hp2 HG01884.hp2 HG01978.hp1 NA18974.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0037 others(1): Show a0001c0003t0001 a0001c0003t0008 a0001c0003t0037 a0001c0003t0061	a0001c0003t0001g0161 a0001c0003t0008g0073 a0001c0003t0037g0038 others(1): Show a0001c0003t0001g0161 a0001c0003t0008g0073 a0001c0003t0037g0038 a0001c0003t0061g0176	4	210	0.0191	8	c.111 others(25): Show c.1117-901_1117-894dupGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGAG others(1): Show TGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03516.hp1 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0069 a0001c0021t0035 a0001c0002t0069 a0001c0021t0035	a0001c0002t0069g0039 a0001c0021t0035g0205 a0001c0002t0069g0039 a0001c0021t0035g0205	2	210	0.0095	8	c.139 others(27): Show c.1391-4757_1391-4756insTGTGAGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(1): Show TGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02559.hp1 others(6): Show HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02896.hp1 NA18962.hp1 NA18982.hp2 NA19002.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0016	a0001c0001t0014 a0001c0002t0005 a0001c0002t0006 others(3): Show a0001c0001t0014 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0003t0023 a0002c0016t0059	a0001c0001t0014g0031 a0001c0002t0005g0071 a0001c0002t0005g0103 others(6): Show a0001c0001t0014g0031 a0001c0002t0005g0071 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0123 a0001c0002t0006g0180 a0001c0002t0007g0035 a0001c0003t0023g0118 a0002c0016t0059g0208	9	210	0.0429	8	c.139 others(27): Show c.1391-4757_1391-4756insTGTGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53733930	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG06807.hp1 others(1): Show HG03453.hp2 HG03471.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0013 a0001c0007t0031 a0001c0007t0066 a0001c0002t0013 a0001c0007t0031 a0001c0007t0066	a0001c0002t0013g0021 a0001c0007t0031g0187 a0001c0007t0031g0194 others(1): Show a0001c0002t0013g0021 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0007t0066g0199	4	210	0.0191	8	c.268 others(25): Show c.2681+984_2681+991dupGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	20/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53747781	C C	CCATTCAT others(1): Show CCATTCATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG03041.hp2 others(3): Show HG02723.hp2 HG02886.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0036 a0001c0002t0060 a0001c0002t0006 a0001c0002t0036 a0001c0002t0060	a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 others(3): Show a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0036g0033 a0001c0002t0036g0202 a0001c0002t0060g0144	6	210	0.0286	8	c.337 others(25): Show c.3374+363_3374+370dupATTCATTC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	27/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782262	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19030.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0031 a0001c0007t0066 a0001c0007t0031 a0001c0007t0066	a0001c0007t0031g0187 a0001c0007t0066g0199 a0001c0007t0031g0187 a0001c0007t0066g0199	2	210	0.0095	8	c.485 others(25): Show c.4852+596_4852+597insATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01496.hp1 others(14): Show HG00323.hp1 HG00621.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02602.hp2 HG02965.hp1 HG03017.hp1 HG03704.hp1 NA19240.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0019 a0001c0002t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0052 a0001c0005t0007 a0001c0009t0056 a0005c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0173 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0003g0128 a0001c0002t0005g0098 a0001c0002t0013g0003 a0001c0002t0019g0126 a0001c0002t0025g0067 a0001c0003t0001g0167 a0001c0003t0002g0089 a0001c0003t0002g0093 a0001c0003t0052g0120 a0001c0005t0007g0174 a0001c0009t0056g0184 a0005c0015t0001g0141	17	210	0.0810	8	c.485 others(25): Show c.4852+619_4852+626dupATATATAT	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(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01175.hp1 others(8): Show HG00323.hp2 HG00642.hp1 HG01175.hp1 HG01256.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp2 HG02683.hp1 HG03540.hp1 HG06807.hp1 NA18961.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0003c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0045 a0001c0002t0019 a0001c0003t0004 a0001c0003t0037 a0001c0004t0004 a0001c0007t0031 a0003c0019t0001	a0001c0001t0002g0122 a0001c0001t0004g0207 a0001c0001t0022g0056 others(8): Show a0001c0001t0002g0122 a0001c0001t0004g0207 a0001c0001t0022g0056 a0001c0001t0045g0063 a0001c0002t0019g0115 a0001c0003t0004g0162 a0001c0003t0037g0020 a0001c0003t0037g0038 a0001c0004t0004g0147 a0001c0007t0031g0194 a0003c0019t0001g0016	11	210	0.0524	8	c.485 others(25): Show c.4852+598_4852+599insGTATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01081.hp2 others(7): Show HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG02280.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp2 NA18961.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0024	a0001c0001t0002 a0001c0001t0048 a0001c0002t0051 others(7): Show a0001c0001t0002 a0001c0001t0048 a0001c0002t0051 a0001c0002t0054 a0001c0002t0064 a0001c0003t0002 a0001c0005t0062 a0001c0010t0002 a0001c0012t0006 a0001c0024t0079	a0001c0001t0002g0091 a0001c0001t0048g0086 a0001c0002t0051g0121 others(7): Show a0001c0001t0002g0091 a0001c0001t0048g0086 a0001c0002t0051g0121 a0001c0002t0054g0005 a0001c0002t0064g0042 a0001c0003t0002g0065 a0001c0005t0062g0148 a0001c0010t0002g0092 a0001c0012t0006g0132 a0001c0024t0079g0040	10	210	0.0476	8	c.498 others(25): Show c.4983+495_4983+502dupGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181481335	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00741.hp2 others(8): Show HG00280.hp1 HG00597.hp2 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG03209.hp1 NA18942.hp2 NA18988.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0002c0030 a0008c0028	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0076 a0001c0011t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0030t0079 a0008c0028t0068	a0001c0001t0003g0044 a0001c0001t0004g0078 a0001c0001t0006g0050 others(8): Show a0001c0001t0003g0044 a0001c0001t0004g0078 a0001c0001t0006g0050 a0001c0001t0017g0045 a0001c0001t0076g0087 a0001c0011t0004g0091 a0002c0002t0001g0023 a0002c0002t0003g0051 a0002c0002t0007g0069 a0002c0030t0079g0006 a0008c0028t0068g0055	11	206	0.0534	8	c.-24 others(19): Show c.-2410_-2409insACACACAC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding		2181		chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181508147	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01258.hp1 others(9): Show HG00597.hp2 HG00673.hp2 HG01258.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02523.hp1 HG02922.hp2 HG03471.hp2 NA18964.hp1 NA18968.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(7): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0004t0008 a0001c0004t0045 a0001c0005t0026 a0002c0002t0003 a0002c0002t0015 a0002c0002t0044	a0001c0001t0003g0044 a0001c0001t0006g0042 a0001c0001t0009g0049 others(9): Show a0001c0001t0003g0044 a0001c0001t0006g0042 a0001c0001t0009g0049 a0001c0001t0017g0045 a0001c0001t0017g0046 a0001c0004t0008g0032 a0001c0004t0045g0047 a0001c0005t0026g0031 a0002c0002t0003g0043 a0002c0002t0003g0051 a0002c0002t0015g0108 a0002c0002t0044g0053	12	206	0.0583	8	c.267 others(25): Show c.267-2309_267-2302dupTGTGTGTG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181548130	T T	TTTCTTTT others(1): Show TTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0002c0002 a0003c0003 a0003c0010 a0003c0014 a0007c0019 a0008c0028	a0001c0001t0011 a0001c0001t0024 a0001c0001t0048 others(12): Show a0001c0001t0011 a0001c0001t0024 a0001c0001t0048 a0001c0001t0073 a0001c0004t0010 a0001c0005t0032 a0001c0006t0025 a0001c0008t0008 a0001c0009t0018 a0002c0002t0020 a0003c0003t0072 a0003c0010t0002 a0003c0014t0069 a0007c0019t0041 a0008c0028t0068	a0001c0001t0011g0038 a0001c0001t0011g0068 a0001c0001t0024g0112 others(14): Show a0001c0001t0011g0038 a0001c0001t0011g0068 a0001c0001t0024g0112 a0001c0001t0048g0054 a0001c0001t0073g0114 a0001c0004t0010g0067 a0001c0005t0032g0099 a0001c0006t0025g0111 a0001c0008t0008g0030 a0001c0008t0008g0039 a0001c0009t0018g0041 a0002c0002t0020g0129 a0003c0003t0072g0066 a0003c0010t0002g0113 a0003c0014t0069g0196 a0007c0019t0041g0116 a0008c0028t0068g0055	17	206	0.0825	8	c.513 others(27): Show c.513-29634_513-29633insCTTTTCTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181596557	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG01934.hp2 others(5): Show HG01358.hp1 HG01496.hp1 HG01934.hp2 HG02132.hp2 NA18968.hp2 NA19057.hp1 NA19057.hp2 NA19084.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0015 a0002c0002t0049 a0003c0003t0001	a0001c0001t0005g0089 a0001c0001t0006g0075 a0001c0001t0006g0183 others(5): Show a0001c0001t0005g0089 a0001c0001t0006g0075 a0001c0001t0006g0183 a0001c0001t0007g0121 a0001c0001t0007g0136 a0002c0002t0015g0048 a0002c0002t0049g0169 a0003c0003t0001g0149	8	206	0.0388	8	c.951 others(27): Show c.951+15814_951+15821dupGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181759395	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0035 a0003c0010t0002g0113 a0003c0010t0002g0035 a0003c0010t0002g0113	2	206	0.0097	8	c.460 others(25): Show c.4605+551_4605+558dupGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	32/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00673.hp1 others(25): Show HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03710.hp1 HG03834.hp2 NA18972.hp1 NA18983.hp1 NA18988.hp1 NA19003.hp2 NA19082.hp1 NA19085.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0004 a0001c0024 a0003c0003 others(3): Show a0001c0004 a0001c0024 a0003c0003 a0003c0014 a0004c0007 a0011c0017	a0001c0004t0002 a0001c0024t0067 a0003c0003t0001 others(12): Show a0001c0004t0002 a0001c0024t0067 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0003t0010 a0003c0003t0014 a0003c0003t0022 a0003c0003t0023 a0003c0003t0060 a0003c0003t0072 a0003c0014t0069 a0004c0007t0023 a0004c0007t0046 a0011c0017t0001	a0001c0004t0002g0071 a0001c0024t0067g0004 a0003c0003t0001g0009 others(25): Show a0001c0004t0002g0071 a0001c0024t0067g0004 a0003c0003t0001g0009 a0003c0003t0001g0076 a0003c0003t0001g0096 a0003c0003t0001g0106 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0149 a0003c0003t0001g0200 a0003c0003t0004g0124 a0003c0003t0005g0083 a0003c0003t0005g0152 a0003c0003t0005g0170 a0003c0003t0005g0180 a0003c0003t0005g0190 a0003c0003t0005g0192 a0003c0003t0010g0127 a0003c0003t0014g0082 a0003c0003t0022g0177 a0003c0003t0022g0193 a0003c0003t0023g0182 a0003c0003t0060g0079 a0003c0003t0072g0066 a0003c0014t0069g0196 a0004c0007t0023g0011 a0004c0007t0046g0007 a0011c0017t0001g0020	28	206	0.1359	8	c.526 others(27): Show c.5268-1584_5268-1577dupCACACACA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49235826	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01884.hp2 HG01934.hp1 others(9): Show HG00738.hp1 HG01884.hp2 HG01934.hp1 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03195.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0129 a0003c0004t0001g0006 a0003c0004t0001g0036 others(4): Show a0001c0001t0001g0129 a0003c0004t0001g0006 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0171	12	290	0.0414	8	c.-25 others(19): Show c.-2525_-2518dupGTGTGTGT	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2487		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235851	A A	ACACACAC others(1): Show ACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19058.hp1 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0009 a0014 a0017	a0001c0002 a0001c0006 a0001c0017 others(8): Show a0001c0002 a0001c0006 a0001c0017 a0002c0003 a0002c0014 a0002c0015 a0005c0009 a0006c0026 a0009c0013 a0014c0016 a0017c0010	a0001c0002t0001 a0001c0006t0001 a0001c0017t0001 others(8): Show a0001c0002t0001 a0001c0006t0001 a0001c0017t0001 a0002c0003t0001 a0002c0014t0001 a0002c0015t0001 a0005c0009t0001 a0006c0026t0001 a0009c0013t0001 a0014c0016t0001 a0017c0010t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 others(63): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0006t0001g0016 a0001c0006t0001g0025 a0001c0006t0001g0081 a0001c0017t0001g0079 a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0014 a0002c0003t0001g0017 a0002c0003t0001g0026 a0002c0003t0001g0065 a0002c0003t0001g0069 a0002c0003t0001g0080 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0101 a0002c0003t0001g0104 a0002c0003t0001g0107 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0177 a0002c0014t0001g0084 a0002c0015t0001g0086 a0005c0009t0001g0059 a0006c0026t0001g0114 a0009c0013t0001g0077 a0014c0016t0001g0078 a0017c0010t0001g0061	101	290	0.3483	8	c.-25 others(19): Show c.-2543_-2542insCGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2512		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235861	A A	ACACACAC others(1): Show ACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0053 a0004c0005t0001g0053	1	290	0.0035	8	c.-25 others(19): Show c.-2553_-2552insCGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2522		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02818.hp1 others(2): Show HG01243.hp1 HG02145.hp1 HG02818.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0003t0002 a0001c0013t0001 a0001c0003t0001 a0001c0003t0002 a0001c0013t0001	a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 others(2): Show a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0002g0216 a0001c0013t0001g0136	5	246	0.0203	8	c.242 others(25): Show c.242+2455_242+2462dupGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTT others(1): Show TGTGTGTTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 NA18906.hp1 others(1): Show HG02976.hp1 HG03453.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0044 a0001c0011 a0001c0044	a0001c0011t0001 a0001c0011t0002 a0001c0011t0004 others(1): Show a0001c0011t0001 a0001c0011t0002 a0001c0011t0004 a0001c0044t0001	a0001c0011t0001g0193 a0001c0011t0002g0236 a0001c0011t0004g0142 others(1): Show a0001c0011t0001g0193 a0001c0011t0002g0236 a0001c0011t0004g0142 a0001c0044t0001g0212	4	246	0.0163	8	c.354 others(21): Show c.354+34_354+35insGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 HG03471.hp2 HG01891.hp1 HG02922.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0019 a0001c0006 a0004c0019	a0001c0006t0001 a0004c0019t0002 a0001c0006t0001 a0004c0019t0002	a0001c0006t0001g0213 a0004c0019t0002g0064 a0004c0019t0002g0071 a0001c0006t0001g0213 a0004c0019t0002g0064 a0004c0019t0002g0071	3	246	0.0122	8	c.586 others(23): Show c.586+779_586+786dupTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCGGCG others(1): Show GGTCGGCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp2 HG03225.hp2 HG01261.hp2 HG01981.hp2 HG03225.hp2	a0003 a0016 a0017 a0003 a0016 a0017	a0003c0015 a0016c0026 a0017c0064 a0003c0015 a0016c0026 a0017c0064	a0003c0015t0017 a0016c0026t0008 a0017c0064t0032 a0003c0015t0017 a0016c0026t0008 a0017c0064t0032	a0003c0015t0017g0271 a0016c0026t0008g0279 a0017c0064t0032g0276 a0003c0015t0017g0271 a0016c0026t0008g0279 a0017c0064t0032g0276	3	338	0.0089	8	c.300 others(25): Show c.300-9106_300-9105insTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185911	G G	GGTCAGCG others(1): Show GGTCAGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02717.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG02717.hp1 HG03540.hp1 NA19030.hp1	a0002 a0003 a0054 a0002 a0003 a0054	a0002c0002 a0002c0063 a0003c0028 others(2): Show a0002c0002 a0002c0063 a0003c0028 a0003c0068 a0054c0074	a0002c0002t0001 a0002c0063t0001 a0003c0028t0004 others(2): Show a0002c0002t0001 a0002c0063t0001 a0003c0028t0004 a0003c0068t0004 a0054c0074t0001	a0002c0002t0001g0284 a0002c0063t0001g0287 a0003c0028t0004g0028 others(2): Show a0002c0002t0001g0284 a0002c0063t0001g0287 a0003c0028t0004g0028 a0003c0068t0004g0290 a0054c0074t0001g0283	5	338	0.0148	8	c.300 others(25): Show c.300-9060_300-9059insTCAGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185911	G G	GGTCGGCG others(1): Show GGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01261.hp2 others(11): Show HG00423.hp2 HG01081.hp2 HG01261.hp2 HG02040.hp1 HG02486.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp2 HG04204.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0017 a0059	a0001c0001 a0002c0002 a0002c0007 others(8): Show a0001c0001 a0002c0002 a0002c0007 a0002c0055 a0002c0135 a0003c0015 a0003c0022 a0003c0060 a0017c0064 a0017c0066 a0059c0079	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0034 a0002c0002t0001 a0002c0007t0002 a0002c0055t0001 a0002c0135t0043 a0003c0015t0017 a0003c0022t0020 a0003c0060t0039 a0017c0064t0032 a0017c0066t0025 a0059c0079t0004	a0001c0001t0001g0296 a0001c0001t0002g0156 a0001c0001t0022g0298 others(11): Show a0001c0001t0001g0296 a0001c0001t0002g0156 a0001c0001t0022g0298 a0001c0001t0034g0117 a0002c0002t0001g0018 a0002c0007t0002g0237 a0002c0055t0001g0215 a0002c0135t0043g0282 a0003c0015t0017g0271 a0003c0022t0020g0025 a0003c0060t0039g0317 a0017c0064t0032g0276 a0017c0066t0025g0232 a0059c0079t0004g0036	14	338	0.0414	8	c.300 others(25): Show c.300-9060_300-9059insTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186057	G G	GGTCGGCG others(1): Show GGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01261.hp2 others(18): Show HG00558.hp1 HG00558.hp2 HG01261.hp2 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp1 NA18959.hp2 NA18980.hp1 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0016 a0017 a0030 a0059 a0065 a0067 a0068 a0080	a0001c0001 a0002c0002 a0002c0007 others(15): Show a0001c0001 a0002c0002 a0002c0007 a0002c0039 a0002c0055 a0002c0058 a0003c0015 a0003c0028 a0003c0060 a0016c0026 a0017c0064 a0017c0066 a0030c0067 a0059c0079 a0065c0042 a0067c0130 a0068c0118 a0080c0045	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0007t0002 a0002c0007t0010 a0002c0039t0003 a0002c0055t0001 a0002c0058t0023 a0003c0015t0017 a0003c0028t0004 a0003c0060t0039 a0016c0026t0008 a0017c0064t0032 a0017c0066t0025 a0030c0067t0020 a0059c0079t0004 a0065c0042t0003 a0067c0130t0004 a0068c0118t0010 a0080c0045t0005	a0001c0001t0001g0322 a0001c0001t0002g0127 a0002c0002t0001g0018 others(18): Show a0001c0001t0001g0322 a0001c0001t0002g0127 a0002c0002t0001g0018 a0002c0002t0001g0042 a0002c0007t0002g0237 a0002c0007t0010g0062 a0002c0039t0003g0229 a0002c0055t0001g0215 a0002c0058t0023g0027 a0003c0015t0017g0271 a0003c0028t0004g0325 a0003c0060t0039g0317 a0016c0026t0008g0279 a0017c0064t0032g0276 a0017c0066t0025g0232 a0030c0067t0020g0323 a0059c0079t0004g0036 a0065c0042t0003g0230 a0067c0130t0004g0309 a0068c0118t0010g0128 a0080c0045t0005g0274	21	338	0.0621	8	c.300 others(25): Show c.300-8914_300-8913insTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1214580	G G	GCCCATGT others(1): Show GCCCATGTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02970.hp1 NA18967.hp1 others(4): Show HG00597.hp1 HG02970.hp1 NA18967.hp1 NA18970.hp2 NA19011.hp1 NA19085.hp1 NA19085.hp2	a0001 a0063 a0001 a0063	a0001c0001 a0063c0044 a0001c0001 a0063c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0063c0044t0006	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0327 a0001c0001t0002g0065 a0001c0001t0024g0106 a0063c0044t0006g0126	7	338	0.0207	8	c.493 others(25): Show c.4930-380_4930-373dupATGTCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39570246	C C	CCCTTCCT others(1): Show CCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02698.hp2 HG04204.hp1 HG01993.hp1 HG02698.hp2 HG04204.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0004c0004 a0006c0012 a0002c0003 a0004c0004 a0006c0012	a0002c0003t0025 a0004c0004t0059 a0006c0012t0003 a0002c0003t0025 a0004c0004t0059 a0006c0012t0003	a0002c0003t0025g0028 a0004c0004t0059g0058 a0006c0012t0003g0013 a0002c0003t0025g0028 a0004c0004t0059g0058 a0006c0012t0003g0013	3	236	0.0127	8	c.-50 others(17): Show c.-507_-506insCCTTCCTT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		506		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTCCCTCC others(1): Show TTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01515.hp2 HG01516.hp2 others(14): Show HG00544.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02886.hp2 HG02976.hp2 HG03486.hp1 HG03516.hp2 NA18612.hp2 NA18947.hp2 NA18966.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0018 a0002c0003 others(1): Show a0001c0001 a0001c0018 a0002c0003 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0039 a0001c0001t0046 a0001c0018t0002 a0002c0003t0001 a0005c0007t0006 a0005c0007t0060	a0001c0001t0002g0117 a0001c0001t0003g0114 a0001c0001t0003g0116 others(14): Show a0001c0001t0002g0117 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0151 a0001c0001t0008g0131 a0001c0001t0039g0121 a0001c0001t0046g0115 a0001c0018t0002g0157 a0001c0018t0002g0158 a0002c0003t0001g0163 a0005c0007t0006g0096 a0005c0007t0006g0097 a0005c0007t0006g0098 a0005c0007t0006g0099 a0005c0007t0006g0100 a0005c0007t0006g0101 a0005c0007t0060g0095	17	236	0.0720	8	c.-46 others(17): Show c.-464_-463insTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39586493	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01175.hp1 others(7): Show HG00639.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp2 HG02145.hp1 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp2 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0014 a0001c0020 a0001c0026 others(4): Show a0001c0014 a0001c0020 a0001c0026 a0002c0003 a0003c0008 a0003c0024 a0012c0021	a0001c0014t0012 a0001c0020t0001 a0001c0026t0056 others(5): Show a0001c0014t0012 a0001c0020t0001 a0001c0026t0056 a0002c0003t0001 a0003c0008t0005 a0003c0008t0006 a0003c0024t0005 a0012c0021t0022	a0001c0014t0012g0126 a0001c0020t0001g0176 a0001c0026t0056g0071 others(7): Show a0001c0014t0012g0126 a0001c0020t0001g0176 a0001c0026t0056g0071 a0002c0003t0001g0073 a0003c0008t0005g0177 a0003c0008t0006g0093 a0003c0008t0006g0094 a0003c0024t0005g0174 a0003c0024t0005g0175 a0012c0021t0022g0087	10	236	0.0424	8	c.237 others(27): Show c.237-11634_237-11627dupTAAATAAA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601892	A A	ACCCTCCC others(1): Show ACCCTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(71): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00733.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18982.hp1 NA18982.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0015 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0009 others(13): Show a0001c0001 a0001c0002 a0001c0009 a0001c0030 a0001c0046 a0001c0050 a0002c0003 a0002c0032 a0004c0006 a0004c0049 a0006c0012 a0006c0015 a0015c0043 a0022c0037 a0023c0048 a0024c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0038 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0045 a0001c0009t0003 a0001c0009t0004 a0001c0009t0007 a0001c0030t0005 a0001c0046t0003 a0001c0050t0003 a0002c0003t0001 a0002c0032t0013 a0004c0006t0014 a0004c0006t0023 a0004c0006t0037 a0004c0049t0040 a0006c0012t0003 a0006c0015t0002 a0015c0043t0007 a0022c0037t0041 a0023c0048t0002 a0024c0035t0044	a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 others(71): Show a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0004g0133 a0001c0001t0009g0134 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0038g0161 a0001c0001t0047g0168 a0001c0001t0048g0128 a0001c0001t0050g0153 a0001c0002t0002g0179 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0210 a0001c0002t0002g0213 a0001c0002t0002g0223 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0180 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0003g0212 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0228 a0001c0002t0004g0184 a0001c0002t0004g0187 a0001c0002t0004g0190 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0209 a0001c0002t0004g0233 a0001c0002t0007g0196 a0001c0002t0007g0214 a0001c0002t0007g0218 a0001c0002t0007g0229 a0001c0002t0011g0069 a0001c0002t0014g0226 a0001c0002t0017g0215 a0001c0002t0045g0195 a0001c0009t0003g0103 a0001c0009t0004g0132 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0030t0005g0127 a0001c0046t0003g0185 a0001c0050t0003g0201 a0002c0003t0001g0156 a0002c0003t0001g0159 a0002c0032t0013g0224 a0004c0006t0014g0208 a0004c0006t0023g0227 a0004c0006t0037g0216 a0004c0049t0040g0182 a0006c0012t0003g0013 a0006c0015t0002g0188 a0006c0015t0002g0221 a0006c0015t0002g0225 a0015c0043t0007g0149 a0022c0037t0041g0166 a0023c0048t0002g0211 a0024c0035t0044g0167	74	236	0.3136	8	c.482 others(25): Show c.482+1258_482+1265dupCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601979	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(58): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00733.hp1 HG01071.hp2 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp1 NA18969.hp2 NA18982.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0015 a0022 a0023	a0001c0001 a0001c0002 a0001c0009 others(13): Show a0001c0001 a0001c0002 a0001c0009 a0001c0030 a0001c0046 a0001c0050 a0002c0003 a0002c0032 a0004c0006 a0004c0049 a0005c0007 a0006c0012 a0006c0015 a0015c0043 a0022c0037 a0023c0048	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0048 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0045 a0001c0009t0003 a0001c0009t0004 a0001c0009t0007 a0001c0030t0005 a0001c0046t0003 a0001c0050t0003 a0002c0003t0001 a0002c0032t0013 a0004c0006t0014 a0004c0006t0023 a0004c0006t0037 a0004c0049t0040 a0005c0007t0006 a0006c0012t0003 a0006c0015t0002 a0015c0043t0007 a0022c0037t0041 a0023c0048t0002	a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 others(58): Show a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0160 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0048g0128 a0001c0001t0050g0153 a0001c0002t0002g0179 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0213 a0001c0002t0002g0223 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0180 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0003g0212 a0001c0002t0003g0222 a0001c0002t0003g0228 a0001c0002t0004g0187 a0001c0002t0004g0190 a0001c0002t0004g0233 a0001c0002t0007g0196 a0001c0002t0007g0214 a0001c0002t0007g0218 a0001c0002t0007g0229 a0001c0002t0011g0069 a0001c0002t0014g0226 a0001c0002t0017g0215 a0001c0002t0045g0195 a0001c0009t0003g0103 a0001c0009t0004g0132 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0030t0005g0127 a0001c0046t0003g0185 a0001c0050t0003g0201 a0002c0003t0001g0156 a0002c0003t0001g0159 a0002c0032t0013g0224 a0004c0006t0014g0208 a0004c0006t0023g0227 a0004c0006t0037g0216 a0004c0049t0040g0182 a0005c0007t0006g0096 a0006c0012t0003g0013 a0006c0015t0002g0188 a0006c0015t0002g0221 a0006c0015t0002g0225 a0015c0043t0007g0149 a0022c0037t0041g0166 a0023c0048t0002g0211	61	236	0.2585	8	c.482 others(25): Show c.482+1341_482+1348dupTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39620012	T T	TATCCATC others(1): Show TATCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(58): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG03098.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18982.hp1 NA18982.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0015 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0009 others(16): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0018 a0001c0020 a0002c0003 a0002c0032 a0003c0008 a0003c0024 a0004c0004 a0004c0006 a0004c0049 a0006c0012 a0006c0015 a0015c0043 a0022c0037 a0023c0048 a0024c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0050 a0001c0001t0057 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0009t0004 a0001c0009t0007 a0001c0014t0012 a0001c0018t0002 a0001c0020t0001 a0002c0003t0001 a0002c0032t0013 a0003c0008t0006 a0003c0024t0005 a0004c0004t0016 a0004c0006t0014 a0004c0006t0018 a0004c0006t0023 a0004c0006t0037 a0004c0049t0040 a0006c0012t0003 a0006c0015t0002 a0015c0043t0007 a0022c0037t0041 a0023c0048t0002 a0024c0035t0044	a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 others(58): Show a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0050g0153 a0001c0001t0057g0067 a0001c0002t0002g0179 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0205 a0001c0002t0002g0210 a0001c0002t0002g0213 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0186 a0001c0002t0003g0212 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0228 a0001c0002t0004g0184 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0209 a0001c0002t0004g0233 a0001c0002t0007g0196 a0001c0002t0007g0203 a0001c0002t0007g0214 a0001c0002t0007g0218 a0001c0002t0007g0229 a0001c0002t0011g0069 a0001c0002t0014g0226 a0001c0009t0004g0132 a0001c0009t0007g0135 a0001c0014t0012g0126 a0001c0018t0002g0157 a0001c0018t0002g0158 a0001c0020t0001g0176 a0002c0003t0001g0159 a0002c0032t0013g0224 a0003c0008t0006g0093 a0003c0024t0005g0174 a0004c0004t0016g0150 a0004c0006t0014g0207 a0004c0006t0014g0208 a0004c0006t0018g0178 a0004c0006t0023g0227 a0004c0006t0037g0216 a0004c0049t0040g0182 a0006c0012t0003g0013 a0006c0015t0002g0221 a0006c0015t0002g0225 a0015c0043t0007g0149 a0022c0037t0041g0166 a0023c0048t0002g0211 a0024c0035t0044g0167	61	236	0.2585	8	c.580 others(23): Show c.580+639_580+646dupTCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686617	T T	TATATATG others(1): Show TATATATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG02976.hp2 others(1): Show HG00639.hp1 HG01978.hp2 HG02976.hp2 HG04184.hp1	a0001 a0008 a0019 a0001 a0008 a0019	a0001c0001 a0001c0002 a0008c0047 others(1): Show a0001c0001 a0001c0002 a0008c0047 a0019c0040	a0001c0001t0039 a0001c0002t0017 a0008c0047t0017 others(1): Show a0001c0001t0039 a0001c0002t0017 a0008c0047t0017 a0019c0040t0033	a0001c0001t0039g0121 a0001c0002t0017g0215 a0008c0047t0017g0202 others(1): Show a0001c0001t0039g0121 a0001c0002t0017g0215 a0008c0047t0017g0202 a0019c0040t0033g0076	4	236	0.0170	8	c.21 others(17): Show c.218_*219insGCATATAT	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(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01106.hp1 others(7): Show HG00597.hp1 HG00735.hp1 HG01106.hp1 HG01884.hp1 HG02071.hp2 HG02886.hp2 HG04184.hp2 NA18984.hp2 NA19076.hp1 NA19079.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0001c0014 others(3): Show a0001c0001 a0001c0003 a0001c0014 a0003c0005 a0003c0056 a0008c0039	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0003c0005t0001 a0003c0056t0001 a0008c0039t0002	a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0247 others(7): Show a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0247 a0001c0003t0001g0144 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0014t0001g0252 a0003c0005t0001g0110 a0003c0056t0001g0176 a0008c0039t0002g0298	10	314	0.0319	8	c.40 others(19): Show c.4012_*4013insAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201036004	T T	TTGTGTGT others(1): Show TTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01175.hp1 others(3): Show HG00639.hp1 HG01123.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp2 HG01993.hp2	a0002 a0007 a0011 others(2): Show a0002 a0007 a0011 a0029 a0033	a0002c0012 a0007c0036 a0011c0034 others(2): Show a0002c0012 a0007c0036 a0011c0034 a0029c0087 a0033c0097	a0002c0012t0001 a0007c0036t0001 a0011c0034t0001 others(2): Show a0002c0012t0001 a0007c0036t0001 a0011c0034t0001 a0029c0087t0001 a0033c0097t0001	a0002c0012t0001g0194 a0007c0036t0001g0244 a0011c0034t0001g0001 others(2): Show a0002c0012t0001g0194 a0007c0036t0001g0244 a0011c0034t0001g0001 a0029c0087t0001g0019 a0033c0097t0001g0036	6	314	0.0191	8	c.38 others(19): Show c.3826_*3827insCACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3507		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056070	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01928.hp2 others(19): Show HG01070.hp2 HG01884.hp2 HG01928.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG06807.hp1 NA19070.hp1 NA19240.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0001c0002 a0001c0009 others(7): Show a0001c0001 a0001c0002 a0001c0009 a0002c0008 a0002c0012 a0002c0023 a0002c0047 a0002c0089 a0007c0081 a0010c0019	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 a0002c0012t0001 a0002c0023t0001 a0002c0023t0002 a0002c0047t0001 a0002c0089t0001 a0007c0081t0001 a0010c0019t0001	a0001c0001t0001g0128 a0001c0002t0001g0148 a0001c0009t0001g0006 others(18): Show a0001c0001t0001g0128 a0001c0002t0001g0148 a0001c0009t0001g0006 a0001c0009t0001g0265 a0002c0008t0001g0038 a0002c0008t0001g0042 a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0008t0001g0250 a0002c0008t0001g0275 a0002c0012t0001g0245 a0002c0012t0001g0261 a0002c0012t0001g0270 a0002c0023t0001g0227 a0002c0023t0002g0300 a0002c0047t0001g0187 a0002c0089t0001g0054 a0007c0081t0001g0023 a0010c0019t0001g0164 a0010c0019t0001g0188	22	314	0.0701	8	c.361 others(27): Show c.3610-1517_3610-1510dupGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201095121	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00621.hp1 others(48): Show HG00280.hp1 HG00323.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18984.hp2 NA18986.hp1 NA19010.hp1 NA19065.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0014 a0020 a0025 a0034 a0035 a0036	a0001c0001 a0001c0004 a0001c0009 others(20): Show a0001c0001 a0001c0004 a0001c0009 a0001c0011 a0001c0025 a0001c0026 a0001c0050 a0001c0063 a0002c0008 a0002c0012 a0002c0023 a0003c0015 a0003c0056 a0004c0043 a0005c0044 a0005c0054 a0005c0094 a0014c0027 a0020c0076 a0025c0059 a0034c0095 a0035c0096 a0036c0040	a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 others(21): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0025t0001 a0001c0026t0001 a0001c0050t0001 a0001c0063t0001 a0002c0008t0001 a0002c0012t0001 a0002c0023t0001 a0002c0023t0002 a0003c0015t0001 a0003c0056t0001 a0004c0043t0001 a0005c0044t0001 a0005c0054t0001 a0005c0094t0001 a0014c0027t0001 a0020c0076t0001 a0025c0059t0001 a0034c0095t0001 a0035c0096t0001 a0036c0040t0001	a0001c0001t0001g0163 a0001c0001t0001g0239 a0001c0004t0001g0018 others(48): Show a0001c0001t0001g0163 a0001c0001t0001g0239 a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 a0001c0004t0001g0059 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0105 a0001c0004t0001g0108 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0208 a0001c0004t0001g0224 a0001c0009t0001g0053 a0001c0009t0001g0262 a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0025t0001g0076 a0001c0025t0001g0236 a0001c0026t0001g0027 a0001c0026t0001g0065 a0001c0050t0001g0233 a0001c0063t0001g0193 a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0041 a0002c0008t0001g0042 a0002c0008t0001g0250 a0002c0012t0001g0194 a0002c0012t0001g0245 a0002c0023t0001g0227 a0002c0023t0002g0300 a0003c0015t0001g0078 a0003c0056t0001g0176 a0004c0043t0001g0288 a0005c0044t0001g0286 a0005c0054t0001g0177 a0005c0094t0001g0263 a0014c0027t0001g0181 a0014c0027t0001g0182 a0020c0076t0001g0087 a0025c0059t0001g0083 a0034c0095t0001g0235 a0035c0096t0001g0037 a0036c0040t0001g0008	51	314	0.1624	8	c.259 others(25): Show c.259-1108_259-1101dupACACACAC	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	2/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81955960	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02451.hp1 HG02027.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0074 a0001c0001t0004g0044 a0001c0001t0004g0074	2	144	0.0139	8	c.315 others(27): Show c.3159+3307_3159+3314dupTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82022222	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01891.hp2 others(4): Show HG00735.hp1 HG01192.hp1 HG01891.hp2 HG02630.hp1 HG03239.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0003g0051 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0003g0051 a0001c0001t0005g0096 a0001c0001t0005g0110 a0001c0001t0006g0098 a0001c0002t0001g0057	7	144	0.0486	8	c.114 others(27): Show c.1144-7751_1144-7744dupGTGTGTGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	12/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82103670	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02572.hp1 others(1): Show HG01123.hp1 HG02109.hp2 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0007t0003	a0001c0001t0001g0049 a0001c0001t0003g0086 a0001c0001t0009g0065 others(1): Show a0001c0001t0001g0049 a0001c0001t0003g0086 a0001c0001t0009g0065 a0001c0007t0003g0075	4	144	0.0278	8	c.526 others(27): Show c.526+13373_526+13374insATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111428	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02451.hp1 others(3): Show HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0003g0062 a0001c0001t0003g0088 a0001c0001t0004g0074 others(3): Show a0001c0001t0003g0062 a0001c0001t0003g0088 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0006g0098 a0001c0001t0010g0089	6	144	0.0417	8	c.526 others(25): Show c.526+5615_526+5616insTATACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01258.hp2 HG02717.hp1 others(3): Show HG00642.hp1 HG01258.hp2 HG02717.hp1 HG02809.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001	a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0067 others(3): Show a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0004g0046 a0001c0001t0020g0114 a0001c0002t0001g0026	6	144	0.0417	8	c.355 others(25): Show c.355-1039_355-1032dupTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186189	A A	AAGGGAGG others(1): Show AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02717.hp1 others(13): Show HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA19066.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0129 a0001c0001t0003g0013 a0001c0001t0003g0016 others(13): Show a0001c0001t0002g0129 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0005g0136 a0001c0001t0006g0124 a0001c0001t0007g0020 a0001c0001t0007g0084 a0001c0001t0011g0028 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0003t0001g0025 a0001c0003t0002g0137	16	144	0.1111	8	c.295 others(27): Show c.295-15588_295-15581dupCCCTCCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186230	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02148.hp1 HG02922.hp2 others(3): Show HG01496.hp1 HG02148.hp1 HG02922.hp2 NA18981.hp2 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0051 a0001c0001t0003g0088 a0001c0001t0004g0050 others(3): Show a0001c0001t0003g0051 a0001c0001t0003g0088 a0001c0001t0004g0050 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0002g0119	6	144	0.0417	8	c.295 others(27): Show c.295-15629_295-15622dupCTTCCTTC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186239	G G	GAAGGAAG others(1): Show GAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02809.hp2 HG02818.hp1 others(5): Show HG00735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0007g0020 others(5): Show a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0007g0020 a0001c0001t0007g0084 a0001c0001t0011g0028 a0001c0002t0001g0014 a0001c0002t0002g0128 a0001c0003t0001g0025	8	144	0.0556	8	c.295 others(27): Show c.295-15631_295-15630insTCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186255	A A	AAAGGAAG others(1): Show AAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA20752.hp2 HG02738.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0130 a0001c0002t0010g0090 a0001c0002t0002g0130 a0001c0002t0010g0090	2	144	0.0139	8	c.295 others(27): Show c.295-15654_295-15647dupCCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217910	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01167.hp2 others(13): Show HG00642.hp2 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02683.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG04115.hp1 NA18986.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0087 others(13): Show a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0087 a0001c0001t0004g0002 a0001c0001t0004g0029 a0001c0001t0005g0110 a0001c0001t0005g0123 a0001c0001t0006g0121 a0001c0001t0007g0060 a0001c0001t0007g0081 a0001c0001t0008g0073 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0018g0135 a0001c0002t0001g0064 a0001c0003t0001g0011	16	144	0.1111	8	c.295 others(27): Show c.295-47309_295-47302dupATAAATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82245676	A A	ACACACAC others(1): Show ACACACACT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19007.hp2 NA18952.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0141 a0001c0001t0004g0042 a0001c0001t0002g0141 a0001c0001t0004g0042	2	144	0.0139	8	c.295 others(27): Show c.295-75068_295-75067insAGTGTGTG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82258817	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02630.hp1 HG02717.hp2 others(4): Show HG00735.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02970.hp1 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0004g0079 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0004g0079 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0012g0127 a0001c0002t0002g0130	7	144	0.0486	8	c.294 others(27): Show c.294+76310_294+76317dupAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar

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