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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
CACNA1D_chr3_53489611_53818733	53745815	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	210	0.0048	0	c.317 others(6): Show c.3175-8A>G		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	25/48				chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181710946	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show HG00323.hp1 HG00642.hp1 HG00735.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02071.hp1 HG02273.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG06807.hp1 NA19003.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0004 a0001c0011 others(4): Show a0001c0001 a0001c0004 a0001c0011 a0001c0020 a0001c0022 a0002c0002 a0009c0021	a0001c0001t0016 a0001c0001t0033 a0001c0004t0001 others(12): Show a0001c0001t0016 a0001c0001t0033 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0016 a0001c0004t0031 a0001c0004t0045 a0001c0004t0054 a0001c0011t0004 a0001c0020t0031 a0001c0022t0056 a0002c0002t0007 a0009c0021t0002	a0001c0001t0016g0181 a0001c0001t0033g0088 a0001c0004t0001g0186 others(19): Show a0001c0001t0016g0181 a0001c0001t0033g0088 a0001c0004t0001g0186 a0001c0004t0002g0071 a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0001c0004t0004g0072 a0001c0004t0004g0137 a0001c0004t0004g0185 a0001c0004t0008g0032 a0001c0004t0008g0122 a0001c0004t0016g0198 a0001c0004t0031g0095 a0001c0004t0045g0047 a0001c0004t0054g0018 a0001c0011t0004g0091 a0001c0011t0004g0206 a0001c0020t0031g0074 a0001c0022t0056g0176 a0002c0002t0007g0090 a0009c0021t0002g0098	22	206	0.1068	0	c.105 others(6): Show c.1056-8G>A		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47				chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181762567	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp2 HG02976.hp2 HG03195.hp1 others(2): Show HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0024 a0002c0002 a0001c0001 a0001c0024 a0002c0002	a0001c0001t0048 a0001c0001t0065 a0001c0001t0066 others(2): Show a0001c0001t0048 a0001c0001t0065 a0001c0001t0066 a0001c0024t0067 a0002c0002t0050	a0001c0001t0048g0054 a0001c0001t0065g0173 a0001c0001t0066g0070 others(2): Show a0001c0001t0048g0054 a0001c0001t0065g0173 a0001c0001t0066g0070 a0001c0024t0067g0004 a0002c0002t0050g0197	5	206	0.0243	0	c.460 others(6): Show c.4606-7T>C		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	32/47				chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181796861	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0061 a0003c0003t0061	a0003c0003t0061g0059 a0003c0003t0061g0059	1	206	0.0049	0	c.639 others(6): Show c.6399+3G>A		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	47/47				chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49219318	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG02735.hp1 others(2): Show HG00099.hp1 HG00280.hp1 HG02735.hp1 HG03239.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0070 a0001c0002t0001g0071 others(1): Show a0001c0002t0001g0024 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0110	5	290	0.0172	0	c.267 others(6): Show c.2673+3G>A		CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	21/47				chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49228030	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0014 a0017	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0002c0003 a0002c0014 a0002c0015 a0003c0004 a0003c0029 a0004c0005 a0004c0007 a0005c0009 a0006c0026 a0009c0013 a0014c0016 a0017c0010	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0017t0001 a0002c0003t0001 a0002c0014t0001 a0002c0015t0001 a0003c0004t0001 a0003c0029t0001 a0004c0005t0001 a0004c0007t0001 a0005c0009t0001 a0006c0026t0001 a0009c0013t0001 a0014c0016t0001 a0017c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0034 others(115): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0038 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0006t0001g0016 a0001c0006t0001g0025 a0001c0006t0001g0081 a0001c0017t0001g0079 a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0014 a0002c0003t0001g0017 a0002c0003t0001g0026 a0002c0003t0001g0046 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0069 a0002c0003t0001g0080 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0092 a0002c0003t0001g0101 a0002c0003t0001g0104 a0002c0003t0001g0107 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0177 a0002c0014t0001g0084 a0002c0015t0001g0086 a0003c0004t0001g0006 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0163 a0003c0004t0001g0164 a0003c0004t0001g0165 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0171 a0003c0004t0001g0172 a0003c0004t0001g0173 a0003c0029t0001g0166 a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0007t0001g0047 a0004c0007t0001g0048 a0004c0007t0001g0049 a0004c0007t0001g0050 a0005c0009t0001g0059 a0006c0026t0001g0114 a0009c0013t0001g0077 a0014c0016t0001g0078 a0017c0010t0001g0061	184	290	0.6345	0	c.111 others(6): Show c.1118+6A>G		CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	8/47				chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50607822	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	246	0.0041	0	c.451 others(6): Show c.4513-5G>A		CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	24/37				chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50615520	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(51): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG02071.hp2 HG02080.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18980.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0002 a0001c0003 a0001c0005 others(8): Show a0001c0002 a0001c0003 a0001c0005 a0001c0035 a0001c0044 a0002c0009 a0002c0014 a0003c0021 a0007c0022 a0008c0023 a0009c0029	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(12): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0004 a0001c0005t0001 a0001c0005t0003 a0001c0035t0003 a0001c0044t0001 a0002c0009t0001 a0002c0014t0002 a0003c0021t0002 a0007c0022t0001 a0008c0023t0001 a0009c0029t0001	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 others(50): Show a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0189 a0001c0002t0001g0197 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0058 a0001c0002t0003g0078 a0001c0002t0003g0095 a0001c0002t0003g0123 a0001c0002t0003g0129 a0001c0002t0003g0179 a0001c0002t0003g0195 a0001c0002t0003g0207 a0001c0002t0003g0235 a0001c0002t0004g0152 a0001c0002t0004g0155 a0001c0002t0004g0172 a0001c0002t0004g0174 a0001c0002t0005g0004 a0001c0002t0005g0143 a0001c0002t0005g0144 a0001c0002t0005g0145 a0001c0003t0004g0173 a0001c0005t0001g0054 a0001c0005t0001g0101 a0001c0005t0001g0182 a0001c0005t0001g0192 a0001c0005t0003g0045 a0001c0005t0003g0052 a0001c0005t0003g0151 a0001c0005t0003g0161 a0001c0005t0003g0181 a0001c0005t0003g0231 a0001c0035t0003g0139 a0001c0044t0001g0212 a0002c0009t0001g0116 a0002c0014t0002g0069 a0002c0014t0002g0093 a0003c0021t0002g0127 a0007c0022t0001g0090 a0008c0023t0001g0073 a0009c0029t0001g0138	54	246	0.2195	0	c.491 others(6): Show c.4911+8C>T		CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	27/37				chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50617936	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG02280.hp1 HG02486.hp2 others(2): Show HG01099.hp1 HG02280.hp1 HG02486.hp2 HG02717.hp1 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0004 a0001c0010t0001 a0001c0010t0004	a0001c0010t0001g0065 a0001c0010t0001g0072 a0001c0010t0001g0128 others(2): Show a0001c0010t0001g0065 a0001c0010t0001g0072 a0001c0010t0001g0128 a0001c0010t0004g0220 a0001c0010t0004g0221	5	246	0.0203	0	c.522 others(6): Show c.5226+7G>A		CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	30/37				chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1153714	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 NA19010.hp1 NA19088.hp1 HG00597.hp1 NA19010.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0091 a0001c0001 a0001c0091	a0001c0001t0001 a0001c0091t0029 a0001c0001t0001 a0001c0091t0029	a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0091t0029g0328 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0091t0029g0328	3	338	0.0089	0	c.-18 others(5): Show c.-18-6C>G		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	1/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1200708	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG03017.hp1 HG03942.hp2 HG01346.hp2 HG03017.hp1 HG03942.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0008 a0008c0009t0007 a0008c0009t0008	a0008c0009t0007g0163 a0008c0009t0007g0171 a0008c0009t0008g0253 a0008c0009t0007g0163 a0008c0009t0007g0171 a0008c0009t0008g0253	3	338	0.0089	0	c.112 others(6): Show c.1120-8C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	7/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1200711	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01168.hp1 HG01106.hp2 HG01168.hp1	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0145 a0018c0027t0001g0165 a0018c0027t0001g0145 a0018c0027t0001g0165	2	338	0.0059	0	c.112 others(6): Show c.1120-5C>G		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	7/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1205106	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01081.hp1	a0071 a0071	a0071c0124 a0071c0124	a0071c0124t0003 a0071c0124t0003	a0071c0124t0003g0103 a0071c0124t0003g0103	1	338	0.0030	0	c.245 others(6): Show c.2452-8G>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1206099	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0023 a0002c0058t0023	a0002c0058t0023g0027 a0002c0058t0023g0027	1	338	0.0030	0	c.260 others(6): Show c.2604-5C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	11/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1208008	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19004.hp1 NA19004.hp1	a0041 a0041	a0041c0098 a0041c0098	a0041c0098t0004 a0041c0098t0004	a0041c0098t0004g0033 a0041c0098t0004g0033	1	338	0.0030	0	c.315 others(6): Show c.3155-5C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	15/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1209029	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG03130.hp1 HG03471.hp1 HG02258.hp1 HG03130.hp1 HG03471.hp1	a0043 a0058 a0070 a0043 a0058 a0070	a0043c0085 a0058c0069 a0070c0122 a0043c0085 a0058c0069 a0070c0122	a0043c0085t0003 a0058c0069t0033 a0070c0122t0003 a0043c0085t0003 a0058c0069t0033 a0070c0122t0003	a0043c0085t0003g0048 a0058c0069t0033g0049 a0070c0122t0003g0326 a0043c0085t0003g0048 a0058c0069t0033g0049 a0070c0122t0003g0326	3	338	0.0089	0	c.336 others(6): Show c.3364-3C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	16/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1210577	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0233 a0002c0008t0002g0233	1	338	0.0030	0	c.397 others(6): Show c.3970-6C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	19/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1210578	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG03209.hp1 HG01175.hp1 HG03209.hp1	a0008 a0032 a0008 a0032	a0008c0056 a0032c0071 a0008c0056 a0032c0071	a0008c0056t0038 a0032c0071t0001 a0008c0056t0038 a0032c0071t0001	a0008c0056t0038g0224 a0032c0071t0001g0310 a0008c0056t0038g0224 a0032c0071t0001g0310	2	338	0.0059	0	c.397 others(6): Show c.3970-5G>A		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	19/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1210969	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp2 HG00639.hp1 HG00733.hp1 others(12): Show HG00140.hp2 HG00639.hp1 HG00733.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01891.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp2 HG02970.hp2 NA20752.hp1	a0002 a0018 a0062 others(1): Show a0002 a0018 a0062 a0075	a0002c0008 a0002c0013 a0018c0027 others(2): Show a0002c0008 a0002c0013 a0018c0027 a0062c0072 a0075c0119	a0002c0008t0001 a0002c0008t0002 a0002c0008t0005 others(6): Show a0002c0008t0001 a0002c0008t0002 a0002c0008t0005 a0002c0008t0019 a0002c0013t0001 a0002c0013t0036 a0018c0027t0001 a0062c0072t0001 a0075c0119t0001	a0002c0008t0001g0144 a0002c0008t0001g0185 a0002c0008t0001g0316 others(12): Show a0002c0008t0001g0144 a0002c0008t0001g0185 a0002c0008t0001g0316 a0002c0008t0002g0233 a0002c0008t0005g0252 a0002c0008t0019g0031 a0002c0008t0019g0221 a0002c0013t0001g0170 a0002c0013t0001g0175 a0002c0013t0001g0176 a0002c0013t0036g0206 a0018c0027t0001g0145 a0018c0027t0001g0165 a0062c0072t0001g0210 a0075c0119t0001g0313	15	338	0.0444	0	c.422 others(4): Show c.4221G>A	p.Leu others(7): Show p.Leu1407Leu	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	21/35	4604/8219	4221/7062	1407/2353	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1211162	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG03540.hp1 NA19030.hp2	a0002 a0010 a0060 a0002 a0010 a0060	a0002c0063 a0010c0024 a0010c0062 others(2): Show a0002c0063 a0010c0024 a0010c0062 a0010c0131 a0060c0061	a0002c0063t0001 a0010c0024t0001 a0010c0024t0002 others(3): Show a0002c0063t0001 a0010c0024t0001 a0010c0024t0002 a0010c0062t0001 a0010c0131t0002 a0060c0061t0002	a0002c0063t0001g0287 a0010c0024t0001g0300 a0010c0024t0002g0334 others(3): Show a0002c0063t0001g0287 a0010c0024t0001g0300 a0010c0024t0002g0334 a0010c0062t0001g0075 a0010c0131t0002g0331 a0060c0061t0002g0330	6	338	0.0178	0	c.422 others(6): Show c.4224-6C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	21/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1213775	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01081.hp1	a0071 a0071	a0071c0124 a0071c0124	a0071c0124t0003 a0071c0124t0003	a0071c0124t0003g0103 a0071c0124t0003g0103	1	338	0.0030	0	c.477 others(6): Show c.4778-5C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	26/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1213781	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp2 HG02257.hp1 HG01109.hp2 HG02257.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0217 a0001c0031t0001g0218 a0001c0031t0001g0217 a0001c0031t0001g0218	2	338	0.0059	0	c.477 others(4): Show c.4779G>A	p.Glu others(7): Show p.Glu1593Glu	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	27/35	5162/8219	4779/7062	1593/2353	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1213782	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18943.hp2 NA18943.hp2	a0048 a0048	a0048c0093 a0048c0093	a0048c0093t0002 a0048c0093t0002	a0048c0093t0002g0089 a0048c0093t0002g0089	1	338	0.0030	0	c.478 others(4): Show c.4780G>T	p.Ala others(7): Show p.Ala1594Ser	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	27/35	5163/8219	4780/7062	1594/2353	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1213939	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 HG02155.hp1 NA18990.hp2 others(1): Show HG02040.hp1 HG02155.hp1 NA18990.hp2 NA18998.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0006t0002	a0001c0001t0001g0296 a0001c0001t0002g0066 a0001c0001t0005g0249 others(1): Show a0001c0001t0001g0296 a0001c0001t0002g0066 a0001c0001t0005g0249 a0004c0006t0002g0096	4	338	0.0118	0	c.492 others(6): Show c.4929+8C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	27/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1214974	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp1 NA19030.hp1 HG03579.hp1 NA19030.hp1	a0003 a0028 a0003 a0028	a0003c0068 a0028c0049 a0003c0068 a0028c0049	a0003c0068t0004 a0028c0049t0004 a0003c0068t0004 a0028c0049t0004	a0003c0068t0004g0290 a0028c0049t0004g0321 a0003c0068t0004g0290 a0028c0049t0004g0321	2	338	0.0059	0	c.493 others(4): Show c.4932G>A	p.Ser others(7): Show p.Ser1644Ser	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	28/35	5315/8219	4932/7062	1644/2353	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1215600	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(43): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00738.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp2 HG02735.hp1 HG03491.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18959.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp2	a0001 a0002 a0012 others(10): Show a0001 a0002 a0012 a0032 a0034 a0036 a0044 a0045 a0049 a0050 a0055 a0064 a0080	a0001c0001 a0001c0088 a0001c0091 others(16): Show a0001c0001 a0001c0088 a0001c0091 a0002c0002 a0002c0007 a0002c0014 a0002c0078 a0002c0108 a0012c0036 a0032c0071 a0034c0105 a0036c0103 a0044c0090 a0045c0089 a0049c0095 a0050c0102 a0055c0110 a0064c0111 a0080c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0088t0001 a0001c0091t0029 a0002c0002t0001 a0002c0002t0007 a0002c0007t0002 a0002c0014t0007 a0002c0014t0008 a0002c0078t0005 a0002c0108t0027 a0012c0036t0001 a0032c0071t0001 a0034c0105t0007 a0036c0103t0001 a0044c0090t0001 a0045c0089t0005 a0049c0095t0002 a0050c0102t0002 a0055c0110t0001 a0064c0111t0031 a0080c0045t0005	a0001c0001t0001g0044 a0001c0001t0001g0131 a0001c0001t0001g0132 others(43): Show a0001c0001t0001g0044 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0055 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0143 a0001c0001t0002g0161 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0088t0001g0016 a0001c0091t0029g0328 a0002c0002t0001g0005 a0002c0002t0001g0114 a0002c0002t0001g0239 a0002c0002t0007g0082 a0002c0007t0002g0237 a0002c0014t0007g0081 a0002c0014t0007g0083 a0002c0014t0007g0123 a0002c0014t0008g0267 a0002c0078t0005g0250 a0002c0108t0027g0104 a0012c0036t0001g0011 a0032c0071t0001g0310 a0034c0105t0007g0058 a0036c0103t0001g0139 a0044c0090t0001g0240 a0045c0089t0005g0262 a0049c0095t0002g0197 a0050c0102t0002g0099 a0055c0110t0001g0006 a0064c0111t0031g0256 a0080c0045t0005g0274	46	338	0.1361	0	c.524 others(6): Show c.5244+7G>A		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	30/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1217915	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 NA19030.hp1 HG03579.hp1 NA19030.hp1	a0003 a0028 a0003 a0028	a0003c0068 a0028c0049 a0003c0068 a0028c0049	a0003c0068t0004 a0028c0049t0004 a0003c0068t0004 a0028c0049t0004	a0003c0068t0004g0290 a0028c0049t0004g0321 a0003c0068t0004g0290 a0028c0049t0004g0321	2	338	0.0059	0	c.532 others(6): Show c.5324-4G>A		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	31/34				chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1218046	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02451.hp1	a0026 a0026	a0026c0128 a0026c0128	a0026c0128t0040 a0026c0128t0040	a0026c0128t0040g0014 a0026c0128t0040g0014	1	338	0.0030	0	c.544 others(6): Show c.5445+6C>T		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	32/34				chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39570986	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0003 a0002c0031t0003	a0002c0031t0003g0080 a0002c0031t0003g0081 a0002c0031t0003g0080 a0002c0031t0003g0081	2	236	0.0085	0	c.234 others(3): Show c.234C>T	p.Asn others(5): Show p.Asn78Asn	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/37	234/10002	234/6672	78/2223	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39665492	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02622.hp2 HG03209.hp2 HG02257.hp1 HG02622.hp2 HG03209.hp2	a0001 a0001	a0001c0023 a0001c0034 a0001c0023 a0001c0034	a0001c0023t0010 a0001c0034t0028 a0001c0023t0010 a0001c0034t0028	a0001c0023t0010g0113 a0001c0023t0010g0130 a0001c0034t0028g0102 a0001c0023t0010g0113 a0001c0023t0010g0130 a0001c0034t0028g0102	3	236	0.0127	0	c.385 others(6): Show c.3852-6C>T		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	21/36				chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39670953	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp2 HG01109.hp1 HG01175.hp1 others(27): Show HG00639.hp2 HG01109.hp1 HG01175.hp1 HG01496.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0003 a0005 a0011 others(1): Show a0003 a0005 a0011 a0020	a0003c0005 a0003c0008 a0003c0017 others(4): Show a0003c0005 a0003c0008 a0003c0017 a0003c0024 a0005c0007 a0011c0029 a0020c0042	a0003c0005t0005 a0003c0005t0008 a0003c0005t0053 others(9): Show a0003c0005t0005 a0003c0005t0008 a0003c0005t0053 a0003c0005t0054 a0003c0008t0005 a0003c0008t0006 a0003c0017t0005 a0003c0024t0005 a0005c0007t0006 a0005c0007t0060 a0011c0029t0020 a0020c0042t0005	a0003c0005t0005g0055 a0003c0005t0005g0056 a0003c0005t0005g0079 others(27): Show a0003c0005t0005g0055 a0003c0005t0005g0056 a0003c0005t0005g0079 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0044 a0003c0005t0008g0171 a0003c0005t0053g0142 a0003c0005t0054g0066 a0003c0008t0005g0177 a0003c0008t0006g0084 a0003c0008t0006g0085 a0003c0008t0006g0093 a0003c0008t0006g0094 a0003c0008t0006g0124 a0003c0017t0005g0088 a0003c0017t0005g0089 a0003c0024t0005g0174 a0003c0024t0005g0175 a0005c0007t0006g0096 a0005c0007t0006g0097 a0005c0007t0006g0098 a0005c0007t0006g0099 a0005c0007t0006g0100 a0005c0007t0006g0101 a0005c0007t0006g0112 a0005c0007t0060g0095 a0011c0029t0020g0082 a0011c0029t0020g0083 a0020c0042t0005g0077	30	236	0.1271	0	c.453 others(4): Show c.4538C>T	p.Thr others(7): Show p.Thr1513Met	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	26/37	4538/10002	4538/6672	1513/2223	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39679102	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG02896.hp2 HG00639.hp2 HG02896.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0005 a0003c0024t0005	a0003c0024t0005g0174 a0003c0024t0005g0175 a0003c0024t0005g0174 a0003c0024t0005g0175	2	236	0.0085	0	c.505 others(6): Show c.5056-5C>T		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	31/36				chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201047518	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp1 HG00621.hp2 others(56): Show HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18946.hp1 NA18956.hp2 NA18962.hp2 NA18983.hp2 NA19003.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19240.hp2	a0001 a0002 a0007 others(13): Show a0001 a0002 a0007 a0008 a0010 a0011 a0014 a0016 a0017 a0019 a0026 a0028 a0029 a0033 a0035 a0036	a0001c0004 a0001c0009 a0001c0033 others(29): Show a0001c0004 a0001c0009 a0001c0033 a0002c0008 a0002c0010 a0002c0012 a0002c0020 a0002c0023 a0002c0047 a0002c0048 a0002c0058 a0002c0064 a0002c0067 a0002c0072 a0002c0075 a0002c0089 a0007c0036 a0007c0081 a0008c0039 a0008c0077 a0010c0019 a0011c0034 a0014c0027 a0016c0032 a0017c0093 a0019c0042 a0026c0053 a0028c0068 a0029c0087 a0033c0097 a0035c0096 a0036c0040	a0001c0004t0001 a0001c0009t0001 a0001c0033t0001 others(31): Show a0001c0004t0001 a0001c0009t0001 a0001c0033t0001 a0002c0008t0001 a0002c0010t0001 a0002c0012t0001 a0002c0020t0001 a0002c0023t0001 a0002c0023t0002 a0002c0047t0001 a0002c0048t0001 a0002c0058t0001 a0002c0064t0001 a0002c0067t0001 a0002c0072t0001 a0002c0075t0001 a0002c0089t0001 a0007c0036t0001 a0007c0081t0001 a0008c0039t0001 a0008c0039t0002 a0008c0077t0001 a0010c0019t0001 a0011c0034t0001 a0014c0027t0001 a0016c0032t0001 a0017c0093t0001 a0019c0042t0001 a0026c0053t0001 a0028c0068t0001 a0029c0087t0001 a0033c0097t0001 a0035c0096t0001 a0036c0040t0001	a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(55): Show a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 a0001c0033t0001g0251 a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0041 a0002c0008t0001g0042 a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0008t0001g0250 a0002c0008t0001g0275 a0002c0010t0001g0034 a0002c0010t0001g0099 a0002c0010t0001g0102 a0002c0010t0001g0173 a0002c0010t0001g0215 a0002c0010t0001g0225 a0002c0012t0001g0194 a0002c0012t0001g0245 a0002c0012t0001g0261 a0002c0012t0001g0270 a0002c0020t0001g0134 a0002c0020t0001g0135 a0002c0020t0001g0139 a0002c0023t0001g0227 a0002c0023t0002g0300 a0002c0047t0001g0187 a0002c0048t0001g0234 a0002c0058t0001g0103 a0002c0064t0001g0238 a0002c0067t0001g0197 a0002c0072t0001g0266 a0002c0075t0001g0195 a0002c0089t0001g0054 a0007c0036t0001g0244 a0007c0036t0001g0287 a0007c0081t0001g0023 a0008c0039t0001g0045 a0008c0039t0002g0298 a0008c0077t0001g0010 a0010c0019t0001g0164 a0010c0019t0001g0188 a0010c0019t0001g0253 a0011c0034t0001g0001 a0014c0027t0001g0181 a0014c0027t0001g0182 a0016c0032t0001g0267 a0016c0032t0001g0268 a0017c0093t0001g0246 a0019c0042t0001g0009 a0026c0053t0001g0066 a0028c0068t0001g0273 a0029c0087t0001g0019 a0033c0097t0001g0036 a0035c0096t0001g0037 a0036c0040t0001g0008	59	314	0.1879	0	c.454 others(6): Show c.4543+7G>A		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	37/43				chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201050977	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(32): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0002 a0001c0003 others(90): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0021 a0001c0026 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0038 a0001c0050 a0001c0051 a0001c0063 a0001c0070 a0001c0073 a0001c0079 a0001c0083 a0001c0084 a0001c0090 a0002c0008 a0002c0010 a0002c0012 a0002c0020 a0002c0023 a0002c0045 a0002c0047 a0002c0048 a0002c0058 a0002c0064 a0002c0067 a0002c0072 a0002c0074 a0002c0075 a0002c0089 a0003c0005 a0003c0015 a0003c0056 a0003c0057 a0003c0082 a0003c0086 a0004c0006 a0005c0022 a0005c0024 a0005c0044 a0005c0046 a0005c0049 a0005c0052 a0005c0054 a0005c0078 a0005c0094 a0006c0055 a0006c0066 a0006c0071 a0006c0085 a0006c0088 a0007c0036 a0007c0081 a0008c0039 a0008c0077 a0009c0018 a0010c0019 a0011c0034 a0012c0037 a0013c0035 a0014c0027 a0015c0028 a0016c0032 a0017c0093 a0018c0092 a0019c0042 a0021c0080 a0022c0041 a0023c0060 a0024c0061 a0025c0059 a0026c0053 a0027c0065 a0028c0068 a0029c0087 a0030c0069 a0031c0062 a0032c0091 a0033c0097 a0034c0095 a0035c0096 a0036c0040	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(99): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0007t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0016t0001 a0001c0016t0002 a0001c0017t0001 a0001c0021t0001 a0001c0026t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0033t0001 a0001c0038t0001 a0001c0050t0001 a0001c0051t0001 a0001c0063t0001 a0001c0070t0001 a0001c0073t0001 a0001c0079t0001 a0001c0083t0001 a0001c0084t0001 a0001c0090t0001 a0002c0008t0001 a0002c0010t0001 a0002c0012t0001 a0002c0020t0001 a0002c0023t0001 a0002c0023t0002 a0002c0045t0001 a0002c0047t0001 a0002c0048t0001 a0002c0058t0001 a0002c0064t0001 a0002c0067t0001 a0002c0072t0001 a0002c0074t0001 a0002c0075t0001 a0002c0089t0001 a0003c0005t0001 a0003c0005t0002 a0003c0015t0001 a0003c0056t0001 a0003c0057t0001 a0003c0082t0001 a0003c0086t0001 a0004c0006t0001 a0005c0022t0001 a0005c0022t0003 a0005c0024t0001 a0005c0024t0002 a0005c0044t0001 a0005c0046t0001 a0005c0049t0001 a0005c0052t0001 a0005c0054t0001 a0005c0078t0001 a0005c0094t0001 a0006c0055t0001 a0006c0066t0001 a0006c0071t0001 a0006c0085t0002 a0006c0088t0001 a0007c0036t0001 a0007c0081t0001 a0008c0039t0001 a0008c0039t0002 a0008c0077t0001 a0009c0018t0001 a0010c0019t0001 a0011c0034t0001 a0012c0037t0001 a0013c0035t0001 a0014c0027t0001 a0015c0028t0001 a0016c0032t0001 a0017c0093t0001 a0018c0092t0001 a0019c0042t0001 a0021c0080t0001 a0022c0041t0001 a0023c0060t0001 a0024c0061t0001 a0025c0059t0001 a0026c0053t0001 a0027c0065t0001 a0028c0068t0001 a0029c0087t0001 a0030c0069t0001 a0031c0062t0001 a0032c0091t0001 a0033c0097t0001 a0034c0095t0001 a0035c0096t0001 a0036c0040t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(279): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0002g0304 a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0077 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0178 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0231 a0001c0002t0001g0272 a0001c0002t0001g0277 a0001c0003t0001g0005 a0001c0003t0001g0072 a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0242 a0001c0003t0001g0285 a0001c0003t0001g0289 a0001c0003t0002g0306 a0001c0003t0002g0307 a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0059 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0105 a0001c0004t0001g0108 a0001c0004t0001g0121 a0001c0004t0001g0123 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0208 a0001c0004t0001g0224 a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 a0001c0007t0001g0162 a0001c0007t0001g0179 a0001c0007t0001g0216 a0001c0007t0001g0284 a0001c0007t0002g0303 a0001c0009t0001g0006 a0001c0009t0001g0053 a0001c0009t0001g0186 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0264 a0001c0009t0001g0265 a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0011t0001g0169 a0001c0011t0001g0278 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0014t0001g0063 a0001c0014t0001g0252 a0001c0016t0001g0129 a0001c0016t0001g0152 a0001c0016t0001g0199 a0001c0016t0002g0302 a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0017t0001g0107 a0001c0017t0001g0223 a0001c0021t0001g0170 a0001c0021t0001g0207 a0001c0021t0001g0232 a0001c0026t0001g0027 a0001c0026t0001g0065 a0001c0029t0001g0049 a0001c0029t0001g0274 a0001c0030t0001g0171 a0001c0030t0001g0200 a0001c0031t0001g0048 a0001c0031t0001g0209 a0001c0033t0001g0082 a0001c0033t0001g0251 a0001c0038t0001g0096 a0001c0038t0001g0138 a0001c0050t0001g0233 a0001c0051t0001g0064 a0001c0063t0001g0193 a0001c0070t0001g0120 a0001c0073t0001g0046 a0001c0079t0001g0269 a0001c0083t0001g0101 a0001c0084t0001g0203 a0001c0090t0001g0112 a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0041 a0002c0008t0001g0042 a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0008t0001g0250 a0002c0008t0001g0275 a0002c0010t0001g0034 a0002c0010t0001g0099 a0002c0010t0001g0102 a0002c0010t0001g0117 a0002c0010t0001g0173 a0002c0010t0001g0215 a0002c0010t0001g0225 a0002c0012t0001g0194 a0002c0012t0001g0245 a0002c0012t0001g0256 a0002c0012t0001g0261 a0002c0012t0001g0270 a0002c0020t0001g0134 a0002c0020t0001g0135 a0002c0020t0001g0139 a0002c0023t0001g0227 a0002c0023t0002g0300 a0002c0045t0001g0219 a0002c0047t0001g0187 a0002c0048t0001g0234 a0002c0058t0001g0103 a0002c0064t0001g0238 a0002c0067t0001g0197 a0002c0072t0001g0266 a0002c0074t0001g0249 a0002c0075t0001g0195 a0002c0089t0001g0054 a0003c0005t0001g0073 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0110 a0003c0005t0001g0126 a0003c0005t0001g0130 a0003c0005t0001g0131 a0003c0005t0001g0136 a0003c0005t0001g0137 a0003c0005t0001g0149 a0003c0005t0001g0161 a0003c0005t0001g0191 a0003c0005t0001g0281 a0003c0005t0002g0305 a0003c0015t0001g0061 a0003c0015t0001g0078 a0003c0015t0001g0091 a0003c0015t0001g0118 a0003c0056t0001g0176 a0003c0057t0001g0291 a0003c0082t0001g0122 a0003c0086t0001g0093 a0004c0006t0001g0192 a0005c0022t0001g0260 a0005c0022t0003g0258 a0005c0024t0001g0257 a0005c0024t0002g0301 a0005c0044t0001g0286 a0005c0046t0001g0255 a0005c0049t0001g0254 a0005c0052t0001g0185 a0005c0054t0001g0177 a0005c0078t0001g0226 a0005c0094t0001g0263 a0006c0055t0001g0290 a0006c0066t0001g0196 a0006c0071t0001g0039 a0006c0085t0002g0299 a0006c0088t0001g0237 a0007c0036t0001g0244 a0007c0036t0001g0287 a0007c0081t0001g0023 a0008c0039t0001g0045 a0008c0039t0002g0298 a0008c0077t0001g0010 a0009c0018t0001g0165 a0009c0018t0001g0174 a0009c0018t0001g0189 a0010c0019t0001g0164 a0010c0019t0001g0188 a0010c0019t0001g0253 a0011c0034t0001g0001 a0012c0037t0001g0086 a0012c0037t0001g0229 a0013c0035t0001g0004 a0014c0027t0001g0181 a0014c0027t0001g0182 a0015c0028t0001g0058 a0015c0028t0001g0222 a0016c0032t0001g0267 a0016c0032t0001g0268 a0017c0093t0001g0246 a0018c0092t0001g0228 a0019c0042t0001g0009 a0021c0080t0001g0075 a0022c0041t0001g0044 a0023c0060t0001g0175 a0024c0061t0001g0190 a0025c0059t0001g0083 a0026c0053t0001g0066 a0027c0065t0001g0113 a0028c0068t0001g0273 a0029c0087t0001g0019 a0030c0069t0001g0081 a0031c0062t0001g0243 a0032c0091t0001g0033 a0033c0097t0001g0036 a0034c0095t0001g0235 a0035c0096t0001g0037 a0036c0040t0001g0008	288	314	0.9172	0	c.411 others(6): Show c.4113+7T>C		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	33/43				chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201052550	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02896.hp2 NA20300.hp1 HG02723.hp2 HG02896.hp2 NA20300.hp1	a0001 a0001	a0001c0017 a0001c0070 a0001c0017 a0001c0070	a0001c0017t0001 a0001c0070t0001 a0001c0017t0001 a0001c0070t0001	a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120	3	314	0.0096	0	c.395 others(6): Show c.3953+7G>A		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	32/43				chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201052551	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG02818.hp2 HG02922.hp1 others(1): Show HG02717.hp2 HG02818.hp2 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0050 others(1): Show a0001c0004 a0001c0017 a0001c0050 a0001c0079	a0001c0004t0001 a0001c0017t0001 a0001c0050t0001 others(1): Show a0001c0004t0001 a0001c0017t0001 a0001c0050t0001 a0001c0079t0001	a0001c0004t0001g0123 a0001c0017t0001g0223 a0001c0050t0001g0233 others(1): Show a0001c0004t0001g0123 a0001c0017t0001g0223 a0001c0050t0001g0233 a0001c0079t0001g0269	4	314	0.0127	0	c.395 others(6): Show c.3953+6C>T		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	32/43				chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201058408	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp2 HG02895.hp1 HG02630.hp2 HG02895.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0001 a0005c0024t0002 a0005c0024t0001 a0005c0024t0002	a0005c0024t0001g0257 a0005c0024t0002g0301 a0005c0024t0001g0257 a0005c0024t0002g0301	2	314	0.0064	0	c.360 others(4): Show c.3609C>T	p.Asp others(7): Show p.Asp1203Asp	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/44	3696/6028	3609/5622	1203/1873	chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201065943	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(19): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18989.hp1 NA19005.hp2 NA19054.hp2 NA19062.hp2 NA19077.hp1 NA19078.hp1	a0001 a0003 a0022 others(2): Show a0001 a0003 a0022 a0031 a0032	a0001c0007 a0001c0021 a0001c0029 others(6): Show a0001c0007 a0001c0021 a0001c0029 a0001c0038 a0003c0057 a0003c0086 a0022c0041 a0031c0062 a0032c0091	a0001c0007t0001 a0001c0007t0002 a0001c0021t0001 others(7): Show a0001c0007t0001 a0001c0007t0002 a0001c0021t0001 a0001c0029t0001 a0001c0038t0001 a0003c0057t0001 a0003c0086t0001 a0022c0041t0001 a0031c0062t0001 a0032c0091t0001	a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 others(19): Show a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 a0001c0007t0001g0162 a0001c0007t0001g0179 a0001c0007t0001g0216 a0001c0007t0001g0284 a0001c0007t0002g0303 a0001c0021t0001g0170 a0001c0021t0001g0207 a0001c0021t0001g0232 a0001c0029t0001g0049 a0001c0029t0001g0274 a0001c0038t0001g0096 a0001c0038t0001g0138 a0003c0057t0001g0291 a0003c0086t0001g0093 a0022c0041t0001g0044 a0031c0062t0001g0243 a0032c0091t0001g0033	22	314	0.0701	0	c.274 others(4): Show c.2748C>T	p.His others(6): Show p.His916His	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	22/44	2835/6028	2748/5622	916/1873	chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201074499	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp1	a0020 a0020	a0020c0076 a0020c0076	a0020c0076t0001 a0020c0076t0001	a0020c0076t0001g0087 a0020c0076t0001g0087	1	314	0.0032	0	c.206 others(6): Show c.2063+7G>T		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	14/43				chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201075620	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0015 a0017 a0018 a0020 a0021 a0022 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034	a0001c0001 a0001c0002 a0001c0003 others(67): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0021 a0001c0029 a0001c0030 a0001c0031 a0001c0038 a0001c0050 a0001c0051 a0001c0073 a0001c0079 a0001c0084 a0001c0090 a0002c0008 a0002c0010 a0002c0012 a0002c0020 a0002c0023 a0002c0047 a0002c0048 a0002c0058 a0002c0067 a0002c0072 a0002c0074 a0002c0075 a0002c0089 a0003c0005 a0003c0015 a0003c0057 a0003c0082 a0003c0086 a0004c0006 a0004c0043 a0005c0044 a0005c0046 a0005c0049 a0005c0052 a0005c0094 a0006c0055 a0006c0066 a0006c0085 a0006c0088 a0007c0036 a0007c0081 a0008c0039 a0011c0034 a0012c0037 a0013c0035 a0015c0028 a0017c0093 a0018c0092 a0020c0076 a0021c0080 a0022c0041 a0027c0065 a0028c0068 a0029c0087 a0030c0069 a0031c0062 a0032c0091 a0033c0097 a0034c0095	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0007t0001 a0001c0007t0002 a0001c0011t0001 a0001c0013t0001 a0001c0014t0001 a0001c0016t0001 a0001c0016t0002 a0001c0017t0001 a0001c0021t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0038t0001 a0001c0050t0001 a0001c0051t0001 a0001c0073t0001 a0001c0079t0001 a0001c0084t0001 a0001c0090t0001 a0002c0008t0001 a0002c0010t0001 a0002c0012t0001 a0002c0020t0001 a0002c0023t0001 a0002c0023t0002 a0002c0047t0001 a0002c0048t0001 a0002c0058t0001 a0002c0067t0001 a0002c0072t0001 a0002c0074t0001 a0002c0075t0001 a0002c0089t0001 a0003c0005t0001 a0003c0005t0002 a0003c0015t0001 a0003c0057t0001 a0003c0082t0001 a0003c0086t0001 a0004c0006t0001 a0004c0043t0001 a0005c0044t0001 a0005c0046t0001 a0005c0049t0001 a0005c0052t0001 a0005c0094t0001 a0006c0055t0001 a0006c0066t0001 a0006c0085t0002 a0006c0088t0001 a0007c0036t0001 a0007c0081t0001 a0008c0039t0001 a0008c0039t0002 a0011c0034t0001 a0012c0037t0001 a0013c0035t0001 a0015c0028t0001 a0017c0093t0001 a0018c0092t0001 a0020c0076t0001 a0021c0080t0001 a0022c0041t0001 a0027c0065t0001 a0028c0068t0001 a0029c0087t0001 a0030c0069t0001 a0031c0062t0001 a0032c0091t0001 a0033c0097t0001 a0034c0095t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(228): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0002g0304 a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0050 a0001c0002t0001g0077 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0178 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0231 a0001c0002t0001g0272 a0001c0002t0001g0277 a0001c0003t0001g0005 a0001c0003t0001g0072 a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0242 a0001c0003t0001g0285 a0001c0003t0001g0289 a0001c0003t0002g0306 a0001c0003t0002g0307 a0001c0004t0001g0208 a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 a0001c0007t0001g0162 a0001c0007t0001g0179 a0001c0007t0001g0216 a0001c0007t0001g0284 a0001c0007t0002g0303 a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0011t0001g0169 a0001c0011t0001g0278 a0001c0013t0001g0007 a0001c0013t0001g0292 a0001c0013t0001g0293 a0001c0013t0001g0296 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0014t0001g0063 a0001c0016t0001g0129 a0001c0016t0001g0152 a0001c0016t0001g0199 a0001c0016t0002g0302 a0001c0017t0001g0107 a0001c0017t0001g0223 a0001c0021t0001g0170 a0001c0021t0001g0207 a0001c0021t0001g0232 a0001c0029t0001g0049 a0001c0029t0001g0274 a0001c0030t0001g0171 a0001c0030t0001g0200 a0001c0031t0001g0048 a0001c0031t0001g0209 a0001c0038t0001g0096 a0001c0038t0001g0138 a0001c0050t0001g0233 a0001c0051t0001g0064 a0001c0073t0001g0046 a0001c0079t0001g0269 a0001c0084t0001g0203 a0001c0090t0001g0112 a0002c0008t0001g0013 a0002c0008t0001g0041 a0002c0008t0001g0042 a0002c0010t0001g0034 a0002c0010t0001g0099 a0002c0010t0001g0102 a0002c0010t0001g0117 a0002c0010t0001g0173 a0002c0010t0001g0215 a0002c0010t0001g0225 a0002c0012t0001g0194 a0002c0012t0001g0245 a0002c0020t0001g0134 a0002c0020t0001g0135 a0002c0020t0001g0139 a0002c0023t0001g0227 a0002c0023t0002g0300 a0002c0047t0001g0187 a0002c0048t0001g0234 a0002c0058t0001g0103 a0002c0067t0001g0197 a0002c0072t0001g0266 a0002c0074t0001g0249 a0002c0075t0001g0195 a0002c0089t0001g0054 a0003c0005t0001g0073 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0110 a0003c0005t0001g0126 a0003c0005t0001g0130 a0003c0005t0001g0131 a0003c0005t0001g0136 a0003c0005t0001g0137 a0003c0005t0001g0149 a0003c0005t0001g0161 a0003c0005t0001g0191 a0003c0005t0001g0281 a0003c0005t0002g0305 a0003c0015t0001g0061 a0003c0015t0001g0091 a0003c0015t0001g0118 a0003c0057t0001g0291 a0003c0082t0001g0122 a0003c0086t0001g0093 a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 a0004c0006t0001g0060 a0004c0006t0001g0067 a0004c0006t0001g0074 a0004c0006t0001g0089 a0004c0006t0001g0100 a0004c0006t0001g0106 a0004c0006t0001g0192 a0004c0006t0001g0205 a0004c0006t0001g0294 a0004c0006t0001g0295 a0004c0043t0001g0288 a0005c0044t0001g0286 a0005c0046t0001g0255 a0005c0049t0001g0254 a0005c0052t0001g0185 a0005c0094t0001g0263 a0006c0055t0001g0290 a0006c0066t0001g0196 a0006c0085t0002g0299 a0006c0088t0001g0237 a0007c0036t0001g0244 a0007c0036t0001g0287 a0007c0081t0001g0023 a0008c0039t0001g0045 a0008c0039t0002g0298 a0011c0034t0001g0001 a0012c0037t0001g0086 a0012c0037t0001g0229 a0013c0035t0001g0004 a0015c0028t0001g0058 a0015c0028t0001g0222 a0017c0093t0001g0246 a0018c0092t0001g0228 a0020c0076t0001g0087 a0021c0080t0001g0075 a0022c0041t0001g0044 a0027c0065t0001g0113 a0028c0068t0001g0273 a0029c0087t0001g0019 a0030c0069t0001g0081 a0031c0062t0001g0243 a0032c0091t0001g0033 a0033c0097t0001g0036 a0034c0095t0001g0235	237	314	0.7548	0	c.182 others(6): Show c.1828-5T>C		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	12/43				chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201078103	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02074.hp2 HG02165.hp1 HG02074.hp2 HG02165.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0048 a0001c0031t0001g0209 a0001c0031t0001g0048 a0001c0031t0001g0209	2	314	0.0064	0	c.139 others(4): Show c.1395C>T	p.Asp others(6): Show p.Asp465Asp	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	11/44	1482/6028	1395/5622	465/1873	chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201083155	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00597.hp1 HG01069.hp1 others(23): Show HG00544.hp2 HG00597.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18960.hp1 NA18962.hp1 NA18971.hp1 NA18986.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19084.hp1	a0001 a0018 a0032 a0001 a0018 a0032	a0001c0003 a0001c0011 a0001c0021 others(3): Show a0001c0003 a0001c0011 a0001c0021 a0001c0090 a0018c0092 a0032c0091	a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 a0001c0021t0001 a0001c0090t0001 a0018c0092t0001 a0032c0091t0001	a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 others(23): Show a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0242 a0001c0003t0001g0285 a0001c0003t0002g0306 a0001c0003t0002g0307 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0011t0001g0169 a0001c0011t0001g0278 a0001c0021t0001g0170 a0001c0021t0001g0207 a0001c0021t0001g0232 a0001c0090t0001g0112 a0018c0092t0001g0228 a0032c0091t0001g0033	26	314	0.0828	0	c.139 others(6): Show c.1393+7C>T		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	10/43				chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81962030	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0069 a0001c0006t0013g0069	1	144	0.0069	0	c.283 others(6): Show c.2837-7A>G		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	35/38				chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81964106	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0069 a0001c0006t0013g0069	1	144	0.0069	0	c.273 others(4): Show c.2730A>T	p.Pro others(6): Show p.Pro910Pro	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	34/39	3048/7542	2730/3276	910/1091	chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81974555	G G	GAA GAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01192.hp2 HG01258.hp1 others(6): Show HG01123.hp2 HG01192.hp2 HG01258.hp1 HG02109.hp2 HG02922.hp2 HG03453.hp1 NA18522.hp2 NA19002.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0022 a0001c0003t0001 a0001c0004t0003 a0001c0006t0013	a0001c0001t0003g0005 a0001c0001t0003g0088 a0001c0001t0005g0111 others(6): Show a0001c0001t0003g0005 a0001c0001t0003g0088 a0001c0001t0005g0111 a0001c0001t0005g0139 a0001c0001t0009g0065 a0001c0001t0022g0117 a0001c0003t0001g0061 a0001c0004t0003g0082 a0001c0006t0013g0069	9	144	0.0625	2	c.195 others(15): Show c.1956-5_1956-4dupTT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38				chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82066526	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG01192.hp2 HG01243.hp1 others(22): Show HG00639.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03834.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0002t0010	a0001c0001t0001g0012 a0001c0001t0004g0021 a0001c0001t0004g0022 others(22): Show a0001c0001t0001g0012 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0139 a0001c0001t0006g0098 a0001c0001t0006g0142 a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0008g0043 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0001t0012g0102 a0001c0001t0012g0127 a0001c0001t0021g0113 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0010g0092	25	144	0.1736	1	c.659 others(6): Show c.659-3dupT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	7/38				chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82066526	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01496.hp1 HG01496.hp2 others(9): Show HG00735.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0004t0006 a0001c0004t0008 a0001c0006t0013	a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0006g0138 others(9): Show a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0006g0138 a0001c0001t0008g0023 a0001c0001t0008g0083 a0001c0001t0011g0028 a0001c0002t0001g0018 a0001c0002t0002g0119 a0001c0002t0002g0128 a0001c0004t0006g0104 a0001c0004t0008g0024 a0001c0006t0013g0069	12	144	0.0833	-1	c.659 others(6): Show c.659-3delT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	7/38				chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82117179	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	144	0.0069	0	c.397 others(5): Show c.397-6A>G		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	5/38				chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82136680	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01192.hp2 HG01243.hp2 others(11): Show HG00642.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01884.hp1 HG02257.hp2 HG02559.hp2 HG02809.hp1 HG02818.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp1 NA18952.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001	a0001c0001t0001g0068 a0001c0001t0003g0005 a0001c0001t0005g0101 others(11): Show a0001c0001t0001g0068 a0001c0001t0003g0005 a0001c0001t0005g0101 a0001c0001t0005g0139 a0001c0001t0007g0081 a0001c0001t0008g0043 a0001c0001t0008g0073 a0001c0001t0018g0135 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0008t0001g0004	14	144	0.0972	1	c.355 others(6): Show c.355-5dupT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38				chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50365192	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG01257.hp2 HG01175.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0021 a0001c0001t0031g0230 a0001c0001t0005g0021 a0001c0001t0031g0230	2	234	0.0086	0	c.309 others(6): Show c.3099-8G>T		CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	35/37				chr3	TogoVar

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