Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1E_chr1_181478517_181813084	181548129	C C	CTTTTTTT others(3): Show CTTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(79): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18942.hp1 NA18964.hp2 NA18968.hp2 NA18977.hp1 NA18988.hp1 NA19003.hp1 NA19003.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0010 a0012 a0013	a0001c0001 a0001c0004 a0001c0005 others(17): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0024 a0001c0033 a0001c0034 a0002c0002 a0002c0027 a0002c0031 a0002c0032 a0003c0003 a0004c0007 a0008c0019 a0010c0020 a0012c0025 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0033 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0070 a0001c0001t0074 a0001c0004t0002 a0001c0004t0008 a0001c0004t0016 a0001c0004t0054 a0001c0005t0026 a0001c0005t0030 a0001c0006t0004 a0001c0006t0075 a0001c0008t0008 a0001c0008t0051 a0001c0011t0004 a0001c0012t0029 a0001c0024t0056 a0001c0033t0004 a0001c0034t0062 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0015 a0002c0002t0021 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0035 a0002c0002t0049 a0002c0027t0004 a0002c0031t0001 a0002c0032t0079 a0003c0003t0001 a0003c0003t0003 a0003c0003t0005 a0003c0003t0022 a0004c0007t0001 a0008c0019t0001 a0010c0020t0001 a0012c0025t0077 a0013c0016t0005	a0001c0001t0001g0166 a0001c0001t0002g0001 a0001c0001t0004g0078 others(79): Show a0001c0001t0001g0166 a0001c0001t0002g0001 a0001c0001t0004g0078 a0001c0001t0004g0146 a0001c0001t0005g0089 a0001c0001t0005g0172 a0001c0001t0006g0151 a0001c0001t0006g0183 a0001c0001t0006g0189 a0001c0001t0007g0121 a0001c0001t0007g0136 a0001c0001t0007g0154 a0001c0001t0008g0179 a0001c0001t0013g0105 a0001c0001t0013g0187 a0001c0001t0014g0142 a0001c0001t0033g0088 a0001c0001t0058g0204 a0001c0001t0059g0107 a0001c0001t0065g0173 a0001c0001t0070g0037 a0001c0001t0074g0109 a0001c0004t0002g0071 a0001c0004t0008g0032 a0001c0004t0016g0198 a0001c0004t0054g0018 a0001c0005t0026g0031 a0001c0005t0030g0150 a0001c0005t0030g0178 a0001c0006t0004g0117 a0001c0006t0075g0064 a0001c0008t0008g0164 a0001c0008t0051g0165 a0001c0011t0004g0206 a0001c0012t0029g0163 a0001c0024t0056g0176 a0001c0033t0004g0118 a0001c0034t0062g0073 a0002c0002t0001g0023 a0002c0002t0002g0143 a0002c0002t0002g0155 a0002c0002t0002g0184 a0002c0002t0002g0191 a0002c0002t0003g0144 a0002c0002t0003g0161 a0002c0002t0003g0167 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0007g0069 a0002c0002t0015g0017 a0002c0002t0021g0010 a0002c0002t0026g0175 a0002c0002t0027g0036 a0002c0002t0028g0021 a0002c0002t0028g0097 a0002c0002t0029g0063 a0002c0002t0035g0145 a0002c0002t0049g0169 a0002c0027t0004g0065 a0002c0031t0001g0153 a0002c0032t0079g0006 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0096 a0003c0003t0001g0106 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0147 a0003c0003t0001g0149 a0003c0003t0001g0200 a0003c0003t0003g0103 a0003c0003t0005g0152 a0003c0003t0005g0180 a0003c0003t0005g0190 a0003c0003t0022g0177 a0003c0003t0022g0193 a0004c0007t0001g0171 a0008c0019t0001g0020 a0010c0020t0001g0056 a0012c0025t0077g0008 a0013c0016t0005g0192	82	206	0.3981	10	c.513 others(29): Show c.513-29629_513-29628insCTTTTTTTTT	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(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(14): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01361.hp1 HG01517.hp2 HG01975.hp1 HG01993.hp2 HG02040.hp1 HG02132.hp1 HG02135.hp2 HG02559.hp1 HG03688.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0002c0027 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0011t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0021 a0002c0002t0053 a0002c0027t0004 a0003c0003t0001	a0001c0001t0001g0166 a0001c0001t0003g0134 a0001c0001t0005g0086 others(14): Show a0001c0001t0001g0166 a0001c0001t0003g0134 a0001c0001t0005g0086 a0001c0001t0005g0172 a0001c0001t0006g0123 a0001c0001t0007g0154 a0001c0001t0009g0132 a0001c0011t0004g0206 a0002c0002t0001g0023 a0002c0002t0003g0161 a0002c0002t0003g0167 a0002c0002t0007g0094 a0002c0002t0021g0010 a0002c0002t0053g0104 a0002c0027t0004g0065 a0003c0003t0001g0012 a0003c0003t0001g0076	17	206	0.0825	10	c.951 others(29): Show c.951+15812_951+15821dupGTGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181718611	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0201 a0002c0002t0003g0201	1	206	0.0049	10	c.163 others(27): Show c.1638+491_1638+500dupACACACACAC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181737866	C C	CCAGGGCT others(3): Show CCAGGGCTCTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0147 a0003c0003t0001g0147	1	206	0.0049	10	c.355 others(27): Show c.3552+226_3552+235dupGGCTCTGCAG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp2 HG02717.hp2 others(3): Show HG01891.hp2 HG01978.hp2 HG02717.hp2 HG02922.hp1 HG03225.hp1 HG03688.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0004 a0001c0005 a0003c0003 others(2): Show a0001c0004 a0001c0005 a0003c0003 a0005c0029 a0009c0021	a0001c0004t0010 a0001c0004t0031 a0001c0005t0018 others(3): Show a0001c0004t0010 a0001c0004t0031 a0001c0005t0018 a0003c0003t0001 a0005c0029t0027 a0009c0021t0041	a0001c0004t0010g0067 a0001c0004t0031g0095 a0001c0005t0018g0061 others(3): Show a0001c0004t0010g0067 a0001c0004t0031g0095 a0001c0005t0018g0061 a0003c0003t0001g0012 a0005c0029t0027g0174 a0009c0021t0041g0116	6	206	0.0291	10	c.526 others(29): Show c.5268-1586_5268-1577dupCACACACACA	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(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02896.hp1 HG01167.hp1 HG01169.hp1 HG02896.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0034 a0003c0004t0001g0006 a0001c0001t0001g0034 a0003c0004t0001g0006	3	290	0.0103	10	c.-25 others(21): Show c.-2527_-2518dupGTGTGTGTGT	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2487		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235849	A A	ACACACAC others(3): Show ACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	290	0.0035	10	c.-25 others(21): Show c.-2541_-2540insCGTGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2510		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235851	A A	ACACACAC others(3): Show ACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03927.hp1 HG03927.hp2 others(2): Show HG03490.hp1 HG03927.hp1 HG03927.hp2 NA18989.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0024 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0024 a0002c0003t0001g0009 a0002c0003t0001g0026	5	290	0.0172	10	c.-25 others(21): Show c.-2543_-2542insCGTGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2512		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235861	A A	ACACACAC others(3): Show ACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03540.hp2 HG02965.hp1 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0052 a0004c0005t0001g0055 a0004c0005t0001g0052 a0004c0005t0001g0055	2	290	0.0069	10	c.-25 others(21): Show c.-2553_-2552insCGTGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2522		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 NA18951.hp2 others(3): Show HG02559.hp1 HG03471.hp1 NA18951.hp2 NA18980.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0009 a0001c0002 a0001c0008 a0002c0009	a0001c0002t0001 a0001c0002t0003 a0001c0008t0001 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0008t0001 a0002c0009t0002	a0001c0002t0001g0131 a0001c0002t0001g0215 a0001c0002t0003g0129 others(3): Show a0001c0002t0001g0131 a0001c0002t0001g0215 a0001c0002t0003g0129 a0001c0008t0001g0130 a0002c0009t0002g0132 a0002c0009t0002g0237	6	246	0.0244	10	c.242 others(27): Show c.242+2453_242+2462dupGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(3): Show TGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02559.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0001 a0002c0009t0002 a0001c0002t0001 a0002c0009t0002	a0001c0002t0001g0211 a0002c0009t0002g0237 a0001c0002t0001g0211 a0002c0009t0002g0237	2	246	0.0081	10	c.354 others(23): Show c.354+34_354+35insGTGTGTGGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(3): Show TGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp2 others(6): Show HG00544.hp1 HG00544.hp2 HG00558.hp2 HG02040.hp2 HG02074.hp1 HG02280.hp2 NA19057.hp2 NA19066.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0074 a0001c0011t0001g0141	9	246	0.0366	10	c.354 others(23): Show c.354+34_354+35insGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01175.hp1 others(4): Show HG01168.hp2 HG01169.hp2 HG01175.hp1 HG02451.hp1 HG02896.hp1 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(2): Show a0001c0002 a0001c0005 a0001c0006 a0001c0026 a0001c0047	a0001c0002t0005 a0001c0005t0001 a0001c0006t0002 others(2): Show a0001c0002t0005 a0001c0005t0001 a0001c0006t0002 a0001c0026t0001 a0001c0047t0001	a0001c0002t0005g0004 a0001c0002t0005g0145 a0001c0005t0001g0168 others(3): Show a0001c0002t0005g0004 a0001c0002t0005g0145 a0001c0005t0001g0168 a0001c0006t0002g0112 a0001c0026t0001g0099 a0001c0047t0001g0212	7	246	0.0285	10	c.586 others(25): Show c.586+777_586+786dupTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50589892	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp1 others(16): Show HG01167.hp1 HG01169.hp1 HG01243.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0003 a0001c0017 others(5): Show a0001c0002 a0001c0003 a0001c0017 a0001c0031 a0001c0035 a0002c0009 a0002c0032 a0011c0034	a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 a0001c0031t0001 a0001c0035t0001 a0002c0009t0002 a0002c0032t0006 a0011c0034t0001	a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 others(15): Show a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0114 a0001c0003t0001g0002 a0001c0003t0001g0067 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0234 a0001c0017t0001g0136 a0001c0031t0001g0070 a0001c0035t0001g0108 a0002c0009t0002g0223 a0002c0009t0002g0237 a0002c0032t0006g0217 a0011c0034t0001g0006	19	246	0.0772	10	c.230 others(27): Show c.2302-578_2302-577insCTCTCTCTCT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50589912	C C	CTCTCTCT others(3): Show CTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0026 a0001c0039 a0001c0026 a0001c0039	a0001c0026t0001 a0001c0039t0001 a0001c0026t0001 a0001c0039t0001	a0001c0026t0001g0099 a0001c0039t0001g0153 a0001c0026t0001g0099 a0001c0039t0001g0153	2	246	0.0081	10	c.230 others(27): Show c.2302-558_2302-557insCTCTCTCTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50623263	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0108 a0001c0035t0001g0108	1	246	0.0041	10	c.606 others(27): Show c.6061-622_6061-613dupTTTTTTTTTT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39598288	C C	CGCCCCGC others(3): Show CGCCCCGCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0002 a0006c0031t0002	a0006c0031t0002g0188 a0006c0031t0002g0188	1	236	0.0042	10	c.348 others(23): Show c.348+30_348+31insCGCCCTGCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601952	T T	TCCCTCCC others(3): Show TCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0028 a0001c0035t0028	a0001c0035t0028g0102 a0001c0035t0028g0102	1	236	0.0042	10	c.482 others(27): Show c.482+1300_482+1301insCCTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39629532	C C	CGGCCAGG others(3): Show CGGCCAGGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(105): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.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 NA19030.hp1 NA19043.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0014 a0016 a0018 a0019 a0020 a0022 a0024 a0026 a0027 a0028 a0031	a0001c0001 a0001c0002 a0001c0014 others(31): Show a0001c0001 a0001c0002 a0001c0014 a0001c0017 a0001c0019 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0028 a0001c0035 a0001c0059 a0002c0024 a0002c0032 a0003c0005 a0003c0009 a0004c0004 a0004c0007 a0005c0006 a0006c0011 a0006c0031 a0009c0030 a0011c0015 a0014c0038 a0016c0057 a0018c0036 a0019c0061 a0020c0054 a0022c0052 a0024c0048 a0026c0045 a0027c0033 a0028c0062 a0031c0053	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(56): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0036 a0001c0001t0038 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0057 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0031 a0001c0002t0045 a0001c0014t0030 a0001c0017t0002 a0001c0019t0001 a0001c0021t0010 a0001c0022t0010 a0001c0025t0051 a0001c0026t0015 a0001c0028t0005 a0001c0035t0028 a0001c0059t0003 a0002c0024t0001 a0002c0032t0013 a0003c0005t0005 a0003c0005t0008 a0003c0005t0054 a0003c0009t0006 a0004c0004t0043 a0004c0007t0014 a0004c0007t0042 a0005c0006t0006 a0005c0006t0060 a0006c0011t0003 a0006c0031t0002 a0009c0030t0002 a0009c0030t0003 a0011c0015t0005 a0011c0015t0015 a0011c0015t0055 a0014c0038t0041 a0016c0057t0002 a0018c0036t0044 a0019c0061t0002 a0020c0054t0018 a0022c0052t0002 a0024c0048t0007 a0026c0045t0020 a0027c0033t0020 a0028c0062t0011 a0031c0053t0004	a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 others(105): Show a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0004g0133 a0001c0001t0009g0134 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0036g0086 a0001c0001t0038g0161 a0001c0001t0047g0168 a0001c0001t0048g0128 a0001c0001t0050g0153 a0001c0001t0057g0067 a0001c0002t0002g0179 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0210 a0001c0002t0002g0223 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0180 a0001c0002t0003g0186 a0001c0002t0003g0212 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0228 a0001c0002t0004g0187 a0001c0002t0004g0190 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0209 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0007g0196 a0001c0002t0007g0203 a0001c0002t0007g0214 a0001c0002t0007g0218 a0001c0002t0007g0229 a0001c0002t0011g0069 a0001c0002t0014g0226 a0001c0002t0017g0215 a0001c0002t0031g0200 a0001c0002t0045g0195 a0001c0014t0030g0129 a0001c0017t0002g0157 a0001c0017t0002g0158 a0001c0019t0001g0146 a0001c0021t0010g0004 a0001c0022t0010g0113 a0001c0022t0010g0130 a0001c0025t0051g0169 a0001c0026t0015g0136 a0001c0028t0005g0127 a0001c0035t0028g0102 a0001c0059t0003g0201 a0002c0024t0001g0090 a0002c0024t0001g0091 a0002c0032t0013g0224 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0044 a0003c0005t0008g0171 a0003c0005t0054g0066 a0003c0009t0006g0084 a0003c0009t0006g0085 a0004c0004t0043g0064 a0004c0007t0014g0207 a0004c0007t0014g0208 a0004c0007t0042g0181 a0005c0006t0006g0096 a0005c0006t0006g0097 a0005c0006t0006g0098 a0005c0006t0006g0099 a0005c0006t0006g0100 a0005c0006t0006g0101 a0005c0006t0006g0112 a0005c0006t0060g0095 a0006c0011t0003g0013 a0006c0031t0002g0188 a0006c0031t0002g0221 a0009c0030t0002g0213 a0009c0030t0003g0183 a0011c0015t0005g0108 a0011c0015t0015g0111 a0011c0015t0055g0109 a0014c0038t0041g0166 a0016c0057t0002g0211 a0018c0036t0044g0167 a0019c0061t0002g0225 a0020c0054t0018g0178 a0022c0052t0002g0220 a0024c0048t0007g0149 a0026c0045t0020g0083 a0027c0033t0020g0082 a0028c0062t0011g0110 a0031c0053t0004g0184	108	236	0.4576	10	c.581 others(27): Show c.581-5021_581-5012dupGCCAGGCAGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39629534	G G	GCCAGGCA others(3): Show GCCAGGCAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0194 a0001c0060t0001g0194	1	236	0.0042	10	c.581 others(27): Show c.581-5022_581-5021insTCCAGGCAGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39651152	G G	GTCACTGG others(3): Show GTCACTGGCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 NA19240.hp2 others(1): Show HG03041.hp1 HG03195.hp2 NA19240.hp2 NA21309.hp2	a0002 a0002	a0002c0013 a0002c0024 a0002c0013 a0002c0024	a0002c0013t0001 a0002c0013t0029 a0002c0024t0001 a0002c0013t0001 a0002c0013t0029 a0002c0024t0001	a0002c0013t0001g0140 a0002c0013t0029g0164 a0002c0024t0001g0090 others(1): Show a0002c0013t0001g0140 a0002c0013t0029g0164 a0002c0024t0001g0090 a0002c0024t0001g0091	4	236	0.0170	10	c.199 others(29): Show c.1992+1228_1992+1237dupTCACTGGCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686615	T T	TATATATA others(3): Show TATATATATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02683.hp1 NA18969.hp1 HG02165.hp1 HG02683.hp1 NA18969.hp1	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0016 a0004c0007t0016 a0004c0007t0037 a0004c0004t0016 a0004c0007t0016 a0004c0007t0037	a0004c0004t0016g0150 a0004c0007t0016g0191 a0004c0007t0037g0216 a0004c0004t0016g0150 a0004c0007t0016g0191 a0004c0007t0037g0216	3	236	0.0127	10	c.21 others(19): Show c.218_*219insGCATATATAT	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(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0121 a0001c0004t0001g0121	1	314	0.0032	10	c.40 others(21): Show c.4012_*4013insAAAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201036004	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02717.hp2 others(8): Show HG02257.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03540.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0014 others(2): Show a0001 a0002 a0014 a0021 a0023	a0001c0004 a0001c0009 a0001c0017 others(5): Show a0001c0004 a0001c0009 a0001c0017 a0001c0033 a0002c0010 a0014c0032 a0021c0097 a0023c0094	a0001c0004t0001 a0001c0009t0001 a0001c0017t0001 others(5): Show a0001c0004t0001 a0001c0009t0001 a0001c0017t0001 a0001c0033t0001 a0002c0010t0001 a0014c0032t0001 a0021c0097t0001 a0023c0094t0001	a0001c0004t0001g0040 a0001c0004t0001g0123 a0001c0009t0001g0053 others(8): Show a0001c0004t0001g0040 a0001c0004t0001g0123 a0001c0009t0001g0053 a0001c0017t0001g0223 a0001c0033t0001g0082 a0001c0033t0001g0251 a0002c0010t0001g0117 a0014c0032t0001g0267 a0014c0032t0001g0268 a0021c0097t0001g0037 a0023c0094t0001g0246	11	314	0.0350	10	c.38 others(21): Show c.3826_*3827insCACACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3507		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056066	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0117 a0002c0010t0001g0117	1	314	0.0032	10	c.361 others(29): Show c.3610-1506_3610-1505insGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056070	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp1 HG02109.hp2 others(2): Show HG01891.hp1 HG01952.hp1 HG02109.hp2 HG03041.hp1 HG03139.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0014 a0001c0026 a0002c0012 others(1): Show a0001c0014 a0001c0026 a0002c0012 a0009c0019	a0001c0014t0001 a0001c0026t0001 a0002c0012t0001 others(1): Show a0001c0014t0001 a0001c0026t0001 a0002c0012t0001 a0009c0019t0001	a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0026t0001g0027 others(2): Show a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0026t0001g0027 a0002c0012t0001g0256 a0009c0019t0001g0253	5	314	0.0159	10	c.361 others(29): Show c.3610-1519_3610-1510dupGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056082	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp1 HG02080.hp1 others(2): Show HG00438.hp2 HG02071.hp1 HG02080.hp1 NA18747.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0240 a0001c0001t0001g0271 a0001c0001t0001g0276 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0002t0001g0104 a0001c0003t0001g0211	5	314	0.0159	10	c.361 others(29): Show c.3610-1522_3610-1521insATGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056084	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0107 a0001c0017t0001g0107	1	314	0.0032	10	c.361 others(29): Show c.3610-1524_3610-1523insATGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201095121	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	314	0.0032	10	c.259 others(27): Show c.259-1110_259-1101dupACACACACAC	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	2/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81955980	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0114 a0001c0001t0020g0114	1	144	0.0069	10	c.315 others(29): Show c.3159+3294_3159+3295insAATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81957271	A A	ATGTTTCA others(3): Show ATGTTTCATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0073 a0001c0001t0008g0073	1	144	0.0069	10	c.315 others(29): Show c.3159+1994_3159+2003dupAAATGAAACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0114 a0001c0001t0020g0114	1	144	0.0069	10	c.195 others(29): Show c.1955+3804_1955+3813dupTATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGCGTGT others(3): Show GTGCGTGTGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00735.hp2 others(30): Show HG00621.hp1 HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG02080.hp2 HG02148.hp1 HG02258.hp2 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG03225.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18960.hp2 NA18968.hp2 NA18981.hp2 NA18986.hp1 NA19007.hp1 NA19057.hp1 NA19066.hp2 NA19070.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0002c0005t0002	a0001c0001t0002g0103 a0001c0001t0002g0143 a0001c0001t0003g0003 others(30): Show a0001c0001t0002g0103 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0039 a0001c0001t0005g0099 a0001c0001t0005g0123 a0001c0001t0006g0125 a0001c0001t0015g0006 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0002g0095 a0001c0002t0002g0108 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0090 a0001c0002t0010g0092 a0001c0002t0019g0107 a0002c0005t0002g0134	33	144	0.2292	10	c.195 others(29): Show c.1955+3813_1955+3814insTACACACGCA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTGT others(3): Show GTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(18): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02809.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0004t0008 a0001c0007t0003	a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 others(18): Show a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0086 a0001c0001t0005g0096 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0109 a0001c0001t0005g0126 a0001c0001t0005g0136 a0001c0001t0006g0138 a0001c0001t0007g0015 a0001c0001t0007g0085 a0001c0001t0008g0073 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0004t0008g0024 a0001c0007t0003g0075	21	144	0.1458	10	c.195 others(29): Show c.1955+3813_1955+3814insTATACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03579.hp2 HG01433.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0003g0076 a0001c0001t0001g0077 a0001c0001t0003g0076	2	144	0.0139	10	c.195 others(29): Show c.1955+3813_1955+3814insTACACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82022222	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG03579.hp2 HG02559.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0070 a0001c0001t0003g0076 a0001c0001t0007g0015 a0001c0001t0001g0070 a0001c0001t0003g0076 a0001c0001t0007g0015	3	144	0.0208	10	c.114 others(29): Show c.1144-7753_1144-7744dupGTGTGTGTGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	12/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0067 a0001c0003t0002g0137 a0001c0001t0003g0067 a0001c0003t0002g0137	2	144	0.0139	10	c.527 others(29): Show c.527-14532_527-14523dupAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0104 a0001c0004t0006g0104	1	144	0.0069	10	c.355 others(27): Show c.355-4288_355-4279dupTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0104 a0001c0004t0006g0104	1	144	0.0069	10	c.295 others(29): Show c.295-10442_295-10433dupAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(3): Show CACATACATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	144	0.0069	10	c.295 others(29): Show c.295-46782_295-46781insATATGTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18952.hp2 HG01433.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0077 a0001c0008t0001g0004 a0001c0001t0001g0077 a0001c0008t0001g0004	2	144	0.0139	10	c.295 others(29): Show c.295-46795_295-46786dupATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217634	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02717.hp1 others(8): Show HG02109.hp2 HG02451.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0002t0001 a0001c0003t0001	a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0076 others(8): Show a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0076 a0001c0001t0005g0136 a0001c0001t0007g0020 a0001c0001t0009g0065 a0001c0001t0011g0028 a0001c0001t0021g0113 a0001c0002t0001g0014 a0001c0002t0001g0026 a0001c0003t0001g0025	11	144	0.0764	10	c.295 others(29): Show c.295-47035_295-47026dupTGTGTGTGTG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82229686	T T	TTTTTATT others(3): Show TTTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01433.hp1 others(25): Show HG01074.hp1 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG04184.hp2 NA18906.hp1 NA18952.hp1 NA18952.hp2 NA18968.hp1 NA19007.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0007t0003 a0001c0008t0001 a0002c0005t0002	a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0001g0077 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0002g0103 a0001c0001t0002g0141 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0086 a0001c0001t0004g0042 a0001c0001t0005g0101 a0001c0001t0006g0098 a0001c0001t0006g0138 a0001c0001t0007g0078 a0001c0001t0007g0085 a0001c0001t0008g0023 a0001c0001t0009g0080 a0001c0001t0010g0089 a0001c0001t0014g0048 a0001c0001t0023g0144 a0001c0002t0001g0017 a0001c0002t0001g0063 a0001c0002t0010g0090 a0001c0003t0001g0011 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0007t0003g0075 a0001c0008t0001g0004 a0002c0005t0002g0134	28	144	0.1944	10	c.295 others(29): Show c.295-59087_295-59078dupTAAAATAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82232861	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0087 a0001c0001t0008g0073 a0001c0001t0001g0087 a0001c0001t0008g0073	2	144	0.0139	10	c.295 others(29): Show c.295-62262_295-62253dupTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82245676	A A	ACACACAC others(3): Show ACACACACACT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp1 HG01891.hp2 others(4): Show HG01071.hp2 HG01074.hp1 HG01891.hp2 HG02027.hp1 HG02738.hp2 HG03139.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0002t0010 a0001c0008t0001 a0002c0005t0002	a0001c0001t0001g0038 a0001c0001t0006g0098 a0001c0001t0007g0085 others(4): Show a0001c0001t0001g0038 a0001c0001t0006g0098 a0001c0001t0007g0085 a0001c0001t0023g0144 a0001c0002t0010g0090 a0001c0008t0001g0004 a0002c0005t0002g0134	7	144	0.0486	10	c.295 others(29): Show c.295-75068_295-75067insAGTGTGTGTG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01891.hp1 others(10): Show HG00642.hp1 HG01069.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02698.hp1 HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0003g0034 a0001c0001t0004g0074 others(10): Show a0001c0001t0001g0010 a0001c0001t0003g0034 a0001c0001t0004g0074 a0001c0001t0005g0106 a0001c0001t0005g0136 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0084 a0001c0001t0008g0083 a0001c0001t0009g0065 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0003t0001g0025	13	144	0.0903	10	c.294 others(29): Show c.294+38053_294+38062dupTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297096	A A	AAAAAAAA others(3): Show AAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0089 a0001c0001t0010g0089	1	144	0.0069	10	c.294 others(29): Show c.294+38038_294+38039insATTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82301730	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02970.hp1 HG02630.hp1 HG02895.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0058 a0001c0001t0005g0126 a0001c0001t0012g0127 a0001c0001t0001g0058 a0001c0001t0005g0126 a0001c0001t0012g0127	3	144	0.0208	10	c.294 others(29): Show c.294+33395_294+33404dupGTGTGTGTGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(3): Show TAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	144	0.0069	10	c.294 others(27): Show c.294+2615_294+2624dupTTCTTTCTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82345681	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02109.hp2 HG03225.hp2 HG00621.hp1 HG02109.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0002t0019 a0001c0001t0005 a0001c0001t0009 a0001c0002t0019	a0001c0001t0005g0136 a0001c0001t0009g0065 a0001c0002t0019g0107 a0001c0001t0005g0136 a0001c0001t0009g0065 a0001c0002t0019g0107	3	144	0.0208	10	c.177 others(27): Show c.177+3877_177+3886dupACACACACAC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	2/38			chr7	TogoVar

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