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	181795767	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 NA18906.hp2 HG01109.hp1 HG01884.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0024 a0001c0005t0024 a0003c0003t0061 a0001c0001t0024 a0001c0005t0024 a0003c0003t0061	a0001c0001t0024g0112 a0001c0005t0024g0003 a0003c0003t0061g0059 a0001c0001t0024g0112 a0001c0005t0024g0003 a0003c0003t0061g0059	3	206	0.0146	12	c.620 others(29): Show c.6208+732_6208+743dupATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49235826	T T	TACACACA others(5): Show TACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA18906.hp1 HG01891.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0029 a0003c0004 a0003c0029	a0003c0004t0001 a0003c0029t0001 a0003c0004t0001 a0003c0029t0001	a0003c0004t0001g0170 a0003c0029t0001g0166 a0003c0004t0001g0170 a0003c0029t0001g0166	2	290	0.0069	12	c.-25 others(23): Show c.-2529_-2518dupGTGTGTGTGTGT	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2487		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235861	A A	ACACACAC others(5): Show ACACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG03139.hp1 others(1): Show HG02055.hp1 HG02109.hp2 HG03139.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0007 a0004c0005 a0004c0007	a0004c0005t0001 a0004c0007t0001 a0004c0005t0001 a0004c0007t0001	a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0054 others(1): Show a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0054 a0004c0007t0001g0050	4	290	0.0138	12	c.-25 others(23): Show c.-2553_-2552insCGTGTGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2522		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01346.hp2 others(19): Show HG00323.hp2 HG01106.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA18973.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0002c0009 a0002c0013 a0003c0021 a0011c0034	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0010 a0001c0010t0001 a0001c0011t0002 a0002c0009t0001 a0002c0013t0002 a0003c0021t0002 a0011c0034t0001	a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 others(19): Show a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0003g0123 a0001c0003t0001g0119 a0001c0003t0001g0126 a0001c0004t0001g0120 a0001c0004t0001g0122 a0001c0004t0001g0124 a0001c0006t0001g0213 a0001c0006t0002g0112 a0001c0008t0010g0214 a0001c0010t0001g0128 a0001c0011t0002g0236 a0002c0009t0001g0116 a0002c0013t0002g0069 a0003c0021t0002g0127 a0011c0034t0001g0006	22	246	0.0894	12	c.242 others(29): Show c.242+2451_242+2462dupGTGTGTGTGTGT	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(5): Show TGTGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG01256.hp2 others(10): Show HG00323.hp2 HG00408.hp1 HG01256.hp2 HG01261.hp1 HG01516.hp2 HG02258.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03579.hp2 HG04199.hp2 NA18951.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0002c0009	a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0002c0009t0002	a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 others(10): Show a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0003t0001g0111 a0001c0003t0008g0226 a0001c0004t0001g0103 a0001c0004t0001g0122 a0001c0006t0001g0178 a0001c0008t0001g0048 a0001c0008t0001g0104 a0001c0008t0001g0130 a0002c0009t0002g0085	13	246	0.0529	12	c.354 others(25): Show c.354+34_354+35insGTGTGTGTGGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(5): Show TGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01099.hp1 others(11): Show HG00140.hp1 HG00280.hp1 HG01099.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG02683.hp1 HG02965.hp2 HG03017.hp2 HG03579.hp1 HG04199.hp1 NA18971.hp2 NA18983.hp2 homoSapiens_chm13v2.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0015c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0010t0001 a0015c0023t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0194 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0194 a0001c0002t0001g0206 a0001c0002t0003g0207 a0001c0005t0002g0150 a0001c0005t0003g0045 a0001c0006t0001g0186 a0001c0006t0001g0187 a0001c0006t0001g0208 a0001c0007t0001g0205 a0001c0007t0004g0148 a0001c0010t0001g0065 a0015c0023t0001g0073	14	246	0.0569	12	c.354 others(25): Show c.354+34_354+35insGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02735.hp2 HG03516.hp1 others(2): Show HG02630.hp1 HG02735.hp2 HG03516.hp1 HG03688.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0024 others(2): Show a0001c0002 a0001c0003 a0001c0024 a0001c0038 a0001c0040	a0001c0002t0002 a0001c0003t0001 a0001c0024t0001 others(2): Show a0001c0002t0002 a0001c0003t0001 a0001c0024t0001 a0001c0038t0001 a0001c0040t0004	a0001c0002t0002g0094 a0001c0003t0001g0167 a0001c0024t0001g0014 others(2): Show a0001c0002t0002g0094 a0001c0003t0001g0167 a0001c0024t0001g0014 a0001c0038t0001g0056 a0001c0040t0004g0146	5	246	0.0203	12	c.586 others(27): Show c.586+775_586+786dupTGTGTGTGTGTG	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(5): Show TTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG01243.hp2 HG02572.hp1	a0001 a0010 a0001 a0010	a0001c0045 a0010c0033 a0001c0045 a0010c0033	a0001c0045t0001 a0010c0033t0002 a0001c0045t0001 a0010c0033t0002	a0001c0045t0001g0109 a0010c0033t0002g0068 a0001c0045t0001g0109 a0010c0033t0002g0068	2	246	0.0081	12	c.230 others(29): Show c.2302-578_2302-577insCTCTCTCTCTCT	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(5): Show CTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp2 NA20129.hp2 HG02109.hp1 HG03225.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0044 a0002c0009 a0003c0021 a0001c0044 a0002c0009 a0003c0021	a0001c0044t0001 a0002c0009t0002 a0003c0021t0002 a0001c0044t0001 a0002c0009t0002 a0003c0021t0002	a0001c0044t0001g0225 a0002c0009t0002g0132 a0003c0021t0002g0127 a0001c0044t0001g0225 a0002c0009t0002g0132 a0003c0021t0002g0127	3	246	0.0122	12	c.230 others(29): Show c.2302-558_2302-557insCTCTCTCTCTGT	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(5): Show CTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01891.hp2 others(5): Show HG01099.hp1 HG01884.hp1 HG01891.hp2 HG02280.hp1 HG02486.hp2 HG02717.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0041 others(1): Show a0001c0008 a0001c0010 a0001c0041 a0001c0047	a0001c0008t0010 a0001c0010t0001 a0001c0010t0004 others(2): Show a0001c0008t0010 a0001c0010t0001 a0001c0010t0004 a0001c0041t0002 a0001c0047t0001	a0001c0008t0010g0214 a0001c0010t0001g0065 a0001c0010t0001g0072 others(5): Show a0001c0008t0010g0214 a0001c0010t0001g0065 a0001c0010t0001g0072 a0001c0010t0001g0128 a0001c0010t0004g0220 a0001c0010t0004g0221 a0001c0041t0002g0110 a0001c0047t0001g0212	8	246	0.0325	12	c.230 others(29): Show c.2302-558_2302-557insCTCTCTCTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50619518	C C	CTGTGTGT others(5): Show CTGTGTGTTTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG02886.hp2 HG02976.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0051 a0003c0015t0002g0066 a0003c0015t0002g0051 a0003c0015t0002g0066	2	246	0.0081	12	c.578 others(29): Show c.5782-158_5782-157insTTGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1178051	A A	ACCCCGGA others(5): Show ACCCCGGAACCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA18522.hp2 NA20129.hp2	a0005 a0022 a0005 a0022	a0005c0023 a0022c0066 a0005c0023 a0022c0066	a0005c0023t0003 a0022c0066t0025 a0005c0023t0003 a0022c0066t0025	a0005c0023t0003g0045 a0022c0066t0025g0232 a0005c0023t0003g0045 a0022c0066t0025g0232	2	338	0.0059	12	c.300 others(31): Show c.300-16916_300-16905dupGGAACCCCCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1195207	A A	ATCAGGGC others(5): Show ATCAGGGCAAGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0045 a0005c0023t0003g0045	1	338	0.0030	12	c.411 others(27): Show c.411+131_411+132insAAGGTTCAGGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1195207	A A	ATCAGGGC others(5): Show ATCAGGGCGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02280.hp2 others(3): Show HG02109.hp2 HG02258.hp1 HG02280.hp2 HG03516.hp2 HG03579.hp2 NA19030.hp1	a0003 a0049 a0051 others(2): Show a0003 a0049 a0051 a0067 a0080	a0003c0022 a0049c0069 a0051c0065 others(2): Show a0003c0022 a0049c0069 a0051c0065 a0067c0067 a0080c0068	a0003c0022t0020 a0003c0022t0028 a0049c0069t0033 others(3): Show a0003c0022t0020 a0003c0022t0028 a0049c0069t0033 a0051c0065t0007 a0067c0067t0020 a0080c0068t0004	a0003c0022t0020g0025 a0003c0022t0028g0026 a0049c0069t0033g0049 others(3): Show a0003c0022t0020g0025 a0003c0022t0028g0026 a0049c0069t0033g0049 a0051c0065t0007g0202 a0067c0067t0020g0323 a0080c0068t0004g0290	6	338	0.0178	12	c.411 others(27): Show c.411+128_411+139dupGGGCGAGGTTCA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39566020	T T	TTGGTGAT others(5): Show TTGGTGATGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0197 a0001c0002t0004g0197	1	236	0.0042	12	c.-47 others(23): Show c.-4733_-4732insTGGTGATGGTGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		4732		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39570246	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02809.hp1 others(5): Show HG02280.hp1 HG02572.hp2 HG02809.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0002c0003 others(1): Show a0001c0001 a0001c0014 a0002c0003 a0003c0005	a0001c0001t0005 a0001c0014t0001 a0002c0003t0001 others(2): Show a0001c0001t0005 a0001c0014t0001 a0002c0003t0001 a0002c0003t0010 a0003c0005t0008	a0001c0001t0005g0050 a0001c0014t0001g0045 a0002c0003t0001g0046 others(5): Show a0001c0001t0005g0050 a0001c0014t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0010g0047 a0003c0005t0008g0044	8	236	0.0339	12	c.-50 others(21): Show c.-507_-506insCCTTCCTTCCTT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		506		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTTCTTCC others(5): Show TTTCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01884.hp2 others(22): Show HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03225.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 NA18522.hp2 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0025 a0033	a0001c0001 a0001c0008 a0001c0014 others(11): Show a0001c0001 a0001c0008 a0001c0014 a0001c0025 a0001c0026 a0001c0028 a0002c0003 a0002c0013 a0002c0049 a0003c0005 a0004c0004 a0006c0011 a0025c0039 a0033c0042	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0050 a0001c0008t0004 a0001c0008t0007 a0001c0014t0012 a0001c0025t0051 a0001c0026t0015 a0001c0028t0004 a0001c0028t0005 a0002c0003t0001 a0002c0013t0012 a0002c0049t0026 a0003c0005t0005 a0003c0005t0008 a0004c0004t0016 a0006c0011t0005 a0025c0039t0005 a0033c0042t0006	a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0003g0152 others(22): Show a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0003g0152 a0001c0001t0003g0160 a0001c0001t0005g0118 a0001c0001t0007g0141 a0001c0001t0008g0139 a0001c0001t0050g0153 a0001c0008t0004g0132 a0001c0008t0007g0135 a0001c0014t0012g0126 a0001c0025t0051g0169 a0001c0026t0015g0136 a0001c0028t0004g0138 a0001c0028t0005g0127 a0002c0003t0001g0159 a0002c0013t0012g0137 a0002c0049t0026g0155 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0171 a0004c0004t0016g0150 a0006c0011t0005g0120 a0025c0039t0005g0119 a0033c0042t0006g0124	25	236	0.1059	12	c.-46 others(21): Show c.-464_-463insTTCTTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39583134	C C	CTCCATCC others(5): Show CTCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18982.hp1 NA18982.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0025 a0028 a0029 a0030 a0031 a0032 a0033	a0001c0001 a0001c0002 a0001c0008 others(46): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0028 a0001c0035 a0001c0055 a0001c0060 a0002c0003 a0002c0013 a0002c0018 a0002c0032 a0002c0049 a0003c0005 a0003c0016 a0004c0004 a0004c0007 a0004c0058 a0005c0006 a0006c0011 a0006c0031 a0007c0010 a0009c0030 a0010c0027 a0010c0046 a0011c0015 a0012c0020 a0013c0050 a0014c0038 a0015c0043 a0016c0057 a0017c0044 a0018c0036 a0019c0061 a0020c0054 a0022c0052 a0023c0037 a0025c0039 a0028c0062 a0029c0034 a0030c0041 a0031c0053 a0032c0047 a0033c0042	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(104): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0057 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0031 a0001c0002t0045 a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 a0001c0008t0007 a0001c0014t0001 a0001c0014t0030 a0001c0017t0002 a0001c0021t0010 a0001c0021t0032 a0001c0022t0010 a0001c0025t0051 a0001c0026t0015 a0001c0028t0004 a0001c0028t0005 a0001c0035t0028 a0001c0055t0003 a0001c0060t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0003t0010 a0002c0003t0012 a0002c0003t0013 a0002c0003t0025 a0002c0003t0027 a0002c0003t0049 a0002c0013t0001 a0002c0013t0012 a0002c0013t0029 a0002c0018t0001 a0002c0032t0001 a0002c0032t0013 a0002c0049t0026 a0003c0005t0005 a0003c0005t0008 a0003c0005t0053 a0003c0005t0054 a0003c0016t0005 a0004c0004t0018 a0004c0004t0019 a0004c0004t0034 a0004c0004t0035 a0004c0007t0014 a0004c0007t0023 a0004c0007t0024 a0004c0007t0037 a0004c0007t0042 a0004c0058t0040 a0005c0006t0006 a0005c0006t0060 a0006c0011t0003 a0006c0011t0004 a0006c0011t0005 a0006c0011t0008 a0006c0031t0002 a0007c0010t0001 a0009c0030t0002 a0009c0030t0003 a0010c0027t0004 a0010c0027t0013 a0010c0046t0001 a0011c0015t0005 a0011c0015t0015 a0011c0015t0055 a0012c0020t0022 a0013c0050t0009 a0014c0038t0041 a0015c0043t0001 a0016c0057t0002 a0017c0044t0033 a0018c0036t0044 a0019c0061t0002 a0020c0054t0018 a0022c0052t0002 a0023c0037t0001 a0025c0039t0005 a0028c0062t0011 a0029c0034t0002 a0030c0041t0001 a0031c0053t0004 a0032c0047t0005 a0033c0042t0006	a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0023 others(187): Show a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0023 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0004g0065 a0001c0001t0004g0107 a0001c0001t0004g0133 a0001c0001t0005g0007 a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0125 a0001c0001t0007g0038 a0001c0001t0008g0008 a0001c0001t0008g0131 a0001c0001t0008g0139 a0001c0001t0009g0134 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0036g0086 a0001c0001t0038g0161 a0001c0001t0039g0121 a0001c0001t0047g0168 a0001c0001t0048g0128 a0001c0001t0050g0153 a0001c0001t0052g0075 a0001c0001t0057g0067 a0001c0002t0002g0179 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0210 a0001c0002t0002g0223 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0180 a0001c0002t0003g0186 a0001c0002t0003g0212 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0228 a0001c0002t0004g0190 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0209 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0007g0196 a0001c0002t0007g0203 a0001c0002t0007g0214 a0001c0002t0007g0218 a0001c0002t0007g0229 a0001c0002t0011g0069 a0001c0002t0014g0226 a0001c0002t0017g0215 a0001c0002t0031g0200 a0001c0002t0045g0195 a0001c0008t0002g0009 a0001c0008t0003g0103 a0001c0008t0004g0132 a0001c0008t0007g0104 a0001c0008t0007g0105 a0001c0008t0007g0135 a0001c0014t0001g0045 a0001c0014t0030g0129 a0001c0017t0002g0157 a0001c0017t0002g0158 a0001c0021t0010g0004 a0001c0021t0032g0030 a0001c0022t0010g0113 a0001c0022t0010g0130 a0001c0025t0051g0169 a0001c0026t0015g0136 a0001c0028t0004g0138 a0001c0028t0005g0127 a0001c0035t0028g0102 a0001c0055t0003g0185 a0001c0060t0001g0194 a0002c0003t0001g0001 a0002c0003t0001g0020 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0046 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0106 a0002c0003t0001g0144 a0002c0003t0001g0156 a0002c0003t0001g0159 a0002c0003t0001g0163 a0002c0003t0004g0005 a0002c0003t0004g0006 a0002c0003t0009g0012 a0002c0003t0009g0014 a0002c0003t0009g0015 a0002c0003t0010g0047 a0002c0003t0012g0002 a0002c0003t0013g0017 a0002c0003t0025g0028 a0002c0003t0027g0019 a0002c0003t0049g0010 a0002c0013t0001g0140 a0002c0013t0012g0137 a0002c0013t0029g0164 a0002c0018t0001g0029 a0002c0018t0001g0036 a0002c0032t0001g0231 a0002c0032t0013g0224 a0002c0049t0026g0155 a0003c0005t0005g0079 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0044 a0003c0005t0008g0171 a0003c0005t0053g0142 a0003c0005t0054g0066 a0003c0016t0005g0088 a0003c0016t0005g0089 a0004c0004t0018g0003 a0004c0004t0019g0021 a0004c0004t0019g0022 a0004c0004t0034g0011 a0004c0004t0035g0025 a0004c0007t0014g0207 a0004c0007t0014g0208 a0004c0007t0023g0227 a0004c0007t0024g0217 a0004c0007t0037g0216 a0004c0007t0042g0181 a0004c0058t0040g0182 a0005c0006t0006g0096 a0005c0006t0006g0097 a0005c0006t0006g0098 a0005c0006t0006g0099 a0005c0006t0006g0100 a0005c0006t0006g0101 a0005c0006t0006g0112 a0005c0006t0060g0095 a0006c0011t0003g0013 a0006c0011t0004g0031 a0006c0011t0005g0120 a0006c0011t0008g0143 a0006c0031t0002g0188 a0006c0031t0002g0221 a0007c0010t0001g0001 a0007c0010t0001g0016 a0007c0010t0001g0018 a0007c0010t0001g0053 a0007c0010t0001g0154 a0009c0030t0002g0213 a0009c0030t0003g0183 a0010c0027t0004g0035 a0010c0027t0013g0052 a0010c0046t0001g0037 a0011c0015t0005g0108 a0011c0015t0015g0111 a0011c0015t0055g0109 a0012c0020t0022g0072 a0012c0020t0022g0087 a0013c0050t0009g0054 a0014c0038t0041g0166 a0015c0043t0001g0024 a0016c0057t0002g0211 a0017c0044t0033g0076 a0018c0036t0044g0167 a0019c0061t0002g0225 a0020c0054t0018g0178 a0022c0052t0002g0220 a0023c0037t0001g0043 a0025c0039t0005g0119 a0028c0062t0011g0110 a0029c0034t0002g0078 a0030c0041t0001g0074 a0031c0053t0004g0184 a0032c0047t0005g0077 a0033c0042t0006g0124	190	236	0.8051	12	c.236 others(31): Show c.236+12151_236+12162dupTCCATCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39583139	T T	TCCATCCA others(5): Show TCCATCCATCCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG02922.hp1 others(4): Show HG01109.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03453.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0026 a0002c0024 a0003c0005 others(1): Show a0001c0026 a0002c0024 a0003c0005 a0003c0009	a0001c0026t0015 a0002c0024t0001 a0003c0005t0005 others(1): Show a0001c0026t0015 a0002c0024t0001 a0003c0005t0005 a0003c0009t0006	a0001c0026t0015g0092 a0002c0024t0001g0090 a0002c0024t0001g0091 others(4): Show a0001c0026t0015g0092 a0002c0024t0001g0090 a0002c0024t0001g0091 a0003c0005t0005g0055 a0003c0005t0005g0056 a0003c0009t0006g0084 a0003c0009t0006g0085	7	236	0.0297	12	c.236 others(31): Show c.236+12160_236+12171dupCCAGCCATCCAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39600862	C C	CTGGGTGA others(5): Show CTGGGTGAGTTTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0206	1	236	0.0042	12	c.482 others(27): Show c.482+212_482+223dupGGTGAGTTTATG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601964	T T	TCGCCCGC others(5): Show TCGCCCGCCCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03041.hp1 HG03195.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0029 a0002c0013t0001 a0002c0013t0029	a0002c0013t0001g0140 a0002c0013t0029g0164 a0002c0013t0001g0140 a0002c0013t0029g0164	2	236	0.0085	12	c.482 others(29): Show c.482+1312_482+1313insGCCCGCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601972	C C	CCGCCCTC others(5): Show CCGCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	236	0.0042	12	c.482 others(29): Show c.482+1320_482+1321insGCCCTCCCTCTC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39620012	T T	TATCCATC others(5): Show TATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG01169.hp2 others(29): Show HG00733.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18945.hp2 NA19043.hp2 NA20300.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0022	a0001c0001 a0001c0002 a0001c0021 others(12): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0001c0028 a0001c0055 a0003c0005 a0003c0009 a0003c0023 a0004c0004 a0004c0007 a0005c0006 a0006c0011 a0006c0031 a0022c0052	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004 a0001c0002t0017 a0001c0021t0010 a0001c0026t0015 a0001c0028t0005 a0001c0055t0003 a0003c0005t0005 a0003c0005t0008 a0003c0005t0054 a0003c0009t0005 a0003c0023t0005 a0004c0004t0043 a0004c0007t0042 a0005c0006t0006 a0005c0006t0060 a0006c0011t0008 a0006c0031t0002 a0022c0052t0002	a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0003g0160 others(29): Show a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0003g0160 a0001c0001t0005g0050 a0001c0001t0005g0125 a0001c0001t0008g0131 a0001c0001t0038g0161 a0001c0002t0002g0204 a0001c0002t0004g0190 a0001c0002t0017g0215 a0001c0021t0010g0004 a0001c0026t0015g0092 a0001c0026t0015g0136 a0001c0028t0005g0127 a0001c0055t0003g0185 a0003c0005t0005g0172 a0003c0005t0008g0171 a0003c0005t0054g0066 a0003c0009t0005g0177 a0003c0023t0005g0175 a0004c0004t0043g0064 a0004c0007t0042g0181 a0005c0006t0006g0096 a0005c0006t0006g0097 a0005c0006t0006g0098 a0005c0006t0006g0099 a0005c0006t0006g0100 a0005c0006t0006g0101 a0005c0006t0060g0095 a0006c0011t0008g0143 a0006c0031t0002g0188 a0022c0052t0002g0220	32	236	0.1356	12	c.580 others(27): Show c.580+635_580+646dupTCCATCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39656641	G G	GGAATGAA others(5): Show GGAATGAATGAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02486.hp1 others(5): Show HG01243.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp1 HG03139.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp1	a0001 a0029 a0032 a0001 a0029 a0032	a0001c0008 a0029c0034 a0032c0047 a0001c0008 a0029c0034 a0032c0047	a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 others(3): Show a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 a0001c0008t0007 a0029c0034t0002 a0032c0047t0005	a0001c0008t0002g0009 a0001c0008t0003g0103 a0001c0008t0004g0132 others(5): Show a0001c0008t0002g0009 a0001c0008t0003g0103 a0001c0008t0004g0132 a0001c0008t0007g0104 a0001c0008t0007g0105 a0001c0008t0007g0135 a0029c0034t0002g0078 a0032c0047t0005g0077	8	236	0.0339	12	c.199 others(31): Show c.1993-1490_1993-1479dupGAATGAATGAAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201036004	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02071.hp2 HG02293.hp1 others(1): Show HG01928.hp2 HG02071.hp2 HG02293.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0001t0001g0247 a0001c0004t0001g0108	4	314	0.0127	12	c.38 others(23): Show c.3826_*3827insCACACACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3507		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056070	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG02074.hp2 others(16): Show HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp1 HG02647.hp2 HG03098.hp2 HG03486.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 NA18747.hp2 NA18950.hp2 NA18959.hp2 NA18984.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2	a0001 a0002 a0016 others(2): Show a0001 a0002 a0016 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0014 a0001c0016 a0001c0031 a0001c0051 a0002c0045 a0016c0028 a0023c0094 a0025c0061	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0007t0002 a0001c0014t0001 a0001c0016t0001 a0001c0016t0002 a0001c0031t0001 a0001c0051t0001 a0002c0045t0001 a0016c0028t0001 a0023c0094t0001 a0025c0061t0001	a0001c0001t0001g0109 a0001c0001t0001g0248 a0001c0002t0001g0277 others(16): Show a0001c0001t0001g0109 a0001c0001t0001g0248 a0001c0002t0001g0277 a0001c0004t0001g0108 a0001c0007t0001g0062 a0001c0007t0001g0111 a0001c0007t0001g0142 a0001c0007t0002g0303 a0001c0014t0001g0063 a0001c0016t0001g0199 a0001c0016t0002g0302 a0001c0031t0001g0048 a0001c0031t0001g0209 a0001c0051t0001g0064 a0002c0045t0001g0219 a0016c0028t0001g0058 a0016c0028t0001g0222 a0023c0094t0001g0246 a0025c0061t0001g0190	19	314	0.0605	12	c.361 others(31): Show c.3610-1521_3610-1510dupGTGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056078	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0001 a0006c0072t0001	a0006c0072t0001g0039 a0006c0072t0001g0039	1	314	0.0032	12	c.361 others(31): Show c.3610-1518_3610-1517insATGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056080	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	1	314	0.0032	12	c.361 others(31): Show c.3610-1520_3610-1519insATGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056082	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(120): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0012 a0028 a0034 a0036	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0014 a0001c0017 a0001c0029 a0001c0030 a0001c0050 a0001c0063 a0001c0074 a0001c0080 a0001c0084 a0001c0085 a0003c0005 a0003c0015 a0003c0056 a0003c0057 a0003c0083 a0003c0087 a0004c0006 a0005c0049 a0012c0037 a0028c0093 a0034c0069 a0036c0059	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0017t0001 a0001c0029t0001 a0001c0030t0001 a0001c0050t0001 a0001c0063t0001 a0001c0074t0001 a0001c0080t0001 a0001c0084t0001 a0001c0085t0001 a0003c0005t0001 a0003c0005t0002 a0003c0015t0001 a0003c0056t0001 a0003c0057t0001 a0003c0083t0001 a0003c0087t0001 a0004c0006t0001 a0005c0049t0001 a0012c0037t0001 a0028c0093t0001 a0034c0069t0001 a0036c0059t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(117): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0002g0304 a0001c0002t0001g0002 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0077 a0001c0002t0001g0115 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0178 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0272 a0001c0003t0001g0005 a0001c0003t0001g0072 a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0153 a0001c0003t0001g0166 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0242 a0001c0003t0001g0285 a0001c0003t0001g0289 a0001c0003t0002g0306 a0001c0003t0002g0307 a0001c0004t0001g0018 a0001c0004t0001g0029 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0105 a0001c0004t0001g0121 a0001c0004t0001g0123 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0208 a0001c0004t0001g0224 a0001c0009t0001g0186 a0001c0009t0001g0259 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0011t0001g0169 a0001c0014t0001g0252 a0001c0017t0001g0223 a0001c0029t0001g0049 a0001c0029t0001g0274 a0001c0030t0001g0171 a0001c0030t0001g0200 a0001c0050t0001g0233 a0001c0063t0001g0193 a0001c0074t0001g0046 a0001c0080t0001g0269 a0001c0084t0001g0101 a0001c0085t0001g0203 a0003c0005t0001g0073 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0110 a0003c0005t0001g0126 a0003c0005t0001g0130 a0003c0005t0001g0131 a0003c0005t0001g0136 a0003c0005t0001g0137 a0003c0005t0001g0149 a0003c0005t0001g0161 a0003c0005t0001g0191 a0003c0005t0002g0305 a0003c0015t0001g0061 a0003c0015t0001g0078 a0003c0015t0001g0091 a0003c0015t0001g0118 a0003c0056t0001g0176 a0003c0057t0001g0291 a0003c0083t0001g0122 a0003c0087t0001g0093 a0004c0006t0001g0192 a0005c0049t0001g0254 a0012c0037t0001g0229 a0028c0093t0001g0228 a0034c0069t0001g0282 a0036c0059t0001g0083	123	314	0.3917	12	c.361 others(31): Show c.3610-1522_3610-1521insATGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81956845	G G	GTAAATGA others(5): Show GTAAATGAAAAAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	144	0.0069	12	c.315 others(31): Show c.3159+2429_3159+2430insGTTTTTCATTTA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81956845	G G	GTAAATGA others(5): Show GTAAATGAAGAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00642.hp1 others(62): Show HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0004t0003 a0001c0004t0006 a0001c0004t0008 a0001c0007t0003	a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 others(62): Show a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0052 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0006g0093 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0006g0142 a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0015g0006 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0020g0114 a0001c0001t0022g0117 a0001c0001t0023g0144 a0001c0004t0003g0082 a0001c0004t0006g0104 a0001c0004t0008g0024 a0001c0007t0003g0075	65	144	0.4514	12	c.315 others(31): Show c.3159+2418_3159+2429dupGTTCTTCATTTA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81975804	A A	ATGTACAT others(5): Show ATGTACATAGTAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(112): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0008 a0001c0006t0013 a0001c0007t0003 a0002c0005t0002	a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0077 others(112): Show a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0002g0103 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0006g0093 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0006g0142 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0001t0011g0028 a0001c0001t0011g0066 a0001c0001t0012g0127 a0001c0001t0015g0006 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0020g0114 a0001c0001t0021g0113 a0001c0001t0022g0117 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0002g0108 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0090 a0001c0002t0010g0092 a0001c0002t0019g0107 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0004t0003g0082 a0001c0004t0006g0104 a0001c0004t0008g0024 a0001c0006t0013g0069 a0001c0007t0003g0075 a0002c0005t0002g0134	115	144	0.7986	12	c.195 others(31): Show c.1956-1253_1956-1252insCTACTATGTACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	144	0.0069	12	c.195 others(31): Show c.1955+3813_1955+3814insTATATATACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTGT others(5): Show GTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01891.hp2 HG01975.hp2 others(28): Show HG01258.hp2 HG01891.hp2 HG01975.hp2 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp2 NA18952.hp1 NA18961.hp1 NA18961.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0004t0006	a0001c0001t0003g0008 a0001c0001t0003g0052 a0001c0001t0004g0002 others(28): Show a0001c0001t0003g0008 a0001c0001t0003g0052 a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0006g0124 a0001c0001t0006g0142 a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0002t0001g0064 a0001c0004t0006g0104	31	144	0.2153	12	c.195 others(31): Show c.1955+3813_1955+3814insTATATACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG03041.hp1 HG01243.hp2 HG02886.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0083 a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0083	3	144	0.0208	12	c.195 others(31): Show c.1955+3813_1955+3814insTATACACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	144	0.0069	12	c.879 others(29): Show c.879+4497_879+4498insTATATATATACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111428	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	144	0.0069	12	c.526 others(29): Show c.526+5615_526+5616insTATATATACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02886.hp1 others(1): Show HG00639.hp2 HG02257.hp1 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0006g0138 a0001c0001t0007g0059 a0001c0001t0007g0060 others(1): Show a0001c0001t0006g0138 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0012g0102	4	144	0.0278	12	c.355 others(29): Show c.355-1043_355-1032dupTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82139945	C C	CTATTATT others(5): Show CTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18961.hp2 HG03195.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0115 a0001c0002t0001g0014 a0001c0001t0006g0115 a0001c0002t0001g0014	2	144	0.0139	12	c.355 others(29): Show c.355-3281_355-3270dupATAATAATAATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82172640	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 NA18906.hp2 HG02886.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0007g0059 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0007g0059	3	144	0.0208	12	c.295 others(29): Show c.295-2032_295-2031insGAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	144	0.0069	12	c.295 others(31): Show c.295-10444_295-10433dupAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186189	A A	AAGGGAGG others(5): Show AAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	144	0.0069	12	c.295 others(31): Show c.295-15592_295-15581dupCCCTCCCTCCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186235	G G	GAAGGAAG others(5): Show GAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02683.hp2 NA18522.hp1 others(4): Show HG02451.hp2 HG02683.hp2 NA18522.hp1 NA18906.hp2 NA18952.hp1 NA18981.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0100 a0001c0001t0003g0007 a0001c0001t0003g0013 others(4): Show a0001c0001t0002g0100 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0042	7	144	0.0486	12	c.295 others(31): Show c.295-15627_295-15626insTCTTCCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02451.hp2 HG03195.hp1 others(2): Show HG02027.hp1 HG02451.hp2 HG03195.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0001c0002t0001	a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0004g0022 others(2): Show a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0004g0022 a0001c0001t0023g0144 a0001c0002t0001g0014	5	144	0.0347	12	c.295 others(31): Show c.295-46797_295-46786dupATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217910	A A	ATTATTTA others(5): Show ATTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG02572.hp2 others(4): Show HG01243.hp2 HG01433.hp1 HG02572.hp2 HG02809.hp1 HG03098.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0077 a0001c0001t0002g0103 a0001c0001t0006g0138 others(4): Show a0001c0001t0001g0077 a0001c0001t0002g0103 a0001c0001t0006g0138 a0001c0001t0008g0043 a0001c0002t0001g0017 a0001c0003t0001g0072 a0001c0003t0002g0137	7	144	0.0486	12	c.295 others(31): Show c.295-47313_295-47302dupATAAATAAATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82245676	A A	ACACACAC others(5): Show ACACACACACACT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00642.hp1 others(85): Show HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18981.hp2 NA18986.hp2 NA18995.hp1 NA19002.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0006t0013 a0001c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0086 a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0099 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0139 a0001c0001t0006g0112 a0001c0001t0006g0121 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0007g0015 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0009g0080 a0001c0001t0010g0089 a0001c0001t0012g0127 a0001c0001t0016g0019 a0001c0001t0018g0135 a0001c0001t0022g0117 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0002g0108 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0019g0107 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0006t0013g0069 a0001c0007t0003g0075	88	144	0.6111	12	c.295 others(31): Show c.295-75068_295-75067insAGTGTGTGTGTG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82274855	T T	TATGAATG others(5): Show TATGAATGAATGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02451.hp2 HG02630.hp1 others(12): Show HG00642.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG06807.hp1 NA18981.hp2 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0006t0013	a0001c0001t0001g0058 a0001c0001t0003g0013 a0001c0001t0003g0034 others(12): Show a0001c0001t0001g0058 a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0003g0088 a0001c0001t0004g0079 a0001c0001t0005g0126 a0001c0001t0009g0027 a0001c0001t0012g0127 a0001c0001t0021g0113 a0001c0002t0001g0014 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0064 a0001c0002t0002g0130 a0001c0006t0013g0069	15	144	0.1042	12	c.294 others(31): Show c.294+60268_294+60279dupTCATTCATTCAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	144	0.0139	12	c.294 others(31): Show c.294+38051_294+38062dupTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332508	T T	TAGAAAGA others(5): Show TAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02451.hp1 HG01071.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0074 a0001c0001t0005g0105 a0001c0001t0004g0074 a0001c0001t0005g0105	2	144	0.0139	12	c.294 others(29): Show c.294+2626_294+2627insTTCTTTCTTTCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(5): Show TAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02148.hp2 HG02818.hp2 others(4): Show HG02109.hp1 HG02148.hp2 HG02818.hp2 HG03834.hp1 HG04115.hp1 NA18961.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0004t0006	a0001c0001t0002g0097 a0001c0001t0002g0140 a0001c0001t0004g0002 others(4): Show a0001c0001t0002g0097 a0001c0001t0002g0140 a0001c0001t0004g0002 a0001c0001t0004g0053 a0001c0002t0002g0108 a0001c0002t0002g0120 a0001c0004t0006g0104	7	144	0.0486	12	c.294 others(29): Show c.294+2613_294+2624dupCTTTCTTTCTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar

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