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
CACNA1A_chr19_13201442_13511479	13466877	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02055.hp2 HG02572.hp2 others(3): Show HG01169.hp2 HG02055.hp2 HG02572.hp2 HG02683.hp1 HG03540.hp1 NA19065.hp1	a0002 a0003 a0013 others(1): Show a0002 a0003 a0013 a0028	a0002c0003 a0002c0010 a0003c0013 others(3): Show a0002c0003 a0002c0010 a0003c0013 a0003c0108 a0013c0111 a0028c0112	a0002c0003t0002 a0002c0010t0002 a0003c0013t0002 others(3): Show a0002c0003t0002 a0002c0010t0002 a0003c0013t0002 a0003c0108t0005 a0013c0111t0001 a0028c0112t0005	a0002c0003t0002g0086 a0002c0010t0002g0029 a0003c0013t0002g0041 others(3): Show a0002c0003t0002g0086 a0002c0010t0002g0029 a0003c0013t0002g0041 a0003c0108t0005g0210 a0013c0111t0001g0209 a0028c0112t0005g0205	6	100	0.0600	20	c.294 others(39): Show c.294-11685_294-11666dupATAAATAAATAAATAAATAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510018	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG01255.hp2 others(19): Show HG00438.hp2 HG00735.hp2 HG01255.hp2 HG01261.hp2 HG01952.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG03669.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18968.hp2 NA18977.hp1 NA18979.hp2 NA18995.hp1 NA18998.hp1 NA19079.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0014 a0029 a0041	a0001c0001 a0001c0004 a0001c0006 others(15): Show a0001c0001 a0001c0004 a0001c0006 a0001c0020 a0002c0019 a0002c0104 a0002c0114 a0004c0007 a0004c0047 a0005c0033 a0006c0075 a0008c0029 a0009c0014 a0010c0053 a0012c0023 a0014c0027 a0029c0036 a0041c0063	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(16): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0020t0001 a0002c0019t0002 a0002c0104t0018 a0002c0114t0002 a0004c0007t0001 a0004c0047t0001 a0005c0033t0001 a0006c0075t0002 a0008c0029t0002 a0009c0014t0002 a0009c0014t0020 a0010c0053t0002 a0012c0023t0002 a0014c0027t0001 a0029c0036t0006 a0041c0063t0002	a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0004t0001g0145 others(19): Show a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0004t0001g0145 a0001c0006t0001g0184 a0001c0020t0001g0069 a0002c0019t0002g0188 a0002c0104t0018g0156 a0002c0114t0002g0189 a0004c0007t0001g0146 a0004c0047t0001g0178 a0005c0033t0001g0170 a0006c0075t0002g0185 a0008c0029t0002g0169 a0008c0029t0002g0197 a0009c0014t0002g0195 a0009c0014t0020g0175 a0010c0053t0002g0190 a0012c0023t0002g0187 a0014c0027t0001g0116 a0014c0027t0001g0182 a0029c0036t0006g0180 a0041c0063t0002g0196	22	200	0.1100	20	c.-38 others(31): Show c.-3814_-3795dupCCTTCCTTCCTTCCTTCCTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3540		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01981.hp2 others(6): Show HG01081.hp2 HG01099.hp2 HG01981.hp2 HG02055.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 NA18979.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0008 a0022 a0037	a0001c0001 a0001c0126 a0003c0110 others(6): Show a0001c0001 a0001c0126 a0003c0110 a0004c0007 a0007c0008 a0007c0012 a0008c0060 a0022c0109 a0037c0068	a0001c0001t0001 a0001c0126t0007 a0003c0110t0002 others(6): Show a0001c0001t0001 a0001c0126t0007 a0003c0110t0002 a0004c0007t0001 a0007c0008t0002 a0007c0012t0002 a0008c0060t0002 a0022c0109t0001 a0037c0068t0001	a0001c0001t0001g0015 a0001c0126t0007g0006 a0003c0110t0002g0137 others(6): Show a0001c0001t0001g0015 a0001c0126t0007g0006 a0003c0110t0002g0137 a0004c0007t0001g0050 a0007c0008t0002g0051 a0007c0012t0002g0016 a0008c0060t0002g0017 a0022c0109t0001g0198 a0037c0068t0001g0171	9	158	0.0570	20	c.-38 others(31): Show c.-3812_-3811insCCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG01891.hp2 others(15): Show HG01243.hp2 HG01261.hp2 HG01891.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA18939.hp2 NA18954.hp2 NA18963.hp2 NA18994.hp2 NA19030.hp2 NA19043.hp2 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0001c0007 others(8): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0022 a0001c0043 a0001c0046 a0001c0048 a0001c0049 a0001c0051 a0006c0016	a0001c0002t0030 a0001c0003t0005 a0001c0003t0010 others(12): Show a0001c0002t0030 a0001c0003t0005 a0001c0003t0010 a0001c0003t0034 a0001c0003t0045 a0001c0007t0003 a0001c0012t0001 a0001c0012t0004 a0001c0022t0020 a0001c0043t0007 a0001c0046t0006 a0001c0048t0040 a0001c0049t0007 a0001c0051t0028 a0006c0016t0007	a0001c0002t0030g0120 a0001c0003t0005g0015 a0001c0003t0005g0021 others(15): Show a0001c0002t0030g0120 a0001c0003t0005g0015 a0001c0003t0005g0021 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0010g0135 a0001c0003t0034g0112 a0001c0003t0045g0008 a0001c0007t0003g0041 a0001c0012t0001g0029 a0001c0012t0004g0038 a0001c0022t0020g0002 a0001c0043t0007g0117 a0001c0046t0006g0101 a0001c0048t0040g0134 a0001c0049t0007g0111 a0001c0051t0028g0105 a0006c0016t0007g0198	18	142	0.1268	20	c.107 others(37): Show c.1071-837_1071-818dupTGTGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954879	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0096 a0001c0009t0003g0096	1	215	0.0047	20	c.107 others(37): Show c.1071-818_1071-817insTGTGTGTGTGTGTGTGAGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094442	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0017 a0001c0019t0025 a0001c0019t0017 a0001c0019t0025	a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126	3	207	0.0145	20	c.509 others(39): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0108 a0001c0003t0007g0108	1	193	0.0052	20	c.509 others(39): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2071140	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0030 a0001c0011t0030	a0001c0011t0030g0039 a0001c0011t0030g0039	1	79	0.0127	20	c.49+ others(37): Show c.49+17545_49+17564dupCCCTCCCTCCCTCCCTCCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0058 a0005c0030t0001g0058	1	23	0.0435	20	c.49+ others(37): Show c.49+17564_49+17565insCCCTCCCTCCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01106.hp1 others(9): Show HG01071.hp1 HG01071.hp2 HG01106.hp1 HG02055.hp1 HG02280.hp2 HG02451.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG06807.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0012 a0001c0031 a0003c0023	a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0004t0036 a0001c0010t0008 a0001c0012t0007 a0001c0031t0002 a0003c0023t0011	a0001c0001t0002g0001 a0001c0001t0013g0026 a0001c0002t0001g0018 others(9): Show a0001c0001t0002g0001 a0001c0001t0013g0026 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0003g0070 a0001c0004t0036g0099 a0001c0010t0008g0069 a0001c0012t0007g0057 a0001c0031t0002g0029 a0003c0023t0011g0048	12	34	0.3529	20	c.49+ others(37): Show c.49+17564_49+17565insCCCTCCCTTCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2117270	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG03098.hp1 HG02258.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0017 a0001c0018 a0001c0015 a0001c0017 a0001c0018	a0001c0015t0034 a0001c0017t0006 a0001c0018t0042 a0001c0015t0034 a0001c0017t0006 a0001c0018t0042	a0001c0015t0034g0056 a0001c0017t0006g0008 a0001c0018t0042g0083 a0001c0015t0034g0056 a0001c0017t0006g0008 a0001c0018t0042g0083	3	103	0.0291	20	c.371 others(37): Show c.371+1727_371+1746dupAATAAATAAATAAATAAATA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	2/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0085 a0001c0003t0009g0085	1	48	0.0208	20	c.477 others(39): Show c.477+57160_477+57161insCCCTCCCTTCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2186998	T T	TCCTGTCC others(13): Show TCCTGTCCTGCTGCCCCCTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG03209.hp1 others(3): Show HG02145.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0026 others(2): Show a0001c0001 a0001c0004 a0001c0026 a0002c0013 a0003c0016	a0001c0001t0004 a0001c0001t0021 a0001c0004t0004 others(3): Show a0001c0001t0004 a0001c0001t0021 a0001c0004t0004 a0001c0026t0003 a0002c0013t0016 a0003c0016t0011	a0001c0001t0004g0042 a0001c0001t0021g0060 a0001c0004t0004g0086 others(3): Show a0001c0001t0004g0042 a0001c0001t0021g0060 a0001c0004t0004g0086 a0001c0026t0003g0071 a0002c0013t0016g0017 a0003c0016t0011g0082	6	104	0.0577	20	c.477 others(39): Show c.477+66586_477+66605dupTTGCCTGTCCTGCTGCCCCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378779	G G	GTCCTTCC others(13): Show GTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0026 a0001c0001t0013g0026	1	36	0.0278	20	c.478 others(39): Show c.478-70176_478-70157dupTCCTTCCTTCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378817	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	82	0.0122	20	c.478 others(39): Show c.478-70157_478-70156insTCCTTCCTTCCTTCCTCTCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02055.hp1 NA18966.hp2 others(1): Show HG01358.hp1 HG02055.hp1 NA18966.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0002t0003 a0001c0003t0009 a0001c0004t0036 others(1): Show a0001c0002t0003 a0001c0003t0009 a0001c0004t0036 a0001c0007t0005	a0001c0002t0003g0061 a0001c0003t0009g0085 a0001c0004t0036g0099 others(1): Show a0001c0002t0003g0061 a0001c0003t0009g0085 a0001c0004t0036g0099 a0001c0007t0005g0002	4	74	0.0541	20	c.478 others(39): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2420102	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02922.hp2 others(3): Show HG01891.hp1 HG02886.hp1 HG02922.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0033 a0001c0038 a0001c0001 a0001c0033 a0001c0038	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0024 a0001c0033t0020 a0001c0038t0041	a0001c0001t0004g0042 a0001c0001t0005g0015 a0001c0001t0015g0035 others(3): Show a0001c0001t0004g0042 a0001c0001t0005g0015 a0001c0001t0015g0035 a0001c0001t0024g0079 a0001c0033t0020g0075 a0001c0038t0041g0047	6	32	0.1875	20	c.478 others(39): Show c.478-28847_478-28828dupGTGTGTGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0014 a0001c0022t0014	a0001c0022t0014g0050 a0001c0022t0014g0050	1	33	0.0303	20	c.111 others(39): Show c.1113+4598_1113+4617dupCACACACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03492.hp2 HG01496.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0027 a0001c0002 a0003c0027	a0001c0002t0001 a0003c0027t0011 a0001c0002t0001 a0003c0027t0011	a0001c0002t0001g0021 a0003c0027t0011g0012 a0001c0002t0001g0021 a0003c0027t0011g0012	2	33	0.0606	20	c.139 others(41): Show c.1391-14229_1391-14210dupAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0101 a0001c0004t0008g0101	1	14	0.0714	20	c.122 others(39): Show c.1220+8561_1220+8580dupAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53691691	G G	GATATATA others(13): Show GATATATATTACATATATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01891.hp1 HG01978.hp2 others(2): Show HG00673.hp2 HG01891.hp1 HG01978.hp2 HG02280.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0018 a0001c0002t0050 a0001c0003t0015 others(2): Show a0001c0001t0018 a0001c0002t0050 a0001c0003t0015 a0001c0003t0057 a0001c0008t0035	a0001c0001t0018g0110 a0001c0002t0050g0121 a0001c0003t0015g0022 others(2): Show a0001c0001t0018g0110 a0001c0002t0050g0121 a0001c0003t0015g0022 a0001c0003t0057g0178 a0001c0008t0035g0010	5	137	0.0365	20	c.122 others(41): Show c.1221-10903_1221-10884dupATTACATATATAATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782262	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0007 a0001c0001t0071g0007	1	175	0.0057	20	c.485 others(37): Show c.4852+596_4852+597insATATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04199.hp1 HG03579.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0032 a0001c0004t0008 a0001c0001t0032 a0001c0004t0008	a0001c0001t0032g0206 a0001c0004t0008g0048 a0001c0001t0032g0206 a0001c0004t0008g0048	2	22	0.0909	20	c.485 others(37): Show c.4852+598_4852+599insGTATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02486.hp2 others(2): Show HG01074.hp2 HG02109.hp1 HG02486.hp2 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0023	a0001c0001t0041 a0001c0002t0007 a0001c0002t0034 others(2): Show a0001c0001t0041 a0001c0002t0007 a0001c0002t0034 a0001c0007t0031 a0001c0023t0076	a0001c0001t0041g0125 a0001c0002t0007g0005 a0001c0002t0034g0197 others(2): Show a0001c0001t0041g0125 a0001c0002t0007g0005 a0001c0002t0034g0197 a0001c0007t0031g0194 a0001c0023t0076g0200	5	62	0.0806	20	c.498 others(37): Show c.4983+483_4983+502dupGTGTGTGTGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53805724	C C	CCATCTTC others(13): Show CCATCTTCCCTCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp1 HG01891.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0113 a0001c0002t0020g0126 a0001c0002t0020g0113 a0001c0002t0020g0126	2	207	0.0097	20	c.580 others(37): Show c.5809+610_5809+629dupCTCCTCCCTCATCTTCCCTC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53805917	G G	GCTCCATC others(13): Show GCTCCATCTTCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0052 a0001c0004t0002g0052	1	208	0.0048	20	c.580 others(37): Show c.5809+775_5809+776insATCTTCCCTCCTCCTCCTCC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0080 a0001c0005t0009g0080	1	62	0.0161	20	c.625 others(37): Show c.6253-346_6253-327dupAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181590412	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	199	0.0050	20	c.951 others(37): Show c.951+9637_951+9638insTATATATATATATATATATA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181590414	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0112 a0001c0001t0024g0112	1	186	0.0054	20	c.951 others(37): Show c.951+9639_951+9640insTATATATATATATATATATA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03710.hp1 HG00280.hp1 HG03710.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0023 a0003c0003t0001g0106 a0002c0002t0001g0023 a0003c0003t0001g0106	2	126	0.0159	20	c.620 others(37): Show c.6208+724_6208+743dupATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02922.hp1 HG02145.hp2 HG02717.hp1 HG02922.hp1	a0001 a0005 a0001 a0005	a0001c0010 a0001c0031 a0005c0019 a0001c0010 a0001c0031 a0005c0019	a0001c0010t0001 a0001c0031t0001 a0005c0019t0002 a0001c0010t0001 a0001c0031t0001 a0005c0019t0002	a0001c0010t0001g0071 a0001c0031t0001g0070 a0005c0019t0002g0072 a0001c0010t0001g0071 a0001c0031t0001g0070 a0005c0019t0002g0072	3	33	0.0909	20	c.242 others(37): Show c.242+2443_242+2462dupGTGTGTGTGTGTGTGTGTGT	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(13): Show TGTGTGTGTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG01169.hp1 others(17): Show HG00642.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01891.hp1 HG02647.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA18953.hp1 NA18953.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA20805.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0039 a0005c0019 a0006c0015	a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 others(10): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 a0001c0004t0004 a0001c0005t0001 a0001c0006t0001 a0001c0008t0004 a0001c0039t0004 a0005c0019t0002 a0006c0015t0001	a0001c0001t0009g0039 a0001c0002t0001g0121 a0001c0002t0004g0152 others(14): Show a0001c0001t0009g0039 a0001c0002t0001g0121 a0001c0002t0004g0152 a0001c0002t0004g0172 a0001c0002t0005g0004 a0001c0002t0005g0146 a0001c0003t0001g0002 a0001c0003t0004g0173 a0001c0004t0004g0230 a0001c0005t0001g0103 a0001c0005t0001g0167 a0001c0006t0001g0214 a0001c0008t0004g0138 a0001c0039t0004g0149 a0005c0019t0002g0064 a0005c0019t0002g0072 a0006c0015t0001g0003	20	101	0.1980	20	c.354 others(33): Show c.354+34_354+35insGTGTGTGTGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00544.hp2 others(41): Show HG00099.hp1 HG00544.hp1 HG00544.hp2 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02738.hp2 HG02970.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG04184.hp1 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18953.hp1 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19057.hp2 NA19066.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0045	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0005t0003 a0001c0005t0005 a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0012t0001 a0001c0045t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0241 a0001c0001t0004g0164 a0001c0001t0009g0039 a0001c0002t0003g0057 a0001c0002t0003g0119 a0001c0002t0004g0172 a0001c0003t0001g0133 a0001c0005t0003g0037 a0001c0005t0003g0156 a0001c0005t0003g0208 a0001c0005t0003g0231 a0001c0005t0005g0228 a0001c0006t0001g0038 a0001c0006t0001g0048 a0001c0006t0001g0178 a0001c0006t0001g0204 a0001c0006t0001g0207 a0001c0007t0001g0194 a0001c0007t0001g0239 a0001c0007t0004g0151 a0001c0012t0001g0005 a0001c0012t0001g0232 a0001c0045t0001g0030	44	108	0.4074	20	c.586 others(35): Show c.586+767_586+786dupTGTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1153035	C C	CGGCCCCG others(13): Show CGGCCCCGCCCCGGCCACGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	335	0.0030	20	c.-45 others(29): Show c.-454_-453insGGCCCCGCCCCGGCCACGCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding		70		chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTCCTTCC others(13): Show TTCCTTCCTTTCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG02083.hp1 others(1): Show HG00280.hp2 HG01099.hp2 HG02083.hp1 HG04115.hp1	a0001 a0013 a0017 a0001 a0013 a0017	a0001c0001 a0013c0037 a0017c0035 a0001c0001 a0013c0037 a0017c0035	a0001c0001t0047 a0001c0001t0048 a0013c0037t0041 others(1): Show a0001c0001t0047 a0001c0001t0048 a0013c0037t0041 a0017c0035t0044	a0001c0001t0047g0168 a0001c0001t0048g0128 a0013c0037t0041g0166 others(1): Show a0001c0001t0047g0168 a0001c0001t0048g0128 a0013c0037t0041g0166 a0017c0035t0044g0167	4	77	0.0519	20	c.-46 others(29): Show c.-464_-463insTCCTTCCTTTCTTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39586493	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02809.hp2 others(2): Show HG02109.hp2 HG02615.hp2 HG02809.hp2 NA18522.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0030 a0006c0012 a0001c0001 a0001c0030 a0006c0012	a0001c0001t0005 a0001c0001t0008 a0001c0030t0004 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0030t0004 a0006c0012t0005	a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0008g0131 others(2): Show a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0008g0131 a0001c0030t0004g0138 a0006c0012t0005g0120	5	197	0.0254	20	c.237 others(39): Show c.237-11646_237-11627dupTAAATAAATAAATAAATAAA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39596500	G G	GGGAGCAG others(13): Show GGGAGCAGGATGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0184 a0001c0002t0003g0184	1	234	0.0043	20	c.237 others(37): Show c.237-1649_237-1648insAGCAGGATGGAGAGAGATGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39620012	T T	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG01884.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0008 a0002c0013t0012 a0001c0001t0008 a0002c0013t0012	a0001c0001t0008g0139 a0002c0013t0012g0137 a0001c0001t0008g0139 a0002c0013t0012g0137	2	74	0.0270	20	c.580 others(35): Show c.580+627_580+646dupTCCATCCATCCATCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA20129.hp1 HG02055.hp1 NA20129.hp1	a0005 a0008 a0005 a0008	a0005c0094 a0008c0018 a0005c0094 a0008c0018	a0005c0094t0001 a0008c0018t0001 a0005c0094t0001 a0008c0018t0001	a0005c0094t0001g0263 a0008c0018t0001g0189 a0005c0094t0001g0263 a0008c0018t0001g0189	2	11	0.1818	20	c.40 others(31): Show c.4012_*4013insAAAAAAAAAAAAAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81951969	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	36	0.0278	20	c.316 others(39): Show c.3160-1481_3160-1462dupAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	45	0.0222	20	c.195 others(39): Show c.1955+3813_1955+3814insTATATATATATACACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81985196	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp1 HG02257.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0072 a0001c0003t0001g0011 a0001c0003t0001g0072	2	56	0.0357	20	c.179 others(37): Show c.1797-505_1797-486dupAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	21/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0088 a0001c0001t0004g0079 a0001c0001t0003g0088 a0001c0001t0004g0079	2	85	0.0235	20	c.355 others(37): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03239.hp1 HG01071.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0105 a0001c0001t0005g0096 a0001c0001t0005g0105	2	10	0.2000	20	c.295 others(39): Show c.295-10452_295-10433dupAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186230	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19057.hp2 HG02886.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0040 a0001c0001t0008g0023 a0001c0001t0004g0040 a0001c0001t0008g0023	2	127	0.0157	20	c.295 others(39): Show c.295-15622_295-15621insCTTTCTTCCTTCCTTCCTTC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186255	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	9	0.1111	20	c.295 others(39): Show c.295-15666_295-15647dupCCTTCCTTCCTTCCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(13): Show CACATACAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	133	0.0075	20	c.295 others(39): Show c.295-46782_295-46781insATATATATATATCTGTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01071.hp2 others(7): Show HG00621.hp1 HG00735.hp2 HG01071.hp2 HG02109.hp2 HG02148.hp1 HG02717.hp2 HG02970.hp1 HG03453.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0001c0003t0001	a0001c0001t0001g0038 a0001c0001t0004g0079 a0001c0001t0005g0126 others(7): Show a0001c0001t0001g0038 a0001c0001t0004g0079 a0001c0001t0005g0126 a0001c0001t0007g0015 a0001c0001t0009g0065 a0001c0001t0011g0066 a0001c0002t0001g0045 a0001c0002t0002g0128 a0001c0002t0019g0107 a0001c0003t0001g0061	10	14	0.7143	20	c.295 others(39): Show c.295-46805_295-46786dupATATATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82229686	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp1 HG01192.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0139 a0001c0002t0001g0030 a0001c0001t0005g0139 a0001c0002t0001g0030	2	69	0.0290	20	c.295 others(39): Show c.295-59097_295-59078dupTAAAATAAAATAAAATAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82320929	T T	TTATATAA others(13): Show TTATATAAAGCCATTTATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(96): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 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.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0004t0006 a0001c0006t0013 a0002c0005t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0037 others(96): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0002 a0001c0001t0004g0029 a0001c0001t0004g0042 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0111 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0136 a0001c0001t0006g0093 a0001c0001t0006g0098 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0083 a0001c0001t0009g0027 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0001t0011g0028 a0001c0001t0011g0066 a0001c0001t0012g0104 a0001c0001t0012g0127 a0001c0001t0014g0048 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0018g0135 a0001c0001t0020g0115 a0001c0001t0021g0114 a0001c0001t0022g0119 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0118 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0090 a0001c0002t0019g0107 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0004t0003g0082 a0001c0004t0006g0103 a0001c0006t0013g0069 a0002c0005t0002g0134	99	142	0.6972	20	c.294 others(39): Show c.294+14186_294+14205dupTATATAAATGGCTTTATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar

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