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
CAB39_chr2_230707842_230826075	230748831	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	149	0.0067	14	c.-43 others(33): Show c.-43-11104_-43-11091dupTATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773312	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19055.hp1 NA19068.hp1 NA18986.hp2 NA19055.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0028 a0001c0001t0005 a0001c0001t0007 a0001c0001t0028	a0001c0001t0005g0152 a0001c0001t0007g0140 a0001c0001t0028g0154 a0001c0001t0005g0152 a0001c0001t0007g0140 a0001c0001t0028g0154	3	302	0.0099	14	c.114 others(33): Show c.114+13198_114+13199insGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp1 NA21309.hp2 HG01256.hp2 HG02109.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019	a0001c0001t0003g0207 a0001c0001t0006g0192 a0001c0001t0019g0021 a0001c0001t0003g0207 a0001c0001t0006g0192 a0001c0001t0019g0021	3	81	0.0370	14	c.114 others(33): Show c.114+13200_114+13201insATGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG06807.hp2 HG02615.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0024 a0001c0001t0070 a0001c0005t0012 a0001c0001t0024 a0001c0001t0070 a0001c0005t0012	a0001c0001t0024g0125 a0001c0001t0070g0170 a0001c0005t0012g0179 a0001c0001t0024g0125 a0001c0001t0070g0170 a0001c0005t0012g0179	3	81	0.0370	14	c.114 others(33): Show c.114+13221_114+13234dupGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0101 a0001c0001t0013g0130 a0001c0001t0001g0101 a0001c0001t0013g0130	2	39	0.0513	14	c.628 others(27): Show c.628-50_628-37dupTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825154	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01175.hp2 others(9): Show HG00597.hp1 HG00639.hp2 HG01175.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01978.hp2 HG02109.hp1 HG02145.hp2 HG02976.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 a0001c0001t0044 a0001c0001t0049 a0001c0001t0067 a0001c0001t0069	a0001c0001t0003g0195 a0001c0001t0005g0126 a0001c0001t0005g0132 others(9): Show a0001c0001t0003g0195 a0001c0001t0005g0126 a0001c0001t0005g0132 a0001c0001t0005g0138 a0001c0001t0005g0307 a0001c0001t0013g0128 a0001c0001t0019g0021 a0001c0001t0019g0023 a0001c0001t0044g0133 a0001c0001t0049g0239 a0001c0001t0067g0206 a0001c0001t0069g0167	12	170	0.0706	14	c.64 others(25): Show c.6450_*6451insAAAAAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825704	C C	CTTTTTTT others(7): Show CTTTTTTTCTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0134 a0001c0001t0025g0134	1	332	0.0030	14	c.70 others(25): Show c.7000_*7001insTTTTTTTCTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4630		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61669020	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG03471.hp1 HG02280.hp1 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343	3	163	0.0184	14	c.61- others(29): Show c.61-3599_61-3598insAAAAAAAAAAAAAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61681049	G G	GCATTATA others(7): Show GCATTATAGAATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(68): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18949.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0310 others(63): Show a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0329 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0357 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0209 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0004g0346 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0358 a0001c0003t0002g0001 a0001c0003t0002g0301 a0001c0003t0002g0307 a0001c0003t0002g0309 a0001c0003t0002g0313 a0001c0003t0002g0315 a0001c0003t0002g0318 a0001c0003t0002g0320 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0324 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0336	71	372	0.1909	14	c.165 others(27): Show c.165-89_165-88insTAGAATTTTCATTA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011111	A A	ACGCACAC others(7): Show ACGCACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	243	0.0041	14	c.-33 others(23): Show c.-331_-330insCGCACACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		192		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011117	A A	ACGCACAC others(7): Show ACGCACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00673.hp2 others(9): Show HG00408.hp1 HG00558.hp2 HG00673.hp2 HG02015.hp2 HG03540.hp2 NA18944.hp2 NA18975.hp1 NA18986.hp1 NA18992.hp2 NA18997.hp1 NA19003.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0052 a0002c0002t0001g0167 a0002c0002t0001g0168 others(9): Show a0001c0001t0001g0052 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0177 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0216	12	87	0.1379	14	c.-32 others(23): Show c.-325_-324insCGCACACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02155.hp2 HG02922.hp1 others(3): Show HG00438.hp2 HG02155.hp2 HG02922.hp1 NA18982.hp1 NA19065.hp2 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0018	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0018t0001	a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0003t0001g0138 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0003t0001g0138 a0002c0002t0001g0171 a0002c0002t0001g0172 a0003c0018t0001g0156	6	48	0.1250	14	c.346 others(27): Show c.346-40_346-27dupGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24092687	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	60	0.0167	14	c.378 others(31): Show c.3786+869_3786+882dupGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02129.hp2 HG02572.hp1 others(19): Show HG00438.hp1 HG02129.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp2 HG04199.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18962.hp1 NA18963.hp1 NA18975.hp1 NA19003.hp1 NA19009.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0004 a0001c0009 others(3): Show a0001c0001 a0001c0004 a0001c0009 a0001c0011 a0002c0002 a0012c0033	a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0002c0002t0001 a0012c0033t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0004t0001g0193 a0001c0004t0001g0194 a0001c0004t0001g0196 a0001c0004t0001g0209 a0001c0009t0001g0161 a0001c0009t0001g0203 a0001c0009t0001g0204 a0001c0011t0001g0217 a0002c0002t0001g0164 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0001g0191 a0012c0033t0005g0198	22	120	0.1833	14	c.474 others(33): Show c.4746+2120_4746+2133dupTTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136548	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18995.hp2 NA18999.hp2 NA18967.hp2 NA18995.hp2 NA18999.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0228 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0228 a0001c0004t0001g0229 a0001c0004t0001g0230	3	266	0.0113	14	c.474 others(33): Show c.4746+2133_4746+2134insTTTTTTTTTTTTAG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36			chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0046 a0001c0001t0001 a0001c0001t0017 a0001c0001t0046	a0001c0001t0001g0271 a0001c0001t0017g0005 a0001c0001t0046g0080 a0001c0001t0001g0271 a0001c0001t0017g0005 a0001c0001t0046g0080	3	28	0.1071	14	c.846 others(33): Show c.846-13990_846-13977dupATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23174858	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0090 a0002c0002t0003g0090	1	276	0.0036	14	c.846 others(33): Show c.846-13977_846-13976insATATATATATGTAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23177418	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	46	0.0217	14	c.846 others(33): Show c.846-11397_846-11384dupACACACACACACAC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23184308	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0253 a0001c0001t0007g0253	1	161	0.0062	14	c.846 others(31): Show c.846-4509_846-4496dupGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23188543	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0077 a0001c0003t0002g0181 a0001c0003t0002g0237 a0001c0003t0002g0077 a0001c0003t0002g0181 a0001c0003t0002g0237	3	209	0.0144	14	c.846 others(29): Show c.846-285_846-272dupGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP1_chr12_120635626_120672324	120637247	G G	GTTTTTTT others(7): Show GTTTTTTTTTGTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01123.hp2 HG03688.hp2 HG00423.hp1 HG01123.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0016 a0001c0001t0001g0093 a0001c0001t0001g0094	3	191	0.0157	14	c.-34 others(25): Show c.-3439_-3438insTTTTTTTTTGTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3378		chr12	TogoVar
CABP1_chr12_120635626_120672324	120639250	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	151	0.0066	14	c.-14 others(25): Show c.-1436_-1435insTTTTTTTTTTTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		1375		chr12	TogoVar
CABP2_chr11_67513912_67528446	67527950	T T	TCTCTCAG others(7): Show TCTCTCAGACTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	14	c.-46 others(25): Show c.-4625_-4624insCAGAAGTCTGAGAG	CABP2	ENSG00000167791.14	transcript	ENST00000294288.5	protein_coding		4505		chr11	TogoVar
CABP5_chr19_48024383_48049079	48028493	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0031 a0003c0004t0004g0031	1	368	0.0027	14	c.20 others(25): Show c.2063_*2064insAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		889		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01099.hp2 others(10): Show HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01952.hp1 HG02451.hp2 HG02886.hp1 HG03195.hp2 HG03486.hp1 HG03654.hp1 HG03942.hp1 NA18970.hp2 NA18977.hp2 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0003c0004 a0007c0009	a0001c0001t0002 a0001c0001t0004 a0001c0005t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0008 a0002c0003t0003 a0003c0004t0004 a0007c0009t0002	a0001c0001t0002g0244 a0001c0001t0004g0028 a0001c0001t0004g0239 others(10): Show a0001c0001t0002g0244 a0001c0001t0004g0028 a0001c0001t0004g0239 a0001c0005t0008g0017 a0001c0005t0008g0115 a0002c0003t0003g0087 a0003c0004t0004g0007 a0003c0004t0004g0029 a0003c0004t0004g0030 a0003c0004t0004g0127 a0003c0004t0004g0128 a0003c0004t0004g0130 a0007c0009t0002g0089	13	95	0.1368	14	c.74 others(23): Show c.745_*758dupCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029828	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03041.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG03041.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0015 a0004c0007t0017 a0001c0001t0015 a0004c0007t0017	a0001c0001t0015g0091 a0001c0001t0015g0166 a0004c0007t0017g0138 others(1): Show a0001c0001t0015g0091 a0001c0001t0015g0166 a0004c0007t0017g0138 a0004c0007t0017g0141	4	367	0.0109	14	c.72 others(23): Show c.728_*729insGTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	728		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64480886	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp1 HG01192.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	156	0.0128	14	c.198 others(31): Show c.198+9957_198+9958insTTTTTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64512393	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	20	0.0500	14	c.199 others(33): Show c.199-38188_199-38175dupAAAAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02280.hp2 HG06807.hp2 HG00735.hp1 HG02280.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0009 a0001c0001t0001 a0001c0004t0009	a0001c0001t0001g0020 a0001c0004t0009g0115 a0001c0004t0009g0121 a0001c0001t0001g0020 a0001c0004t0009g0115 a0001c0004t0009g0121	3	83	0.0361	14	c.517 others(31): Show c.517+3205_517+3218dupACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606129	A A	ACACACAC others(7): Show ACACACACACACACG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	164	0.0061	14	c.517 others(31): Show c.517+3218_517+3219insACACACACACACGC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64640741	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0121 a0001c0004t0009g0121	1	3	0.3333	14	c.100 others(33): Show c.1007-1067_1007-1054dupATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13208510	C C	CGGGCGGC others(7): Show CGGGCGGCGGGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0086 a0002c0086	a0002c0086t0002 a0002c0086t0002	a0002c0086t0002g0039 a0002c0086t0002g0039	1	216	0.0046	14	c.678 others(31): Show c.6780+232_6780+245dupCCTCCCCGCCGCCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	46/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG00609.hp2 HG02040.hp2	a0001 a0006 a0001 a0006	a0001c0026 a0006c0118 a0001c0026 a0006c0118	a0001c0026t0001 a0006c0118t0002 a0001c0026t0001 a0006c0118t0002	a0001c0026t0001g0147 a0006c0118t0002g0063 a0001c0026t0001g0147 a0006c0118t0002g0063	2	73	0.0274	14	c.308 others(33): Show c.3089+4043_3089+4056dupAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp1 HG00738.hp1 HG01975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0049 a0002c0003t0002g0112 a0001c0001t0001g0049 a0002c0003t0002g0112	2	123	0.0163	14	c.166 others(33): Show c.1669-1960_1669-1959insATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320237	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01109.hp1 others(7): Show HG00140.hp1 HG01070.hp2 HG01109.hp1 HG01192.hp2 HG02129.hp2 NA18747.hp1 NA18968.hp1 NA19000.hp1 NA19030.hp2 NA20905.hp1	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0006 a0023 a0026 a0039 a0042 a0044	a0001c0006 a0001c0098 a0003c0056 others(7): Show a0001c0006 a0001c0098 a0003c0056 a0005c0066 a0006c0009 a0023c0042 a0026c0041 a0039c0057 a0042c0045 a0044c0052	a0001c0006t0001 a0001c0098t0001 a0003c0056t0002 others(7): Show a0001c0006t0001 a0001c0098t0001 a0003c0056t0002 a0005c0066t0001 a0006c0009t0002 a0023c0042t0001 a0026c0041t0001 a0039c0057t0009 a0042c0045t0001 a0044c0052t0002	a0001c0006t0001g0184 a0001c0098t0001g0101 a0003c0056t0002g0065 others(7): Show a0001c0006t0001g0184 a0001c0098t0001g0101 a0003c0056t0002g0065 a0005c0066t0001g0024 a0006c0009t0002g0032 a0023c0042t0001g0092 a0026c0041t0001g0107 a0039c0057t0009g0002 a0042c0045t0001g0173 a0044c0052t0002g0155	10	59	0.1695	14	c.134 others(33): Show c.1346-2930_1346-2917dupTCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(7): Show GGAGAGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG01496.hp1 others(9): Show HG00140.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp1 HG01981.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18948.hp1 NA18975.hp1 NA19000.hp1 NA19000.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0015 a0027 a0037 a0040 a0042	a0001c0001 a0001c0020 a0002c0003 others(8): Show a0001c0001 a0001c0020 a0002c0003 a0002c0086 a0004c0123 a0007c0008 a0015c0087 a0027c0067 a0037c0068 a0040c0119 a0042c0045	a0001c0001t0001 a0001c0020t0001 a0002c0003t0002 others(8): Show a0001c0001t0001 a0001c0020t0001 a0002c0003t0002 a0002c0086t0002 a0004c0123t0001 a0007c0008t0002 a0015c0087t0001 a0027c0067t0002 a0037c0068t0001 a0040c0119t0012 a0042c0045t0001	a0001c0001t0001g0015 a0001c0020t0001g0069 a0002c0003t0002g0167 others(9): Show a0001c0001t0001g0015 a0001c0020t0001g0069 a0002c0003t0002g0167 a0002c0086t0002g0039 a0004c0123t0001g0078 a0007c0008t0002g0027 a0007c0008t0002g0125 a0015c0087t0001g0102 a0027c0067t0002g0172 a0037c0068t0001g0171 a0040c0119t0012g0130 a0042c0045t0001g0173	12	58	0.2069	14	c.979 others(29): Show c.979-686_979-685insTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATATAT others(7): Show ATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18939.hp2 NA18964.hp1 others(1): Show HG01106.hp2 NA18939.hp2 NA18964.hp1 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0003c0015t0002 a0001c0001t0001 a0003c0015t0002	a0001c0001t0001g0117 a0001c0001t0001g0168 a0001c0001t0001g0218 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0168 a0001c0001t0001g0218 a0003c0015t0002g0166	4	191	0.0209	14	c.540 others(33): Show c.540-34731_540-34730insCATACATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG02622.hp2 HG00438.hp2 HG00735.hp2 HG02622.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0038 a0002c0104 a0004c0007 a0001c0038 a0002c0104 a0004c0007	a0001c0038t0002 a0002c0104t0018 a0004c0007t0001 a0001c0038t0002 a0002c0104t0018 a0004c0007t0001	a0001c0038t0002g0206 a0002c0104t0018g0156 a0004c0007t0001g0146 a0001c0038t0002g0206 a0002c0104t0018g0156 a0004c0007t0001g0146	3	32	0.0938	14	c.539 others(33): Show c.539+37119_539+37132dupTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954855	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0011 a0002c0024t0011	a0002c0024t0011g0160 a0002c0024t0011g0162 a0002c0024t0011g0160 a0002c0024t0011g0162	2	245	0.0082	14	c.107 others(31): Show c.1071-843_1071-842insGTGTGTGTGTGTGT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46			chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02622.hp1 others(5): Show HG01099.hp2 HG02257.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02896.hp2 HG03017.hp1 HG03688.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0013 a0002c0004 a0002c0008 others(2): Show a0001c0013 a0002c0004 a0002c0008 a0004c0041 a0006c0016	a0001c0013t0009 a0001c0013t0027 a0002c0004t0001 others(3): Show a0001c0013t0009 a0001c0013t0027 a0002c0004t0001 a0002c0008t0001 a0004c0041t0009 a0006c0016t0007	a0001c0013t0009g0196 a0001c0013t0027g0240 a0002c0004t0001g0018 others(5): Show a0001c0013t0009g0196 a0001c0013t0027g0240 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0195 a0002c0008t0001g0169 a0004c0041t0009g0078 a0006c0016t0007g0053	8	132	0.0606	14	c.107 others(31): Show c.1071-831_1071-818dupTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138052249	C C	CGTGTGGG others(7): Show CGTGTGGGCGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show HG01109.hp2 HG01884.hp1 HG02615.hp2 NA18522.hp1	a0004 a0004	a0004c0025 a0004c0029 a0004c0053 a0004c0025 a0004c0029 a0004c0053	a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 others(1): Show a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 a0004c0053t0022	a0004c0025t0013g0211 a0004c0025t0022g0011 a0004c0029t0036g0199 others(1): Show a0004c0025t0013g0211 a0004c0025t0022g0011 a0004c0029t0036g0199 a0004c0053t0022g0010	4	95	0.0421	14	c.380 others(29): Show c.3807+66_3807+67insGGCGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	25/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138052249	C C	CGTGTGTG others(7): Show CGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(126): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0010 a0015 a0016	a0001c0002 a0001c0003 a0001c0005 others(27): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0032 a0001c0039 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0002c0001 a0002c0004 a0002c0008 a0002c0010 a0002c0024 a0004c0023 a0005c0026 a0008c0050 a0010c0027 a0015c0031 a0016c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(56): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0002t0021 a0001c0002t0030 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0002 a0001c0017t0006 a0001c0017t0016 a0001c0018t0009 a0001c0018t0018 a0001c0019t0017 a0001c0019t0025 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0039t0001 a0001c0042t0005 a0001c0043t0007 a0001c0044t0016 a0001c0045t0006 a0001c0046t0006 a0001c0047t0002 a0002c0001t0001 a0002c0001t0032 a0002c0004t0001 a0002c0004t0023 a0002c0008t0001 a0002c0010t0005 a0002c0010t0010 a0002c0010t0012 a0002c0024t0011 a0004c0023t0008 a0005c0026t0006 a0008c0050t0006 a0010c0027t0024 a0015c0031t0002 a0016c0030t0003	a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 others(126): Show a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0238 a0001c0002t0002g0044 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0008g0241 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0021g0075 a0001c0002t0030g0120 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0015 a0001c0003t0005g0021 a0001c0003t0005g0109 a0001c0003t0005g0129 a0001c0003t0006g0110 a0001c0003t0006g0136 a0001c0003t0007g0107 a0001c0003t0007g0108 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0010g0133 a0001c0003t0010g0135 a0001c0003t0034g0112 a0001c0003t0043g0127 a0001c0003t0044g0009 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0027 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0086 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0093 a0001c0005t0004g0094 a0001c0005t0004g0095 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0182 a0001c0007t0001g0031 a0001c0007t0003g0026 a0001c0007t0003g0034 a0001c0007t0003g0035 a0001c0007t0003g0039 a0001c0007t0003g0041 a0001c0007t0003g0042 a0001c0007t0003g0043 a0001c0007t0003g0046 a0001c0007t0003g0055 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0012t0001g0028 a0001c0012t0001g0029 a0001c0012t0001g0050 a0001c0012t0002g0049 a0001c0012t0004g0038 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0196 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0002g0189 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0018t0009g0037 a0001c0018t0018g0030 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0072 a0001c0039t0001g0180 a0001c0042t0005g0239 a0001c0043t0007g0117 a0001c0044t0016g0106 a0001c0045t0006g0116 a0001c0046t0006g0101 a0001c0047t0002g0100 a0002c0001t0001g0166 a0002c0001t0001g0202 a0002c0001t0032g0079 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0170 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0001g0207 a0002c0004t0023g0020 a0002c0008t0001g0169 a0002c0010t0005g0181 a0002c0010t0005g0243 a0002c0010t0010g0197 a0002c0010t0012g0209 a0002c0010t0012g0215 a0002c0010t0012g0234 a0002c0024t0011g0160 a0002c0024t0011g0162 a0004c0023t0008g0077 a0005c0026t0006g0148 a0008c0050t0006g0115 a0010c0027t0024g0149 a0015c0031t0002g0113 a0016c0030t0003g0097	129	220	0.5864	14	c.380 others(29): Show c.3807+68_3807+69insCGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	25/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094442	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG02280.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0011 a0001c0002t0008 a0001c0002t0011	a0001c0002t0008g0065 a0001c0002t0011g0051 a0001c0002t0008g0065 a0001c0002t0011g0051	2	206	0.0097	14	c.509 others(33): Show c.5095-2038_5095-2025dupAAAAAAAAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2067481	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02451.hp2 HG01071.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0013g0026 a0001c0002t0003g0070 a0001c0001t0013g0026 a0001c0002t0003g0070	2	41	0.0488	14	c.49+ others(31): Show c.49+13871_49+13872insTGTGTGTGTGTGCG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120656	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0102 a0001c0006t0001g0102	1	34	0.0294	14	c.477 others(29): Show c.477+254_477+267dupGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120692	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18989.hp2 HG03195.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0001 a0001c0024t0003 a0001c0002t0001 a0001c0024t0003	a0001c0002t0001g0093 a0001c0024t0003g0072 a0001c0002t0001g0093 a0001c0024t0003g0072	2	94	0.0213	14	c.477 others(29): Show c.477+267_477+268insGTGTGTGTTTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2310352	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0002 a0001c0007t0005g0002	1	44	0.0227	14	c.478 others(35): Show c.478-138617_478-138604dupATATATATATATAT	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(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03540.hp2 others(2): Show HG03139.hp1 HG03139.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0025 others(2): Show a0001c0001 a0001c0006 a0001c0025 a0002c0013 a0004c0039	a0001c0001t0002 a0001c0006t0001 a0001c0025t0007 others(2): Show a0001c0001t0002 a0001c0006t0001 a0001c0025t0007 a0002c0013t0035 a0004c0039t0009	a0001c0001t0002g0032 a0001c0006t0001g0102 a0001c0025t0007g0014 others(2): Show a0001c0001t0002g0032 a0001c0006t0001g0102 a0001c0025t0007g0014 a0002c0013t0035g0019 a0004c0039t0009g0040	5	75	0.0667	14	c.478 others(33): Show c.478-68945_478-68932dupAAAAAAAAAAAAAA	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(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	27	0.0370	14	c.478 others(33): Show c.478-28841_478-28828dupGTGTGTGTGTGTGT	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(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG03139.hp2 others(2): Show HG02055.hp2 HG02970.hp2 HG03139.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0021	a0001c0001t0028 a0001c0003t0001 a0001c0003t0037 others(2): Show a0001c0001t0028 a0001c0003t0001 a0001c0003t0037 a0001c0006t0001 a0001c0021t0027	a0001c0001t0028g0081 a0001c0003t0001g0009 a0001c0003t0037g0003 others(2): Show a0001c0001t0028g0081 a0001c0003t0001g0009 a0001c0003t0037g0003 a0001c0006t0001g0102 a0001c0021t0027g0087	5	37	0.1351	14	c.111 others(33): Show c.1113+4604_1113+4617dupCACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar

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