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
C7orf50_chr7_992006_1143247	1016909	C C	CCAGCACA others(30): Show CCAGCACACAGCAGCGCACGCCAGCACACAGCAGGACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	323	0.0031	37	c.130 others(54): Show c.130-6767_130-6766insCGTCCTGCTGTGTGCTGGCGTGCGCTGC TGTGTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031361	C C	CCAGAGAC others(30): Show CCAGAGACCTGCAGGTAGGGCAGAGTGGTCCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(14): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 NA18612.hp1 NA18944.hp2 NA18947.hp1 NA18963.hp1 NA18971.hp1 NA18984.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0028 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 others(14): Show a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0021g0088 a0001c0001t0028g0201	17	319	0.0533	37	c.130 others(56): Show c.130-21219_130-21218insCCCCCCCGGACCACTCTGCCCTACCT GCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031546	G G	GCAGAGAC others(30): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03130.hp2 HG01109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0255 a0001c0001t0020g0001 a0001c0001t0003g0255 a0001c0001t0020g0001	2	312	0.0064	37	c.130 others(56): Show c.130-21404_130-21403insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031655	C C	CGGCAGAG others(30): Show CGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG03471.hp2 HG02145.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0208 a0001c0001t0005g0251 a0001c0001t0008g0129 a0001c0001t0005g0208 a0001c0001t0005g0251 a0001c0001t0008g0129	3	236	0.0127	37	c.130 others(56): Show c.130-21549_130-21513dupCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031657	G G	GCAGAGAC others(30): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01433.hp1 others(9): Show HG00639.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG02273.hp1 HG02630.hp2 HG02922.hp2 HG03491.hp2 HG03927.hp1 NA19004.hp1 NA19054.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0009 a0001c0001t0011 a0006c0003t0011 a0001c0001t0009 a0001c0001t0011 a0006c0003t0011	a0001c0001t0009g0120 a0001c0001t0009g0125 a0001c0001t0009g0128 others(9): Show a0001c0001t0009g0120 a0001c0001t0009g0125 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0140 a0001c0001t0009g0148 a0001c0001t0011g0252 a0001c0001t0011g0306 a0001c0001t0011g0307 a0006c0003t0011g0270	12	259	0.0463	37	c.130 others(56): Show c.130-21515_130-21514insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031692	G G	GGGCAGAG others(30): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	301	0.0033	37	c.130 others(56): Show c.130-21586_130-21550dupGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031731	G G	GCAGAGAC others(30): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18972.hp1 NA19080.hp2 NA18943.hp1 NA18972.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0004g0186 a0001c0001t0004g0192 a0001c0001t0001g0029 a0001c0001t0004g0186 a0001c0001t0004g0192	3	313	0.0096	37	c.130 others(56): Show c.130-21589_130-21588insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031804	G G	GGCAGAGA others(30): Show GGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0294 a0001c0001t0005g0295	2	321	0.0062	37	c.130 others(56): Show c.130-21662_130-21661insTGCCCCGGACCACTCTGCCCTCCCTG CAGGTCTCTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(30): Show GTTTTTTTGTTTTTTTTGTTTTTGTTTTTGTTTTTGTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	63	0.0159	37	c.845 others(56): Show c.845+13607_845+13608insGTTTTTTTTGTTTTTGTTTTTGTTTT TGTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(30): Show GTTTTTTTGTTTTTTTTGTTTTTGTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19065.hp1 HG03834.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0273 a0001c0001t0006g0274 a0001c0001t0001g0273 a0001c0001t0006g0274	2	64	0.0313	37	c.845 others(56): Show c.845+13607_845+13608insGTTTTTTTTGTTTTTGTTTTTGTTTT TTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTGTTTTTGTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	63	0.0159	37	c.845 others(56): Show c.845+13616_845+13617insGTTTTTGTTTTTGTTTTTTTTTTTTT TTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0029 a0003c0004t0004g0029	1	200	0.0050	37	c.20 others(48): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413884	A A	AAGAAAAG others(30): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19065.hp1 HG03831.hp1 NA19065.hp1	a0003 a0007 a0003 a0007	a0003c0013 a0007c0008 a0003c0013 a0007c0008	a0003c0013t0002 a0007c0008t0002 a0003c0013t0002 a0007c0008t0002	a0003c0013t0002g0041 a0007c0008t0002g0051 a0003c0013t0002g0041 a0007c0008t0002g0051	2	200	0.0100	37	c.539 others(56): Show c.539+38991_539+38992insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413888	A A	AAGAAAAG others(30): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0188 a0002c0019t0002g0188	1	203	0.0049	37	c.539 others(56): Show c.539+38987_539+38988insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGAGGG others(30): Show AGGGAGGGAGGGAGGGAGGGAGGGGGGAGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02055.hp2 HG04228.hp2 HG01123.hp1 HG02055.hp2 HG04228.hp2	a0001 a0007 a0028 a0001 a0007 a0028	a0001c0004 a0007c0008 a0028c0112 a0001c0004 a0007c0008 a0028c0112	a0001c0004t0001 a0007c0008t0002 a0028c0112t0005 a0001c0004t0001 a0007c0008t0002 a0028c0112t0005	a0001c0004t0001g0043 a0007c0008t0002g0125 a0028c0112t0005g0205 a0001c0004t0001g0043 a0007c0008t0002g0125 a0028c0112t0005g0205	3	45	0.0667	37	c.-38 others(48): Show c.-3833_-3832insCCCTCCCCCCTCCCCCCTCCCTCCCTCCCTCCCT CCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3578		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138017889	T T	TGAAGTGG others(30): Show TGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0021 a0009c0028t0021	a0009c0028t0021g0156 a0009c0028t0021g0156	1	245	0.0041	37	c.226 others(56): Show c.2267+4662_2267+4698dupTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018674	C C	CCAGGTGC others(30): Show CCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0021 a0009c0028t0021	a0009c0028t0021g0156 a0009c0028t0021g0156	1	244	0.0041	37	c.226 others(56): Show c.2268-4301_2268-4300insTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138019192	C C	CCAGGTGC others(30): Show CCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0021 a0009c0028t0021	a0009c0028t0021g0156 a0009c0028t0021g0156	1	239	0.0042	37	c.226 others(56): Show c.2268-3783_2268-3782insTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138019525	C C	CCAGGTGC others(30): Show CCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02895.hp1 others(3): Show HG01891.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03486.hp1 NA18906.hp1	a0004 a0005 a0004 a0005	a0004c0040 a0004c0052 a0005c0014 others(1): Show a0004c0040 a0004c0052 a0005c0014 a0005c0026	a0004c0040t0008 a0004c0052t0008 a0005c0014t0006 others(1): Show a0004c0040t0008 a0004c0052t0008 a0005c0014t0006 a0005c0026t0006	a0004c0040t0008g0121 a0004c0052t0008g0013 a0005c0014t0006g0140 others(3): Show a0004c0040t0008g0121 a0004c0052t0008g0013 a0005c0014t0006g0140 a0005c0014t0006g0146 a0005c0014t0006g0147 a0005c0026t0006g0148	6	246	0.0244	37	c.226 others(56): Show c.2268-3450_2268-3449insTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2539542	T T	TTTCATAA others(30): Show TTTCATAAAGATGCAGGGTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0079 a0001c0001t0024g0079	1	86	0.0116	37	c.139 others(58): Show c.1391-10385_1391-10384insGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1I_chr22_39565753_39694735	39601895	C C	CTCCCTCC others(30): Show CTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	227	0.0044	37	c.482 others(54): Show c.482+1251_482+1252insTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601899	C C	CTCCCTTC others(30): Show CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(66): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0019 a0021 a0022 a0023	a0001c0001 a0001c0009 a0001c0022 others(21): Show a0001c0001 a0001c0009 a0001c0022 a0001c0030 a0001c0034 a0002c0003 a0002c0013 a0002c0019 a0003c0005 a0003c0008 a0003c0017 a0004c0004 a0004c0006 a0005c0007 a0006c0012 a0007c0010 a0009c0028 a0009c0041 a0010c0016 a0014c0039 a0019c0036 a0021c0052 a0022c0033 a0023c0038	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(41): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0036 a0001c0001t0052 a0001c0009t0002 a0001c0022t0032 a0001c0030t0004 a0001c0034t0028 a0002c0003t0001 a0002c0003t0009 a0002c0003t0012 a0002c0003t0013 a0002c0003t0025 a0002c0003t0027 a0002c0003t0049 a0002c0013t0012 a0002c0019t0001 a0003c0005t0005 a0003c0008t0006 a0003c0017t0005 a0004c0004t0018 a0004c0004t0019 a0004c0004t0034 a0004c0004t0035 a0004c0006t0024 a0005c0007t0006 a0006c0012t0004 a0006c0012t0005 a0006c0012t0008 a0007c0010t0001 a0009c0028t0004 a0009c0028t0013 a0009c0041t0001 a0010c0016t0005 a0010c0016t0015 a0010c0016t0055 a0014c0039t0001 a0019c0036t0001 a0021c0052t0011 a0022c0033t0002 a0023c0038t0001	a0001c0001t0003g0021 a0001c0001t0004g0065 a0001c0001t0005g0050 others(66): Show a0001c0001t0003g0021 a0001c0001t0004g0065 a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0125 a0001c0001t0007g0038 a0001c0001t0008g0008 a0001c0001t0008g0131 a0001c0001t0008g0139 a0001c0001t0036g0086 a0001c0001t0052g0075 a0001c0009t0002g0009 a0001c0022t0032g0030 a0001c0030t0004g0138 a0001c0034t0028g0102 a0002c0003t0001g0001 a0002c0003t0001g0017 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0046 a0002c0003t0001g0144 a0002c0003t0001g0162 a0002c0003t0009g0012 a0002c0003t0009g0014 a0002c0003t0009g0015 a0002c0003t0012g0002 a0002c0003t0013g0027 a0002c0003t0025g0028 a0002c0003t0027g0016 a0002c0003t0049g0010 a0002c0013t0012g0137 a0002c0019t0001g0029 a0002c0019t0001g0036 a0003c0005t0005g0055 a0003c0005t0005g0056 a0003c0008t0006g0084 a0003c0008t0006g0085 a0003c0017t0005g0088 a0003c0017t0005g0089 a0004c0004t0018g0003 a0004c0004t0019g0019 a0004c0004t0019g0020 a0004c0004t0034g0011 a0004c0004t0035g0023 a0004c0006t0024g0208 a0005c0007t0006g0112 a0006c0012t0004g0031 a0006c0012t0005g0120 a0006c0012t0008g0143 a0007c0010t0001g0001 a0007c0010t0001g0018 a0007c0010t0001g0026 a0007c0010t0001g0053 a0007c0010t0001g0154 a0009c0028t0004g0035 a0009c0028t0013g0052 a0009c0041t0001g0037 a0010c0016t0005g0108 a0010c0016t0015g0111 a0010c0016t0055g0109 a0014c0039t0001g0022 a0019c0036t0001g0043 a0021c0052t0011g0110 a0022c0033t0002g0077 a0023c0038t0001g0074	69	234	0.2949	37	c.482 others(54): Show c.482+1251_482+1252insTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82060150	G G	GTATTATA others(30): Show GTATTATATATATATATTATATATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0142 a0001c0001t0006g0142	1	126	0.0079	37	c.879 others(52): Show c.879+277_879+278insTATATATTATATATATATATAATATATATA TATAATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060201	T T	TAATATAT others(30): Show TAATATATATATAATATATATATAATATATATATATTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	45	0.0222	37	c.879 others(52): Show c.879+226_879+227insTAATATATATATATTATATATATATTATAT ATATATT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(30): Show CTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0036 a0001c0012t0011g0036	1	64	0.0156	37	c.139 others(56): Show c.1398+5920_1398+5921insTTTCTTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0160 a0001c0002t0055g0160	1	66	0.0152	37	c.334 others(56): Show c.334-33915_334-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0148 a0001c0002t0037g0148	1	98	0.0102	37	c.172 others(56): Show c.172-33915_172-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703763	C C	CGCTCTCT others(30): Show CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	207	0.0048	37	c.-11 others(48): Show c.-1188_-1187insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGC	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		12		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706263	T T	TCTTCTTC others(30): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0106 a0001c0001t0011g0106	1	211	0.0047	37	c.-36 others(48): Show c.-3688_-3687insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2512		chr22	TogoVar
CACNG6_chr19_53986637_54017666	53990505	T T	TTCCTCCC others(30): Show TTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	343	0.0029	37	c.-23 others(48): Show c.-2373_-2372insTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1131		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990505	T T	TTCCTCCC others(30): Show TTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(76): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18999.hp2 NA19010.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19082.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0042 a0001c0002t0003 a0001c0002t0018 a0001c0015t0003 a0002c0004t0001	a0001c0001t0002g0020 a0001c0001t0002g0221 a0001c0001t0002g0222 others(67): Show a0001c0001t0002g0020 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0317 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0128 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0184 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0225 a0001c0001t0003g0314 a0001c0001t0003g0328 a0001c0001t0003g0381 a0001c0001t0005g0001 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0180 a0001c0001t0005g0189 a0001c0001t0005g0196 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0211 a0001c0001t0005g0219 a0001c0001t0005g0223 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0010g0005 a0001c0001t0010g0181 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0010g0209 a0001c0001t0012g0213 a0001c0001t0012g0214 a0001c0001t0023g0183 a0001c0001t0027g0220 a0001c0001t0030g0001 a0001c0001t0042g0249 a0001c0002t0003g0024 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0267 a0001c0002t0018g0272 a0001c0002t0018g0273 a0001c0015t0003g0172 a0002c0004t0001g0311 a0002c0004t0001g0329 a0002c0004t0001g0330	79	421	0.1876	37	c.-23 others(48): Show c.-2373_-2372insTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGT CCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1131		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990538	G G	GCCCCTCC others(30): Show GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG06807.hp1 HG01891.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0039 a0001c0001t0028 a0001c0001t0039	a0001c0001t0028g0190 a0001c0001t0039g0035 a0001c0001t0028g0190 a0001c0001t0039g0035	2	427	0.0047	37	c.-23 others(48): Show c.-2340_-2339insCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC CAA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1098		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990600	C C	CCCAGGCC others(30): Show CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA18960.hp1 HG01981.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0041 a0001c0001t0006g0077 a0001c0001t0004g0041 a0001c0001t0006g0077	2	408	0.0049	37	c.-22 others(48): Show c.-2278_-2277insCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1036		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990679	G G	GCCCCAGC others(30): Show GCCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02896.hp2 NA18946.hp2 others(2): Show HG00140.hp2 HG02896.hp2 NA18946.hp2 NA18991.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0026	a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0005g0339 others(2): Show a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0005g0339 a0001c0001t0010g0208 a0001c0001t0026g0168	5	169	0.0296	37	c.-21 others(48): Show c.-2199_-2198insCCCCAGCACCTCCTCCTTCAGACACAGGAGTTCA GGC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		957		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990740	T T	TCAGGACC others(30): Show TCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02886.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0247 a0001c0001t0006g0114 a0001c0001t0006g0247	2	228	0.0088	37	c.-21 others(48): Show c.-2138_-2137insCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAG ACC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		896		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990740	T T	TCAGGAGC others(30): Show TCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG06807.hp1 HG01891.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0039 a0001c0001t0028 a0001c0001t0039	a0001c0001t0028g0190 a0001c0001t0039g0035 a0001c0001t0028g0190 a0001c0001t0039g0035	2	228	0.0088	37	c.-21 others(48): Show c.-2138_-2137insCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAG ACC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		896		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990869	A A	ACCCCTCC others(30): Show ACCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02922.hp1 HG01109.hp2 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0012g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0012g0096	3	144	0.0208	37	c.-20 others(48): Show c.-2009_-2008insCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC CAG	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		767		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53991080	A A	ACCCCAGC others(30): Show ACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02886.hp1 others(3): Show HG02559.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03486.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0011 others(1): Show a0001c0001 a0001c0002 a0004c0011 a0007c0010	a0001c0001t0006 a0001c0002t0002 a0004c0011t0002 others(1): Show a0001c0001t0006 a0001c0002t0002 a0004c0011t0002 a0007c0010t0006	a0001c0001t0006g0093 a0001c0001t0006g0114 a0001c0001t0006g0247 others(3): Show a0001c0001t0006g0093 a0001c0001t0006g0114 a0001c0001t0006g0247 a0001c0002t0002g0095 a0004c0011t0002g0252 a0007c0010t0006g0092	6	123	0.0488	37	c.-17 others(48): Show c.-1798_-1797insCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GGC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		556		chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	173	0.0058	37	c.545 others(52): Show c.545-745_545-744insAAAAAAAAAAAAAAAAATATATATATATAT ATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	173	0.0058	37	c.545 others(52): Show c.545-745_545-744insAAAAAAAAAAAAATATATATATATATATAT ATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	173	0.0058	37	c.545 others(52): Show c.545-745_545-744insAAAAAAAAAAATATATATATATATATATAT ATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990505	T T	TTCCTCCC others(30): Show TTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0133 a0001c0001t0137g0133	1	301	0.0033	37	c.76 others(48): Show c.7656_*7657insTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		291		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990505	T T	TTCCTCCC others(30): Show TTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(82): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02698.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18999.hp2 NA19010.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0041 a0001c0001t0042 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0079 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0107 a0001c0001t0134 a0001c0002t0011	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(67): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0170 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0098 a0001c0001t0005g0103 a0001c0001t0005g0107 a0001c0001t0005g0138 a0001c0001t0005g0221 a0001c0001t0016g0007 a0001c0001t0016g0026 a0001c0001t0016g0075 a0001c0001t0024g0009 a0001c0001t0024g0049 a0001c0001t0024g0099 a0001c0001t0025g0009 a0001c0001t0025g0116 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0028g0126 a0001c0001t0030g0180 a0001c0001t0030g0256 a0001c0001t0033g0007 a0001c0001t0033g0231 a0001c0001t0034g0026 a0001c0001t0034g0077 a0001c0001t0041g0039 a0001c0001t0041g0134 a0001c0001t0042g0150 a0001c0001t0042g0257 a0001c0001t0053g0074 a0001c0001t0055g0110 a0001c0001t0056g0004 a0001c0001t0079g0032 a0001c0001t0099g0002 a0001c0001t0100g0032 a0001c0001t0102g0004 a0001c0001t0107g0064 a0001c0001t0134g0079 a0001c0002t0011g0035	85	385	0.2208	37	c.76 others(48): Show c.7656_*7657insTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGT CCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		291		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990538	G G	GCCCCTCC others(30): Show GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp1 HG01891.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0098 a0001c0001t0091 a0001c0001t0098	a0001c0001t0091g0058 a0001c0001t0098g0259 a0001c0001t0091g0058 a0001c0001t0098g0259	2	391	0.0051	37	c.76 others(48): Show c.7689_*7690insCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC CAA	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		324		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990740	T T	TCAGGACC others(30): Show TCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02886.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0132 a0001c0001t0070 a0001c0001t0132	a0001c0001t0070g0161 a0001c0001t0132g0188 a0001c0001t0070g0161 a0001c0001t0132g0188	2	219	0.0091	37	c.78 others(48): Show c.7891_*7892insCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAG ACC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		526		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990740	T T	TCAGGAGC others(30): Show TCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp1 HG01891.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0098 a0001c0001t0091 a0001c0001t0098	a0001c0001t0091g0058 a0001c0001t0098g0259 a0001c0001t0091g0058 a0001c0001t0098g0259	2	219	0.0091	37	c.78 others(48): Show c.7891_*7892insCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAG ACC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		526		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990869	A A	ACCCCTCC others(30): Show ACCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0187 a0001c0001t0043g0187	1	132	0.0076	37	c.80 others(48): Show c.8020_*8021insCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC CAG	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		655		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991080	A A	ACCCCAGC others(30): Show ACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02886.hp1 others(3): Show HG02559.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0119 a0001c0001t0127 others(3): Show a0001c0001t0070 a0001c0001t0119 a0001c0001t0127 a0001c0001t0128 a0001c0001t0131 a0001c0001t0132	a0001c0001t0070g0161 a0001c0001t0119g0191 a0001c0001t0127g0047 others(3): Show a0001c0001t0070g0161 a0001c0001t0119g0191 a0001c0001t0127g0047 a0001c0001t0128g0189 a0001c0001t0131g0164 a0001c0001t0132g0188	6	113	0.0531	37	c.82 others(48): Show c.8231_*8232insCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GGC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		866		chr19	TogoVar
CACTIN_chr19_3605645_3631790	3631489	T T	TTCCCAGG others(30): Show TTCCCAGGGCTGGACAGACCCTCTGAGCACGCAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	406	0.0025	37	c.-47 others(48): Show c.-4764_-4728dupCTCCCTGCGTGCTCAGAGGGTCTGTCCAGCCCTG GGA	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		4700		chr19	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(30): Show ACTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	57	0.0175	37	c.125 others(56): Show c.125-43668_125-43667insAGAGAGAGAGAGAGGAGAGAGAGAGA GAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar

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