Joint Open Genome and Omics Platform (JoGo)

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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
CA5A_chr16_87883013_87941529	87937802	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03516.hp1 HG02976.hp1 HG03098.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0002c0005t0003 a0001c0001t0001 a0001c0001t0003 a0002c0005t0003	a0001c0001t0001g0361 a0001c0001t0003g0383 a0002c0005t0003g0021 a0001c0001t0001g0361 a0001c0001t0003g0383 a0002c0005t0003g0021	3	394	0.0076	17	c.-13 others(28): Show c.-1353_-1352insGAAAGAAAGAAAGAAAG	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1274		chr16	TogoVar
CA5A_chr16_87883013_87941529	87939963	C C	CGATAGAT others(10): Show CGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	185	0.0054	17	c.-35 others(28): Show c.-3514_-3513insCTATCTATCTATCTATC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		3435		chr16	TogoVar
CA6_chr1_8940868_8980092	8959931	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02559.hp2 others(4): Show HG01884.hp1 HG02257.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG03098.hp2 HG03130.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0007 a0005c0022 a0006c0012 a0004c0007 a0005c0022 a0006c0012	a0004c0007t0001 a0004c0007t0003 a0005c0022t0001 others(1): Show a0004c0007t0001 a0004c0007t0003 a0005c0022t0001 a0006c0012t0001	a0004c0007t0001g0297 a0004c0007t0001g0378 a0004c0007t0003g0210 others(4): Show a0004c0007t0001g0297 a0004c0007t0001g0378 a0004c0007t0003g0210 a0005c0022t0001g0042 a0006c0012t0001g0309 a0006c0012t0001g0310 a0006c0012t0001g0311	7	213	0.0329	17	c.501 others(32): Show c.501+932_501+948dupAAAAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAAP1_chr9_26835685_26897802	26872573	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0033	1	369	0.0027	17	c.666 others(36): Show c.666-11435_666-11434insTATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(10): Show TATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01978.hp2 others(7): Show HG01243.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp2 HG02145.hp1 HG02683.hp1 HG03017.hp1 HG03540.hp1 HG03688.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0189 a0001c0001t0001g0296 a0001c0001t0003g0015 others(7): Show a0001c0001t0001g0189 a0001c0001t0001g0296 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0004g0206 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0002t0001g0046 a0001c0002t0001g0073 a0001c0004t0004g0064	10	176	0.0568	17	c.565 others(34): Show c.565-1883_565-1882insGATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49442787	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0299 a0001c0001t0004g0299	1	50	0.0200	17	c.-24 others(36): Show c.-246+1182_-246+1198dupTTTTTTTTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0155 a0001c0001t0059g0155	1	250	0.0040	17	c.-43 others(36): Show c.-43-11130_-43-11129insTATATATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	149	0.0067	17	c.-43 others(36): Show c.-43-11127_-43-11126insAAAAAAAAAAAAAAATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	149	0.0067	17	c.-43 others(36): Show c.-43-11127_-43-11126insAAAAATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0254 a0001c0001t0034g0305 a0001c0001t0004g0254 a0001c0001t0034g0305	2	150	0.0133	17	c.-43 others(36): Show c.-43-11128_-43-11127insTATATATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18966.hp2 NA18972.hp1 others(8): Show NA18952.hp1 NA18966.hp2 NA18972.hp1 NA18973.hp1 NA18998.hp2 NA19007.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016	a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0213 others(8): Show a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0234 a0001c0001t0006g0226 a0001c0001t0016g0185	11	256	0.0430	17	c.115 others(34): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230804303	G G	GCCAACTA others(10): Show GCCAACTAGCATCCCAAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	340	0.0029	17	c.567 others(34): Show c.567+5406_567+5407insCCAACTAGCATCCCAAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	5/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230825712	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA19080.hp2 NA18995.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0228 a0001c0001t0003g0224 a0001c0001t0003g0228	2	249	0.0080	17	c.70 others(28): Show c.7008_*7009insTTTTTTTTTTTTTTCTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4638		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825712	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18994.hp1 NA19084.hp1 NA18992.hp1 NA18994.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0215 a0001c0001t0016g0165 a0001c0001t0016g0184 a0001c0001t0003g0215 a0001c0001t0016g0165 a0001c0001t0016g0184	3	250	0.0120	17	c.70 others(28): Show c.7008_*7009insTTTTTTTTTTTTTTTCT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4638		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61669020	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02273.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp2 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04204.hp2 NA18941.hp2 NA18944.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18986.hp1 NA18997.hp1 NA19000.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(46): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0303 a0001c0003t0002g0301	52	212	0.2453	17	c.61- others(32): Show c.61-3599_61-3598insAAAAAAAAAAAAAAAAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61679329	C C	CTATATCT others(10): Show CTATATCTAATCTATCTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02896.hp2 others(2): Show HG02486.hp1 HG02647.hp2 HG02896.hp2 HG03098.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0296 a0001c0001t0003g0295 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0296 a0001c0001t0003g0295 a0001c0001t0007g0262 a0001c0002t0002g0029	5	156	0.0321	17	c.165 others(34): Show c.165-1811_165-1810insATCTAATCTATCTATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61680645	A A	ACATATAA others(10): Show ACATATAATATATATTTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	372	0.0027	17	c.165 others(32): Show c.165-498_165-497insCATATAATATATATTTG	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7			chr10	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03579.hp2 HG02027.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0008 a0001c0004t0001g0160 a0001c0001t0001g0008 a0001c0004t0001g0160	2	100	0.0200	17	c.474 others(36): Show c.4746+2117_4746+2133dupTTTTTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABP5_chr19_48024383_48049079	48029837	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0032 a0003c0004t0004g0032	1	365	0.0027	17	c.71 others(26): Show c.719_*720insCTCTCTCTCTCTCTCTC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	719		chr19	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(10): Show AGGGCGGGGGGGCGGCGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp1 HG01261.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0027 a0001c0001t0010g0027 a0001c0001t0002g0027 a0001c0001t0010g0027	2	335	0.0060	17	c.121 others(32): Show c.121+282_121+298dupGGCGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GGTTTTTT others(10): Show GGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0123 a0001c0008t0006g0123	1	57	0.0175	17	c.348 others(34): Show c.3484+206_3484+207insGTTTTTTTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0016 a0016	a0016c0127 a0016c0127	a0016c0127t0001 a0016c0127t0001	a0016c0127t0001g0007 a0016c0127t0001g0007	1	72	0.0139	17	c.308 others(36): Show c.3089+4040_3089+4056dupAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310473	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0117 a0002c0117	a0002c0117t0001 a0002c0117t0001	a0002c0117t0001g0072 a0002c0117t0001g0072	1	213	0.0047	17	c.166 others(36): Show c.1669-1946_1669-1945insATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02602.hp2 HG02809.hp2 others(1): Show HG00639.hp1 HG02602.hp2 HG02809.hp2 NA20905.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0098 a0003c0013 a0003c0094 others(1): Show a0001c0098 a0003c0013 a0003c0094 a0013c0048	a0001c0098t0001 a0003c0013t0002 a0003c0094t0002 others(1): Show a0001c0098t0001 a0003c0013t0002 a0003c0094t0002 a0013c0048t0001	a0001c0098t0001g0101 a0003c0013t0002g0064 a0003c0094t0002g0208 others(1): Show a0001c0098t0001g0101 a0003c0013t0002g0064 a0003c0094t0002g0208 a0013c0048t0001g0140	4	165	0.0242	17	c.166 others(36): Show c.1669-1958_1669-1957insATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02723.hp2 NA19030.hp2 HG00735.hp1 HG02723.hp2 NA19030.hp2	a0001 a0044 a0001 a0044	a0001c0020 a0001c0071 a0044c0052 a0001c0020 a0001c0071 a0044c0052	a0001c0020t0001 a0001c0071t0003 a0044c0052t0002 a0001c0020t0001 a0001c0071t0003 a0044c0052t0002	a0001c0020t0001g0186 a0001c0071t0003g0138 a0044c0052t0002g0155 a0001c0020t0001g0186 a0001c0071t0003g0138 a0044c0052t0002g0155	3	124	0.0242	17	c.166 others(36): Show c.1669-1960_1669-1959insATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0086 a0002c0086	a0002c0086t0002 a0002c0086t0002	a0002c0086t0002g0039 a0002c0086t0002g0039	1	80	0.0125	17	c.166 others(36): Show c.1669-1962_1669-1961insATATATATATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0001 a0001c0120t0001	a0001c0120t0001g0012 a0001c0120t0001g0012	1	80	0.0125	17	c.166 others(36): Show c.1669-1962_1669-1961insATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320275	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0043 a0011c0043	a0011c0043t0001 a0011c0043t0001	a0011c0043t0001g0036 a0011c0043t0001g0036	1	209	0.0048	17	c.134 others(36): Show c.1346-2955_1346-2954insCTCTCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336640	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0013 a0001c0049t0001g0013	1	211	0.0047	17	c.979 others(32): Show c.979-732_979-731insCTCTCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413884	A A	AAGAAAAG others(10): Show AAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0016 a0016	a0016c0040 a0016c0127 a0016c0040 a0016c0127	a0016c0040t0001 a0016c0127t0001 a0016c0040t0001 a0016c0127t0001	a0016c0040t0001g0008 a0016c0127t0001g0007 a0016c0040t0001g0008 a0016c0127t0001g0007	2	200	0.0100	17	c.539 others(36): Show c.539+38991_539+38992insCTTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02083.hp1 HG02683.hp1 others(5): Show HG01106.hp2 HG02083.hp1 HG02683.hp1 HG04228.hp1 NA18939.hp2 NA18980.hp1 NA19012.hp1 NA19079.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0029	a0001c0001 a0001c0006 a0002c0010 others(2): Show a0001c0001 a0001c0006 a0002c0010 a0006c0100 a0029c0036	a0001c0001t0001 a0001c0006t0001 a0002c0010t0002 others(2): Show a0001c0001t0001 a0001c0006t0001 a0002c0010t0002 a0006c0100t0006 a0029c0036t0006	a0001c0001t0001g0117 a0001c0001t0001g0168 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0117 a0001c0001t0001g0168 a0001c0001t0001g0218 a0001c0006t0001g0033 a0001c0006t0001g0133 a0002c0010t0002g0029 a0006c0100t0006g0037 a0029c0036t0006g0180	8	23	0.3478	17	c.539 others(36): Show c.539+19399_539+19415dupTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0105 a0003c0105	a0003c0105t0006 a0003c0105t0006	a0003c0105t0006g0143 a0003c0105t0006g0143	1	105	0.0095	17	c.294 others(34): Show c.294-9348_294-9332dupAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02451.hp2 HG03471.hp2 HG02040.hp1 HG02451.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0015 a0001c0003t0002 a0001c0001t0013 a0001c0001t0015 a0001c0003t0002	a0001c0001t0013g0026 a0001c0001t0015g0035 a0001c0003t0002g0020 a0001c0001t0013g0026 a0001c0001t0015g0035 a0001c0003t0002g0020	3	73	0.0411	17	c.478 others(36): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0016	1	32	0.0313	17	c.139 others(38): Show c.1391-14226_1391-14210dupAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2572547	C C	CCCTCCTC others(10): Show CCCTCCTCCTTCTCCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0081 a0001c0001t0028g0081	1	93	0.0108	17	c.189 others(36): Show c.1895+4805_1895+4821dupCCTCCTCCTTCTCCTCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02040.hp1 HG02129.hp2 others(1): Show HG01070.hp1 HG02040.hp1 HG02129.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 a0001c0002 a0001c0006 a0001c0008	a0001c0002t0009 a0001c0006t0002 a0001c0008t0009 a0001c0002t0009 a0001c0006t0002 a0001c0008t0009	a0001c0002t0009g0107 a0001c0006t0002g0072 a0001c0006t0002g0100 others(1): Show a0001c0002t0009g0107 a0001c0006t0002g0072 a0001c0006t0002g0100 a0001c0008t0009g0076	4	65	0.0615	17	c.625 others(34): Show c.6253-343_6253-327dupAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181590414	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0029 a0002c0002t0037 a0002c0002t0010 a0002c0002t0029 a0002c0002t0037	a0002c0002t0010g0024 a0002c0002t0029g0063 a0002c0002t0037g0128 a0002c0002t0010g0024 a0002c0002t0029g0063 a0002c0002t0037g0128	3	188	0.0160	17	c.951 others(34): Show c.951+9638_951+9639insTATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181590416	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0175 a0002c0002t0026g0175	1	114	0.0088	17	c.951 others(34): Show c.951+9640_951+9641insTATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181803270	G G	GATGCAGG others(10): Show GATGCAGGAAAGAAGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01069.hp2 others(39): Show HG00438.hp2 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp1 HG03831.hp1 NA18906.hp1 NA18977.hp2 NA18983.hp2 NA19043.hp2 NA19057.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0002c0002 a0003c0003 a0005c0013	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(28): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0033 a0001c0001t0048 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0004t0008 a0001c0004t0010 a0001c0004t0036 a0001c0005t0018 a0001c0008t0008 a0001c0008t0051 a0001c0009t0018 a0001c0012t0029 a0001c0015t0047 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0020 a0002c0002t0029 a0002c0002t0035 a0002c0002t0049 a0002c0002t0050 a0003c0003t0010 a0003c0003t0072 a0005c0013t0020	a0001c0001t0008g0179 a0001c0001t0009g0049 a0001c0001t0009g0085 others(39): Show a0001c0001t0008g0179 a0001c0001t0009g0049 a0001c0001t0009g0085 a0001c0001t0009g0132 a0001c0001t0009g0135 a0001c0001t0010g0028 a0001c0001t0013g0105 a0001c0001t0013g0187 a0001c0001t0017g0045 a0001c0001t0017g0046 a0001c0001t0019g0034 a0001c0001t0019g0052 a0001c0001t0033g0088 a0001c0001t0048g0054 a0001c0001t0070g0037 a0001c0001t0073g0114 a0001c0001t0074g0109 a0001c0004t0008g0032 a0001c0004t0008g0122 a0001c0004t0010g0067 a0001c0004t0036g0062 a0001c0005t0018g0061 a0001c0008t0008g0030 a0001c0008t0008g0039 a0001c0008t0008g0164 a0001c0008t0051g0165 a0001c0009t0018g0041 a0001c0012t0029g0163 a0001c0015t0047g0027 a0002c0002t0010g0024 a0002c0002t0013g0162 a0002c0002t0015g0017 a0002c0002t0015g0048 a0002c0002t0015g0108 a0002c0002t0020g0129 a0002c0002t0029g0063 a0002c0002t0035g0145 a0002c0002t0049g0169 a0002c0002t0050g0197 a0003c0003t0010g0127 a0003c0003t0072g0066 a0005c0013t0020g0194	42	204	0.2059	17	c.44 others(28): Show c.4436_*4437insATGCAGGAAAGAAGGAA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	48/48	4437		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG03098.hp1 others(2): Show HG02145.hp1 HG02615.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp2	a0005 a0008 a0026 a0005 a0008 a0026	a0005c0022 a0005c0046 a0008c0018 others(1): Show a0005c0022 a0005c0046 a0008c0018 a0026c0060	a0005c0022t0001 a0005c0046t0001 a0008c0018t0001 others(1): Show a0005c0022t0001 a0005c0046t0001 a0008c0018t0001 a0026c0060t0001	a0005c0022t0001g0260 a0005c0046t0001g0255 a0008c0018t0001g0165 others(2): Show a0005c0022t0001g0260 a0005c0046t0001g0255 a0008c0018t0001g0165 a0008c0018t0001g0174 a0026c0060t0001g0175	5	14	0.3571	17	c.40 others(28): Show c.4012_*4013insAAAAAAAAAAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81951969	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0025 a0001c0004t0008g0025	1	36	0.0278	17	c.316 others(36): Show c.3160-1478_3160-1462dupAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81951976	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	141	0.0071	17	c.316 others(36): Show c.3160-1469_3160-1468insCAAAACAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG02148.hp1 others(2): Show HG00621.hp2 HG01123.hp1 HG02148.hp1 HG02698.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0004g0079 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0004g0079 a0001c0001t0006g0093 a0001c0002t0001g0045	5	44	0.1136	17	c.355 others(34): Show c.355-1048_355-1032dupTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82172640	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	125	0.0080	17	c.295 others(34): Show c.295-2032_295-2031insGAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp1 NA18522.hp2 HG01069.hp2 HG01261.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0015 a0001c0004t0003 a0001c0001t0005 a0001c0001t0015 a0001c0004t0003	a0001c0001t0005g0106 a0001c0001t0015g0006 a0001c0004t0003g0082 a0001c0001t0005g0106 a0001c0001t0015g0006 a0001c0004t0003g0082	3	11	0.2727	17	c.295 others(36): Show c.295-10449_295-10433dupAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82185479	G G	GGGGGAGG others(10): Show GGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp2 others(40): Show HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01975.hp1 HG01975.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02895.hp2 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG04115.hp2 HG06807.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18986.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0004t0006 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0079 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0139 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0125 a0001c0001t0007g0060 a0001c0001t0012g0104 a0001c0001t0012g0127 a0001c0001t0017g0091 a0001c0001t0018g0135 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0002g0109 a0001c0002t0002g0122 a0001c0002t0010g0092 a0001c0003t0001g0011 a0001c0004t0006g0103 a0002c0005t0002g0134	43	140	0.3071	17	c.295 others(36): Show c.295-14887_295-14871dupTCCCCCTCCTCCTCCCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	43	0.0233	17	c.95+ others(34): Show c.95+11311_95+11327dupTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50363467	T T	TGTGTGTG others(10): Show TGTGTGTGTGCACAGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02735.hp1 HG02735.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18986.hp1 NA18999.hp2 NA19007.hp2 NA19012.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0006c0006t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(52): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0101 a0001c0001t0002g0120 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0215 a0001c0001t0002g0229 a0001c0001t0007g0011 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0023 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0016g0020 a0001c0001t0018g0077 a0001c0001t0028g0072 a0001c0001t0029g0059 a0006c0006t0002g0192	55	232	0.2371	17	c.11 others(28): Show c.1198_*1199insGCTCTGTGCACACACAC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	38/38	1198		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54122471	G G	GCCTCCCT others(10): Show GCCTCCCTCCCCACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0037 a0001c0003t0001g0038 a0001c0001t0001g0037 a0001c0003t0001g0038	2	107	0.0187	17	c.-24 others(26): Show c.-243_-242insCCTCCCTCCCCACCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding		80		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG01884.hp2 others(2): Show HG00639.hp2 HG01169.hp1 HG01884.hp2 HG01934.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 others(1): Show a0001c0001 a0001c0003 a0001c0018 a0001c0028	a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 a0001c0028t0001	a0001c0001t0001g0046 a0001c0001t0001g0090 a0001c0003t0001g0084 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0090 a0001c0003t0001g0084 a0001c0018t0001g0076 a0001c0028t0001g0089	5	20	0.2500	17	c.204 others(36): Show c.204+47548_204+47564dupTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar

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