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
C7orf33_chr7_148585766_148620860	148598755	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0345 a0001c0001t0001g0346	2	409	0.0049	-30	c.204 others(47): Show c.204+7628_204+7657delTATATATAGAGAGAGAGAGAGAGAGAGA GA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1016206	CCAGCACA others(23): Show CCAGCACACAGCAGCACACGCCAGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0166 a0001c0001t0008g0166	1	324	0.0031	-30	c.130 others(47): Show c.130-6093_130-6064delCTGTGTGCTGGCGTGTGCTGCTGTGTGC TG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1023624	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0003 a0003c0009t0006g0003	1	38	0.0263	-30	c.130 others(49): Show c.130-13511_130-13482delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1028882	TCCCCAGT others(23): Show TCCCCAGTCTGACTCCATGTCCCCCCATCTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18999.hp1 NA18962.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0197 a0001c0001t0004g0182 a0001c0001t0004g0197	2	324	0.0062	-30	c.130 others(49): Show c.130-18769_130-18740delGAGATGGGGGGACATGGAGTCAGACT GGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1036410	CTCGGGTG others(23): Show CTCGGGTGCTCGTGGTGTGGCCGTGTAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01074.hp2 others(12): Show HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0143 others(12): Show a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0132 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0010g0145 a0001c0001t0010g0149	15	324	0.0463	-30	c.130 others(49): Show c.130-26297_130-26268delACCCTACACGGCCACACCACGAGCAC CCGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68401629	CTTTTCTT others(23): Show CTTTTCTTCATCTCTTGAAATGGCCATTTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01071.hp1 others(81): Show HG00558.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18961.hp2 NA18983.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0004 a0002c0007 a0003c0006 a0003c0008 a0006c0015 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0014t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0007t0003 a0003c0006t0001 a0003c0006t0004 a0003c0008t0001 a0006c0015t0002 a0007c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(81): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0003g0017 a0001c0001t0003g0061 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0004g0043 a0001c0001t0004g0110 a0001c0001t0005g0111 a0001c0001t0006g0127 a0001c0001t0008g0089 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0038 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0033 a0001c0002t0002g0042 a0001c0002t0004g0049 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0002g0075 a0001c0005t0003g0079 a0001c0014t0004g0002 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0034 a0002c0003t0001g0069 a0002c0003t0001g0087 a0002c0003t0002g0009 a0002c0003t0002g0020 a0002c0003t0002g0082 a0002c0003t0002g0117 a0002c0003t0005g0040 a0002c0003t0005g0084 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0041 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0002g0121 a0002c0007t0001g0078 a0002c0007t0003g0074 a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 a0003c0008t0001g0123 a0006c0015t0002g0058 a0007c0016t0001g0007	84	126	0.6667	-30	c.328 others(49): Show c.328-37861_328-37832delATCTCTTGAAATGGCCATTTGTTTTT CTTC	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	26	0.0385	-30	c.279 others(49): Show c.279+52131_279+52160delATATATATATATATATATATATATAT ATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52120413	ACCTTATC others(23): Show ACCTTATCCTTATCCTTATCCTTATCCTTAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	48	0.0208	-30	c.61+ others(47): Show c.61+37283_61+37312delATAAGGATAAGGATAAGGATAAGGATAA GG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA13_chr8_85240458_85289073	85242632	AACATGGT others(23): Show AACATGGTGAAATCCCGTCTCTTCTAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03471.hp1 NA18522.hp2 HG02055.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	3	348	0.0086	-30	c.-31 others(41): Show c.-3196_-3167delACATGGTGAAATCCCGTCTCTTCTAAAAAT	CA13	ENSG00000185015.8	transcript	ENST00000321764.4	protein_coding		2825		chr8	TogoVar
CA6_chr1_8940868_8980092	8973712	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	307	0.0033	-30	c.845 others(45): Show c.845-908_845-879delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CABIN1_chr22_24006304_24183628	24011133	ACGCGCAC others(23): Show ACGCGCACGCGCGCACACACGCGCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18981.hp1 NA18961.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0058 a0001c0001t0001g0060	2	264	0.0076	-30	c.-30 others(39): Show c.-308_-279delCGCGCACGCGCGCACACACGCGCACACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		170		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23135487	GAGCCAGC others(23): Show GAGCCAGCGGCCAGGCGACCGGCGGGCGGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0025 a0001c0001t0026	a0001c0001t0025g0026 a0001c0001t0026g0025 a0001c0001t0025g0026 a0001c0001t0026g0025	2	276	0.0072	-30	c.-26 others(39): Show c.-267_-238delGCCAGGCGACCGGCGGGCGGCCAGCCAGCG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/10	238	INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP1_chr12_120635626_120672324	120669472	CAGGAACA others(23): Show CAGGAACACCACTCAGGATAGACTTAGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	416	0.0024	-30	c.25 others(41): Show c.2573_*2602delAGGAACACCACTCAGGATAGACTTAGGGAT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		2149		chr12	TogoVar
CACHD1_chr1_64465129_64698053	64466165	TACATACA others(23): Show TACATACACATGTATACACGTGTATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	164	0.0061	-30	c.-45 others(41): Show c.-4579_-4550delACATACACATGTATACACGTGTATATATAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3963		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64466200	ACACATGT others(23): Show ACACATGTATACACGTGTATATATACACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18962.hp2 NA19002.hp1 others(1): Show NA18955.hp2 NA18962.hp2 NA19002.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0060 a0001c0001t0005g0065 a0001c0001t0005g0077 others(1): Show a0001c0001t0001g0060 a0001c0001t0005g0065 a0001c0001t0005g0077 a0001c0001t0005g0137	4	160	0.0250	-30	c.-45 others(41): Show c.-4544_-4515delCACATGTATACACGTGTATATATACACATG	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3928		chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13346638	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03139.hp2 HG01099.hp1 HG03139.hp2	a0003 a0024 a0003 a0024	a0003c0039 a0024c0095 a0003c0039 a0024c0095	a0003c0039t0001 a0024c0095t0002 a0003c0039t0001 a0024c0095t0002	a0003c0039t0001g0074 a0024c0095t0002g0191 a0003c0039t0001g0074 a0024c0095t0002g0191	2	213	0.0094	-30	c.979 others(49): Show c.979-10759_979-10730delAATATATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346640	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18955.hp2 NA18980.hp2 others(2): Show HG01169.hp2 NA18955.hp2 NA18980.hp2 NA19000.hp2 NA19065.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0008	a0002c0003 a0003c0013 a0007c0008 others(1): Show a0002c0003 a0003c0013 a0007c0008 a0008c0011	a0002c0003t0002 a0003c0013t0002 a0007c0008t0002 others(1): Show a0002c0003t0002 a0003c0013t0002 a0007c0008t0002 a0008c0011t0002	a0002c0003t0002g0086 a0002c0003t0002g0131 a0003c0013t0002g0041 others(2): Show a0002c0003t0002g0086 a0002c0003t0002g0131 a0003c0013t0002g0041 a0007c0008t0002g0027 a0008c0011t0002g0070	5	209	0.0239	-30	c.979 others(49): Show c.979-10761_979-10732delAAAATATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346642	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp1 others(22): Show HG00099.hp2 HG00140.hp2 HG00544.hp1 HG00639.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01516.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02083.hp2 HG04184.hp2 NA18946.hp2 NA18964.hp2 NA18973.hp1 NA18977.hp2 NA18995.hp2 NA19012.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0014 a0030 a0038	a0001c0001 a0001c0005 a0001c0020 others(20): Show a0001c0001 a0001c0005 a0001c0020 a0001c0120 a0002c0003 a0002c0019 a0002c0070 a0002c0082 a0002c0086 a0003c0013 a0004c0080 a0005c0022 a0005c0024 a0007c0008 a0007c0012 a0008c0060 a0009c0051 a0009c0076 a0010c0053 a0011c0025 a0014c0089 a0030c0044 a0038c0062	a0001c0001t0001 a0001c0005t0001 a0001c0020t0001 others(20): Show a0001c0001t0001 a0001c0005t0001 a0001c0020t0001 a0001c0120t0001 a0002c0003t0002 a0002c0019t0002 a0002c0070t0002 a0002c0082t0002 a0002c0086t0002 a0003c0013t0002 a0004c0080t0001 a0005c0022t0001 a0005c0024t0002 a0007c0008t0002 a0007c0012t0002 a0008c0060t0002 a0009c0051t0002 a0009c0076t0002 a0010c0053t0002 a0011c0025t0001 a0014c0089t0001 a0030c0044t0001 a0038c0062t0002	a0001c0001t0001g0117 a0001c0005t0001g0179 a0001c0020t0001g0069 others(22): Show a0001c0001t0001g0117 a0001c0005t0001g0179 a0001c0020t0001g0069 a0001c0120t0001g0012 a0002c0003t0002g0061 a0002c0003t0002g0112 a0002c0019t0002g0009 a0002c0070t0002g0103 a0002c0082t0002g0060 a0002c0086t0002g0039 a0003c0013t0002g0064 a0004c0080t0001g0128 a0005c0022t0001g0090 a0005c0024t0002g0118 a0007c0008t0002g0097 a0007c0012t0002g0016 a0007c0012t0002g0091 a0008c0060t0002g0017 a0009c0051t0002g0177 a0009c0076t0002g0109 a0010c0053t0002g0190 a0011c0025t0001g0093 a0014c0089t0001g0144 a0030c0044t0001g0194 a0038c0062t0002g0124	25	210	0.1190	-30	c.979 others(49): Show c.979-10763_979-10734delAAAAAATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346644	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02559.hp2 HG04228.hp2 others(3): Show HG01934.hp2 HG02559.hp2 HG04228.hp2 NA18944.hp2 NA18948.hp1 NA18998.hp1	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0008 a0014	a0002c0003 a0005c0024 a0007c0008 others(2): Show a0002c0003 a0005c0024 a0007c0008 a0008c0011 a0014c0027	a0002c0003t0002 a0005c0024t0001 a0007c0008t0002 others(2): Show a0002c0003t0002 a0005c0024t0001 a0007c0008t0002 a0008c0011t0002 a0014c0027t0001	a0002c0003t0002g0167 a0005c0024t0001g0214 a0007c0008t0002g0125 others(3): Show a0002c0003t0002g0167 a0005c0024t0001g0214 a0007c0008t0002g0125 a0008c0011t0002g0134 a0014c0027t0001g0116 a0014c0027t0001g0182	6	200	0.0300	-30	c.979 others(49): Show c.979-10765_979-10736delAAAAAAAATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346646	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18977.hp1 HG03942.hp2 NA18977.hp1	a0036 a0041 a0036 a0041	a0036c0069 a0041c0063 a0036c0069 a0041c0063	a0036c0069t0004 a0041c0063t0002 a0036c0069t0004 a0041c0063t0002	a0036c0069t0004g0026 a0041c0063t0002g0196 a0036c0069t0004g0026 a0041c0063t0002g0196	2	198	0.0101	-30	c.979 others(49): Show c.979-10767_979-10738delAAAAAAAAAATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0041 a0041	a0041c0063 a0041c0063	a0041c0063t0002 a0041c0063t0002	a0041c0063t0002g0196 a0041c0063t0002g0196	1	82	0.0122	-30	c.540 others(49): Show c.540-34716_540-34687delTATATATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497511	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0028 a0028	a0028c0112 a0028c0112	a0028c0112t0005 a0028c0112t0005	a0028c0112t0005g0205 a0028c0112t0005g0205	1	213	0.0047	-30	c.293 others(47): Show c.293+8391_293+8420delATATATATATATATATATATTTTTTTTT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497515	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 HG03195.hp1 HG03195.hp2	a0001 a0018 a0001 a0018	a0001c0096 a0018c0017 a0001c0096 a0018c0017	a0001c0096t0010 a0018c0017t0004 a0001c0096t0010 a0018c0017t0004	a0001c0096t0010g0003 a0018c0017t0004g0211 a0001c0096t0010g0003 a0018c0017t0004g0211	2	208	0.0096	-30	c.293 others(47): Show c.293+8387_293+8416delATATATATATATATATATATATATTTTT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497517	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG03704.hp2 HG02622.hp2 HG02896.hp1 HG03704.hp2	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0038 a0003c0110 a0019c0092 a0001c0038 a0003c0110 a0019c0092	a0001c0038t0002 a0003c0110t0002 a0019c0092t0002 a0001c0038t0002 a0003c0110t0002 a0019c0092t0002	a0001c0038t0002g0206 a0003c0110t0002g0137 a0019c0092t0002g0203 a0001c0038t0002g0206 a0003c0110t0002g0137 a0019c0092t0002g0203	3	201	0.0149	-30	c.293 others(47): Show c.293+8385_293+8414delATATATATATATATATATATATATATTT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497521	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0011 a0003c0035t0011	a0003c0035t0011g0005 a0003c0035t0011g0005	1	168	0.0060	-30	c.293 others(47): Show c.293+8381_293+8410delATATATATATATATATATATATATATAT AT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138125983	CCGTGCTA others(23): Show CCGTGCTACCCACCCCCCCTTAAAAATCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0003 a0016c0030t0003	a0016c0030t0003g0097 a0016c0030t0003g0097	1	246	0.0041	-30	c.39 others(41): Show c.3985_*4014delCGTGCTACCCACCCCCCCTTAAAAATCCCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1365		chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2558326	GTTAGGGC others(23): Show GTTAGGGCATCCACTGCTGGAGTCCATGCCC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02896.hp2 HG02897.hp1 others(3): Show HG01106.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0036 others(1): Show a0001c0001 a0001c0007 a0001c0036 a0002c0009	a0001c0001t0004 a0001c0001t0017 a0001c0007t0006 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0007t0006 a0001c0036t0007 a0002c0009t0012	a0001c0001t0004g0006 a0001c0001t0017g0101 a0001c0007t0006g0055 others(3): Show a0001c0001t0004g0006 a0001c0001t0017g0101 a0001c0007t0006g0055 a0001c0036t0007g0100 a0002c0009t0012g0066 a0002c0009t0012g0067	6	104	0.0577	-30	c.150 others(49): Show c.1508+1381_1508+1410delTAGGGCATCCACTGCTGGAGTCCATG CCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520870	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0017 a0001c0017t0017	a0001c0017t0017g0112 a0001c0017t0017g0112	1	208	0.0048	-30	c.483 others(49): Show c.483+19158_483+19187delCTTTCTTTCTTTCTTTCTTTTCTTTT CTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0066 a0001c0001t0046g0066	1	16	0.0625	-30	c.111 others(47): Show c.1117-923_1117-894delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713494	CTGTGTGT others(23): Show CTGTGTGTATGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0032 a0001c0009t0075g0032	1	196	0.0051	-30	c.139 others(49): Show c.1391-4799_1391-4770delATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53805805	TATCTTCC others(23): Show TATCTTCCCTCCTCCTCCTCCATCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0033 a0001c0001t0070g0033	1	208	0.0048	-30	c.580 others(47): Show c.5809+660_5809+689delATCTTCCCTCCTCCTCCTCCATCTTCCC TC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48			chr3	TogoVar
CACNA1F_chrX_49200063_49238340	49229712	GGGTTCAC others(23): Show GGGTTCACGCCATTCTCCTGCCTCAGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01070.hp2 others(32): Show HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0003c0024 a0004c0005 others(1): Show a0003c0004 a0003c0024 a0004c0005 a0004c0007	a0003c0004t0001 a0003c0024t0001 a0004c0005t0001 others(1): Show a0003c0004t0001 a0003c0024t0001 a0004c0005t0001 a0004c0007t0001	a0003c0004t0001g0006 a0003c0004t0001g0040 a0003c0004t0001g0041 others(21): Show a0003c0004t0001g0006 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0024t0001g0153 a0004c0005t0001g0015 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0007t0001g0046 a0004c0007t0001g0047 a0004c0007t0001g0048 a0004c0007t0001g0049	35	288	0.1215	-30	c.817 others(45): Show c.817+478_817+507delTGAGGCTGAGGCAGGAGAATGGCGTGAACC	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	6/47			chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1157968	GCCTTGCC others(23): Show GCCTTGCCCGTGGCGCCCTTGCCCGTGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0022 a0050 a0022 a0050	a0022c0066 a0050c0128 a0022c0066 a0050c0128	a0022c0066t0023 a0050c0128t0037 a0022c0066t0023 a0050c0128t0037	a0022c0066t0023g0231 a0050c0128t0037g0013 a0022c0066t0023g0231 a0050c0128t0037g0013	2	334	0.0060	-30	c.299 others(47): Show c.299+3957_299+3986delTGGCACCCTTGCCCGTGGCGCCCTTGCC CG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03453.hp2 HG02258.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0039 a0001c0007t0001g0043 a0001c0007t0001g0067 a0001c0002t0001g0039 a0001c0007t0001g0043 a0001c0007t0001g0067	3	4	0.7500	-30	c.138 others(49): Show c.1381-5367_1381-5338delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18220110	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	81	0.0123	-30	c.213 others(49): Show c.213+69151_213+69180delTATATATATATATATATATATATATA TATA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18282056	GGCCCCCT others(23): Show GGCCCCCTGGAAGATGTACCAAAACCTTCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show HG02109.hp1 HG02145.hp1 HG02622.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0039 a0001c0002t0002 a0002c0003t0016 a0002c0003t0017	a0001c0001t0001g0058 a0001c0001t0003g0026 a0001c0001t0006g0023 others(5): Show a0001c0001t0001g0058 a0001c0001t0003g0026 a0001c0001t0006g0023 a0001c0001t0006g0174 a0001c0001t0039g0021 a0001c0002t0002g0184 a0002c0003t0016g0022 a0002c0003t0017g0110	8	200	0.0400	-30	c.214 others(51): Show c.214-119866_214-119837delCCCCCTGGAAGATGTACCAAAACC TTCCAG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18358523	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp1 HG02055.hp1 others(3): Show HG00738.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG03486.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0034 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0034 a0001c0002t0002	a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0007g0188 others(3): Show a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0034g0086 a0001c0002t0002g0004	6	200	0.0300	-30	c.214 others(49): Show c.214-43382_214-43353delCTCTCTCTCTCGCTCTCTCTCTCTCT CTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442968	ATGTGTAT others(23): Show ATGTGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(4): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01257.hp2 HG01258.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0046 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0046 a0001c0002t0002 a0001c0002t0005 a0001c0002t0057	a0001c0001t0001g0171 a0001c0001t0011g0191 a0001c0001t0011g0192 others(4): Show a0001c0001t0001g0171 a0001c0001t0011g0191 a0001c0001t0011g0192 a0001c0001t0046g0001 a0001c0002t0002g0105 a0001c0002t0005g0106 a0001c0002t0057g0155	7	200	0.0350	-30	c.333 others(49): Show c.333+40929_333+40958delGTATATATATATATGTATATATATAT GTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442986	GTATATAT others(23): Show GTATATATATATGTGTATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02040.hp1 HG02148.hp2 others(4): Show HG00642.hp2 HG02040.hp1 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0033 a0002c0003t0016	a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0004g0152 others(4): Show a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0004g0152 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0033g0069 a0002c0003t0016g0109	7	193	0.0363	-30	c.333 others(49): Show c.333+40955_333+40984delGTGTATATATATATATGTATATATAT ATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481204	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0048 a0001c0006t0048	a0001c0006t0048g0067 a0001c0006t0048g0067	1	179	0.0056	-30	c.334 others(49): Show c.334-17149_334-17120delATATATATATATATATATATATATAT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481206	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02572.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0047 a0001c0001t0008 a0001c0001t0047	a0001c0001t0008g0007 a0001c0001t0047g0195 a0001c0001t0008g0007 a0001c0001t0047g0195	2	188	0.0106	-30	c.334 others(49): Show c.334-17147_334-17118delATATATATATATATATATATATATTT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358523	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp2 others(7): Show HG00099.hp2 HG00140.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG03486.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0024 a0001c0002t0002 a0002c0003t0008 a0002c0003t0022	a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0003g0277 others(7): Show a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0024g0241 a0001c0002t0002g0288 a0002c0003t0008g0275 a0002c0003t0022g0211	10	300	0.0333	-30	c.51+ others(47): Show c.51+17565_51+17594delCTCTCTCTCTCGCTCTCTCTCTCTCTCT CT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442968	ATGTGTAT others(23): Show ATGTGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(15): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG01257.hp2 HG01258.hp1 HG02135.hp2 HG02698.hp1 HG03654.hp2 HG04184.hp2 NA18945.hp2 NA18955.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA19007.hp2 NA19080.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0054 a0001c0001t0056 a0001c0001t0060 a0001c0002t0002 a0001c0002t0004 a0001c0002t0049	a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0195 others(15): Show a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0003g0268 a0001c0001t0012g0036 a0001c0001t0012g0038 a0001c0001t0054g0032 a0001c0001t0056g0123 a0001c0001t0060g0050 a0001c0002t0002g0039 a0001c0002t0002g0045 a0001c0002t0002g0193 a0001c0002t0002g0197 a0001c0002t0004g0087 a0001c0002t0004g0135 a0001c0002t0004g0194 a0001c0002t0049g0295	18	300	0.0600	-30	c.171 others(49): Show c.171+40929_171+40958delGTATATATATATATGTATATATATAT GTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442986	GTATATAT others(23): Show GTATATATATATGTGTATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02040.hp2 others(4): Show HG00639.hp2 HG00642.hp1 HG02040.hp2 HG02148.hp1 HG02886.hp2 HG02895.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0002t0002 a0002c0003t0017	a0001c0001t0001g0297 a0001c0001t0003g0051 a0001c0001t0003g0269 others(4): Show a0001c0001t0001g0297 a0001c0001t0003g0051 a0001c0001t0003g0269 a0001c0001t0030g0071 a0001c0002t0002g0270 a0001c0002t0002g0271 a0002c0003t0017g0189	7	289	0.0242	-30	c.171 others(49): Show c.171+40955_171+40984delGTGTATATATATATATGTATATATAT ATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481204	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0064 a0001c0008t0064	a0001c0008t0064g0066 a0001c0008t0064g0066	1	271	0.0037	-30	c.172 others(49): Show c.172-17149_172-17120delATATATATATATATATATATATATAT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481206	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02572.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0057 a0001c0001t0007 a0001c0001t0057	a0001c0001t0007g0179 a0001c0001t0057g0180 a0001c0001t0007g0179 a0001c0001t0057g0180	2	284	0.0070	-30	c.172 others(49): Show c.172-17147_172-17118delATATATATATATATATATATATATTT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	152092402	ATTCTAGT others(23): Show ATTCTAGTATCAACCTAAAAATCTGAATGTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	230	0.0043	-30	c.147 others(47): Show c.147+5898_147+5927delAACATTCAGATTTTTAGGTTGATACTAG AA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36609657	GCCCCCCA others(23): Show GCCCCCCAGAGCGTGATCGGGCAGGAATCAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(16): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG06807.hp1 HG06807.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0055 a0001c0001t0064 a0001c0001t0076 a0001c0001t0089 a0001c0001t0096	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0034 others(16): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0008g0151 a0001c0001t0011g0103 a0001c0001t0018g0027 a0001c0001t0018g0035 a0001c0001t0020g0102 a0001c0001t0020g0104 a0001c0001t0049g0096 a0001c0001t0050g0095 a0001c0001t0053g0098 a0001c0001t0055g0105 a0001c0001t0064g0117 a0001c0001t0076g0141 a0001c0001t0089g0189 a0001c0001t0096g0196	19	114	0.1667	-30	c.212 others(49): Show c.212-22139_212-22110delTTGATTCCTGCCCGATCACGCTCTGG GGGG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG4_chr17_66959707_67038398	66968623	CCCTCCTC others(23): Show CCCTCCTCCTCTCCCTCCTCTCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02572.hp1 others(10): Show HG01109.hp2 HG01884.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021	a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 others(9): Show a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0014g0012 a0001c0001t0019g0237 a0001c0001t0020g0236 a0001c0001t0021g0233	13	350	0.0371	-30	c.220 others(47): Show c.220+3500_220+3529delCTCTCCCTCCTCTCCCCTCCCCTCCTCC TC	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66862352	CCAATCCA others(23): Show CCAATCCAGCTTGTGTCACTTACAAGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(124): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03239.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0050 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0067 a0001c0001t0078 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0102 a0001c0001t0111 a0001c0002t0006 a0001c0004t0011 a0003c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(109): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0002g0001 a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0190 a0001c0001t0002g0271 a0001c0001t0002g0320 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0191 a0001c0001t0003g0226 a0001c0001t0004g0023 a0001c0001t0004g0036 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0004g0143 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0178 a0001c0001t0004g0197 a0001c0001t0005g0002 a0001c0001t0005g0160 a0001c0001t0005g0248 a0001c0001t0006g0005 a0001c0001t0006g0161 a0001c0001t0006g0164 a0001c0001t0006g0179 a0001c0001t0006g0233 a0001c0001t0006g0237 a0001c0001t0007g0003 a0001c0001t0007g0015 a0001c0001t0007g0128 a0001c0001t0007g0156 a0001c0001t0010g0200 a0001c0001t0012g0250 a0001c0001t0014g0104 a0001c0001t0014g0106 a0001c0001t0015g0149 a0001c0001t0016g0008 a0001c0001t0016g0083 a0001c0001t0020g0014 a0001c0001t0020g0100 a0001c0001t0021g0120 a0001c0001t0023g0174 a0001c0001t0023g0175 a0001c0001t0023g0180 a0001c0001t0030g0154 a0001c0001t0030g0243 a0001c0001t0031g0172 a0001c0001t0031g0257 a0001c0001t0032g0099 a0001c0001t0032g0173 a0001c0001t0033g0151 a0001c0001t0033g0239 a0001c0001t0034g0001 a0001c0001t0037g0005 a0001c0001t0041g0146 a0001c0001t0041g0182 a0001c0001t0044g0229 a0001c0001t0047g0144 a0001c0001t0050g0002 a0001c0001t0058g0003 a0001c0001t0059g0247 a0001c0001t0062g0159 a0001c0001t0067g0196 a0001c0001t0078g0046 a0001c0001t0091g0251 a0001c0001t0093g0169 a0001c0001t0094g0216 a0001c0001t0095g0306 a0001c0001t0096g0275 a0001c0001t0102g0147 a0001c0001t0111g0133 a0001c0002t0006g0234 a0001c0004t0011g0228 a0003c0008t0001g0052	127	370	0.3432	-30	c.-10 others(51): Show c.-103-14852_-103-14823delTGTCACAATCCAGCTTGTGTCACT TACAAG	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar

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