Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03942.hp2 HG01169.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0020 a0001c0004 a0002c0020	a0001c0004t0002 a0002c0020t0004 a0001c0004t0002 a0002c0020t0004	a0001c0004t0002g0050 a0002c0020t0004g0182 a0001c0004t0002g0050 a0002c0020t0004g0182	2	22	0.0909	22	c.485 others(39): Show c.4852+598_4852+599insGTATATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02145.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0066 a0001c0002t0006 a0001c0001t0066 a0001c0002t0006	a0001c0001t0066g0045 a0001c0002t0006g0180 a0001c0001t0066g0045 a0001c0002t0006g0180	2	22	0.0909	22	c.485 others(39): Show c.4852+598_4852+599insGTGTATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0031 a0001c0007t0031	a0001c0007t0031g0187 a0001c0007t0031g0187	1	58	0.0172	22	c.498 others(39): Show c.4983+481_4983+502dupGTGTGTGTGTGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181596557	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0125 a0002c0002t0014g0125	1	14	0.0714	22	c.951 others(41): Show c.951+15800_951+15821dupGTGTGTGTGTGTGTGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181759395	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0020 a0005c0013t0020	a0005c0013t0020g0194 a0005c0013t0020g0194	1	68	0.0147	22	c.460 others(39): Show c.4605+537_4605+558dupGTGTGTGTGTGTGTGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	32/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0171 a0004c0007t0001g0171	1	125	0.0080	22	c.620 others(39): Show c.6208+743_6208+744insATATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01884.hp1 others(3): Show HG00738.hp2 HG00741.hp2 HG01884.hp1 HG02615.hp2 HG03239.hp1 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 a0001c0002 a0001c0005 a0001c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0005 a0001c0008t0004 a0001c0008t0010	a0001c0002t0001g0006 a0001c0002t0003g0129 a0001c0002t0004g0174 others(3): Show a0001c0002t0001g0006 a0001c0002t0003g0129 a0001c0002t0004g0174 a0001c0005t0005g0228 a0001c0008t0004g0229 a0001c0008t0010g0213	6	87	0.0690	22	c.354 others(35): Show c.354+34_354+35insGTGTGTGTGTGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG01081.hp1 others(9): Show HG00408.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG02976.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18954.hp2 NA19030.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0001c0028	a0001c0001t0001 a0001c0002t0004 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0008 a0001c0007t0001 a0001c0008t0001 a0001c0008t0004 a0001c0011t0004 a0001c0028t0001	a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0195 others(9): Show a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0195 a0001c0002t0004g0152 a0001c0003t0001g0096 a0001c0003t0008g0226 a0001c0007t0001g0141 a0001c0007t0001g0175 a0001c0008t0001g0035 a0001c0008t0004g0138 a0001c0011t0004g0143 a0001c0028t0001g0196	12	76	0.1579	22	c.586 others(37): Show c.586+765_586+786dupTGTGTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50582669	A A	ACGCAGGA others(15): Show ACGCAGGAGTGGGGCCTTGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG03540.hp2 HG01891.hp2 HG02717.hp1 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0040 a0001c0010 a0001c0040	a0001c0010t0001 a0001c0040t0002 a0001c0010t0001 a0001c0040t0002	a0001c0010t0001g0071 a0001c0010t0001g0113 a0001c0040t0002g0095 a0001c0010t0001g0071 a0001c0010t0001g0113 a0001c0040t0002g0095	3	244	0.0123	22	c.230 others(41): Show c.2301+4106_2301+4107insGCAGGAGTGGGGCCTTGGAGGC	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39596464	C C	CGGAGGGA others(15): Show CGGAGGGAGATGGGGGGCAGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02630.hp2 others(3): Show HG01884.hp1 HG01891.hp2 HG02630.hp2 HG02895.hp1 HG03225.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0022 a0001c0026 a0001c0027 others(1): Show a0001c0022 a0001c0026 a0001c0027 a0003c0005	a0001c0022t0010 a0001c0026t0051 a0001c0027t0015 others(2): Show a0001c0022t0010 a0001c0026t0051 a0001c0027t0015 a0003c0005t0005 a0003c0005t0008	a0001c0022t0010g0004 a0001c0026t0051g0169 a0001c0027t0015g0136 others(3): Show a0001c0022t0010g0004 a0001c0026t0051g0169 a0001c0027t0015g0136 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0171	6	233	0.0258	22	c.237 others(39): Show c.237-1683_237-1682insGGAGATGGGGGGCAGGGTGGAG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03195.hp1 HG01192.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0139 a0001c0002t0001g0014 a0001c0001t0005g0139 a0001c0002t0001g0014	2	23	0.0870	22	c.879 others(39): Show c.879+4497_879+4498insTATATATATATATATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060190	T T	TTATATAT others(15): Show TTATATATAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	32	0.0313	22	c.879 others(37): Show c.879+237_879+238insTTATATATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82081848	G G	GGTGGGAG others(15): Show GGTGGGAGGGGGTGTGTGAGCAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02559.hp2 others(4): Show HG01884.hp1 HG02257.hp2 HG02559.hp2 HG02809.hp1 HG02818.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0008g0073 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0008g0073 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0072 a0001c0003t0002g0137	7	142	0.0493	22	c.658 others(39): Show c.658+2899_658+2920dupTTGCTCACACACCCCCTCCCAC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	7/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19007.hp1 NA19066.hp1 HG02738.hp1 NA19007.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0007 a0001c0001t0004g0031 a0001c0001t0006g0124 a0001c0001t0003g0007 a0001c0001t0004g0031 a0001c0001t0006g0124	3	11	0.2727	22	c.295 others(41): Show c.295-10454_295-10433dupAAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02559.hp1 others(5): Show HG01884.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 NA18960.hp2 NA18961.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0007t0003	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0004g0050 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0074 a0001c0001t0009g0027 a0001c0002t0001g0054 a0001c0007t0003g0075	8	12	0.6667	22	c.295 others(41): Show c.295-46807_295-46786dupATATATATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(15): Show TAAAGAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01975.hp2 HG02683.hp1 others(2): Show HG01123.hp2 HG01975.hp2 HG02683.hp1 HG03834.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0005g0112 a0001c0001t0006g0120 others(2): Show a0001c0001t0001g0001 a0001c0001t0005g0112 a0001c0001t0006g0120 a0001c0001t0006g0142 a0001c0002t0001g0030	5	62	0.0806	22	c.294 others(39): Show c.294+2624_294+2625insCTTTCTCTTTCTTTCTTTCTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332564	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	125	0.0080	22	c.294 others(39): Show c.294+2570_294+2571insCTTTCTTTCTTTCTTTCTTTCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02738.hp1 HG01261.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0010 a0001c0001t0004 a0001c0002t0010	a0001c0001t0004g0031 a0001c0002t0010g0092 a0001c0001t0004g0031 a0001c0002t0010g0092	2	74	0.0270	22	c.96- others(39): Show c.96-17276_96-17255dupAAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	43	0.0233	22	c.95+ others(39): Show c.95+11327_95+11328insTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141061	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0064 a0001c0003t0006g0064	1	53	0.0189	22	c.204 others(41): Show c.204+17472_204+17493dupTGTGTGTGTGTGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02922.hp1 others(1): Show HG01884.hp2 HG02622.hp2 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0032 a0001c0001 a0001c0002 a0001c0032	a0001c0001t0001 a0001c0002t0001 a0001c0032t0001 a0001c0001t0001 a0001c0002t0001 a0001c0032t0001	a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0002t0001g0082 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0002t0001g0082 a0001c0032t0001g0048	4	85	0.0471	22	c.204 others(41): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	23	0.0435	22	c.321 others(41): Show c.321+17933_321+17954dupGTGTGTGTGTGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54475809	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01258.hp2 HG02080.hp2 others(4): Show HG01123.hp1 HG01258.hp2 HG02080.hp2 HG02622.hp2 HG02970.hp2 HG04204.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0033 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0033t0001 a0001c0040t0001	a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0118 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0002t0001g0004 a0001c0004t0001g0007 a0001c0033t0001g0114 a0001c0040t0001g0117	7	10	0.7000	22	c.382 others(41): Show c.382-27676_382-27655dupTGTGTGTGTGTGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0102 a0001c0014t0001g0102	1	45	0.0222	22	c.138 others(41): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG03195.hp2 others(3): Show HG02486.hp2 HG02622.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0001c0031	a0001c0001t0001 a0001c0004t0001 a0001c0011t0006 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0006 a0001c0031t0001	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0004t0001g0095 a0001c0011t0006g0056 a0001c0031t0001g0032	6	71	0.0845	22	c.191 others(41): Show c.1913-1479_1913-1458dupTCTCTCTCTCTCTCTCTCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55008886	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0089 a0001c0028t0001g0089	1	113	0.0088	22	c.282 others(39): Show c.2820-501_2820-500insCACACACACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55008888	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0085 a0001c0041t0001g0085	1	14	0.0714	22	c.282 others(39): Show c.2820-484_2820-463dupCACACACACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	85	0.0118	22	c.121 others(34): Show c.121-24_121-3dupTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG06807.hp1 HG01358.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0112 a0001c0002t0014g0019 a0001c0002t0002g0112 a0001c0002t0014g0019	2	82	0.0244	22	c.214 others(41): Show c.214-93935_214-93914dupTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18356938	A A	ATGTCTTT others(15): Show ATGTCTTTTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp2 NA20805.hp1 HG00738.hp1 HG02109.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0007g0188	3	111	0.0270	22	c.214 others(41): Show c.214-44985_214-44984insGTCTTTTTTTTTTCTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18984.hp2 HG01361.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0171 a0001c0001t0030g0056 a0001c0001t0001g0171 a0001c0001t0030g0056	2	95	0.0211	22	c.130 others(37): Show c.1302+56_1302+77dupTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18356938	A A	ATGTCTTT others(15): Show ATGTCTTTTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01081.hp2 HG02109.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0003t0008 a0002c0003t0063	a0001c0001t0001g0279 a0001c0001t0003g0277 a0001c0001t0003g0280 others(3): Show a0001c0001t0001g0279 a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0010g0287 a0002c0003t0008g0275 a0002c0003t0063g0278	6	189	0.0317	22	c.51+ others(39): Show c.51+15962_51+15963insGTCTTTTTTTTTTCTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18984.hp2 NA20905.hp2 HG01361.hp1 NA18984.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0055 a0001c0001t0001 a0001c0001t0053 a0001c0001t0055	a0001c0001t0001g0195 a0001c0001t0053g0088 a0001c0001t0055g0079 a0001c0001t0001g0195 a0001c0001t0053g0088 a0001c0001t0055g0079	3	142	0.0211	22	c.114 others(37): Show c.1140+56_1140+77dupTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861851	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02922.hp2 NA18942.hp1 others(2): Show HG00323.hp1 HG02922.hp2 NA18942.hp1 NA18950.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019	a0001c0001t0005g0004 a0001c0001t0006g0006 a0001c0001t0006g0197 others(2): Show a0001c0001t0005g0004 a0001c0001t0006g0006 a0001c0001t0006g0197 a0001c0001t0018g0097 a0001c0001t0019g0220	5	208	0.0240	22	c.759 others(39): Show c.759-1032_759-1031insGTTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151878550	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp1 HG02071.hp2 others(8): Show HG01361.hp1 HG02056.hp1 HG02071.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03669.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0001c0002t0024 a0001c0003t0007 a0002c0004t0037	a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0173 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0173 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0145 a0001c0001t0032g0074 a0001c0002t0002g0200 a0001c0002t0024g0176 a0001c0003t0007g0171 a0002c0004t0037g0084	11	23	0.4783	22	c.391 others(39): Show c.391-2016_391-1995dupGTGTGTGTGTGTGTGTGTGTGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(15): Show GCTCGCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	139	0.0072	22	c.-11 others(33): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24312955	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03516.hp1 HG03834.hp2 others(1): Show HG00558.hp1 HG03516.hp1 HG03834.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0195 a0001c0001t0001g0243	4	199	0.0201	22	c.212 others(41): Show c.212-33778_212-33777insAAGAAAGAAAGAAAGAAAGAAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24321258	C C	CAGGAGTT others(15): Show CAGGAGTTTGAGACCAACCTGGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	364	0.0027	22	c.212 others(41): Show c.212-25476_212-25475insAGGAGTTTGAGACCAACCTGGG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3			chr16	TogoVar
CACNG3_chr16_24251335_24367412	24327438	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	356	0.0028	22	c.212 others(41): Show c.212-19295_212-19294insGTGTGTGTGTATATATATATAT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG4_chr17_66959707_67038398	67002618	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03654.hp2 NA18964.hp1 HG02027.hp1 HG03654.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0002t0002 a0001c0003t0018 a0001c0001t0009 a0001c0002t0002 a0001c0003t0018	a0001c0001t0009g0245 a0001c0002t0002g0063 a0001c0003t0018g0262 a0001c0001t0009g0245 a0001c0002t0002g0063 a0001c0003t0018g0262	3	211	0.0142	22	c.221 others(41): Show c.221-15564_221-15543dupTCTCTCTCTCTCTCTCTCTCTC	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66889599	C C	CCAAAATC others(15): Show CCAAAATCTGATGGCAGAGGCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0315 a0001c0001t0107g0315	1	370	0.0027	22	c.43 others(33): Show c.4379_*4380insAACAAAATCTGATGGCAGAGGC	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	6/6	4380	INFO_REALIGN_3_PRIME	chr17	TogoVar
CACTIN_chr19_3605645_3631790	3605898	C C	CAGACATA others(15): Show CAGACATAGACACACACAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(9): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02486.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03471.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0008 a0002c0001t0001g0064 a0002c0001t0001g0135 others(4): Show a0002c0001t0001g0008 a0002c0001t0001g0064 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0186	12	406	0.0296	22	c.60 others(33): Show c.6024_*6025insATATCTGTGTGTGTCTATGTCT	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		4746		chr19	TogoVar
CACUL1_chr10_118671411_118759970	118738892	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0039 a0001c0001t0092g0039	1	116	0.0086	22	c.368 others(39): Show c.368-8504_368-8483dupTTTTTTTTTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	1/8			chr10	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02698.hp2 HG03491.hp2 others(3): Show HG01515.hp2 HG02698.hp2 HG03491.hp2 HG04115.hp1 NA19043.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0003c0004t0006	a0001c0001t0001g0034 a0001c0001t0001g0154 a0001c0001t0006g0038 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0154 a0001c0001t0006g0038 a0001c0001t0013g0099 a0001c0001t0017g0080 a0003c0004t0006g0030	6	62	0.0968	22	c.125 others(41): Show c.125-43689_125-43668dupAGAGAGAGAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284089	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02486.hp2 HG02572.hp1 others(3): Show HG01256.hp2 HG02486.hp2 HG02572.hp1 HG03490.hp2 NA18984.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015	a0001c0001t0001g0163 a0001c0001t0004g0089 a0001c0001t0010g0159 others(3): Show a0001c0001t0001g0163 a0001c0001t0004g0089 a0001c0001t0010g0159 a0001c0001t0010g0160 a0001c0001t0010g0162 a0001c0001t0015g0138	6	163	0.0368	22	c.125 others(41): Show c.125-43670_125-43669insGGAGAGAGAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284114	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	129	0.0078	22	c.125 others(41): Show c.125-43695_125-43694insCAGAGAGAGAGAGAGAGAGAGA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284114	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0129 a0001c0001t0034g0129	1	129	0.0078	22	c.125 others(41): Show c.125-43695_125-43694insCACAGAGAGAGAGAGAGAGAGA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115306072	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG02486.hp1 others(4): Show HG00741.hp2 HG01361.hp1 HG02486.hp1 HG02970.hp2 HG03490.hp2 HG03704.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0039	a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0002g0144 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0002g0144 a0001c0001t0002g0157 a0001c0001t0009g0032 a0001c0001t0016g0141 a0001c0001t0039g0140	7	58	0.1207	22	c.125 others(41): Show c.125-65674_125-65653dupTGTGTGTGTGTGTGTGTGTGTG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115308211	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	68	0.0147	22	c.125 others(41): Show c.125-67792_125-67791insGTGTATATATATATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115400661	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	58	0.0172	22	c.124 others(43): Show c.124+103588_124+103609dupTATATATATATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar

Search by Variant

Search

Search Results