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
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0016 a0001c0067t0016	a0001c0067t0016g0102 a0001c0067t0016g0102	1	22	0.0455	19	c.566 others(38): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124646391	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02273.hp2 others(3): Show HG00438.hp1 HG00438.hp2 HG02273.hp2 NA18947.hp2 NA18955.hp2 NA18995.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0016 a0001c0022 others(2): Show a0001c0005 a0001c0016 a0001c0022 a0001c0058 a0005c0048	a0001c0005t0001 a0001c0016t0011 a0001c0022t0001 others(3): Show a0001c0005t0001 a0001c0016t0011 a0001c0022t0001 a0001c0022t0031 a0001c0058t0001 a0005c0048t0003	a0001c0005t0001g0042 a0001c0016t0011g0063 a0001c0022t0001g0008 others(3): Show a0001c0005t0001g0042 a0001c0016t0011g0063 a0001c0022t0001g0008 a0001c0022t0031g0060 a0001c0058t0001g0016 a0005c0048t0003g0007	6	70	0.0857	19	c.566 others(38): Show c.5665-4400_5665-4399insTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG01433.hp1 others(6): Show HG00741.hp1 HG01361.hp2 HG01433.hp1 HG02132.hp1 HG03209.hp1 HG03688.hp2 NA18949.hp2 NA19002.hp1 NA19012.hp1	a0001 a0016 a0022 others(1): Show a0001 a0016 a0022 a0032	a0001c0001 a0016c0032 a0022c0056 others(1): Show a0001c0001 a0016c0032 a0022c0056 a0032c0052	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0016c0032t0002 a0022c0056t0003 a0032c0052t0003	a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0003g0016 others(6): Show a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0126 a0001c0001t0005g0242 a0016c0032t0002g0089 a0022c0056t0003g0035 a0032c0052t0003g0039	9	96	0.0938	19	c.-83 others(36): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0008 a0001c0054t0008	a0001c0054t0008g0077 a0001c0054t0008g0077	1	88	0.0114	19	c.-83 others(36): Show c.-83-5263_-83-5262insAAAAAAAAAAAGAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8340274	C C	CATATATA others(12): Show CATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0146 a0001c0022t0001g0146	1	353	0.0028	19	c.-28 others(36): Show c.-28-2419_-28-2418insTATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8346368	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	205	0.0049	19	c.-31 others(30): Show c.-3173_-3172insATATATATATATATATTTT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3107		chr19	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	74	0.0135	19	c.129 others(38): Show c.1290-1611_1290-1610insAAGAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01109.hp2 others(11): Show HG00099.hp1 HG00323.hp2 HG01109.hp2 HG01928.hp1 HG02145.hp2 HG02559.hp1 HG02965.hp2 HG03017.hp2 HG03688.hp2 NA18982.hp1 NA18995.hp1 NA19000.hp1 NA19070.hp1 NA19083.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0008c0012 a0001c0001 a0001c0006 a0008c0012	a0001c0001t0002 a0001c0001t0009 a0001c0006t0004 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0006t0004 a0008c0012t0002	a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 others(11): Show a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0009g0158 a0001c0001t0009g0185 a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0006t0004g0190 a0008c0012t0002g0142	14	87	0.1609	19	c.129 others(38): Show c.1290-1629_1290-1611dupAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46130187	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02602.hp2 HG02738.hp2 HG02257.hp2 HG02602.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0309 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0309 a0003c0004t0005g0315 a0003c0004t0005g0316	3	117	0.0256	19	c.129 others(40): Show c.1290-35505_1290-35487dupTTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46132881	T T	TGCAGTGA others(12): Show TGCAGTGAGCCATCATCATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0005 a0003c0004t0024	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(18): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300	21	320	0.0656	19	c.128 others(40): Show c.1289+37955_1289+37973dupTATGATGATGGCTCACTGC	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	39	0.0256	19	c.664 others(36): Show c.664-1565_664-1547dupTTTTTTTTTTTTTTTTTTT	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20			chr2	TogoVar
KANTR_chrX_53089142_53132438	53097350	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	88	0.0114	19	c.-94 others(38): Show c.-941-2120_-941-2102dupTTTTTTTTTTTTTTTTTTT	KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	71	0.0141	19	c.37 others(30): Show c.3761_*3762insAAATATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 NA18983.hp1 NA19002.hp1 others(3): Show HG01261.hp2 NA18983.hp1 NA19002.hp1 NA19002.hp2 NA19059.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0001g0148	6	76	0.0789	19	c.37 others(30): Show c.3761_*3762insAAAAATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01346.hp2 HG01928.hp1 others(4): Show HG00423.hp2 HG01346.hp2 HG01928.hp1 HG02683.hp1 NA18941.hp2 NA18998.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0145	7	77	0.0909	19	c.37 others(30): Show c.3761_*3762insAAAAAAATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA18968.hp2 NA18977.hp2 HG02015.hp2 NA18968.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0187 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0187	3	73	0.0411	19	c.37 others(30): Show c.3761_*3762insAAAAAAAAATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0167 a0005c0006t0001g0167	1	71	0.0141	19	c.37 others(30): Show c.3761_*3762insAAAAAAAAAAATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	71	0.0141	19	c.37 others(30): Show c.3761_*3762insAAAAAAAAAAAAATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KASH5_chr19_49383249_49422990	49386790	G G	GGGGAAGG others(12): Show GGGGAAGGGAGGGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG02109.hp1 others(1): Show HG01099.hp1 HG01106.hp2 HG02109.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0004 a0001c0006 a0002c0002 a0002c0004	a0001c0006t0001 a0002c0002t0001 a0002c0004t0001 a0001c0006t0001 a0002c0002t0001 a0002c0004t0001	a0001c0006t0001g0077 a0001c0006t0001g0078 a0002c0002t0001g0135 others(1): Show a0001c0006t0001g0077 a0001c0006t0001g0078 a0002c0002t0001g0135 a0002c0004t0001g0065	4	326	0.0123	19	c.-16 others(30): Show c.-1633_-1632insGGGAAGGGAGGGGAAGGGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1458		chr19	TogoVar
KASH5_chr19_49383249_49422990	49387813	C C	CGGGAGGC others(12): Show CGGGAGGCTGAGGCAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0260 a0001c0001t0012g0260	1	352	0.0028	19	c.-61 others(28): Show c.-610_-609insGGGAGGCTGAGGCAGGAGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		435		chr19	TogoVar
KAT2B_chr3_20035446_20159404	20062309	A A	ATATATAA others(12): Show ATATATAAAATATAATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	196	0.0051	19	c.304 others(38): Show c.304-10018_304-10017insAAATATAATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20092236	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02486.hp1 others(9): Show HG00741.hp1 HG01891.hp1 HG02486.hp1 HG03195.hp1 HG03516.hp1 HG03688.hp1 HG04228.hp2 NA18944.hp1 NA18957.hp2 NA18994.hp1 NA19063.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0337 a0001c0002t0001g0354 a0001c0002t0002g0034 others(9): Show a0001c0002t0001g0337 a0001c0002t0001g0354 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0040 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0323 a0001c0002t0002g0359	12	261	0.0460	19	c.431 others(36): Show c.431-3017_431-3016insATTTATTTATTATTTATTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20143792	A A	AATACTGC others(12): Show AATACTGCATGTTTTCTGTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	372	0.0027	19	c.200 others(38): Show c.2005-2520_2005-2502dupCTGCATGTTTTCTGTTATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01109.hp1 others(17): Show HG00140.hp1 HG01081.hp1 HG01109.hp1 HG01891.hp1 HG02056.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG03516.hp1 NA18939.hp1 NA18944.hp2 NA18955.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA19010.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0004c0011t0001	a0001c0001t0001g0071 a0001c0001t0001g0283 a0001c0001t0002g0102 others(17): Show a0001c0001t0001g0071 a0001c0001t0001g0283 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0004g0030 a0001c0002t0001g0098 a0001c0002t0001g0109 a0001c0002t0001g0148 a0001c0002t0001g0325 a0001c0002t0001g0338 a0001c0002t0002g0035 a0001c0002t0002g0040 a0001c0002t0002g0320 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0013 a0001c0002t0005g0018 a0001c0002t0005g0020 a0001c0002t0006g0242 a0004c0011t0001g0186	20	64	0.3125	19	c.230 others(38): Show c.2305+1015_2305+1033dupAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT8_chr16_31112664_31136359	31117401	T T	TAAATAAA others(12): Show TAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	286	0.0035	19	c.-28 others(28): Show c.-281_-280insAAATAAATAAATAAATAAA	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		262		chr16	TogoVar
KATNA1_chr6_149589873_149653714	149609802	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG00741.hp2 others(11): Show HG00621.hp2 HG00738.hp1 HG00741.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG02145.hp2 HG02155.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03704.hp1 NA18957.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0253	14	154	0.0909	19	c.502 others(36): Show c.502-5021_502-5020insTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp2 NA18959.hp1 others(1): Show HG01192.hp1 HG02622.hp2 NA18959.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0243 a0001c0002t0001g0157	4	53	0.0755	19	c.502 others(36): Show c.502-8416_502-8398dupTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613200	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03669.hp2 HG03490.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0111 a0001c0001t0001g0059 a0001c0001t0001g0111	2	293	0.0068	19	c.502 others(36): Show c.502-8419_502-8418insCTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	123	0.0081	19	c.163 others(36): Show c.163-1360_163-1359insATTTTATTTTATTTTATTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30274892	C C	CATACGCG others(12): Show CATACGCGCGCGCGCGCGCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0118 a0001c0001t0014g0118	1	380	0.0026	19	c.323 others(36): Show c.323+5170_323+5171insAGCGCGCGCGCGCGCGTAT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34137036	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA18970.hp1 HG02886.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0002g0027 a0001c0001t0001g0128 a0001c0001t0002g0027	2	15	0.1333	19	c.53 others(30): Show c.5302_*5303insTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding		3637		chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34188137	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	29	0.0345	19	c.-15 others(38): Show c.-15+21795_-15+21813dupTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14736254	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	70	0.0143	19	c.226 others(40): Show c.226+137031_226+137032insTGTGTGTGTGTGTGTGTGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAAA others(12): Show GAGAGAAAGAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0008 a0002c0007t0001g0008	1	131	0.0076	19	c.227 others(38): Show c.227-77341_227-77340insGAAAGAAAGAAAAGAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGGGAGGG others(12): Show AGGGAGGGAGGGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	40	0.0250	19	c.227 others(38): Show c.227-77329_227-77328insGGGAGGGAGGGAGGGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14918707	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0097 a0008c0014t0005g0097	1	138	0.0072	19	c.227 others(38): Show c.227-41976_227-41975insAAATATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993959	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02071.hp2 HG01978.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0340 a0001c0001t0001g0204 a0001c0001t0001g0340	2	379	0.0053	19	c.-90 others(38): Show c.-908-6326_-908-6325insCACACACACACACACACAC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1			chr8	TogoVar
KBTBD12_chr3_127910232_127992666	127915220	C C	CGGGGGAC others(12): Show CGGGGGACGCTCAGTAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	400	0.0025	19	c.-47 others(28): Show c.-479_-478insGGGGGACGCTCAGTAGGGT	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding		11		chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTTTTTG others(12): Show GTTTTTTGGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	25	0.0400	19	c.275 others(38): Show c.275+22689_275+22690insGGTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	25	0.0400	19	c.275 others(38): Show c.275+22693_275+22711dupTTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156387014	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0008 a0001c0001t0001 a0004c0008t0008	a0001c0001t0001g0003 a0004c0008t0008g0051 a0001c0001t0001g0003 a0004c0008t0008g0051	2	55	0.0364	19	c.276 others(38): Show c.276-34601_276-34600insCTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB2_chr1_6040888_6106180	6103274	G G	GGAGCCCT others(12): Show GGAGCCCTGGCCAGGCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	358	0.0028	19	c.47 others(30): Show c.4700_*4701insGAGCCCTGGCCAGGCTTTC	KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding		2095		chr1	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp1 HG02976.hp1 others(2): Show HG02559.hp2 HG02970.hp1 HG02976.hp1 HG06807.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0011 a0001c0001t0071 a0001c0001t0119 others(1): Show a0001c0001t0011 a0001c0001t0071 a0001c0001t0119 a0005c0008t0011	a0001c0001t0011g0059 a0001c0001t0011g0235 a0001c0001t0071g0079 others(2): Show a0001c0001t0011g0059 a0001c0001t0011g0235 a0001c0001t0071g0079 a0001c0001t0119g0236 a0005c0008t0011g0049	5	129	0.0388	19	c.568 others(38): Show c.568-50679_568-50678insTATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(12): Show TATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG03471.hp2 HG01243.hp1 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0060 a0001c0001t0096 a0001c0001t0002 a0001c0001t0060 a0001c0001t0096	a0001c0001t0002g0061 a0001c0001t0060g0058 a0001c0001t0096g0252 a0001c0001t0002g0061 a0001c0001t0060g0058 a0001c0001t0096g0252	3	127	0.0236	19	c.568 others(38): Show c.568-50679_568-50678insCATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB2_chr8_72532225_72943349	72778733	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20905.hp1 HG03209.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0161 a0001c0001t0003g0085 a0001c0001t0002g0161 a0001c0001t0003g0085	2	22	0.0909	19	c.580 others(40): Show c.580-157190_580-157172dupAAAAAAAAAAAAAAAAAAA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75086681	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03017.hp2 HG02165.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0286 a0001c0001t0001g0174 a0001c0001t0001g0286	2	213	0.0094	19	c.688 others(38): Show c.688-35365_688-35364insATATATATATATATATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG01109.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0008 a0001c0001t0009 a0001c0003t0008	a0001c0001t0009g0301 a0001c0003t0008g0297 a0001c0001t0009g0301 a0001c0003t0008g0297	2	60	0.0333	19	c.687 others(38): Show c.687+68299_687+68317dupTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND2_chr7_120268175_120755337	120396113	C C	CTGCAAGA others(12): Show CTGCAAGATTAATAGGTACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG02622.hp1 others(10): Show HG01192.hp2 HG02055.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026	a0001c0001t0002g0020 a0001c0001t0004g0028 a0001c0001t0004g0029 others(10): Show a0001c0001t0002g0020 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0015g0023 a0001c0001t0024g0027 a0001c0001t0026g0070	13	78	0.1667	19	c.111 others(42): Show c.1115+120366_1115+120367insTGCAAGATTAATAGGTACA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5			chr7	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	ATATATAT others(12): Show ATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0205 a0001c0001t0065g0205	1	13	0.0769	19	c.10 others(30): Show c.1096_*1097insATATATATATATATATATA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNE3_chr11_74449841_74472549	74468729	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0055 a0001c0002t0037g0055	1	444	0.0023	19	c.-15 others(30): Show c.-1522_-1521insGGAAGGAAGGAAGGAAGGA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		1181		chr11	TogoVar

Search by Variant

Search

Search Results