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
GYPC_chr2_126651158_126701667	126660035	ACTGAGGG others(10): Show ACTGAGGGCGCAGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0215 a0001c0001t0006g0215	1	416	0.0024	-17	c.49+ others(32): Show c.49+3727_49+3743delAGGGCGCAGCCAGGCTG	GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYS1_chr19_48963130_48998309	48979336	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02572.hp2 others(3): Show HG01884.hp1 HG02055.hp2 HG02572.hp2 HG03516.hp2 HG03704.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0061 a0001c0001t0001g0228 a0001c0001t0002g0148 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0228 a0001c0001t0002g0148 a0001c0004t0001g0019 a0001c0004t0001g0111	6	390	0.0154	-17	c.117 others(36): Show c.1170-1196_1170-1180delAAAAAAAAAAAAAAAAA	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15			chr19	TogoVar
H1-0_chr22_37800229_37812432	37811014	AGACTAAG others(10): Show AGACTAAGGGCTCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	360	0.0028	-17	c.48 others(28): Show c.4886_*4902delGACTAAGGGCTCTGGGG	H1-0	ENSG00000189060.6	transcript	ENST00000340857.4	protein_coding		3583		chr22	TogoVar
H2AB2_chrX_155375709_155386299	155376852	TAGAGGCA others(10): Show TAGAGGCAAATCAGACCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0000 a0006c0005t0004g0000	1	229	0.0044	-17	c.-39 others(28): Show c.-3934_-3918delAGAGGCAAATCAGACCA	H2AB2	ENSG00000277858.2	transcript	ENST00000354514.6	protein_coding		3856		chrX	TogoVar
H2AC19_chr1_149846061_149856594	149851709	GGCGGGGC others(10): Show GGCGGGGCGGGGCGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	328	0.0031	-17	c.20 others(26): Show c.204_*220delGCGGGGCGGGGCGGGGT	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		116		chr1	TogoVar
H2AZ2_chr7_44826978_44853087	44843137	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03098.hp1 HG00438.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0220 a0001c0001t0004g0166 a0001c0001t0001g0220 a0001c0001t0004g0166	2	406	0.0049	-17	c.81+ others(30): Show c.81+123_81+139delTTTTTTTTTTTTTTTTT	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	2/4			chr7	TogoVar
H2BW2_chrX_104034956_104047454	104039460	CAGCAGCT others(10): Show CAGCAGCTTGGGAGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA19087.hp1 NA18941.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	332	0.0060	-17	c.-53 others(26): Show c.-534_-518delAGCAGCTTGGGAGGCCA	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding		495		chrX	TogoVar
H3C11_chr6_27866845_27877346	27876576	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp1 others(20): Show HG00099.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01123.hp2 HG01358.hp2 HG01928.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02723.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 NA18985.hp1 NA19064.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	23	374	0.0615	-17	c.-42 others(28): Show c.-4278_-4262delTTTTTTTTTTTTTTTTT	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		4231		chr6	TogoVar
H3C15_chr1_149847608_149858125	149851709	GGCGGGGC others(10): Show GGCGGGGCGGGGCGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	332	0.0030	-17	c.-94 others(26): Show c.-945_-929delGCGGGGCGGGGCGGGGT	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		898		chr1	TogoVar
H4C13_chr6_27868148_27878534	27876576	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp1 others(21): Show HG00099.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01123.hp2 HG01358.hp1 HG01928.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02723.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 NA18985.hp1 NA19064.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	24	384	0.0625	-17	c.-30 others(28): Show c.-3083_-3067delTTTTTTTTTTTTTTTTT	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		3043		chr6	TogoVar
H4C14_chr1_149827657_149838052	149838035	TCTCTCTC others(10): Show TCTCTCTCTCTCTCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03579.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	2	236	0.0085	-17	c.50 others(28): Show c.5040_*5056delCTCTCTCTCTCTCACAC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4984		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865949	AAGAAAGA others(10): Show AAGAAAGAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-17	c.-48 others(28): Show c.-4835_-4819delCTTTCTTTCTTCTTTCT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4791		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865958	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-17	c.-48 others(28): Show c.-4844_-4828delTCTTTCTTTCTTTCTTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4800		chr1	TogoVar
HAAO_chr2_42762089_42797583	42777420	CGTCTATC others(10): Show CGTCTATCTATGTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	410	0.0024	-17	c.350 others(34): Show c.350+5877_350+5893delACAACACATAGATAGAC	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding	4/9			chr2	TogoVar
HABP4_chr9_96445169_96496336	96494756	TCCCCTCC others(10): Show TCCCCTCCCGTCCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	306	0.0033	-17	c.47 others(28): Show c.4719_*4735delCCCCTCCCGTCCCCTCC	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding		3421		chr9	TogoVar
HACD2_chr3_123486554_123590053	123526527	CTTTTCCT others(10): Show CTTTTCCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0114 a0001c0001t0013g0115 a0001c0001t0013g0114 a0001c0001t0013g0115	2	350	0.0057	-17	c.381 others(34): Show c.381+1842_381+1858delAAAAAAAAAAAGGAAAA	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	4/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123569988	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18994.hp2 HG02280.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0197 a0001c0002t0005g0019 a0001c0001t0002g0197 a0001c0002t0005g0019	2	350	0.0057	-17	c.274 others(34): Show c.274-2225_274-2209delTTTTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65537947	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	328	0.0031	-17	c.87+ others(32): Show c.87+7231_87+7247delAAAAAAAAAAATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537949	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0285 a0001c0001t0006g0285	1	328	0.0031	-17	c.87+ others(32): Show c.87+7233_87+7249delAAAAAAAAATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537951	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02630.hp2 HG00621.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0284 a0001c0001t0007g0187 a0001c0001t0006g0284 a0001c0001t0007g0187	2	328	0.0061	-17	c.87+ others(32): Show c.87+7235_87+7251delAAAAAAATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65581547	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	328	0.0031	-17	c.51 others(28): Show c.5169_*5185delAAAAAAAAAAAAAAAAA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding		3199		chr15	TogoVar
HACE1_chr6_104723094_104864919	104831946	AAGAGAAG others(10): Show AAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0079 a0001c0002t0001g0082	2	346	0.0058	-17	c.534 others(34): Show c.534+1079_534+1095delCTTCTCTTCTCTTCTCT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HACE1_chr6_104723094_104864919	104860650	AAGTTGAA others(10): Show AAGTTGAACACTTGAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	346	0.0029	-17	c.-10 others(28): Show c.-1025_-1009delGTTTCAAGTGTTCAACT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		732		chr6	TogoVar
HACL1_chr3_15555699_15606569	15600068	GATAAAGA others(10): Show GATAAAGAATGTCATTCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 NA18942.hp1 others(1): Show HG00544.hp1 HG01261.hp2 NA18942.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 others(1): Show a0001c0001t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199	4	428	0.0094	-17	c.186 others(34): Show c.186+1005_186+1021delTGAATGACATTCTTTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HAGHL_chr16_722106_734715	722979	GTGGCCCG others(10): Show GTGGCCCGGACCAGCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0014 a0001c0002t0013g0014	1	398	0.0025	-17	c.-45 others(28): Show c.-4530_-4514delTGGCCCGGACCAGCAGC	HAGHL	ENSG00000103253.19	transcript	ENST00000389703.8	protein_coding		4126		chr16	TogoVar
HAS3_chr16_69100653_69122660	69104992	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0010 a0001c0004t0008g0010	1	410	0.0024	-17	c.-79 others(26): Show c.-795_-779delTTTTTTTTTTTTTTTTT	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding		660		chr16	TogoVar
HAUS4_chr14_22941228_22962090	22958955	AAAAAATT others(10): Show AAAAAATTAAAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	317	0.0032	-17	c.-20 others(28): Show c.-2079_-2063delATTTATTTTTAATTTTT	HAUS4	ENSG00000092036.19	transcript	ENST00000541587.6	protein_coding		1866		chr14	TogoVar
HAUS8_chr19_17044729_17080452	17055138	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02004.hp1 HG02148.hp1 others(4): Show HG00140.hp2 HG02004.hp1 HG02148.hp1 HG02602.hp1 NA18955.hp1 NA19083.hp1 NA19090.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0013 a0002c0001t0001g0048 a0002c0001t0001g0145 others(3): Show a0002c0001t0001g0013 a0002c0001t0001g0048 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0154 a0002c0001t0001g0167	7	400	0.0175	-17	c.787 others(32): Show c.787+706_787+722delATATATATATATTTTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044612	AAAGAGAA others(10): Show AAAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0318 a0001c0003t0001g0318	1	352	0.0028	-17	c.782 others(34): Show c.782-1947_782-1931delCTTTCTTTCTTTCTCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157092878	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00621.hp2 others(49): Show HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01081.hp1 HG01346.hp2 HG01952.hp2 HG02027.hp2 HG02132.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG03017.hp1 HG03490.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0005g0007 a0001c0001t0005g0085 a0001c0001t0009g0093 a0001c0001t0010g0094	52	380	0.1368	-17	c.676 others(34): Show c.676+2411_676+2427delTTTTTTTTTTTTTTTTT	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6			chr5	TogoVar
HBA1_chr16_171680_182522	181906	CGGCAAAC others(10): Show CGGCAAACTGTGTCATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-17	c.44 others(28): Show c.4496_*4512delGGCAAACTGTGTCATGT	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4385		chr16	TogoVar
HBM_chr16_160978_171764	164714	GGGGCGGG others(10): Show GGGGCGGGGCCGCGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-17	c.-12 others(28): Show c.-1283_-1267delGGGCGGGGCCGCGGGGC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1263		chr16	TogoVar
HBM_chr16_160978_171764	164931	CGCGGGGC others(10): Show CGCGGGGCGGGGCGCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-17	c.-10 others(28): Show c.-1066_-1050delGCGGGGCGGGGCGCGGG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1046		chr16	TogoVar
HBQ1_chr16_175459_186179	179912	AGGCAGAA others(10): Show AGGCAGAATAAACTGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	-17	c.-57 others(26): Show c.-574_-558delGGCAGAATAAACTGACT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		546		chr16	TogoVar
HBQ1_chr16_175459_186179	181518	ACGCACGC others(10): Show ACGCACGCGGGCGGCGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-17	c.41 others(26): Show c.411_*427delCGCACGCGGGCGGCGTT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		340		chr16	TogoVar
HBQ1_chr16_175459_186179	182872	GACAGGAG others(10): Show GACAGGAGAATCACTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	-17	c.17 others(28): Show c.1765_*1781delACAGGAGAATCACTTGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		1694		chr16	TogoVar
HBQ1_chr16_175459_186179	182943	GCGACAGA others(10): Show GCGACAGAGCGAGACTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	-17	c.18 others(28): Show c.1836_*1852delCGACAGAGCGAGACTGT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		1765		chr16	TogoVar
HBQ1_chr16_175459_186179	183423	AAGTCCAG others(10): Show AAGTCCAGGGGAATTTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	-17	c.23 others(28): Show c.2316_*2332delAGTCCAGGGGAATTTGC	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		2245		chr16	TogoVar
HBQ1_chr16_175459_186179	184424	AAGGTAAC others(10): Show AAGGTAACCCTGTGCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	384	0.0026	-17	c.33 others(28): Show c.3317_*3333delAGGTAACCCTGTGCAGG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		3246		chr16	TogoVar
HBQ1_chr16_175459_186179	184756	AGCCATGA others(10): Show AGCCATGACTACAACACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-17	c.36 others(28): Show c.3649_*3665delGCCATGACTACAACACT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		3578		chr16	TogoVar
HBQ1_chr16_175459_186179	185346	GTGAAAAC others(10): Show GTGAAAACATGGGACTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-17	c.42 others(28): Show c.4239_*4255delTGAAAACATGGGACTCC	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4168		chr16	TogoVar
HBQ1_chr16_175459_186179	185648	AATCAGCA others(10): Show AATCAGCAGACACGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-17	c.45 others(28): Show c.4541_*4557delATCAGCAGACACGGGGG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4470		chr16	TogoVar
HBQ1_chr16_175459_186179	186162	GACACGGG others(10): Show GACACGGGGGGAACAGCG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp1 HG03139.hp2 others(4): Show HG02486.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	7	384	0.0182	-17	c.50 others(28): Show c.5055_*5071delACACGGGGGGAACAGCG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4984		chr16	TogoVar
HBS1L_chr6_134955378_135059822	135035750	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	348	0.0029	-17	c.430 others(34): Show c.430+3806_430+3822delTTTTTTTTTTTTTTTTT	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	4/17			chr6	TogoVar
HCAR2_chr12_122696293_122708357	122698090	ACTTTCTT others(10): Show ACTTTCTTTTCTTTCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-17	c.40 others(28): Show c.4085_*4101delAAAGAAAGAAAAGAAAG	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3202		chr12	TogoVar
HCFC1_chrX_153942557_153976818	153975629	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03195.hp2 HG01099.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0031 a0001c0003t0007g0032 a0001c0003t0007g0031 a0001c0003t0007g0032	2	268	0.0075	-17	c.-48 others(28): Show c.-4806_-4790delAAAAAAAAAAAAAAAAA	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding		3812		chrX	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18954.hp1 NA18954.hp2 others(1): Show HG02083.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0166	4	290	0.0138	-17	c.62+ others(32): Show c.62+2022_62+2038delAAAAAAAAAAAAAAAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45534404	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	226	0.0044	-17	c.850 others(36): Show c.850-72414_850-72398delTTTTTTTTTTTTTTTTT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN3_chr1_155272463_155294848	155291025	TAATAATA others(10): Show TAATAATAATAATAATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	339	0.0030	-17	c.25 others(28): Show c.2563_*2579delAATAATAATAATAATAA	HCN3	ENSG00000143630.10	transcript	ENST00000368358.4	protein_coding		1178		chr1	TogoVar
HCRTR2_chr6_55169515_55287617	55188912	GTTCCAAA others(10): Show GTTCCAAAGAATGAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	368	0.0027	-17	c.223 others(36): Show c.223+14108_223+14124delAAGAATGAAAAATTCCA	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results