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
GSG1L_chr16_27782528_28068714	27803792	T T	TATATATA others(21): Show TATATATATATATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0034 a0001c0006t0009 a0001c0002t0034 a0001c0006t0009	a0001c0002t0034g0235 a0001c0006t0009g0022 a0001c0002t0034g0235 a0001c0006t0009g0022	2	240	0.0083	28	c.898 others(45): Show c.898+3694_898+3695insCTATATATCTATATATATATATATATAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946579	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	240	0.0042	28	c.397 others(47): Show c.397+16576_397+16577insCTCTCTCTCTCTCTCTTTCTTTCTTT CT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946579	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0156 a0001c0001t0044g0156	1	240	0.0042	28	c.397 others(47): Show c.397+16576_397+16577insCTCTCTCTCTCTCTCTCTCTTTCTTT CT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979661	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03453.hp2 HG01106.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0044 a0001c0001t0004 a0001c0001t0044	a0001c0001t0004g0067 a0001c0001t0044g0156 a0001c0001t0004g0067 a0001c0001t0044g0156	2	240	0.0083	28	c.350 others(47): Show c.350-16459_350-16458insCTCTTTCTTTCTTTCTTTCTTTCTTT CT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979726	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19030.hp1 NA19043.hp1 HG02818.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0001t0001 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0010g0024 a0001c0002t0002g0065 a0001c0001t0001g0023 a0001c0001t0010g0024 a0001c0002t0002g0065	3	240	0.0125	28	c.350 others(47): Show c.350-16524_350-16523insTTTCCTTCCTTCCTTCCTTCCTTCCT TC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSK3B_chr3_119816321_120099447	119922196	G G	GGGAAGGA others(21): Show GGGAAGGAGGGAAGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0207 a0001c0002t0053g0207	1	300	0.0033	28	c.477 others(45): Show c.477+1176_477+1177insTTCCTTCCTTCCCTCCTTCCCTCCTTCC	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	4/10			chr3	TogoVar
GSN_chr9_121263162_121337842	121318075	C C	CCTTATAG others(21): Show CCTTATAGATACTCAGAAAAAGATAACAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0235 a0011c0023t0001g0235	1	322	0.0031	28	c.887 others(43): Show c.887-327_887-300dupATAGATACTCAGAAAAAGATAACAACTT	GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GSTCD_chr4_105703784_105852725	105766887	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02145.hp1 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0137 a0001c0002t0011g0138 a0001c0002t0002g0137 a0001c0002t0011g0138	2	186	0.0108	28	c.124 others(49): Show c.1240+37413_1240+37414insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTM4_chr1_109651099_109666700	109654138	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	364	0.0028	28	c.-22 others(39): Show c.-2252_-2251insAAGAAAGAAAGAAAGAAAGAAAGAAAGG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1960		chr1	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19056.hp1 NA19067.hp1 HG03098.hp1 NA19056.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0005 a0001c0002t0002 a0001c0004t0005	a0001c0002t0002g0097 a0001c0002t0002g0115 a0001c0004t0005g0232 a0001c0002t0002g0097 a0001c0002t0002g0115 a0001c0004t0005g0232	3	300	0.0100	28	c.469 others(45): Show c.469-3993_469-3992insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTO2_chr10_104264184_104309950	104309305	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0116 a0001c0003t0048g0116	1	300	0.0033	28	c.10 others(41): Show c.10021_*10022insATATATATATATATATATATATATATAT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		4356		chr10	TogoVar
GTDC1_chr2_143933068_144337512	144133471	T T	TATATAAT others(21): Show TATATAATATATATTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0089 a0001c0014t0003g0089	1	124	0.0081	28	c.521 others(45): Show c.521+8410_521+8411insTATATAATATATATAATATATATTATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144317384	T T	TGGAAGGA others(21): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	124	0.0081	28	c.-15 others(49): Show c.-151+15027_-151+15054dupTTCCTTCCTTCCTTCCTTCCTTCC TTCC	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTF2B_chr1_88847633_88896567	88892769	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	372	0.0027	28	c.-12 others(39): Show c.-1271_-1270insACACACACACACACACACACACACACAC	GTF2B	ENSG00000137947.12	transcript	ENST00000370500.10	protein_coding		1203		chr1	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	210	0.0048	28	c.305 others(47): Show c.305-16199_305-16198insAAAATATATATATATATATATATATA TA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	210	0.0048	28	c.305 others(47): Show c.305-16199_305-16198insAATATATATATATATATATATATATA TA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212447	G G	GTTTCTTT others(21): Show GTTTCTTTCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	210	0.0048	28	c.386 others(45): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTTCTTTCTTTCTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 NA18980.hp2 HG01123.hp1 HG02109.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0102	3	210	0.0143	28	c.386 others(47): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169397	T T	TTATATTG others(21): Show TTATATTGTATATTATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04184.hp1 HG02970.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0084 a0001c0001t0074 a0001c0001t0084	a0001c0001t0074g0118 a0001c0001t0084g0278 a0001c0001t0074g0118 a0001c0001t0084g0278	2	384	0.0052	28	c.-35 others(45): Show c.-35+1022_-34-1026dupTATATATAATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169448	A A	ATATTGTA others(21): Show ATATTGTATATTATATATATAATATACTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0065 a0001c0001t0011g0065	1	384	0.0026	28	c.-34 others(45): Show c.-34-1019_-34-1018insTGTATATTATATATATAATATACTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169714	A A	ATATATAA others(21): Show ATATATAATATATTGTATATTATATATTG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	384	0.0026	28	c.-34 others(43): Show c.-34-751_-34-750insAATATATTGTATATTATATATTGTATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	174	0.0058	28	c.-5- others(43): Show c.-5-9024_-5-9023insAAAAAAAAAAAAAATATATATATATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	174	0.0058	28	c.-5- others(43): Show c.-5-9024_-5-9023insAAAAAAAAAATATATATATATATATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C1_chr16_27455613_27554913	27459135	G G	GGTGGATG others(21): Show GGTGGATGGATGGATGGATGGACAGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01243.hp1 others(18): Show HG00099.hp2 HG00140.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG01978.hp2 HG02258.hp2 HG02273.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp1 HG02965.hp1 HG03453.hp2 HG03471.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0015	a0001c0003 a0001c0007 a0002c0002 others(2): Show a0001c0003 a0001c0007 a0002c0002 a0008c0022 a0015c0016	a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 others(3): Show a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0006 a0008c0022t0001 a0015c0016t0001	a0001c0003t0001g0005 a0001c0003t0001g0026 a0001c0003t0001g0027 others(17): Show a0001c0003t0001g0005 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0007t0001g0029 a0001c0007t0001g0039 a0001c0007t0001g0040 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0006g0081 a0008c0022t0001g0079 a0015c0016t0001g0077	21	220	0.0955	28	c.22 others(39): Show c.2214_*2215insTCATCTGTCCATCCATCCATCCATCCAC	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding		1477		chr16	TogoVar
GTPBP10_chr7_90341716_90396453	90372482	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0067 a0003c0005t0012g0067	1	390	0.0026	28	c.538 others(43): Show c.538+269_538+270insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP4_chr10_983434_1024932	1017256	G G	GAGTGTTG others(21): Show GAGTGTTGCTGTTTATTTCCTGGTTTGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0095 a0002c0003t0046g0095	1	370	0.0027	28	c.31 others(35): Show c.31_*58dupGTGTTGCTGTTTATTTCCTGGTTTGGCA	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	17/17	59	INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCA1A_chr6_42168364_42185056	42182828	G G	GCTTCCTT others(21): Show GCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	1	412	0.0024	28	c.34 others(39): Show c.3425_*3426insCTTCCTTCCTTCCTTCCTTCCTTCCTTC	GUCA1A	ENSG00000048545.18	transcript	ENST00000372958.2	protein_coding		2773		chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42182828	G G	GCTTCCTT others(21): Show GCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0166 a0001c0002t0009g0166	1	418	0.0024	28	c.19 others(39): Show c.1986_*1987insGAAGGAAGGAAGGAAGGAAGGAAGGAAG	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding		455		chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(21): Show TTCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp1 NA19043.hp1 HG02257.hp2 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	3	418	0.0072	28	c.208 others(43): Show c.208-156_208-155insTAGATAGATAGATAGATAGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188902	A A	ATCTATCT others(21): Show ATCTATCTATCTATCTATCTATCTATATC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03471.hp2 NA18944.hp1 others(2): Show HG02970.hp1 HG03471.hp2 NA18944.hp1 NA18990.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0037 a0001c0002t0003g0118 a0001c0002t0005g0111 others(1): Show a0001c0002t0003g0037 a0001c0002t0003g0118 a0001c0002t0005g0111 a0001c0002t0005g0161	5	418	0.0120	28	c.208 others(43): Show c.208-172_208-171insGATATAGATAGATAGATAGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108939324	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0277	1	374	0.0027	28	c.204 others(47): Show c.204+14234_204+14235insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106710758	T T	TGGATAAC others(21): Show TGGATAACAAGTGGGAGATGATATCCTTA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0021 a0001c0008t0054g0021	1	256	0.0039	28	c.183 others(47): Show c.1837-2120_1837-2093dupTAAGGATATCATCTCCCACTTGTTAT CC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG01106.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0082 a0001c0001t0010g0101 a0001c0001t0002g0082 a0001c0001t0010g0101	2	256	0.0078	28	c.120 others(49): Show c.1206+30077_1206+30104dupCACACACACACACACACACACACA CACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0076 a0001c0001t0037g0076	1	256	0.0039	28	c.488 others(45): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188352649	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp2 HG01071.hp2 others(3): Show HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01433.hp1 HG02015.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0141 a0001c0001t0003g0007 a0001c0001t0003g0013 others(3): Show a0001c0001t0001g0141 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0028g0012	6	162	0.0370	28	c.-17 others(49): Show c.-171-31114_-171-31113insACACACACACACACACACACACAC ACAT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp1 HG02004.hp2 others(9): Show HG00140.hp1 HG01346.hp1 HG02004.hp2 HG02055.hp2 HG02148.hp2 HG02615.hp2 HG02738.hp1 HG04204.hp1 NA18955.hp1 NA18977.hp2 NA18999.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0003 a0001c0002t0004 others(4): Show a0001c0001t0010 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0002t0034 a0001c0002t0049 a0001c0003t0001	a0001c0001t0010g0022 a0001c0002t0003g0174 a0001c0002t0003g0190 others(9): Show a0001c0001t0010g0022 a0001c0002t0003g0174 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0004g0045 a0001c0002t0015g0183 a0001c0002t0015g0238 a0001c0002t0034g0025 a0001c0002t0049g0186 a0001c0003t0001g0107 a0001c0003t0001g0141 a0001c0003t0001g0208	12	398	0.0302	28	c.865 others(43): Show c.865-728_865-727insATATATATATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYG2_chrX_2823930_2887818	2844474	A A	ATATATAT others(21): Show ATATATATGTGTATATGCACGCGTGTGCG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	316	0.0032	28	c.149 others(45): Show c.149+1135_149+1162dupTGCACGCGTGTGCGTATATATGTGTATA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844489	T T	TGCACGCG others(21): Show TGCACGCGCGTGCGTATATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01993.hp2 HG01123.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0173 a0001c0001t0004g0129 a0001c0001t0004g0173	2	316	0.0063	28	c.149 others(45): Show c.149+1142_149+1143insCGTGCGTATATATGTGTATACGCACGCG	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844489	T T	TGCACGCG others(21): Show TGCACGCGTGTGCGTATATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	316	0.0032	28	c.149 others(45): Show c.149+1140_149+1167dupGCGTGTGCGTATATATGTGTATACGCAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844497	T T	TGTGCGTA others(21): Show TGTGCGTATATATGTGTATACGCACACGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0269 a0002c0002t0004g0269	1	316	0.0032	28	c.149 others(45): Show c.149+1144_149+1171dupGTGCGTATATATGTGTATACGCACACGC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844498	G G	GTGCGTAT others(21): Show GTGCGTATATATGTGTATACGCACACGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03704.hp1 NA18999.hp2 HG03139.hp1 HG03704.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0003 a0002c0002t0005	a0001c0001t0003g0208 a0002c0002t0003g0207 a0002c0002t0005g0301 a0001c0001t0003g0208 a0002c0002t0003g0207 a0002c0002t0005g0301	3	316	0.0095	28	c.149 others(45): Show c.149+1182_149+1209dupATGTGTATACGCACACGCATGCGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMK_chr5_55019256_55039570	55022321	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	464	0.0022	28	c.-20 others(39): Show c.-2002_-2001insCACACACACACACACACACACACACACA	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1934		chr5	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02723.hp2 HG00544.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0079 a0001c0001t0001g0081	2	422	0.0047	28	c.-46 others(39): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG01978.hp1 others(31): Show HG00558.hp1 HG01255.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02165.hp1 HG02965.hp1 HG03098.hp2 HG03710.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA18995.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp2 NA19079.hp2 NA19090.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0010 others(1): Show a0001c0001 a0001c0003 a0004c0010 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0004c0010t0002 a0005c0007t0001 a0005c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0027 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0003g0001 a0001c0001t0003g0038 a0001c0003t0001g0001 a0004c0010t0002g0108 a0005c0007t0001g0099 a0005c0007t0003g0001	34	422	0.0806	28	c.-46 others(39): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	2	422	0.0047	28	c.-46 others(39): Show c.-4694_-4693insCCTCCCTCCCTCCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01346.hp1 HG01993.hp2 others(22): Show HG00597.hp2 HG01346.hp1 HG01993.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG03942.hp2 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18983.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0002c0002 a0005c0018 others(2): Show a0001c0001 a0002c0002 a0005c0018 a0006c0009 a0008c0015	a0001c0001t0001 a0002c0002t0001 a0005c0018t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0005c0018t0001 a0006c0009t0001 a0008c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0002c0002t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0049 a0002c0002t0001g0078 a0002c0002t0001g0095 a0005c0018t0001g0008 a0006c0009t0001g0008 a0008c0015t0001g0003	25	422	0.0592	28	c.-46 others(39): Show c.-4694_-4693insCCTCCCTCCCTTCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(21): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0101 a0003c0004t0001g0101	1	422	0.0024	28	c.-46 others(39): Show c.-4694_-4693insCCTCCCTTCCTTCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AB2_chrX_155375709_155386299	155384120	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	229	0.0044	28	c.29 others(39): Show c.2986_*2987insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	H2AB2	ENSG00000277858.2	transcript	ENST00000354514.6	protein_coding		2822		chrX	TogoVar
H2AB3_chrX_155454415_155465005	155464743	A A	AAGAAAGT others(21): Show AAGAAAGTGCTGTAGGAACACATAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	214	0.0047	28	c.-48 others(39): Show c.-4817_-4816insCCTCTTATGTGTTCCTACAGCACTTTCT	H2AB3	ENSG00000277745.1	transcript	ENST00000615853.1	protein_coding		4739		chrX	TogoVar
H2AC4_chr6_26028092_26038618	26031152	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01106.hp2 others(24): Show HG00323.hp1 HG00558.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01884.hp1 HG02155.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA18954.hp1 NA18982.hp2 NA19056.hp1 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0002t0001g0000 a0001c0002t0006g0000	27	406	0.0665	28	c.20 others(39): Show c.2023_*2024insTATATATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar

Search by Variant

Search

Search Results