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
SCNN1D_chr1_1275436_1297025	1288511	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	242	0.0041	22	c.166 others(39): Show c.1662+477_1662+478insCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288663	T T	TCCCCCGT others(15): Show TCCCCCGTGTCCCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	249	0.0040	22	c.166 others(39): Show c.1662+629_1662+630insCCGTGTCCCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288681	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	254	0.0039	22	c.166 others(39): Show c.1662+647_1662+648insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288737	T T	TCCCCCGT others(15): Show TCCCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0029	1	243	0.0041	22	c.166 others(39): Show c.1662+703_1662+704insCCGTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288737	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	243	0.0041	22	c.166 others(39): Show c.1662+703_1662+704insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288755	T T	TTCCCCGT others(15): Show TTCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0059 a0028c0024t0001g0059	1	244	0.0041	22	c.166 others(39): Show c.1662+718_1662+719insTCCCCGTGTCTCTGCTCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288849	T T	TCCCCCGT others(15): Show TCCCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	240	0.0042	22	c.166 others(39): Show c.1662+815_1662+816insCCGTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288867	T T	TTCCCCGT others(15): Show TTCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0059 a0028c0024t0001g0059	1	251	0.0040	22	c.166 others(39): Show c.1662+830_1662+831insTCCCCGTGTCTCTGCTCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288961	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0049 a0018c0029t0001g0049	1	245	0.0041	22	c.166 others(39): Show c.1662+927_1662+928insCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289129	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0273 a0006c0015t0008g0274 a0006c0015t0008g0273 a0006c0015t0008g0274	2	252	0.0079	22	c.166 others(41): Show c.1662+1095_1662+1096insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289515	G G	GTCTCTGC others(15): Show GTCTCTGCTCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0281 a0005c0017t0001g0281	1	109	0.0092	22	c.166 others(39): Show c.1663-753_1663-752insCTGCTCCGTCCCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289543	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0134 a0003c0004t0003g0134	1	230	0.0043	22	c.166 others(39): Show c.1663-725_1663-724insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289890	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0073 a0007c0006t0001g0073	1	267	0.0037	22	c.166 others(39): Show c.1663-378_1663-377insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289908	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0033 a0002c0003t0002g0033	1	264	0.0038	22	c.166 others(39): Show c.1663-360_1663-359insCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTCTGC others(15): Show GTCTCTGCTCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	130	0.0077	22	c.166 others(39): Show c.1663-296_1663-295insCTGCTCCGTCCCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290036	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	250	0.0040	22	c.166 others(39): Show c.1663-232_1663-231insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02083.hp2 HG02809.hp2 others(1): Show HG02015.hp2 HG02083.hp2 HG02809.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0003t0002g0163 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0003t0002g0163 a0001c0003t0002g0240	4	58	0.0690	22	c.-22 others(33): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCP2_chr1_52922276_53056698	52945744	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03486.hp1 HG01175.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0001 a0001c0003t0008	a0001c0003t0001g0168 a0001c0003t0008g0032 a0001c0003t0001g0168 a0001c0003t0008g0032	2	259	0.0077	22	c.128 others(39): Show c.128-2249_128-2248insATATATATATATATATATATAT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173399465	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01993.hp1 HG02129.hp2 others(5): Show HG01081.hp1 HG01993.hp1 HG02129.hp2 HG02886.hp2 HG03195.hp2 NA18969.hp2 NA18983.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0004 a0001c0001t0003g0010 a0001c0001t0003g0014 others(4): Show a0001c0001t0001g0004 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0011g0175 a0001c0001t0016g0173 a0001c0001t0019g0087 a0001c0001t0019g0089	8	30	0.2667	22	c.-43 others(31): Show c.-434_-413dupACACACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		350		chr4	TogoVar
SCRN1_chr7_29915109_29994801	29966159	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 NA18986.hp1 HG02647.hp2 HG03139.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0020 a0002c0002t0006 a0001c0001t0012 a0001c0001t0020 a0002c0002t0006	a0001c0001t0012g0217 a0001c0001t0020g0145 a0002c0002t0006g0225 a0001c0001t0012g0217 a0001c0001t0020g0145 a0002c0002t0006g0225	3	34	0.0882	22	c.159 others(39): Show c.159+2728_159+2749dupCTCTCTCTCTCTCTCTCTCTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCRN1_chr7_29915109_29994801	29990389	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	194	0.0052	22	c.-75 others(31): Show c.-750_-749insCACACACACACACACACACACA	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding		589		chr7	TogoVar
SCRT2_chr20_656596_680802	663662	G G	GCGGAAGG others(15): Show GCGGAAGGCTCAGCTGGCCGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0183 a0001c0001t0026g0183	1	456	0.0022	22	c.911 others(28): Show c.911_*8dupGCCCGGCCAGCTGAGCCTTCCG	SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	2/2	8		chr20	TogoVar
SCTR_chr2_119434843_119529483	119444204	T T	TATATACA others(15): Show TATATACATATGAATATATACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02886.hp1 others(2): Show HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0001 a0001c0004t0004	a0001c0001t0001g0146 a0001c0004t0001g0274 a0001c0004t0004g0009 others(2): Show a0001c0001t0001g0146 a0001c0004t0001g0274 a0001c0004t0004g0009 a0001c0004t0004g0033 a0001c0004t0004g0034	5	288	0.0174	22	c.114 others(41): Show c.1140+2533_1140+2554dupGTGTATATATTCATATGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444594	C C	CATATATT others(15): Show CATATATTCGTATGAATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	283	0.0035	22	c.114 others(41): Show c.1140+2164_1140+2165insATATATATTCATACGAATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444664	T T	TATATACA others(15): Show TATATACACATATATTCGTATGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02976.hp1 others(2): Show HG02280.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0146 a0001c0005t0004g0006 a0001c0005t0004g0007 others(2): Show a0001c0001t0001g0146 a0001c0005t0004g0006 a0001c0005t0004g0007 a0001c0005t0004g0036 a0001c0005t0004g0084	5	288	0.0174	22	c.114 others(41): Show c.1140+2094_1140+2095insTCATACGAATATATGTGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444802	C C	CATATATA others(15): Show CATATATACGTATGAATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	255	0.0039	22	c.114 others(41): Show c.1140+1956_1140+1957insATATATATTCATACGTATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444874	T T	TATATACA others(15): Show TATATACACATATATTCGTACGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	287	0.0035	22	c.114 others(41): Show c.1140+1863_1140+1884dupTCGTACGAATATATGTGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CATATATA others(15): Show CATATATACGTATGAATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0002 a0012c0014t0002	a0012c0014t0002g0261 a0012c0014t0002g0261	1	261	0.0038	22	c.114 others(41): Show c.1140+1878_1140+1879insATATATATTCATACGTATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	628901	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	22	c.-17 others(33): Show c.-1759_-1758insAAGAAAGAAAGAAAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1721		chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0311 a0002c0001t0003g0311	1	121	0.0083	22	c.120 others(39): Show c.1208-967_1208-966insAATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0236 a0004c0004t0007g0236	1	121	0.0083	22	c.120 others(39): Show c.1208-967_1208-966insAAAATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03834.hp1 NA19078.hp1 HG02071.hp1 HG03834.hp1 NA19078.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0004 a0001c0005 a0004c0004	a0001c0005t0009 a0004c0004t0007 a0001c0005t0009 a0004c0004t0007	a0001c0005t0009g0029 a0001c0005t0009g0030 a0004c0004t0007g0317 a0001c0005t0009g0029 a0001c0005t0009g0030 a0004c0004t0007g0317	3	123	0.0244	22	c.120 others(39): Show c.1208-967_1208-966insAAAAAATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18955.hp2 HG02083.hp1 NA18955.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0004c0004 a0001c0005 a0004c0004	a0001c0005t0009 a0004c0004t0009 a0001c0005t0009 a0004c0004t0009	a0001c0005t0009g0024 a0004c0004t0009g0314 a0001c0005t0009g0024 a0004c0004t0009g0314	2	122	0.0164	22	c.120 others(39): Show c.1208-967_1208-966insAAAAAAAAAATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SDAD1_chr4_75944915_75995945	75963254	T T	TCTGTTTT others(15): Show TCTGTTTTGGTACCAGTACCATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01109.hp1 others(43): Show HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02080.hp2 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03669.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18982.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19043.hp1 NA19090.hp1 NA19240.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0007c0012t0012	a0001c0001t0001g0021 a0001c0001t0001g0101 a0001c0001t0001g0135 others(39): Show a0001c0001t0001g0021 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0002g0008 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0156 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0004g0132 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0145 a0001c0001t0006g0134 a0001c0001t0010g0022 a0007c0012t0012g0100	46	374	0.1230	22	c.118 others(39): Show c.1181+859_1181+880dupCATGGTACTGGTACCAAAACAG	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	14/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01993.hp2 HG00558.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0236 a0001c0001t0005g0237 a0001c0001t0003g0236 a0001c0001t0005g0237	2	35	0.0571	22	c.295 others(39): Show c.295-1248_295-1227dupTTTTTTTTTTTTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75984778	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18978.hp2 NA18998.hp1 others(3): Show HG01167.hp2 NA18978.hp2 NA18998.hp1 NA19012.hp1 NA19088.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0005 a0003c0004t0007 a0003c0004t0003 a0003c0004t0005 a0003c0004t0007	a0003c0004t0003g0099 a0003c0004t0003g0115 a0003c0004t0003g0187 others(3): Show a0003c0004t0003g0099 a0003c0004t0003g0115 a0003c0004t0003g0187 a0003c0004t0005g0182 a0003c0004t0005g0188 a0003c0004t0007g0120	6	50	0.1200	22	c.91- others(37): Show c.91-2763_91-2742dupGTGTGTGTGTGTGTGTGTGTGT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	1/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	72	0.0139	22	c.-32 others(33): Show c.-3205_-3204insATATATATATATATTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0272 a0008c0016t0001g0272	1	72	0.0139	22	c.-32 others(33): Show c.-3205_-3204insATATATATATATATATATTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96540340	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03239.hp2 HG02647.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0075 a0001c0003t0002g0085 a0001c0001t0002g0075 a0001c0003t0002g0085	2	114	0.0175	22	c.60+ others(39): Show c.60+46025_60+46026insTATATATATATATATATATATA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96540340	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03831.hp1 HG01515.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0293 a0001c0001t0001g0264 a0001c0001t0001g0293	2	114	0.0175	22	c.60+ others(39): Show c.60+46010_60+46011insGTATATATATATATATATATAT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00140.hp2 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0284 a0001c0001t0004g0037 a0001c0001t0001g0284 a0001c0001t0004g0037	2	75	0.0267	22	c.61- others(39): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96576368	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0308 a0002c0002t0002g0308	1	301	0.0033	22	c.61- others(39): Show c.61-17107_61-17106insTTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294506	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG01175.hp1 HG02293.hp1 HG03516.hp2 NA18994.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0001c0001t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0058 a0002c0003t0001g0021 a0002c0003t0001g0139 others(4): Show a0001c0001t0001g0058 a0002c0003t0001g0021 a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0148 a0002c0003t0001g0158 a0002c0004t0001g0153	7	28	0.2500	22	c.675 others(39): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01106.hp1 others(9): Show HG00544.hp1 HG00621.hp1 HG01106.hp1 HG02083.hp1 HG02738.hp1 HG03704.hp1 NA18948.hp2 NA18964.hp2 NA18965.hp2 NA18973.hp1 NA18982.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0104	12	14	0.8571	22	c.-19 others(33): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF2_chr11_61425124_61451733	61434591	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG03098.hp2 others(1): Show HG02818.hp2 HG02895.hp1 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0031 a0001c0001t0003g0035	4	175	0.0229	22	c.37- others(37): Show c.37-3015_37-3014insTTTTTTTTTTTTTTTTTTTTTT	SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(65): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG02735.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0199 a0001c0001t0001g0203 others(65): Show a0001c0001t0001g0020 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0002g0008 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0140 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0195	68	103	0.6602	22	c.26 others(33): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70565183	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0114 a0002c0003t0005g0114	1	181	0.0055	22	c.-17 others(33): Show c.-1758_-1757insTTTTTTTTTTTTTTTTTTTTTT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding		1746		chr6	TogoVar
SDHAF4_chr6_70561930_70594569	70587168	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02615.hp2 HG02717.hp1 others(3): Show HG00642.hp2 HG02615.hp2 HG02717.hp1 HG03225.hp2 HG03486.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0002c0002t0004 a0002c0002t0008 others(1): Show a0001c0001t0002 a0002c0002t0004 a0002c0002t0008 a0002c0003t0005	a0001c0001t0002g0215 a0002c0002t0004g0053 a0002c0002t0008g0044 others(3): Show a0001c0001t0002g0215 a0002c0002t0004g0053 a0002c0002t0008g0044 a0002c0003t0005g0104 a0002c0003t0005g0108 a0002c0003t0005g0112	6	201	0.0299	22	c.218 others(39): Show c.218-1438_218-1417dupCACACACACACACACACACACA	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHAF4_chr6_70561930_70594569	70588842	A A	AATATATA others(15): Show AATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp2 others(20): Show HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01099.hp2 HG01243.hp1 HG02257.hp2 HG03704.hp1 HG03704.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18956.hp2 NA18962.hp2 NA18965.hp2 NA18985.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19081.hp2 NA19082.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0004 a0002c0004t0011 a0002c0004t0012 a0002c0002t0004 a0002c0004t0011 a0002c0004t0012	a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0015 others(13): Show a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0015 a0002c0002t0004g0023 a0002c0002t0004g0043 a0002c0002t0004g0046 a0002c0002t0004g0048 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0004t0011g0068 a0002c0004t0011g0078 a0002c0004t0012g0067 a0002c0004t0012g0069	23	252	0.0913	22	c.13 others(31): Show c.132_*133insATATATATATATATATATATAT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	133	INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02896.hp1 HG03540.hp1 HG02630.hp2 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0307 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0307 a0001c0001t0006g0309 a0001c0001t0006g0310	3	64	0.0469	22	c.-48 others(33): Show c.-4854_-4853insTATATATTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar

Search by Variant

Search

Search Results