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
ARPC3_chr12_110429823_110455337	110432164	G G	GATAGATC others(39): Show GATAGATCTATCTCTAGATCTAGAGATAGATCTATCTATCTAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03225.hp1 HG02630.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216	3	10	0.3000	46	c.29 others(57): Show c.2990_*2991insATATCTAGATAGATAGATCTATCTCTAGATCTAG AGATAGATCTAT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		2658		chr12	TogoVar
ARPC3_chr12_110429823_110455337	110432164	G G	GATATATC others(39): Show GATATATCTATCTCTAGATCTAGAGATAGATCTATATATCTAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	8	0.1250	46	c.29 others(57): Show c.2990_*2991insATATCTAGATATATAGATCTATCTCTAGATCTAG AGATAGATATAT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		2658		chr12	TogoVar
ARPC3_chr12_110429823_110455337	110432181	A A	ATCTAGAG others(39): Show ATCTAGAGATAGATCTATATATCTAGATATATAGATCTATCTCTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0174 a0001c0001t0001g0203	2	332	0.0060	46	c.29 others(57): Show c.2973_*2974insACTAGAGATAGATCTATATATCTAGATATATAGA TCTATCTCTAGA	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		2641		chr12	TogoVar
ARSF_chrX_3036471_3117727	3073585	A A	ATATTTAT others(39): Show ATATTTATTTTAATATAAATAAATATATAAATATTTATAAATATATT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0008 a0004c0006t0001g0009 a0004c0006t0001g0008 a0004c0006t0001g0009	2	191	0.0105	46	c.161 others(63): Show c.161+1415_161+1416insATTTTAATATAAATAAATATATAAATAT TTATAAATATATTTATTT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	295	0.0034	46	c.270 others(65): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC ACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00642.hp1 others(2): Show HG00544.hp1 HG00597.hp2 HG00642.hp1 HG01243.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0064 a0002c0002t0001g0073 a0002c0002t0001g0100 others(2): Show a0002c0002t0001g0064 a0002c0002t0001g0073 a0002c0002t0001g0100 a0002c0002t0001g0200 a0002c0011t0001g0074	5	156	0.0321	46	c.270 others(65): Show c.2701+3523_2701+3524insGTGCGCGCGCGCGCGCGCGCACGCAC ACGCGCACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	152	0.0066	46	c.270 others(65): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCACACACAC ACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18945.hp1 HG02083.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0081 a0002c0002t0001g0070 a0002c0002t0001g0081	2	210	0.0095	46	c.270 others(65): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCGCGCACGCACA CGCGCACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	130	0.0077	46	c.110 others(65): Show c.1102-6410_1102-6409insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(39): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0059 a0002c0003t0002g0059	1	137	0.0073	46	c.530 others(65): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608714	T T	TTTATACT others(39): Show TTTATACTTTATATATATATTTATATATACTTTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18966.hp1 NA18941.hp1 NA18966.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0002 a0004c0008t0003 a0002c0003t0002 a0004c0008t0003	a0002c0003t0002g0067 a0004c0008t0003g0058 a0002c0003t0002g0067 a0004c0008t0003g0058	2	195	0.0103	46	c.478 others(65): Show c.4786-1627_4786-1626insGTATATATATATATAAAGTATATATA AATATATATATAAAGTATAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASIP_chr20_34236423_34274344	34258688	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	284	0.0035	46	c.-10 others(63): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TATATATATACATACATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1405183	G G	GATGGTAG others(39): Show GATGGTAGATGATGGGTACGTAGGTAGATGGATGGATGGATGAATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00733.hp1 others(11): Show HG00323.hp2 HG00408.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG02004.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp1 HG02922.hp1 HG03195.hp1 NA18971.hp2 NA19081.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0008 a0002c0003 a0002c0013 others(4): Show a0001c0008 a0002c0003 a0002c0013 a0002c0038 a0003c0027 a0004c0007 a0005c0024	a0001c0008t0001 a0002c0003t0002 a0002c0013t0001 others(4): Show a0001c0008t0001 a0002c0003t0002 a0002c0013t0001 a0002c0038t0002 a0003c0027t0002 a0004c0007t0002 a0005c0024t0001	a0001c0008t0001g0045 a0002c0003t0002g0034 a0002c0003t0002g0035 others(11): Show a0001c0008t0001g0045 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0003t0002g0129 a0002c0013t0001g0180 a0002c0038t0002g0071 a0003c0027t0002g0027 a0004c0007t0002g0072 a0005c0024t0001g0178	14	183	0.0765	46	c.164 others(65): Show c.1646-1695_1646-1694insGTATTCATCCATCCATCCATCTACCT ACGTACCCATCATCTACCAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASPSCR1_chr17_81972629_82022406	82021172	C C	CTAAGATG others(39): Show CTAAGATGCAGATGGTGAAGAATGTTCCCCAGCAGCGGGCAGCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	364	0.0027	46	c.38 others(57): Show c.3850_*3851insTAAGATGCAGATGGTGAAGAATGTTCCCCAGCAG CGGGCAGCAGGG	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding		3767		chr17	TogoVar
ASTN2_chr9_116418112_117420057	116632194	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	71	0.0141	46	c.307 others(67): Show c.3073-11752_3073-11751insTTTTCTTTCTTTCTTTCTCTCTCT CCCTCTCTCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp1 HG02559.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0070 a0001c0003t0006g0017 a0001c0001t0002g0070 a0001c0003t0006g0017	2	7	0.2857	46	c.159 others(65): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016612	A A	ATGTTACA others(39): Show ATGTTACATATATATAGGTTATATATATATGTTACATATATATAGGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	98	0.0102	46	c.142 others(65): Show c.1424-8354_1424-8353insACCTATATATATGTAACATATATATA TAACCTATATATATGTAACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	33	0.0303	46	c.127 others(65): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03239.hp2 HG02602.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0216 a0002c0002t0003g0135 a0001c0001t0002g0216 a0002c0002t0003g0135	2	102	0.0196	46	c.55- others(61): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA TATATATATATATATA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(39): Show GTTTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18999.hp2 NA20300.hp2 HG02486.hp2 NA18999.hp2 NA20300.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0005 a0002c0002 a0016c0019 a0001c0005 a0002c0002 a0016c0019	a0001c0005t0020 a0002c0002t0004 a0016c0019t0034 a0001c0005t0020 a0002c0002t0004 a0016c0019t0034	a0001c0005t0020g0062 a0002c0002t0004g0120 a0016c0019t0034g0003 a0001c0005t0020g0062 a0002c0002t0004g0120 a0016c0019t0034g0003	3	103	0.0291	46	c.55- others(61): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT ATATATATATATATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19079.hp2 HG02083.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0091 a0001c0001t0003g0073 a0001c0001t0003g0091	2	145	0.0138	46	c.163 others(63): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(39): Show AAGGAAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0132 a0002c0003t0003g0132	1	175	0.0057	46	c.66 others(57): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCT TCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	190	0.0053	46	c.902 others(63): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	47	0.0213	46	c.320 others(63): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATF1_chr12_50759101_50826162	50823528	T T	TTATATAT others(39): Show TTATATATATAATCTATATTATATATAATTATATTATATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	262	0.0038	46	c.37 others(57): Show c.3749_*3750insTATATATATAATCTATATTATATATAATTATATT ATATATATATAG	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2367		chr12	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	150	0.0133	46	c.108 others(63): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTTCTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG12_chr5_115823200_115846565	115846128	T T	TCCCCCCC others(39): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCACCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	400	0.0025	46	c.-45 others(57): Show c.-4577_-4576insGTTGGTGGGTGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGG	ATG12	ENSG00000145782.13	transcript	ENST00000509910.2	protein_coding		4564		chr5	TogoVar
ATL2_chr2_38288954_38382273	38289349	T T	TCAAAAGC others(39): Show TCAAAAGCTGATGAAAGAACAGGGAACATTATGAAGTCTCATAATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	234	0.0043	46	c.66 others(57): Show c.6644_*6645insTGATTATGAGACTTCATAATGTTCCCTGTTCTTT CATCAGCTTTTG	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding		4604		chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	28	0.0357	46	c.363 others(63): Show c.363+5781_363+5782insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653483	A A	ACATATAT others(39): Show ACATATATATTACATATACATATATACATATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	221	0.0045	46	c.676 others(63): Show c.676-4228_676-4227insATATATGTATATGTATATATGTATATAT GTATATGTAATATATATG	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(39): Show TCCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0070 a0001c0006t0001g0070	1	143	0.0070	46	c.163 others(61): Show c.163-912_163-911insCTCCTTCACCTCCCTCCCTGCCATCCCCTC TCTGCCCTCCTTCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A4_chr3_193393967_193559895	193531340	G G	GAAAGGAA others(39): Show GAAAGGAAGGAAGGAAGGAAGAGAGGAAGGAAGGAAGAGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02155.hp1 HG02572.hp1 others(5): Show HG01346.hp1 HG02155.hp1 HG02572.hp1 HG03195.hp1 NA19009.hp2 NA19043.hp1 NA19068.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0024 a0002c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0024 a0002c0003t0001 a0002c0003t0005	a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0024g0127 others(5): Show a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0024g0127 a0002c0003t0001g0022 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0005g0128	8	246	0.0325	46	c.61- others(63): Show c.61-16470_61-16469insTCCTTCCTCTCTTCCTTCCTTCCTCTCT TCCTTCCTTCCTTCCTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29			chr3	TogoVar
ATP2A3_chr17_3918873_3969437	3958773	T T	TACACATA others(39): Show TACACATATATATACACACATATATATACACACACATATATATACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0109 a0001c0005t0004g0109	1	246	0.0041	46	c.119 others(63): Show c.119-5064_119-5063insGTGTATATATATGTGTGTGTATATATAT GTGTGTATATATATGTGT	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	1/20			chr17	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAGGA others(39): Show AAGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0064 a0001c0001t0019g0064	1	2	0.5000	46	c.42 others(57): Show c.4283_*4284insAGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP4B_chr13_113643804_113663198	113653218	T T	TGCTTCAC others(39): Show TGCTTCACACCTCACCCACCCGCCGCTTCACACCTCACCCACCCGCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18980.hp1 NA19064.hp2 NA18957.hp1 NA18980.hp1 NA19064.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0046 a0002c0006t0002g0130 a0002c0006t0002g0046 a0002c0006t0002g0130	3	446	0.0067	46	c.355 others(60): Show c.355+57_355+102dupGGCGGGTGGGTGAGGTGTGAAGCGGCGGGTG GGTGAGGTGTGAAGC	ATP4B	ENSG00000186009.5	transcript	ENST00000335288.5	protein_coding	3/6			chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718677	G G	GGGGTGCA others(39): Show GGGGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00673.hp1 others(40): Show HG00438.hp2 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01123.hp2 HG01243.hp1 HG01884.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG03209.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19010.hp2 NA19066.hp1 NA19066.hp2 NA19082.hp1 NA19085.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0007 others(11): Show a0001c0001 a0001c0005 a0001c0007 a0001c0020 a0001c0035 a0002c0002 a0002c0003 a0002c0046 a0003c0004 a0003c0022 a0004c0018 a0005c0006 a0006c0009 a0007c0017	a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 a0001c0007t0001 a0001c0020t0007 a0001c0035t0001 a0002c0002t0001 a0002c0003t0001 a0002c0046t0001 a0003c0004t0001 a0003c0022t0001 a0003c0022t0003 a0004c0018t0001 a0005c0006t0001 a0006c0009t0001 a0007c0017t0001	a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0121 others(40): Show a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0261 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0007g0374 a0001c0005t0001g0120 a0001c0007t0001g0053 a0001c0007t0001g0150 a0001c0007t0001g0244 a0001c0007t0001g0317 a0001c0020t0007g0373 a0001c0035t0001g0025 a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0110 a0002c0002t0001g0133 a0002c0002t0001g0237 a0002c0002t0001g0351 a0002c0003t0001g0010 a0002c0003t0001g0014 a0002c0003t0001g0173 a0002c0003t0001g0315 a0002c0003t0001g0328 a0002c0046t0001g0367 a0003c0004t0001g0135 a0003c0022t0001g0278 a0003c0022t0003g0211 a0004c0018t0001g0268 a0005c0006t0001g0009 a0005c0006t0001g0051 a0005c0006t0001g0052 a0005c0006t0001g0264 a0005c0006t0001g0290 a0005c0006t0001g0291 a0005c0006t0001g0292 a0005c0006t0001g0308 a0005c0006t0001g0309 a0005c0006t0001g0332 a0006c0009t0001g0217 a0007c0017t0001g0353	43	349	0.1232	46	c.214 others(65): Show c.2140-2797_2140-2796insATTCCTTCCTGGACGTCTCCCTCCGC AGACATCCGTGACTGCACCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18942.hp2 NA18957.hp1 others(1): Show HG02897.hp1 NA18942.hp2 NA18957.hp1 NA19002.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0015 a0005c0006 a0002c0003 a0004c0015 a0005c0006	a0002c0003t0001 a0004c0015t0001 a0005c0006t0001 a0002c0003t0001 a0004c0015t0001 a0005c0006t0001	a0002c0003t0001g0191 a0002c0003t0001g0315 a0004c0015t0001g0358 others(1): Show a0002c0003t0001g0191 a0002c0003t0001g0315 a0004c0015t0001g0358 a0005c0006t0001g0009	4	116	0.0345	46	c.157 others(65): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V1D_chr14_67332872_67364804	67359910	C C	CAGGCGCG others(39): Show CAGGCGCGCGCACCGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	346	0.0029	46	c.-21 others(55): Show c.-213_-212insTCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCGGT GCGCGCGCCT	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding		107		chr14	TogoVar
ATP8A2_chr13_25366974_26030851	25528724	A A	ATATGCAT others(39): Show ATATGCATACATATGCAACATGTGTATGCATACATATGCAACATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG03041.hp2 HG00642.hp1 HG00741.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0001 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0036 a0001c0001t0011g0061 a0001c0001t0013g0006 a0001c0001t0001g0036 a0001c0001t0011g0061 a0001c0001t0013g0006	3	115	0.0261	46	c.222 others(63): Show c.222-1257_222-1256insATGTGTATGCATACATATGCAACATGTG TATGCATACATATGCAAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25528743	T T	TTGTGTAT others(39): Show TTGTGTATGCATACATATGCAACATGTGTATGCATACATATGCAACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG03130.hp2 HG02055.hp1 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0062 a0001c0007t0001 a0001c0007t0005 a0001c0003t0062 a0001c0007t0001 a0001c0007t0005	a0001c0003t0062g0024 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0003t0062g0024 a0001c0007t0001g0081 a0001c0007t0005g0021	3	96	0.0313	46	c.222 others(63): Show c.222-1223_222-1222insTACATATGCAACATGTGTATGCATACAT ATGCAACATGTGTATGCA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	2	0.5000	46	c.119 others(63): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79356958	A A	ATGCTCTG others(39): Show ATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCCGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0011 a0012 a0011 a0012	a0011c0030 a0012c0023 a0011c0030 a0012c0023	a0011c0030t0001 a0012c0023t0001 a0011c0030t0001 a0012c0023t0001	a0011c0030t0001g0253 a0012c0023t0001g0042 a0011c0030t0001g0253 a0012c0023t0001g0042	2	187	0.0107	46	c.290 others(65): Show c.2904-2365_2904-2364insACCCCGTGTGAGGGGTGCTCTGGGTC TGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79356958	A A	ATGCTCTG others(39): Show ATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	186	0.0054	46	c.290 others(65): Show c.2904-2365_2904-2364insACCCTGTGTGAGGGGTGCTCTGGGTC TGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79356990	G G	GTGTCCTG others(39): Show GTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(8): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2 NA18940.hp2 NA18960.hp2 NA18980.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0005 a0002c0032 others(1): Show a0001c0001 a0002c0005 a0002c0032 a0005c0009	a0001c0001t0001 a0002c0005t0001 a0002c0032t0005 others(1): Show a0001c0001t0001 a0002c0005t0001 a0002c0032t0005 a0005c0009t0005	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0002c0005t0001g0188 a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	11	296	0.0372	46	c.290 others(65): Show c.2904-2362_2904-2361insTCCTGGGTCTGGAGGTGTCCGTGTGA GGGACCCTGTGTGAGGGATG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357036	G G	GTGCTCTG others(39): Show GTGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0090 a0002c0005t0001g0187 a0001c0001t0001g0090 a0002c0005t0001g0187	2	295	0.0068	46	c.290 others(65): Show c.2904-2297_2904-2296insCGTGTGAGGGACCCTGTGTGAGGGAT GCTCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357180	T T	TCTGTGTG others(39): Show TCTGTGTGAGGGGTGTCCTGGGTCTAGAGGTGTCCGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	296	0.0034	46	c.290 others(65): Show c.2904-2160_2904-2159insTCCTGGGTCTAGAGGTGTCCGTGTGA GGGACCCTGTGTGAGGGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357214	C C	CGTGTGAG others(39): Show CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18960.hp2 NA18980.hp1 HG02155.hp2 NA18960.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014	3	283	0.0106	46	c.290 others(65): Show c.2904-2117_2904-2116insATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357274	C C	CCTGGGTC others(39): Show CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	296	0.0034	46	c.290 others(65): Show c.2904-2039_2904-2038insATGCTCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357292	C C	CGTGTGAG others(39): Show CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0188 a0002c0005t0001g0188	1	280	0.0036	46	c.290 others(65): Show c.2904-2039_2904-2038insATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357292	C C	CGTGTGAG others(39): Show CGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	280	0.0036	46	c.290 others(65): Show c.2904-2035_2904-2034insCCTGGGTCTGGAGGTGTCTGTGTGAG GGACCCTGTGTGAGGGGTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results