Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(25): Show GCTTGCTTGCTTGCTTGCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0176 a0002c0006t0004g0176	1	192	0.0052	32	c.-14 others(43): Show c.-1491_-1490insAAAGAAAGAAAGAAAGCAAGCAAGCAAGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(25): Show GCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0022 a0001c0017t0022	a0001c0017t0022g0002 a0001c0017t0022g0002	1	192	0.0052	32	c.-14 others(43): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GARIN2_chr14_67184440_67228940	67192822	G G	GTACAGAT others(25): Show GTACAGATCTATATATATATCTATATATAGATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	332	0.0030	32	c.-11 others(51): Show c.-114+3261_-114+3292dupCTATATATATATCTATATATAGATAT ACAGAT	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50478110	C C	CCCCAGCA others(25): Show CCCCAGCATAGCGGTTCCACGCTTTGCAAGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	414	0.0024	32	c.-17 others(43): Show c.-1723_-1722insATACTTGCAAAGCGTGGAACCGCTATGCTGGG	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding		1263		chr19	TogoVar
GAS2_chr11_22661611_22818001	22789303	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	272	0.0037	32	c.724 others(51): Show c.724-22494_724-22493insTATATATATATATATATATATATACA CACACA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(25): Show GATATATATAAATATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02602.hp1 HG03927.hp2 others(3): Show HG01433.hp1 HG02602.hp1 HG03927.hp2 NA18960.hp1 NA18995.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0019g0191 a0001c0002t0001g0231 a0001c0002t0002g0032 others(3): Show a0001c0001t0019g0191 a0001c0002t0001g0231 a0001c0002t0002g0032 a0001c0002t0002g0094 a0001c0002t0002g0149 a0001c0002t0004g0022	6	272	0.0221	32	c.724 others(51): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113824385	C C	CGGGGTCT others(25): Show CGGGGTCTGGGGTCTGAGCTGTCGGGAGCACCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	143	0.0070	32	c.147 others(49): Show c.1478-836_1478-835insAGGTGCTCCCGACAGCTCAGACCCCAGA CCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113836447	A A	AGGAGGAG others(25): Show AGGAGGAGGACGGAGGGGGAGGAGGACGGAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0008 a0001c0015t0001g0008	1	143	0.0070	32	c.590 others(47): Show c.590-844_590-813dupCCCTCCGTCCTCCTCCCCCTCCGTCCTCCT CC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS7_chr17_9905606_10203606	10005084	T T	TGTGCGTG others(25): Show TGTGCGTGTGCACGCATACATGCATGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0123 a0001c0001t0009g0037 a0001c0001t0003g0123 a0001c0001t0009g0037	2	218	0.0092	32	c.304 others(51): Show c.304+14692_304+14693insGCACACACATGCATGTATGCGTGCAC ACGCAC	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS8_chr16_90017680_90049960	90044762	G G	GTCCTGCA others(25): Show GTCCTGCAGTTCCAGAGCAGTCTAGGGACACCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0307 a0001c0001t0040g0307	1	390	0.0026	32	c.14 others(43): Show c.1418_*1449dupTCCTGCAGTTCCAGAGCAGTCTAGGGACACCA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	11/11	1450	INFO_REALIGN_3_PRIME	chr16	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02040.hp2 others(12): Show HG00735.hp2 HG01361.hp2 HG02040.hp2 HG02132.hp2 HG02683.hp1 HG03453.hp2 HG03491.hp2 NA18954.hp1 NA18962.hp1 NA18981.hp2 NA18982.hp1 NA18998.hp2 NA19058.hp2 NA19091.hp2 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0008c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0034 a0001c0008t0008 a0008c0027t0001	a0001c0002t0001g0026 a0001c0002t0001g0098 a0001c0002t0001g0120 others(11): Show a0001c0002t0001g0026 a0001c0002t0001g0098 a0001c0002t0001g0120 a0001c0002t0002g0059 a0001c0002t0002g0099 a0001c0002t0002g0122 a0001c0002t0006g0121 a0001c0003t0001g0266 a0001c0003t0002g0204 a0001c0004t0001g0277 a0001c0004t0034g0276 a0001c0008t0008g0144 a0001c0008t0008g0145 a0008c0027t0001g0057	15	382	0.0393	32	c.699 others(49): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01433.hp1 NA18954.hp1 others(1): Show HG00733.hp1 HG01433.hp1 NA18954.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0004g0028 a0001c0002t0001g0120 others(1): Show a0001c0001t0001g0003 a0001c0001t0004g0028 a0001c0002t0001g0120 a0001c0002t0002g0102	4	382	0.0105	32	c.-97 others(41): Show c.-978_-977insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477245	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	382	0.0026	32	c.-13 others(43): Show c.-1338_-1337insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1251		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477249	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	382	0.0026	32	c.-13 others(43): Show c.-1342_-1341insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1255		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477253	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	1	382	0.0026	32	c.-13 others(43): Show c.-1346_-1345insAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1259		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477295	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0222 a0001c0002t0003g0222	1	382	0.0026	32	c.-13 others(43): Show c.-1388_-1387insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1301		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	382	0.0026	32	c.-13 others(43): Show c.-1396_-1395insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01517.hp2 HG01346.hp1 HG01517.hp2	a0002 a0002	a0002c0006 a0002c0009 a0002c0006 a0002c0009	a0002c0006t0014 a0002c0009t0010 a0002c0006t0014 a0002c0009t0010	a0002c0006t0014g0037 a0002c0009t0010g0231 a0002c0006t0014g0037 a0002c0009t0010g0231	2	382	0.0052	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGGAGGGAGGGAGGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCCTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0156 a0001c0002t0004g0156	1	382	0.0026	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAGGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCCTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02280.hp1 HG01167.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0282 a0001c0004t0003g0283 a0001c0004t0003g0282 a0001c0004t0003g0283	2	382	0.0052	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAGGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	382	0.0026	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01361.hp1 HG02015.hp1 HG01257.hp2 HG01361.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0005 a0001c0003t0002 a0001c0011t0004 a0001c0001t0005 a0001c0003t0002 a0001c0011t0004	a0001c0001t0005g0180 a0001c0003t0002g0208 a0001c0011t0004g0292 a0001c0001t0005g0180 a0001c0003t0002g0208 a0001c0011t0004g0292	3	382	0.0079	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0278 a0001c0003t0002g0278	1	382	0.0026	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGAAGGAAGGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02129.hp2 NA19005.hp1 HG01981.hp1 HG02129.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0005 a0001c0001 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0014t0015 a0002c0005t0001 a0001c0001t0001 a0001c0014t0015 a0002c0005t0001	a0001c0001t0001g0003 a0001c0014t0015g0169 a0002c0005t0001g0246 a0001c0001t0001g0003 a0001c0014t0015g0169 a0002c0005t0001g0246	3	382	0.0079	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGGAGGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	382	0.0026	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 NA18983.hp1 HG02257.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0004t0003 a0001c0002t0006 a0001c0004t0003	a0001c0002t0006g0131 a0001c0004t0003g0281 a0001c0002t0006g0131 a0001c0004t0003g0281	2	382	0.0052	32	c.-13 others(43): Show c.-1398_-1397insGAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01975.hp1 HG01981.hp2 others(2): Show HG00735.hp1 HG01975.hp1 HG01981.hp2 HG02080.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0014t0032	a0001c0001t0001g0164 a0001c0001t0002g0008 a0001c0001t0002g0029 others(2): Show a0001c0001t0001g0164 a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0002t0002g0195 a0001c0014t0032g0168	5	382	0.0131	32	c.-13 others(43): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0011 a0003c0017t0011	a0003c0017t0011g0050 a0003c0017t0011g0050	1	382	0.0026	32	c.-13 others(43): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01975.hp2 HG02647.hp1 others(3): Show HG00621.hp1 HG01975.hp2 HG02647.hp1 HG03225.hp1 HG03239.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0204 a0001c0001t0002g0003 a0001c0001t0002g0015 others(3): Show a0001c0001t0001g0204 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0167 a0001c0001t0002g0220 a0002c0002t0002g0001	6	286	0.0210	32	c.34 others(43): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(25): Show ATGTGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18939.hp1 NA18946.hp1 others(1): Show HG02922.hp1 NA18939.hp1 NA18946.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0001g0172	4	320	0.0125	32	c.119 others(51): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA CACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01975.hp1 others(11): Show HG00438.hp1 HG01106.hp2 HG01975.hp1 HG01981.hp1 HG02132.hp1 HG02486.hp2 NA18961.hp1 NA18964.hp1 NA18994.hp2 NA19006.hp1 NA19060.hp1 NA19089.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0087 others(11): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0174	14	320	0.0438	32	c.328 others(51): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATD1_chr11_762222_782487	763204	G G	GCCCCCGC others(25): Show GCCCCCGCCCTCACCCGCCCCGCCCTCACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 NA19043.hp1 HG01123.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0136 a0001c0001t0005g0095 a0001c0001t0005g0136	2	430	0.0047	32	c.76 others(43): Show c.7692_*7693insGCGGGTGAGGGCGGGGCGGGTGAGGGCGGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4017		chr11	TogoVar
GATD1_chr11_762222_782487	763204	G G	GCCCCGCC others(25): Show GCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18985.hp2 NA18990.hp2 others(4): Show NA18947.hp2 NA18985.hp2 NA18990.hp2 NA18994.hp1 NA19004.hp1 NA19005.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0004	7	430	0.0163	32	c.76 others(43): Show c.7692_*7693insGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4017		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(25): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02027.hp1 HG02280.hp2 others(9): Show HG01243.hp1 HG02027.hp1 HG02280.hp2 HG02523.hp1 HG03130.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18939.hp2 NA18945.hp2 NA18967.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0022 a0001c0003t0004 a0001c0003t0007	a0001c0001t0001g0128 a0001c0001t0005g0015 a0001c0001t0005g0021 others(6): Show a0001c0001t0001g0128 a0001c0001t0005g0015 a0001c0001t0005g0021 a0001c0001t0005g0090 a0001c0001t0005g0140 a0001c0001t0018g0094 a0001c0001t0022g0054 a0001c0003t0004g0041 a0001c0003t0007g0012	12	430	0.0279	32	c.76 others(43): Show c.7660_*7661insATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763252	T T	TCCCCGCC others(25): Show TCCCCGCCCTCACCCGGCCCCGCCCTCACCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	430	0.0023	32	c.76 others(43): Show c.7644_*7645insGCAGGTGAGGGCGGGGCCGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3969		chr11	TogoVar
GBE1_chr3_81484703_81766645	81750539	G G	GTGTATAT others(25): Show GTGTATATATATATATGTATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0016 a0003c0003t0006g0016	1	304	0.0033	32	c.143 others(51): Show c.143+10835_143+10836insTACATATATATATATACATATATATA TATACA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750659	G G	GTATATAT others(25): Show GTATATATATATGTATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG00639.hp1 HG01256.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0003 a0010c0011t0002 a0001c0001t0003 a0010c0011t0002	a0001c0001t0003g0204 a0010c0011t0002g0236 a0001c0001t0003g0204 a0010c0011t0002g0236	2	304	0.0066	32	c.143 others(51): Show c.143+10715_143+10716insTACACATATATATATATATACATATA TATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750659	G G	GTGTATAT others(25): Show GTGTATATATATGTATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp2 NA18940.hp1 others(1): Show HG00558.hp2 HG02015.hp2 NA18940.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0224 others(1): Show a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0003g0248	4	304	0.0132	32	c.143 others(51): Show c.143+10715_143+10716insTACACATATATATATATATACATATA TATACA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GCKR_chr2_27491839_27528684	27526143	T T	TGGGGCCC others(25): Show TGGGGCCCTGCTATGTTGCTCAGGCTGGTCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	324	0.0031	32	c.27 others(43): Show c.2704_*2705insGGGGCCCTGCTATGTTGCTCAGGCTGGTCTTG	GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding		2460		chr2	TogoVar
GCNT2_chr6_10516351_10634368	10538437	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0127 a0001c0001t0019g0127	1	324	0.0031	32	c.925 others(49): Show c.925+8602_925+8603insAAAATATATATATATATATATATATATA TATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01433.hp1 others(13): Show HG00597.hp1 HG01074.hp1 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG02080.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02809.hp2 HG03927.hp1 HG03942.hp1 NA19011.hp1 NA19082.hp1 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0031 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0001g0282 a0001c0001t0002g0086 a0001c0001t0003g0229 a0001c0003t0001g0144	16	324	0.0494	32	c.925 others(51): Show c.925+39407_925+39438dupACACACACACACACACACACACACAC ACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01978.hp1 others(13): Show HG00597.hp2 HG01074.hp1 HG01978.hp1 HG02080.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02809.hp2 HG03927.hp2 HG03942.hp1 NA19011.hp2 NA19072.hp1 NA19072.hp2 NA19082.hp2 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0092 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0310 a0001c0001t0001g0340 a0001c0001t0002g0176 a0001c0001t0002g0214	16	344	0.0465	32	c.919 others(51): Show c.919+11901_919+11932dupACACACACACACACACACACACACAC ACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610240	T T	TTCCTTCC others(25): Show TTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0080 a0001c0002t0046g0080	1	428	0.0023	32	c.-19 others(43): Show c.-1992_-1991insTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCAC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1542		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610451	A A	ATCCCTCC others(25): Show ATCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(35): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG01496.hp2 HG02071.hp1 HG02074.hp1 HG02300.hp2 HG03041.hp2 NA18747.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19062.hp1 NA19068.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0031 a0001c0001t0032 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0082	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0001 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0082 a0001c0001t0010g0001 a0001c0001t0010g0008 a0001c0001t0016g0008 a0001c0001t0018g0001 a0001c0001t0031g0008 a0001c0001t0031g0079 a0001c0001t0032g0001 a0001c0001t0059g0036 a0001c0001t0060g0037 a0001c0001t0064g0036 a0001c0001t0082g0001	38	428	0.0888	32	c.-17 others(43): Show c.-1781_-1780insTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1331		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610998	C C	CCCCCTCC others(25): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03130.hp2 others(1): Show HG01243.hp2 HG02258.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0006g0006 a0001c0001t0001g0006 a0001c0001t0006g0006	4	428	0.0094	32	c.-12 others(43): Show c.-1234_-1233insCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		784		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	354	0.0028	32	c.21 others(43): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	392	0.0026	32	c.761 others(49): Show c.761-2521_761-2490dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp1 HG02293.hp2 others(1): Show HG01934.hp1 HG01943.hp1 HG02293.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0296 a0001c0001t0007g0237 a0001c0001t0001g0005 a0001c0001t0001g0296 a0001c0001t0007g0237	4	312	0.0128	32	c.212 others(49): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0075	1	412	0.0024	32	c.128 others(47): Show c.128+547_128+548insATATATATATATATTTTTTTTTTTTTTTTT TT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778260	A A	ATGTGTGT others(25): Show ATGTGTGTACATATATGTATACACACACACATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0094 a0010c0010t0002g0094	1	318	0.0031	32	c.126 others(49): Show c.1264+217_1264+218insCACACACACATGTGTGTGTACATATATG TATA	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)