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
STK39_chr2_167949022_168252595	168018538	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0136 a0002c0002t0007g0136	1	270	0.0037	32	c.137 others(51): Show c.1377-1475_1377-1444dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	14/17			chr2	TogoVar
STK39_chr2_167949022_168252595	168139408	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	270	0.0037	32	c.840 others(47): Show c.840+880_840+881insTATATATATATATATATATATATATATATA TA	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	7/17			chr2	TogoVar
STK4_chr20_44961512_45085021	45062989	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0122 a0001c0001t0015g0122	1	328	0.0031	32	c.130 others(53): Show c.1306-11999_1306-11998insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STN1_chr10_103872569_103923184	103875859	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01952.hp1 HG01978.hp1 others(3): Show HG00738.hp2 HG01952.hp1 HG01978.hp1 HG03098.hp2 NA18948.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0022	a0001c0001t0003g0062 a0001c0001t0005g0324 a0001c0001t0005g0328 others(3): Show a0001c0001t0003g0062 a0001c0001t0005g0324 a0001c0001t0005g0328 a0001c0001t0005g0334 a0001c0001t0016g0331 a0001c0001t0022g0187	6	382	0.0157	32	c.68 others(43): Show c.6824_*6825insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding		1709		chr10	TogoVar
STOML3_chr13_38960925_38995831	38988629	T T	TTATATTT others(25): Show TTATATTTTATATCATATATTTTATATATAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02257.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0248 a0001c0001t0007g0247 a0001c0001t0007g0248	2	396	0.0051	32	c.52+ others(47): Show c.52+2040_52+2041insTATTATATATAAAATATATGATATAAAATA TA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38994790	C C	CTAATAAG others(25): Show CTAATAAGTAAACAGGGTGTTCAGGAAGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	396	0.0025	32	c.-40 others(43): Show c.-4070_-4069insCACCACTTCCTGAACACCCTGTTTACTTATTA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding		3960		chr13	TogoVar
STOM_chr9_121333987_121375250	121357424	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG01099.hp2 others(16): Show HG00140.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG02055.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp1 NA18939.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0153 a0001c0001t0001g0162 others(14): Show a0001c0001t0001g0080 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0194 a0001c0001t0001g0268 a0001c0001t0003g0044 a0001c0001t0003g0205 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0229 a0001c0001t0003g0240 a0001c0001t0004g0049 a0001c0001t0004g0195 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0258	19	386	0.0492	32	c.62- others(47): Show c.62-1269_62-1268insATATATATATATATATATATATATATATAT AT	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STOM_chr9_121333987_121375250	121357437	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG02559.hp2 others(2): Show HG00621.hp1 HG01081.hp1 HG02559.hp2 HG03041.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0215 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0004g0254	5	386	0.0130	32	c.62- others(47): Show c.62-1282_62-1281insAATATATATATATATATATATATATATATA TA	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STOM_chr9_121333987_121375250	121357437	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	386	0.0026	32	c.62- others(47): Show c.62-1282_62-1281insAATAAATATATATATATATATATATATATA TA	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STPG2_chr4_97553872_98148476	97703553	C C	CTATATAT others(25): Show CTATATATACTATTATATTTAGTATATATAGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01071.hp1 others(5): Show HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG02155.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0002 a0001c0002t0001 a0004c0005t0002	a0001c0002t0001g0112 a0001c0002t0001g0215 a0001c0002t0001g0222 others(5): Show a0001c0002t0001g0112 a0001c0002t0001g0215 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0228 a0004c0005t0002g0072	8	266	0.0301	32	c.132 others(51): Show c.1320+9114_1320+9145dupTACTATATATACTAAATATAATAGTA TATATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(25): Show CACACACACACACATACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02165.hp1 HG03130.hp2 others(1): Show HG02083.hp2 HG02165.hp1 HG03130.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0144 a0001c0001t0001g0224 a0002c0002t0001g0329 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0224 a0002c0002t0001g0329 a0002c0002t0001g0337	4	352	0.0114	32	c.21 others(43): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTATGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(25): Show CACACACACACACACACACAGAGTGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	352	0.0028	32	c.19 others(43): Show c.1977_*1978insCTCTCTCTCACTCTGTGTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(25): Show CACACACACACACACAGAGTGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02155.hp2 HG03239.hp1 others(1): Show HG01257.hp1 HG02155.hp2 HG03239.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0212 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0212 a0001c0001t0001g0240 a0001c0001t0001g0251	4	352	0.0114	32	c.19 others(43): Show c.1977_*1978insCTCTCTCTCTCTCACTCTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(25): Show TATATATATATATATATATATATACATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	324	0.0031	32	c.-45 others(49): Show c.-45+1633_-45+1634insGTGTATATGTATATATATATATATATAT ATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	236	0.0042	32	c.-16 others(53): Show c.-164-16437_-164-16436insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STRIT1_chr3_155285227_155298683	155298036	A A	AAAAAGAA others(25): Show AAAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0042 a0001c0001t0016g0042	1	444	0.0023	32	c.-44 others(43): Show c.-4405_-4404insCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4354		chr3	TogoVar
STRIT1_chr3_155285227_155298683	155298074	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	444	0.0023	32	c.-44 others(43): Show c.-4443_-4442insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4392		chr3	TogoVar
STRIT1_chr3_155285227_155298683	155298078	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02148.hp2 NA19066.hp1 HG00408.hp2 HG02148.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	444	0.0068	32	c.-44 others(43): Show c.-4447_-4446insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4396		chr3	TogoVar
STRN_chr2_36832698_36971536	36963845	T T	TACTTGGG others(25): Show TACTTGGGAGGCTGAGGCAGAAGGATTGCTTAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0049 a0001c0001t0187g0049	1	302	0.0033	32	c.234 others(49): Show c.234+2353_234+2384dupTTAAGCAATCCTTCTGCCTCAGCCTCCC AAGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STX18_chr4_4413968_4547048	4527792	A A	ATATATAT others(25): Show ATATATATATATGTTTTTATATATATATAATTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03225.hp1 NA18522.hp1 HG01255.hp2 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0008 a0001c0001t0002 a0001c0006t0008	a0001c0001t0002g0059 a0001c0006t0008g0232 a0001c0006t0008g0233 a0001c0001t0002g0059 a0001c0006t0008g0232 a0001c0006t0008g0233	3	246	0.0122	32	c.168 others(51): Show c.168+13973_168+14004dupAAATTATATATATATAAAAACATATA TATATA	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0019 a0002c0002t0002 a0002c0002t0019	a0002c0002t0002g0065 a0002c0002t0019g0350 a0002c0002t0002g0065 a0002c0002t0019g0350	2	380	0.0053	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATTTTTTTTTTTTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	380	0.0026	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATATTTTTTTTTTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	380	0.0026	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATATATTTTTTTTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp2 NA18954.hp1 HG02976.hp2 HG03579.hp2 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0030 a0002c0002t0002 a0002c0002t0030	a0002c0002t0002g0107 a0002c0002t0002g0320 a0002c0002t0030g0348 a0002c0002t0002g0107 a0002c0002t0002g0320 a0002c0002t0030g0348	3	380	0.0079	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATATATATATATTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(25): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA20752.hp1 HG00323.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0280 a0001c0001t0001g0281	2	350	0.0057	32	c.-35 others(41): Show c.-356_-355insGAGGAGAGAGAGGAGAGAGAGAGAGAGATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771710	T T	TATATATG others(25): Show TATATATGATATCTATCTATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01993.hp1 others(1): Show HG00621.hp1 HG00673.hp1 HG01993.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0045 a0001c0001t0002g0081 a0001c0001t0002g0082 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0005g0200	4	334	0.0120	32	c.439 others(47): Show c.439-932_439-931insCATATATAAATATATGATATCTATCTATAT AT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771727	T T	TATATATC others(25): Show TATATATCATATATAAATATATATGATATATAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	334	0.0030	32	c.439 others(47): Show c.439-932_439-931insCATATATAAATATATATGATATATAGATAT AT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771737	A A	ATATAAAT others(25): Show ATATAAATATATATGATATCTATCTATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01981.hp1 HG02300.hp2 HG00280.hp1 HG01981.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308	3	334	0.0090	32	c.439 others(47): Show c.439-924_439-923insAATATATATGATATCTATCTATATATATTA TA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0179 a0003c0005t0015g0179	1	350	0.0029	32	c.248 others(49): Show c.248+7410_248+7411insTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STYXL1_chr7_75991342_76053000	75999943	G G	GCCCCCCC others(25): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0272 a0001c0003t0001g0272	1	356	0.0028	32	c.810 others(47): Show c.810+946_810+947insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76005872	A A	AGAGGAGG others(25): Show AGAGGAGGAAGAGAGAGGAGGAGAGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	356	0.0028	32	c.454 others(47): Show c.454-469_454-468insCTCCTCCTCTCTCCTCCTCTCTCTTCCTCC TC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	5/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	358	0.0028	32	c.131 others(49): Show c.1318-320_1318-319insTATATATATATATATATATATATATATA TATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02040.hp2 NA19064.hp1 HG01099.hp2 HG02040.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	310	0.0097	32	c.13 others(45): Show c.13967_*13968insACACACACACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SUN2_chr22_38729734_38760998	38731010	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	32	c.52 others(43): Show c.5225_*5256dupCACACACACACACACACACACACACACACACA	SUN2	ENSG00000100242.16	transcript	ENST00000689035.1	protein_coding		3723		chr22	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	422	0.0024	32	c.-14 others(43): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24357596	T T	TCCAATTT others(25): Show TCCAATTTGTAAGTGAAGAAACAGGCACACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0000 a0007c0019t0001g0000	1	316	0.0032	32	c.-51 others(43): Show c.-5165_-5164insCCAATTTGTAAGTGAAGAAACAGGCACACAAA	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		3042		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(25): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	262	0.0038	32	c.912 others(49): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTTTATTTA TTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATAT others(25): Show ATATATATATATATATATATATATAATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04199.hp2 HG02109.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0009g0056 a0001c0001t0009g0057	2	262	0.0076	32	c.102 others(51): Show c.102-52293_102-52292insAAAAAAATTATATATATATATATATA TATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(25): Show GCCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03453.hp2 HG04204.hp1 others(1): Show HG00621.hp2 HG03453.hp2 HG04204.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0091	4	262	0.0153	32	c.102 others(53): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230686	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	262	0.0038	32	c.102 others(53): Show c.102-124681_102-124680insAAAATATATATATATATATATATA TATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00642.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0204 a0001c0001t0001g0210	2	262	0.0076	32	c.101 others(53): Show c.101+111352_101+111353insATATATATATATATATATATATAT ATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253872	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	262	0.0038	32	c.101 others(53): Show c.101+111328_101+111329insGTATATATATATATATATATATAT ATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18941.hp1 NA18982.hp1 HG03225.hp2 NA18941.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0158 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0001t0002g0158 a0001c0003t0001g0156 a0001c0003t0001g0157	3	236	0.0127	32	c.-32 others(49): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SURF6_chr9_133323776_133341188	133333952	T T	TGGGGGGG others(25): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	410	0.0024	32	c.305 others(47): Show c.305-147_305-146insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	SURF6	ENSG00000148296.7	transcript	ENST00000372022.6	protein_coding	2/4			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165942	G G	GAAAGAAG others(25): Show GAAAGAAGAAAGAAAGAAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	338	0.0030	32	c.104 others(49): Show c.104-8330_104-8329insTCTTTCTTTCTTCCTTTCTTTCTTTCTT CTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165942	G G	GAAAGAAG others(25): Show GAAAGAAGAAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	338	0.0030	32	c.104 others(49): Show c.104-8330_104-8329insTCTTTCTTTCTTTCTTTCTTCCTTTCTT CTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268011	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0107 a0006c0013t0001g0107	1	276	0.0036	32	c.535 others(47): Show c.535+490_535+491insTATATATATATATATATATATATATATATA TA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD4_chr1_223215831_223369176	223268013	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18965.hp2 NA18987.hp1 others(1): Show NA18612.hp2 NA18965.hp2 NA18987.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0102 a0001c0001t0001g0106	4	276	0.0145	32	c.535 others(47): Show c.535+488_535+489insTATATATATATATATATATATATATATATA TA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUZ12_chr17_31932007_32006038	31957895	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	280	0.0036	32	c.456 others(49): Show c.456-8227_456-8226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SV2C_chr5_76078383_76338956	76197707	C C	CAGATAGA others(25): Show CAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01891.hp1 others(11): Show HG00735.hp2 HG01074.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp2 HG03209.hp1 HG03704.hp1 HG04199.hp1 NA18952.hp2 NA18975.hp1 NA19001.hp1 NA19001.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0005	a0001c0001t0023 a0001c0001t0048 a0001c0001t0053 others(11): Show a0001c0001t0023 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0117 a0001c0001t0136 a0001c0001t0138 a0001c0002t0114 a0002c0003t0085 a0003c0004t0045 a0003c0004t0069 a0003c0005t0030 a0003c0005t0113 a0003c0005t0116	a0001c0001t0023g0102 a0001c0001t0048g0047 a0001c0001t0053g0045 others(11): Show a0001c0001t0023g0102 a0001c0001t0048g0047 a0001c0001t0053g0045 a0001c0001t0054g0063 a0001c0001t0117g0012 a0001c0001t0136g0095 a0001c0001t0138g0150 a0001c0002t0114g0125 a0002c0003t0085g0215 a0003c0004t0045g0048 a0003c0004t0069g0022 a0003c0005t0030g0137 a0003c0005t0113g0140 a0003c0005t0116g0126	14	234	0.0598	32	c.761 others(49): Show c.761+2637_761+2638insGATAGATAGATAGATAGATAGATAGATA GATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)