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.

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
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(29): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01192.hp2 HG01256.hp2 others(30): Show HG01169.hp2 HG01192.hp2 HG01256.hp2 HG02040.hp2 HG02083.hp1 HG02145.hp2 HG02273.hp1 HG02523.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp2 HG03491.hp1 HG03654.hp2 HG03927.hp1 NA18612.hp1 NA18948.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA18985.hp1 NA19002.hp2 NA19005.hp2 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003 a0003c0005 a0003c0014 a0003c0016 a0004c0006	a0001c0001t0002 a0001c0001t0006 a0001c0004t0004 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0004t0004 a0001c0007t0002 a0002c0003t0005 a0002c0003t0009 a0003c0005t0004 a0003c0014t0004 a0003c0016t0004 a0004c0006t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 others(30): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0006g0327 a0001c0001t0006g0330 a0001c0004t0004g0114 a0001c0004t0004g0164 a0001c0007t0002g0067 a0001c0007t0002g0068 a0002c0003t0005g0334 a0002c0003t0005g0336 a0002c0003t0005g0339 a0002c0003t0005g0340 a0002c0003t0005g0347 a0002c0003t0005g0348 a0002c0003t0005g0352 a0002c0003t0005g0356 a0002c0003t0009g0349 a0003c0005t0004g0109 a0003c0005t0004g0166 a0003c0005t0004g0168 a0003c0014t0004g0173 a0003c0016t0004g0177 a0004c0006t0002g0065 a0004c0006t0002g0093	33	364	0.0907	36	c.611 others(53): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(29): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0140 a0001c0002t0006g0140	1	176	0.0057	36	c.53- others(51): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19030.hp2 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0030 a0001c0001t0012g0049 a0001c0001t0003g0030 a0001c0001t0012g0049	2	176	0.0114	36	c.53- others(51): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCG CGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	176	0.0057	36	c.53- others(51): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	176	0.0057	36	c.53- others(51): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG06807.hp1 others(3): Show HG00639.hp1 HG01884.hp2 HG06807.hp1 NA18944.hp2 NA18956.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0146 a0001c0001t0002g0039 a0001c0001t0002g0062 others(3): Show a0001c0001t0001g0146 a0001c0001t0002g0039 a0001c0001t0002g0062 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0005g0020	6	176	0.0341	36	c.53- others(51): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK2_chr4_56804861_56826701	56821746	A A	AGGGCGGG others(29): Show AGGGCGGGGAAAGGGGCGGGGGAAGGGGCGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(29): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01257.hp2 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02602.hp2 NA18522.hp2 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp2 NA18973.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA19009.hp1 NA19012.hp1 NA19067.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0025 others(14): Show a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0205 a0002c0002t0002g0207	32	428	0.0748	36	c.-85 others(43): Show c.-85_-84insCTTCCCCCGCCCCTTCCCCCGCCCCTTTCCCCGCCC	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		46		chr4	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	328	0.0031	36	c.372 others(55): Show c.372+19716_372+19717insATATATATATATATATTTTTTTTTTT TTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	328	0.0031	36	c.372 others(55): Show c.372+19716_372+19717insATATATATATATATATATTTTTTTTT TTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0205 a0004c0004t0001g0205	1	356	0.0028	36	c.180 others(53): Show c.1807-513_1807-512insAAAAAAAAAAAATATATATATATATATA TATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18747.hp1 HG01358.hp1 NA18747.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0176 a0004c0004t0001g0196 a0001c0001t0001g0176 a0004c0004t0001g0196	2	356	0.0056	36	c.180 others(53): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03927.hp2 NA19072.hp2 HG01074.hp2 HG03927.hp2 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0076 a0001c0001t0001g0247 a0004c0004t0001g0195 a0001c0001t0001g0076 a0001c0001t0001g0247 a0004c0004t0001g0195	3	356	0.0084	36	c.180 others(53): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	356	0.0028	36	c.180 others(53): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4540924	A A	AGGCCCCG others(29): Show AGGCCCCGTCCCGGGCCCCGTCCCGGGCCCCGTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	404	0.0025	36	c.34 others(47): Show c.3476_*3477insGGCCCCGTCCCGGGCCCCGTCCCGGGCCCCGTCC CG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1890		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18998.hp1 NA19011.hp2 NA18972.hp2 NA18998.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0003g0005 a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0003g0005	3	260	0.0115	36	c.-12 others(47): Show c.-1200_-1199insAAAAAAAATATATATATATATATATATATATATA TA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	260	0.0039	36	c.-12 others(47): Show c.-1200_-1199insAAAAAAAAAATATATATATATATATATATATATA TA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	260	0.0039	36	c.-12 others(47): Show c.-1200_-1199insAAAAAAAAAAAAAATATATATATATATATATATA TA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	152	0.0066	36	c.347 others(53): Show c.347+8590_347+8591insATATATATATATATATATTTTTTTTTTT TTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0104 a0002c0005t0002g0104	1	152	0.0066	36	c.347 others(53): Show c.347+8590_347+8591insATATATATATATATATATATATTTTTTT TTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358390	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 HG03453.hp1 others(2): Show HG02040.hp1 HG02155.hp1 HG03453.hp1 NA18945.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0067 a0001c0001t0002g0144 a0001c0001t0003g0060 others(2): Show a0001c0001t0001g0067 a0001c0001t0002g0144 a0001c0001t0003g0060 a0001c0001t0004g0063 a0001c0001t0022g0006	5	152	0.0329	36	c.187 others(55): Show c.187-91336_187-91335insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137384576	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	152	0.0066	36	c.186 others(57): Show c.186+113796_186+113797insCATATATATATATATATATATATA TATATATATATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(29): Show CATATATATACATATATATATATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG03225.hp2 HG02451.hp1 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0004 a0001c0005t0014 a0001c0001t0001 a0001c0003t0004 a0001c0005t0014	a0001c0001t0001g0109 a0001c0003t0004g0074 a0001c0005t0014g0001 a0001c0001t0001g0109 a0001c0003t0004g0074 a0001c0005t0014g0001	3	144	0.0208	36	c.589 others(55): Show c.589+28327_589+28328insATACACATATATATATATATATATAT GTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(29): Show CATATATATACATATATATATATATATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02622.hp1 HG03098.hp2 others(1): Show HG01346.hp1 HG02622.hp1 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0002g0022 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0002g0022 a0001c0001t0003g0069	4	144	0.0278	36	c.589 others(55): Show c.589+28327_589+28328insATATACACATATATATATATATATAT GTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02071.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0121 a0001c0001t0001g0095 a0001c0001t0002g0121	2	144	0.0139	36	c.589 others(55): Show c.589+28327_589+28328insATACATATATATATATATATATATAT ATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	144	0.0069	36	c.589 others(55): Show c.589+28327_589+28328insATATACATATATATATATATATATAT ATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860805	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG01884.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0103 a0001c0001t0003g0133 a0001c0001t0002g0103 a0001c0001t0003g0133	2	144	0.0139	36	c.589 others(55): Show c.589+28324_589+28325insCATATATATATATATATATATATATA TATATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167222558	T T	TGTGTATG others(29): Show TGTGTATGTTATATATATATTCATATATGAATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0073 a0003c0007t0001g0073	1	144	0.0069	36	c.189 others(55): Show c.189+11426_189+11427insTATATATTCATATATGAATATATATA TAACATACAC	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2335215	T T	TCCACTGC others(29): Show TCCACTGCATCCTTACACTAGATCGCGTGTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	414	0.0024	36	c.186 others(51): Show c.186+507_186+508insACACTAGATCGCGTGTTCCTTTCCCACTGC ATCCTT	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2353363	C C	CCCTCGCC others(29): Show CCCTCGCCGGCTGCTCCCCCGGTCCTGTCCCCTAGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0009 a0001c0004t0030g0009	1	414	0.0024	36	c.15 others(45): Show c.156_*157insTCGCCGGCTGCTCCCCCGGTCCTGTCCCCTAGCACC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	15/15	157	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(29): Show GTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0206 a0001c0001t0068g0206	1	231	0.0043	36	c.-28 others(55): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155765420	C C	CCTCATAG others(29): Show CCTCATAGGTTTGTTGTGAGAATTAAATAGGTTAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0224 a0001c0001t0022g0224	1	231	0.0043	36	c.-28 others(55): Show c.-281-2540_-281-2505dupTCATAGGTTTGTTGTGAGAATTAAAT AGGTTAAAAC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767687	C C	CGGAGGAG others(29): Show CGGAGGAGGAGGAGAAAGAGGCGGAGGAGGAGAAAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0132 a0001c0001t0043g0132	1	231	0.0043	36	c.-28 others(53): Show c.-281-257_-281-256insGGCGGAGGAGGAGAAAGAGGAGGAGGAG GAGAAAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767720	A A	AAGAGGAG others(29): Show AAGAGGAGGAGGAGGAGAGAGAGGAGGAGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18943.hp1 NA18959.hp1 HG02523.hp2 NA18943.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0137 a0001c0001t0004 a0001c0001t0005 a0001c0001t0137	a0001c0001t0004g0061 a0001c0001t0005g0065 a0001c0001t0137g0062 a0001c0001t0004g0061 a0001c0001t0005g0065 a0001c0001t0137g0062	3	231	0.0130	36	c.-28 others(53): Show c.-281-224_-281-189dupGAGAGGAGGAGGAGGAGAGAGAGGAGGA GGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767774	A A	AAGAGGAG others(29): Show AAGAGGAGGAGGAGGAGAGAGAGGAGGAGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA20300.hp1 HG02896.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0042 a0001c0001t0038 a0001c0001t0042	a0001c0001t0038g0047 a0001c0001t0042g0070 a0001c0001t0038g0047 a0001c0001t0042g0070	2	231	0.0087	36	c.-28 others(53): Show c.-281-177_-281-176insAGGAGAGAGAGGAGGAGGAGGAGAGAGA GGAGGAGG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG01891.hp1 others(22): Show HG00280.hp1 HG01496.hp2 HG01891.hp1 HG01993.hp2 HG02148.hp2 HG02165.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA19012.hp1 NA19043.hp1 NA19081.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0051 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0051 a0001c0001t0053 a0001c0001t0077 a0001c0001t0082 a0001c0001t0096 a0001c0001t0097 a0001c0001t0132 a0001c0002t0052 a0001c0002t0131 a0001c0002t0141	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0117 others(22): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0117 a0001c0001t0002g0127 a0001c0001t0002g0170 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0003g0015 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0110 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0051g0079 a0001c0001t0053g0053 a0001c0001t0077g0078 a0001c0001t0082g0122 a0001c0001t0096g0055 a0001c0001t0097g0058 a0001c0001t0132g0226 a0001c0002t0052g0176 a0001c0002t0131g0012 a0001c0002t0141g0210	25	231	0.1082	36	c.29 others(47): Show c.2906_*2907insATATATATATATATATATATATATGTAAATATAT AT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158666204	A A	ATTATTAC others(29): Show ATTATTACTTATTAAGTAATTAATAAGTAATAATTAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0027 a0027	a0027c0099 a0027c0099	a0027c0099t0046 a0027c0099t0046	a0027c0099t0046g0151 a0027c0099t0046g0151	1	370	0.0027	36	c.222 others(52): Show c.2220+76_2220+111dupGTAATTATTACTTATTAATTACTTAATAA GTAATAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	16/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(29): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18954.hp2 NA18941.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0227 a0001c0003t0009g0233	2	370	0.0054	36	c.-47 others(53): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0050 a0001c0005t0008g0050	1	370	0.0027	36	c.149 others(53): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(29): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0041 a0001c0011t0041	a0001c0011t0041g0079 a0001c0011t0041g0079	1	246	0.0041	36	c.130 others(55): Show c.1304-9863_1304-9862insGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531463	T T	TTCTCCTC others(29): Show TTCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02602.hp1 HG02622.hp2 others(10): Show HG01884.hp2 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0039 a0001c0001t0040 a0001c0004t0004 a0001c0010t0004	a0001c0001t0003g0065 a0001c0001t0003g0226 a0001c0001t0004g0017 others(10): Show a0001c0001t0003g0065 a0001c0001t0003g0226 a0001c0001t0004g0017 a0001c0001t0005g0074 a0001c0001t0005g0128 a0001c0001t0005g0181 a0001c0001t0005g0223 a0001c0001t0039g0101 a0001c0001t0040g0222 a0001c0004t0004g0011 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0010t0004g0230	13	246	0.0529	36	c.130 others(55): Show c.1304-9883_1304-9882insGGGAGGGGGAGGAGGAGGAGGAGGAG GAGGAGGAGA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0082 a0001c0003t0011g0082	1	292	0.0034	36	c.118 others(55): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	344	0.0029	36	c.113 others(53): Show c.113-8238_113-8203dupACACACACACACACACACACACACACAC ACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02145.hp2 HG03654.hp1 others(5): Show HG02071.hp1 HG02145.hp2 HG03654.hp1 NA18949.hp1 NA18966.hp2 NA18968.hp2 NA18979.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0001c0001t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0126 a0001c0001t0008g0328 a0002c0002t0001g0076 a0002c0002t0001g0090 a0002c0002t0001g0192 a0002c0002t0001g0212	8	340	0.0235	36	c.-92 others(45): Show c.-928_-927insTATATATATATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45651845	A A	ATTCTTCT others(29): Show ATTCTTCTTCTTCTTCTCCTTCTCCTCCTTCTCCTTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03490.hp1 HG02698.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0257 a0001c0003t0001g0258	2	340	0.0059	36	c.-17 others(53): Show c.-17-7047_-17-7012dupCTCCTTCTCCTCCTTCTCCTTCTTCTTC TTCTTCTT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414987	T T	TACACACA others(29): Show TACACACACATATAGTGTGTATATAGTATGTATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	358	0.0028	36	c.233 others(55): Show c.2334-1695_2334-1694insGTATATACATACTATATACACACTAT ATGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0158 a0002c0004t0005g0158	1	261	0.0038	36	c.345 others(53): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02559.hp1 others(2): Show HG01109.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0164 a0001c0001t0004g0165 others(2): Show a0001c0001t0004g0132 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0004g0343	5	386	0.0130	36	c.91 others(43): Show c.91_*92insATATATATATATATATATATATATATATATATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0131 a0001c0001t0022g0131	1	342	0.0029	36	c.278 others(51): Show c.278+553_278+554insAAAAAAAAAAAATATATATATATATATATA TATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19005.hp1 NA18522.hp2 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0012 a0001c0003t0005 a0001c0003t0012	a0001c0003t0005g0052 a0001c0003t0012g0034 a0001c0003t0005g0052 a0001c0003t0012g0034	2	342	0.0059	36	c.206 others(53): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0019 a0001c0002t0040g0019	1	170	0.0059	36	c.68- others(53): Show c.68-64425_68-64424insTATATATATATATATATATATATATATA TATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)