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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARSL_chrX_2929521_2969341	2941247	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01169.hp1 HG01169.hp2 others(2): Show HG00408.hp1 HG01169.hp1 HG01169.hp2 NA19056.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0061 a0001c0001t0001g0257 a0001c0001t0001g0274 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0257 a0001c0001t0001g0274 a0001c0001t0001g0303 a0001c0009t0001g0199	5	328	0.0152	-11	c.112 others(30): Show c.1126+1807_1126+1817delAAAAAAAAAAA		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	8/10						chrX	TogoVar
ARSL_chrX_2929521_2969341	2960268	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19002.hp1 NA19080.hp1 NA18948.hp1 NA19002.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0109	3	328	0.0092	-11	c.23+ others(23): Show c.23+99_23+109delTTTTTTTTTTT		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	2/10						chrX	TogoVar
ARV1_chr1_230974094_231005733	230986366	ACATTTGA others(4): Show ACATTTGAATTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG03195.hp2 others(2): Show HG02451.hp2 HG02717.hp1 HG03195.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0250 a0001c0001t0004g0251 others(1): Show a0001c0001t0004g0052 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252	5	402	0.0124	-11	c.175 others(28): Show c.175-1951_175-1941delTTTGAATTGCA		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986666	CTATTTTT others(4): Show CTATTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(16): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG01175.hp2 HG01361.hp1 HG02602.hp1 HG02738.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp1 NA18968.hp1 NA18985.hp2 NA19006.hp2 NA19030.hp2 NA19064.hp1 NA19075.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 others(16): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244	19	402	0.0473	-11	c.175 others(28): Show c.175-1652_175-1642delATTTTTTTTTT		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	402	0.0025	-11	c.175 others(28): Show c.175-1624_175-1614delTTTTTTTTTTT		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
AR_chrX_67539021_67735619	67546509	GGTGGTGG others(4): Show GGTGGTGGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02818.hp2 HG02818.hp2	a0057 a0057	a0057c0062 a0057c0062	a0057c0062t0010 a0057c0062t0010	a0057c0062t0010g0185 a0057c0062t0010g0185	1	193	0.0052	-11	c.136 others(20): Show c.1365_1375delTGGTGGCGGCG	p.Gly others(5): Show p.Gly456fs	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2491/10667	1365/2763	455/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG01255.hp1 others(6): Show HG00597.hp2 HG01175.hp2 HG01255.hp1 HG02630.hp1 HG02698.hp1 HG02818.hp1 HG03239.hp1 HG03704.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0253 others(6): Show a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0253 a0001c0001t0001g0283 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0320 a0001c0001t0001g0329 a0001c0001t0001g0339	9	362	0.0249	-11	c.886 others(28): Show c.886-5007_886-4997delTTTTTTTTTTT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906269	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0215 a0001c0001t0013g0215	1	362	0.0028	-11	c.55 others(22): Show c.5570_*5580delAAAAAAAATAT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding					4371		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50254335	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19077.hp2 NA19068.hp1 NA19077.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0017 a0002c0001t0029 a0002c0001t0017 a0002c0001t0029	a0002c0001t0017g0321 a0002c0001t0029g0322 a0002c0001t0017g0321 a0002c0001t0029g0322	2	408	0.0049	-11	c.-29 others(22): Show c.-2988_-2978delTTTTTTTTTTT		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding					2820		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130070839	GGGAGAGA others(4): Show GGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0199 a0001c0001t0017g0199	1	308	0.0033	-11	c.270 others(30): Show c.2701+5498_2701+5508delTCCCTCTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070949	GGGGTAGA others(4): Show GGGGTAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18985.hp2 HG04184.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0052 a0001c0001t0032g0297 a0001c0001t0001g0052 a0001c0001t0032g0297	2	308	0.0065	-11	c.270 others(30): Show c.2701+5388_2701+5398delTCTCTCTACCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070967	GAGAGAGG others(4): Show GAGAGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	308	0.0033	-11	c.270 others(30): Show c.2701+5370_2701+5380delTCCCCCTCTCT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071000	AGGGGAGG others(4): Show AGGGGAGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG01978.hp2 others(3): Show HG01192.hp2 HG01255.hp2 HG01978.hp2 HG02647.hp1 HG02723.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0002g0089 others(3): Show a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0180 a0001c0001t0012g0298	6	308	0.0195	-11	c.270 others(30): Show c.2701+5337_2701+5347delCCCCCCTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130097126	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp2 HG01891.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0018g0290 a0001c0001t0018g0294	2	308	0.0065	-11	c.240 others(30): Show c.2402-4994_2402-4984delTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130107516	ATGTATGT others(4): Show ATGTATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp2 HG01891.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0018g0290 a0001c0001t0018g0294	2	308	0.0065	-11	c.240 others(30): Show c.2401+4567_2401+4577delACATACATACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130121784	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp2 HG02886.hp2 others(4): Show HG01074.hp2 HG02055.hp2 HG02886.hp2 HG02970.hp1 HG03130.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0005t0005 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005	a0001c0001t0001g0016 a0001c0005t0001g0166 a0001c0005t0005g0285 others(4): Show a0001c0001t0001g0016 a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293	7	308	0.0227	-11	c.160 others(30): Show c.1607+2218_1607+2228delTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	18/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130131603	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0088 a0001c0001t0028g0088	1	308	0.0033	-11	c.121 others(30): Show c.1217+2682_1217+2692delTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	15/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262415	AAAGAGAG others(4): Show AAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	308	0.0033	-11	c.187 others(30): Show c.187-25432_187-25422delCTCTCTCTCTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262417	AGAGAGAG others(4): Show AGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp2 HG02615.hp1 others(5): Show HG00597.hp1 HG01891.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02922.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 others(3): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0002c0002t0003 a0002c0002t0011	a0001c0001t0008g0011 a0001c0001t0008g0021 a0001c0001t0011g0015 others(5): Show a0001c0001t0008g0011 a0001c0001t0008g0021 a0001c0001t0011g0015 a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286 a0002c0002t0003g0136 a0002c0002t0011g0235	8	308	0.0260	-11	c.187 others(30): Show c.187-25434_187-25424delCTCTCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130283583	GAAAGAAA others(4): Show GAAAGAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	308	0.0033	-11	c.187 others(30): Show c.187-46600_187-46590delTTTTTTTCTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130376903	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp1 HG00673.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0191 a0001c0001t0002g0192	2	308	0.0065	-11	c.60- others(28): Show c.60-18771_60-18761delTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130445972	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG04184.hp1 NA18969.hp2 others(1): Show HG00597.hp1 HG04184.hp1 NA18969.hp2 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0117 a0002c0002t0003g0129 others(1): Show a0002c0002t0003g0114 a0002c0002t0003g0117 a0002c0002t0003g0129 a0002c0002t0003g0136	4	308	0.0130	-11	c.-25 others(22): Show c.-2551_-2541delTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2299		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254208	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0135 a0001c0003t0006g0135	1	210	0.0048	-11	c.127 others(30): Show c.127-25090_127-25080delAAAAAAAAAAA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9270785	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02717.hp1 HG03098.hp1 others(1): Show HG01496.hp2 HG02717.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0001 a0001c0003t0001 a0001c0011t0001	a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 others(1): Show a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0011t0001g0178	4	210	0.0191	-11	c.127 others(28): Show c.127-8517_127-8507delTTTTTTTTTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9317168	TCACCACA others(4): Show TCACCACACTCA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01884.hp1 others(5): Show HG01070.hp1 HG01109.hp1 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0004 a0001c0007t0004 a0001c0006t0004 a0001c0007t0004	a0001c0006t0004g0014 a0001c0006t0004g0018 a0001c0006t0004g0032 others(5): Show a0001c0006t0004g0014 a0001c0006t0004g0018 a0001c0006t0004g0032 a0001c0006t0004g0063 a0001c0006t0004g0189 a0001c0006t0004g0197 a0001c0006t0004g0204 a0001c0007t0004g0019	8	210	0.0381	-11	c.346 others(28): Show c.346-1355_346-1345delCACCACACTCA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27						chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397742	ATATATAT others(4): Show ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 NA19043.hp1 HG02486.hp2 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0004 a0001c0003t0001 a0001c0007t0004	a0001c0003t0001g0046 a0001c0007t0004g0015 a0001c0007t0004g0154 a0001c0003t0001g0046 a0001c0007t0004g0015 a0001c0007t0004g0154	3	210	0.0143	-11	c.268 others(30): Show c.2685-2279_2685-2269delATATATATTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397744	ATATATAT others(4): Show ATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	210	0.0048	-11	c.268 others(30): Show c.2685-2277_2685-2267delATATATTTTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397746	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG06807.hp2 HG02735.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0021 a0001c0003t0006 a0001c0003t0021	a0001c0003t0006g0006 a0001c0003t0021g0040 a0001c0003t0006g0006 a0001c0003t0021g0040	2	210	0.0095	-11	c.268 others(30): Show c.2685-2275_2685-2265delATATTTTTTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23464659	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00733.hp1 others(26): Show HG00408.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp2 HG01934.hp2 HG01993.hp1 HG02155.hp1 HG02293.hp1 HG02735.hp1 HG03490.hp1 HG03492.hp2 NA18944.hp2 NA18947.hp2 NA18955.hp2 NA18971.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0051 others(24): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100	29	346	0.0838	-11	c.130 others(28): Show c.130-8476_130-8466delTTTTTTTTTTT		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24						chr1	TogoVar
ASB15_chr7_123596821_123644481	123620546	ATATATAT others(4): Show ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01952.hp2 NA19070.hp1 HG01346.hp2 HG01952.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0003c0005t0002 a0001c0002t0001 a0001c0002t0002 a0003c0005t0002	a0001c0002t0001g0050 a0001c0002t0002g0046 a0003c0005t0002g0247 a0001c0002t0001g0050 a0001c0002t0002g0046 a0003c0005t0002g0247	3	380	0.0079	-11	c.451 others(28): Show c.451+2811_451+2821delATATATATTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620548	ATATATAT others(4): Show ATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	380	0.0026	-11	c.451 others(28): Show c.451+2813_451+2823delATATATTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620550	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0238 a0001c0001t0015g0238	1	380	0.0026	-11	c.451 others(28): Show c.451+2815_451+2825delATATTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620554	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	380	0.0026	-11	c.451 others(28): Show c.451+2842_451+2852delTTTTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB16_chr17_44165704_44184084	44166768	CACTCCCT others(4): Show CACTCCCTGCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0104 a0010c0014t0001g0104	1	362	0.0028	-11	c.-40 others(22): Show c.-4021_-4011delACTCCCTGCTA		ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding					3935		chr17	TogoVar
ASB16_chr17_44165704_44184084	44176392	TGAATGAT others(4): Show TGAATGATTCAG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	362	0.0028	-11	c.570 others(26): Show c.570-345_570-335delGAATGATTCAG		ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding	2/4						chr17	TogoVar
ASB2_chr14_93929166_93981570	93956571	TCTGTGGC others(4): Show TCTGTGGCCACC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0351 a0002c0010t0004g0351	1	373	0.0027	-11	c.311 others(26): Show c.311+184_311+194delGGTGGCCACAG		ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	3/9						chr14	TogoVar
ASB3_chr2_53664980_53791953	53667696	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03130.hp2 HG03540.hp1 HG02630.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	3	350	0.0086	-11	c.27 others(22): Show c.2796_*2806delTTTTTTTTTTT		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding					2283		chr2	TogoVar
ASB3_chr2_53664980_53791953	53702436	ATGGATAA others(4): Show ATGGATAACCTC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0298 a0001c0003t0002g0298	1	350	0.0029	-11	c.981 others(28): Show c.981-1919_981-1909delGAGGTTATCCA		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	7/9						chr2	TogoVar
ASB3_chr2_53664980_53791953	53756098	GGAGGCTG others(4): Show GGAGGCTGCAAT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG00733.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0336 a0001c0001t0001g0099 a0001c0001t0001g0336	2	350	0.0057	-11	c.197 others(28): Show c.197-5168_197-5158delATTGCAGCCTC		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	2/9						chr2	TogoVar
ASB5_chr4_176208673_176274222	176219564	TATATTTG others(4): Show TATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	410	0.0024	-11	c.670 others(28): Show c.670+1580_670+1590delCATACAAATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176251564	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02080.hp2 HG02976.hp2 others(1): Show HG00544.hp1 HG02080.hp2 HG02976.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0001c0001t0001 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0015 a0001c0002t0001g0078 a0003c0007t0001g0034 a0001c0001t0001g0015 a0001c0002t0001g0078 a0003c0007t0001g0034	4	410	0.0098	-11	c.196 others(30): Show c.196+17338_196+17348delTTTTTTTTTTT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176256314	TATAATGG others(4): Show TATAATGGTCTC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19057.hp1 NA18947.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	2	410	0.0049	-11	c.196 others(30): Show c.196+12588_196+12598delGAGACCATTAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6						chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218160	AAAAAAAT others(4): Show AAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02273.hp1 HG02280.hp1 others(1): Show HG00438.hp1 HG02273.hp1 HG02280.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0002g0117 a0001c0001t0002g0139 others(1): Show a0001c0001t0001g0039 a0001c0001t0002g0117 a0001c0001t0002g0139 a0001c0001t0002g0212	4	216	0.0185	-11	c.-19 others(22): Show c.-1998_-1988delATATATTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1885		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218162	AAAAATAT others(4): Show AAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG06807.hp1 HG02165.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0121 a0003c0003t0002g0001 a0001c0001t0002g0121 a0003c0003t0002g0001	2	216	0.0093	-11	c.-20 others(22): Show c.-2000_-1990delATATATATTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1887		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218164	AAATATAT others(4): Show AAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	216	0.0046	-11	c.-20 others(22): Show c.-2002_-1992delATATATATATT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1889		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218166	ATATATAT others(4): Show ATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03927.hp1 HG02486.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0090 a0002c0002t0004g0201 a0001c0001t0001g0090 a0002c0002t0004g0201	2	216	0.0093	-11	c.-20 others(22): Show c.-2004_-1994delATATATATATA		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1891		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100532398	ATATATAT others(4): Show ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	314	0.0032	-11	c.577 others(30): Show c.5775+7754_5775+7764delAAATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	37/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100532400	ATATATAT others(4): Show ATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0003 a0016c0017t0003	a0016c0017t0003g0133 a0016c0017t0003g0133	1	314	0.0032	-11	c.577 others(30): Show c.5775+7752_5775+7762delAAAAATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	37/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100532402	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0185 a0003c0004t0004g0185	1	314	0.0032	-11	c.577 others(30): Show c.5775+7750_5775+7760delAAAAAAATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	37/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100532404	ATATTTTT others(4): Show ATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0019 a0019	a0019c0016 a0019c0016	a0019c0016t0002 a0019c0016t0002	a0019c0016t0002g0160 a0019c0016t0002g0160	1	314	0.0032	-11	c.577 others(30): Show c.5775+7748_5775+7758delAAAAAAAAATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	37/41						chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)