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
ANXA4_chr2_69737134_69832112	69775961	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	346	0.0029	16	c.-46 others(33): Show c.-46-5544_-46-5529dupTATTTATTTATTTATT	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA6_chr5_151095706_151162779	151114613	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02523.hp1 NA19080.hp1 HG00609.hp2 HG02523.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0169 a0001c0004t0001g0325 a0001c0004t0001g0328 a0001c0003t0001g0169 a0001c0004t0001g0325 a0001c0004t0001g0328	3	408	0.0074	16	c.157 others(35): Show c.1572+2498_1572+2513dupTTTTTTTTTTTTTTTT	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	20/25			chr5	TogoVar
ANXA6_chr5_151095706_151162779	151129697	T T	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	408	0.0025	16	c.796 others(31): Show c.796-184_796-169dupCAAACAAACAAACAAA	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	11/25			chr5	TogoVar
ANXA7_chr10_73370101_73419058	73377773	G G	GGGGGGTG others(9): Show GGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	264	0.0038	16	c.127 others(35): Show c.1278+1137_1278+1138insACACACACACACCCCC	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	12/12			chr10	TogoVar
ANXA7_chr10_73370101_73419058	73377773	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20129.hp1 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0068 a0001c0002t0002g0050 a0001c0002t0002g0068	2	264	0.0076	16	c.127 others(35): Show c.1278+1137_1278+1138insACACACACACACACCC	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	12/12			chr10	TogoVar
ANXA7_chr10_73370101_73419058	73377773	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0021 a0005c0006t0006g0021	1	264	0.0038	16	c.127 others(35): Show c.1278+1122_1278+1137dupACACACACACACACAC	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	12/12			chr10	TogoVar
ANXA7_chr10_73370101_73419058	73377930	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	264	0.0038	16	c.127 others(33): Show c.1278+980_1278+981insGCACACACACACACAC	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	12/12			chr10	TogoVar
ANXA7_chr10_73370101_73419058	73390725	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG03516.hp1 HG01243.hp1 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0005g0028 a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0005g0028	3	264	0.0114	16	c.436 others(33): Show c.436-2312_436-2311insTTATATATATATATAT	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	5/12			chr10	TogoVar
AOAH_chr7_36507941_36729494	36517156	G G	GTCTGTCT others(9): Show GTCTGTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	306	0.0033	16	c.160 others(35): Show c.1600-3777_1600-3776insAAGAAAGAAAGACAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517156	G G	GTCTTTCT others(9): Show GTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG02717.hp1 others(5): Show HG00558.hp2 HG02145.hp2 HG02717.hp1 HG03017.hp1 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0002c0002t0002 a0006c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0158 a0001c0001t0002g0132 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0158 a0001c0001t0002g0132 a0001c0001t0003g0150 a0001c0001t0005g0001 a0001c0003t0001g0301 a0002c0002t0002g0230 a0006c0010t0001g0229	8	306	0.0261	16	c.160 others(35): Show c.1600-3792_1600-3777dupAAGAAAGAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp1 HG02809.hp2 others(10): Show HG01106.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG03239.hp2 NA18747.hp1 NA18947.hp1 NA18960.hp2 NA18975.hp1 NA19002.hp1 NA19065.hp1 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0021 a0001c0026 a0002c0002 a0002c0004 a0004c0005	a0001c0001t0001 a0001c0003t0003 a0001c0007t0003 others(6): Show a0001c0001t0001 a0001c0003t0003 a0001c0007t0003 a0001c0009t0001 a0001c0021t0001 a0001c0026t0001 a0002c0002t0001 a0002c0004t0001 a0004c0005t0001	a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0003t0003g0292 others(10): Show a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0003t0003g0292 a0001c0007t0003g0143 a0001c0009t0001g0099 a0001c0021t0001g0052 a0001c0026t0001g0304 a0002c0002t0001g0177 a0002c0002t0001g0241 a0002c0004t0001g0221 a0002c0004t0001g0223 a0004c0005t0001g0104 a0004c0005t0001g0107	13	306	0.0425	16	c.160 others(35): Show c.1600-3835_1600-3834insAAGAGAAAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517262	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02895.hp1 others(2): Show HG02451.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0006 a0001c0001 a0001c0003 a0005c0006	a0001c0001t0001 a0001c0003t0001 a0005c0006t0004 a0001c0001t0001 a0001c0003t0001 a0005c0006t0004	a0001c0001t0001g0014 a0001c0003t0001g0251 a0005c0006t0004g0003 others(2): Show a0001c0001t0001g0014 a0001c0003t0001g0251 a0005c0006t0004g0003 a0005c0006t0004g0006 a0005c0006t0004g0007	5	306	0.0163	16	c.160 others(35): Show c.1600-3898_1600-3883dupAAGAAAGAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36678550	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18966.hp1 HG02165.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0004 a0001c0009 a0002c0004	a0001c0009t0001 a0002c0004t0001 a0001c0009t0001 a0002c0004t0001	a0001c0009t0001g0151 a0002c0004t0001g0217 a0001c0009t0001g0151 a0002c0004t0001g0217	2	306	0.0065	16	c.224 others(33): Show c.224-4557_224-4542dupACACACACACACACAC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36678600	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03017.hp2 HG03669.hp2 HG01261.hp2 HG03017.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0084 a0002c0002t0001g0183 a0002c0002t0001g0184 a0001c0001t0001g0084 a0002c0002t0001g0183 a0002c0002t0001g0184	3	306	0.0098	16	c.224 others(33): Show c.224-4592_224-4591insGCGCACACACACACAC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOPEP_chr9_94721699_95092159	94847127	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01256.hp1 others(12): Show HG00408.hp1 HG00438.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp1 HG02723.hp2 HG02818.hp1 HG03688.hp2 HG03834.hp2 NA18951.hp1 NA18959.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp2 NA19088.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0014 a0001c0015 others(2): Show a0001c0001 a0001c0014 a0001c0015 a0003c0003 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0001c0015t0001 a0003c0003t0001 a0011c0012t0002	a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0001g0071 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0002g0073 a0001c0001t0002g0093 a0001c0014t0001g0011 a0001c0015t0001g0094 a0003c0003t0001g0172 a0003c0003t0001g0180 a0011c0012t0002g0059	15	182	0.0824	16	c.136 others(37): Show c.1364+46136_1364+46151dupACACACACACACACAC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94847152	A A	ACACACAC others(9): Show ACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0060 a0001c0001t0003g0061	2	182	0.0110	16	c.136 others(37): Show c.1364+46151_1364+46152insACACACACACACACTC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94847152	A A	ACACACAC others(9): Show ACACACACACACACTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	182	0.0055	16	c.136 others(37): Show c.1364+46151_1364+46152insACACACACACACTCTC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94914523	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	182	0.0055	16	c.136 others(35): Show c.1365-9440_1365-9425dupGTGTGTGTGTGTGTGT	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95004935	C C	CCCGCCCG others(9): Show CCCGCCCGCCCGCGCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0135 a0002c0008t0002g0135	1	182	0.0055	16	c.197 others(33): Show c.1978-216_1978-201dupGCCCGCGCCGCCGCCC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95041444	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02717.hp2 HG04204.hp1 others(2): Show HG00621.hp1 HG02717.hp2 HG04204.hp1 NA18971.hp2 NA18999.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0001c0001t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0001g0118 a0001c0001t0002g0007 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0118 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0055 a0005c0005t0001g0119	5	182	0.0275	16	c.211 others(37): Show c.2116-19249_2116-19248insTGTGTGTGTGTGTGTG	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95076990	A A	AGCTCTAG others(9): Show AGCTCTAGGCTTGTGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02895.hp1 others(5): Show HG02109.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03516.hp2 HG03579.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0008 a0007c0006 a0001c0001 a0002c0008 a0007c0006	a0001c0001t0003 a0002c0008t0003 a0007c0006t0003 a0001c0001t0003 a0002c0008t0003 a0007c0006t0003	a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0108 others(5): Show a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0108 a0002c0008t0003g0136 a0007c0006t0003g0104 a0007c0006t0003g0106 a0007c0006t0003g0109 a0007c0006t0003g0112	8	182	0.0440	16	c.223 others(35): Show c.2233-3703_2233-3702insCTCTAGGCTTGTGGGG	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOX1_chr2_200581014_200676495	200588726	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp2 NA19240.hp2 HG02486.hp1 NA18522.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0030 a0001c0001 a0003c0030	a0001c0001t0001 a0001c0001t0002 a0003c0030t0002 a0001c0001t0001 a0001c0001t0002 a0003c0030t0002	a0001c0001t0001g0285 a0001c0001t0002g0286 a0003c0030t0002g0218 a0001c0001t0001g0285 a0001c0001t0002g0286 a0003c0030t0002g0218	3	370	0.0081	16	c.45+ others(31): Show c.45+2579_45+2594dupTTTTTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200630210	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0209 a0003c0003t0004g0209	1	370	0.0027	16	c.222 others(35): Show c.2221+2773_2221+2788dupAAAAAAAAAAAAAAAA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200630548	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03831.hp1 HG03927.hp2 others(1): Show HG02004.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0002g0031 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0002g0031 a0003c0003t0001g0249	4	370	0.0108	16	c.222 others(35): Show c.2221+3136_2221+3151dupAGGAAGGAAGGAAGGA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0093 a0003c0006t0001g0093	1	370	0.0027	16	c.317 others(33): Show c.3171+229_3171+230insAAAATATATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 NA18906.hp1 HG02818.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0269 a0001c0001t0001g0320 a0001c0014t0001g0353 a0001c0001t0001g0269 a0001c0001t0001g0320 a0001c0014t0001g0353	3	370	0.0081	16	c.317 others(33): Show c.3171+254_3171+255insATATATTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATTT others(9): Show ATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp2 HG01243.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0334 a0001c0001t0001g0270 a0001c0001t0001g0334	2	370	0.0054	16	c.317 others(33): Show c.3171+254_3171+255insATATTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1B1_chr22_29322680_29393570	29390582	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02886.hp1 others(6): Show HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG06807.hp1 NA19030.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0012 a0001c0001 a0001c0004 a0008c0012	a0001c0001t0001 a0001c0004t0002 a0001c0004t0013 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0013 a0008c0012t0001	a0001c0001t0001g0101 a0001c0001t0001g0214 a0001c0001t0001g0215 others(6): Show a0001c0001t0001g0101 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0004t0002g0350 a0001c0004t0002g0351 a0001c0004t0002g0353 a0001c0004t0002g0354 a0001c0004t0013g0352 a0008c0012t0001g0014	9	378	0.0238	16	c.-21 others(27): Show c.-2187_-2186insTAAATAAATAAATAAA	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding		2013		chr22	TogoVar
AP1G1_chr16_71724000_71813834	71736098	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0303 a0001c0001t0014g0303	1	320	0.0031	16	c.226 others(35): Show c.2269-1407_2269-1392dupTTTTTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	320	0.0031	16	c.226 others(35): Show c.2269-1411_2269-1410insATATTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03471.hp2 HG00621.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0307 a0001c0001t0002g0249 a0001c0001t0002g0307	2	320	0.0063	16	c.226 others(35): Show c.2269-1411_2269-1410insATATATTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71809220	T T	TGGGGGGT others(9): Show TGGGGGGTAGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	320	0.0031	16	c.-47 others(25): Show c.-477_-462dupCACCCCCCTACCCCCC	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding		387		chr16	TogoVar
AP1G1_chr16_71724000_71813834	71812544	T T	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	320	0.0031	16	c.-38 others(27): Show c.-3801_-3786dupGAGGAAGGAAGGAAGG	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding		3711		chr16	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(9): Show CAGGGGCGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0283 a0001c0001t0032g0283	1	308	0.0033	16	c.546 others(33): Show c.546+6017_546+6018insAGGGGCGGGGGGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215216	G G	GGGGGGGG others(9): Show GGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0017 a0001c0001t0029g0017	1	308	0.0033	16	c.546 others(33): Show c.546+6043_546+6044insGGGGGGGGGGGAGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215220	G G	GGGGGGGG others(9): Show GGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	308	0.0033	16	c.546 others(33): Show c.546+6043_546+6044insGGGGGGGGGGGGGGGA	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250274	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0283 a0001c0001t0032g0283	1	308	0.0033	16	c.15 others(29): Show c.15839_*15840insTGTGTGTGTGTGTGTA	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4369		chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250292	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18951.hp2 NA18971.hp2 others(2): Show NA18947.hp1 NA18951.hp2 NA18971.hp2 NA18984.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0001t0123 a0001c0004t0121 a0001c0001t0008 a0001c0001t0123 a0001c0004t0121	a0001c0001t0008g0260 a0001c0001t0008g0261 a0001c0001t0008g0262 others(2): Show a0001c0001t0008g0260 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0123g0259 a0001c0004t0121g0249	5	308	0.0162	16	c.15 others(29): Show c.15857_*15858insTGTGTGTGTGTGTGTG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4387		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02809.hp2 HG03130.hp2 others(1): Show HG02155.hp2 HG02809.hp2 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0018 a0001c0002t0001g0261 a0001c0002t0002g0001 a0001c0002t0001g0018 a0001c0002t0001g0261 a0001c0002t0002g0001	4	394	0.0102	16	c.25 others(27): Show c.2518_*2519insTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585263	G G	GAAAGAAG others(9): Show GAAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	394	0.0025	16	c.43- others(31): Show c.43-1194_43-1193insTCTTTCTTTCTTCTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585286	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02165.hp2 HG02895.hp2 others(12): Show HG00408.hp1 HG02165.hp2 HG02895.hp2 HG02897.hp1 HG03942.hp1 HG04184.hp2 NA18947.hp1 NA18950.hp1 NA18970.hp2 NA18975.hp2 NA19005.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0001t0001 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0001g0218 others(9): Show a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0009g0217 a0001c0003t0001g0012 a0001c0003t0001g0224 a0001c0003t0001g0225	15	394	0.0381	16	c.43- others(31): Show c.43-1217_43-1216insCTTCTTTCTTTCTTTC	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585290	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	394	0.0025	16	c.43- others(31): Show c.43-1221_43-1220insCTTCTTTCTTTCTTTC	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585290	A A	AGAAAGAA others(9): Show AGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	394	0.0025	16	c.43- others(31): Show c.43-1221_43-1220insCTTCCTTCCTTCTTTC	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585294	A A	AGAAAGAA others(9): Show AGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01109.hp1 others(10): Show HG00323.hp1 HG00733.hp1 HG01109.hp1 HG01496.hp1 HG01517.hp1 HG01981.hp1 HG02129.hp2 HG02738.hp2 HG03491.hp2 HG04115.hp1 HG06807.hp1 NA18943.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0079	13	394	0.0330	16	c.43- others(31): Show c.43-1225_43-1224insCTTCCTTCCTTCTTTC	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG01884.hp2 others(8): Show HG00642.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp1 HG01981.hp2 HG02602.hp1 HG02717.hp1 NA18946.hp2 NA19001.hp1 NA19065.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0016 a0001c0001t0004g0008 a0001c0001t0004g0126 others(2): Show a0001c0001t0002g0016 a0001c0001t0004g0008 a0001c0001t0004g0126 a0001c0001t0005g0080 a0001c0001t0005g0094	11	318	0.0346	16	c.427 others(33): Show c.427-6255_427-6240dupATATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223770497	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	340	0.0029	16	c.292 others(33): Show c.292-5163_292-5148dupGTGTGTGTGTGTGTGT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	3/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780355	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0229 a0001c0001t0002g0232	2	340	0.0059	16	c.4-2 others(29): Show c.4-2487_4-2486insACACACACACACACAC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833241	A A	AATAAATA others(9): Show AATAAATAAATACATAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0045 a0001c0001t0016g0045	1	340	0.0029	16	c.3+4 others(29): Show c.3+4206_3+4207insGTATGTATTTATTTAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833241	A A	AATAAATA others(9): Show AATAAATACATACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp2 others(12): Show HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp2 HG01261.hp2 HG01891.hp1 HG02572.hp2 HG03130.hp1 NA18980.hp2 NA18983.hp1 NA18995.hp1 NA19063.hp1 NA19065.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0001t0042	a0001c0001t0001g0043 a0001c0001t0001g0094 a0001c0001t0001g0327 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0094 a0001c0001t0001g0327 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0006g0329 a0001c0001t0009g0040 a0001c0001t0010g0325 a0001c0001t0024g0042 a0001c0001t0042g0152	15	340	0.0441	16	c.3+4 others(29): Show c.3+4206_3+4207insGTATGTATGTATTTAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833241	A A	AATACATA others(9): Show AATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	340	0.0029	16	c.3+4 others(29): Show c.3+4191_3+4206dupGTATGTATGTATGTAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)