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
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02132.hp2 HG02523.hp1 others(1): Show HG02055.hp1 HG02132.hp2 HG02523.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0022	a0001c0001t0003g0043 a0001c0001t0008g0089 a0001c0001t0011g0170 others(1): Show a0001c0001t0003g0043 a0001c0001t0008g0089 a0001c0001t0011g0170 a0001c0001t0022g0224	4	252	0.0159	13	c.355 others(32): Show c.355+60836_355+60837insTATATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790674	A A	ATCTATCT others(6): Show ATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0208 a0002c0002t0030g0208	1	252	0.0040	13	c.251 others(30): Show c.251-1967_251-1966insATAGATAGATAGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(6): Show CGGGGGGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	332	0.0030	13	c.-10 others(24): Show c.-1093_-1092insGGGGGGGGGCGGG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(6): Show CGGGGGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	332	0.0030	13	c.-10 others(24): Show c.-1093_-1092insGGGGGGGGGGCGG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	332	0.0060	13	c.-10 others(24): Show c.-1093_-1092insGGGGGGGGGGGCG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482862	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA21309.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	332	0.0060	13	c.-10 others(24): Show c.-1092_-1091insGGGGGGGGGGGGC		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1042		chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01258.hp1 others(21): Show HG00639.hp1 HG00673.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01952.hp1 HG02080.hp2 HG02735.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 NA18939.hp2 NA18946.hp1 NA18953.hp1 NA18954.hp2 NA18998.hp2 NA19003.hp1 NA19012.hp2 NA19064.hp1 NA19075.hp1 NA19082.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0050 a0001c0001t0064	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0017g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0017g0000 a0001c0001t0050g0000 a0001c0001t0064g0000	24	408	0.0588	13	c.-14 others(24): Show c.-1443_-1442insTTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0014 a0010c0011t0014	a0010c0011t0014g0019 a0010c0011t0014g0019	1	300	0.0033	13	c.499 others(28): Show c.499+371_499+383dupTTTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91249298	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	358	0.0056	13	c.656 others(32): Show c.656-28307_656-28306insCTTTTTTTTTTTT		AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	6/9						chr9	TogoVar
AURKB_chr17_8199734_8215575	8215223	G G	GATTGGTG others(6): Show GATTGGTGCAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	428	0.0023	13	c.-47 others(24): Show c.-4720_-4719insTTGCTGCACCAAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4649		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69730019	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp2 HG03041.hp1 others(1): Show HG01081.hp2 HG02717.hp2 HG03041.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0032 a0001c0005t0030 a0001c0001t0005 a0001c0001t0032 a0001c0005t0030	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0032g0016 others(1): Show a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0032g0016 a0001c0005t0030g0013	4	76	0.0526	13	c.309 others(34): Show c.309+130057_309+130058insTTTTTTTTTTTTA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69764948	C C	CTTTCTCC others(6): Show CTTTCTCCCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	13	c.310 others(34): Show c.310-134335_310-134323dupTCTCCCTTTCTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02647.hp2 HG03225.hp1 HG00099.hp2 HG02647.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0035 a0002c0002t0036 a0001c0001t0009 a0001c0001t0035 a0002c0002t0036	a0001c0001t0009g0023 a0001c0001t0035g0019 a0002c0002t0036g0017 a0001c0001t0009g0023 a0001c0001t0035g0019 a0002c0002t0036g0017	3	76	0.0395	13	c.310 others(32): Show c.310-26438_310-26426dupTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69996946	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp2 HG02717.hp2 others(2): Show HG01175.hp1 HG02165.hp2 HG02717.hp2 HG03540.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0001t0032	a0001c0001t0001g0037 a0001c0001t0003g0031 a0001c0001t0009g0006 others(2): Show a0001c0001t0001g0037 a0001c0001t0003g0031 a0001c0001t0009g0006 a0001c0001t0022g0032 a0001c0001t0032g0016	5	76	0.0658	13	c.522 others(32): Show c.522+97454_522+97466dupAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0062 a0001c0001t0010g0065 a0001c0001t0002g0062 a0001c0001t0010g0065	2	76	0.0263	13	c.660 others(32): Show c.660+22344_660+22356dupAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	76	0.0132	13	c.660 others(34): Show c.660+110599_660+110600insTATATATATATAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70283421	A A	ACAAACTG others(6): Show ACAAACTGACATGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	76	0.0132	13	c.660 others(34): Show c.660+148863_660+148875dupTCAAACTGACATG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0030 a0001c0005t0030	a0001c0005t0030g0013 a0001c0005t0030g0013	1	76	0.0132	13	c.691 others(34): Show c.691-119319_691-119307dupAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG01109.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0217 a0001c0001t0005g0218	2	266	0.0075	13	c.517 others(28): Show c.517-757_517-745dupTTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33918458	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG04184.hp2 HG02818.hp2 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0180 a0004c0004t0001g0020 a0001c0001t0002g0180 a0004c0004t0001g0020	2	266	0.0075	13	c.446 others(32): Show c.446-42476_446-42464dupAAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	372	0.0027	13	c.-20 others(28): Show c.-20+434_-20+446dupAAAAAAAAAAAAA		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19						chr12	TogoVar
AVL9_chr7_32490489_32593726	32551605	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03831.hp1 HG02145.hp1 HG02717.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0024 a0001c0001t0028 a0001c0008t0119 a0001c0001t0024 a0001c0001t0028 a0001c0008t0119	a0001c0001t0024g0287 a0001c0001t0028g0242 a0001c0008t0119g0311 a0001c0001t0024g0287 a0001c0001t0028g0242 a0001c0008t0119g0311	3	330	0.0091	13	c.462 others(28): Show c.462+189_462+201dupTTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00738.hp1 others(39): Show HG00408.hp2 HG00544.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01256.hp2 HG01358.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02135.hp1 HG02280.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG06807.hp1 NA18944.hp2 NA18948.hp1 NA18965.hp1 NA18966.hp1 NA19030.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0012 a0001c0004 a0002c0003 a0002c0012	a0001c0004t0021 a0001c0004t0031 a0001c0004t0040 others(17): Show a0001c0004t0021 a0001c0004t0031 a0001c0004t0040 a0001c0004t0042 a0001c0004t0087 a0001c0004t0091 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0020 a0002c0003t0030 a0002c0003t0032 a0002c0003t0041 a0002c0003t0082 a0002c0003t0083 a0002c0003t0086 a0002c0003t0089 a0002c0003t0115 a0002c0003t0123 a0002c0012t0002	a0001c0004t0021g0162 a0001c0004t0021g0325 a0001c0004t0031g0153 others(39): Show a0001c0004t0021g0162 a0001c0004t0021g0325 a0001c0004t0031g0153 a0001c0004t0031g0167 a0001c0004t0040g0159 a0001c0004t0042g0154 a0001c0004t0042g0155 a0001c0004t0087g0324 a0001c0004t0091g0114 a0002c0003t0002g0121 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0144 a0002c0003t0002g0171 a0002c0003t0002g0173 a0002c0003t0008g0002 a0002c0003t0008g0115 a0002c0003t0008g0125 a0002c0003t0008g0128 a0002c0003t0008g0328 a0002c0003t0012g0146 a0002c0003t0012g0148 a0002c0003t0012g0149 a0002c0003t0012g0150 a0002c0003t0020g0113 a0002c0003t0020g0130 a0002c0003t0020g0134 a0002c0003t0020g0169 a0002c0003t0030g0138 a0002c0003t0030g0151 a0002c0003t0032g0135 a0002c0003t0032g0136 a0002c0003t0041g0139 a0002c0003t0041g0147 a0002c0003t0082g0002 a0002c0003t0083g0137 a0002c0003t0086g0174 a0002c0003t0089g0124 a0002c0003t0115g0140 a0002c0003t0123g0191 a0002c0012t0002g0145	42	330	0.1273	13	c.135 others(30): Show c.1351-394_1351-382dupAAAAAAAAAAAAA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32576457	G G	GGAGGCAA others(6): Show GGAGGCAATTTTAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0142 a0001c0002t0005g0142	1	330	0.0030	13	c.168 others(30): Show c.1688+386_1688+398dupGAGGCAATTTTAA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPR2_chrX_153899673_153912166	153905974	G G	GAACCGGC others(6): Show GAACCGGCCGGTGC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0009 a0012c0018t0001g0009	1	322	0.0031	13	c.469 others(20): Show c.469_481dupAACCGGCCGGTGC	p.Leu others(5): Show p.Leu161fs	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	3/4	753/1825	482/1116	161/371		INFO_REALIGN_3_PRIME	chrX	TogoVar
AXDND1_chr1_179360971_179559735	179364532	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG02071.hp1 HG02165.hp2 NA18943.hp2 NA18979.hp1 NA18989.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 others(10): Show a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308 a0004c0005t0001g0309 a0004c0005t0001g0310	13	356	0.0365	13	c.-15 others(24): Show c.-1575_-1574insTTTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding					1438		chr1	TogoVar
AXDND1_chr1_179360971_179559735	179459994	T T	TCCTTCCT others(6): Show TCCTTCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG01884.hp2 HG02486.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0097 a0009c0013t0001g0098 a0009c0013t0001g0097 a0009c0013t0001g0098	2	356	0.0056	13	c.179 others(32): Show c.1799-8442_1799-8441insCTCCTCCCTTCCT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	320743	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0059 a0001c0003t0013g0059	1	378	0.0027	13	c.879 others(30): Show c.879-6061_879-6060insAAAAAAATATATA		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN1_chr16_282440_357723	320743	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0228 a0001c0004t0001g0228	1	378	0.0027	13	c.879 others(30): Show c.879-6061_879-6060insAAAAAAAAATATA		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 NA18953.hp1 others(1): Show HG01167.hp1 HG01175.hp1 NA18953.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0005t0001g0175 others(1): Show a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0005t0001g0175 a0001c0005t0001g0190	4	402	0.0100	13	c.106 others(30): Show c.1060-337_1060-325dupTTTTTTTTTTTTT		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10						chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02486.hp2 others(2): Show HG01884.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG03491.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0031 a0001c0001t0033 a0007c0009t0033 a0001c0001t0031 a0001c0001t0033 a0007c0009t0033	a0001c0001t0031g0005 a0001c0001t0031g0155 a0001c0001t0031g0232 others(2): Show a0001c0001t0031g0005 a0001c0001t0031g0155 a0001c0001t0031g0232 a0001c0001t0033g0124 a0007c0009t0033g0278	5	314	0.0159	13	c.41 others(22): Show c.413_*425dupTTTTTTTTTTTTT		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20				426	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	823449	A A	AAAAAAAA others(6): Show AAAAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18972.hp2 NA18956.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0059 a0001c0001t0001g0001 a0001c0002t0001g0059	2	391	0.0051	13	c.-43 others(24): Show c.-4398_-4397insAAAAAAAACAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4387		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	2	391	0.0051	13	c.-43 others(24): Show c.-4397_-4396insAAAAAAAAAAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(6): Show AAAAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03704.hp2 NA18906.hp2 others(3): Show HG02109.hp2 HG03704.hp2 NA18906.hp2 NA18941.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0003t0001g0064 others(1): Show a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0003t0001g0064 a0001c0004t0001g0008	6	391	0.0154	13	c.-43 others(24): Show c.-4397_-4396insAAAAAAAACAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAACAAAA others(6): Show AAACAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	391	0.0026	13	c.-43 others(24): Show c.-4397_-4396insAACAAAAAAAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	344	0.0029	13	c.113 others(30): Show c.113-4028_113-4016dupTTTTTTTTTTTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11						chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167647536	A A	AGTTAAGG others(6): Show AGTTAAGGATTGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0117 a0001c0001t0019g0117	1	118	0.0085	13	c.-35 others(30): Show c.-352+570_-352+571insGTTAAGGATTGAG		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4						chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167848908	A A	AGATTAAT others(6): Show AGATTAATGTACAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA21309.hp1 HG01496.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0035 a0001c0001t0022 a0001c0001t0035	a0001c0001t0022g0047 a0001c0001t0035g0041 a0001c0001t0022g0047 a0001c0001t0035g0041	2	118	0.0170	13	c.-22 others(34): Show c.-229-19901_-229-19900insTTAATGTACATGA		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT2_chr1_193173730_193191613	193187102	T T	TCCCCCCC others(6): Show TCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	13	c.-12 others(24): Show c.-1205_-1204insGGGGGGGGGGGGG		B3GALT2	ENSG00000162630.6	transcript	ENST00000367434.5	protein_coding					490		chr1	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTTCTT others(6): Show TTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0090 a0002c0002t0090	a0002c0002t0090g0119 a0002c0002t0090g0119	1	336	0.0030	13	c.-39 others(32): Show c.-391-6991_-391-6990insCTTCTTTCTTTCT		B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT9_chr9_120788467_120806787	120804731	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0060 a0002c0002t0027g0060	1	404	0.0025	13	c.50 others(24): Show c.5053_*5054insTTTTTTTTTTTTT		B3GALT9	ENSG00000214654.9	transcript	ENST00000689072.1	protein_coding					2945		chr9	TogoVar
B3GLCT_chr13_31194975_31337276	31213616	A A	ACCCCCCA others(6): Show ACCCCCCACCCCCC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	268	0.0037	13	c.71- others(28): Show c.71-1431_71-1430insCCACCCCCCCCCC		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31213616	A A	ACCCCCCC others(6): Show ACCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0125 a0002c0002t0008g0125	1	268	0.0037	13	c.71- others(28): Show c.71-1431_71-1430insCCCCCCCCCCCCC		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308333	A A	AAAAAAAA others(6): Show AAAAAAAAAAATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02647.hp1 others(3): Show HG01891.hp2 HG02055.hp2 HG02647.hp1 HG03130.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0001g0175 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0256 a0001c0001t0004g0163 a0001c0001t0004g0173	6	268	0.0224	13	c.106 others(32): Show c.1065-9223_1065-9222insTTTAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308347	T T	TAAAAAAA others(6): Show TAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	268	0.0037	13	c.106 others(32): Show c.1065-9209_1065-9208insCAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308347	T T	TAAAAAAA others(6): Show TAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	268	0.0037	13	c.106 others(32): Show c.1065-9210_1065-9209insCAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308347	T T	TAAAAAAA others(6): Show TAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	268	0.0037	13	c.106 others(32): Show c.1065-9211_1065-9210insCAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(79): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02698.hp1 HG02735.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18964.hp1 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18998.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0004c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0046 others(78): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0004g0039 a0001c0001t0004g0058 a0001c0001t0005g0001 a0001c0001t0005g0045 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0104 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0254 a0001c0001t0006g0035 a0001c0001t0006g0197 a0001c0001t0007g0018 a0001c0001t0007g0021 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0112 a0001c0001t0007g0149 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0014g0186 a0001c0001t0015g0105 a0001c0001t0022g0050 a0001c0001t0024g0123 a0004c0005t0001g0072 a0004c0005t0001g0073	82	268	0.3060	13	c.106 others(32): Show c.1065-9195_1065-9194insAAACAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAAAAAAC others(6): Show AAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	268	0.0037	13	c.106 others(32): Show c.1065-9198_1065-9197insCAAAAACAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAACAAAA others(6): Show AAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	268	0.0037	13	c.106 others(32): Show c.1065-9202_1065-9201insCAAAAAAAAACAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)