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 (≤).

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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
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG04199.hp2 HG02280.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0302 a0001c0002t0001g0038 a0001c0001t0005g0302 a0001c0002t0001g0038	2	322	0.0062	46	c.39 others(57): Show c.3979_*3980insTATATATATATATATATATATATATATATATATA TATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0261 a0002c0005t0001g0261	1	322	0.0031	46	c.342 others(63): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATATTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATGCGCGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0276 a0002c0005t0001g0276	1	322	0.0031	46	c.342 others(63): Show c.3420-521_3420-520insGCGCGCATATATATATATATATATATAT ATATATATATATATTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(39): Show AAAATATATATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0274 a0002c0005t0001g0274	1	322	0.0031	46	c.342 others(63): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATATATTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSC3_chr18_30984365_31047742	31011931	G G	GAAAAAAA others(39): Show GAAAAAAAAAAAAAAAAGTACTTAAAAGTACTCCATCTCCAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0066 a0002c0003t0066	a0002c0003t0066g0283 a0002c0003t0066g0283	1	392	0.0026	46	c.126 others(65): Show c.1264-3407_1264-3406insTTTTTTTGGAGATGGAGTACTTTTAA GTACTTTTTTTTTTTTTTTT	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	9/15			chr18	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	84	0.0119	46	c.121 others(65): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATATATATATATATATATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DUS3L_chr19_5780140_5796163	5796158	C C	CTTCTTCT others(39): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	46	c.-50 others(57): Show c.-5018_-5017insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4996		chr19	TogoVar
DUSP8_chr11_1549051_1577271	1575860	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTCCAGACAGAGTCTCTTTGTTAAGGAAATACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	367	0.0027	46	c.-40 others(57): Show c.-4069_-4068insAAGTATTTCCTTAACAAAGAGACTCTGTCTGGAA AAAAAAAAAAAA	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3590		chr11	TogoVar
DYNC1H1_chr14_101959573_102061443	102049987	G G	GGTGGAGC others(39): Show GGTGGAGCCTCTGGGCGCCCTGTGACTGGGGTTTGTGTAGCTGTTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(38): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01074.hp1 HG01167.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01943.hp1 HG01993.hp2 HG02080.hp2 HG02155.hp2 HG03492.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0021 a0006c0020 a0001c0002 a0001c0021 a0006c0020	a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 others(7): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0029 a0001c0002t0033 a0001c0002t0037 a0001c0021t0001 a0006c0020t0001	a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0056 others(38): Show a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0247 a0001c0002t0008g0072 a0001c0002t0009g0151 a0001c0002t0011g0145 a0001c0002t0011g0249 a0001c0002t0012g0115 a0001c0002t0012g0127 a0001c0002t0029g0146 a0001c0002t0033g0103 a0001c0002t0037g0149 a0001c0021t0001g0060 a0006c0020t0001g0110	41	280	0.1464	46	c.136 others(63): Show c.13685-81_13685-36dupGGAGCCTCTGGGCGCCCTGTGACTGGGG TTTGTGTAGCTGTTGTGT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	76/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC2I2_chr9_128628653_128661847	128650528	T T	TATATATA others(39): Show TATATATATATATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG01884.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0071 a0001c0007t0001g0094 a0001c0007t0001g0071 a0001c0007t0001g0094	2	368	0.0054	46	c.186 others(63): Show c.186+6012_186+6013insTATATATATATATATATATATATAATAT ATATATATATATATATAT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128650541	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	368	0.0027	46	c.186 others(63): Show c.186+5999_186+6000insCATATATATATATATATATATATATATA TATATATATATATATATA	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
EBF3_chr10_129830233_129969274	129873862	A A	AATTCAAT others(39): Show AATTCAATTCAGAGAAATATTCTTCTAGCCATTAGCTTCAGAAACAC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0181 a0001c0001t0009g0181	1	338	0.0030	46	c.637 others(61): Show c.637-312_637-267dupGTGTTTCTGAAGCTAATGGCTAGAAGAATA TTTCTCTGAATTGAAT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	7/16			chr10	TogoVar
ECHS1_chr10_133357485_133378354	133366684	T T	TCTGGGTT others(39): Show TCTGGGTTTCTGTGGGGCTCCCCCATGGGGGACACCTGGATGCCACC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG01884.hp1 others(6): Show HG00733.hp2 HG01261.hp1 HG01884.hp1 HG02615.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0008 a0003c0004t0002g0160 a0003c0004t0002g0161 others(2): Show a0003c0004t0002g0008 a0003c0004t0002g0160 a0003c0004t0002g0161 a0003c0004t0002g0172 a0003c0004t0002g0173	9	354	0.0254	46	c.619 others(61): Show c.619+204_619+205insGGTGGCATCCAGGTGTCCCCCATGGGGGAG CCCCACAGAAACCCAG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	5/7			chr10	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTCTCTTT others(39): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	369	0.0027	46	c.24 others(57): Show c.2434_*2435insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTTTCTTT others(39): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01496.hp1 others(1): Show HG01106.hp1 HG01106.hp2 HG01496.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0043	4	369	0.0108	46	c.24 others(57): Show c.2434_*2435insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446467	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	46	c.24 others(57): Show c.2432_*2433insGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2092		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446467	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	369	0.0027	46	c.24 others(57): Show c.2432_*2433insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2092		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446471	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG03710.hp2 HG01169.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	369	0.0054	46	c.24 others(57): Show c.2428_*2429insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2088		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	369	0.0027	46	c.24 others(57): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01496.hp1 HG00438.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0051 a0001c0001t0003g0066 a0001c0001t0002g0051 a0001c0001t0003g0066	2	226	0.0089	46	c.396 others(65): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATGTGTGTGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EEIG1_chr9_127935582_127985989	127957286	G G	GATCTTTT others(39): Show GATCTTTTCTGCAACTTTTGTTGCAGATTGATACAAGATTGTATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG06807.hp1 HG01884.hp2 HG02970.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	342	0.0088	46	c.147 others(63): Show c.147-3362_147-3361insAATATACAATCTTGTATCAATCTGCAAC AAAAGTTGCAGAAAAGAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EFCAB2_chr1_244964682_245092837	244970641	G G	GCCCCGCC others(39): Show GCCCCGCCCCGCCCCGCCTCTCTCCCCCGCCCCGCCCCGCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA21309.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0126 a0001c0002t0002g0273 a0001c0001t0001g0126 a0001c0002t0002g0273	2	290	0.0069	46	c.25+ others(59): Show c.25+202_25+247dupCGCCCCGCCCCGCCTCTCTCCCCCGCCCCGCC CCGCCTCTCTCCCC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19063.hp1 NA19066.hp1 others(1): Show NA18961.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0204 a0001c0001t0005g0149 a0001c0001t0005g0192 others(1): Show a0001c0001t0003g0204 a0001c0001t0005g0149 a0001c0001t0005g0192 a0001c0001t0005g0219	4	221	0.0181	46	c.175 others(65): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(39): Show GACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04204.hp1 NA18965.hp2 others(2): Show HG03139.hp1 HG04204.hp1 NA18965.hp2 NA19043.hp2 NA19088.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0002c0002 a0006c0009 a0001c0005 a0002c0002 a0006c0009	a0001c0005t0001 a0002c0002t0001 a0006c0009t0001 a0001c0005t0001 a0002c0002t0001 a0006c0009t0001	a0001c0005t0001g0061 a0001c0005t0001g0348 a0002c0002t0001g0074 others(2): Show a0001c0005t0001g0061 a0001c0005t0001g0348 a0002c0002t0001g0074 a0002c0002t0001g0079 a0006c0009t0001g0358	5	368	0.0136	46	c.175 others(65): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18956.hp1 HG02258.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0081 a0001c0001t0019g0132 a0001c0001t0002g0081 a0001c0001t0019g0132	2	190	0.0105	46	c.126 others(65): Show c.126-48538_126-48537insTATACATATATATATATATATATATA TATATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0175 a0001c0001t0067g0175	1	190	0.0053	46	c.126 others(65): Show c.126-48538_126-48537insTATATATATATATATACATATATATA TATATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EHD2_chr19_47708422_47748134	47731300	A A	ATATATAT others(39): Show ATATATATATATACATATATATATATATACATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	398	0.0025	46	c.916 others(63): Show c.916-5067_916-5066insTATATATATACATATATATATATATACA TATATATATATATGTGTA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0066 a0001c0001t0012g0066	1	278	0.0036	46	c.59 others(57): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6056628	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	418	0.0024	46	c.119 others(63): Show c.119-1925_119-1924insCATATATATATATATATATATATATATA TATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(39): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02886.hp2 NA18952.hp2 others(1): Show HG01515.hp1 HG02886.hp2 NA18952.hp2 NA18966.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0009 a0001c0001t0002 a0003c0004t0009	a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0114 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0114 a0003c0004t0009g0020	4	350	0.0114	46	c.219 others(65): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0319 a0001c0001t0007g0319	1	336	0.0030	46	c.290 others(63): Show c.290-7774_290-7773insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	318	0.0031	46	c.580 others(63): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	366	0.0027	46	c.299 others(61): Show c.299-733_299-732insATATATATATATATATATATATATATATAT ATATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIPR1_chr2_3183970_3382818	3287866	C C	CCATGCTC others(39): Show CCATGCTCCAGAAAGCTCATTCAGCATGCTCCAGAAAGCTCATTCAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	250	0.0040	46	c.260 others(65): Show c.260-30412_260-30411insCTGAATGAGCTTTCTGGAGCATGCTG AATGAGCTTTCTGGAGCATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022551	T T	TTCCTTCC others(39): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA20300.hp2 HG04199.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0035 a0002c0002t0005g0005 a0002c0002t0005g0035	2	400	0.0050	46	c.-46 others(57): Show c.-4605_-4604insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4525		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113411	A A	AGAGAGAG others(39): Show AGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03130.hp1 HG01891.hp2 HG03130.hp1	a0005 a0005	a0005c0012 a0005c0021 a0005c0012 a0005c0021	a0005c0012t0007 a0005c0021t0007 a0005c0012t0007 a0005c0021t0007	a0005c0012t0007g0092 a0005c0021t0007g0093 a0005c0012t0007g0092 a0005c0021t0007g0093	2	230	0.0087	46	c.-77 others(55): Show c.-773_-772insGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		703		chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA19079.hp2 NA18973.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0182 a0001c0001t0010g0149 a0001c0001t0002g0182 a0001c0001t0010g0149	2	276	0.0073	46	c.61 others(57): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(39): Show AGAAAGAAAGAAAGAAAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	276	0.0036	46	c.60 others(57): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTTC TTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELL2_chr5_95880098_95966851	95927426	C C	CACACACG others(39): Show CACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	314	0.0032	46	c.196 others(63): Show c.196-7882_196-7881insATGTCTATATACACACGTGTGTGTATGT CTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(39): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA19002.hp2 HG02451.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0131 a0001c0001t0004g0030 a0001c0001t0001g0131 a0001c0001t0004g0030	2	312	0.0064	46	c.-47 others(57): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(39): Show GGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	312	0.0032	46	c.-47 others(57): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(39): Show GGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	312	0.0032	46	c.-47 others(57): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCCGCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(39): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	312	0.0032	46	c.-47 others(57): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL5_chr6_53262404_53353950	53305386	C C	CACCTCCC others(39): Show CACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18975.hp1 NA19090.hp1 HG02071.hp1 NA18975.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0128	3	320	0.0094	46	c.-8- others(61): Show c.-8-9680_-8-9679insAGGGGTCAGCCCCCGCCAGGCCAGCCGCCC CGTCCGGGAGGGAGGT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATGATA others(39): Show ATATGATATATATAACATATATGATATATATGATATATATAACATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	338	0.0030	46	c.221 others(65): Show c.221+21362_221+21363insATATGTTATATATATCATATATATCA TATATGTTATATATATCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATGATA others(39): Show ATATGATATATATAACATATATGCTATATATGATATATATAACATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	338	0.0030	46	c.221 others(65): Show c.221+21362_221+21363insATATGTTATATATATCATATATAGCA TATATGTTATATATATCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084227	T T	TATATATA others(39): Show TATATATAACATATAACTTATATGATATATAACATATAACTTATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0085 a0001c0001t0012g0085	1	338	0.0030	46	c.221 others(65): Show c.221+21269_221+21270insCATATAAGTTATATGTTATATATCAT ATAAGTTATATGTTATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084238	T T	TATAACTT others(39): Show TATAACTTATATGATATATATAACATATAACTTATATGATATATAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02818.hp2 others(20): Show HG01109.hp1 HG02622.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0045 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0078	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(20): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0226 a0001c0001t0009g0073 a0001c0001t0011g0004 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0015g0227 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0021g0069 a0001c0001t0022g0017 a0001c0001t0027g0254 a0001c0001t0045g0204 a0001c0001t0050g0039 a0001c0001t0051g0143 a0001c0001t0057g0109 a0001c0001t0078g0099	23	338	0.0681	46	c.221 others(65): Show c.221+21258_221+21259insGTTATATATCATATAAGTTATATGTT ATATATATCATATAAGTTAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	338	0.0030	46	c.90- others(63): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(39): Show AACACACACACACACACACACACACACACACACACACACCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0273 a0001c0001t0002g0274	2	364	0.0055	46	c.-30 others(55): Show c.-309_-308insACACACACACACACACACACACACACACACACACAC ACCCACACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar

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Search Results (Total: 3221 hits)