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
ZMAT4_chr8_40525590_40902826	40601470	A A	AAGGGAGG others(28): Show AAGGGAGGAAGAAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	228	0.0044	35	c.578 others(54): Show c.578-20210_578-20209insCTTTCTTTCTTTCTTTCTTTCCTTTC TTCCTCCCT	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40746302	C C	CTTCCTTT others(28): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02683.hp2 HG02735.hp2 HG02004.hp1 HG02683.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0190	3	228	0.0132	35	c.192 others(54): Show c.192+21304_192+21338dupAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAA	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	3/6			chr8	TogoVar
ZMPSTE24_chr1_40253236_40299180	40273537	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	394	0.0025	35	c.769 others(52): Show c.769+1503_769+1504insAAAAAAAAAAATATATATATATATATAT ATATATA	ZMPSTE24	ENSG00000084073.10	transcript	ENST00000372759.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF143_chr11_9456012_9533524	9486387	A A	ATATTATA others(28): Show ATATTATATATATATATAATTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp1 HG01952.hp1 others(1): Show HG01346.hp2 HG01516.hp1 HG01952.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 others(1): Show a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0325	4	332	0.0121	35	c.645 others(52): Show c.645+6841_645+6842insTATTATATATATATATAATTATATATAT ATATATT	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	7/15			chr11	TogoVar
ZNF143_chr11_9456012_9533524	9486452	T T	TATATATA others(28): Show TATATATAATTATATATATATAATTATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG01975.hp2 others(3): Show HG01261.hp1 HG01358.hp2 HG01975.hp2 HG01978.hp2 HG03669.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0326 others(3): Show a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329	6	332	0.0181	35	c.645 others(52): Show c.645+6908_645+6909insATATAATTATATATATATAATTATATAT ATATAAT	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF14_chr19_19705472_19738112	19713930	G G	GATTTATT others(28): Show GATTTATTTTTCACATCCTGAACATCTATGATGTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0109 a0005c0012t0001g0109	1	398	0.0025	35	c.191 others(50): Show c.191+126_191+160dupAAACATCATAGATGTTCAGGATGTGAAAAA TAAAT	ZNF14	ENSG00000105708.9	transcript	ENST00000344099.4	protein_coding	3/3			chr19	TogoVar
ZNF185_chrX_152893067_152978474	152898108	A A	ACCGCGCC others(28): Show ACCGCGCCCCGCGCCCCGCGCCCCGCGCCCCGCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp2 NA19030.hp2 HG02109.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0020 a0002c0002t0019 a0002c0002t0020	a0002c0002t0019g0009 a0002c0002t0020g0010 a0002c0002t0019g0009 a0002c0002t0020g0010	2	260	0.0077	35	c.-15 others(44): Show c.-155_-154insCCGCGCCCCGCGCCCCGCGCCCCGCGCCCCGCGCC	ZNF185	ENSG00000147394.20	transcript	ENST00000695776.1	protein_coding	1/25	16360	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF197_chr3_44620036_44653471	44626156	T T	TTGGTTTT others(28): Show TTGGTTTTTGGTGGGGTTGTGTGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	312	0.0032	35	c.-82 others(52): Show c.-82+1013_-82+1014insTGGTTTTTGGTGGGGTTGTGTGGGGGGT GGGGGTG	ZNF197	ENSG00000186448.15	transcript	ENST00000344387.9	protein_coding	1/5			chr3	TogoVar
ZNF253_chr19_19860882_19899674	19865545	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	370	0.0027	35	c.-45 others(44): Show c.-452_-451insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		336		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19865547	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	370	0.0027	35	c.-45 others(44): Show c.-450_-449insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		334		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19865569	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0269 a0008c0012t0001g0269	1	370	0.0027	35	c.-42 others(44): Show c.-428_-427insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		312		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19865569	G G	GGAAAGAA others(28): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	370	0.0027	35	c.-42 others(44): Show c.-428_-427insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		312		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19865679	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	370	0.0027	35	c.-31 others(44): Show c.-318_-317insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		202		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19872580	T T	TATATATA others(28): Show TATATATATATATATATATATTATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	370	0.0027	35	c.4-5 others(48): Show c.4-5901_4-5900insATATATATATATATATATATTATTATATATAT ATA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	1/3			chr19	TogoVar
ZNF253_chr19_19860882_19899674	19872580	T T	TATATATA others(28): Show TATATATATATATATATATTATTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	370	0.0027	35	c.4-5 others(48): Show c.4-5901_4-5900insATATATATATATATATATTATTATATATATAT ATA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	1/3			chr19	TogoVar
ZNF253_chr19_19860882_19899674	19872580	T T	TATATATA others(28): Show TATATATATATATATATTATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG03130.hp2 HG02818.hp1 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0233 a0001c0004t0006g0237 a0001c0004t0006g0238 a0001c0004t0006g0233 a0001c0004t0006g0237 a0001c0004t0006g0238	3	370	0.0081	35	c.4-5 others(48): Show c.4-5901_4-5900insATATATATATATATATTATTATATATATATAT ATA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	1/3			chr19	TogoVar
ZNF253_chr19_19860882_19899674	19873230	A A	ATGACCAC others(28): Show ATGACCACAACTATATTTACCTGTAAAATGGGATAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02602.hp2 HG01256.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0082 a0001c0001t0003g0083	2	370	0.0054	35	c.4-5 others(48): Show c.4-5248_4-5214dupACCACAACTATATTTACCTGTAAAATGGGATA CTG	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF254_chr19_24082187_24134968	24085426	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	371	0.0027	35	c.-18 others(46): Show c.-1882_-1881insTATATATATATATATATATATATATATATATATA T	ZNF254	ENSG00000213096.11	transcript	ENST00000357002.5	protein_coding		1760		chr19	TogoVar
ZNF273_chr7_64898273_64935981	64912826	G G	GTTTTTTG others(28): Show GTTTTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0278	1	422	0.0024	35	c.103 others(52): Show c.103-4749_103-4748insGTTGTTGTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ZNF273	ENSG00000198039.12	transcript	ENST00000476120.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF286A_chr17_15694752_15725787	15723859	G G	GTATTTTG others(28): Show GTATTTTGTTTCTTCTTTTATTATCTAATTGAAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0162 a0002c0002t0162	a0002c0002t0162g0208 a0002c0002t0162g0208	1	444	0.0023	35	c.65 others(46): Show c.6569_*6570insTATTTTGTTTCTTCTTTTATTATCTAATTGAAGT C	ZNF286A	ENSG00000187607.16	transcript	ENST00000583566.6	protein_coding		3073		chr17	TogoVar
ZNF333_chr19_14685048_14726899	14690093	T T	TGCGCGGC others(28): Show TGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0185 a0001c0002t0038g0185	1	386	0.0026	35	c.-83 others(42): Show c.-83_-82insCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGG	ZNF333	ENSG00000160961.12	transcript	ENST00000292530.11	protein_coding	1/12	3382	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF335_chr20_45943660_45977203	45973191	T T	TCAACTAC others(28): Show TCAACTACCTATCCTTTAAAAGTGGAGAAAGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0038 a0001c0003t0002g0038	1	428	0.0023	35	c.-11 others(46): Show c.-1121_-1120insTTTTTCTTTCTCCACTTTTAAAGGATAGGTAGTT G	ZNF335	ENSG00000198026.8	transcript	ENST00000322927.3	protein_coding		989		chr20	TogoVar
ZNF341_chr20_33726996_33797269	33764562	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	332	0.0030	35	c.122 others(54): Show c.1223-2289_1223-2288insATATATATATATATATATATATATAT ATATATATA	ZNF341	ENSG00000131061.15	transcript	ENST00000375200.6	protein_coding	8/14			chr20	TogoVar
ZNF354A_chr5_178706512_178735659	178719218	T T	TAGGCATC others(28): Show TAGGCATCGGTGATCCACAGTTCCCTACGGATCCAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	414	0.0024	35	c.257 others(52): Show c.257-5632_257-5598dupCTGGATCCGTAGGGAACTGTGGATCACC GATGCCT	ZNF354A	ENSG00000169131.13	transcript	ENST00000335815.7	protein_coding	4/4			chr5	TogoVar
ZNF365_chr10_62369369_62407450	62370653	T T	TCATATAT others(28): Show TCATATATACCATATATATCATATATACCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	350	0.0029	35	c.-38 others(46): Show c.-3819_-3818insCATATATACCATATATATCATATATACCATATAT A	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3715		chr10	TogoVar
ZNF366_chr5_72434903_72512410	72462544	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	368	0.0027	35	c.-14 others(52): Show c.-14-1035_-14-1034insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	ZNF366	ENSG00000178175.12	transcript	ENST00000318442.6	protein_coding	1/4			chr5	TogoVar
ZNF366_chr5_72434903_72512410	72462548	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG04228.hp2 HG03471.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0012 a0001c0003 a0002c0012	a0001c0003t0001 a0002c0012t0005 a0001c0003t0001 a0002c0012t0005	a0001c0003t0001g0129 a0002c0012t0005g0148 a0001c0003t0001g0129 a0002c0012t0005g0148	2	368	0.0054	35	c.-14 others(52): Show c.-14-1039_-14-1038insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	ZNF366	ENSG00000178175.12	transcript	ENST00000318442.6	protein_coding	1/4			chr5	TogoVar
ZNF37A_chr10_38089337_38129625	38129304	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	386	0.0026	35	c.10 others(48): Show c.10467_*10468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ZNF37A	ENSG00000075407.19	transcript	ENST00000685332.1	protein_coding		4680		chr10	TogoVar
ZNF37A_chr10_38089337_38129625	38129319	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	386	0.0026	35	c.10 others(48): Show c.10482_*10483insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAC	ZNF37A	ENSG00000075407.19	transcript	ENST00000685332.1	protein_coding		4695		chr10	TogoVar
ZNF37A_chr10_38089337_38129625	38129319	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0114 a0001c0005t0011g0114	1	386	0.0026	35	c.10 others(48): Show c.10482_*10483insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC AAC	ZNF37A	ENSG00000075407.19	transcript	ENST00000685332.1	protein_coding		4695		chr10	TogoVar
ZNF383_chr19_37213214_37253740	37253557	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0134 a0001c0001t0084g0134	1	404	0.0025	35	c.98 others(46): Show c.9893_*9894insTATATATATATATATATATATATATATATATATA T	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding		4818		chr19	TogoVar
ZNF383_chr19_37213214_37253740	37253559	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	404	0.0025	35	c.98 others(46): Show c.9895_*9896insAAAAAAAAAAAAAAAATATATATATATATATATA T	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding		4820		chr19	TogoVar
ZNF383_chr19_37213214_37253740	37253559	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	404	0.0025	35	c.98 others(46): Show c.9895_*9896insAAAAAAAATATATATATATATATATATATATATA T	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding		4820		chr19	TogoVar
ZNF391_chr6_27383759_27408908	27400235	A A	ATTTTCTT others(28): Show ATTTTCTTTGCTCTCCACAGTAGATACAGATGACAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	404	0.0025	35	c.-78 others(48): Show c.-78-42_-78-41insCAGTAGATACAGATGACATTTTTCTTTGCTCT CCA	ZNF391	ENSG00000124613.9	transcript	ENST00000244576.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZNF423_chr16_49482524_49861112	49646574	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0167 a0001c0003t0009g0167	1	196	0.0051	35	c.302 others(52): Show c.302-7701_302-7700insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49677228	A A	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01168.hp1 others(13): Show HG00642.hp2 HG01069.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG02080.hp1 HG02155.hp2 HG02486.hp1 HG02717.hp2 HG03492.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA18960.hp1 NA18977.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 a0001c0002t0035 a0001c0003t0008 a0001c0003t0039 a0001c0004t0001 a0002c0008t0002	a0001c0001t0001g0079 a0001c0001t0001g0174 a0001c0001t0002g0015 others(13): Show a0001c0001t0001g0079 a0001c0001t0001g0174 a0001c0001t0002g0015 a0001c0001t0002g0088 a0001c0001t0002g0121 a0001c0001t0014g0034 a0001c0001t0027g0035 a0001c0002t0002g0140 a0001c0002t0003g0012 a0001c0002t0019g0029 a0001c0002t0019g0168 a0001c0002t0035g0028 a0001c0003t0008g0164 a0001c0003t0039g0098 a0001c0004t0001g0127 a0002c0008t0002g0018	16	196	0.0816	35	c.302 others(54): Show c.302-38355_302-38354insCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTT	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49677285	A A	AGAGAAGA others(28): Show AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0075 a0001c0006t0001g0075	1	196	0.0051	35	c.302 others(54): Show c.302-38412_302-38411insATCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTC	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF425_chr7_149097784_149131324	149128755	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00621.hp2 others(14): Show HG00099.hp2 HG00609.hp1 HG00621.hp2 HG01175.hp2 HG01515.hp1 HG02074.hp1 HG02074.hp2 HG02615.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18944.hp2 NA18971.hp2 NA18989.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0045 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172	17	320	0.0531	35	c.-25 others(46): Show c.-2543_-2542insATTTTATTTTATTTTATTTTATTTTATTTTATTT T	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding		2432		chr7	TogoVar
ZNF473_chr19_50021005_50053776	50037581	G G	GAGGCAGG others(28): Show GAGGCAGGGGCAGGAAGTAAATAAAAAAAGAAGAAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	416	0.0024	35	c.10- others(50): Show c.10-1566_10-1565insAGTAAATAAAAAAAGAAGAATAGGCAGGGG CAGGA	ZNF473	ENSG00000142528.16	transcript	ENST00000270617.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF486_chr19_20162214_20205488	20175331	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01952.hp1 HG03490.hp2 others(1): Show HG00733.hp2 HG01952.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0035 a0001c0001t0001g0262 a0001c0001t0001g0263	4	382	0.0105	35	c.30+ others(50): Show c.30+7990_30+7991insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ZNF486	ENSG00000256229.8	transcript	ENST00000335117.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF493_chr19_21392133_21432577	21420623	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	360	0.0028	35	c.254 others(52): Show c.254-2289_254-2288insATATATATATATATATATATATATATAT ATATATT	ZNF493	ENSG00000196268.12	transcript	ENST00000392288.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF516_chr18_76352682_76500242	76392504	G G	GTGGGAAG others(28): Show GTGGGAAGGTAGGTGGCCAGGTGGGGGAAAGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(16): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG01167.hp1 HG01934.hp2 HG02040.hp1 HG03490.hp1 HG03492.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18963.hp2 NA18973.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0033 others(1): Show a0001c0001 a0001c0002 a0001c0033 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0041 a0001c0001t0085 a0001c0001t0146 a0001c0001t0147 a0001c0001t0171 a0001c0001t0180 a0001c0001t0184 a0001c0001t0185 a0001c0002t0016 a0001c0033t0003 a0005c0008t0038	a0001c0001t0001g0296 a0001c0001t0002g0141 a0001c0001t0003g0258 others(16): Show a0001c0001t0001g0296 a0001c0001t0002g0141 a0001c0001t0003g0258 a0001c0001t0006g0261 a0001c0001t0009g0140 a0001c0001t0015g0142 a0001c0001t0015g0143 a0001c0001t0017g0171 a0001c0001t0041g0175 a0001c0001t0085g0032 a0001c0001t0146g0332 a0001c0001t0147g0325 a0001c0001t0171g0150 a0001c0001t0180g0322 a0001c0001t0184g0262 a0001c0001t0185g0323 a0001c0002t0016g0172 a0001c0033t0003g0260 a0005c0008t0038g0327	19	346	0.0549	35	c.181 others(56): Show c.1811-12236_1811-12202dupTCCACCTTTCCCCCACCTGGCCAC CTACCTTCCCA	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392522	A A	AGGTGGGG others(28): Show AGGTGGGGGAAAGGTGGATGGGAAGGTAGGTGGCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02965.hp1 others(6): Show HG02109.hp2 HG02486.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0004 a0001c0014 others(6): Show a0001c0001 a0001c0004 a0001c0014 a0001c0031 a0001c0032 a0003c0048 a0004c0017 a0004c0030 a0010c0047	a0001c0001t0008 a0001c0004t0100 a0001c0014t0008 others(6): Show a0001c0001t0008 a0001c0004t0100 a0001c0014t0008 a0001c0031t0098 a0001c0032t0008 a0003c0048t0028 a0004c0017t0064 a0004c0030t0176 a0010c0047t0063	a0001c0001t0008g0271 a0001c0004t0100g0039 a0001c0014t0008g0028 others(6): Show a0001c0001t0008g0271 a0001c0004t0100g0039 a0001c0014t0008g0028 a0001c0031t0098g0273 a0001c0032t0008g0133 a0003c0048t0028g0036 a0004c0017t0064g0014 a0004c0030t0176g0134 a0010c0047t0063g0343	9	346	0.0260	35	c.181 others(56): Show c.1811-12220_1811-12219insCGGCCACCTACCTTCCCATCCACC TTTCCCCCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76491545	G G	GCGGGGGG others(28): Show GCGGGGGGCGGGGGGCGGGCGCCGGGGGGCGGGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(26): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00741.hp1 HG01167.hp1 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02523.hp1 NA18944.hp1 NA18949.hp1 NA18949.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18971.hp2 NA18977.hp1 NA18993.hp2 NA19000.hp2 NA19001.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19081.hp2 NA20752.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0033 others(2): Show a0001c0001 a0001c0002 a0001c0033 a0005c0008 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0041 a0001c0001t0043 a0001c0001t0080 a0001c0001t0085 a0001c0001t0138 a0001c0001t0140 a0001c0001t0146 a0001c0002t0016 a0001c0002t0033 a0001c0002t0037 a0001c0002t0046 a0001c0002t0096 a0001c0002t0164 a0001c0033t0003 a0005c0008t0038 a0007c0015t0021	a0001c0001t0001g0296 a0001c0001t0002g0115 a0001c0001t0002g0253 others(26): Show a0001c0001t0001g0296 a0001c0001t0002g0115 a0001c0001t0002g0253 a0001c0001t0002g0340 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0004g0339 a0001c0001t0006g0256 a0001c0001t0006g0261 a0001c0001t0010g0255 a0001c0001t0016g0331 a0001c0001t0017g0171 a0001c0001t0020g0328 a0001c0001t0041g0175 a0001c0001t0043g0329 a0001c0001t0080g0174 a0001c0001t0085g0032 a0001c0001t0138g0173 a0001c0001t0140g0254 a0001c0001t0146g0332 a0001c0002t0016g0172 a0001c0002t0033g0252 a0001c0002t0037g0326 a0001c0002t0046g0176 a0001c0002t0096g0333 a0001c0002t0164g0330 a0001c0033t0003g0260 a0005c0008t0038g0327 a0007c0015t0021g0259	29	346	0.0838	35	c.-27 others(54): Show c.-272+3598_-272+3599insGCGCCCGCCCCCCGGCGCCCGCCCCC CGCCCCCCG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	1/6			chr18	TogoVar
ZNF532_chr18_58859877_58991480	58888843	A A	ATATATAT others(28): Show ATATATATATAATTTATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0239 a0001c0001t0011g0239	1	354	0.0028	35	c.-18 others(54): Show c.-18+23289_-18+23290insTAATATATATTATATATATAATTTAT ATATATATA	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF532_chr18_58859877_58991480	58935176	A A	ACTCCTCC others(28): Show ACTCCTCCTCCTCCCCACTCCTCCTCCTCCCCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01884.hp1 others(4): Show HG01069.hp1 HG01167.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0004	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 others(4): Show a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0005g0256 a0001c0001t0006g0262 a0001c0001t0006g0303 a0001c0003t0004g0263	7	354	0.0198	35	c.252 others(52): Show c.2528+577_2528+578insACTCCTCCTCCTCCCCTTTCCTCCTCCT CCTCCCC	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF532_chr18_58859877_58991480	58936010	A A	ATCTCATG others(28): Show ATCTCATGCCTCCAAACTTGTAATGCACAAATGTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0269 a0001c0001t0006g0269	1	354	0.0028	35	c.252 others(54): Show c.2528+1398_2528+1432dupCTCATGCCTCCAAACTTGTAATGCAC AAATGTTTT	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF546_chr19_39992060_40026038	40022173	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	244	0.0041	35	c.63 others(46): Show c.6392_*6393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ZNF546	ENSG00000187187.14	transcript	ENST00000347077.9	protein_coding		1136		chr19	TogoVar
ZNF586_chr19_57764676_57785616	57783823	T T	TATTTTCT others(28): Show TATTTTCTCCTTGAATTACTTACTCTAAAACAAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	410	0.0024	35	c.40 others(46): Show c.4027_*4028insATTTTCTCCTTGAATTACTTACTCTAAAACAAGT A	ZNF586	ENSG00000083828.16	transcript	ENST00000396154.7	protein_coding		3208		chr19	TogoVar
ZNF589_chr3_48236104_48275990	48239138	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0143 a0003c0003t0003g0143	1	304	0.0033	35	c.-20 others(46): Show c.-2034_-2033insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATA C	ZNF589	ENSG00000164048.14	transcript	ENST00000354698.8	protein_coding		1965		chr3	TogoVar

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Search Results (Total: 4618 hits)