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
HLA-DQA1_chr6_32632406_32648684	32646865	C C	CAAAGACA others(37): Show CAAAGACAGACAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0025 a0006c0007t0005g0025	1	86	0.0116	44	c.39 others(55): Show c.3934_*3935insAAAGACAGACAGACAGAGAGAGAGAGAGAGAGAG AGAGAGAAAG	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding		3182		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18942.hp1 NA18984.hp1 HG03579.hp1 NA18942.hp1 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0003c0005t0027 a0001c0001t0003 a0001c0001t0005 a0003c0005t0027	a0001c0001t0003g0226 a0001c0001t0005g0056 a0003c0005t0027g0218 a0001c0001t0003g0226 a0001c0001t0005g0056 a0003c0005t0027g0218	3	258	0.0116	44	c.189 others(65): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAGGAA others(37): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0208 a0001c0001t0063g0208	1	258	0.0039	44	c.189 others(65): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(37): Show GTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0026 a0026	a0026c0139 a0026c0139	a0026c0139t0002 a0026c0139t0002	a0026c0139t0002g0180 a0026c0139t0002g0180	1	258	0.0039	44	c.235 others(63): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0002 a0006c0021t0002	a0006c0021t0002g0185 a0006c0021t0002g0185	1	258	0.0039	44	c.235 others(63): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18998.hp1 NA19030.hp1 HG01099.hp1 NA18998.hp1 NA19030.hp1	a0005 a0098 a0161 a0005 a0098 a0161	a0005c0015 a0098c0093 a0161c0178 a0005c0015 a0098c0093 a0161c0178	a0005c0015t0001 a0098c0093t0001 a0161c0178t0002 a0005c0015t0001 a0098c0093t0001 a0161c0178t0002	a0005c0015t0001g0143 a0098c0093t0001g0041 a0161c0178t0002g0227 a0005c0015t0001g0143 a0098c0093t0001g0041 a0161c0178t0002g0227	3	258	0.0116	44	c.235 others(63): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0136 a0136	a0136c0153 a0136c0153	a0136c0153t0002 a0136c0153t0002	a0136c0153t0002g0199 a0136c0153t0002g0199	1	258	0.0039	44	c.235 others(63): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18747.hp2 NA18954.hp1 HG02572.hp2 NA18747.hp2 NA18954.hp1	a0002 a0061 a0062 a0002 a0061 a0062	a0002c0005 a0061c0059 a0062c0049 a0002c0005 a0061c0059 a0062c0049	a0002c0005t0002 a0061c0059t0001 a0062c0049t0001 a0002c0005t0002 a0061c0059t0001 a0062c0049t0001	a0002c0005t0002g0193 a0061c0059t0001g0080 a0062c0049t0001g0004 a0002c0005t0002g0193 a0061c0059t0001g0080 a0062c0049t0001g0004	3	258	0.0116	44	c.235 others(63): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTTCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18993.hp1 NA18955.hp2 NA18993.hp1	a0091 a0092 a0091 a0092	a0091c0082 a0092c0086 a0091c0082 a0092c0086	a0091c0082t0001 a0092c0086t0001 a0091c0082t0001 a0092c0086t0001	a0091c0082t0001g0109 a0092c0086t0001g0130 a0091c0082t0001g0109 a0092c0086t0001g0130	2	258	0.0078	44	c.235 others(63): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCTTTCTT TCTTTCTTTCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGB2_chr4_173326376_173339358	173331387	T T	TATATGTA others(37): Show TATATGTATATATGTATATATATATACATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0031 a0001c0001t0023g0031	1	370	0.0027	44	c.69 others(53): Show c.692_*693insGTATATATATATATATATGTATATATATATACATAT ATACATAT	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding	5/5	692		chr4	TogoVar
HMGCLL1_chr6_55429373_55584192	55477438	T T	TAATATAA others(37): Show TAATATAATATATATTATATTATATATAATATATATAATATTATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	334	0.0030	44	c.795 others(63): Show c.795+17980_795+17981insTATAATATTATATATATTATATATAA TATAATATATATTATATT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01934.hp2 HG01981.hp1 others(4): Show HG01074.hp1 HG01934.hp2 HG01981.hp1 NA18973.hp2 NA18981.hp2 NA18986.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0004g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0004g0004 a0001c0001t0008g0019	7	414	0.0169	44	c.57 others(55): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMOX1_chr22_35376096_35399207	35389341	C C	CTCCTTCC others(37): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	384	0.0026	44	c.637 others(59): Show c.637-509_637-466dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMSD_chr18_63944301_63966835	63963046	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0030	1	404	0.0025	44	c.26 others(55): Show c.2691_*2692insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1212		chr18	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 NA18980.hp1 NA19004.hp2 others(2): Show HG00741.hp2 NA18980.hp1 NA19004.hp2 NA19067.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0138 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0138 a0001c0001t0003g0001	5	332	0.0151	44	c.62 others(55): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0010	1	348	0.0029	44	c.295 others(61): Show c.295-4283_295-4282insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0007 a0001c0003t0003g0007	1	348	0.0029	44	c.295 others(61): Show c.295-4283_295-4282insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(37): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0252 a0001c0001t0008g0252	1	326	0.0031	44	c.-39 others(59): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27146354	A A	ACCCACGC others(37): Show ACCCACGCTGAATTCATATGGGTCTCACGCTGAGATCTACTTTAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	326	0.0031	44	c.-49 others(63): Show c.-494+5933_-494+5934insATAAAGTAGATCTCAGCGTGAGACCC ATATGAATTCAGCGTGGG	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	1/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(37): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	398	0.0025	44	c.18 others(55): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXD8_chr2_176124705_176137695	176134362	G G	GCCCCACC others(37): Show GCCCCACCCCCCCCTCCCCCTCTCCCCCCCCCCCCCCCCCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	400	0.0025	44	c.27 others(55): Show c.2750_*2751insCCCCACCCCCCCCTCCCCCTCTCCCCCCCCCCCC CCCCCTCCGT	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding		1668		chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10305313	T T	TCTAGTTA others(37): Show TCTAGTTAAAGCCAGCCCTTTGTCTCAAGCAAGCCAGTGTTTTGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	314	0.0032	44	c.-11 others(63): Show c.-111+2138_-111+2181dupTAGTTAAAGCCAGCCCTTTGTCTCAA GCAAGCCAGTGTTTTGGC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10429378	T T	TGGTGAAT others(37): Show TGGTGAATGGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	314	0.0032	44	c.25 others(55): Show c.2557_*2558insGGTGAATGGGTGGGTGGGTGGGTGGATGGATAGG TGGATGGGTG	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding		1775		chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10429569	T T	TGGGTGGA others(37): Show TGGGTGGATGGATGGATGGGTGGGTGGGTGAATGGTTGGGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0206 a0001c0001t0001g0231	2	314	0.0064	44	c.27 others(55): Show c.2748_*2749insGGGTGGATGGATGGATGGGTGGGTGGGTGAATGG TTGGGTGGGC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding		1966		chr2	TogoVar
HPRT1_chrX_134455165_134505668	134492048	C C	CACACACA others(37): Show CACACACACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	276	0.0036	44	c.403 others(61): Show c.403-1459_403-1458insCACACACACACACACACACACACACACA TATATATATATATATA	HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
HRC_chr19_49146198_49160396	49155783	G G	GATTGCGG others(37): Show GATTGCGGGGTGTTTCCAGCTGGAATGATACGTGCTGGTGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0009 a0008c0009t0001g0009	1	406	0.0025	44	c.-54 others(53): Show c.-547_-546insTCTCTCACCAGCACGTATCATTCCAGCTGGAAACAC CCCGCAAT	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		388		chr19	TogoVar
HRH3_chr20_62209960_62225278	62212940	G G	GGGGAGGG others(37): Show GGGGAGGGAGAGTGGGGATGGGGGGTAAGGAGAGCGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(75): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG03579.hp2 HG04184.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp2 NA19066.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0008g0043 a0001c0001t0010g0044 a0001c0002t0001g0002 a0001c0003t0001g0025 a0001c0004t0001g0013 a0002c0009t0001g0041	78	368	0.2120	44	c.30 others(55): Show c.3065_*3066insACCCATCCCCGCTCTCCTTACCCCCCATCCCCAC TCTCCCTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2019		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213287	A A	AGGAGAGC others(37): Show AGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19081.hp2 NA18979.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	368	0.0054	44	c.27 others(55): Show c.2718_*2719insCTCCCCCATCCCCGCTCTCCTTCCCCCACCCATC CCCGCTCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1672		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213485	A A	AGGAGAGT others(37): Show AGGAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGGGATGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	44	c.25 others(55): Show c.2520_*2521insCTCCCCCATCCCCACTCTCCTTCCCCCACCCATC CCCACTCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1474		chr20	TogoVar
HS3ST2_chr16_22809162_22921338	22818819	T T	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCATTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02280.hp1 others(5): Show HG01884.hp2 HG02145.hp1 HG02280.hp1 HG03139.hp1 HG03516.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0216 a0001c0001t0001g0287 a0001c0001t0001g0294 others(5): Show a0001c0001t0001g0216 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0002t0001g0008 a0001c0002t0001g0061 a0001c0004t0002g0149	8	350	0.0229	44	c.485 others(61): Show c.485+3739_485+3740insTTCATTCCTTCCTTCCTTCATTCCTTCC CTCCTTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22837509	G G	GTGTATAT others(37): Show GTGTATATATATACACATATATATACACAGATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0014 a0001c0005t0002g0014	1	350	0.0029	44	c.485 others(63): Show c.485+22429_485+22472dupCATATATATACACAGATATATGTATA TATATGTATATATATACA	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAAGA others(37): Show AAGAAAGAAAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	432	0.0023	44	c.555 others(63): Show c.555-15660_555-15659insGAAAGAAAGAAAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST4_chr16_25686959_26142685	26136807	G G	GTTCTCGC others(37): Show GTTCTCGCTCATCCAGCCCACGTCATGAGACTTCAGTTCTTGTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	164	0.0061	44	c.55 others(53): Show c.559_*560insTTCTCGCTCATCCAGCCCACGTCATGAGACTTCAGT TCTTGTCT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	2/2	560		chr16	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	394	0.0025	44	c.369 others(61): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	394	0.0025	44	c.369 others(61): Show c.369+5125_369+5126insGTGTGTATATATATATATATATATATAT ATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSF1_chr8_144286604_144319720	144313699	C C	CCCGCACC others(37): Show CCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18988.hp2 NA19007.hp1 others(1): Show HG02027.hp1 NA18988.hp2 NA19007.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0184 a0001c0001t0001g0227 a0002c0002t0001g0160 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0227 a0002c0002t0001g0160 a0002c0002t0001g0285	4	330	0.0121	44	c.124 others(59): Show c.1248+87_1248+88insACCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(37): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG02895.hp1 HG01070.hp2 HG01192.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0002g0172 a0001c0001t0002g0240 a0001c0001t0001g0239 a0001c0001t0002g0172 a0001c0001t0002g0240	3	320	0.0094	44	c.40+ others(61): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0106 a0001c0001t0014g0106	1	364	0.0028	44	c.909 others(61): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HTR1D_chr1_23186895_23222502	23218508	T T	TTTGGTTG others(37): Show TTTGGTTGGTTGGTTGGTTGGTTTGTTGGTTGGTTGGTTGGTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	356	0.0028	44	c.-20 others(55): Show c.-2001_-2000insCCAACCAACCAACCAACCAACAAACCAACCAACC AACCAACCAA	HTR1D	ENSG00000179546.5	transcript	ENST00000374619.2	protein_coding		1007		chr1	TogoVar
HTRA3_chr4_8264754_8312098	8294615	T T	TCCACCCA others(37): Show TCCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTCAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 NA18951.hp1 HG01261.hp2 HG01891.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0255 a0001c0001t0002g0128 a0001c0001t0002g0193 a0001c0001t0001g0255 a0001c0001t0002g0128 a0001c0001t0002g0193	3	388	0.0077	44	c.105 others(61): Show c.1051+417_1051+418insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294619	T T	TCCACCCA others(37): Show TCCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTCAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	388	0.0026	44	c.105 others(61): Show c.1051+421_1051+422insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3169003	A A	ATTCTTTC others(37): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG02886.hp1 others(1): Show HG01243.hp2 HG01255.hp2 HG02886.hp1 HG02896.hp1	a0014 a0022 a0049 a0014 a0022 a0049	a0014c0014 a0022c0023 a0049c0063 a0014c0014 a0022c0023 a0049c0063	a0014c0014t0003 a0022c0023t0003 a0049c0063t0011 a0014c0014t0003 a0022c0023t0003 a0049c0063t0011	a0014c0014t0003g0014 a0014c0014t0003g0015 a0022c0023t0003g0016 others(1): Show a0014c0014t0003g0014 a0014c0014t0003g0015 a0022c0023t0003g0016 a0049c0063t0011g0203	4	294	0.0136	44	c.386 others(63): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(37): Show AATAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02083.hp1 HG02129.hp2 others(5): Show HG01952.hp2 HG02083.hp1 HG02129.hp2 HG02273.hp1 HG04228.hp1 NA18945.hp1 NA18983.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0077 others(5): Show a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0092	8	296	0.0270	44	c.372 others(61): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0058 a0002c0009t0002g0058	1	296	0.0034	44	c.372 others(61): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	330	0.0030	44	c.-7- others(61): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
IER3_chr6_30738199_30749547	30746567	T T	TATATATA others(37): Show TATATATATATATATATATATAAATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	449	0.0022	44	c.-20 others(55): Show c.-2050_-2049insTTATATATATATATATATATATTTATATATATAT ATATATATAT	IER3	ENSG00000137331.12	transcript	ENST00000259874.6	protein_coding		2021		chr6	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(37): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03486.hp1 NA18522.hp2 HG02071.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0012g0067 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0012g0067	3	376	0.0080	44	c.666 others(61): Show c.666-4840_666-4839insTCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(37): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	376	0.0027	44	c.666 others(61): Show c.666-4840_666-4839insTCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	44	c.-58 others(53): Show c.-586_-585insATATATATATATATATATATATATATATATATATAT ATATATAT	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		412		chr19	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(37): Show CATACATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03486.hp1 NA18959.hp2 others(5): Show HG02922.hp2 HG03486.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp2 NA18982.hp2 NA18990.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0246 a0001c0001t0001g0248	8	358	0.0224	44	c.20 others(55): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar

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Search Results (Total: 4475 hits)