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
INTU_chr4_127627957_127731737	127691962	G G	GTGTGTGT others(35): Show GTGTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG03098.hp1 others(1): Show HG02109.hp1 HG02258.hp2 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0123 a0001c0001t0010g0126 a0001c0001t0018g0007 a0001c0001t0010g0123 a0001c0001t0010g0126 a0001c0001t0018g0007	4	358	0.0112	42	c.144 others(61): Show c.1449+4096_1449+4097insGTGTGTATATATATATATATATATAT ATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPO11_chr5_62407763_62633582	62435110	G G	GTATATAT others(35): Show GTATATATATGTATATATATGTATATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	330	0.0030	42	c.-6- others(57): Show c.-6-2157_-6-2156insATGTATATATATGTATATATATGTATATAT ATGTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62503300	C C	CAGTATCT others(35): Show CAGTATCTATTAATATATTAATAGTATCTACTAATATATTAAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02809.hp1 HG02738.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0311 a0001c0001t0001g0154 a0001c0001t0001g0311	2	330	0.0061	42	c.159 others(61): Show c.1591-1295_1591-1254dupCTAATATATTAATAGTATCTATTAAT ATATTAATAGTATCTA	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62503309	T T	TTAATATA others(35): Show TTAATATATTAATAGTATCTACTAATATATTAATAGTATCTAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	330	0.0030	42	c.159 others(61): Show c.1591-1317_1591-1316insCTAATATATTAATAGTATCTACTAAT ATATTAATAGTATCTA	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62598432	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	330	0.0030	42	c.267 others(61): Show c.2679-3331_2679-3330insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	314	0.0032	42	c.85- others(57): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA TATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04115.hp1 HG03834.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0003g0126 a0001c0001t0001g0087 a0001c0001t0003g0126	2	314	0.0064	42	c.85- others(57): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATATA TATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01168.hp1 others(2): Show HG00735.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0127 a0001c0001t0001g0134	5	314	0.0159	42	c.85- others(57): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATATATATATA TATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18970.hp2 NA18982.hp2 others(1): Show HG03225.hp1 NA18970.hp2 NA18982.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0139	4	314	0.0127	42	c.85- others(57): Show c.85-5948_85-5947insAAAAAAAATATATATATATATATATATATA TATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	314	0.0032	42	c.85- others(57): Show c.85-5948_85-5947insAAAAAATATATATATATATATATATATATA TATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	314	0.0032	42	c.85- others(57): Show c.85-5948_85-5947insAAAAAATATATATATATATATATATATATA TATGTATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18522.hp1 NA18978.hp1 HG03654.hp1 NA18522.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0078 a0001c0001t0001g0121 a0001c0001t0001g0029 a0001c0001t0001g0078 a0001c0001t0001g0121	3	314	0.0096	42	c.85- others(57): Show c.85-5948_85-5947insAAAATATATATATATATATATATATATATA TATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18968.hp2 HG01175.hp1 NA18968.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0083 a0003c0003t0001g0081 a0001c0001t0001g0083 a0003c0003t0001g0081	2	208	0.0096	42	c.187 others(61): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTCTATAT others(35): Show CTCTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0132 a0001c0004t0002g0132	1	208	0.0048	42	c.187 others(61): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATATATATAGA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459595	G G	GTATATAT others(35): Show GTATATATGTGTATACATACGTATATACGTATACGTATACATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	208	0.0048	42	c.926 others(59): Show c.926+5909_926+5910insTATGTATACGTATACGTATATACGTATG TATACACATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236491163	A A	ATATATAT others(35): Show ATATATATATATACACAGTATATATATATATATATATACACAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0115 a0003c0006t0001g0115	1	208	0.0048	42	c.456 others(59): Show c.456+2604_456+2605insCTGTGTATATATATATATATATATACTG TGTATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236491194	A A	ATATATAT others(35): Show ATATATATATATATACACAGTATATATATATATATACACACAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	208	0.0048	42	c.456 others(59): Show c.456+2573_456+2574insCTGTGTGTATATATATATATATACTGTG TATATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
IQCH_chr15_67249786_67506804	67504968	T T	TTTTGTGT others(35): Show TTTTGTGTTGTGTTGTTGATTTTGAATGGTTGTTGGTTTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	276	0.0036	42	c.42 others(53): Show c.4222_*4223insTTTGTGTTGTGTTGTTGATTTTGAATGGTTGTTG GTTTGTGG	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding		3165		chr15	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03579.hp2 NA18950.hp2 HG01433.hp1 HG03579.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0002g0071 a0001c0001t0004g0064 a0001c0001t0002g0024 a0001c0001t0002g0071 a0001c0001t0004g0064	3	252	0.0119	42	c.10- others(59): Show c.10-45723_10-45722insATATATATATATATATATATATATATAT ATATATATATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	244	0.0041	42	c.690 others(59): Show c.690+9500_690+9501insAAAAAAAAAAAAAAAAAAAAAAAATATA TATATATATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	244	0.0041	42	c.690 others(59): Show c.690+9500_690+9501insAAAATATATATATATATATATATATATA TATATATATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18747.hp2 NA19066.hp1 HG03017.hp1 NA18747.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0209 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0209	3	252	0.0119	42	c.566 others(59): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT ATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IRAG2_chr12_25047706_25113335	25077308	G G	GATATATA others(35): Show GATATATATGATATATATATGATATATATATGATATATATGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	344	0.0029	42	c.25- others(57): Show c.25-1904_25-1903insTATATATGATATATATATGATATATATATG ATATATATATGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02027.hp1 HG02698.hp2 others(1): Show HG01106.hp1 HG02027.hp1 HG02698.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0355 a0001c0002t0005g0370 others(1): Show a0001c0002t0005g0006 a0001c0002t0005g0355 a0001c0002t0005g0370 a0001c0002t0005g0371	4	420	0.0095	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01884.hp2 HG01516.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0359 a0001c0002t0005g0360 a0001c0002t0005g0359 a0001c0002t0005g0360	2	420	0.0048	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCGCACA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19007.hp2 NA18942.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0036 a0001c0002t0004 a0001c0002t0036	a0001c0002t0004g0151 a0001c0002t0036g0015 a0001c0002t0004g0151 a0001c0002t0036g0015	2	420	0.0048	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCACACACACA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02027.hp2 HG02129.hp2 others(7): Show HG00423.hp1 HG02027.hp2 HG02129.hp2 HG02280.hp2 HG02486.hp1 HG03098.hp1 HG03540.hp1 NA18992.hp2 NA19067.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0002t0012 a0001c0002t0022 others(2): Show a0001c0002t0004 a0001c0002t0012 a0001c0002t0022 a0001c0002t0037 a0001c0009t0004	a0001c0002t0004g0014 a0001c0002t0004g0146 a0001c0002t0004g0158 others(7): Show a0001c0002t0004g0014 a0001c0002t0004g0146 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0173 a0001c0002t0012g0154 a0001c0002t0022g0145 a0001c0002t0022g0163 a0001c0002t0037g0161 a0001c0009t0004g0016	10	420	0.0238	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCACACACA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03209.hp1 NA18960.hp1 HG02109.hp2 HG03209.hp1 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0034 a0002c0003t0010 a0001c0001t0007 a0001c0001t0034 a0002c0003t0010	a0001c0001t0007g0336 a0001c0001t0034g0119 a0002c0003t0010g0129 a0001c0001t0007g0336 a0001c0001t0034g0119 a0002c0003t0010g0129	3	420	0.0071	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCACACA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp1 NA19087.hp2 HG02451.hp1 HG02922.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021	a0001c0001t0006g0107 a0001c0001t0009g0179 a0001c0001t0021g0026 a0001c0001t0006g0107 a0001c0001t0009g0179 a0001c0001t0021g0026	3	420	0.0071	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(35): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0181 a0003c0005t0009g0182 a0003c0005t0009g0181 a0003c0005t0009g0182	2	420	0.0048	42	c.-39 others(53): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCA CACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(35): Show TACACACACACACATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02148.hp1 HG02280.hp2 others(2): Show HG01943.hp1 HG02148.hp1 HG02280.hp2 NA19062.hp1 NA20300.hp1	a0002 a0007 a0002 a0007	a0002c0001 a0007c0013 a0002c0001 a0007c0013	a0002c0001t0002 a0007c0013t0004 a0002c0001t0002 a0007c0013t0004	a0002c0001t0002g0033 a0002c0001t0002g0139 a0007c0013t0004g0118 a0002c0001t0002g0033 a0002c0001t0002g0139 a0007c0013t0004g0118	5	400	0.0125	42	c.109 others(59): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF8_chr16_85894162_85927606	85914645	C C	CGAGGATG others(35): Show CGAGGATGAGCAGGACCTGGTGTGGAAGTCTAGGCTCCGTTCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18946.hp1 NA19055.hp2 HG02165.hp1 NA18946.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0006 a0001c0001t0002 a0001c0004t0006	a0001c0001t0002g0213 a0001c0004t0006g0058 a0001c0001t0002g0213 a0001c0004t0006g0058	3	432	0.0069	42	c.601 others(57): Show c.601+125_601+126insGAGGATGAGCAGGACCTGGTGTGGAAGTCT AGGCTCCGTTCA	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	6/8			chr16	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	412	0.0024	42	c.48 others(53): Show c.4880_*4881insATATATATATATATATATATATATATATATATAT ACACACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRX6_chr16_55319203_55335756	55325531	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	448	0.0022	42	c.45+ others(55): Show c.45+396_45+397insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRX6_chr16_55319203_55335756	55325532	A A	AAGGAAGG others(35): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18951.hp2 HG01261.hp2 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0009 a0003c0003t0003 a0001c0001t0009 a0003c0003t0003	a0001c0001t0009g0092 a0003c0003t0003g0100 a0001c0001t0009g0092 a0003c0003t0003g0100	2	448	0.0045	42	c.45+ others(55): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5			chr16	TogoVar
ITGA11_chr15_68291532_68437163	68400687	T T	TATATTAT others(35): Show TATATTATATATTATATAATAAATATTATATATTATATAATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG03139.hp1 HG02615.hp1 HG02717.hp2 HG03139.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0028 a0002c0030 a0003c0066 a0001c0028 a0002c0030 a0003c0066	a0001c0028t0017 a0002c0030t0045 a0003c0066t0077 a0001c0028t0017 a0002c0030t0045 a0003c0066t0077	a0001c0028t0017g0225 a0002c0030t0045g0118 a0003c0066t0077g0019 a0001c0028t0017g0225 a0002c0030t0045g0118 a0003c0066t0077g0019	3	242	0.0124	42	c.164 others(59): Show c.164+2189_164+2230dupTTATTATATAATATATAATATTTATTAT ATAATATATAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA6_chr2_172422586_172511459	172505692	G G	GAACACAG others(35): Show GAACACAGTTTGTAGTGCCACTGTTGTTTTGGGGGGGCTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0035 a0002c0005t0035	a0002c0005t0035g0276 a0002c0005t0035g0276	1	352	0.0028	42	c.14 others(53): Show c.1441_*1482dupAACACAGTTTGTAGTGCCACTGTTGTTTTGGGGG GGCTTTTT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	26/26	1483	INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB2_chr21_44880953_44925899	44896041	G G	GTGATCCC others(35): Show GTGATCCCGCCTGCAGTGTGAGTGATCCTGCCTGCGGTGTGAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	444	0.0023	42	c.994 others(57): Show c.994-982_994-981insGTCACACCGCAGGCAGGATCACTCACACTG CAGGCGGGATCA	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	8/15			chr21	TogoVar
ITGBL1_chr13_101447675_101721446	101604885	T T	TGTATATA others(35): Show TGTATATATATATATATATATGTATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	306	0.0033	42	c.101 others(61): Show c.1015+6586_1015+6587insGTATATATATATATATATATGTATAT ATATATATACACACAC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10			chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604885	T T	TGTGTATA others(35): Show TGTGTATATATATATATATATATATGTATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	306	0.0033	42	c.101 others(61): Show c.1015+6586_1015+6587insGTGTATATATATATATATATATATGT ATATATATATACACAC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10			chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101605955	C C	CATATACA others(35): Show CATATACACATATATATGCATATATGTGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0030 a0002c0004t0002g0030	1	306	0.0033	42	c.101 others(61): Show c.1015+7674_1015+7715dupCATATATGTGTATATATATGTGTATA TATACACATATATATG	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737825	C C	CTATATTA others(35): Show CTATATTATATTCTATATATTATATATTATATTCTATATATTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	380	0.0026	42	c.195 others(59): Show c.1958-464_1958-423dupTATTATATATTATATTCTATATATTATA TATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITLN1_chr1_160871540_160890180	160873767	C C	CATATATA others(35): Show CATATATATATATATATATATATACGTATATATATACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	42	c.28 others(53): Show c.2896_*2897insATATATGTATATATATACGTATATATATATATAT ATATATAT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		2772		chr1	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	142	0.0070	42	c.163 others(61): Show c.163+14223_163+14224insATATATATATATATATATATATATAT ATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(35): Show AATATATATATATATACATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0193 a0002c0003t0001g0193	1	224	0.0045	42	c.-33 others(59): Show c.-33-9201_-33-9200insATATGTATATATATATATATATATATGT ATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
IWS1_chr2_127475812_127531489	127525088	A A	AGTAGGGG others(35): Show AGTAGGGGGGTGGGGTAGGGGCGTAGGGGGGTGGGGTAGGGGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	338	0.0030	42	c.34+ others(57): Show c.34+1086_34+1087insGCCCCTACCCCACCCCCCTACGCCCCTACC CCACCCCCCTAC	IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	1/13			chr2	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19078.hp1 NA18906.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0011 a0001c0001t0015 a0001c0002t0011	a0001c0001t0015g0209 a0001c0002t0011g0096 a0001c0001t0015g0209 a0001c0002t0011g0096	2	250	0.0080	42	c.-14 others(63): Show c.-149+40300_-149+40301insAAAAAATATATATATATATATATA TATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0236 a0001c0001t0009g0236	1	328	0.0031	42	c.67+ others(59): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15469361	C C	CTCCTCCC others(35): Show CTCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03486.hp2 NA18964.hp2 others(4): Show HG02080.hp1 HG03486.hp2 NA18964.hp2 NA19000.hp2 NA19070.hp1 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0002t0006 a0001c0004t0002	a0001c0001t0001g0051 a0001c0001t0007g0184 a0001c0001t0010g0204 others(4): Show a0001c0001t0001g0051 a0001c0001t0007g0184 a0001c0001t0010g0204 a0001c0001t0014g0264 a0001c0001t0025g0254 a0001c0002t0006g0089 a0001c0004t0002g0189	7	284	0.0247	42	c.670 others(57): Show c.670+643_670+644insTCCTCCCCTTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17			chr6	TogoVar
JARID2_chr6_15241069_15527042	15469361	C C	CTCCTCCC others(35): Show CTCCTCCCCTTCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0224 a0001c0005t0004g0224	1	284	0.0035	42	c.670 others(57): Show c.670+643_670+644insTCCTCCCCTTCTCCCCTTCTCCCCCTCTCC CCCTCTCCCCCT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17			chr6	TogoVar

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Search Results (Total: 5093 hits)