Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
HSF1_chr8_144286604_144319720	144313683	C C	CTCCCCGC others(22): Show CTCCCCGCGCCGCCTCCCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	330	0.0030	29	c.124 others(44): Show c.1248+67_1248+68insTCCCCGCGCCGCCTCCCCGCCTCCCCGCG	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12			chr8	TogoVar
HSF1_chr8_144286604_144319720	144313736	G G	GCGCCGCG others(22): Show GCGCCGCGCCGCCTCCCCGCCTCCCCGCGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	330	0.0030	29	c.124 others(46): Show c.1249-106_1249-105insGCGCCGCCTCCCCGCCTCCCCGCGCCGC C	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313754	G G	GCGCCGCC others(22): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0268 a0001c0001t0008g0268	1	330	0.0030	29	c.124 others(44): Show c.1249-91_1249-90insGCCGCCTCCCCGCGCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116696002	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	320	0.0031	29	c.546 others(46): Show c.546+2632_546+2633insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11			chr10	TogoVar
HSPA4L_chr4_127777322_127845733	127837973	T T	TTTTGTAT others(22): Show TTTTGTATTTTTAGTAGATGGGGTTTCATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0032 a0001c0001t0044g0032	1	340	0.0029	29	c.51 others(40): Show c.5100_*5128dupTTTGTATTTTTAGTAGATGGGGTTTCATC	HSPA4L	ENSG00000164070.12	transcript	ENST00000296464.9	protein_coding	19/19	5129	INFO_REALIGN_3_PRIME	chr4	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA21309.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0066 a0001c0001t0003 a0001c0001t0066	a0001c0001t0003g0131 a0001c0001t0066g0147 a0001c0001t0003g0131 a0001c0001t0066g0147	2	364	0.0055	29	c.909 others(46): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPA5_chr9_125229853_125246343	125234587	A A	ATATATGT others(22): Show ATATATGTATACATATATAGTATACATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp1 others(48): Show HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18522.hp2 NA18747.hp2 NA18945.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp2 NA18977.hp2 NA18981.hp1 NA18987.hp1 NA18994.hp1 NA18999.hp1 NA19043.hp2 NA19057.hp1 NA19072.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019	a0001c0001t0002g0044 a0001c0001t0004g0004 a0001c0001t0004g0016 others(10): Show a0001c0001t0002g0044 a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0045 a0001c0001t0007g0009 a0001c0001t0007g0043 a0001c0001t0009g0017 a0001c0001t0012g0031 a0001c0001t0017g0032 a0001c0001t0019g0035	51	404	0.1262	29	c.20 others(40): Show c.2004_*2005insAATATGTATACTATATATGTATACATATA	HSPA5	ENSG00000044574.9	transcript	ENST00000324460.7	protein_coding		265		chr9	TogoVar
HSPG2_chr1_21817244_21942310	21819473	C C	CTTTATAA others(22): Show CTTTATAAATTACCTTTATAAATTTATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0039 a0039	a0039c0041 a0039c0041	a0039c0041t0002 a0039c0041t0002	a0039c0041t0002g0175 a0039c0041t0002g0175	1	310	0.0032	29	c.38 others(40): Show c.3814_*3842dupTTTATAAATTTATAAAGGTAATTTATAAA	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding		2770		chr1	TogoVar
HSPG2_chr1_21817244_21942310	21937579	C C	CACCCGGA others(22): Show CACCCGGAGCCCCAGGGGGGTAGGGACGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0001 a0022c0034t0001	a0022c0034t0001g0219 a0022c0034t0001g0219	1	310	0.0032	29	c.-36 others(38): Show c.-363_-362insCTCGTCCCTACCCCCCTGGGGCTCCGGGT	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding		270		chr1	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00673.hp1 others(19): Show HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp1 HG02015.hp1 HG02129.hp1 HG02132.hp1 HG02559.hp1 HG02602.hp1 HG02735.hp1 HG02886.hp2 NA18944.hp1 NA18945.hp1 NA18983.hp1 NA18995.hp1 NA19055.hp1 NA19062.hp1 NA19068.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0071 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0002g0028 a0001c0001t0003g0073	22	176	0.1250	29	c.349 others(46): Show c.349+9942_349+9943insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HUS1B_chr6_650939_662100	658629	A A	AATATATA others(22): Show AATATATATATATATTTTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	432	0.0023	29	c.-17 others(40): Show c.-1714_-1686dupATATATATATATAAAATATATATATATAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1530		chr6	TogoVar
HUS1B_chr6_650939_662100	658645	T T	TTATATAT others(22): Show TTATATATATATATATATATATATATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	432	0.0023	29	c.-17 others(40): Show c.-1702_-1701insTAAAATATATATATATATATATATATATA	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1546		chr6	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0017 a0002c0010t0017	a0002c0010t0017g0149 a0002c0010t0017g0149	1	174	0.0058	29	c.884 others(46): Show c.8849+803_8849+804insAAAAAAAAAAAAAAATATATATATATAT A	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IDE_chr10_92446684_92579093	92510660	A A	ACATACAT others(22): Show ACATACATCTCACATATATGATATATATCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	314	0.0032	29	c.785 others(44): Show c.785-499_785-498insCGATATATATCATATATGTGAGATGTATG	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	5/24			chr10	TogoVar
IDE_chr10_92446684_92579093	92510704	A A	ATATGATA others(22): Show ATATGATATATATCACATACATCTCACATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0115 a0001c0004t0001g0115	1	314	0.0032	29	c.785 others(44): Show c.785-571_785-543dupCATGTGAGATGTATGTGATATATATCATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	5/24			chr10	TogoVar
IDH2_chr15_90078045_90107468	90087806	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTGGAAAACACCGCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0107 a0001c0002t0004g0107	1	440	0.0023	29	c.679 others(44): Show c.679-232_679-231insAAGGCGGTGTTTTCCAAAAAAAAAAAAAA	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding	5/10			chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03017.hp1 HG02451.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0112 a0001c0002t0005g0099 a0001c0002t0002g0112 a0001c0002t0005g0099	2	386	0.0052	29	c.174 others(44): Show c.174+833_174+834insATATATATATATATATATATATATATATT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0117 a0001c0002t0020g0117	1	386	0.0026	29	c.174 others(44): Show c.174+833_174+834insATATATATATATATATATATATATATTTT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158464	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0096 a0001c0002t0005g0096	1	386	0.0026	29	c.174 others(44): Show c.174+833_174+834insATATATATATATATATATATATATATATA	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10			chr15	TogoVar
IFFO2_chr1_18899280_18961676	18925915	A A	ATGGATGG others(22): Show ATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0093 a0001c0001t0040g0093	1	376	0.0027	29	c.666 others(46): Show c.666-4795_666-4794insACCAATCCATCCATCCATCCATCCATCC A	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG02148.hp2 HG02273.hp1 others(3): Show HG01258.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02809.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	6	433	0.0139	29	c.28 others(40): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar
IFNG_chr12_68149768_68164740	68161586	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	422	0.0024	29	c.-19 others(40): Show c.-1972_-1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IFNG	ENSG00000111537.5	transcript	ENST00000229135.4	protein_coding		1847		chr12	TogoVar
IFT52_chr20_43585937_43652299	43600588	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAATAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	300	0.0033	29	c.208 others(46): Show c.208-3171_208-3170insAAAAAAAAAAAAAAAATAAAAAAAAAAA A	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT52_chr20_43585937_43652299	43622765	A A	ATATTTTT others(22): Show ATATTTTTATGTAAATATAAATATATACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG02055.hp1 others(8): Show HG00099.hp1 HG01106.hp1 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0132 others(8): Show a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0177 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263	11	300	0.0367	29	c.769 others(46): Show c.769-1126_769-1125insTATTTTTATGTAAATATAAATATATACA T	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	9/13			chr20	TogoVar
IFT57_chr3_108155812_108227424	108205957	A A	AAATATAT others(22): Show AAATATATTATATATTTATATATAATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	354	0.0028	29	c.654 others(44): Show c.654+642_654+670dupATATATTATATATAAATATATAATATATT	IFT57	ENSG00000114446.5	transcript	ENST00000264538.4	protein_coding	5/10			chr3	TogoVar
IFT81_chr12_110119357_110223793	110139866	T T	TAAATAAA others(22): Show TAAATAAAATAAAATAAAATATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG03486.hp2 others(1): Show HG02109.hp2 HG02818.hp1 HG03486.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0049 a0002c0002t0001g0050 others(1): Show a0002c0002t0001g0012 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051	4	218	0.0184	29	c.781 others(46): Show c.781+3007_781+3008insAATAAAATAAAATAAAATATAAAATAAA A	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IGBP1_chrX_70128447_70171324	70154714	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 NA19240.hp1 HG02976.hp2 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0162 a0001c0006t0001g0023 a0001c0001t0001g0023 a0001c0001t0001g0162 a0001c0006t0001g0023	3	245	0.0122	29	c.871 others(46): Show c.871+4414_871+4415insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	IGBP1	ENSG00000089289.16	transcript	ENST00000356413.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
IGF1R_chr15_98643539_98969530	98674977	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0197 a0001c0001t0090g0197	1	210	0.0048	29	c.94+ others(46): Show c.94+25326_94+25327insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102441956	T T	TTCTTCTT others(22): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0322 a0001c0001t0004g0322	1	360	0.0028	29	c.221 others(48): Show c.221-22267_221-22266insGAAGAAGAAGAAGAAGAAGAAGAAGA AGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP3_chr7_23305209_23475491	23445497	A A	ATTACTTA others(22): Show ATTACTTAGTATGACTAAGTAAAACTACTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18960.hp2 HG03710.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0091 a0001c0002t0003g0092 a0001c0001t0001g0091 a0001c0002t0003g0092	2	230	0.0087	29	c.236 others(48): Show c.236+22956_236+22984dupAAGTAGTTTTACTTAGTCATACTAAG TAA	IGF2BP3	ENSG00000136231.14	transcript	ENST00000258729.8	protein_coding	2/14			chr7	TogoVar
IGFBP3_chr7_45907245_45926272	45923108	A A	AATACTCG others(22): Show AATACTCGCAGAGACCTTGACTCTGAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	29	c.-19 others(40): Show c.-1969_-1968insAATTTCAGAGTCAAGGTCTCTGCGAGTAT	IGFBP3	ENSG00000146674.16	transcript	ENST00000613132.5	protein_coding		1837		chr7	TogoVar
IGFL4_chr19_46034182_46046002	46034736	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp2 NA18952.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	454	0.0044	29	c.51 others(40): Show c.5155_*5156insATATATATATATATATATATATATATATA	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4445		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034764	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	29	c.51 others(40): Show c.5127_*5128insTATATATATATATATATATATATATATAT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4417		chr19	TogoVar
IGLON5_chr19_51306644_51335891	51315688	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02257.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0312 a0001c0001t0004g0314	2	418	0.0048	29	c.79+ others(44): Show c.79+3787_79+3788insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IHO1_chr3_49194498_49263106	49200475	A A	AAAGAAAA others(22): Show AAAGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02809.hp1 HG01169.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	196	0.0102	29	c.-16 others(44): Show c.-16+904_-16+905insGAAAAAGAAAGAAAGAAAGAAAGAAAGAA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49200475	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	196	0.0051	29	c.-16 others(44): Show c.-16+902_-16+903insGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7			chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02615.hp2 HG00544.hp2 HG02615.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0148 a0003c0007t0001g0167 a0001c0001t0001g0148 a0003c0007t0001g0167	2	196	0.0102	29	c.56+ others(44): Show c.56+2797_56+2798insATATATATATATATATATATATTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20300.hp2 HG00642.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0163 a0001c0001t0001g0132 a0001c0001t0001g0163	2	196	0.0102	29	c.56+ others(44): Show c.56+2797_56+2798insATATATATATATATATATATTTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03130.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0176	3	196	0.0153	29	c.56+ others(44): Show c.56+2797_56+2798insATATATATATATATATATTTTTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20752.hp1 HG02109.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0002 a0001c0001t0001 a0004c0006t0002	a0001c0001t0001g0134 a0004c0006t0002g0029 a0001c0001t0001g0134 a0004c0006t0002g0029	2	196	0.0102	29	c.56+ others(44): Show c.56+2797_56+2798insATATATATATATATATTTTTTTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp2 HG01109.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0146 a0001c0001t0001g0125 a0001c0001t0001g0146	2	196	0.0102	29	c.56+ others(44): Show c.56+2797_56+2798insATATATATATATATTTTTTTTTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IKZF3_chr17_39752718_39869312	39850052	T T	TATATTAT others(22): Show TATATTATATATGTATATATACTATATAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0235 a0001c0004t0022g0235	1	256	0.0039	29	c.7+1 others(44): Show c.7+14067_7+14068insGCTATATAGTATATATACATATATAATAT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IKZF3_chr17_39752718_39869312	39850117	C C	CTATATGT others(22): Show CTATATGTATATATACTATATAGCATATTA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	256	0.0039	29	c.7+1 others(44): Show c.7+13974_7+14002dupTAATATGCTATATAGTATATATACATATA	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IKZF3_chr17_39752718_39869312	39850643	A A	ACTATATA others(22): Show ACTATATATTATATATACATATATAATATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp1 NA20300.hp2 HG03225.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0043 a0001c0001t0057 a0001c0001t0014 a0001c0001t0043 a0001c0001t0057	a0001c0001t0014g0119 a0001c0001t0043g0120 a0001c0001t0057g0118 a0001c0001t0014g0119 a0001c0001t0043g0120 a0001c0001t0057g0118	3	256	0.0117	29	c.7+1 others(44): Show c.7+13476_7+13477insCATATTATATATGTATATATAATATATAG	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IKZF3_chr17_39752718_39869312	39850770	A A	ATATATAG others(22): Show ATATATAGTATATATACATATCTAATATGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0220 a0001c0001t0053g0220	1	256	0.0039	29	c.7+1 others(44): Show c.7+13321_7+13349dupGCATATTAGATATGTATATATACTATATA	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IL13RA1_chrX_118722606_118799533	118795227	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02922.hp2 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0140 a0001c0001t0001g0005 a0001c0001t0001g0140	2	280	0.0071	29	c.33 others(40): Show c.3373_*3374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding		695		chrX	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0040 a0007c0011t0040	a0007c0011t0040g0175 a0007c0011t0040g0175	1	342	0.0029	29	c.313 others(48): Show c.313-16608_313-16607insATATATATATATATATATATATATAT ATT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	342	0.0029	29	c.313 others(48): Show c.313-16608_313-16607insATATATATATATATATATATATATAT TTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0033 a0001c0005t0009g0033	1	342	0.0029	29	c.313 others(48): Show c.313-16608_313-16607insATATATATATATATATATATATTTTT TTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17REL_chr22_49986811_50017765	50016485	C C	CCCACGTG others(22): Show CCCACGTGGTGCCCGTGGTCTGGCAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03486.hp2 HG02145.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0283 a0001c0001t0010g0064 a0001c0001t0004g0283 a0001c0001t0010g0064	2	440	0.0046	29	c.-38 others(40): Show c.-3840_-3839insCCGCCTGCCAGACCACGGGCACCACGTGG	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding		3721		chr22	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)