JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RGS7_chr1_240770514_241362205	241106770	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp2 NA18906.hp1 others(1): Show HG02145.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0064 a0001c0001t0002g0056 a0001c0001t0002g0109 others(1): Show a0001c0001t0001g0064 a0001c0001t0002g0056 a0001c0001t0002g0109 a0001c0001t0008g0110	4	112	0.0357	30	c.79- others(45): Show c.79-8009_79-8008insGGGGTGTGTGTGTGTGTGTGTGTGTGTGTG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241144926	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	112	0.0089	30	c.79- others(47): Show c.79-46194_79-46165dupACACACACACACACACACACACACACAC AC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGSL1_chr1_182445146_182565597	182510694	G G	GGGGGAGG others(23): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0042 a0005c0008t0001g0042	1	338	0.0030	30	c.182 others(51): Show c.1826-11308_1826-11307insGGAGGGGGAGGGGGAGGGGGAGGG GGAAGG	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHD_chr1_25267509_25335445	25312920	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	214	0.0047	30	c.107 others(49): Show c.1074-4074_1074-4045dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOA_chr3_49354145_49416976	49404431	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG01981.hp2 others(7): Show HG00735.hp2 HG01123.hp1 HG01981.hp2 HG02523.hp1 HG02602.hp1 HG04228.hp1 NA18991.hp1 NA19012.hp1 NA19065.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0158 others(7): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0004g0157	10	264	0.0379	30	c.-3+ others(45): Show c.-3+7388_-3+7389insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49404433	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02922.hp1 others(3): Show HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0002g0093 others(3): Show a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100	6	264	0.0227	30	c.-3+ others(45): Show c.-3+7386_-3+7387insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49408205	C C	CACACGTA others(23): Show CACACGTATATGTACACATATATATACGTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02683.hp1 others(3): Show HG02451.hp2 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009	6	264	0.0227	30	c.-3+ others(45): Show c.-3+3585_-3+3614dupATACGTATATATATGTGTACATATACGTGT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOBTB2_chr8_22994548_23025199	23001363	T T	TATCAGCA others(23): Show TATCAGCAATGAGTGGGCTGTATCACCATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp1 NA19240.hp1 HG02257.hp2 HG02886.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0014 a0001c0004t0003 a0001c0004t0014	a0001c0004t0003g0042 a0001c0004t0014g0027 a0001c0004t0003g0042 a0001c0004t0014g0027	3	358	0.0084	30	c.-11 others(47): Show c.-11+1270_-11+1299dupGTGGGCTGTATCACCATACATCAGCAAT GA	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATATTTTT others(23): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	368	0.0027	30	c.-48 others(41): Show c.-4898_-4897insTATTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01943.hp1 others(8): Show HG01081.hp1 HG01081.hp2 HG01943.hp1 HG02071.hp2 HG02129.hp2 HG02293.hp1 HG03540.hp1 HG04199.hp2 NA18950.hp1 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0000 a0001c0001t0015g0000 a0001c0001t0001g0000 a0001c0001t0015g0000	11	368	0.0299	30	c.-48 others(41): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOC_chr1_112696131_112712127	112706476	A A	ACACCACA others(23): Show ACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	428	0.0023	30	c.-77 others(45): Show c.-77+601_-77+602insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706478	A A	ACACCACA others(23): Show ACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 NA18942.hp1 others(1): Show HG02258.hp2 HG03130.hp1 NA18942.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0149 a0001c0001t0001g0032 a0001c0001t0001g0149	4	428	0.0094	30	c.-77 others(45): Show c.-77+599_-77+600insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOF_chr12_121772754_121798688	121773767	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0055 a0001c0005t0055	a0001c0005t0055g0255 a0001c0005t0055g0255	1	386	0.0026	30	c.57 others(41): Show c.5730_*5731insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding		3986		chr12	TogoVar
RHOG_chr11_3821978_3845959	3839602	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0243	1	468	0.0021	30	c.-69 others(47): Show c.-69+1291_-69+1292insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RHOG	ENSG00000177105.10	transcript	ENST00000351018.5	protein_coding	1/1			chr11	TogoVar
RHOQ_chr2_46537490_46589688	46546451	C C	CATATATA others(23): Show CATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp2 HG00639.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0320 a0001c0001t0002g0297 a0001c0001t0002g0320	2	332	0.0060	30	c.201 others(47): Show c.201+2659_201+2660insGTATATATATATATATATATATATATAT AT	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOT1_chr17_32137502_32230727	32149635	A A	ATATATAT others(23): Show ATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	284	0.0035	30	c.37+ others(45): Show c.37+6907_37+6908insATATATATATATATGTGTGTGTGTGTGTGT	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
RHPN2_chr19_32973592_33069888	33031210	T T	TTTCTATT others(23): Show TTTCTATTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03098.hp2 HG01978.hp1 HG03098.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0001 a0001c0001t0001 a0005c0011t0001	a0001c0001t0001g0034 a0005c0011t0001g0168 a0001c0001t0001g0034 a0005c0011t0001g0168	2	326	0.0061	30	c.186 others(47): Show c.186-4608_186-4579dupTAGAATAGAATAGAATAGAATAGAATAG AA	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	2/14			chr19	TogoVar
RIC1_chr9_5624107_5781557	5673535	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp2 others(7): Show HG00099.hp2 HG01516.hp2 HG01517.hp2 HG02809.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG06807.hp2 NA18961.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0024 a0001c0006t0010 a0001c0001t0001 a0001c0001t0024 a0001c0006t0010	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 others(7): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0172 a0001c0001t0024g0044 a0001c0006t0010g0031	10	328	0.0305	30	c.253 others(49): Show c.253-16401_253-16400insTATATATATATATATATATATATATA TATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIC3_chr11_8101056_8174025	8122455	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01943.hp2 HG01257.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0028 a0001c0001t0008g0025 a0001c0001t0008g0028	2	370	0.0054	30	c.670 others(47): Show c.670+4203_670+4204insTATATATATATATATATATATATATATA TA	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	5/5			chr11	TogoVar
RIC8B_chr12_106769682_106894316	106785785	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01516.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG01516.hp2 HG02896.hp2 HG03942.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0003g0008 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0005g0031	6	318	0.0189	30	c.132 others(47): Show c.132+1770_132+1771insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RICTOR_chr5_38932920_39079399	39006695	A A	AGGGAGAG others(23): Show AGGGAGAGGAGGGGAGAGGAGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp1 others(32): Show HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01346.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp2 NA18944.hp2 NA18949.hp1 NA18957.hp2 NA18967.hp1 NA18971.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19030.hp1 NA19079.hp2 NA19091.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0007t0002 a0002c0003t0005 a0002c0003t0029 a0011c0008t0005	a0001c0001t0001g0060 a0001c0001t0001g0164 a0001c0001t0002g0026 others(32): Show a0001c0001t0001g0060 a0001c0001t0001g0164 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0174 a0001c0001t0010g0059 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0015g0038 a0001c0001t0015g0039 a0001c0001t0015g0040 a0001c0007t0002g0034 a0001c0007t0002g0035 a0002c0003t0005g0200 a0002c0003t0005g0203 a0002c0003t0005g0204 a0002c0003t0005g0206 a0002c0003t0005g0208 a0002c0003t0005g0210 a0002c0003t0005g0213 a0002c0003t0005g0216 a0002c0003t0005g0217 a0002c0003t0029g0215 a0011c0008t0005g0202	35	338	0.1036	30	c.196 others(47): Show c.196-3103_196-3074dupCTCCTCTCCCCTCCTCTCCCCTCCTCTC CC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	3/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18963.hp2 NA18977.hp1 HG02080.hp2 NA18963.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0014g0153 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0014g0153	3	338	0.0089	30	c.-90 others(39): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIDA_chr8_98097344_98122171	98109309	T T	TTAAAAGT others(23): Show TTAAAAGTCAATAATGTGAAGACAAACCCAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04204.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	2	458	0.0044	30	c.66- others(43): Show c.66-588_66-559dupTTGGGTTTGTCTTCACATTATTGACTTTTA	RIDA	ENSG00000132541.11	transcript	ENST00000254878.8	protein_coding	1/5			chr8	TogoVar
RIGI_chr9_32450302_32531196	32504038	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0332 a0002c0004t0008g0332	1	344	0.0029	30	c.107 others(47): Show c.107-3129_107-3100dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RILPL1_chr12_123465054_123538719	123536912	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03831.hp2 HG03490.hp2 HG03492.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0016 a0001c0004t0030 a0001c0004t0005 a0001c0004t0016 a0001c0004t0030	a0001c0004t0005g0192 a0001c0004t0016g0204 a0001c0004t0030g0193 a0001c0004t0005g0192 a0001c0004t0016g0204 a0001c0004t0030g0193	3	210	0.0143	30	c.-34 others(41): Show c.-3431_-3430insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3194		chr12	TogoVar
RILPL1_chr12_123465054_123538719	123537008	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCCCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0170 a0002c0003t0006g0170	1	210	0.0048	30	c.-35 others(41): Show c.-3527_-3526insAGAGAGAGAGAGAGAGAGGGAGGGAGGGAG	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3290		chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21381775	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG03834.hp1 HG01261.hp1 HG03834.hp1	a0005 a0050 a0005 a0050	a0005c0006 a0050c0028 a0005c0006 a0050c0028	a0005c0006t0003 a0050c0028t0006 a0005c0006t0003 a0050c0028t0006	a0005c0006t0003g0000 a0050c0028t0006g0000 a0005c0006t0003g0000 a0050c0028t0006g0000	2	118	0.0170	30	c.-20 others(41): Show c.-2084_-2083insAAAATAAAATAAAATAAAATAAAATAAAAT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		1975		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21382945	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA20129.hp2 HG02630.hp1 NA20129.hp2	a0023 a0072 a0023 a0072	a0023c0065 a0072c0017 a0023c0065 a0072c0017	a0023c0065t0001 a0072c0017t0002 a0023c0065t0001 a0072c0017t0002	a0023c0065t0001g0000 a0072c0017t0002g0000 a0023c0065t0001g0000 a0072c0017t0002g0000	2	118	0.0170	30	c.-91 others(39): Show c.-914_-913insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		805		chr22	TogoVar
RIMKLA_chr1_42375792_42429232	42384503	G G	GTATATAT others(23): Show GTATATATGTATATATGTGTGTATATATACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0173 a0001c0001t0030g0174 a0001c0001t0030g0173 a0001c0001t0030g0174	2	356	0.0056	30	c.163 others(47): Show c.163+3422_163+3451dupGTGTGTATATATACATATATATGTATAT AT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385844	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0035 a0001c0001t0037g0035	1	356	0.0028	30	c.163 others(47): Show c.163+4750_163+4751insCTCTCTCTCTCTCTCTCTTTCTTTCTTT CT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385844	C C	CTCTCTCT others(23): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0064 a0001c0001t0012g0064	1	356	0.0028	30	c.163 others(47): Show c.163+4750_163+4751insCTCTCTTTCTTTCTTTCTTTCTTTCTTT CT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLB_chr12_8692991_8782191	8704971	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp2 HG02965.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0284 a0001c0002t0013g0285 a0001c0002t0013g0284 a0001c0002t0013g0285	2	294	0.0068	30	c.-57 others(47): Show c.-57+6703_-57+6704insCACACACACACACACACACACACACACA CA	RIMKLB	ENSG00000166532.16	transcript	ENST00000535829.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	318	0.0031	30	c.-31 others(41): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72093210	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01981.hp2 HG02165.hp1 others(5): Show HG01358.hp1 HG01981.hp2 HG02165.hp1 HG02293.hp2 HG04204.hp1 HG06807.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0117 a0001c0002t0001g0122 a0001c0002t0002g0036 a0001c0002t0005g0064	8	140	0.0571	30	c.246 others(47): Show c.246-3721_246-3720insTATATATATATATATATATATATATATA TA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS3_chr1_40615680_40670682	40670574	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0210 a0001c0001t0015g0210	1	376	0.0027	30	c.-53 others(41): Show c.-5388_-5387insTATATATATATATATATATATATATATATA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		4893		chr1	TogoVar
RIN2_chr20_19753258_20007456	19833283	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0176 a0001c0002t0017g0176	1	276	0.0036	30	c.-37 others(49): Show c.-37+33549_-37+33550insATATATATATATATATATATATATAT ATAT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp1 NA18966.hp2 others(2): Show HG01192.hp2 HG01934.hp1 NA18966.hp2 NA18970.hp2 NA18977.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006 a0007c0007	a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0005c0006t0001 a0007c0007t0001	a0001c0001t0003g0066 a0002c0002t0001g0101 a0003c0003t0001g0059 others(2): Show a0001c0001t0003g0066 a0002c0002t0001g0101 a0003c0003t0001g0059 a0005c0006t0001g0075 a0007c0007t0001g0237	5	334	0.0150	30	c.249 others(47): Show c.249+5088_249+5089insTATATATATATATATATATATATATATA TA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG04199.hp2 HG01346.hp1 HG04199.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0007c0007t0001 a0003c0003t0001 a0007c0007t0001	a0003c0003t0001g0178 a0007c0007t0001g0083 a0003c0003t0001g0178 a0007c0007t0001g0083	2	334	0.0060	30	c.249 others(47): Show c.249+5090_249+5091insAAAATATATATATATATATATATATATA TA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0247 a0004c0004t0002g0247	1	334	0.0030	30	c.249 others(47): Show c.249+5090_249+5091insAATATATATATATATATATATATATATA TA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	368	0.0027	30	c.29 others(41): Show c.2929_*2930insAAAAATATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK3_chr18_23448287_23488140	23451472	C C	CAAAAGAA others(23): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01496.hp2 HG01934.hp2 others(12): Show HG00438.hp1 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02132.hp2 HG02523.hp1 HG02683.hp2 HG02818.hp2 NA18941.hp2 NA18959.hp1 NA18983.hp1 NA19000.hp1 NA19067.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 others(12): Show a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0198 a0001c0001t0004g0184 a0001c0001t0005g0090 a0001c0001t0008g0254	15	402	0.0373	30	c.-19 others(41): Show c.-1968_-1967insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		1814		chr18	TogoVar
RIOK3_chr18_23448287_23488140	23469304	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	402	0.0025	30	c.815 others(47): Show c.815+1782_815+1811dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0263 a0003c0003t0001g0263	1	370	0.0027	30	c.115 others(47): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(23): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02056.hp2 HG02922.hp1 others(1): Show HG02055.hp1 HG02056.hp2 HG02922.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0030 a0001c0002 a0001c0017 a0001c0030	a0001c0002t0002 a0001c0017t0002 a0001c0030t0027 a0001c0002t0002 a0001c0017t0002 a0001c0030t0027	a0001c0002t0002g0063 a0001c0002t0002g0126 a0001c0017t0002g0333 others(1): Show a0001c0002t0002g0063 a0001c0002t0002g0126 a0001c0017t0002g0333 a0001c0030t0027g0085	4	448	0.0089	30	c.48 others(41): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0002 a0004c0016t0002	a0004c0016t0002g0048 a0004c0016t0002g0048	1	448	0.0022	30	c.47 others(41): Show c.4781_*4782insTAATAATAATAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA19082.hp1 HG03579.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0184 a0001c0003t0001g0210 a0001c0002t0002g0184 a0001c0003t0001g0210	2	448	0.0045	30	c.47 others(41): Show c.4781_*4782insTAATAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	448	0.0022	30	c.47 others(41): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR2_chr6_24799284_24940960	24926965	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACAACTACAAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0052 a0001c0003t0031g0052	1	328	0.0031	30	c.61+ others(45): Show c.61+8872_61+8873insATTGTAGTTGTGGTGGTGGTGGTGGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927179	C C	CCACCACT others(23): Show CCACCACTACAACTACAGTTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0206 a0001c0003t0002g0206	1	328	0.0031	30	c.61+ others(45): Show c.61+8658_61+8659insATGGTGGTGGTAACTGTAGTTGTAGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927287	C C	CCACCACT others(23): Show CCACCACTACAGCTACAATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0277 a0001c0001t0004g0277	1	328	0.0031	30	c.61+ others(45): Show c.61+8550_61+8551insATGGTGGTGGTGATTGTAGCTGTAGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar

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Search Results (Total: 10000 hits)