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
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	154	0.0065	36	c.-66 others(45): Show c.-664_-663insCGAGAGCGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0136 a0001c0001t0028g0136	1	154	0.0065	36	c.-66 others(45): Show c.-669_-668insAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611183	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA19085.hp1 HG02809.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0133 a0001c0001t0005g0147 a0001c0001t0004g0133 a0001c0001t0005g0147	2	154	0.0130	36	c.-67 others(45): Show c.-678_-677insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		133		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	354	0.0028	36	c.303 others(55): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(29): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp1 HG03041.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0140 a0001c0003t0004g0170 a0001c0003t0003g0140 a0001c0003t0004g0170	2	276	0.0073	36	c.118 others(55): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM11_chr21_14211157_14233372	14213002	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0027 a0001c0005t0005g0027	1	458	0.0022	36	c.-31 others(47): Show c.-3185_-3184insATATATATATATATATATATATATATATATATAT AT	RBM11	ENSG00000185272.14	transcript	ENST00000400577.4	protein_coding		3154		chr21	TogoVar
RBM17_chr10_6084034_6122447	6085763	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG04184.hp1 HG02735.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0118 a0001c0001t0002g0121	2	434	0.0046	36	c.-34 others(47): Show c.-3449_-3448insGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGA AG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3270		chr10	TogoVar
RBM17_chr10_6084034_6122447	6085823	A A	AGAAGGAA others(29): Show AGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0197 a0001c0001t0002g0198	2	434	0.0046	36	c.-33 others(47): Show c.-3389_-3388insGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGA AG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3210		chr10	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18941.hp2 NA19079.hp2 HG02165.hp2 NA18941.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0112 a0001c0001t0002g0295 a0003c0002t0002g0046 a0001c0001t0002g0112 a0001c0001t0002g0295 a0003c0002t0002g0046	3	356	0.0084	36	c.255 others(57): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113879448	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	356	0.0028	36	c.255 others(57): Show c.2559-20553_2559-20552insGTGTATATATATATATATATATAT ATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03834.hp2 HG02083.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0002 a0001c0001t0001g0081	2	442	0.0045	36	c.29 others(47): Show c.2902_*2903insTATATATATATATATATATATATATATATATATA TA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM26_chr13_79313868_79411255	79392113	A A	AATTATAT others(29): Show AATTATATAATTATATATTATACAATAATACATAATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	328	0.0031	36	c.72- others(53): Show c.72-13242_72-13207dupAATTATGTATTATTGTATAATATATAAT TATATAAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM26_chr13_79313868_79411255	79392113	A A	AATTATAT others(29): Show AATTATATAATTATATGTTATACAATAATACATAATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0179 a0001c0002t0012g0179	1	328	0.0031	36	c.72- others(53): Show c.72-13207_72-13206insAATTATGTATTATTGTATAACATATAAT TATATAAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM33_chr7_155639661_155786480	155673678	G G	GTATATAT others(29): Show GTATATATACACACACATATATACATACACACGTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG03540.hp2 HG02572.hp1 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0087 a0001c0006t0093 a0001c0006t0094 a0001c0006t0087 a0001c0006t0093 a0001c0006t0094	a0001c0006t0087g0165 a0001c0006t0093g0166 a0001c0006t0094g0164 a0001c0006t0087g0165 a0001c0006t0093g0166 a0001c0006t0094g0164	3	306	0.0098	36	c.171 others(51): Show c.171+771_171+772insCACACACATATATACATACACACGTGTATA TATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM38_chr20_57386396_57414333	57392012	G G	GCCCCCAC others(29): Show GCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	400	0.0025	36	c.237 others(51): Show c.237+229_237+230insACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCC	RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp2 HG02129.hp1 HG01099.hp2 HG01433.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0029 a0001c0001t0051 a0001c0003t0007 a0001c0001t0029 a0001c0001t0051 a0001c0003t0007	a0001c0001t0029g0252 a0001c0001t0051g0259 a0001c0003t0007g0182 a0001c0001t0029g0252 a0001c0001t0051g0259 a0001c0003t0007g0182	3	278	0.0108	36	c.-15 others(57): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02602.hp2 HG02622.hp2 others(10): Show HG02040.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02922.hp1 HG03540.hp1 NA18944.hp2 NA18955.hp2 NA18971.hp1 NA18973.hp1 NA19070.hp1 NA19074.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0002c0002 a0002c0005 a0002c0009 a0002c0015	a0001c0001t0002 a0001c0001t0028 a0001c0001t0055 others(10): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0055 a0001c0003t0041 a0001c0004t0011 a0001c0004t0080 a0001c0011t0003 a0002c0002t0013 a0002c0002t0063 a0002c0002t0143 a0002c0005t0013 a0002c0009t0008 a0002c0015t0008	a0001c0001t0002g0057 a0001c0001t0028g0265 a0001c0001t0055g0163 others(10): Show a0001c0001t0002g0057 a0001c0001t0028g0265 a0001c0001t0055g0163 a0001c0003t0041g0207 a0001c0004t0011g0033 a0001c0004t0080g0137 a0001c0011t0003g0126 a0002c0002t0013g0059 a0002c0002t0063g0010 a0002c0002t0143g0278 a0002c0005t0013g0149 a0002c0009t0008g0079 a0002c0015t0008g0081	13	278	0.0468	36	c.-23 others(57): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160311228	C C	CTATATAT others(29): Show CTATATATCTATATATCTATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	328	0.0031	36	c.402 others(53): Show c.402+1927_402+1928insTATATATATATAGATATATAGATATATA GATATATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(29): Show GTGTGTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01081.hp1 others(4): Show HG00280.hp1 HG01074.hp1 HG01081.hp1 HG01516.hp2 HG01517.hp1 HG02602.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0001t0004 a0001c0001t0017 a0001c0001t0023	a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0180 others(4): Show a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0017g0285 a0001c0001t0017g0286 a0001c0001t0023g0086	7	328	0.0213	36	c.75+ others(53): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA CATACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0056 a0001c0001t0019g0056	1	116	0.0086	36	c.637 others(55): Show c.637+16736_637+16737insTATATATATATATATATATATATATA TATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0111 a0001c0001t0079g0111	1	116	0.0086	36	c.940 others(53): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG02622.hp1 HG01071.hp2 HG01106.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0027g0090 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0027g0090	3	116	0.0259	36	c.109 others(57): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	446	0.0022	36	c.-11 others(47): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GAGATATA others(29): Show GAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	304	0.0033	36	c.67- others(53): Show c.67-29129_67-29128insGATATATATATATATATATATATATATA TATATATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	304	0.0033	36	c.67- others(53): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT ATATATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01346.hp1 others(5): Show HG00735.hp2 HG01175.hp1 HG01346.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0082 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0129 a0001c0001t0004g0107 a0001c0001t0005g0095 a0001c0001t0005g0102 a0001c0001t0022g0158	8	158	0.0506	36	c.225 others(55): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	270	0.0037	36	c.324 others(53): Show c.324+1258_324+1259insATATATATATATATATATATATATATAT ATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	390	0.0026	36	c.286 others(53): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487824	A A	ATATATAT others(29): Show ATATATATTCATATATATATTCATAATATATATATTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	406	0.0025	36	c.657 others(53): Show c.657+2756_657+2757insGAATATATATATTATGAATATATATATG AATATATA	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(29): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01928.hp2 HG01255.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0033 a0001c0001t0019 a0001c0001t0033	a0001c0001t0019g0099 a0001c0001t0033g0180 a0001c0001t0019g0099 a0001c0001t0033g0180	2	350	0.0057	36	c.121 others(55): Show c.1219-3380_1219-3345dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCVRN_chr17_9891320_9910271	9900470	T T	TCTTCCTT others(29): Show TCTTCCTTTCTTTCCTAACCTTCCTTTCTTTCCTAAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp1 others(41): Show HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0039 a0001c0001t0047	a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0001t0002g0167 others(17): Show a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0001t0002g0167 a0001c0001t0003g0075 a0001c0001t0008g0013 a0001c0001t0012g0028 a0001c0001t0012g0051 a0001c0001t0013g0021 a0001c0001t0015g0039 a0001c0001t0015g0133 a0001c0001t0016g0059 a0001c0001t0016g0082 a0001c0001t0016g0132 a0001c0001t0017g0040 a0001c0001t0021g0046 a0001c0001t0024g0155 a0001c0001t0024g0176 a0001c0001t0031g0134 a0001c0001t0039g0079 a0001c0001t0047g0145	44	480	0.0917	36	c.493 others(51): Show c.493+483_493+518dupGTTAGGAAAGAAAGGAAGGTTAGGAAAGAA AGGAAG	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding	2/2			chr17	TogoVar
RDX_chr11_110224441_110301614	110237095	G G	GAACTATA others(29): Show GAACTATAACATATTATATATCTATAATATATTATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG03041.hp2 others(2): Show HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0025 a0001c0001t0010 a0001c0001t0025	a0001c0001t0010g0088 a0001c0001t0010g0100 a0001c0001t0010g0274 others(2): Show a0001c0001t0010g0088 a0001c0001t0010g0100 a0001c0001t0010g0274 a0001c0001t0010g0278 a0001c0001t0025g0087	5	376	0.0133	36	c.125 others(53): Show c.1251+361_1251+396dupATATAATATATTATAGATATATAATATG TTATAGTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	11/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110237109	T T	TATATATC others(29): Show TATATATCTATAATATATTATATAACTATAACATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG03130.hp2 others(1): Show HG02615.hp2 HG02630.hp1 HG03130.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0277 a0001c0001t0011g0284 others(1): Show a0001c0001t0011g0090 a0001c0001t0011g0277 a0001c0001t0011g0284 a0001c0001t0011g0326	4	376	0.0106	36	c.125 others(53): Show c.1251+347_1251+382dupTATATGTTATAGTTATATAATATATTAT AGATATAT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	11/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	376	0.0027	36	c.-65 others(53): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	392	0.0026	36	c.101 others(53): Show c.101-4105_101-4104insATATATATATATATATATATATATATAT ATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	166	0.0060	36	c.908 others(53): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(29): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA20905.hp1 HG03942.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0130 a0001c0001t0026g0108 a0001c0001t0002g0130 a0001c0001t0026g0108	2	166	0.0121	36	c.908 others(53): Show c.908-2238_908-2237insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401381	C C	CTCCTCCC others(29): Show CTCCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	354	0.0028	36	c.365 others(51): Show c.365+457_365+458insTCCTCCCTCCCTCCTCCTCCCTCCTTCCTC CCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8397354	C C	CTACGACT others(29): Show CTACGACTCTGAGGGAGGTTCTATTTGTGCCCCCATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02965.hp2 others(3): Show HG01167.hp1 HG02257.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0019 a0001c0004 a0001c0019	a0001c0004t0010 a0001c0004t0014 a0001c0004t0022 others(1): Show a0001c0004t0010 a0001c0004t0014 a0001c0004t0022 a0001c0019t0014	a0001c0004t0010g0107 a0001c0004t0010g0120 a0001c0004t0010g0142 others(3): Show a0001c0004t0010g0107 a0001c0004t0010g0120 a0001c0004t0010g0142 a0001c0004t0014g0126 a0001c0004t0022g0121 a0001c0019t0014g0119	6	204	0.0294	36	c.128 others(57): Show c.1284+25337_1284+25372dupAATGGGGGCACAAATAGAACCTCC CTCAGAGTCGTA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(29): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0003 a0009c0021t0003	a0009c0021t0003g0135 a0009c0021t0003g0135	1	204	0.0049	36	c.831 others(53): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0125 a0001c0002t0005g0125	1	204	0.0049	36	c.-14 others(57): Show c.-145+27858_-145+27859insATATATATATATATATATATATTT TTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19063.hp2 NA19068.hp2 others(1): Show HG00408.hp2 NA19063.hp2 NA19068.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0194 a0001c0002t0001g0156 a0001c0002t0001g0202 others(1): Show a0001c0001t0001g0194 a0001c0002t0001g0156 a0001c0002t0001g0202 a0001c0002t0001g0280	4	300	0.0133	36	c.62- others(53): Show c.62-40055_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905326	A A	AAATAATA others(29): Show AAATAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	408	0.0025	36	c.-28 others(47): Show c.-2897_-2896insAATAATATATATATATATATATATATATATATAT AT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
REST_chr4_56902900_56940844	56905326	A A	AAATTATA others(29): Show AAATTATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	408	0.0025	36	c.-28 others(47): Show c.-2897_-2896insAATTATATATATATATATATATATATATATATAT AT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
REST_chr4_56902900_56940844	56905328	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	408	0.0025	36	c.-28 others(47): Show c.-2895_-2894insTATATATATATATATATATATATATATATATATA TA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2571		chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA18985.hp1 NA19062.hp1 HG03831.hp1 NA18985.hp1 NA19062.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0001c0001t0006 a0005c0005t0019 a0001c0001t0003 a0001c0001t0006 a0005c0005t0019	a0001c0001t0003g0036 a0001c0001t0006g0178 a0005c0005t0019g0154 a0001c0001t0003g0036 a0001c0001t0006g0178 a0005c0005t0019g0154	3	408	0.0074	36	c.-28 others(47): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT AT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01106.hp1 others(17): Show HG00558.hp1 HG00673.hp2 HG01106.hp1 HG01975.hp2 HG01978.hp1 HG02145.hp1 HG02273.hp2 HG02602.hp1 HG02735.hp2 HG03041.hp2 HG03139.hp2 NA18612.hp2 NA18965.hp1 NA18970.hp1 NA18978.hp2 NA18983.hp2 NA18986.hp2 NA19003.hp2 NA19054.hp1 NA19060.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0007c0011 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0004 a0002c0002t0001 a0002c0002t0007 a0002c0002t0015 a0003c0003t0002 a0007c0011t0001 a0010c0016t0012	a0001c0001t0001g0226 a0001c0001t0002g0108 a0001c0001t0004g0005 others(17): Show a0001c0001t0001g0226 a0001c0001t0002g0108 a0001c0001t0004g0005 a0001c0006t0004g0102 a0002c0002t0001g0022 a0002c0002t0001g0050 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0258 a0002c0002t0001g0293 a0002c0002t0001g0310 a0002c0002t0007g0011 a0002c0002t0007g0047 a0002c0002t0015g0250 a0003c0003t0002g0001 a0003c0003t0002g0007 a0003c0003t0002g0032 a0003c0003t0002g0133 a0007c0011t0001g0283 a0010c0016t0012g0211	20	408	0.0490	36	c.-28 others(47): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT AA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0009 a0004c0004t0009g0009	1	408	0.0025	36	c.-28 others(47): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(29): Show GTATGTGTATGCATACATATGTATGTGTATGCATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	36	c.-23 others(47): Show c.-2339_-2338insTGTATGCATACACATACATATGTATGCATACACA TA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759562	C C	CATACGTA others(29): Show CATACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	36	c.-23 others(47): Show c.-2378_-2377insACACATACATACGTATGTATACACATACATACGT AT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2153		chr3	TogoVar

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Search Results (Total: 8848 hits)