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.

⚠️ 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
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(10): Show GTTGTTGTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp2 HG01981.hp1 others(10): Show HG00140.hp1 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02165.hp2 HG02280.hp2 HG02602.hp1 HG03041.hp2 NA18522.hp1 NA18951.hp2 NA18961.hp2 NA18966.hp1 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(7): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0015 a0002c0001t0016 a0002c0001t0032 a0002c0001t0044 a0002c0001t0071 a0002c0001t0078	a0002c0001t0001g0022 a0002c0001t0001g0031 a0002c0001t0002g0110 others(10): Show a0002c0001t0001g0022 a0002c0001t0001g0031 a0002c0001t0002g0110 a0002c0001t0002g0246 a0002c0001t0003g0016 a0002c0001t0003g0039 a0002c0001t0004g0144 a0002c0001t0015g0028 a0002c0001t0016g0038 a0002c0001t0032g0298 a0002c0001t0044g0292 a0002c0001t0071g0122 a0002c0001t0078g0117	13	306	0.0425	17	c.171 others(34): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155716316	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0041 a0002c0001t0003g0041	1	306	0.0033	17	c.120 others(36): Show c.1202-2053_1202-2052insTTTTTTTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM39_chr20_35696347_35747260	35713666	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	274	0.0037	17	c.109 others(34): Show c.1096+502_1096+518dupTTTTTTTTTTTTTTTTT	RBM39	ENSG00000131051.24	transcript	ENST00000253363.11	protein_coding	11/16			chr20	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00733.hp2 others(11): Show HG00544.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG02293.hp1 HG03710.hp1 NA18947.hp2 NA18955.hp1 NA18974.hp2 NA18981.hp1 NA18999.hp1 NA19000.hp2 NA19087.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0076	14	428	0.0327	17	c.13 others(28): Show c.1354_*1355insAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437073	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0110 a0001c0001t0022g0110	1	278	0.0036	17	c.112 others(34): Show c.1124-443_1124-427dupTTTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0208 a0001c0001t0015g0208	1	278	0.0036	17	c.112 others(34): Show c.1124-444_1124-443insATATATTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40600985	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0259 a0001c0001t0051g0259	1	278	0.0036	17	c.-24 others(38): Show c.-240+28394_-240+28410dupTTTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92544398	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01943.hp1 HG02056.hp1 others(17): Show HG00597.hp2 HG01943.hp1 HG02056.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 NA18956.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA19003.hp1 NA19006.hp1 NA19010.hp2 NA19030.hp1 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 a0001c0001t0030 a0001c0004t0013	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0005g0002 a0001c0001t0005g0016 a0001c0001t0009g0020 a0001c0001t0018g0075 a0001c0001t0030g0017 a0001c0004t0013g0006	20	396	0.0505	17	c.74 others(28): Show c.7461_*7462insTTTTTTTTTTTTTTTTT	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding		3918		chr7	TogoVar
RBM6_chr3_49935150_50082249	49971190	T T	TGGGAGGC others(10): Show TGGGAGGCAGAGGTTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(32): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01934.hp1 HG02004.hp1 HG02074.hp2 HG02155.hp1 HG03927.hp1 HG04184.hp1 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19057.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0001 a0001c0002t0001 a0004c0007t0001	a0001c0002t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0150 others(32): Show a0001c0002t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0004c0007t0001g0171 a0004c0007t0001g0173 a0004c0007t0001g0203	35	218	0.1606	17	c.132 others(34): Show c.1324-852_1324-836dupGGGGAGGCAGAGGTTGC	RBM6	ENSG00000004534.15	transcript	ENST00000266022.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29276579	A A	ATAATTTT others(10): Show ATAATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG03453.hp1 HG02622.hp2 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0083 a0001c0001t0085 a0001c0001t0012 a0001c0001t0083 a0001c0001t0085	a0001c0001t0012g0004 a0001c0001t0083g0019 a0001c0001t0085g0015 a0001c0001t0012g0004 a0001c0001t0083g0019 a0001c0001t0085g0015	3	116	0.0259	17	c.-51 others(28): Show c.-5103_-5102insTAATTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding		4491		chr3	TogoVar
RBMS3_chr3_29276071_30015386	29280363	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG02055.hp2 others(5): Show HG00280.hp1 HG01261.hp1 HG02055.hp2 HG02451.hp1 HG02559.hp1 NA18957.hp1 NA18994.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 a0001c0001t0068 a0001c0001t0073 a0001c0001t0077 a0001c0002t0047 a0001c0002t0053	a0001c0001t0006g0053 a0001c0001t0008g0079 a0001c0001t0025g0010 others(5): Show a0001c0001t0006g0053 a0001c0001t0008g0079 a0001c0001t0025g0010 a0001c0001t0068g0109 a0001c0001t0073g0070 a0001c0001t0077g0057 a0001c0002t0047g0038 a0001c0002t0053g0011	8	116	0.0690	17	c.-13 others(28): Show c.-1319_-1318insTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding		707		chr3	TogoVar
RBMS3_chr3_29276071_30015386	29535710	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	116	0.0086	17	c.307 others(36): Show c.307+47226_307+47242dupTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29559510	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0085 a0001c0001t0048g0085	1	116	0.0086	17	c.308 others(36): Show c.308-27577_308-27561dupAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29648263	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0068 a0001c0002t0086g0068	1	116	0.0086	17	c.399 others(36): Show c.399+61064_399+61080dupTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0031 a0001c0001t0074g0031	1	116	0.0086	17	c.940 others(34): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG02257.hp1 HG02896.hp2 HG01515.hp1 HG02257.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0004 a0001c0001t0001g0029	3	446	0.0067	17	c.-11 others(28): Show c.-1118_-1117insTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPJL_chr20_45301840_45322824	45320190	C C	CAAAAAAA others(10): Show CAAAAAAATAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	446	0.0022	17	c.32 others(28): Show c.3231_*3232insAAAAAAATAAAAAAAAT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		2367		chr20	TogoVar
RBPJ_chr4_26316014_26439923	26384996	C C	CTCCTCCC others(10): Show CTCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0123 a0001c0001t0001g0102 a0001c0001t0001g0123	2	316	0.0063	17	c.21- others(32): Show c.21-1352_21-1336dupCCCCTCCCCCCTTTCCT	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
RBPMS_chr8_30379541_30577256	30419450	A A	ATTGTGTG others(10): Show ATTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01993.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG01993.hp1 HG02004.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0001t0002g0128	5	304	0.0165	17	c.66+ others(34): Show c.66+34293_66+34294insTGTGTGTGTGTGTGTGT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30514680	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0176 a0001c0001t0001g0187	2	304	0.0066	17	c.397 others(36): Show c.397+10251_397+10267dupTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03017.hp1 HG02717.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0299 a0001c0001t0022g0037 a0001c0001t0006g0299 a0001c0001t0022g0037	2	304	0.0066	17	c.397 others(36): Show c.397+14263_397+14279dupTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078775	A A	AAATACAT others(10): Show AAATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0081 a0001c0001t0012g0081	1	360	0.0028	17	c.912 others(32): Show c.912-615_912-614insATATATATATATGTATT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RC3H1_chr1_173926084_174027357	173929807	T T	TATTTATT others(10): Show TATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG03516.hp1 others(2): Show HG02572.hp2 HG02723.hp1 HG03516.hp1 NA20300.hp1 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0035 a0002c0003t0036 a0002c0003t0134 a0002c0003t0035 a0002c0003t0036 a0002c0003t0134	a0002c0003t0035g0107 a0002c0003t0035g0108 a0002c0003t0036g0099 others(2): Show a0002c0003t0035g0107 a0002c0003t0035g0108 a0002c0003t0036g0099 a0002c0003t0036g0106 a0002c0003t0134g0111	5	310	0.0161	17	c.89 others(28): Show c.8913_*8914insTAAATAAATAAATAAAT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1276		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA18963.hp1 NA18992.hp1 HG03927.hp1 NA18963.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0113 a0001c0001t0133 a0001c0001t0019 a0001c0001t0113 a0001c0001t0133	a0001c0001t0019g0025 a0001c0001t0113g0097 a0001c0001t0133g0062 a0001c0001t0019g0025 a0001c0001t0113g0097 a0001c0001t0133g0062	3	310	0.0097	17	c.88 others(28): Show c.8889_*8890insTAAAAAAAAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02976.hp1 others(3): Show HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0031 a0001c0001t0083 a0001c0002t0009 others(1): Show a0001c0001t0031 a0001c0001t0083 a0001c0002t0009 a0003c0008t0016	a0001c0001t0031g0074 a0001c0001t0031g0075 a0001c0001t0083g0224 others(3): Show a0001c0001t0031g0074 a0001c0001t0031g0075 a0001c0001t0083g0224 a0001c0002t0009g0087 a0003c0008t0016g0077 a0003c0008t0016g0223	6	310	0.0194	17	c.313 others(35): Show c.3135+997_3135+1013dupTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01168.hp1 others(19): Show HG00558.hp1 HG00609.hp1 HG01168.hp1 HG01261.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02165.hp2 HG03225.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18522.hp2 NA18950.hp1 NA18955.hp1 NA18980.hp1 NA19002.hp1 NA19009.hp2 NA19060.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0014 a0001c0001 a0002c0003 a0007c0014	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 others(13): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0051 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0125 a0001c0001t0133 a0002c0003t0018 a0002c0003t0034 a0002c0003t0098 a0007c0014t0006	a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0006g0053 others(19): Show a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0058 a0001c0001t0014g0051 a0001c0001t0014g0052 a0001c0001t0019g0012 a0001c0001t0019g0037 a0001c0001t0022g0028 a0001c0001t0022g0030 a0001c0001t0023g0048 a0001c0001t0051g0007 a0001c0001t0099g0038 a0001c0001t0100g0011 a0001c0001t0101g0016 a0001c0001t0125g0044 a0001c0001t0133g0062 a0002c0003t0018g0100 a0002c0003t0034g0101 a0002c0003t0098g0103 a0007c0014t0006g0047	22	310	0.0710	17	c.252 others(36): Show c.2523+1549_2523+1565dupTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19			chr1	TogoVar
RCBTB1_chr13_49526946_49590558	49563775	A A	ATGCTCAG others(10): Show ATGCTCAGATTTGGATTT	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0397 a0001c0001t0001g0397	1	418	0.0024	17	c.277 others(34): Show c.277+2826_277+2842dupAAATCCAAATCTGAGCA	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCBTB1_chr13_49526946_49590558	49564583	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	418	0.0024	17	c.277 others(34): Show c.277+2018_277+2034dupTTTTTTTTTTTTTTTTT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCC1_chr1_28501043_28543989	28543237	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	294	0.0034	17	c.52 others(28): Show c.5230_*5231insTATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4249		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0270 a0001c0003t0002g0270	1	294	0.0034	17	c.52 others(28): Show c.5232_*5233insAAAAAAAAAATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	294	0.0034	17	c.52 others(28): Show c.5232_*5233insAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	294	0.0034	17	c.52 others(28): Show c.5232_*5233insTATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17414791	C C	CAGCTGAT others(10): Show CAGCTGATTTTTGTGGTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0276	1	390	0.0026	17	c.102 others(36): Show c.1027-1091_1027-1075dupAACCACAAAAATCAGCT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	8/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431333	C C	CAAAAAAA others(10): Show CAAAAAAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 NA18963.hp2 HG01361.hp2 HG01496.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0007 a0001c0012t0002 a0001c0001t0007 a0001c0012t0002	a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0012t0002g0314 a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0012t0002g0314	3	390	0.0077	17	c.286 others(34): Show c.286-2135_286-2134insATTTTTTATTTTTTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	390	0.0026	17	c.286 others(34): Show c.286-2161_286-2160insATATATATATATATATT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(10): Show ATAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03942.hp2 NA19003.hp2 HG02602.hp2 HG03942.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0266 a0001c0001t0004g0215 a0001c0001t0004g0302 a0001c0001t0003g0266 a0001c0001t0004g0215 a0001c0001t0004g0302	3	390	0.0077	17	c.286 others(34): Show c.286-2161_286-2160insATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17439937	G G	GGGCCTTC others(10): Show GGGCCTTCCACGCAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18975.hp1 NA18942.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0161 a0001c0002t0002g0162	2	390	0.0051	17	c.-40 others(26): Show c.-402_-401insGCACTGCGTGGAAGGCC	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding		261		chr1	TogoVar
RCN2_chr15_76926749_76959393	76953593	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0103 a0001c0005t0103	a0001c0005t0103g0106 a0001c0005t0103g0106	1	422	0.0024	17	c.43 others(28): Show c.4372_*4373insATATATATATATATATT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4373	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCN2_chr15_76926749_76959393	76953593	A A	ATATATAT others(10): Show ATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA19065.hp1 NA18978.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0109 a0001c0001t0083 a0001c0001t0109	a0001c0001t0083g0011 a0001c0001t0109g0002 a0001c0001t0083g0011 a0001c0001t0109g0002	2	422	0.0047	17	c.43 others(28): Show c.4372_*4373insATATATATATATTTTTT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4373	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCOR1_chr14_102587649_102735561	102706114	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0137 a0001c0001t0005g0122 a0001c0001t0005g0137	2	292	0.0069	17	c.499 others(34): Show c.499-1225_499-1209dupAAAAAAAAAAAAAAAAA	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR3_chr1_211254366_211321385	211293118	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04115.hp2 NA20752.hp2 HG01192.hp1 HG04115.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0029 a0001c0001t0001g0267 a0001c0001t0001g0273	3	324	0.0093	17	c.940 others(34): Show c.940-2556_940-2555insATAAATAAATAAATAAA	RCOR3	ENSG00000117625.14	transcript	ENST00000419091.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00741.hp2 others(19): Show HG00280.hp1 HG00639.hp2 HG00741.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp2 HG02148.hp1 HG02280.hp1 HG02293.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 NA18946.hp1 NA18954.hp2 NA18957.hp1 NA18969.hp1 NA19058.hp1 NA19066.hp2 NA19087.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0003c0004t0025	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0265 a0001c0001t0001g0347 a0001c0001t0003g0041 a0001c0001t0003g0060 a0001c0001t0003g0130 a0001c0001t0004g0072 a0001c0001t0006g0153 a0001c0001t0010g0073 a0001c0001t0024g0159 a0003c0004t0025g0034	22	350	0.0629	17	c.-30 others(28): Show c.-3055_-3054insTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG02293.hp2 others(1): Show HG00438.hp2 HG01175.hp2 HG02293.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0040 a0001c0001t0003g0041 a0001c0001t0011g0042 others(1): Show a0001c0001t0002g0040 a0001c0001t0003g0041 a0001c0001t0011g0042 a0001c0001t0011g0043	4	350	0.0114	17	c.6+3 others(28): Show c.6+308_6+324dupAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCVRN_chr17_9891320_9910271	9901103	G G	GTAATAGT others(10): Show GTAATAGTATAATTATAT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0116 a0004c0005t0001g0116	1	480	0.0021	17	c.382 others(28): Show c.382-4_382-3insATATAATTATACTATTA	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding	1/2			chr17	TogoVar
RD3L_chr14_103935426_103947529	103939743	G G	GTTTTTTT others(10): Show GTTTTTTTGTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	17	c.10 others(28): Show c.1062_*1063insAAAAAAAAACAAAAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		682		chr14	TogoVar
RD3L_chr14_103935426_103947529	103939743	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02257.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	440	0.0046	17	c.10 others(28): Show c.1046_*1062dupAAAAAAAAAAAAAAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		682		chr14	TogoVar
RD3_chr1_211471522_211497162	211474831	C C	CTCCTTTT others(10): Show CTCCTTTTTCGGTTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	416	0.0024	17	c.42 others(28): Show c.4204_*4205insTATAAACCGAAAAAGGA	RD3	ENSG00000198570.7	transcript	ENST00000680073.1	protein_coding		1690		chr1	TogoVar
RDH10_chr8_73289602_73330281	73325952	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	396	0.0025	17	c.29 others(28): Show c.2916_*2917insTGTGTGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		672		chr8	TogoVar
RDH11_chr14_67671800_67700764	67674340	T T	TGCGCTCC others(10): Show TGCGCTCCCCACGGCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	438	0.0023	17	c.39 others(28): Show c.3964_*3980dupCACGCCGTGGGGAGCGC	RDH11	ENSG00000072042.13	transcript	ENST00000381346.9	protein_coding		2459		chr14	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02886.hp1 others(9): Show HG02145.hp1 HG02622.hp1 HG02886.hp1 HG02896.hp1 HG03098.hp1 HG03540.hp1 HG04184.hp1 HG06807.hp2 NA19007.hp1 NA19030.hp1 NA19072.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(9): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0188	12	188	0.0638	17	c.160 others(36): Show c.160-10941_160-10925dupAAAAAAAAAAAAAAAAA	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)