Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF111_chr15_58982663_59102419	59098865	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	330	0.0030	25	c.39 others(36): Show c.3965_*3966insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF111	ENSG00000157450.16	transcript	ENST00000348370.9	protein_coding		1447		chr15	TogoVar
RNF114_chr20_49931397_49958885	49947769	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0012 a0003c0002t0012	a0003c0002t0012g0045 a0003c0002t0012g0045	1	426	0.0024	25	c.514 others(42): Show c.514-1463_514-1439dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNF114	ENSG00000124226.11	transcript	ENST00000244061.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF115_chr1_145733868_145829095	145821457	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0207 a0001c0001t0011g0207	1	272	0.0037	25	c.102 others(42): Show c.102+2290_102+2314dupAAAAAAAAAAAAAAAAAAAAAAAAA	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	1/8			chr1	TogoVar
RNF128_chrX_106721701_106802016	106763927	T T	TTTTGGTT others(18): Show TTTTGGTTTGGTTTGGTTTGGTTTGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0155 a0001c0001t0001g0034 a0001c0001t0001g0155	2	209	0.0096	25	c.485 others(42): Show c.485-8972_485-8948dupGGTTTGGTTTGGTTTGGTTTGGTTT	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF128_chrX_106721701_106802016	106788332	T T	TACTATAT others(18): Show TACTATATATAATATATATTATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	209	0.0048	25	c.887 others(40): Show c.887+333_887+357dupACTATATATAATATATATTATATAC	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF128_chrX_106721701_106802016	106789070	G G	GTATATAT others(18): Show GTATATATACTATATAGTATATAGTA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	209	0.0048	25	c.887 others(42): Show c.887+1086_888-1076dupGTATATAGTATATATATACTATATA	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01928.hp2 HG00408.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0274 a0001c0001t0001g0276	2	340	0.0059	25	c.693 others(44): Show c.693+14174_693+14175insTATATATATATATATATATATATAT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180055248	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	340	0.0029	25	c.248 others(44): Show c.248-14626_248-14602dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	1/8			chr5	TogoVar
RNF13_chr3_149808215_149967139	149860270	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03492.hp2 HG02738.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0015 a0001c0001t0001g0022	2	280	0.0071	25	c.195 others(42): Show c.195+7675_195+7676insAAAAAAAAAAATATATATATATATA	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03195.hp2 others(1): Show HG02723.hp1 HG02970.hp2 HG03195.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001	a0001c0001t0003g0065 a0001c0001t0008g0193 a0001c0001t0014g0190 others(1): Show a0001c0001t0003g0065 a0001c0001t0008g0193 a0001c0001t0014g0190 a0001c0002t0001g0189	4	374	0.0107	25	c.-48 others(42): Show c.-48+1422_-48+1423insTATATATATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF148_chr7_122696668_122707922	122706315	T T	TACATATA others(18): Show TACATATATGCTTATATATTCAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	25	c.-35 others(36): Show c.-3566_-3565insTCCTTGAATATATAAGCATATATGT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3394		chr7	TogoVar
RNF150_chr4_140854807_141138469	140999969	G G	GAAGAAGA others(18): Show GAAGAAGAAGAAGAAGAAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02896.hp2 others(1): Show HG01243.hp2 HG02615.hp2 HG02896.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0094 others(1): Show a0001c0001t0001 a0001c0001t0059 a0001c0001t0094 a0001c0001t0096	a0001c0001t0001g0032 a0001c0001t0059g0139 a0001c0001t0094g0024 others(1): Show a0001c0001t0001g0032 a0001c0001t0059g0139 a0001c0001t0094g0024 a0001c0001t0096g0098	4	184	0.0217	25	c.485 others(44): Show c.485-32097_485-32096insTTCTTCTTTTCTTCTTCTTCTTCTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF183_chr9_113292093_113308376	113308170	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19070.hp1 NA19070.hp2 NA19002.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	440	0.0068	25	c.-55 others(36): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTCTTTT	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF183_chr9_113292093_113308376	113308170	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	25	c.-55 others(36): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTCTTTC	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	350	0.0029	25	c.20 others(36): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF212B_chr14_23232936_23278477	23275543	A A	AGTAACAG others(18): Show AGTAACAGACCTCCCCTCCCCCAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	368	0.0027	25	c.26 others(36): Show c.2652_*2653insGTAACAGACCTCCCCTCCCCCAGCT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2067		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23277397	A A	AAAGTCCA others(18): Show AAAGTCCATAGACGTTAAATTACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	368	0.0027	25	c.45 others(36): Show c.4506_*4507insAAGTCCATAGACGTTAAATTACCCC	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		3921		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23277456	A A	AAAAATCT others(18): Show AAAAATCTGTCTTTAAAGCCAGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	368	0.0027	25	c.45 others(36): Show c.4565_*4566insAAAATCTGTCTTTAAAGCCAGCCAT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		3980		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23278099	T T	TACAGGCA others(18): Show TACAGGCATGAGTCACCACACCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	368	0.0027	25	c.52 others(36): Show c.5208_*5209insACAGGCATGAGTCACCACACCCAGC	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		4623		chr14	TogoVar
RNF216_chr7_5615047_5786663	5740104	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0154 a0001c0002t0015g0154	1	274	0.0037	25	c.104 others(42): Show c.1045-777_1045-753dupAAAAAAAAAAAAAAAAAAAAAAAAA	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	4/16			chr7	TogoVar
RNF24_chr20_3922311_4020558	3966507	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0019 a0001c0001t0050g0019	1	362	0.0028	25	c.-7- others(40): Show c.-7-2484_-7-2483insCACACACACACACACACACACACAC	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185076268	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	350	0.0029	25	c.-2- others(42): Show c.-2-11268_-2-11244dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01123.hp1 others(5): Show HG00438.hp1 HG01081.hp1 HG01123.hp1 HG01515.hp2 HG03490.hp2 HG04115.hp1 NA18972.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0084 others(5): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0084 a0001c0001t0003g0178 a0001c0001t0004g0081 a0001c0001t0004g0099 a0001c0001t0004g0109 a0001c0001t0015g0231	8	350	0.0229	25	c.-2- others(40): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(18): Show TCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp1 NA18951.hp2 others(2): Show HG02809.hp1 HG03195.hp1 NA18951.hp2 NA19058.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0264 a0001c0001t0003g0248 a0001c0001t0004g0084 others(2): Show a0001c0001t0002g0264 a0001c0001t0003g0248 a0001c0001t0004g0084 a0001c0001t0008g0307 a0001c0001t0009g0223	5	378	0.0132	25	c.-15 others(44): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2505723	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0350 a0001c0001t0015g0350	1	378	0.0027	25	c.204 others(42): Show c.204+4991_204+5015dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518307	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0223 a0001c0001t0009g0223	1	378	0.0027	25	c.44 others(36): Show c.4488_*4489insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2451		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116782079	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	268	0.0037	25	c.882 others(42): Show c.882+2746_882+2747insAAAAAAAAAAAAAAAAAAAAAAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116785275	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03654.hp1 HG01261.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0057 a0001c0001t0019 a0001c0001t0057	a0001c0001t0019g0187 a0001c0001t0057g0188 a0001c0001t0019g0187 a0001c0001t0057g0188	2	268	0.0075	25	c.882 others(42): Show c.882+5927_882+5928insTGTGTGTGTGTGTGTGTGTGTGTGT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNFT2_chr12_116733315_116858631	116800812	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18962.hp2 NA18984.hp2 NA18956.hp1 NA18962.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0040g0143 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0040g0143	3	268	0.0112	25	c.882 others(44): Show c.882+21490_882+21514dupTAAAATAAAATAAAATAAAATAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832140	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0020 a0001c0013t0020	a0001c0013t0020g0098 a0001c0013t0020g0098	1	268	0.0037	25	c.883 others(42): Show c.883-1652_883-1651insTATATATATATATATATATATATAT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03831.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG03831.hp1 HG04115.hp2 NA18945.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0002g0178	6	220	0.0273	25	c.150 others(46): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAGAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0158 a0001c0001t0011g0158	1	220	0.0046	25	c.150 others(46): Show c.1506+30637_1506+30638insCTTCTTTTTTCTTTTTTTTTTTTT T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88755959	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	220	0.0046	25	c.143 others(46): Show c.1439+13790_1439+13814dupTTTTTTTTTTTTTTTTTTTTTTTT T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88847637	A A	ATGTATTG others(18): Show ATGTATTGAATAAACAATTATTGACC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	220	0.0046	25	c.110 others(44): Show c.1104+2093_1104+2117dupGGTCAATAATTGTTTATTCAATACA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	10/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88901495	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0173	1	220	0.0046	25	c.684 others(42): Show c.684+3195_684+3219dupAAAAAAAAAAAAAAAAAAAAAAAAA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	6/15			chr6	TogoVar
RNH1_chr11_489515_512242	494148	C C	CGCTGGGC others(18): Show CGCTGGGCTGGGCTGGGCTGGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0148 a0001c0005t0001g0148	1	387	0.0026	25	c.54 others(34): Show c.542_*543insCCAGCCCAGCCCAGCCCAGCCCAGC	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		366		chr11	TogoVar
RNMT_chr18_13721673_13769556	13744159	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	376	0.0027	25	c.113 others(44): Show c.1139+1509_1139+1533dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ROBO1_chr3_78592239_79772998	78711348	C C	CTCCTTTC others(18): Show CTCCTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	44	0.0227	25	c.104 others(44): Show c.1045+3048_1045+3049insAGAAAGAAAGAAAGAAAAGAAAGGA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78842281	A A	ATTTATAT others(18): Show ATTTATATATATGAGCCATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0031 a0004c0010t0002g0031	1	44	0.0227	25	c.500 others(44): Show c.500-95382_500-95381insAATATATATGGCTCATATATATAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79484755	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02717.hp2 HG01243.hp1 HG02280.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0003t0001g0023 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0003t0001g0023	3	44	0.0682	25	c.88+ others(44): Show c.88+105068_88+105069insAAAAAAAAAAAAAAAAAAAAAAAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	44	0.0227	25	c.88+ others(42): Show c.88+39628_88+39629insTTTTCTTTCTTTCCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252829	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18945.hp2 HG00642.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0061 a0001c0001t0004g0150 a0001c0001t0001g0061 a0001c0001t0004g0150	2	160	0.0125	25	c.388 others(46): Show c.388+154489_388+154490insTATATATATATATATATATATATA T	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG01243.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0017 a0001c0003t0007 a0001c0002t0017 a0001c0003t0007	a0001c0002t0017g0085 a0001c0003t0007g0115 a0001c0002t0017g0085 a0001c0003t0007g0115	2	160	0.0125	25	c.388 others(46): Show c.388+154492_388+154493insAAAAATATATATATATATATATAT A	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77386603	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	160	0.0063	25	c.389 others(44): Show c.389-90794_389-90793insTTTTTTTTTTTTTTTTTTTTTTTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77598438	T T	TATATATA others(18): Show TATATATATATATTTATTTATATAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0016 a0001c0002t0021g0016	1	160	0.0063	25	c.286 others(44): Show c.2866+1698_2866+1699insATTTATTTATATAGAATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77599647	T T	TAAAAAAA others(18): Show TAAAAAAATAAATAAAAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	160	0.0063	25	c.286 others(44): Show c.2867-2560_2867-2536dupAAAAATAAATAAAAAATAAATAAAA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959040	A A	AAAATAAT others(18): Show AAAATAATATATATATTTTATATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	212	0.0047	25	c.351 others(42): Show c.3512+799_3512+800insATTATATAAAATATATATATTATTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959086	T T	TATATATA others(18): Show TATATATAATATATATAATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	212	0.0047	25	c.351 others(42): Show c.3512+753_3512+754insTATATATATTATATATATTATATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATATATAT others(18): Show ATATATATATTATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG01167.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	212	0.0094	25	c.351 others(42): Show c.3512+707_3512+708insATATATATATTATATAATATATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	212	0.0047	25	c.105 others(44): Show c.1052-4944_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTTTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)