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
RNF32_chr7_156635774_156682130	156680403	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA20300.hp2 HG02970.hp1 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0053 a0003c0003t0002g0053	2	448	0.0045	32	c.37 others(43): Show c.3748_*3749insGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		3274		chr7	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01516.hp2 HG01517.hp1 others(26): Show HG00639.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18953.hp1 NA18966.hp2 NA18968.hp2 NA18995.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0031	a0001c0001t0001g0005 a0001c0001t0001g0150 a0001c0001t0001g0285 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0150 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0353 a0001c0001t0001g0371 a0001c0001t0002g0172 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0004g0356 a0001c0001t0005g0012 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0009g0220 a0001c0001t0009g0223 a0001c0001t0009g0227 a0001c0001t0009g0232 a0001c0001t0011g0364 a0001c0001t0017g0009 a0001c0001t0031g0228	29	378	0.0767	32	c.-27 others(43): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116794672	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02523.hp2 NA18948.hp2 others(1): Show HG00544.hp1 HG02523.hp2 NA18948.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0087 others(1): Show a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0087 a0001c0001t0007g0171	4	268	0.0149	32	c.882 others(51): Show c.882+15345_882+15346insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	220	0.0046	32	c.150 others(53): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647711	A A	AAGAAAAA others(25): Show AAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	220	0.0046	32	c.150 others(53): Show c.1506+30641_1506+30642insCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTCT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79757503	C C	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0011 a0003c0006t0006g0011	1	44	0.0227	32	c.-51 others(51): Show c.-51+10248_-51+10249insTATATATATATATATATATATATATA TATATG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77188968	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01071.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0077 a0001c0001t0005g0043 a0001c0001t0001g0077 a0001c0001t0005g0043	2	160	0.0125	32	c.388 others(51): Show c.388+90629_388+90630insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277157	C C	CTTCTTTC others(25): Show CTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	160	0.0063	32	c.388 others(53): Show c.388+178824_388+178825insCTTCTTTCCTTCTTTCTTTCTTTC TTTCTTTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277230	G G	GTCTTTCT others(25): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG02055.hp2 HG03209.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0012 a0001c0002 a0006c0012	a0001c0002t0011 a0006c0012t0033 a0001c0002t0011 a0006c0012t0033	a0001c0002t0011g0047 a0006c0012t0033g0018 a0001c0002t0011g0047 a0006c0012t0033g0018	2	160	0.0125	32	c.388 others(53): Show c.388+178914_388+178915insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTACATAT others(25): Show GTACATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0041 a0001c0001t0006 a0001c0001t0041	a0001c0001t0006g0022 a0001c0001t0041g0054 a0001c0001t0006g0022 a0001c0001t0041g0054	2	160	0.0125	32	c.389 others(51): Show c.389-43926_389-43925insCATATATATATATATATATATATATA TATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0087 a0001c0003t0002g0087	1	160	0.0063	32	c.389 others(51): Show c.389-43926_389-43895dupATATATATATATATATATATATATAT ATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02809.hp1 HG02922.hp1 HG00609.hp1 HG02809.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0025 a0001c0003t0006 a0002c0002t0014 a0001c0001t0025 a0001c0003t0006 a0002c0002t0014	a0001c0001t0025g0261 a0001c0003t0006g0303 a0002c0002t0014g0066 a0001c0001t0025g0261 a0001c0003t0006g0303 a0002c0002t0014g0066	3	320	0.0094	32	c.463 others(49): Show c.463-2279_463-2248dupACACACACACACACACACACACACACAC ACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0051 a0002c0002t0003g0051	1	320	0.0031	32	c.142 others(49): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCTCTCTCT CTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(25): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02109.hp1 HG02572.hp1 others(8): Show HG01515.hp2 HG02109.hp1 HG02572.hp1 HG02735.hp1 HG03831.hp1 NA18947.hp1 NA18969.hp1 NA19010.hp1 NA19012.hp1 NA19079.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0058	a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0171 others(8): Show a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0007g0218 a0001c0001t0008g0127 a0001c0001t0016g0183 a0001c0001t0019g0167 a0001c0001t0020g0277 a0001c0001t0021g0146 a0001c0001t0058g0189	11	320	0.0344	32	c.142 others(49): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCCCCCTC TCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330740	G G	GGGAGGAG others(25): Show GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00639.hp2 others(20): Show HG00323.hp1 HG00597.hp1 HG00639.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03471.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0066 a0002c0002t0028 a0002c0002t0076	a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 others(20): Show a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0007g0211 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0007g0274 a0001c0001t0008g0135 a0001c0001t0023g0134 a0001c0001t0024g0216 a0001c0001t0033g0007 a0001c0001t0049g0109 a0001c0001t0050g0110 a0001c0001t0054g0214 a0001c0001t0066g0212 a0002c0002t0028g0314 a0002c0002t0028g0316 a0002c0002t0076g0315	23	320	0.0719	32	c.141 others(51): Show c.141+13255_141+13256insTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	63787476	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	96	0.0104	32	c.91+ others(49): Show c.91+12975_91+12976insTCCTTCCTTCCTTCCTGCCTTCCTGCCT TCCT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014773	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0016 a0002c0004t0003g0016	1	96	0.0104	32	c.163 others(49): Show c.163+5398_163+5399insTATATATATATATATATATATATATACA CACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014773	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	96	0.0104	32	c.163 others(49): Show c.163+5398_163+5399insTATATATATATATATATATATATATATA CACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91839275	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0112 a0002c0004t0003g0112	1	226	0.0044	32	c.98- others(49): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACACAC ACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60624513	G G	GTATATAT others(25): Show GTATATATATATATATAGTATATATATATTTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	118	0.0085	32	c.196 others(51): Show c.196+54143_196+54144insGCAAATATATATATACTATATATATA TATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03139.hp1 HG03195.hp2 others(1): Show HG00438.hp1 HG03139.hp1 HG03195.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 a0001c0003t0029	a0001c0001t0001g0046 a0001c0001t0017g0014 a0001c0001t0018g0089 others(1): Show a0001c0001t0001g0046 a0001c0001t0017g0014 a0001c0001t0018g0089 a0001c0003t0029g0070	4	118	0.0339	32	c.196 others(49): Show c.196+7589_196+7590insATATATATATATATATATATATATATAT ATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATTTAT others(25): Show GTATTTATATACTGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0100 a0001c0005t0025g0100	1	118	0.0085	32	c.167 others(53): Show c.167-137397_167-137396insTAAATACATATACTGTTTACAGTA TATAAATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG02258.hp1 others(1): Show HG00639.hp2 HG01099.hp2 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0009 a0001c0003t0014 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0003t0014 a0001c0004t0008	a0001c0001t0008g0033 a0001c0001t0009g0043 a0001c0003t0014g0114 others(1): Show a0001c0001t0008g0033 a0001c0001t0009g0043 a0001c0003t0014g0114 a0001c0004t0008g0005	4	118	0.0339	32	c.166 others(53): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(25): Show TATATATATATATATATACACACATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0169 a0002c0001t0001g0169	1	400	0.0025	32	c.-40 others(43): Show c.-4031_-4030insATATATATATATATATACACACATACACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01106.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0004 a0001c0001t0002 a0001c0007t0004	a0001c0001t0002g0133 a0001c0007t0004g0132 a0001c0001t0002g0133 a0001c0007t0004g0132	2	192	0.0104	32	c.399 others(49): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	456	0.0022	32	c.-27 others(43): Show c.-2792_-2791insACACACACACACACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	360	0.0028	32	c.235 others(49): Show c.235-2448_235-2447insTATATATATATATATATATATACACACA CACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	364	0.0028	32	c.361 others(51): Show c.3616+1951_3616+1952insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	332	0.0030	32	c.-42 others(43): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304416	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	332	0.0030	32	c.800 others(47): Show c.800+903_800+904insGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304420	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	332	0.0030	32	c.800 others(47): Show c.800+903_800+904insGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21354605	T T	TCTGTGAT others(25): Show TCTGTGATTCTTTCTGTCTTGTTTTGCTTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0237 a0004c0010t0001g0237	1	332	0.0030	32	c.33 others(43): Show c.3389_*3390insCTGTGATTCTTTCTGTCTTGTTTTGCTTTCTG	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		3305		chr14	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(25): Show AGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	133	0.0075	32	c.351 others(51): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	324702	G G	GCTATCTA others(25): Show GCTATCTATCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	133	0.0075	32	c.77+ others(47): Show c.77+2764_77+2765insATAGATAGATAGATAGATAGATAGATAGAT AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01952.hp2 HG02040.hp1 HG02056.hp1 others(9): Show HG01952.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02148.hp2 HG02630.hp2 HG02683.hp1 HG03130.hp1 HG03486.hp1 HG03540.hp2 NA18954.hp2 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0035 a0001c0001t0135 a0001c0001t0136 others(7): Show a0001c0001t0035 a0001c0001t0135 a0001c0001t0136 a0001c0001t0140 a0001c0001t0142 a0001c0002t0034 a0001c0002t0138 a0001c0002t0139 a0001c0003t0141 a0003c0005t0137	a0001c0001t0035g0011 a0001c0001t0035g0110 a0001c0001t0135g0028 others(9): Show a0001c0001t0035g0011 a0001c0001t0035g0110 a0001c0001t0135g0028 a0001c0001t0136g0147 a0001c0001t0140g0044 a0001c0001t0142g0180 a0001c0002t0034g0125 a0001c0002t0034g0145 a0001c0002t0138g0195 a0001c0002t0139g0089 a0001c0003t0141g0084 a0003c0005t0137g0165	12	266	0.0451	32	c.-27 others(41): Show c.-278_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877403	T T	TACACACA others(25): Show TACACACACACACGTATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0051 a0002c0004t0051	a0002c0004t0051g0035 a0002c0004t0051g0035	1	266	0.0038	32	c.117 others(49): Show c.1171+550_1171+581dupGTATACACACACACACACACACACACAC ACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877423	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACGTAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0124 a0002c0004t0124	a0002c0004t0124g0119 a0002c0004t0124g0119	1	266	0.0038	32	c.117 others(49): Show c.1171+585_1171+586insGTATACACACACACACACACACACACAC ACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877425	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACGTAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0069 a0002c0004t0069	a0002c0004t0069g0162 a0002c0004t0069g0162	1	266	0.0038	32	c.117 others(49): Show c.1171+587_1171+588insGTATACACACACACACACACACACACAC ACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	276	0.0036	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19010.hp2 NA19005.hp1 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	276	0.0073	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATATATTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATTTTTTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13_chr16_89555682_89569542	89565621	G G	GGCCGTGC others(25): Show GGCCGTGCCCGAGTGTGGGCCGTGCCCGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01081.hp2 others(41): Show HG00323.hp2 HG00621.hp1 HG01081.hp2 HG01255.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18940.hp2 NA18942.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA19004.hp1 NA19030.hp1 NA19063.hp2 NA19078.hp2 NA19085.hp2 NA19088.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0015 a0001c0004t0018 a0001c0004t0019	a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(15): Show a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0003g0002 a0001c0002t0003g0014 a0001c0002t0004g0001 a0001c0002t0008g0001 a0001c0002t0017g0002 a0001c0002t0020g0014 a0001c0002t0022g0002 a0001c0004t0003g0005 a0001c0004t0003g0025 a0001c0004t0009g0001 a0001c0004t0014g0016 a0001c0004t0015g0015 a0001c0004t0018g0005 a0001c0004t0019g0002	44	386	0.1140	32	c.25 others(43): Show c.2579_*2580insGCCGTGCCCGAGTGTGGGCCGTGCCCGAGTGT	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1080		chr16	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(25): Show GTCTGTCTGTCTGTCTGTCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	32	c.72 others(43): Show c.7260_*7261insTAGATAGATAGATAGACAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	418	0.0024	32	c.50 others(43): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18957.hp2 HG01358.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	32	c.26 others(43): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	32	c.-90 others(41): Show c.-900_-899insACACACACACACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384083	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	32	c.-93 others(41): Show c.-933_-932insTACACACACACACACACACACACACACACACA	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		891		chr17	TogoVar
RPL26_chr17_8372516_8388193	8386816	G G	GACATAGC others(25): Show GACATAGCAAAGCAGGGATTATAGCTAGATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	422	0.0024	32	c.-36 others(43): Show c.-3666_-3665insGGAATCTAGCTATAATCCCTGCTTTGCTATGT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		3624		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 NA18955.hp1 others(2): Show HG00423.hp1 HG00423.hp2 NA18955.hp1 NA19007.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	448	0.0112	32	c.44 others(43): Show c.4408_*4409insTATATATATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)