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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⚠️ 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
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp1 HG06807.hp2 HG03130.hp2 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0011 a0001c0005t0019 a0001c0001t0001 a0001c0003t0011 a0001c0005t0019	a0001c0001t0001g0073 a0001c0003t0011g0108 a0001c0005t0019g0030 a0001c0001t0001g0073 a0001c0003t0011g0108 a0001c0005t0019g0030	3	204	0.0147	21	c.522 others(38): Show c.522+7006_522+7026dupAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp2 HG02886.hp1 others(2): Show HG01175.hp2 HG02109.hp2 HG02886.hp1 HG03225.hp1 NA18906.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0021 a0001c0002 a0009c0021	a0001c0002t0005 a0001c0002t0028 a0009c0021t0003 a0001c0002t0005 a0001c0002t0028 a0009c0021t0003	a0001c0002t0005g0129 a0001c0002t0005g0132 a0001c0002t0005g0136 others(2): Show a0001c0002t0005g0129 a0001c0002t0005g0132 a0001c0002t0005g0136 a0001c0002t0028g0133 a0009c0021t0003g0135	5	204	0.0245	21	c.-14 others(42): Show c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0131 a0001c0002t0005g0131	1	204	0.0049	21	c.-14 others(42): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0040 a0001c0004t0040	a0001c0004t0040g0199 a0001c0004t0040g0199	1	204	0.0049	21	c.-14 others(42): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0109 a0001c0004t0003g0109	1	204	0.0049	21	c.-14 others(42): Show c.-145+27858_-145+27859insATATATATATATATATATATT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8809157	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0120 a0001c0004t0010g0120	1	204	0.0049	21	c.-14 others(40): Show c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15126156	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0188 a0001c0002t0001g0189 a0001c0001t0002g0188 a0001c0002t0001g0189	2	300	0.0067	21	c.62- others(36): Show c.62-5038_62-5037insTATATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56907875	T T	TGGCGGCG others(14): Show TGGCGGCGGCGGTGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02622.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02622.hp1 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0031 a0002c0002t0001 a0002c0002t0031	a0002c0002t0001g0024 a0002c0002t0031g0218 a0002c0002t0001g0024 a0002c0002t0031g0218	4	408	0.0098	21	c.-34 others(30): Show c.-348_-347insGGCGGCGGCGGTGGCGGCGGC	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		24		chr4	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA18945.hp2 NA18953.hp1 others(4): Show HG03195.hp2 NA18945.hp2 NA18953.hp1 NA18979.hp1 NA19067.hp1 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0003g0007	7	458	0.0153	21	c.45 others(32): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG3_chr17_42574515_42614374	42596359	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	360	0.0028	21	c.240 others(38): Show c.240-4218_240-4198dupTTTTTTTTTTTTTTTTTTTTT	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RET_chr10_43072069_43135351	43075268	A A	ACCTTTTT others(14): Show ACCTTTTTCCAAGGAGTAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0263 a0004c0010t0002g0263	1	382	0.0026	21	c.-19 others(32): Show c.-1991_-1990insCCTTTTTCCAAGGAGTAAATG	RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding		1800		chr10	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	372	0.0027	21	c.476 others(38): Show c.476-1250_476-1249insATATATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01934.hp2 HG01074.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0197 a0001c0002t0001g0274 a0001c0001t0001g0197 a0001c0002t0001g0274	2	372	0.0054	21	c.476 others(38): Show c.476-1217_476-1216insATATATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0133 a0001c0002t0010g0133	1	276	0.0036	21	c.332 others(38): Show c.332-1392_332-1372dupTTTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFK_chr9_76380526_76399426	76387622	C C	CTGGCAGT others(14): Show CTGGCAGTATCTCTGCACAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18946.hp2 NA18964.hp2 others(2): Show HG02074.hp1 NA18946.hp2 NA18964.hp2 NA18979.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0089 a0001c0001t0002g0015 a0001c0001t0002g0089	5	408	0.0123	21	c.338 others(35): Show c.338-114_338-94dupCCCTGTGCAGAGATACTGCCA	RFK	ENSG00000135002.12	transcript	ENST00000376736.6	protein_coding	3/3			chr9	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp1 HG02055.hp2 others(4): Show HG01255.hp2 HG01256.hp1 HG02055.hp2 HG02615.hp2 NA18906.hp2 NA19009.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0002c0005t0005	a0001c0001t0001g0275 a0001c0001t0001g0320 a0001c0001t0001g0328 others(4): Show a0001c0001t0001g0275 a0001c0001t0001g0320 a0001c0001t0001g0328 a0001c0001t0001g0364 a0001c0001t0008g0106 a0001c0001t0021g0058 a0002c0005t0005g0064	7	388	0.0180	21	c.208 others(38): Show c.208-1642_208-1622dupAAAAAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310531	T T	TTAGGCCA others(14): Show TTAGGCCACTTTCTGTTGAGGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19079.hp2 HG01169.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0311 a0001c0001t0005g0256 a0001c0001t0004g0311 a0001c0001t0005g0256	2	388	0.0052	21	c.208 others(38): Show c.208-1287_208-1286insTAGGCCACTTTCTGTTGAGGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFTN1_chr3_16310845_16518699	16313205	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0053 a0001c0002t0011g0053	1	268	0.0037	21	c.36 others(32): Show c.3622_*3623insAAAAAAAAAAAAAAAAAAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding		2639		chr3	TogoVar
RFTN1_chr3_16310845_16518699	16345301	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0012 a0002c0003t0004g0012	1	268	0.0037	21	c.114 others(42): Show c.1146+12630_1146+12631insCACACACACACACACACACAC	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	268	0.0037	21	c.442 others(38): Show c.442-9469_442-9468insGAGAGAGAGAGAGAGAGAGAG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404075	T T	TATAATAT others(14): Show TATAATATATATTTCATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	268	0.0037	21	c.441 others(38): Show c.441+5299_441+5300insTATATATGAAATATATATTAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197665517	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02965.hp1 HG02896.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0140 a0001c0001t0003g0071 a0001c0001t0002g0140 a0001c0001t0003g0071	2	312	0.0064	21	c.139 others(38): Show c.139+9802_139+9803insAAAAAAAAAAAAAAAAAAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	1/8			chr2	TogoVar
RFX4_chr12_106578004_106767803	106618179	T T	TTATAGAT others(14): Show TTATAGATTATATACATATGTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp1 HG02074.hp2 HG00609.hp1 HG02027.hp1 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0048 a0001c0002t0001g0082 a0001c0002t0001g0001 a0001c0002t0001g0048 a0001c0002t0001g0082	3	296	0.0101	21	c.130 others(38): Show c.130+9314_130+9334dupTGTATATAGATTATATACATA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX7_chr15_56082280_56248879	56224467	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	360	0.0028	21	c.161 others(40): Show c.161+18657_161+18658insCACACACACACACACACACAC	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	2/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101464845	A A	AAAGAACT others(14): Show AAAGAACTTTTTGCTATGTTTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18951.hp1 NA18952.hp2 others(3): Show NA18612.hp1 NA18951.hp1 NA18952.hp2 NA18983.hp1 NA18999.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0210 a0002c0002t0001g0006 a0002c0002t0001g0209 others(1): Show a0001c0001t0001g0210 a0002c0002t0001g0006 a0002c0002t0001g0209 a0002c0002t0001g0233	6	352	0.0171	21	c.72+ others(36): Show c.72+1931_72+1932insCAAACATAGCAAAAAGTTCTT	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	2/11			chr2	TogoVar
RGL1_chr1_183800120_183933532	183874200	G G	GGAGGAAC others(14): Show GGAGGAACCTGGGGCGTAGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01256.hp1 others(14): Show HG00099.hp2 HG00621.hp1 HG01256.hp1 HG02015.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0016	a0001c0001t0002g0058 a0001c0001t0002g0173 a0001c0001t0002g0179 others(14): Show a0001c0001t0002g0058 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0002t0002g0142 a0001c0002t0003g0145 a0001c0002t0003g0276 a0001c0002t0003g0280 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0090 a0001c0002t0014g0247 a0001c0002t0016g0292	17	296	0.0574	21	c.426 others(38): Show c.426-6415_426-6395dupGAGGAACCTGGGGCGTAGGTT	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGL3_chr19_11389060_11424314	11405117	A A	AAAATCCC others(14): Show AAAATCCCTGGAGTCTGCACCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	402	0.0025	21	c.118 others(36): Show c.1185+29_1185+30insGGGTGCAGACTCCAGGGATTT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	9/18			chr19	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG03942.hp1 others(1): Show HG01069.hp1 HG01256.hp1 HG03942.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0142 a0001c0002t0089 a0001c0002t0099 others(1): Show a0001c0001t0142 a0001c0002t0089 a0001c0002t0099 a0001c0002t0197	a0001c0001t0142g0396 a0001c0002t0089g0020 a0001c0002t0099g0103 others(1): Show a0001c0001t0142g0396 a0001c0002t0089g0020 a0001c0002t0099g0103 a0001c0002t0197g0304	4	414	0.0097	21	c.64 others(32): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGPD2_chr2_87750960_87830796	87825512	G G	GGCCGAGG others(14): Show GGCCGAGGCCGCCGTCGCCGCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	176	0.0057	21	c.72+ others(34): Show c.72+145_72+146insGGCGGCGACGGCGGCCTCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106412293	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18993.hp1 NA19068.hp1 others(1): Show HG01496.hp2 NA18993.hp1 NA19068.hp1 NA19078.hp1	a0007 a0016 a0027 others(1): Show a0007 a0016 a0027 a0039	a0007c0013 a0016c0018 a0027c0028 others(1): Show a0007c0013 a0016c0018 a0027c0028 a0039c0039	a0007c0013t0069 a0016c0018t0001 a0027c0028t0001 others(1): Show a0007c0013t0069 a0016c0018t0001 a0027c0028t0001 a0039c0039t0003	a0007c0013t0069g0349 a0016c0018t0001g0316 a0027c0028t0001g0313 others(1): Show a0007c0013t0069g0349 a0016c0018t0001g0316 a0027c0028t0001g0313 a0039c0039t0003g0097	4	382	0.0105	21	c.526 others(38): Show c.5266+770_5266+790dupAAAAAAAAAAAAAAAAAAAAA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	22/22			chr2	TogoVar
RGPD8_chr2_112363369_112438645	112365489	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0005 a0007 a0005 a0007	a0005c0052 a0007c0008 a0005c0052 a0007c0008	a0005c0052t0002 a0007c0008t0002 a0005c0052t0002 a0007c0008t0002	a0005c0052t0002g0214 a0007c0008t0002g0212 a0005c0052t0002g0214 a0007c0008t0002g0212	2	254	0.0079	21	c.46 others(32): Show c.4688_*4689insAAAAAAAAAAAAAAAAAAAAA	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding		2879		chr2	TogoVar
RGS14_chr5_177352924_177377596	177369546	T T	TGATCAGG others(14): Show TGATCAGGGAGGAGGAAGAGTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	418	0.0024	21	c.105 others(38): Show c.1053+627_1053+647dupGATCAGGGAGGAGGAAGAGTG	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(14): Show GCGGGGCGGGGCGGGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	418	0.0024	21	c.125 others(36): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCCGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS16_chr1_182593623_182609389	182594345	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	442	0.0023	21	c.59 others(32): Show c.5946_*5947insCTTTCTTTCTTTCTTTCTTTC	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		4277		chr1	TogoVar
RGS22_chr8_99955936_100111049	100001236	A A	ATATACAT others(14): Show ATATACATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	310	0.0032	21	c.279 others(38): Show c.2790+965_2790+966insATGTATATATATATATGTATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	18/27			chr8	TogoVar
RGS4_chr1_163064361_163081802	163071855	G G	GCCCCCCC others(14): Show GCCCCCCCCACCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	450	0.0022	21	c.45- others(34): Show c.45-532_45-531insACCCCCCCCCCCCCCCCCCCC	RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03486.hp2 others(3): Show HG02896.hp2 HG02897.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0018 a0001c0001t0043	a0001c0001t0002g0034 a0001c0001t0002g0260 a0001c0001t0009g0031 others(3): Show a0001c0001t0002g0034 a0001c0001t0002g0260 a0001c0001t0009g0031 a0001c0001t0009g0042 a0001c0001t0018g0033 a0001c0001t0043g0030	6	322	0.0186	21	c.45- others(38): Show c.45-12339_45-12319dupAAAAAAAAAAAAAAAAAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72005467	A A	AATCTATC others(14): Show AATCTATCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp2 HG01192.hp1 others(9): Show HG00558.hp2 HG01071.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01981.hp1 HG01981.hp2 HG02523.hp2 HG03486.hp1 HG03704.hp1 HG04184.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0072 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0072 a0001c0001t0003g0018 a0001c0001t0003g0129 a0001c0001t0008g0073 a0001c0001t0011g0017 a0001c0001t0017g0122 a0001c0001t0026g0021 a0001c0002t0001g0020 a0001c0002t0002g0015 a0001c0002t0003g0019	12	130	0.0923	21	c.84+ others(38): Show c.84+40592_84+40593insATCTATCTATCTATCTATCTG	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17			chr14	TogoVar
RGS6_chr14_71927429_72571530	72036199	C C	CGTAGTCT others(14): Show CGTAGTCTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0088 a0001c0001t0008g0112 a0001c0001t0005g0088 a0001c0001t0008g0112	2	130	0.0154	21	c.84+ others(38): Show c.84+71324_84+71325insGTAGTCTTATTATTATTATTA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17			chr14	TogoVar
RGS6_chr14_71927429_72571530	72259910	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0026 a0001c0001t0025g0026	1	130	0.0077	21	c.85- others(38): Show c.85-92184_85-92164dupAAAAAAAAAAAAAAAAAAAAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72399165	C C	CATTATTA others(14): Show CATTATTATTGTGTGGGAGTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00639.hp2 others(41): Show HG00423.hp1 HG00558.hp1 HG00639.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01261.hp2 HG01981.hp2 HG02040.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18961.hp1 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0040 a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 a0001c0003t0022 a0001c0004t0008 a0001c0006t0029	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 others(41): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0002g0012 a0001c0001t0003g0085 a0001c0001t0004g0089 a0001c0001t0005g0001 a0001c0001t0005g0088 a0001c0001t0005g0108 a0001c0001t0006g0078 a0001c0001t0008g0073 a0001c0001t0010g0007 a0001c0001t0010g0075 a0001c0001t0011g0017 a0001c0001t0012g0123 a0001c0001t0013g0006 a0001c0001t0014g0057 a0001c0001t0017g0122 a0001c0001t0019g0058 a0001c0001t0020g0051 a0001c0001t0020g0120 a0001c0001t0021g0079 a0001c0001t0022g0080 a0001c0001t0025g0026 a0001c0001t0031g0027 a0001c0001t0033g0061 a0001c0001t0035g0127 a0001c0001t0040g0092 a0001c0002t0001g0020 a0001c0002t0001g0041 a0001c0002t0001g0104 a0001c0002t0015g0081 a0001c0002t0015g0130 a0001c0003t0001g0031 a0001c0003t0001g0109 a0001c0003t0022g0050 a0001c0004t0008g0047 a0001c0006t0029g0111	44	130	0.3385	21	c.184 others(40): Show c.184+46972_184+46973insTTATTATTGTGTGGGAGTCTA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72506984	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0013 a0001c0001t0030g0013	1	130	0.0077	21	c.966 others(38): Show c.966-3155_966-3135dupAAAAAAAAAAAAAAAAAAAAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	112	0.0089	21	c.6+ others(36): Show c.6+7029_*6+7030insAAATATATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	112	0.0089	21	c.6+ others(36): Show c.6+7029_*6+7030insAAAAATATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	112	0.0089	21	c.6+ others(36): Show c.6+7029_*6+7030insAAAAAAAAAAAAAAATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240842199	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01981.hp2 HG02129.hp2 others(5): Show HG01515.hp1 HG01981.hp2 HG02129.hp2 HG03017.hp1 HG03579.hp2 NA19000.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0069 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0002g0037 a0001c0001t0005g0093	8	112	0.0714	21	c.610 others(40): Show c.610-15028_610-15027insAAAAAAAAAAAAAAAAAAAAA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240934876	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG01243.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0045 a0001c0001t0001g0054	2	112	0.0179	21	c.333 others(38): Show c.333+1703_333+1723dupAAAAAAAAAAAAAAAAAAAAA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	5/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241227746	T T	TTACTCCT others(14): Show TTACTCCTAGGTAACACAGCAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp2 HG01891.hp1 others(12): Show HG00642.hp1 HG01515.hp2 HG01891.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp2 HG02723.hp2 HG02897.hp2 HG03239.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp2 NA19000.hp1 NA19000.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0069 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0002g0088 a0001c0001t0003g0001 a0001c0001t0010g0112	15	112	0.1339	21	c.78+ others(40): Show c.78+127952_78+127953insTTGCTGTGTTACCTAGGAGTA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	112	0.0089	21	c.78+ others(38): Show c.78+96031_78+96032insATATATTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDF1_chr16_53059_77631	68485	C C	CAGTGTCT others(14): Show CAGTGTCTCCCCCACCCCGCTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0176 a0001c0001t0009g0176	1	398	0.0025	21	c.-24 others(38): Show c.-24-3467_-24-3447dupCAGCGGGGTGGGGGAGACACT	RHBDF1	ENSG00000007384.15	transcript	ENST00000262316.10	protein_coding	1/17			chr16	TogoVar

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Search Results (Total: 10000 hits)