Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RASIP1_chr19_48715585_48745610	48736811	GATCACTT others(29): Show GATCACTTGAGGTCAGGAATTCGAGACCAGCCTGACC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	362	0.0028	-36	c.824 others(53): Show c.824-1296_824-1261delGGTCAGGCTGGTCTCGAATTCCTGACCT CAAGTGAT	RASIP1	ENSG00000105538.10	transcript	ENST00000222145.9	protein_coding	3/11			chr19	TogoVar
RASSF5_chr1_206502531_206594448	206591211	GGGGAAGA others(29): Show GGGGAAGAATCACTGTCCTATAGAAACCCACGTCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0217 a0001c0002t0004g0217	1	344	0.0029	-36	c.42 others(47): Show c.4234_*4269delGGGAAGAATCACTGTCCTATAGAAACCCACGTCC TA	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding		1764		chr1	TogoVar
RB1CC1_chr8_52617458_52719435	52698666	GTTGGTTT others(29): Show GTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	304	0.0033	-36	c.-16 others(57): Show c.-166-11735_-166-11700delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACCAA	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(29): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18972.hp2 NA18968.hp1 NA18972.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0002 a0004c0007t0002 a0002c0001t0002 a0004c0007t0002	a0002c0001t0002g0235 a0004c0007t0002g0041 a0002c0001t0002g0235 a0004c0007t0002g0041	2	5	0.4000	-36	c.-16 others(57): Show c.-166-11738_-166-11703delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RBBP5_chr1_205081142_205126978	205093513	TATATATA others(29): Show TATATATATATATATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	373	0.0027	-36	c.158 others(55): Show c.1588+1324_1588+1359delGTGTGTGTGTGTGTGTATATATATAT ATATATATAT	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13			chr1	TogoVar
RBFOX1_chr16_6014024_7718340	6487686	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0030 a0001c0001t0010g0037 a0001c0001t0001g0030 a0001c0001t0010g0037	2	68	0.0294	-36	c.-63 others(57): Show c.-63-166915_-63-166880delAAAAAAAAAAAAAATATATATATA TATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008808	TCCTCCCT others(29): Show TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	58	0.0172	-36	c.-15 others(55): Show c.-15-43217_-15-43182delCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229742	AGAAGGAA others(29): Show AGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG02559.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0050 a0001c0001t0006g0038 a0001c0001t0003g0050 a0001c0001t0006g0038	2	58	0.0345	-36	c.27+ others(55): Show c.27+177718_27+177753delAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229870	AAGGAAGG others(29): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0019 a0001c0001t0039g0019	1	38	0.0263	-36	c.27+ others(55): Show c.27+177887_27+177922delGGAGAGAGAGGGAGGAAGGGAGAGAG AGGGAGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7230001	AGGGAGAG others(29): Show AGGGAGAGAGAGGGAGGAAGAGGGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	68	0.0147	-36	c.27+ others(55): Show c.27+177905_27+177940delGGAGAGAGAGGGAGGAAGAGGGGAAG GAAGGAAGGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79293410	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	30	0.0333	-36	c.-74 others(55): Show c.-74+14278_-74+14313delAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RBM17_chr10_6084034_6122447	6085743	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	380	0.0026	-36	c.-34 others(47): Show c.-3468_-3433delGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGA AG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3290		chr10	TogoVar
RBM17_chr10_6084034_6122447	6085751	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	423	0.0024	-36	c.-34 others(47): Show c.-3460_-3425delGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGA AG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3282		chr10	TogoVar
RBM26_chr13_79313868_79411255	79373705	ATATATAT others(29): Show ATATATATATTACTATATATAATAATATATAATATTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0299 a0001c0002t0026g0299	1	326	0.0031	-36	c.328 others(53): Show c.328-1811_328-1776delAAATATTATATATTATTATATATAGTAA TATATATA	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM26_chr13_79313868_79411255	79392113	AATTATAT others(29): Show AATTATATAATTATATATTATACAATAATACATAATT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp1 others(36): Show HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01243.hp1 HG01515.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0018 a0001c0002t0023 a0001c0003t0014 a0001c0009t0003	a0001c0001t0004g0138 a0001c0001t0005g0031 a0001c0002t0001g0016 others(31): Show a0001c0001t0004g0138 a0001c0001t0005g0031 a0001c0002t0001g0016 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0308 a0001c0002t0003g0001 a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0293 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0302 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0008g0015 a0001c0002t0008g0186 a0001c0002t0008g0294 a0001c0002t0008g0301 a0001c0002t0008g0303 a0001c0002t0018g0014 a0001c0002t0023g0185 a0001c0003t0014g0279 a0001c0009t0003g0193	39	56	0.6964	-36	c.72- others(53): Show c.72-13242_72-13207delAATTATGTATTATTGTATAATATATAAT TATATAAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM26_chr13_79313868_79411255	79392113	AATTATAT others(29): Show AATTATATAATTATATATTATACAATAATACATAATT	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18906.hp1 NA19043.hp2 HG00733.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0200 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0200 a0001c0002t0003g0246 a0001c0002t0003g0248	3	20	0.1500	-36	c.72- others(53): Show c.72-13241_72-13206delATTATGTATTATTGTATAATATATAATT ATATAATT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM33_chr7_155639661_155786480	155673559	TACACACA others(29): Show TACACACATATACATACACACGTGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 NA20129.hp1 HG02630.hp2 HG02717.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0102 a0001c0002t0023 a0001c0002t0102	a0001c0002t0023g0157 a0001c0002t0023g0159 a0001c0002t0102g0154 a0001c0002t0023g0157 a0001c0002t0023g0159 a0001c0002t0102g0154	3	302	0.0099	-36	c.171 others(51): Show c.171+650_171+685delCATATACATACACACGTGTATATATATATA CACACA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03195.hp2 others(2): Show HG02922.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0051 a0001c0001t0080 others(2): Show a0001c0001t0032 a0001c0001t0051 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083	a0001c0001t0032g0115 a0001c0001t0051g0083 a0001c0001t0080g0031 others(2): Show a0001c0001t0032g0115 a0001c0001t0051g0083 a0001c0001t0080g0031 a0001c0001t0082g0030 a0001c0001t0083g0017	5	28	0.1786	-36	c.638 others(55): Show c.638-48651_638-48616delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJ_chr4_26316014_26439923	26384909	TCTCCCCT others(29): Show TCTCCCCTCTCCCCTCCCCTCTCTCTTCCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	314	0.0032	-36	c.21- others(51): Show c.21-1421_21-1386delTCTTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTC	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
RCOR1_chr14_102587649_102735561	102639497	TTTTATTT others(29): Show TTTTATTTATTTATTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	115	0.0087	-36	c.362 others(55): Show c.362-42379_362-42344delTATTTATTTATTTATTTATTTATTTA TTTATTTATT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCSD1_chr1_167625232_167713696	167701252	GTTTCTTT others(29): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0332 a0001c0001t0005g0332	1	101	0.0099	-36	c.121 others(55): Show c.1219-3380_1219-3345delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RELN_chr7_103466789_103994658	103773100	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20129.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0024 a0001c0066 a0001c0024 a0001c0066	a0001c0024t0001 a0001c0066t0007 a0001c0024t0001 a0001c0066t0007	a0001c0024t0001g0110 a0001c0066t0007g0123 a0001c0024t0001g0110 a0001c0066t0007g0123	2	31	0.0645	-36	c.544 others(53): Show c.544+3421_544+3456delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103971849	GATCATTT others(29): Show GATCATTTGAGGTCAAGAGTTCAAGACCAGCCTGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01071.hp1 others(20): Show HG00408.hp2 HG00558.hp1 HG01071.hp1 HG01081.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG02132.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02970.hp1 HG03041.hp2 HG03540.hp2 NA18952.hp1 NA18979.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA19012.hp1 NA19060.hp2 NA19085.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0024	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0019 a0001c0038 a0001c0046 a0002c0015 a0003c0028 a0004c0062 a0007c0012 a0008c0044 a0010c0032 a0024c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0008 a0001c0011t0002 a0001c0019t0002 a0001c0038t0001 a0001c0046t0002 a0002c0015t0002 a0003c0028t0001 a0004c0062t0002 a0007c0012t0002 a0008c0044t0008 a0010c0032t0001 a0024c0035t0006	a0001c0001t0001g0091 a0001c0001t0002g0011 a0001c0001t0002g0031 others(20): Show a0001c0001t0001g0091 a0001c0001t0002g0011 a0001c0001t0002g0031 a0001c0001t0013g0164 a0001c0002t0001g0094 a0001c0002t0002g0016 a0001c0003t0001g0093 a0001c0003t0002g0013 a0001c0004t0001g0090 a0001c0004t0001g0092 a0001c0005t0002g0008 a0001c0008t0008g0001 a0001c0011t0002g0015 a0001c0019t0002g0012 a0001c0038t0001g0075 a0001c0046t0002g0024 a0002c0015t0002g0014 a0003c0028t0001g0095 a0004c0062t0002g0004 a0007c0012t0002g0007 a0008c0044t0008g0002 a0010c0032t0001g0089 a0024c0035t0006g0107	23	182	0.1264	-36	c.226 others(55): Show c.226+17246_226+17281delTGTCAGGCTGGTCTTGAACTCTTGAC CTCAAATGAT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RETNLB_chr3_108750638_108762410	108759563	ATACATAT others(29): Show ATACATATGTATGTATGTGTATACATACATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02717.hp2 HG02886.hp2 others(2): Show HG00280.hp1 HG02717.hp2 HG02886.hp2 HG03130.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	5	443	0.0113	-36	c.-24 others(47): Show c.-2414_-2379delCATACATATGTATGTATACACATACATACATATG TA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2154		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759587	ATACATAT others(29): Show ATACATATGTATGTATGTGTATACATACATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	450	0.0022	-36	c.-24 others(47): Show c.-2438_-2403delCATACATATGTATGTATACACATACATACATATG TA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2178		chr3	TogoVar
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02129.hp2 HG03209.hp1 others(2): Show HG02074.hp2 HG02129.hp2 HG03209.hp1 NA19011.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0170 others(2): Show a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0170 a0002c0002t0001g0190 a0002c0002t0010g0285	5	148	0.0338	-36	c.925 others(55): Show c.9253-3551_9253-3516delAAAAAAGTCATAGTCTGTTAAAAAAA AAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111422564	TTATATAT others(29): Show TTATATATATATACACATATATATATATATACACATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp1 HG03471.hp1 others(1): Show HG02145.hp2 HG03225.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0040 a0001c0006t0002g0041 others(1): Show a0001c0006t0002g0038 a0001c0006t0002g0040 a0001c0006t0002g0041 a0001c0006t0002g0120	4	286	0.0140	-36	c.140 others(53): Show c.140-6128_140-6093delTATGTGTATATATATATATATGTGTATA TATATATA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFLNA_chr12_124290093_124321024	124300741	TGGATGGA others(29): Show TGGATGGATGGATGGATGGATGGATGGATGGATTGAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	386	0.0026	-36	c.207 others(53): Show c.207+5138_207+5173delTGACGGATGGATGGATGGATGGATGGAT GGATGGAT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16345808	GTGTGTGT others(29): Show GTGTGTGTGTGCGCGCGCGCGTGCGCGCACGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 HG06807.hp1 HG03098.hp1 HG03540.hp2 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0118 a0001c0001t0001g0225 a0007c0008t0001g0026 a0001c0001t0001g0118 a0001c0001t0001g0225 a0007c0008t0001g0026	3	266	0.0113	-36	c.114 others(57): Show c.1146+12088_1146+12123delTGTGCGCGTGCGCGCACGCGCGCG CGCACACACACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197564755	GGTTTTTG others(29): Show GGTTTTTGTTCTGTTTATGTGATGGATTACGTTTATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0266 a0001c0002t0002g0266	1	310	0.0032	-36	c.72 others(47): Show c.7217_*7252delAATAAACGTAATCCATCACATAAACAGAACAAAA AC	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding		3468		chr2	TogoVar
RFWD3_chr16_74616399_74671877	74665203	CTGAAATG others(29): Show CTGAAATGCCCAGGCGGATGGATCACTTACGCTCTGG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0222 a0001c0002t0002g0222	1	410	0.0024	-36	c.-3+ others(51): Show c.-3+1547_-3+1582delCCAGAGCGTAAGTGATCCATCCGCCTGGGC ATTTCA	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/12			chr16	TogoVar
RFX3_chr9_3213297_3531001	3415082	TCTTATAT others(29): Show TCTTATATATATACTCATATATAAGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp1 HG02486.hp2 others(11): Show HG00741.hp1 HG02451.hp1 HG02486.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03654.hp1 HG03942.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 others(5): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0070 a0001c0001t0071	a0001c0001t0004g0007 a0001c0001t0004g0019 a0001c0001t0004g0048 others(11): Show a0001c0001t0004g0007 a0001c0001t0004g0019 a0001c0001t0004g0048 a0001c0001t0008g0049 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0016g0054 a0001c0001t0017g0037 a0001c0001t0017g0038 a0001c0001t0023g0014 a0001c0001t0023g0050 a0001c0001t0024g0145 a0001c0001t0070g0190 a0001c0001t0071g0191	14	190	0.0737	-36	c.-8- others(53): Show c.-8-19522_-8-19487delTATATATATATACTTATATATGAGTATA TATATAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3427414	TATAATAA others(29): Show TATAATAATACAATATATAAATATATATTGTTATATA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	194	0.0052	-36	c.-8- others(53): Show c.-8-31854_-8-31819delTATATAACAATATATATTTATATATTGT ATTATTAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106598418	GTTACAGT others(29): Show GTTACAGTTCTCTTACGTGCACTTATAGATATGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	294	0.0034	-36	c.44- others(53): Show c.44-10376_44-10341delACAGTTCTCTTACGTGCACTTATAGATA TGAGACTT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RGCC_chr13_41452550_41475871	41466155	ACGCACAC others(29): Show ACGCACACACTCTCACACACTTTCTCACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp1 HG01891.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0088 a0001c0001t0001g0089	2	446	0.0045	-36	c.236 others(51): Show c.236-666_236-631delGCACACACTCTCACACACTTTCTCACACAC ACACTC	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGL3_chr19_11389060_11424314	11422429	TCCCAGGA others(29): Show TCCCAGGAGGGCCTGTCGGGGCTTCCCCTGGGCGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0348 a0002c0002t0001g0348	1	400	0.0025	-36	c.-31 others(47): Show c.-3187_-3152delCCCCGCCCAGGGGAAGCCCCGACAGGCCCTCCTG GG	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding		3116		chr19	TogoVar
RGN_chrX_47073443_47098313	47074224	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	295	0.0034	-36	c.-51 others(47): Show c.-5120_-5085delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4218		chrX	TogoVar
RGN_chrX_47073443_47098313	47074232	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0244 a0003c0003t0001g0244	1	298	0.0034	-36	c.-51 others(47): Show c.-5112_-5077delAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4210		chrX	TogoVar
RGN_chrX_47073443_47098313	47074236	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02976.hp1 HG01993.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0002 a0001c0001t0001g0052	2	282	0.0071	-36	c.-51 others(47): Show c.-5108_-5073delAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAA GG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4206		chrX	TogoVar
RGN_chrX_47073443_47098313	47074244	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01346.hp1 HG04184.hp1 others(1): Show HG00639.hp1 HG01346.hp1 HG04184.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0001g0273 a0001c0001t0004g0142 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0273 a0001c0001t0004g0142 a0001c0001t0004g0143	4	274	0.0146	-36	c.-51 others(47): Show c.-5100_-5065delAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA GG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4198		chrX	TogoVar
RGPD4_chr2_107821892_107897544	107851316	TTCCCAGG others(29): Show TTCCCAGGCTGGTTGGTCTTGAACTCCTGGCTTCAAG	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0229 a0005c0005t0004g0229	1	372	0.0027	-36	c.978 others(53): Show c.978+2782_978+2817delCCCAGGCTGGTTGGTCTTGAACTCCTGG CTTCAAGT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3440685	GCCCCCAG others(29): Show GCCCCCAGCACCCACCATGCCTCCACATTCACCGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	310	0.0032	-36	c.10 others(47): Show c.1002_*1037delCCCCCAGCACCCACCATGCCTCCACATTCACCGT GC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding		773		chr4	TogoVar
RGS17_chr6_152999459_153136282	153091769	TCCCAAAG others(29): Show TCCCAAAGTGCTAGGATTACAGGCAGGAGCCACCATG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0151 a0001c0001t0046g0151	1	336	0.0030	-36	c.-26 others(55): Show c.-26+39319_-26+39354delCATGGTGGCTCCTGCCTGTAATCCTA GCACTTTGGG	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS22_chr8_99955936_100111049	100051558	TATAAATA others(29): Show TATAAATATATATTTATATATGTTTATACATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18946.hp1 NA18953.hp1 others(4): Show NA18612.hp1 NA18946.hp1 NA18953.hp1 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0221 a0001c0001t0001g0225	7	185	0.0378	-36	c.168 others(55): Show c.1689+1208_1689+1243delTTATATATGTATAAACATATATAAAT ATATATTTAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS7_chr1_240770514_241362205	241327080	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0097 a0001c0001t0001g0098 a0001c0001t0002g0097	2	58	0.0345	-36	c.78+ others(53): Show c.78+28583_78+28618delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379475	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0283 a0003c0003t0001g0284	2	321	0.0062	-36	c.107 others(55): Show c.1074-4083_1074-4048delAAAAAAAAAAAAAAAATATATATATA TATATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHOB_chr2_20442074_20454440	20445974	TTCTATTG others(29): Show TTCTATTGTACAATAGTGTATATTCTATTGTACATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02109.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	2	366	0.0055	-36	c.-14 others(47): Show c.-1491_-1456delTCTATTGTACAATAGTGTATATTCTATTGTACAT TC	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		1099		chr2	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(29): Show CACACACACACCACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp2 HG02109.hp1 others(20): Show HG00673.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18977.hp2 NA18984.hp1 NA19011.hp1 NA19043.hp2 NA19058.hp2 NA19064.hp2 NA19080.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0003t0001g0047	23	247	0.0931	-36	c.-77 others(51): Show c.-77+588_-77+623delTGTGTGTGTGTGTGTGTGTGTGTGTGGTGT GTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706456	CACACACA others(29): Show CACACACACCACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-36	c.-77 others(51): Show c.-77+586_-77+621delTGTGTGTGTGTGTGTGTGTGTGTGTGTGGT GTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706460	CACACCAC others(29): Show CACACCACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	423	0.0024	-36	c.-77 others(51): Show c.-77+582_-77+617delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar

Search by Variant

Search

Search Results