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
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01358.hp2 HG01515.hp2 others(10): Show HG00438.hp2 HG01358.hp2 HG01515.hp2 HG03139.hp2 HG03225.hp2 HG04228.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA19000.hp1 NA19070.hp2 NA19074.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0004c0009t0007 a0001c0001t0002 a0001c0001t0003 a0004c0009t0007	a0001c0001t0002g0067 a0001c0001t0003g0009 a0001c0001t0003g0032 others(4): Show a0001c0001t0002g0067 a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0075 a0004c0009t0007g0071	13	456	0.0285	22	c.-27 others(33): Show c.-2792_-2791insACACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPF2_chr6_110977038_111033263	110994727	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	360	0.0028	22	c.235 others(39): Show c.235-2448_235-2447insTATATATATATATATATATATA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0323 a0002c0002t0009g0323	1	360	0.0028	22	c.235 others(39): Show c.235-2448_235-2447insTATATATATATATATATATACA	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0342 a0005c0006t0001g0342	1	364	0.0028	22	c.361 others(41): Show c.3616+1930_3616+1951dupTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21304389	G G	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	332	0.0030	22	c.800 others(37): Show c.800+849_800+850insGAAAGAAAGAAAGAAAGAAAGA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01074.hp1 others(12): Show HG00099.hp2 HG00323.hp2 HG01074.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01515.hp1 HG01517.hp1 HG02040.hp1 HG02083.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp1 HG03516.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0009 a0012	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0004c0006 a0005c0007 a0006c0008 a0009c0011 a0012c0019	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0003t0001 a0004c0006t0002 a0005c0007t0004 a0006c0008t0003 a0009c0011t0002 a0012c0019t0006	a0001c0001t0002g0209 a0001c0001t0004g0191 a0001c0001t0004g0192 others(9): Show a0001c0001t0002g0209 a0001c0001t0004g0191 a0001c0001t0004g0192 a0002c0002t0001g0009 a0002c0003t0001g0032 a0002c0003t0001g0034 a0002c0003t0001g0162 a0004c0006t0002g0182 a0005c0007t0004g0037 a0006c0008t0003g0007 a0009c0011t0002g0013 a0012c0019t0006g0132	15	302	0.0497	22	c.-51 others(33): Show c.-5138_-5137insTATATATATATATATATATATA	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding		4996		chrX	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02559.hp1 others(6): Show HG01081.hp1 HG01891.hp1 HG02559.hp1 HG03453.hp1 HG03579.hp1 HG04228.hp2 NA18944.hp1 NA18959.hp2 NA18966.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0009 a0001c0001 a0001c0002 a0010c0009	a0001c0001t0024 a0001c0001t0102 a0001c0001t0103 others(5): Show a0001c0001t0024 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0002t0025 a0001c0002t0105 a0010c0009t0024	a0001c0001t0024g0218 a0001c0001t0102g0219 a0001c0001t0103g0205 others(6): Show a0001c0001t0024g0218 a0001c0001t0102g0219 a0001c0001t0103g0205 a0001c0001t0104g0164 a0001c0001t0106g0055 a0001c0002t0025g0001 a0001c0002t0025g0114 a0001c0002t0105g0075 a0010c0009t0024g0050	9	266	0.0338	22	c.-26 others(31): Show c.-268_-247dupGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01943.hp1 NA18978.hp2 others(1): Show HG01109.hp2 HG01943.hp1 NA18978.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0001t0145 a0001c0003t0054 others(1): Show a0001c0001t0017 a0001c0001t0145 a0001c0003t0054 a0001c0003t0055	a0001c0001t0017g0230 a0001c0001t0145g0027 a0001c0003t0054g0043 others(1): Show a0001c0001t0017g0230 a0001c0001t0145g0027 a0001c0003t0054g0043 a0001c0003t0055g0211	4	266	0.0150	22	c.83+ others(37): Show c.83+4692_83+4693insAAAAAAAAAAAAAAAAAAAAAA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	276	0.0036	22	c.-17 others(33): Show c.-1706_-1705insTATATATATATATATATATTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01891.hp1 others(11): Show HG00639.hp2 HG00673.hp2 HG01891.hp1 HG02273.hp1 HG02818.hp1 HG02886.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 NA18968.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0008t0002g0030	14	338	0.0414	22	c.20 others(33): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL21_chr13_27246558_27261568	27256929	G G	GGCTGTCA others(15): Show GGCTGTCAAGAGGCTATCTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	22	c.40 others(31): Show c.404_*405insGCTGTCAAGAGGCTATCTGCGC	RPL21	ENSG00000122026.11	transcript	ENST00000311549.11	protein_coding		362		chr13	TogoVar
RPL22_chr1_6180020_6204595	6187550	G G	GCTGCAGT others(15): Show GCTGCAGTGAGCCGAGATGGCGC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0123 a0003c0002t0001g0123	1	372	0.0027	22	c.243 others(37): Show c.243-756_243-735dupGCGCCATCTCGGCTCACTGCAG	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	3/3			chr1	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03486.hp1 HG02257.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	2	418	0.0048	22	c.50 others(33): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19002.hp1 HG02071.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0170 a0001c0001t0001g0101 a0001c0001t0001g0170	2	444	0.0045	22	c.192 others(39): Show c.192+1020_192+1041dupTTTTTTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01891.hp2 NA18973.hp1 HG01081.hp1 HG01891.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	422	0.0071	22	c.26 others(33): Show c.2605_*2626dupTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	22	c.-90 others(31): Show c.-900_-899insACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL27_chr17_42993419_43007959	43007847	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02886.hp1 others(3): Show HG02109.hp2 HG02451.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0002g0012 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0002g0012	6	356	0.0169	22	c.49 others(33): Show c.4927_*4928insTATATATATATATATATATATA	RPL27	ENSG00000131469.15	transcript	ENST00000253788.12	protein_coding		4889		chr17	TogoVar
RPL27_chr17_42993419_43007959	43007847	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02735.hp1 NA18946.hp2 others(1): Show HG02258.hp1 HG02735.hp1 NA18946.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0044	4	356	0.0112	22	c.49 others(33): Show c.4927_*4928insTTTATATATATATATATATATA	RPL27	ENSG00000131469.15	transcript	ENST00000253788.12	protein_coding		4889		chr17	TogoVar
RPL28_chr19_55380932_55397085	55391848	G G	GTTTCCCA others(15): Show GTTTCCCAAGCACCTGGAAGACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0001 a0001c0001t0039g0001	1	314	0.0032	22	c.35 others(33): Show c.3518_*3539dupTTCCCAAGCACCTGGAAGACAT	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding	5/5	3540	INFO_REALIGN_3_PRIME	chr19	TogoVar
RPL30_chr8_98036721_98050545	98037382	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03540.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0012 a0001c0001t0001g0035	2	448	0.0045	22	c.44 others(33): Show c.4418_*4419insTATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4338		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG01515.hp1 others(2): Show HG00099.hp2 HG01261.hp1 HG01515.hp1 HG02165.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	448	0.0112	22	c.43 others(33): Show c.4387_*4408dupTATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL36_chr19_5685295_5696875	5694638	C C	CGGGCGCG others(15): Show CGGGCGCGGGGTGGTGGGGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01070.hp1 others(9): Show HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01433.hp1 HG02602.hp2 HG03486.hp1 HG03704.hp1 HG04184.hp1 HG04228.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0005g0001	12	394	0.0305	22	c.30 others(33): Show c.3017_*3018insGGGCGCGGGGTGGTGGGGTGAT	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		2764		chr19	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0070 a0001c0002t0007g0070	1	446	0.0022	22	c.-45 others(33): Show c.-4522_-4521insAGAGAGAGAGAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL39L_chr3_187115948_187144496	187134483	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG03130.hp2 others(1): Show HG00735.hp2 HG02145.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0063 a0001c0001t0003g0022 a0001c0001t0003g0063	4	400	0.0100	22	c.-93 others(39): Show c.-93+4729_-93+4730insTTTTTTTTTTTTTTTTTTTTTT	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2			chr3	TogoVar
RPL39L_chr3_187115948_187144496	187134483	T T	TAAAAAAA others(15): Show TAAAAAAAAGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	400	0.0025	22	c.-93 others(39): Show c.-93+4729_-93+4730insTTTTTTTTTTTTTCTTTTTTTT	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2			chr3	TogoVar
RPL39L_chr3_187115948_187144496	187134496	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	400	0.0025	22	c.-93 others(39): Show c.-93+4716_-93+4717insCTTTTTTTTTTTTTTTTTTTTT	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2			chr3	TogoVar
RPP25_chr15_74949418_74961772	74950068	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	22	c.59 others(33): Show c.5915_*5916insAAAAAAAAAAAAAAAAAAAAAA	RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding		4349		chr15	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01175.hp1 others(2): Show HG00280.hp1 HG00609.hp2 HG01175.hp1 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0019 a0001c0004t0002 a0001c0001t0002 a0001c0001t0019 a0001c0004t0002	a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0019g0065 others(2): Show a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0019g0065 a0001c0004t0002g0311 a0001c0004t0002g0312	5	318	0.0157	22	c.790 others(41): Show c.790-15272_790-15271insTATATATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03516.hp1 HG03041.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0092 a0001c0001t0003g0095	2	318	0.0063	22	c.790 others(41): Show c.790-15276_790-15275insTATATATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0259 a0001c0001t0015g0085 a0001c0001t0014g0259 a0001c0001t0015g0085	2	318	0.0063	22	c.790 others(41): Show c.790-15278_790-15277insTATATATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0293 a0001c0001t0010g0206 a0001c0001t0001g0293 a0001c0001t0010g0206	2	318	0.0063	22	c.790 others(41): Show c.790-15278_790-15277insTATATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA20129.hp1 HG00738.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0241 a0001c0001t0001g0181 a0001c0001t0001g0241	2	318	0.0063	22	c.790 others(41): Show c.790-15278_790-15277insTATATATATATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1B_chr20_38028746_38097364	38030528	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0330 a0001c0002t0005g0330	1	384	0.0026	22	c.-34 others(33): Show c.-3420_-3419insACACACACACACACACACACAC	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding		3217		chr20	TogoVar
RPRD1B_chr20_38028746_38097364	38039407	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0329 a0001c0002t0005g0329	1	384	0.0026	22	c.152 others(39): Show c.152-1014_152-1013insTTTTTTTTTTTTTTTTTTTTTT	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPRD2_chr1_150359147_150481566	150395365	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0186	1	318	0.0031	22	c.206 others(41): Show c.206-22217_206-22196dupGTGTGTGTGTGTGTGTGTGTGT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02723.hp1 HG03471.hp1 others(2): Show HG02071.hp2 HG02723.hp1 HG03471.hp1 HG04199.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0049 a0001c0001t0001 a0001c0001t0049	a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0049g0099	5	318	0.0157	22	c.336 others(39): Show c.336-9447_336-9426dupTTTTTTTTTTTTTTTTTTTTTT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRML_chr17_46973156_46984253	46980666	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA19057.hp2 HG03927.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	452	0.0044	22	c.-16 others(33): Show c.-1660_-1659insTTTTTTTTTTTTTTTTTTTTTT	RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding		1414		chr17	TogoVar
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	390	0.0026	22	c.322 others(37): Show c.322+507_322+528dupTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5			chr6	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG02818.hp1 others(1): Show HG00280.hp1 HG00738.hp2 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0002g0032 a0001c0001t0002g0063 a0001c0001t0002g0077	4	390	0.0103	22	c.-10 others(33): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01891.hp2 others(13): Show HG00639.hp1 HG00673.hp1 HG01891.hp2 HG02273.hp2 HG02818.hp2 HG02886.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18943.hp2 NA18954.hp1 NA18994.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023	16	352	0.0455	22	c.-26 others(33): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS17_chr15_82531750_82545457	82535087	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	455	0.0022	22	c.17 others(33): Show c.1713_*1714insTATATATATATATATATATATA	RPS17	ENSG00000182774.13	transcript	ENST00000647841.1	protein_coding		1662		chr15	TogoVar
RPS24_chr10_78028863_78045697	78030446	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18965.hp1 HG02717.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0001 a0001c0001t0001g0068	2	430	0.0047	22	c.-34 others(33): Show c.-3456_-3455insTATATATATATATATATATATA	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		3416		chr10	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0018 a0001c0038t0018	a0001c0038t0018g0002 a0001c0038t0018g0002	1	244	0.0041	22	c.907 others(39): Show c.907+8332_907+8353dupTATATATATATATATATATATA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480514	T T	TATATATA others(15): Show TATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0013 a0001c0044t0013	a0001c0044t0013g0019 a0001c0044t0013g0019	1	244	0.0041	22	c.907 others(39): Show c.907+8318_907+8319insTTTTATATATATATATATATAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480514	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0240 a0001c0007t0006g0240	1	244	0.0041	22	c.907 others(39): Show c.907+8318_907+8319insTTATATATATATATATATATAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166510554	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0109 a0001c0009t0001g0109	1	244	0.0041	22	c.299 others(37): Show c.299-219_299-198dupATATATATATATATATATATAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166517450	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0232 a0001c0008t0001g0232	1	244	0.0041	22	c.299 others(39): Show c.299-7094_299-7093insAAAAAAAAAAAAAAAAAAAAAA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01256.hp1 others(17): Show HG00597.hp1 HG00673.hp1 HG01256.hp1 HG01346.hp2 HG01928.hp1 HG02056.hp1 HG03942.hp1 HG04199.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18953.hp1 NA18963.hp2 NA18992.hp1 NA19000.hp1 NA19062.hp1 NA19065.hp2 NA19078.hp1 NA19081.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0022 others(4): Show a0002c0002t0003 a0002c0002t0009 a0002c0002t0022 a0002c0002t0032 a0002c0002t0044 a0002c0002t0046 a0002c0002t0047	a0002c0002t0003g0003 a0002c0002t0003g0053 a0002c0002t0003g0054 others(16): Show a0002c0002t0003g0003 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 a0002c0002t0009g0067 a0002c0002t0022g0023 a0002c0002t0032g0012 a0002c0002t0044g0041 a0002c0002t0046g0048 a0002c0002t0047g0050	20	272	0.0735	22	c.501 others(39): Show c.501+4719_501+4720insATATATATATATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KB2_chr11_67423494_67440401	67424861	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18998.hp2 HG00438.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0002 a0002c0002t0002g0005	2	378	0.0053	22	c.-36 others(33): Show c.-3685_-3684insCACACACACACACACACACACA	RPS6KB2	ENSG00000175634.15	transcript	ENST00000312629.10	protein_coding		3632		chr11	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 NA19007.hp2 HG02258.hp2 HG02572.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0041 a0001c0001t0001g0218 a0001c0001t0003g0317 a0001c0001t0001g0041 a0001c0001t0001g0218 a0001c0001t0003g0317	3	330	0.0091	22	c.472 others(37): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results