Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ROCK2_chr2_11174759_11349636	11248708	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	320	0.0031	29	c.462 others(44): Show c.462+924_462+952dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(22): Show GAGAGAGAGAGGAGAGAGAGAGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA21309.hp2 HG01258.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0044 a0002c0002t0002 a0002c0002t0044	a0002c0002t0002g0024 a0002c0002t0044g0035 a0002c0002t0002g0024 a0002c0002t0044g0035	2	320	0.0063	29	c.142 others(46): Show c.142-8255_142-8254insTCCCCTCTCTCTCTCTCTCCTCTCTCTC T	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(22): Show GAGAGAGAGGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	320	0.0031	29	c.142 others(46): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCCTCTCTC T	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGGAGAG others(22): Show GAGGAGAGAGAGAGAGAGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0134 a0001c0001t0023g0134	1	320	0.0031	29	c.142 others(46): Show c.142-8255_142-8254insTCCCCCTCTCCCCTCTCTCTCTCTCTCC T	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGAGAGAG others(22): Show GGAGAGAGAGAGAGAGAGAGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0043 a0002c0002t0036g0043	1	320	0.0031	29	c.142 others(46): Show c.142-8270_142-8269insTCTCTCTCCCCTCTCTCTCTCTCTCTCT C	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGAGAGAG others(22): Show GGAGAGAGAGAGAGAGGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG02074.hp1 others(4): Show HG00597.hp2 HG00673.hp1 HG02074.hp1 NA18960.hp2 NA18971.hp2 NA18991.hp2 NA19011.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0004 a0005c0008 a0002c0002 a0002c0004 a0005c0008	a0002c0002t0002 a0002c0002t0003 a0002c0002t0034 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0034 a0002c0004t0002 a0005c0008t0002	a0002c0002t0002g0023 a0002c0002t0002g0077 a0002c0002t0003g0014 others(4): Show a0002c0002t0002g0023 a0002c0002t0002g0077 a0002c0002t0003g0014 a0002c0002t0003g0108 a0002c0002t0034g0085 a0002c0004t0002g0039 a0005c0008t0002g0083	7	320	0.0219	29	c.142 others(46): Show c.142-8270_142-8269insTCTCTCTCTCTCCCCTCTCTCTCTCTCT C	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(22): Show GGGGAGAGGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0176 a0001c0001t0056g0176	1	320	0.0031	29	c.142 others(46): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCCCCTCTCC C	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	320	0.0031	29	c.141 others(48): Show c.141+26383_141+26384insAAAAATATATATATATATATATATAT ATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0235 a0001c0001t0009g0235	1	320	0.0031	29	c.141 others(48): Show c.141+26383_141+26384insAAAAAAATATATATATATATATATAT ATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0256 a0001c0001t0009g0256	1	320	0.0031	29	c.141 others(48): Show c.141+26383_141+26384insAAAAAAAAATATATATATATATATAT ATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18993.hp1 NA18972.hp2 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0105 a0001c0002t0001g0106	2	416	0.0048	29	c.-12 others(46): Show c.-12-5526_-12-5525insATTTTTTTTTTTTTTTTTTTTTTTTTTT T	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar
ROR1_chr1_63769017_64186498	64083536	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01884.hp1 others(6): Show HG00099.hp2 HG01070.hp1 HG01884.hp1 HG01978.hp2 HG02145.hp2 HG02647.hp2 HG02735.hp1 HG02976.hp1 HG03130.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0009 others(1): Show a0001c0001 a0001c0003 a0002c0009 a0003c0012	a0001c0001t0001 a0001c0001t0017 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0002 a0002c0009t0001 a0003c0012t0001	a0001c0001t0001g0040 a0001c0001t0017g0012 a0001c0003t0002g0028 others(6): Show a0001c0001t0001g0040 a0001c0001t0017g0012 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0059 a0002c0009t0001g0080 a0003c0012t0001g0033	9	96	0.0938	29	c.482 others(48): Show c.482+32820_482+32821insGTGTGTGTGTGTGTGTGTGTGTGTGT GTC	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8			chr1	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0041 a0004c0040 a0002c0041 a0004c0040	a0002c0041t0001 a0004c0040t0002 a0002c0041t0001 a0004c0040t0002	a0002c0041t0001g0142 a0004c0040t0002g0141 a0002c0041t0001g0142 a0004c0040t0002g0141	2	226	0.0089	29	c.97+ others(46): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60611559	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0102 a0001c0001t0036g0102	1	118	0.0085	29	c.196 others(48): Show c.196+67069_196+67097dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPA3_chr7_7631518_7723607	7679414	A A	ATATATTT others(22): Show ATATATTTAATTTATAGATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0036 a0001c0001t0025g0036	1	308	0.0033	29	c.-75 others(48): Show c.-758+6387_-758+6415dupAATATATATTTATCTATAAATTAAAT ATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02080.hp1 HG03225.hp2 others(1): Show HG00642.hp2 HG02080.hp1 HG03225.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0041 others(1): Show a0001c0001 a0001c0007 a0001c0041 a0001c0042	a0001c0001t0002 a0001c0007t0051 a0001c0041t0004 others(1): Show a0001c0001t0002 a0001c0007t0051 a0001c0041t0004 a0001c0042t0058	a0001c0001t0002g0141 a0001c0007t0051g0099 a0001c0041t0004g0100 others(1): Show a0001c0001t0002g0141 a0001c0007t0051g0099 a0001c0041t0004g0100 a0001c0042t0058g0061	4	192	0.0208	29	c.399 others(46): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	315290	C C	CACCTCCA others(22): Show CACCTCCACTGACCTGTTGTCTCTGTGCTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	133	0.0075	29	c.351 others(46): Show c.351+4129_351+4130insTAGCACAGAGACAACAGGTCAGTGGAGG T	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340412	T T	TCCCCACA others(22): Show TCCCCACATCCACACTCACTGCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	29	c.-21 others(48): Show c.-212-6479_-212-6478insGGAGAGGGGCAGTGAGTGTGGATGTG GGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01258.hp2 HG06807.hp2 HG01258.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0058 a0001c0001t0057 a0001c0001t0058	a0001c0001t0057g0202 a0001c0001t0058g0014 a0001c0001t0057g0202 a0001c0001t0058g0014	2	266	0.0075	29	c.-28 others(38): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	338	0.0030	29	c.20 others(40): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	418	0.0024	29	c.50 others(40): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	444	0.0023	29	c.192 others(46): Show c.192+1013_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18969.hp1 NA19000.hp2 HG00323.hp2 NA18969.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0002g0021 a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0002g0021	3	422	0.0071	29	c.26 others(40): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037419	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	29	c.43 others(40): Show c.4381_*4382insTATATATATATATATATATATATATATAT	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4301		chr8	TogoVar
RPL30_chr8_98036721_98050545	98045709	T T	TCATACCT others(22): Show TCATACCTTTAATCCCAGCACTTTCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	29	c.-26 others(38): Show c.-263_-235dupCCTCCGAAAGTGCTGGGATTAAAGGTATG	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		165		chr8	TogoVar
RPL36_chr19_5685295_5696875	5691976	T T	TCAGTTCT others(22): Show TCAGTTCTGGCCCAGACAGGGCCTGACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp1 others(50): Show HG00099.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18941.hp1 NA18947.hp2 NA18960.hp1 NA18979.hp1 NA19009.hp2 NA19066.hp1 NA19074.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0003g0001	53	394	0.1345	29	c.35 others(38): Show c.355_*356insCAGTTCTGGCCCAGACAGGGCCTGACATC	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		102		chr19	TogoVar
RPL4_chr15_66493015_66509855	66507925	C C	CGAGACTG others(22): Show CGAGACTGCATCTCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	428	0.0023	29	c.-31 others(40): Show c.-3164_-3136dupTTTTTTTTTTTTTTTTGAGATGCAGTCTC	RPL4	ENSG00000174444.15	transcript	ENST00000307961.11	protein_coding		3071		chr15	TogoVar
RPN2_chr20_37174330_37246619	37179387	G G	GCTTACAG others(22): Show GCTTACAGACAGGGCCCCGCGGCCGGCACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(93): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02135.hp2 HG02257.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0001 a0004c0008t0001 a0001c0002t0001 a0004c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(63): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0004c0008t0001g0078 a0004c0008t0001g0089	96	346	0.2775	29	c.13+ others(40): Show c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT	RPN2	ENSG00000118705.18	transcript	ENST00000237530.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPN2_chr20_37174330_37246619	37179387	G G	GCTTATAG others(22): Show GCTTATAGACAGGGCCCCGCGGCCGGCACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(246): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006 a0005c0007 a0006c0005 a0007c0009 a0008c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0003c0006t0001 a0005c0007t0001 a0006c0005t0001 a0007c0009t0001 a0008c0010t0001 a0009c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(201): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0242 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0004t0001g0004 a0001c0004t0001g0166 a0001c0004t0001g0186 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0137 a0003c0006t0001g0026 a0005c0007t0001g0207 a0005c0007t0001g0208 a0006c0005t0001g0235 a0006c0005t0001g0236 a0007c0009t0001g0243 a0008c0010t0001g0124 a0009c0011t0001g0189	249	346	0.7197	29	c.13+ others(40): Show c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT	RPN2	ENSG00000118705.18	transcript	ENST00000237530.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	29	c.-26 others(40): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS12_chr6_132809569_132822564	132817984	T T	TTGGTTGG others(22): Show TTGGTTGGAGACGGAGTTTCACTCTTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG06807.hp1 NA18906.hp2 HG02145.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	392	0.0077	29	c.44 others(38): Show c.442_*443insTGGTTGGAGACGGAGTTTCACTCTTGTGA	RPS12	ENSG00000112306.8	transcript	ENST00000230050.4	protein_coding		421		chr6	TogoVar
RPS6KA1_chr1_26524761_26580025	26562825	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0278 a0001c0001t0009g0032 a0001c0001t0008g0278 a0001c0001t0009g0032	2	330	0.0061	29	c.159 others(48): Show c.1590+1189_1590+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0002 a0001c0048t0002	a0001c0048t0002g0098 a0001c0048t0002g0098	1	244	0.0041	29	c.907 others(46): Show c.907+8355_907+8356insTATATATATATATATATATATATATATA T	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166613743	A A	AGGGCTTT others(22): Show AGGGCTTTCCACGGCCTTCAGGACACAGTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02280.hp1 others(3): Show HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02965.hp1 HG03492.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0028 others(2): Show a0001c0003 a0001c0013 a0001c0028 a0001c0037 a0001c0039	a0001c0003t0001 a0001c0013t0010 a0001c0028t0001 others(2): Show a0001c0003t0001 a0001c0013t0010 a0001c0028t0001 a0001c0037t0006 a0001c0039t0003	a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0013t0010g0187 others(3): Show a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0013t0010g0187 a0001c0028t0001g0046 a0001c0037t0006g0048 a0001c0039t0003g0059	6	244	0.0246	29	c.99+ others(46): Show c.99+13149_99+13177dupGACTGTGTCCTGAAGGCCGTGGAAAGCC C	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166613743	A A	AGGGCTTT others(22): Show AGGGCTTTCCATGGCCTTCAGGACACAGTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0041 a0001c0015t0010g0041	1	244	0.0041	29	c.99+ others(46): Show c.99+13177_99+13178insGACTGTGTCCTGAAGGCCATGGAAAGCC C	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166613870	C C	CGGCCTTC others(22): Show CGGCCTTCAGGACACAGTCGGGCTTTCCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG01169.hp1 others(41): Show HG00609.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 NA18939.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18977.hp1 NA18983.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19056.hp2 NA19060.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0019 a0001c0020 a0001c0022 a0001c0026 a0001c0027 a0001c0043 a0001c0064 a0001c0065	a0001c0001t0001 a0001c0001t0003 a0001c0001t0035 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0035 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0004t0001 a0001c0004t0020 a0001c0005t0001 a0001c0007t0033 a0001c0008t0001 a0001c0009t0001 a0001c0011t0003 a0001c0011t0039 a0001c0014t0003 a0001c0014t0038 a0001c0019t0021 a0001c0020t0001 a0001c0022t0004 a0001c0022t0017 a0001c0026t0002 a0001c0027t0002 a0001c0043t0015 a0001c0064t0005 a0001c0065t0008	a0001c0001t0001g0070 a0001c0001t0001g0172 a0001c0001t0001g0204 others(41): Show a0001c0001t0001g0070 a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0035g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0165 a0001c0002t0002g0169 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0202 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0009g0173 a0001c0003t0001g0042 a0001c0004t0001g0205 a0001c0004t0020g0191 a0001c0004t0020g0236 a0001c0005t0001g0162 a0001c0005t0001g0170 a0001c0007t0033g0210 a0001c0008t0001g0171 a0001c0009t0001g0177 a0001c0011t0003g0208 a0001c0011t0039g0215 a0001c0014t0003g0213 a0001c0014t0038g0069 a0001c0019t0021g0072 a0001c0020t0001g0176 a0001c0022t0004g0071 a0001c0022t0017g0189 a0001c0026t0002g0206 a0001c0027t0002g0166 a0001c0027t0002g0203 a0001c0043t0015g0220 a0001c0064t0005g0188 a0001c0065t0008g0233	44	244	0.1803	29	c.99+ others(46): Show c.99+13022_99+13050dupATGGAAAGCCCGACTGTGTCCTGAAGGC C	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp2 HG01433.hp2 others(11): Show HG00609.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG03834.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18998.hp2 NA19054.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(11): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0008g0034	14	330	0.0424	29	c.472 others(44): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0253 a0002c0002t0019g0253	1	366	0.0027	29	c.-15 others(40): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761921	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCGCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA20752.hp1 HG00099.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0108 a0001c0001t0001 a0001c0001t0108	a0001c0001t0001g0006 a0001c0001t0108g0319 a0001c0001t0001g0006 a0001c0001t0108g0319	2	366	0.0055	29	c.-15 others(40): Show c.-1516_-1515insCTCTCTCTCTCTCTCTCGCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1082		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80659146	G G	GCCCATGA others(22): Show GCCCATGAGTGGTCCCCGAGAGATTGCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0139 a0001c0015t0008g0139	1	196	0.0051	29	c.348 others(48): Show c.348+15338_348+15366dupCCATGAGTGGTCCCCGAGAGATTGCC TCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTGTCCT others(22): Show CCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0085 a0001c0029t0085	a0001c0029t0085g0012 a0001c0029t0085g0012	1	196	0.0051	29	c.348 others(48): Show c.348+21714_348+21715insTGTCCTTTCCTTTCATGTCCTTTCCT TTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0066 a0001c0018t0009g0066	1	196	0.0051	29	c.349 others(48): Show c.349-22213_349-22212insATATATATATATATATATATATATTT TTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0058 a0001c0010t0009g0058	1	196	0.0051	29	c.349 others(48): Show c.349-22213_349-22212insATATATATATATATATATATATTTTT TTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80943745	C C	CCAGTCAG others(22): Show CCAGTCAGGTGAGGACACGGTTAGTAAGAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0002 a0001c0081t0002	a0001c0081t0002g0022 a0001c0081t0002g0022	1	196	0.0051	29	c.302 others(48): Show c.3026-1920_3026-1892dupAGTCAGGTGAGGACACGGTTAGTAAG AGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	25/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80943797	A A	AGTAAGAG others(22): Show AGTAAGAGCCAGTCAGGTGAGGACACGGTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0105 a0001c0002t0040g0105	1	196	0.0051	29	c.302 others(48): Show c.3026-1869_3026-1841dupGTAAGAGCCAGTCAGGTGAGGACACG GTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	25/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963809	C C	CCGTCCGC others(22): Show CCGTCCGCTGTGCGGCCGAGTCCTCACCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0016 a0001c0057t0077g0016	1	196	0.0051	29	c.394 others(46): Show c.3940-453_3940-452insCGTCCGCTGTGCGGCCGAGTCCTCACCC T	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33			chr17	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GTGTGTGT others(22): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA19084.hp2 NA19058.hp2 NA19084.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0032	a0002c0001t0032g0059 a0002c0001t0032g0109 a0002c0001t0032g0059 a0002c0001t0032g0109	2	388	0.0052	29	c.30 others(40): Show c.3059_*3060insACACACACACACACACACACACACACACA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSAD1_chr17_50473860_50490974	50483211	A A	AAGAAAGA others(22): Show AAGAAAGAAAGAAAGAAAGAAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0048 a0001c0010t0003g0048	1	382	0.0026	29	c.905 others(44): Show c.905-128_905-127insGAAAGAAAGAAAGAAAGAAAAGAAAGACA	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSBN1L_chr7_77691459_77788022	77725243	A A	AATTTTTT others(22): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 HG03130.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0005 a0003c0012t0012 a0001c0001t0005 a0003c0012t0012	a0001c0001t0005g0206 a0003c0012t0012g0208 a0001c0001t0005g0206 a0003c0012t0012g0208	2	336	0.0060	29	c.587 others(48): Show c.587-11167_587-11166insATTTTTTTTTTTTTTTTTTTTTTTTT TTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7			chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	336	0.0030	29	c.587 others(48): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)