Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PNPLA1_chr6_36265060_36318955	36275964	C C	CTTTCTTT others(94): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0005 a0009c0015t0005	a0009c0015t0005g0045 a0009c0015t0005g0045	1	386	0.0026	101	c.205 others(118): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137517208	G G	GTCACTCA others(94): Show GTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCT GTCCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCATCCCAC AC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp2 HG03139.hp1 others(4): Show HG00642.hp1 HG01361.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 NA18906.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0002c0016 a0002c0033 others(1): Show a0002c0004 a0002c0016 a0002c0033 a0009c0010	a0002c0004t0001 a0002c0016t0001 a0002c0033t0001 others(1): Show a0002c0004t0001 a0002c0016t0001 a0002c0033t0001 a0009c0010t0001	a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0016t0001g0173 others(4): Show a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0016t0001g0173 a0002c0033t0001g0103 a0009c0010t0001g0115 a0009c0010t0001g0116 a0009c0010t0001g0152	7	188	0.0372	101	c.108 others(120): Show c.1085-1690_1085-1689insGTGTGGGATGGAGTGGACAGAGTGGA GTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGAT GGAGTGGACAGAGTGGAGTGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137517512	C C	CTCACTCA others(94): Show CTCACTCACTCCACTCTATCCACTCCATCCCACACTCACTCACTCCACTC TGTCCACTCCATCCCTCACTCACTCACTCCACTCTGTCCACTCCATCCCC CG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0072	1	188	0.0053	101	c.108 others(120): Show c.1085-1994_1085-1993insCGGGGGATGGAGTGGACAGAGTGGAG TGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGTGGGAT GGAGTGGATAGAGTGGAGTGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POR_chr7_75910155_75991855	75988901	T T	TGGGGGGG others(94): Show TGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0268 a0002c0001t0002g0268	1	278	0.0036	101	c.24 others(112): Show c.2420_*2421insGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGAG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2047		chr7	TogoVar
PPFIA2_chr12_81252975_81764350	81584989	T T	TAATATAT others(94): Show TAATATATAATATATTATATATTAATTATATTTATATATAATATATTATA TATTAATTATATTTATATATAATATATTATATATTAATTATATTTATATA TA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	1	168	0.0060	101	c.303 others(120): Show c.303+91801_303+91802insTATATATAAATATAATTAATATATAA TATATTATATATAAATATAATTAATATATAATATATTATATATAAATATA ATTAATATATAATATATTATATATT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP2R2D_chr10_131896008_131964834	131952689	T T	TGGGGGTT others(94): Show TGGGGGTTCACTGTCTTAGTGACTTGTGGGTGTGCGGGGGGGTTCACTTA GTGACTTTCGGGTGTGTGGGGGTTCATTGTCTTAGTGACTTGCGGGTGTG CG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0257 a0001c0001t0017g0257	1	394	0.0025	101	c.108 others(120): Show c.1083-2970_1083-2969insTGGGTGTGCGGGGGGGTTCACTTAGT GACTTTCGGGTGTGTGGGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCG GGGGGTTCACTGTCTTAGTGACTTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161874658	A A	AATATATA others(94): Show AATATATAAATATATATTACATATAAAATGTATAATAAAATATATAATAT ATAAAATGTACAATATATATAAAATATATAATATATAAAATGTACAATAT AT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	101	c.735 others(120): Show c.735-88751_735-88750insATATATTGTACATTTTATATATTATA TATTTTATATATATTGTACATTTTATATATTATATATTTTATTATACATT TTATATGTAATATATATTTATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(94): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	314	0.0032	101	c.116 others(120): Show c.1168-8214_1168-8213insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(94): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	314	0.0032	101	c.116 others(120): Show c.1168-8214_1168-8213insCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRPF31_chr19_54110754_54136713	54134016	T T	TCCCCTCT others(94): Show TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	227	0.0044	101	c.25 others(112): Show c.2584_*2585insCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2304		chr19	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(94): Show AGGGGCTGACCCCCCCACCCTCCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGGC GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	291	0.0034	101	c.-47 others(112): Show c.-4740_-4739insCCGCCCCGGCCAGCCGCCCCATCTTGGAGGGAGG TGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGAGG GTGGGGGGGTCAGCCCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689515	A A	ACCCCCCC others(94): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGGCTG AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	291	0.0034	101	c.-47 others(112): Show c.-4748_-4747insGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCTT GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGG	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4649		chr17	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(94): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	356	0.0028	101	c.241 others(120): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PYGB_chr20_25243085_25303012	25248020	G G	GCCCCGCC others(94): Show GCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCCCCCGAGGCCCCGCCCC GCCCCCCGAGGCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCCCCCGAG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02965.hp1 others(3): Show HG01069.hp2 HG01071.hp1 HG02965.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0189 a0001c0001t0001g0209	6	372	0.0161	101	c.-15 others(110): Show c.-159_-158insCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCCCCC GAGGCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCCCCCGAGGCCCCGC CCCGCCCCCCGAGGC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		64		chr20	TogoVar
QPCT_chr2_37339630_37378322	37347183	T T	TATATCAT others(94): Show TATATCATATATATATAACATATATATAACATATATATAACATATATATA ACATATATATATAACATATATATATAACATATATATAACATATATATATA AC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	442	0.0023	101	c.120 others(118): Show c.120+2336_120+2337insCATATATATATAACATATATATAACATA TATATAACATATATATAACATATATATATAACATATATATATAACATATA TATAACATATATATATAACATAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(94): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT ATATATGTATATATATATATATATATATATATATACATATATATATATTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0121 a0001c0006t0009g0121	1	292	0.0034	101	c.-27 others(112): Show c.-2770_-2769insAAAAATATATATATATGTATATATATATATATAT ATATATATATACATATATATATATATATATATATATATATACATATATAT ATATATATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350920	G G	GCGGGGGG others(94): Show GCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGCGG GGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGCGGGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	342	0.0029	101	c.-51 others(110): Show c.-510_-509insCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGCGGGG GCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGCGG GGGGGGCGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		334		chr20	TogoVar
RASA3_chr13_113972783_114137623	114044277	C C	CTCCCCCC others(94): Show CTCCCCCCGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCTCACTCGCTG AG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	67	0.0149	101	c.278 others(118): Show c.278-3184_278-3183insCTCAGCGAGTGAGGCGGGGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCT CAGCGAGTGAGGCGGCGGGGGGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASGEF1B_chr4_81421393_81476907	81466805	A A	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	316	0.0032	101	c.-7+ others(116): Show c.-7+4964_-7+4965insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(94): Show TATATATATATGATATATATATATATATATGATATATATATATATGATAT ATATATATGATATATATATATATATGATATATATATATGATATATATATA TG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	320	0.0031	101	c.-21 others(120): Show c.-218-2600_-218-2599insCATATATATATATCATATATATATAT CATATATATATATATATCATATATATATATCATATATATATATATCATAT ATATATATATATATCATATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(94): Show TATATATATTCATATATATATTCATAATATATATTCATAATATATATTCA TAATATATATTCATATATATATTCATAATATATATTCATATATATATTCA TA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	406	0.0025	101	c.657 others(118): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATATATTATGAATATATATTATGAATATATATTA TGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGG others(94): Show GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGCAGG TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	204	0.0049	101	c.880 others(118): Show c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTGCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TCTTTCTT others(94): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTC TCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	388	0.0026	101	c.207 others(116): Show c.207+531_207+532insCTTTCTTTCTTTCTTTCTTTCTTTCTCTCT CTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296172	T T	TCTTTCTT others(94): Show TCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTCTCTCTCTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0246 a0001c0002t0002g0246	1	388	0.0026	101	c.207 others(116): Show c.207+536_207+537insCTTTCTTTCTTTCTTTCTTTCTCTCTTTCT CTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RGS17_chr6_152999459_153136282	153053961	T T	TTATATAT others(94): Show TTATATATACATATATATGTATATATGTATATAATATATATACATATATA TGTATATATGTATATAATATATATACATATATATGTATATATGTATATAA TA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03139.hp1 HG03540.hp2 others(1): Show HG01433.hp2 HG03139.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0002t0010 a0001c0001t0010 a0001c0002t0001 a0001c0002t0010	a0001c0001t0010g0331 a0001c0002t0001g0097 a0001c0002t0010g0327 others(1): Show a0001c0001t0010g0331 a0001c0002t0001g0097 a0001c0002t0010g0327 a0001c0002t0010g0330	4	338	0.0118	101	c.-25 others(118): Show c.-25-9919_-25-9918insTATTATATACATATATACATATATATGT ATATATATTATATACATATATACATATATATGTATATATATTATATACAT ATATACATATATATGTATATATA	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RHAG_chr6_49600175_49641839	49628575	G G	GTGGTCTC others(94): Show GTGGTCTCCCTGGCTCAGGAGTGAAGCTGCAGACCTTCACGGTGAGTATT ACAGCTCTTAAGGTGGCGCGTCTGGAGTTGTTCATTCCTCCTGGTGGGCT CA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	400	0.0025	101	c.157 others(118): Show c.157+8080_157+8081insTGAGCCCACCAGGAGGAATGAACAACTC CAGACGCGCCACCTTAAGAGCTGTAATACTCACCGTGAAGGTCTGCAGCT TCACTCCTGAGCCAGGGAGACCA	RHAG	ENSG00000112077.18	transcript	ENST00000371175.10	protein_coding	1/9			chr6	TogoVar
RICTOR_chr5_38932920_39079399	38990691	A A	ATCAGATA others(94): Show ATCAGATATATATCAGATATATCATATATATGATATATATCAGATATATA TGATATATCTGATATATATCATATCTGATATATATCATATATATGATATA TC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0239 a0002c0002t0004g0239	1	338	0.0030	101	c.583 others(116): Show c.583+257_583+258insGATATATCATATATATGATATATATCAGAT ATGATATATATCAGATATATCATATATATCTGATATATATCATATATATG ATATATCTGATATATATCTGA	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIPK2_chr8_89752816_89796064	89753679	G G	GATATTTT others(94): Show GATATTTTATATATATTTATATTTTATATATATATTTTATATATATTTTA TATATATATATTTTATATATATTTATATTTTATATATATTTATATTTTAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp1 others(52): Show HG00408.hp1 HG00642.hp1 HG00673.hp1 HG01081.hp2 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG04204.hp2 NA18522.hp2 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18997.hp2 NA19030.hp1 NA19062.hp1 NA19065.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0181 a0001c0001t0002g0006 a0001c0001t0002g0015 others(28): Show a0001c0001t0001g0181 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0008t0002g0139	55	380	0.1447	101	c.-43 others(112): Show c.-4382_-4381insATATTTTATATATATTTATATTTTATATATATAT TTTATATATATTTTATATATATATATTTTATATATATTTATATTTTATAT ATATTTATATTTTATAT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4136		chr8	TogoVar
RNASE10_chr14_20500537_20518884	20505291	T T	TCTCCCCC others(94): Show TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0069 a0001c0001t0069g0069	1	396	0.0025	101	c.-73 others(110): Show c.-734_-733insCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		245		chr14	TogoVar
RNF224_chr9_137222502_137234640	137233909	A A	AGAACAGC others(94): Show AGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACC CCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19077.hp1 NA19004.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	394	0.0051	101	c.48 others(112): Show c.4823_*4824insGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGT GAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACC GGCCCCTACATGGAGAG	RNF224	ENSG00000233198.4	transcript	ENST00000445101.4	protein_coding		4270		chr9	TogoVar
RNGTT_chr6_88604897_88968618	88947858	G G	GCCAGCCG others(94): Show GCCAGCCGCCCCGTCCCCGGGAGGGAGGTGGGGGAGTCAGCCCTCTGCCC GGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCG GC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0005 a0001c0002t0009g0005	1	220	0.0046	101	c.65- others(116): Show c.65-6679_65-6678insGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGCTGACTCCCCCACCTCCC TCCCGGGGACGGGGCGGCTGG	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RPEL1_chr10_103240887_103253016	103251100	A A	ACTACCAT others(94): Show ACTACCATCACCACCTCCACCACCACCACCATCACCATCACCACCACCAC CACCTCCACCACCATCATCACCACCACATCACCACCACCACCACCATCAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	375	0.0027	101	c.44 others(112): Show c.4417_*4418insCTACCATCACCACCTCCACCACCACCACCATCAC CATCACCACCACCACCACCTCCACCACCATCATCACCACCACATCACCAC CACCACCACCATCACCT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3085		chr10	TogoVar
RPH3AL_chr17_207389_357807	319924	G G	GGGAGGGG others(94): Show GGGAGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGGAGATTGAGGGGA GGGAGGGGGAGGGAGACTGAGGAGAGGGAGGGGGGAGGGAGACTGAGGGG AT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	133	0.0075	101	c.222 others(116): Show c.222-376_222-375insATCCCCTCAGTCTCCCTCCCCCCTCCCTCT CCTCAGTCTCCCTCCCCCTCCCTCCCCTCAATCTCCCTCCCCCTCCCTCC CCTCAGTCTCCCTCCCCCTCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319928	G G	GGGGGAGG others(94): Show GGGGGAGGGAGACTGAGGGGAGGGAGAGGGGGAGGGAGATTGAGGGGAGG GAGGGGGAGGGAGACTGAGGAGAGGGAGGGGGAGGGAGACTGAGGGGATG GA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0014 a0001c0004t0004g0014	1	133	0.0075	101	c.222 others(116): Show c.222-380_222-379insTCCATCCCCTCAGTCTCCCTCCCCCTCCCT CTCCTCAGTCTCCCTCCCCCTCCCTCCCCTCAATCTCCCTCCCCCTCTCC CTCCCCTCAGTCTCCCTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(94): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC TCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0068 a0001c0001t0123g0068	1	366	0.0027	101	c.-15 others(112): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(94): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0004 a0001c0001t0022g0004	1	366	0.0027	101	c.-15 others(112): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(94): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0057 a0001c0001t0017g0057	1	366	0.0027	101	c.-15 others(112): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RSPH10B2_chr7_6749103_6803765	6797863	A A	ATACACAC others(94): Show ATACACACACACACACACACACACACACACACACACACATATACATACAC ACACACACACATATATATACACACACATATATATATACACACACACACAC AT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	108	0.0093	101	c.243 others(118): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACACACATATACATACACACACACACACATATATATACACACACATA TATATATACACACACACACACAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20			chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6797863	A A	ATACACAC others(94): Show ATACACACACACACACACACACACACACACACACACATATACATACACAC ACACACACACATATATATACACACACATATATATATACACACACACACAC AT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0016	1	108	0.0093	101	c.243 others(118): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACACATATACATACACACACACACACACATATATATACACACACATA TATATATACACACACACACACAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20			chr7	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(94): Show CCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCC ACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCC CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	376	0.0027	101	c.-34 others(108): Show c.-34_-33insCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCG CGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCC CGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(94): Show CCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGC CCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCC CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0194 a0001c0010t0002g0194	1	376	0.0027	101	c.-34 others(108): Show c.-34_-33insCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCC CGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATTGTCAT others(94): Show ATTGTCATATATATGTGTCACATATATTGTCATATATATGTGTCACATAT ATTGTCATATATATGTGTCACATATATTGTCATATATATGTGTCACATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0078 a0001c0001t0045g0078	1	202	0.0050	101	c.-26 others(112): Show c.-2626_-2625insTTGTCATATATATGTGTCACATATATTGTCATAT ATATGTGTCACATATATTGTCATATATATGTGTCACATATATTGTCATAT ATATGTGTCACATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RXRA_chr9_134321455_134445585	134368970	T T	TGTGTGTG others(94): Show TGTGTGTGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGGG TTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTG CC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0023 a0001c0001t0052g0023	1	232	0.0043	101	c.29- others(118): Show c.29-32661_29-32660insTGTGTGGGGGGGTTATGTGTGTGGGGGG GGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG GTTATGTGTGTGTGTGAGTGCCG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SAMD10_chr20_63969116_63984642	63970975	T T	TTCCTTCC others(94): Show TTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCTTTCCTTCCTTCT TCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTACC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	342	0.0029	101	c.45 others(112): Show c.4534_*4535insGAGGTAGGGAGGGAGGGAAGAGAAGAGAAGGAAG GAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAGAAGGGAGGGA GGAAGGGAAGGGAAGGA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3140		chr20	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(94): Show TATATATATATACATATATATATATATACGTATATATATATACATATATA TATATATATACGTATATATATATATATATATATATACATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	210	0.0048	101	c.233 others(118): Show c.233-6885_233-6884insTATATATATATATATGTATATATATATA TATATATATATACGTATATATATATATATATGTATATATATATACGTATA TATATATATATGTATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(94): Show TATATATATATACATATATATATATATATACGTATATATATATACATATA TATATATATACGTATATATATATATATATATATATACATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	210	0.0048	101	c.233 others(118): Show c.233-6885_233-6884insTATATATATATATATGTATATATATATA TATATATATATACGTATATATATATATATGTATATATATATACGTATATA TATATATATATGTATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53207474	A A	AAACTCAA others(94): Show AAACTCAATATTAGAAACTGTTAATTAGTTATATCAGGAAAAAATCACTA TATATATATATATATACACACACACATAATTTATATATATAAATATATAT AT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03669.hp2 HG02004.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0007 a0001c0004t0006 a0001c0004t0007	a0001c0004t0006g0158 a0001c0004t0007g0150 a0001c0004t0006g0158 a0001c0004t0007g0150	2	162	0.0124	101	c.131 others(122): Show c.1312-61893_1312-61892insATATATATATTTATATATATAAAT TATGTGTGTGTGTATATATATATATATATAGTGATTTTTTCCTGATATAA CTAATTAACAGTTTCTAATATTGAGTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCGB1C1_chr11_188078_199575	196573	A A	AGGACATG others(94): Show AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGCGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGCGGGGGACCTTGGTGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	354	0.0028	101	c.21 others(112): Show c.2123_*2124insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGCGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGC GGGGGACCTTGGTGAGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1999		chr11	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(94): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0272 a0001c0001t0027g0272	1	276	0.0036	101	c.453 others(120): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(94): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	276	0.0036	101	c.453 others(120): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar

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Search Results (Total: 10000 hits)