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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03209.hp1 NA18522.hp2 HG03195.hp2 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0140 a0001c0007t0001g0344 a0001c0007t0001g0346 a0001c0001t0001g0140 a0001c0007t0001g0344 a0001c0007t0001g0346	3	374	0.0080	27	c.-47 others(38): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding					4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	374	0.0027	27	c.182 others(46): Show c.1820+4562_1820+4563insATATATATATATATATATATATTTTT T		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94689811	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0339 a0001c0003t0001g0339	1	374	0.0027	27	c.182 others(46): Show c.1821-2841_1821-2840insTTTTTTTTTTTTTTTTTTTTTTTTTT T		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRG_chr1_216498251_216728429	216682741	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	286	0.0035	27	c.57- others(42): Show c.57-5251_57-5250insCACACACACACACACACACACACACAC		ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6						chr1	TogoVar
ESX1_chrX_104245038_104259933	104250317	T T	TGGGTGGC others(20): Show TGGGTGGCACAGGCGCCATGGGCGGCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp1 HG02145.hp1 HG02559.hp2 others(6): Show HG01243.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp1 HG03540.hp2	a0007 a0014 a0007 a0014	a0007c0007 a0014c0014 a0007c0007 a0014c0014	a0007c0007t0002 a0014c0014t0002 a0007c0007t0002 a0014c0014t0002	a0007c0007t0002g0008 a0014c0014t0002g0021 a0007c0007t0002g0008 a0014c0014t0002g0021	9	313	0.0288	27	c.113 others(36): Show c.1131_1132insGGGCCGCCCATGGCGCCTGTGCCACCC	p.Pro others(40): Show p.Pro377_Arg378insGlyProProMetAlaProValProPro	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1215/1495	1131/1221	377/406			chrX	TogoVar
ESX1_chrX_104245038_104259933	104250317	T T	TGGGTGGC others(20): Show TGGGTGGCAGAGGCGCCATGGGCGGCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00735.hp1 HG01074.hp1 others(77): Show HG00408.hp1 HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18980.hp1 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0002 a0018 a0023 others(2): Show a0002 a0018 a0023 a0027 a0030	a0002c0002 a0018c0034 a0023c0022 others(2): Show a0002c0002 a0018c0034 a0023c0022 a0027c0019 a0030c0029	a0002c0002t0001 a0018c0034t0001 a0023c0022t0001 others(2): Show a0002c0002t0001 a0018c0034t0001 a0023c0022t0001 a0027c0019t0001 a0030c0029t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0011 others(11): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0074 a0018c0034t0001g0051 a0023c0022t0001g0034 a0027c0019t0001g0044 a0030c0029t0001g0048	80	313	0.2556	27	c.110 others(36): Show c.1105_1131dupGGGCCGCCCATGGCGCCTCTGCCACCC	p.Pro others(40): Show p.Pro377_Arg378insGlyProProMetAlaProLeuProPro	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1215/1495	1131/1221	377/406			chrX	TogoVar
ESX1_chrX_104245038_104259933	104250409	G G	GGCGCCAT others(20): Show GGCGCCATGGGCGGCCCGGGTGGCACAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00639.hp1 HG01192.hp1 others(14): Show HG00323.hp1 HG00639.hp1 HG01192.hp1 HG01516.hp1 HG01517.hp2 HG02055.hp1 HG02622.hp2 HG02965.hp1 HG03130.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19091.hp1	a0006 a0011 a0013 others(1): Show a0006 a0011 a0013 a0014	a0006c0006 a0011c0012 a0013c0015 others(1): Show a0006c0006 a0011c0012 a0013c0015 a0014c0014	a0006c0006t0001 a0006c0006t0005 a0011c0012t0002 others(2): Show a0006c0006t0001 a0006c0006t0005 a0011c0012t0002 a0013c0015t0001 a0014c0014t0002	a0006c0006t0001g0007 a0006c0006t0001g0030 a0006c0006t0005g0072 others(4): Show a0006c0006t0001g0007 a0006c0006t0001g0030 a0006c0006t0005g0072 a0011c0012t0002g0015 a0013c0015t0001g0043 a0013c0015t0001g0052 a0014c0014t0002g0021	17	313	0.0543	27	c.101 others(36): Show c.1013_1039dupGTGTGCCACCCGGGCCGCCCATGGCGC	p.Arg others(13): Show p.Arg338_Ala346dup	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1123/1495	1039/1221	347/406			chrX	TogoVar
ESYT2_chr7_158725997_158834509	158729635	A A	ATGGAGGT others(20): Show ATGGAGGTGCTGGGGAGAGGGGCAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0032 a0001c0019t0032	a0001c0019t0032g0222 a0001c0019t0032g0222	1	370	0.0027	27	c.45 others(38): Show c.4571_*4572insCACTTGCCCCTCTCCCCAGCACCTCCA		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding					1361		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729701	G G	GGGGGGGA others(20): Show GGGGGGGAGGAGCAAGTGTGGAGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG06807.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0332 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0332 a0003c0003t0004g0334 a0003c0003t0004g0335	3	370	0.0081	27	c.45 others(38): Show c.4505_*4506insAGCACCTCCACACTTGCTCCTCCCCCC		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding					1295		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729712	A A	AGCAAGTG others(20): Show AGCAAGTGTGGAGGTGCTGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0364 a0004c0005t0001g0364	1	370	0.0027	27	c.44 others(38): Show c.4494_*4495insCCCTCCCCCCAGCACCTCCACACTTGC		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding					1284		chr7	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	336	0.0030	27	c.40- others(40): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAA		ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11						chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02004.hp1 HG00438.hp2 HG00621.hp2 HG02004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0209 a0002c0002t0004g0260 a0002c0002t0004g0261 a0001c0001t0002g0209 a0002c0002t0004g0260 a0002c0002t0004g0261	3	336	0.0089	27	c.39+ others(42): Show c.39+1255_39+1281dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11						chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02735.hp2 HG02622.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0226 a0001c0001t0002g0214 a0001c0001t0002g0226	2	336	0.0060	27	c.-54 others(36): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAA		ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding					464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(20): Show GATATATATATTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	378	0.0027	27	c.701 others(42): Show c.701+321_701+322insATATATATATATATAAAATATATATAT		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12						chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(20): Show GATATATATTTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0300 a0005c0008t0002g0300	1	378	0.0027	27	c.701 others(42): Show c.701+321_701+322insATATATATATATATATAAAATATATAT		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12						chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108753800	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0274 a0002c0002t0001g0274	1	378	0.0027	27	c.502 others(42): Show c.502-790_502-789insTCTTTTCTTTTCTTTCTTTCTTTCTTT		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12						chr4	TogoVar
ETS1_chr11_128453765_128592558	128585087	A A	AAAGGAAA others(20): Show AAAGGAAAGAAAGAAAGGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	286	0.0035	27	c.-15 others(44): Show c.-15+2400_-15+2401insCCTTCTTCTTCCTTTCTTTCTTTCCTT		ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9						chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18998.hp1 HG01943.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	438	0.0046	27	c.-32 others(38): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAA		ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding					2836		chr19	TogoVar
ETV6_chr12_11644674_11900377	11887064	G G	GGTAACTT others(20): Show GGTAACTTAGGAATAGTAAAAGCAATTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0087 a0001c0001t0069g0087	1	262	0.0038	27	c.125 others(46): Show c.1253+1039_1253+1065dupGTAACTTAGGAATAGTAAAAGCAATT A		ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19088.hp2 NA20805.hp1 HG00621.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0294 a0001c0001t0002g0347 a0001c0001t0004g0234 a0001c0001t0002g0294 a0001c0001t0002g0347 a0001c0001t0004g0234	3	384	0.0078	27	c.-19 others(46): Show c.-192+5343_-192+5344insGAGAGAGAGAGAGAGAGAGAGAGAGA G		EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3						chr2	TogoVar
EVC2_chr4_5557439_5713559	5662474	A A	AATATTAA others(20): Show AATATTAAATATAATATTAATATTAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0082 a0002c0045t0001g0082	1	292	0.0034	27	c.114 others(44): Show c.1145+606_1145+632dupATTTAATATTAATATTATATTTAATAT		EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21						chr4	TogoVar
EVI5_chr1_92503696_92790108	92751656	T T	TGTGAAAA others(20): Show TGTGAAAATGCTTTTTCTACTGTTACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02280.hp1 others(7): Show HG01891.hp1 HG02055.hp1 HG02280.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0065 others(7): Show a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072	10	168	0.0595	27	c.-81 others(46): Show c.-81-15056_-81-15030dupGTGTAACAGTAGAAAAAGCATTTTCA C		EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19						chr1	TogoVar
EVX2_chr2_176072472_176088962	176084420	G G	GTTTGTTT others(20): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	430	0.0023	27	c.-64 others(36): Show c.-645_-644insAAAAAAAAAAAAAAAAAAAAAAACAAA		EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding					459		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0018 a0001c0002t0001g0003 a0001c0001t0010g0018 a0001c0002t0001g0003	2	430	0.0047	27	c.-64 others(36): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAA		EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding					460		chr2	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	27	c.199 others(46): Show c.1998+1806_1998+1832dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
EXOC2_chr6_480154_698139	501140	A A	ATATATTA others(20): Show ATATATTATATATTATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 NA18981.hp2 HG00738.hp1 HG01175.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0004 a0001c0004t0001 a0001c0001t0001 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0249 a0001c0002t0004g0018 a0001c0004t0001g0213 a0001c0001t0001g0249 a0001c0002t0004g0018 a0001c0004t0001g0213	3	272	0.0110	27	c.238 others(46): Show c.2381-1441_2381-1440insGATATATATAATATAATATATAATAT A		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501147	T T	TTATATAT others(20): Show TTATATATATCTATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	272	0.0037	27	c.238 others(46): Show c.2381-1448_2381-1447insGATATATATGATATATAGATATATAT A		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501147	T T	TTATATAT others(20): Show TTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	272	0.0037	27	c.238 others(46): Show c.2381-1448_2381-1447insGATATATATAATATATAGATATATAT A		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	658629	A A	AATATATA others(20): Show AATATATATATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0178 a0001c0003t0002g0178	1	272	0.0037	27	c.-43 others(46): Show c.-43-20795_-43-20769dupATATATATATAAAATATATATATATA T		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EXOC2_chr6_480154_698139	658645	T T	TTATATAT others(20): Show TTATATATATATATATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0175 a0001c0002t0008g0175	1	272	0.0037	27	c.-43 others(46): Show c.-43-20785_-43-20784insTAAAATATATATATATATATATATAT A		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EXOC3_chr5_438176_472290	443229	G G	GGGCGGCG others(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0021 a0001c0002t0033g0021	1	418	0.0024	27	c.-95 others(34): Show c.-95_-69dupGCGGCGGCGGCGGCGGCGGCGGCGGCG		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13				2927	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC4_chr7_133248078_134070761	133604710	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	102	0.0098	27	c.141 others(48): Show c.1418-25335_1418-25334insCTTCCTTCCTTCCTTCCTTCCTTC TTT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17						chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72397660	T T	TAAAATAA others(20): Show TAAAATAAAATAAAATAAAATAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01884.hp1 others(9): Show HG00323.hp1 HG00735.hp1 HG01884.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 others(9): Show a0001c0001t0001g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0003g0057 a0001c0001t0006g0055 a0001c0001t0008g0033 a0001c0001t0012g0039 a0001c0001t0012g0052 a0001c0002t0001g0020 a0001c0002t0001g0022	12	104	0.1154	27	c.198 others(48): Show c.1981-17791_1981-17790insTTTTTTTATTTTATTTTATTTTAT TTT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21						chr2	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03098.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0001 a0001c0001t0001g0135	4	430	0.0093	27	c.-38 others(38): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAAAAAA		EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding					3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0103 a0008c0009t0001g0103	1	314	0.0032	27	c.444 others(44): Show c.444-4183_444-4182insAAAAATATATATATATATATATATATA		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5						chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532367	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	314	0.0032	27	c.444 others(44): Show c.444-4184_444-4183insTATATATATATATATATATATATATAT		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5						chr11	TogoVar
EXT1_chr8_117789490_118116826	117827784	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0087 a0001c0001t0055g0087	1	190	0.0053	27	c.128 others(46): Show c.1284+2419_1284+2445dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	4/10						chr8	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0071 a0002c0002t0003g0071	1	372	0.0027	27	c.780 others(44): Show c.780-1485_780-1484insAAAAAAAAAAAGAAAAAAAAAAAAAAA		EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA2_chr20_46889843_47193844	46986403	G G	GATCTATA others(20): Show GATCTATATATCTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	238	0.0042	27	c.-10 others(44): Show c.-10-3589_-10-3588insTCTATATATAATATATAAATCTATATA		EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp1 NA19240.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0133 a0001c0002t0001g0236 a0001c0002t0001g0029 a0001c0002t0001g0133 a0001c0002t0001g0236	3	238	0.0126	27	c.143 others(44): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAAAAAAAAAAAA		EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15						chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0200 a0001c0001t0008g0200	1	392	0.0026	27	c.-68 others(46): Show c.-68-15034_-68-15033insATATATATATATATATATATATATAT A		EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17						chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA18993.hp1 HG01256.hp2 HG01258.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0009g0209 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0009g0209	3	392	0.0077	27	c.-68 others(46): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT A		EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17						chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0344 a0001c0001t0006g0344	1	392	0.0026	27	c.-68 others(46): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT A		EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17						chr1	TogoVar
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0360 a0001c0001t0004g0360	1	392	0.0026	27	c.-68 others(46): Show c.-68-15035_-68-15034insTATATATATATATATATATATATATA T		EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17						chr1	TogoVar
EYS_chr6_63714980_65712226	64864385	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0002 a0004c0017t0001g0002	1	24	0.0417	27	c.299 others(48): Show c.2992+22311_2992+22312insAAAAAAAAAAAAAAAAAAAAAAAA AAA		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	19/42						chr6	TogoVar
EYS_chr6_63714980_65712226	65306832	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0001 a0017c0013t0001	a0017c0013t0001g0017 a0017c0013t0001g0017	1	24	0.0417	27	c.176 others(48): Show c.1767-10740_1767-10714dupTTTTTTTTTTTTTTTTTTTTTTTT TTT		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42						chr6	TogoVar
EYS_chr6_63714980_65712226	65317825	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0001 a0021c0024t0001g0001	1	24	0.0417	27	c.176 others(48): Show c.1766+17154_1766+17155insAAAGAAAGAAGGAAGGAAGGAAGG AAG		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42						chr6	TogoVar
F13A1_chr6_6139084_6325662	6210347	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0070 a0006c0014t0002g0070	1	292	0.0034	27	c.111 others(48): Show c.1112+11685_1112+11686insATATATATATATATATATATATAT ATA		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14						chr6	TogoVar
F13A1_chr6_6139084_6325662	6210348	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	292	0.0034	27	c.111 others(48): Show c.1112+11684_1112+11685insTATATATATATATATATATATATA TAT		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14						chr6	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG03540.hp1 others(4): Show HG02109.hp1 HG02622.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0083 a0001c0001t0001g0005 a0001c0001t0001g0083	7	400	0.0175	27	c.-80 others(36): Show c.-802_-801insAAAATATATATATATATATATATATAT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding					750		chr13	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)