JoGo: Joint Open Genome and Omics Platform

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
CTNNA1_chr5_138748425_138940034	138777903	A A	AGAGGAGG others(23): Show AGAGGAGGGAGAGGGGGAGGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02074.hp2 others(2): Show HG00741.hp1 HG01243.hp1 HG02074.hp2 HG02486.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0002t0003g0032 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0044	5	180	0.0278	30	c.-2- others(45): Show c.-2-3985_-2-3956dupAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138777937	G G	GAGGGAGA others(23): Show GAGGGAGAGGGGGAGGAGGGAGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02559.hp2 others(9): Show HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	12	180	0.0667	30	c.-2- others(45): Show c.-2-3957_-2-3956insAAGGGAGAGGGGGAGGAGGGAGAGGGGGAG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0007 a0001c0007t0001g0068 a0001c0002t0001g0007 a0001c0007t0001g0068	2	68	0.0294	30	c.299 others(49): Show c.299-39191_299-39190insTTATATATATATATATATATATATAT ATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTATATA others(23): Show TTTATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0004 a0001c0002t0001g0022	2	68	0.0294	30	c.174 others(49): Show c.1741+3998_1741+3999insTTATATATATATATATATATATATAC ACAC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTTTATA others(23): Show TTTTTATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG03139.hp2 others(1): Show HG02630.hp2 HG02965.hp2 HG03139.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0014 others(1): Show a0001c0001 a0001c0010 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0010t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0014t0001 a0002c0006t0001	a0001c0001t0001g0067 a0001c0010t0001g0024 a0001c0014t0001g0016 others(1): Show a0001c0001t0001g0067 a0001c0010t0001g0024 a0001c0014t0001g0016 a0002c0006t0001g0060	4	68	0.0588	30	c.174 others(49): Show c.1741+3998_1741+3999insTTTTATATATATATATATATATATAT ACAC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66042899	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	46	0.0217	30	c.215 others(51): Show c.2159+26379_2159+26408dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATGTATA others(23): Show GATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	30	c.153 others(51): Show c.1532-42546_1532-42545insATATATATATATATATATATATAT ATACAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(23): Show TATATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp1 HG01081.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0008 a0001c0004t0007 a0001c0003t0008 a0001c0004t0007	a0001c0003t0008g0002 a0001c0004t0007g0005 a0001c0003t0008g0002 a0001c0004t0007g0005	2	46	0.0435	30	c.104 others(51): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TTTATTTA others(23): Show TTTATTTATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0016 a0001c0007t0015g0016	1	46	0.0217	30	c.104 others(51): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT AAATAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	46	0.0217	30	c.293 others(49): Show c.293-26375_293-26374insTATATATATATATATATATATATATA TACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNND1_chr11_57756802_57824540	57762290	A A	AATACAGG others(23): Show AATACAGGAAGCTGAATAGATCCAGAGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0265 a0002c0003t0004g0265	1	288	0.0035	30	c.-21 others(47): Show c.-214+173_-214+202dupTACAGGAAGCTGAATAGATCCAGAGGGG TA	CTNND1	ENSG00000198561.16	transcript	ENST00000399050.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNND2_chr5_10966836_11909446	11376322	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 NA19068.hp2 HG02258.hp1 NA19043.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0001t0001g0003 a0001c0003t0001g0007 a0001c0004t0001g0019	3	26	0.1154	30	c.117 others(49): Show c.1177+8342_1177+8343insGATACATGAACACACACACACACACA CACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879341	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0004 a0001c0001t0001g0011	2	26	0.0769	30	c.37+ others(47): Show c.37+24475_37+24476insTATATATATATATATATATATATACACA CA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(23): Show AGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0303 a0002c0002t0004g0303	1	372	0.0027	30	c.-18 others(41): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0124 a0001c0001t0083g0124	1	372	0.0027	30	c.61+ others(45): Show c.61+1118_61+1119insATATATATATATATATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0130 a0001c0001t0079g0130	1	372	0.0027	30	c.61+ others(45): Show c.61+1118_61+1119insATATATATATATATATATATATATATATTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0143 a0001c0001t0060g0143	1	372	0.0027	30	c.61+ others(45): Show c.61+1118_61+1119insATATATATATATATATATATATATTTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(23): Show CATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00140.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0174 a0001c0001t0001g0185	2	226	0.0089	30	c.129 others(49): Show c.1296+5520_1296+5521insATATATATATATATATATATGTATAT ATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10747317	A A	ATATATAT others(23): Show ATATATATTATATATTATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG03516.hp2 HG02965.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0114 a0001c0003t0001g0200 a0001c0003t0001g0045 a0001c0003t0001g0114 a0001c0003t0001g0200	3	406	0.0074	30	c.-40 others(41): Show c.-4096_-4095insTATATATTATATATTATATATAATATATAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3928		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747332	T T	TATATATA others(23): Show TATATATAATATATATTATATATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02451.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0204 a0001c0003t0001g0047 a0001c0001t0002g0204 a0001c0003t0001g0047	2	406	0.0049	30	c.-40 others(41): Show c.-4081_-4080insATATATAATATATATTATATATTATATATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3913		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747340	A A	ATATATAT others(23): Show ATATATATTATATATTATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG04199.hp2 HG04204.hp1 HG00738.hp2 HG04199.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0003 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0001t0001g0003 a0001c0003t0004g0159 a0001c0003t0004g0160	3	406	0.0074	30	c.-40 others(41): Show c.-4073_-4072insTATATATTATATATTATATATAATATATAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3905		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(23): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01358.hp1 others(23): Show HG00558.hp2 HG01074.hp1 HG01358.hp1 HG01884.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02280.hp2 HG02615.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03654.hp2 HG03688.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18974.hp2 NA18986.hp2 NA19000.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0034 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0292 a0001c0001t0002g0057	26	434	0.0599	30	c.24 others(41): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSS_chr1_150725188_150770778	150744398	A A	ATTATATA others(23): Show ATTATATATGTATATTATGTATACATAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	344	0.0029	30	c.896 others(47): Show c.896+3378_896+3379insATATTATGTATACATAATATACATATAT AA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744505	A A	ATTATATA others(23): Show ATTATATATGTATATTATGTATACATAATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	344	0.0029	30	c.896 others(47): Show c.896+3271_896+3272insATATTATGTATACATAATATACATATAT AA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117864629	A A	AGAATATA others(23): Show AGAATATATATATTCATATATCTAGATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	164	0.0061	30	c.82- others(45): Show c.82-3314_82-3313insATATATCTAGATATATGAATATATATATTC	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117864629	A A	AGAATATA others(23): Show AGAATATATATATTCATATATCTAGATGTAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01192.hp1 others(16): Show HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp1 HG02040.hp1 HG02145.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG04228.hp1 NA18951.hp2 NA18960.hp2 NA18969.hp2 NA18982.hp1 NA19003.hp1 NA19006.hp2 NA19011.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0003c0003t0002 a0007c0013t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0004t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0003c0003t0002g0029 a0007c0013t0001g0026	19	164	0.1159	30	c.82- others(45): Show c.82-3343_82-3314dupATACATCTAGATATATGAATATATATATTC	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG06807.hp2 NA18962.hp1 HG02523.hp1 HG06807.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0120	3	164	0.0183	30	c.81+ others(45): Show c.81+1461_81+1490dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871874	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	164	0.0061	30	c.81+ others(45): Show c.81+1460_81+1461insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	338	0.0030	30	c.-16 others(49): Show c.-161-4742_-161-4741insGCGCACACACACACACACACACACAC ACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL2_chr10_35003551_35095341	35021863	G G	GGGTGGGG others(23): Show GGGTGGGGTGAGGTGGGGTGAGGTGGGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG02647.hp2 HG00738.hp2 HG02615.hp1 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0242 a0001c0004t0006g0244 a0001c0004t0006g0271 a0001c0004t0006g0242 a0001c0004t0006g0244 a0001c0004t0006g0271	3	300	0.0100	30	c.168 others(49): Show c.1684+3239_1684+3268dupTCACCCCACCTCACCCCACCTCACCC CACC	CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	17/20			chr10	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18977.hp2 NA18986.hp1 others(1): Show HG03688.hp2 NA18977.hp2 NA18986.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0269 a0001c0001t0001g0297	4	396	0.0101	30	c.203 others(47): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260210	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	396	0.0025	30	c.203 others(47): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAACAAAAAAA AA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260211	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02155.hp1 HG02080.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	396	0.0051	30	c.203 others(47): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAACAAAAAA AA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUX1_chr7_101811007_102288958	101853584	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	132	0.0076	30	c.63+ others(47): Show c.63+37500_63+37529dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	101853584	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0064 a0001c0001t0060g0064	1	136	0.0074	30	c.30+ others(47): Show c.30+35924_30+35953dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0098 a0001c0007t0001g0098	1	100	0.0100	30	c.292 others(49): Show c.2927-5466_2927-5465insTCTCTCTCCCCCTCTCTCCCTCTCTC CCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111330676	A A	AATACATA others(23): Show AATACATATACATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG02622.hp1 others(2): Show HG01099.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 others(2): Show a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0071 a0001c0003t0001g0046	5	100	0.0500	30	c.292 others(49): Show c.2927-3750_2927-3749insCATATATATATATATATACATATACA TATA	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02040.hp1 HG02922.hp1 others(13): Show HG01943.hp1 HG02040.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19009.hp2 NA19030.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(1): Show a0002c0002 a0002c0004 a0002c0006 a0002c0010	a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0002c0004t0003 a0002c0006t0002 a0002c0010t0002	a0002c0002t0001g0043 a0002c0002t0001g0175 a0002c0002t0002g0022 others(13): Show a0002c0002t0001g0043 a0002c0002t0001g0175 a0002c0002t0002g0022 a0002c0002t0002g0031 a0002c0002t0002g0034 a0002c0002t0002g0039 a0002c0002t0002g0060 a0002c0002t0002g0259 a0002c0004t0002g0059 a0002c0004t0002g0077 a0002c0004t0002g0168 a0002c0004t0003g0054 a0002c0004t0003g0055 a0002c0006t0002g0064 a0002c0006t0002g0164 a0002c0010t0002g0235	16	260	0.0615	30	c.670 others(45): Show c.670-646_670-645insTATATATATATATATATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWC27_chr5_64763930_65023750	64954650	C C	CTATATAT others(23): Show CTATATATATATATATATAGAAAGCACTATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02809.hp2 HG02165.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0240 a0001c0003t0001g0136 a0001c0003t0001g0240	2	260	0.0077	30	c.104 others(51): Show c.1043-17037_1043-17036insTAGAAAGCACTATATATATATATA TATATA	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402871	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp2 HG01346.hp2 HG02055.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0338 a0004c0004t0002g0341 a0004c0004t0002g0338 a0004c0004t0002g0341	2	392	0.0051	30	c.161 others(49): Show c.1618-9977_1618-9976insTATATATATATATATATATATATATA TATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0023 a0008c0009t0002g0023	1	392	0.0026	30	c.161 others(49): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG03139.hp1 HG02647.hp1 HG02886.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0002 a0001c0001t0002 a0001c0015t0002	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0015t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0015t0002g0229	3	392	0.0077	30	c.161 others(49): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA CACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039306	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02622.hp2 NA19068.hp2 HG02132.hp1 HG02622.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0235 a0001c0001t0001g0262 a0001c0001t0001g0266	3	296	0.0101	30	c.180 others(49): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039332	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	296	0.0034	30	c.180 others(49): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA CTGA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXADR_chr21_17508043_17575100	17534060	C C	CTATATAT others(23): Show CTATATATATATATACACATATATATAGCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19090.hp2 HG00099.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0291 a0001c0001t0007g0317 a0001c0001t0001g0291 a0001c0001t0007g0317	2	352	0.0057	30	c.44- others(47): Show c.44-12957_44-12956insTATACACATATATATAGCTATATATATA TA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXADR_chr21_17508043_17575100	17563940	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	352	0.0028	30	c.834 others(47): Show c.834-1467_834-1466insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(23): Show GTGTGTGTGCGCGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0012 a0010c0009t0001g0012	1	73	0.0137	30	c.-39 others(41): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCGCGCGCACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(23): Show GTGTGTGTGTGCGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG01106.hp1 others(5): Show HG00673.hp1 HG01069.hp1 HG01106.hp1 HG01169.hp1 HG01952.hp1 HG02683.hp2 HG03486.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0002c0002t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0004 a0002c0002t0001g0002	8	73	0.1096	30	c.-39 others(41): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03492.hp1 NA19043.hp1 HG03139.hp1 HG03492.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0002 a0002c0002t0002g0006 a0002c0002t0001g0002 a0002c0002t0002g0006	3	73	0.0411	30	c.-39 others(41): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCGCACACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	73	0.0137	30	c.-39 others(41): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCACACACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar

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Search Results (Total: 10000 hits)