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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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
TCF3_chr19_1604292_1657615	1628254	C C	CGGGGATG others(28): Show CGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0005 a0001c0005t0004g0005	1	352	0.0028	35	c.299 others(50): Show c.299-829_299-828insTGTGAGTTCTGCTGTCCCCTTCCCGCCTCA TCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628254	C C	CGGGGGTG others(28): Show CGGGGGTGAGGCGGGAAGAGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0229 a0001c0003t0002g0229	1	352	0.0028	35	c.299 others(50): Show c.299-829_299-828insTGTGAGCTCTGCTGTCCTCTTCCCGCCTCA CCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628254	C C	CGGGGGTG others(28): Show CGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0086 a0001c0004t0086	a0001c0004t0086g0303 a0001c0004t0086g0303	1	352	0.0028	35	c.299 others(50): Show c.299-829_299-828insTGTGAGCTCTGCTGTCCCCTTCCTGCCCCA CCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628259	G G	GTGAGGCG others(28): Show GTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	352	0.0028	35	c.299 others(50): Show c.299-834_299-833insTCCCCTGTGAGCTCTACTGTCCCCTTCCCG CCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628465	A A	ATGAGGCG others(28): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0225 a0001c0003t0002g0225	1	352	0.0028	35	c.299 others(52): Show c.299-1074_299-1040dupCCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628524	G G	GCTCACAG others(28): Show GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0010 a0020c0034t0010	a0020c0034t0010g0146 a0020c0034t0010g0146	1	352	0.0028	35	c.299 others(52): Show c.299-1099_299-1098insTTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628534	G G	GTGAGGCG others(28): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0285 a0001c0004t0003g0285	1	352	0.0028	35	c.299 others(52): Show c.299-1109_299-1108insTCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628563	C C	CGGGGATG others(28): Show CGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0283 a0001c0002t0058g0283	1	352	0.0028	35	c.299 others(52): Show c.299-1138_299-1137insTGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628636	G G	GTGGGGCG others(28): Show GTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0258 a0001c0003t0002g0258	1	352	0.0028	35	c.299 others(52): Show c.299-1211_299-1210insTCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCCCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628678	G G	GGGAAGGG others(28): Show GGGAAGGGGACAGCAGAGCTCACAGGGGGTGGGGCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0279 a0001c0004t0003g0279	1	352	0.0028	35	c.299 others(52): Show c.299-1253_299-1252insTGCCCCACCCCCTGTGAGCTCTGCTGTC CCCTTCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628706	A A	ATGAGGCG others(28): Show ATGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	352	0.0028	35	c.299 others(52): Show c.299-1281_299-1280insCCCCCTGTGAGTTCTGCTGTCCCCTTCC CGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628833	G G	GCTCACAG others(28): Show GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	352	0.0028	35	c.299 others(52): Show c.299-1408_299-1407insTTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGG others(28): Show CGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0018 a0005c0010t0018	a0005c0010t0018g0169 a0005c0010t0018g0169	1	352	0.0028	35	c.299 others(52): Show c.299-1413_299-1412insCTGTGAGCTCTGCTGTCCCCTTCCCGCC CCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(28): Show CGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0026 a0001c0005t0004g0026	1	352	0.0028	35	c.299 others(52): Show c.299-1446_299-1445insCTGTGAGCTCTACTGTCCCCTTCCCGCC TCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629014	G G	GGCGGGAA others(28): Show GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0107 a0001c0007t0003g0107	1	352	0.0028	35	c.299 others(52): Show c.299-1589_299-1588insTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF7L1_chr2_85128392_85315387	85299860	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	236	0.0042	35	c.526 others(52): Show c.526-2624_526-2623insCACACACACACACACACACACACACACA CACACAC	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	4/11			chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112964809	T T	TGATGGTG others(28): Show TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02683.hp1 HG03017.hp1 others(1): Show HG02040.hp1 HG02683.hp1 HG03017.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0023 a0002c0002t0001 others(1): Show a0001c0001t0007 a0001c0001t0023 a0002c0002t0001 a0002c0002t0007	a0001c0001t0007g0189 a0001c0001t0023g0027 a0002c0002t0001g0028 others(1): Show a0001c0001t0007g0189 a0001c0001t0023g0027 a0002c0002t0001g0028 a0002c0002t0007g0198	4	200	0.0200	35	c.450 others(50): Show c.450+186_450+187insATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGG	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112966209	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0184 a0001c0001t0011g0184	1	200	0.0050	35	c.450 others(52): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATAAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCHHL1_chr1_152079141_152094064	152082782	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	35	c.21 others(46): Show c.2184_*2185insTATATATATATATATATATATATATATATATATA T	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding		1358		chr1	TogoVar
TCHP_chr12_109895274_109923069	109901281	G G	GTTGTTTT others(28): Show GTTGTTTTTACTAACCTTGTTTTTTAATGCCTTACC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00735.hp1 others(76): Show HG00423.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA18989.hp1 NA18994.hp2 NA19001.hp2 NA19002.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19075.hp1 NA19077.hp1 NA19081.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0002c0002 a0002c0011 others(3): Show a0001c0001 a0002c0002 a0002c0011 a0003c0003 a0011c0016 a0012c0017	a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0015 a0011c0016t0001 a0012c0017t0001	a0001c0001t0001g0022 a0002c0002t0001g0008 a0002c0002t0001g0014 others(33): Show a0001c0001t0001g0022 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0036 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0011t0001g0096 a0002c0011t0001g0097 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0034 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0107 a0003c0003t0004g0015 a0003c0003t0004g0043 a0003c0003t0015g0041 a0011c0016t0001g0017 a0012c0017t0001g0035	79	332	0.2380	35	c.-1+ others(48): Show c.-1+874_-1+908dupTTTTTTAATGCCTTACCTTGTTTTTACTAACC TTG	TCHP	ENSG00000139437.18	transcript	ENST00000405876.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
TDP2_chr6_24644979_24671899	24648659	G G	GAAAAAAA others(28): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	35	c.21 others(46): Show c.2128_*2129insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		1319		chr6	TogoVar
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02083.hp1 HG02257.hp2 others(1): Show HG01981.hp2 HG02083.hp1 HG02257.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0294 a0001c0001t0001g0300 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0336	4	372	0.0108	35	c.766 others(52): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	418	0.0024	35	c.231 others(50): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATTTT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0140 a0001c0002t0005g0140	1	206	0.0049	35	c.203 others(54): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD1_chr11_12669421_12949737	12840246	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0165 a0001c0002t0014g0165	1	206	0.0049	35	c.203 others(54): Show c.203-21988_203-21987insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TECRL_chr4_64272702_64414450	64374052	C C	CATATATA others(28): Show CATATATATATATATAGTAGATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20905.hp2 HG01175.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0124 a0001c0001t0001g0030 a0001c0001t0001g0124	2	272	0.0074	35	c.286 others(52): Show c.286+1119_286+1120insATATATATATATGTATCTACTATATATA TATATAT	TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	2/11			chr4	TogoVar
TECTA_chr11_121096243_121196490	121185340	C C	CAGATGTT others(28): Show CAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0063 a0033c0063	a0033c0063t0002 a0033c0063t0002	a0033c0063t0002g0026 a0033c0063t0002g0026	1	348	0.0029	35	c.600 others(54): Show c.6000-2458_6000-2457insAAGATGTTCAATGCTTAATGAATGAG TAGGGAAAG	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185537	C C	CGAGTAGG others(28): Show CGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18998.hp2 NA19007.hp1 others(1): Show NA18979.hp2 NA18998.hp2 NA19007.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0057 a0001c0002t0001g0069 a0001c0002t0001g0073 others(1): Show a0001c0002t0001g0057 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0005t0001g0049	4	348	0.0115	35	c.600 others(54): Show c.6000-2239_6000-2205dupGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185628	C C	CAATGCTT others(28): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp1 NA19030.hp1 HG03688.hp2 HG03710.hp1 NA19030.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0005 a0003c0055 a0012c0060 a0001c0005 a0003c0055 a0012c0060	a0001c0005t0002 a0003c0055t0002 a0012c0060t0002 a0001c0005t0002 a0003c0055t0002 a0012c0060t0002	a0001c0005t0002g0099 a0003c0055t0002g0035 a0012c0060t0002g0025 a0001c0005t0002g0099 a0003c0055t0002g0035 a0012c0060t0002g0025	3	348	0.0086	35	c.600 others(54): Show c.6000-2170_6000-2169insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185641	A A	ATGAGTAG others(28): Show ATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0054 a0003c0054	a0003c0054t0002 a0003c0054t0002	a0003c0054t0002g0327 a0003c0054t0002g0327	1	348	0.0029	35	c.600 others(54): Show c.6000-2170_6000-2169insGAATGCTTAATGAGTGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185663	C C	CAATGCTT others(28): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp1 NA18906.hp1 HG01361.hp1 HG02976.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0039 a0003c0004 a0001c0005 a0001c0039 a0003c0004	a0001c0005t0001 a0001c0039t0002 a0003c0004t0002 a0001c0005t0001 a0001c0039t0002 a0003c0004t0002	a0001c0005t0001g0108 a0001c0039t0002g0324 a0003c0004t0002g0309 a0001c0005t0001g0108 a0001c0039t0002g0324 a0003c0004t0002g0309	3	348	0.0086	35	c.600 others(54): Show c.6000-2135_6000-2134insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185698	C C	CAATGCTT others(28): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp2 HG02896.hp1 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0320 a0003c0004t0002g0321 a0003c0004t0002g0320 a0003c0004t0002g0321	2	348	0.0058	35	c.600 others(54): Show c.6000-2100_6000-2099insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185768	C C	CAATGCTT others(28): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03490.hp1 HG03492.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0228 a0002c0001t0001g0004 a0002c0001t0001g0228	3	348	0.0086	35	c.600 others(54): Show c.6000-2030_6000-2029insTAATGCTTAATGAATGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185838	C C	CAATGCTT others(28): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18941.hp2 NA19091.hp1 NA18612.hp1 NA18941.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0001 a0002c0001t0001 a0001c0005t0001 a0002c0001t0001	a0001c0005t0001g0326 a0002c0001t0001g0231 a0002c0001t0001g0249 a0001c0005t0001g0326 a0002c0001t0001g0231 a0002c0001t0001g0249	3	348	0.0086	35	c.600 others(54): Show c.6000-1960_6000-1959insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TELO2_chr16_1488360_1515454	1512470	T T	TTTTTTCT others(28): Show TTTTTTCTTTTGTATCTCGAGTTACTAAATTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0008 a0004c0003t0002g0008	1	446	0.0022	35	c.25 others(46): Show c.2534_*2535insTTTTTCTTTTGTATCTCGAGTTACTAAATTCCAC A	TELO2	ENSG00000100726.15	transcript	ENST00000262319.11	protein_coding		2017		chr16	TogoVar
TENM2_chr5_166974029_168269157	167452948	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0023 a0001c0037 a0001c0023 a0001c0037	a0001c0023t0008 a0001c0037t0030 a0001c0023t0008 a0001c0037t0030	a0001c0023t0008g0004 a0001c0037t0030g0011 a0001c0023t0008g0004 a0001c0037t0030g0011	2	54	0.0370	35	c.502 others(54): Show c.502+77489_502+77490insATATATATATATATATTTTAAATATA TATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167646200	C C	CATATATA others(28): Show CATATATATATATGTTGTTTTCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	54	0.0185	35	c.503 others(56): Show c.503-229774_503-229773insGTTGTTTTCATATATATATATATA TATATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM4_chr11_78647829_79446030	79164529	C C	CTATATAG others(28): Show CTATATAGTACTATATATATCTATATACTATAGATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0048 a0001c0001t0042g0048	1	94	0.0106	35	c.-16 others(56): Show c.-162-15724_-162-15723insTATCTATAGTATATAGATATATAT AGTACTATATA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79164529	C C	CTATATAG others(28): Show CTATATAGTACTATATATATCTATATACTATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02630.hp2 others(4): Show HG00639.hp1 HG01884.hp2 HG02630.hp2 HG03139.hp2 HG03540.hp1 HG03710.hp2 NA19240.hp2	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0001c0006 a0001c0008 others(4): Show a0001c0001 a0001c0006 a0001c0008 a0001c0035 a0001c0046 a0007c0014 a0012c0027	a0001c0001t0001 a0001c0006t0005 a0001c0008t0052 others(4): Show a0001c0001t0001 a0001c0006t0005 a0001c0008t0052 a0001c0035t0034 a0001c0046t0058 a0007c0014t0001 a0012c0027t0016	a0001c0001t0001g0029 a0001c0006t0005g0037 a0001c0008t0052g0069 others(4): Show a0001c0001t0001g0029 a0001c0006t0005g0037 a0001c0008t0052g0069 a0001c0035t0034g0026 a0001c0046t0058g0088 a0007c0014t0001g0018 a0012c0027t0016g0078	7	94	0.0745	35	c.-16 others(56): Show c.-162-15758_-162-15724dupTATATATAGTATATAGATATATAT AGTACTATATA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79384937	T T	TTAAAATA others(28): Show TTAAAATAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02055.hp1 HG02280.hp1 others(8): Show HG00741.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 NA18906.hp1 NA19009.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0020 a0001c0022 a0001c0024	a0001c0001t0020 a0001c0001t0048 a0001c0002t0062 others(8): Show a0001c0001t0020 a0001c0001t0048 a0001c0002t0062 a0001c0004t0017 a0001c0004t0063 a0001c0006t0005 a0001c0007t0018 a0001c0012t0029 a0001c0020t0001 a0001c0022t0033 a0001c0024t0019	a0001c0001t0020g0005 a0001c0001t0048g0075 a0001c0002t0062g0092 others(8): Show a0001c0001t0020g0005 a0001c0001t0048g0075 a0001c0002t0062g0092 a0001c0004t0017g0079 a0001c0004t0063g0091 a0001c0006t0005g0023 a0001c0007t0018g0090 a0001c0012t0029g0027 a0001c0020t0001g0031 a0001c0022t0033g0034 a0001c0024t0019g0001	11	94	0.1170	35	c.-32 others(56): Show c.-321+55537_-321+55571dupTTTTATTTTATTTTATTTTATTTT ATTTTATTTTA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	1/33			chr11	TogoVar
TENT2_chr5_79607441_79693246	79612352	T T	TGGGGGGG others(28): Show TGGGGGGGTTGGGGGGTGGGGGGGGGTTGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	344	0.0029	35	c.-76 others(44): Show c.-761_-760insGGGGGGGTTGGGGGGTGGGGGGGGGTTGGGGGGTG	TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding		88		chr5	TogoVar
TENT5A_chr6_81740730_81757681	81741173	G G	GTTATATA others(28): Show GTTATATATTATATATAATGTGTATCATGTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01069.hp1 others(42): Show HG00423.hp2 HG00544.hp1 HG01069.hp1 HG01071.hp2 HG01516.hp1 HG01517.hp2 HG02027.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03579.hp1 HG03831.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18953.hp2 NA18981.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19074.hp2 NA19075.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0005 a0001c0014 others(4): Show a0001c0001 a0001c0005 a0001c0014 a0002c0002 a0003c0008 a0004c0006 a0009c0015	a0001c0001t0005 a0001c0005t0002 a0001c0005t0023 others(6): Show a0001c0001t0005 a0001c0005t0002 a0001c0005t0023 a0001c0005t0039 a0001c0014t0002 a0002c0002t0001 a0003c0008t0002 a0004c0006t0002 a0009c0015t0024	a0001c0001t0005g0010 a0001c0005t0002g0004 a0001c0005t0023g0040 others(6): Show a0001c0001t0005g0010 a0001c0005t0002g0004 a0001c0005t0023g0040 a0001c0005t0039g0041 a0001c0014t0002g0042 a0002c0002t0001g0002 a0003c0008t0002g0021 a0004c0006t0002g0011 a0009c0015t0024g0043	45	446	0.1009	35	c.85 others(46): Show c.8521_*8522insTATATAACATGATACACATTATATATAATATATA A	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4556		chr6	TogoVar
TERT_chr5_1248167_1300068	1272755	A A	ATCAGACC others(28): Show ATCAGACCCCACGACCGCCATCCACAGTCACCACAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	392	0.0026	35	c.228 others(52): Show c.2287-476_2287-475insGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272821	A A	ACACATCA others(28): Show ACACATCAGACCCCCACAACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	392	0.0026	35	c.228 others(52): Show c.2287-542_2287-541insGTGACTGTGGATGGCGGTTGTGGGGGTC TGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TES_chr7_116205539_116263783	116229034	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp2 HG02523.hp1 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0208 a0001c0002t0001g0209	2	386	0.0052	35	c.28- others(50): Show c.28-5500_28-5499insTATATATATATATATATATATATATATATA TATAT	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6			chr7	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19064.hp1 HG02970.hp2 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0088 a0003c0003t0001g0058 a0003c0003t0001g0088	2	229	0.0087	35	c.252 others(54): Show c.2521-9040_2521-9039insAAAAATATATATATATATATATATAT ATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70869046	A A	ATAAAATA others(28): Show ATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	229	0.0044	35	c.244 others(52): Show c.244+4176_244+4177insCTTTATTTTATTTTATTTTATTTTATTT TATTTTA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	4/29			chrX	TogoVar
TEX12_chr11_112162372_112177556	112163165	A A	ATTCAGCC others(28): Show ATTCAGCCCTTTCCTTAATTGTGAAAGAAAATTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	388	0.0026	35	c.-43 others(46): Show c.-4339_-4338insTTCAGCCCTTTCCTTAATTGTGAAAGAAAATTAT C	TEX12	ENSG00000150783.10	transcript	ENST00000280358.5	protein_coding		4206		chr11	TogoVar
TEX22_chr14_105393538_105418859	105407826	C C	CCTGTGTT others(28): Show CCTGTGTTATGGGGGTCTGTCTGCATGGGGGTCCAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	368	0.0027	35	c.151 others(52): Show c.151-3474_151-3440dupCATCTGTGTTATGGGGGTCTGTCTGCAT GGGGGTC	TEX22	ENSG00000226174.7	transcript	ENST00000451127.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
TGFA_chr2_70442284_70558826	70520945	T T	TATCCAAG others(28): Show TATCCAAGCCAAGCCCCTCCTACACACCCAGCCTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0215 a0001c0001t0025g0215	1	344	0.0029	35	c.41- others(50): Show c.41-6034_41-6033insGGAGGCTGGGTGTGTAGGAGGGGCTTGGCT TGGAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	1/5			chr2	TogoVar

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Search Results (Total: 4618 hits)