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
TENM2_chr5_166974029_168269157	167196534	G G	GTATATAT others(27): Show GTATATATATATGTGTATATATATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0012 a0001c0005t0016g0012	1	54	0.0185	34	c.-74 others(53): Show c.-74-88228_-74-88227insTATATATATGTGTATATATATATGTG TGTGTATA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182432846	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 NA18522.hp1 HG00642.hp1 HG01192.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0016t0001 a0001c0001t0001 a0001c0002t0001 a0001c0016t0001	a0001c0001t0001g0089 a0001c0002t0001g0101 a0001c0016t0001g0093 a0001c0001t0001g0089 a0001c0002t0001g0101 a0001c0016t0001g0093	3	140	0.0214	34	c.511 others(53): Show c.511+85919_511+85920insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182600870	T T	TATATATA others(27): Show TATATATATATATATATATGCATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0005 a0001c0027t0002g0005	1	140	0.0071	34	c.512 others(47): Show c.512-41_512-40insTATATGCATATATATATATACATATATATATA TA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603765	T T	TTTTTTAT others(27): Show TTTTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0008 a0010c0031t0008	a0010c0031t0008g0015 a0010c0031t0008g0015	1	140	0.0071	34	c.749 others(51): Show c.749+2605_749+2606insTTTTATATATATATATATATATATATAT ATATAT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	78714420	C C	CTTTGGTT others(27): Show CTTTGGTTTTCTCTCCCTGAATTCAACTAACCTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG02055.hp2 others(10): Show HG00140.hp1 HG01081.hp2 HG02055.hp2 HG02280.hp2 HG02630.hp2 HG02717.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03492.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0039	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0040 a0001c0001t0057 a0001c0002t0003 a0001c0006t0005 a0001c0006t0014 a0001c0008t0005 a0001c0008t0014 a0001c0008t0052 a0001c0039t0046	a0001c0001t0001g0022 a0001c0001t0008g0013 a0001c0001t0015g0086 others(10): Show a0001c0001t0001g0022 a0001c0001t0008g0013 a0001c0001t0015g0086 a0001c0001t0040g0046 a0001c0001t0057g0081 a0001c0002t0003g0058 a0001c0006t0005g0023 a0001c0006t0005g0037 a0001c0006t0014g0049 a0001c0008t0005g0044 a0001c0008t0014g0067 a0001c0008t0052g0069 a0001c0039t0046g0057	13	94	0.1383	34	c.382 others(53): Show c.3822-1740_3822-1707dupTCAGGTTAGTTGAATTCAGGGAGAGA AAACCAAA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	25/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78893780	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0086 a0001c0001t0015g0086	1	94	0.0106	34	c.750 others(51): Show c.750-2445_750-2444insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	7/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139785	T T	TATTATAT others(27): Show TATTATATATTTATATAAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0046 a0001c0001t0040g0046	1	94	0.0106	34	c.-66 others(51): Show c.-66+8924_-66+8925insTTATATATTTTATATATTTATATAAATA TATAAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENT2_chr5_79607441_79693246	79612345	G G	GGGGGGGT others(27): Show GGGGGGGTGGGGGGGTTGGGGGGGTGGGGGGGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0075 a0001c0001t0027g0075	1	344	0.0029	34	c.-76 others(43): Show c.-768_-767insGGGGGGTGGGGGGGTTGGGGGGGTGGGGGGGGTT	TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding		95		chr5	TogoVar
TERT_chr5_1248167_1300068	1256454	T T	TCTGCCTG others(27): Show TCTGCCTGAGCCCCCCATGTACCTGGCCTCACCCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG03486.hp2 others(3): Show HG02630.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0224 a0001c0001t0002g0196 a0001c0001t0003g0123 others(3): Show a0001c0001t0001g0224 a0001c0001t0002g0196 a0001c0001t0003g0123 a0001c0001t0003g0144 a0001c0001t0003g0197 a0001c0001t0003g0226	6	392	0.0153	34	c.303 others(53): Show c.3033-1044_3033-1043insTGGGTGAGGCCAGGTACATGGGGGGC TCAGGCAG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	13/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272525	A A	ACCATCCA others(27): Show ACCATCCACAGTCACCACATCAGACCCCACGACCG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03688.hp1 HG02293.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0334 a0001c0002t0001g0020 a0001c0001t0001g0334 a0001c0002t0001g0020	2	392	0.0051	34	c.228 others(51): Show c.2287-279_2287-246dupCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272679	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	392	0.0026	34	c.228 others(51): Show c.2287-433_2287-400dupGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272715	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	392	0.0026	34	c.228 others(51): Show c.2287-469_2287-436dupGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272966	A A	ACACATCA others(27): Show ACACATCAGACCCCACAACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	392	0.0026	34	c.228 others(51): Show c.2287-687_2287-686insGTGACTGTGGATGGCGGTTGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272987	A A	AACCACCA others(27): Show AACCACCATCTAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	392	0.0026	34	c.228 others(51): Show c.2287-708_2287-707insCGTGGGGTCTGATGTGTGGTGACTAGAT GGTGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272987	A A	AACCGCCA others(27): Show AACCGCCATCCACAGTCACCACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	392	0.0026	34	c.228 others(51): Show c.2287-708_2287-707insCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	392	0.0026	34	c.228 others(51): Show c.2287-761_2287-728dupGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273062	C C	CCGACCGC others(27): Show CCGACCGCCATCCACAGTCACCACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	392	0.0026	34	c.228 others(51): Show c.2287-783_2287-782insTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273068	A A	ACCATCCA others(27): Show ACCATCCACAGTCACCACATCAGACCCCACGACCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG02109.hp1 others(11): Show HG00280.hp1 HG01261.hp2 HG02109.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02965.hp1 HG03195.hp1 HG03490.hp1 NA18963.hp2 NA18969.hp2 NA19007.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 others(11): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0001t0001g0261 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0342 a0001c0001t0001g0376 a0001c0001t0002g0374 a0001c0003t0001g0185	14	392	0.0357	34	c.228 others(51): Show c.2287-789_2287-788insCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273100	A A	AACCGCCA others(27): Show AACCGCCATCCACAGTCACCACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0384 a0001c0024t0001g0384	1	392	0.0026	34	c.228 others(51): Show c.2287-821_2287-820insCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273104	G G	GCCATCCA others(27): Show GCCATCCACAGTCACCACATCAGACCCCACGACCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	392	0.0026	34	c.228 others(51): Show c.2287-825_2287-824insTGGTCGTGGGGTCTGATGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273167	C C	CACGACCG others(27): Show CACGACCGCCATCCACAGTCACCACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0297 a0001c0003t0001g0297	1	392	0.0026	34	c.228 others(51): Show c.2287-888_2287-887insAGGGTCTGATGTGGTGACTGTGGATGGC GGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG02148.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0327 a0001c0004t0001g0041 a0001c0001t0001g0327 a0001c0004t0001g0041	2	392	0.0051	34	c.228 others(51): Show c.2287-944_2287-911dupGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273210	G G	GCCATCCA others(27): Show GCCATCCACAGTCACCACATCAGACCCCACGACCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	392	0.0026	34	c.228 others(51): Show c.2287-931_2287-930insTGGTCGTGGGGTCTGATGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273226	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp1 HG02738.hp1 others(4): Show HG01361.hp2 HG02698.hp1 HG02738.hp1 HG03710.hp2 HG04204.hp1 NA18977.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0012 a0001c0003 a0001c0004 a0001c0012	a0001c0003t0001 a0001c0004t0001 a0001c0012t0001 a0001c0003t0001 a0001c0004t0001 a0001c0012t0001	a0001c0003t0001g0111 a0001c0003t0001g0153 a0001c0003t0001g0155 others(4): Show a0001c0003t0001g0111 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0284 a0001c0003t0001g0304 a0001c0004t0001g0049 a0001c0012t0001g0058	7	392	0.0179	34	c.228 others(51): Show c.2287-980_2287-947dupGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACTGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	392	0.0026	34	c.228 others(51): Show c.2287-983_2287-982insGTGACTGTGGATGGCAGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273278	G G	GACCGCCA others(27): Show GACCGCCATCCACAGTCACCACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp2 HG03139.hp1 HG02257.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0004 a0001c0001t0001g0146	3	392	0.0077	34	c.228 others(51): Show c.2287-999_2287-998insTGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CATCAGAC others(27): Show CATCAGACCCCCACAACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0117 a0001c0022t0001g0117	1	392	0.0026	34	c.228 others(53): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGAT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACACATCA others(27): Show ACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18963.hp1 HG03834.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0336 a0001c0002t0001g0070 a0001c0001t0001g0336 a0001c0002t0001g0070	2	392	0.0051	34	c.228 others(53): Show c.2287-1156_2287-1123dupGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273461	T T	TCACCATC others(27): Show TCACCATCCACAGTCACCACATCAGACCCCACGAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	392	0.0026	34	c.228 others(53): Show c.2287-1182_2287-1181insGTCGTGGGGTCTGATGTGGTGACTGT GGATGGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273643	C C	CCGATCGC others(27): Show CCGATCGCCATCCACAGTCACCACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	392	0.0026	34	c.228 others(53): Show c.2287-1364_2287-1363insTGGGGTCTGATGTGGTGACTGTGGAT GGCGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(27): Show CCGATCACCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19055.hp2 HG00621.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0343 a0001c0001t0001g0321 a0001c0001t0001g0343	2	392	0.0051	34	c.228 others(53): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273790	A A	AACCGCCA others(27): Show AACCGCCATCCACAGTCACCACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	392	0.0026	34	c.228 others(53): Show c.2287-1511_2287-1510insCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TESC_chr12_117033923_117104416	117075847	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	312	0.0032	34	c.59- others(47): Show c.59-508_59-507insTATATATACACACATATATATATATATATATA CA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESC_chr12_117033923_117104416	117075853	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	312	0.0032	34	c.59- others(47): Show c.59-514_59-513insCACACACACACATATATATATATATATATATA TA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESC_chr12_117033923_117104416	117075929	A A	ATATGTAT others(27): Show ATATGTATATATACATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	312	0.0032	34	c.59- others(47): Show c.59-590_59-589insCATACATATATATATATATATGTATATATACA TA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESK2_chr1_45338883_45496163	45385710	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0272 a0001c0002t0004g0272	1	286	0.0035	34	c.393 others(49): Show c.393+201_393+202insTATATATATATATATATATATATATATATA TATA	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	4/10			chr1	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18971.hp1 NA19007.hp1 HG04204.hp2 NA18971.hp1 NA19007.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0022 a0002c0002 a0015c0022	a0002c0002t0001 a0002c0002t0005 a0015c0022t0025 a0002c0002t0001 a0002c0002t0005 a0015c0022t0025	a0002c0002t0001g0115 a0002c0002t0005g0075 a0015c0022t0025g0116 a0002c0002t0001g0115 a0002c0002t0005g0075 a0015c0022t0025g0116	3	376	0.0080	34	c.207 others(51): Show c.207-1130_207-1129insTATATATATATATATATATATATATATA CACACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0073 a0002c0002t0005g0073	1	376	0.0027	34	c.207 others(51): Show c.207-1130_207-1129insTATATATATATATATATATATATATACA CACACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TES_chr7_116205539_116263783	116229033	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19007.hp1 HG01952.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0207 a0001c0002t0010g0215 a0001c0002t0001g0207 a0001c0002t0010g0215	2	386	0.0052	34	c.28- others(49): Show c.28-5500_28-5499insTATATATATATATATATATATATATATATA TAAA	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TET1_chr10_68555337_68699487	68624658	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0025 a0004c0003t0025	a0004c0003t0025g0223 a0004c0003t0025g0223	1	282	0.0036	34	c.196 others(55): Show c.1969-20037_1969-20036insTTCTTTCTTTCTTTCTTTCTCTCT CTCTCTCTCT	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TET2_chr4_105141876_105284803	105284118	A A	ATATATAT others(27): Show ATATATATACACGTGTATATATATATATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0004 a0016c0021t0004	a0016c0021t0004g0346 a0016c0021t0004g0346	1	348	0.0029	34	c.75 others(45): Show c.7599_*7600insTATATATACACGTGTATATATATATATGTATATG	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding		4316		chr4	TogoVar
TET3_chr2_73979910_74113176	74061592	G G	GGGCTGAC others(27): Show GGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	252	0.0040	34	c.249 others(55): Show c.2495-11951_2495-11918dupACCCCCCCCACCTCCCTCCCAGAC GGGGTGGCTG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX13D_chrX_124327660_124341863	124341739	A A	AGAGGAAT others(27): Show AGAGGAATATGACATCATCTCTGTCTTCCGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0000 a0001c0001t0024g0000	1	333	0.0030	34	c.66 others(45): Show c.6677_*6678insGAGGAATATGACATCATCTCTGTCTTCCGGGAGT	TEX13D	ENSG00000282419.3	transcript	ENST00000632372.3	protein_coding		4877		chrX	TogoVar
TEX14_chr17_58551678_58697045	58689942	T T	TGGGTTCA others(27): Show TGGGTTCATGCAATTCTCCTGCCTCAGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	324	0.0031	34	c.-2+ others(49): Show c.-2+1996_-2+1997insGAGGGAGGCTGAGGCAGGAGAATTGCATGA ACCC	TEX14	ENSG00000121101.16	transcript	ENST00000349033.10	protein_coding	1/31			chr17	TogoVar
TEX15_chr8_30826544_30918008	30889934	C C	CATATATA others(27): Show CATATATATATATATACATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01257.hp1 others(17): Show HG01081.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02129.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp1 NA18961.hp2 NA18963.hp1 NA19060.hp1 NA19072.hp2 NA19084.hp2	a0005 a0009 a0034 a0005 a0009 a0034	a0005c0005 a0009c0011 a0034c0048 a0005c0005 a0009c0011 a0034c0048	a0005c0005t0001 a0005c0005t0005 a0005c0005t0010 others(3): Show a0005c0005t0001 a0005c0005t0005 a0005c0005t0010 a0005c0005t0011 a0009c0011t0005 a0034c0048t0001	a0005c0005t0001g0002 a0005c0005t0001g0101 a0005c0005t0001g0102 others(16): Show a0005c0005t0001g0002 a0005c0005t0001g0101 a0005c0005t0001g0102 a0005c0005t0001g0112 a0005c0005t0001g0117 a0005c0005t0001g0119 a0005c0005t0001g0120 a0005c0005t0001g0121 a0005c0005t0001g0122 a0005c0005t0005g0103 a0005c0005t0005g0106 a0005c0005t0005g0111 a0005c0005t0010g0003 a0005c0005t0011g0109 a0009c0011t0005g0100 a0009c0011t0005g0104 a0009c0011t0005g0113 a0009c0011t0005g0114 a0034c0048t0001g0116	20	294	0.0680	34	c.-9- others(49): Show c.-9-2624_-9-2623insATATGTATATATATATATGTATATATATAT ATAT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	2/10			chr8	TogoVar
TEX15_chr8_30826544_30918008	30907480	A A	AGAATTAT others(27): Show AGAATTATTATTATATACAAAAGTGTATATATAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0037 a0037	a0037c0032 a0037c0032	a0037c0032t0001 a0037c0032t0001	a0037c0032t0001g0057 a0037c0032t0001g0057	1	294	0.0034	34	c.-86 others(51): Show c.-86+5398_-86+5399insCTTATATATACACTTTTGTATATAATAA TAATTC	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	1/10			chr8	TogoVar
TEX261_chr2_70980942_70999873	70998348	T T	TCCTCCCA others(27): Show TCCTCCCACTTCAGCCTCTCAAGTAGCTGGGACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	34	c.-35 others(45): Show c.-3592_-3591insTAGTCCCAGCTACTTGAGAGGCTGAAGTGGGAGG	TEX261	ENSG00000144043.13	transcript	ENST00000272438.9	protein_coding		3476		chr2	TogoVar
TEX264_chr3_51666252_51709323	51703549	C C	CTTTTCTT others(27): Show CTTTTCTTTTTTCTTTTTTTTCTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	300	0.0033	34	c.650 others(49): Show c.650-174_650-173insTTTCTTTTTTCTTTTTTTTCTTTTTTTTTT CTTT	TEX264	ENSG00000164081.13	transcript	ENST00000341333.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TEX264_chr3_51666252_51709323	51707451	C C	CTTGCTCG others(27): Show CTTGCTCGCTCCCTGCCCAGATTTTGTGGCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	300	0.0033	34	c.34 others(45): Show c.3435_*3436insTTGCTCGCTCCCTGCCCAGATTTTGTGGCCCAGG	TEX264	ENSG00000164081.13	transcript	ENST00000341333.10	protein_coding		3129		chr3	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 NA21309.hp2 HG03491.hp1 HG03492.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249	3	414	0.0073	34	c.809 others(49): Show c.809-714_809-713insAATATATATATATATATATATATATATATA TATA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 7994 hits)