Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TDRKH_chr1_151768494_151795500	151781328	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02132.hp2 NA18947.hp1 others(4): Show HG01978.hp1 HG02132.hp2 NA18947.hp1 NA18953.hp2 NA18988.hp2 NA19005.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0120 a0001c0001t0002g0121 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0142 a0001c0001t0002g0166	7	418	0.0168	32	c.231 others(47): Show c.231+152_231+153insATATATATATATATATATATATATATATAT TT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG02056.hp1 others(5): Show HG00408.hp1 HG00735.hp1 HG02056.hp1 HG02080.hp2 HG03195.hp1 HG03516.hp1 NA18979.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0089 others(2): Show a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0089 a0001c0001t0002g0138 a0001c0001t0002g0164	8	418	0.0191	32	c.231 others(47): Show c.231+152_231+153insATATATATATATATATATATATATATATAT AT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	206	0.0049	32	c.203 others(51): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	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	12857578	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	206	0.0049	32	c.203 others(49): Show c.203-4668_203-4637dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTB_chr10_112278400_112310038	112300279	A A	AAAGAAAG others(25): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0116 a0001c0001t0013g0116	1	438	0.0023	32	c.907 others(47): Show c.907+717_907+718insGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG AA	TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
TEC_chr4_48130783_48274838	48160859	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02647.hp1 HG01243.hp2 HG02630.hp2 HG02647.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0001 a0001c0002t0006 a0003c0012t0004 a0001c0001t0001 a0001c0002t0006 a0003c0012t0004	a0001c0001t0001g0314 a0001c0002t0006g0336 a0003c0012t0004g0309 a0001c0001t0001g0314 a0001c0002t0006g0336 a0003c0012t0004g0309	3	346	0.0087	32	c.737 others(49): Show c.737+2842_737+2843insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	8/17			chr4	TogoVar
TEKT1_chr17_6792993_6836729	6793183	G G	GAAAGAAG others(25): Show GAAAGAAGAAAAAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 homoSapiens_chm13v2.hp1 HG02148.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0075 a0004c0005t0006g0086 a0004c0005t0006g0075 a0004c0005t0006g0086	2	406	0.0049	32	c.68 others(43): Show c.6843_*6844insTCTTTCTTTCTTTCTTTCTTTTTTTCTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4809		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793188	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG03195.hp2 HG02145.hp2 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0025 a0001c0002t0003 a0001c0002t0025	a0001c0002t0003g0200 a0001c0002t0003g0202 a0001c0002t0025g0201 a0001c0002t0003g0200 a0001c0002t0003g0202 a0001c0002t0025g0201	3	406	0.0074	32	c.68 others(43): Show c.6838_*6839insCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4804		chr17	TogoVar
TEKT5_chr16_10622501_10699930	10624118	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02155.hp2 NA18964.hp1 others(3): Show HG00597.hp1 HG02155.hp2 NA18964.hp1 NA18985.hp1 NA19080.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0106 a0001c0003t0001g0199 a0002c0002t0001g0245 others(3): Show a0001c0001t0001g0106 a0001c0003t0001g0199 a0002c0002t0001g0245 a0002c0002t0001g0305 a0003c0004t0001g0349 a0003c0004t0001g0358	6	388	0.0155	32	c.34 others(43): Show c.3464_*3465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding		3382		chr16	TogoVar
TEKT5_chr16_10622501_10699930	10679897	C C	CAAATAAA others(25): Show CAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	388	0.0026	32	c.863 others(49): Show c.863+2095_863+2096insATTTATTTATTTATTTATTTATTTATTT ATTT	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding	4/6			chr16	TogoVar
TEKTIP1_chr19_3534174_3549030	3537443	T T	TCCTGGAA others(25): Show TCCTGGAATGTAGCTGGTGCAGTGAGAGGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	442	0.0023	32	c.-17 others(43): Show c.-1735_-1734insCCTGGAATGTAGCTGGTGCAGTGAGAGGGAAA	TEKTIP1	ENSG00000183397.6	transcript	ENST00000329493.6	protein_coding		1730		chr19	TogoVar
TENM1_chrX_124370903_125209312	124375177	C C	CTCTCTCT others(25): Show CTCTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0028 a0001c0025t0028	a0001c0025t0028g0137 a0001c0025t0028g0137	1	140	0.0071	32	c.53 others(43): Show c.5358_*5359insTATATATATATATATATATATATAGAGAGAGA	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding		725		chrX	TogoVar
TENM2_chr5_166974029_168269157	167070107	A A	ATATTTAT others(25): Show ATATTTATTTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0010 a0007c0011t0010	a0007c0011t0010g0038 a0007c0011t0010g0038	1	54	0.0185	32	c.-18 others(51): Show c.-189-3110_-189-3109insATTTATTTATTTATTTATTTATTTAT TTATTT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167101849	T T	TTATATAT others(25): Show TTATATATATATTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0010 a0001c0004t0007g0010	1	54	0.0185	32	c.-75 others(51): Show c.-75+28504_-75+28505insTTATATATATATATATATATATATAT ATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167196534	G G	GTATATAT others(25): Show GTATATATATGTGTATATATATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp2 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0006 a0001c0030t0026 a0001c0001t0006 a0001c0030t0026	a0001c0001t0006g0001 a0001c0030t0026g0014 a0001c0001t0006g0001 a0001c0030t0026g0014	2	54	0.0370	32	c.-74 others(51): Show c.-74-88228_-74-88227insTATATATGTGTATATATATATGTGTG TGTATA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167445336	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0043 a0001c0010t0001g0043	1	54	0.0185	32	c.502 others(51): Show c.502+69864_502+69865insTATATATATATATATATATATATATA TAGAGA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168238213	G G	GAAGAAAA others(25): Show GAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0011 a0001c0028t0011	a0001c0028t0011g0042 a0001c0028t0011g0042	1	54	0.0185	32	c.552 others(51): Show c.5521-6207_5521-6206insAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30			chr5	TogoVar
TENM3_chr4_182238402_182808024	182432846	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01243.hp2 others(3): Show HG00738.hp1 HG01074.hp2 HG01243.hp2 NA18971.hp2 NA18984.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0005t0002 a0001c0007t0004 a0001c0001t0001 a0001c0005t0002 a0001c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0005t0002g0062 a0001c0007t0004g0106	6	140	0.0429	32	c.511 others(51): Show c.511+85919_511+85920insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182432849	G G	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	140	0.0071	32	c.511 others(51): Show c.511+85921_511+85922insGGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182432849	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02698.hp2 HG01975.hp1 HG02698.hp2	a0001 a0010 a0001 a0010	a0001c0009 a0010c0031 a0001c0009 a0010c0031	a0001c0009t0001 a0010c0031t0008 a0001c0009t0001 a0010c0031t0008	a0001c0009t0001g0032 a0010c0031t0008g0015 a0001c0009t0001g0032 a0010c0031t0008g0015	2	140	0.0143	32	c.511 others(51): Show c.511+85936_511+85937insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603765	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG03710.hp1 others(1): Show HG00738.hp1 HG01192.hp1 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0005t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0005t0002 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0005t0002g0040 a0001c0008t0001g0080 others(1): Show a0001c0001t0001g0001 a0001c0005t0002g0040 a0001c0008t0001g0080 a0001c0009t0001g0014	4	140	0.0286	32	c.749 others(49): Show c.749+2605_749+2606insTTATATATATATATATATATATATATAT ATAT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp2 HG03579.hp1 others(1): Show HG01433.hp1 HG02976.hp2 HG03579.hp1 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0012 others(1): Show a0001c0002 a0001c0010 a0001c0012 a0001c0027	a0001c0002t0001 a0001c0010t0002 a0001c0012t0002 others(1): Show a0001c0002t0001 a0001c0010t0002 a0001c0012t0002 a0001c0027t0002	a0001c0002t0001g0043 a0001c0010t0002g0130 a0001c0012t0002g0120 others(1): Show a0001c0002t0001g0043 a0001c0010t0002g0130 a0001c0012t0002g0120 a0001c0027t0002g0005	4	140	0.0286	32	c.749 others(49): Show c.749+2624_749+2625insTATATATATATATATATATATATATATA CACA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	140	0.0071	32	c.749 others(49): Show c.749+2624_749+2625insTATATATATATATATATATATATATATA TACA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182621704	A A	ATATGTAT others(25): Show ATATGTATTATATATAAAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01169.hp2 HG01192.hp2 others(4): Show HG00673.hp2 HG01169.hp2 HG01192.hp2 HG01515.hp2 HG06807.hp1 NA18971.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0015 others(1): Show a0001c0003 a0001c0008 a0001c0015 a0001c0016	a0001c0003t0002 a0001c0008t0001 a0001c0015t0001 others(1): Show a0001c0003t0002 a0001c0008t0001 a0001c0015t0001 a0001c0016t0001	a0001c0003t0002g0035 a0001c0003t0002g0078 a0001c0008t0001g0011 others(4): Show a0001c0003t0002g0035 a0001c0003t0002g0078 a0001c0008t0001g0011 a0001c0015t0001g0018 a0001c0015t0001g0076 a0001c0016t0001g0093 a0001c0016t0001g0094	7	140	0.0500	32	c.750 others(49): Show c.750-6947_750-6946insTATGTATTATATATAAAATATATAATAT ATAT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27			chr4	TogoVar
TENM4_chr11_78647829_79446030	79139777	A A	AATATATA others(25): Show AATATATATATTATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0090 a0001c0007t0018g0090	1	94	0.0106	32	c.-66 others(49): Show c.-66+8932_-66+8933insATTATATATTTATATAAATATAATATAT ATAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139785	T T	TATTATAT others(25): Show TATTATATTTATATAAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0009 a0001c0002t0027g0009	1	94	0.0106	32	c.-66 others(49): Show c.-66+8924_-66+8925insTTATATATTTTATATATTTATATAAATA TAAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENT4B_chr16_50148306_50240310	50182891	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	312	0.0032	32	c.639 others(51): Show c.639-28401_639-28400insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	TENT4B	ENSG00000121274.14	transcript	ENST00000561678.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
TENT5A_chr6_81740730_81757681	81748611	G G	GTGTATAT others(25): Show GTGTATATATACATATAAAATGTATATATAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 NA18949.hp2 NA19055.hp1 HG04184.hp2 NA18949.hp2 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0038 a0003c0003t0018 a0001c0001t0038 a0003c0003t0018	a0001c0001t0038g0065 a0003c0003t0018g0033 a0001c0001t0038g0065 a0003c0003t0018g0033	3	446	0.0067	32	c.10 others(43): Show c.1052_*1083dupTTTTATATATACATTTTATATGTATATATACA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding	3/3	1083		chr6	TogoVar
TEP1_chr14_20360667_20418501	20387551	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04228.hp1 NA20905.hp2 HG03239.hp1 HG04228.hp1 NA20905.hp2	a0044 a0045 a0096 a0044 a0045 a0096	a0044c0061 a0045c0062 a0096c0142 a0044c0061 a0045c0062 a0096c0142	a0044c0061t0003 a0045c0062t0003 a0096c0142t0003 a0044c0061t0003 a0045c0062t0003 a0096c0142t0003	a0044c0061t0003g0074 a0045c0062t0003g0231 a0096c0142t0003g0199 a0044c0061t0003g0074 a0045c0062t0003g0231 a0096c0142t0003g0199	3	400	0.0075	32	c.268 others(49): Show c.2684+353_2684+354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TEP1	ENSG00000129566.13	transcript	ENST00000262715.10	protein_coding	18/54			chr14	TogoVar
TERT_chr5_1248167_1300068	1272643	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	392	0.0026	32	c.228 others(49): Show c.2287-364_2287-363insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272679	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0305 a0001c0020t0001g0305	1	392	0.0026	32	c.228 others(49): Show c.2287-400_2287-399insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272767	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 NA18952.hp1 HG02027.hp2 HG02155.hp2 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0033 a0001c0002t0001g0043 a0001c0002t0001g0009 a0001c0002t0001g0033 a0001c0002t0001g0043	3	392	0.0077	32	c.228 others(49): Show c.2287-488_2287-487insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272891	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	392	0.0026	32	c.228 others(49): Show c.2287-612_2287-611insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272927	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02027.hp2 HG01261.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0173 a0001c0002t0001g0009 a0001c0001t0001g0173 a0001c0002t0001g0009	2	392	0.0051	32	c.228 others(49): Show c.2287-648_2287-647insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272946	C C	CCGCCATC others(25): Show CCGCCATCCACAGTCACCACACATCAGACCCTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	392	0.0026	32	c.228 others(49): Show c.2287-667_2287-666insTAGGGTCTGATGTGTGGTGACTGTGGAT GGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272966	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	392	0.0026	32	c.228 others(49): Show c.2287-687_2287-686insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272987	A A	ACCATCCA others(25): Show ACCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	392	0.0026	32	c.228 others(49): Show c.2287-708_2287-707insCGTGGGGTCTGATGTGTGGTGACTGTGG ATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	392	0.0026	32	c.228 others(49): Show c.2287-728_2287-727insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273043	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18975.hp1 HG02132.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0044 a0001c0002t0001g0045	2	392	0.0051	32	c.228 others(49): Show c.2287-764_2287-763insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273120	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03688.hp1 NA18975.hp1 others(1): Show HG02273.hp2 HG03688.hp1 NA18975.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0020 a0001c0002 a0001c0003 a0001c0020	a0001c0002t0001 a0001c0003t0001 a0001c0020t0001 a0001c0002t0001 a0001c0003t0001 a0001c0020t0001	a0001c0002t0001g0020 a0001c0002t0001g0045 a0001c0003t0001g0295 others(1): Show a0001c0002t0001g0020 a0001c0002t0001g0045 a0001c0003t0001g0295 a0001c0020t0001g0305	4	392	0.0102	32	c.228 others(49): Show c.2287-841_2287-840insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273136	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18955.hp1 NA18967.hp2 others(2): Show HG01169.hp1 NA18955.hp1 NA18967.hp2 NA18999.hp1 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0003c0015t0001 a0001c0001t0001 a0003c0015t0001	a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0003c0015t0001g0110	5	392	0.0128	32	c.228 others(49): Show c.2287-857_2287-856insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACACATCA others(25): Show ACACATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	392	0.0026	32	c.228 others(49): Show c.2287-911_2287-910insACTGTGGATGGCGGTTGTGGGGGTCTGA TGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273206	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02293.hp1 HG02004.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0249 a0001c0001t0001g0250	2	392	0.0051	32	c.228 others(49): Show c.2287-927_2287-926insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273226	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 NA19065.hp1 HG00099.hp2 HG00609.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0317 a0001c0001t0001g0328 a0001c0001t0001g0237 a0001c0001t0001g0317 a0001c0001t0001g0328	3	392	0.0077	32	c.228 others(49): Show c.2287-947_2287-946insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG01975.hp1 others(6): Show HG00738.hp1 HG01192.hp1 HG01975.hp1 HG03239.hp2 HG03704.hp1 HG03710.hp1 NA18941.hp2 NA18971.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0002	a0001c0001t0001g0319 a0001c0001t0002g0348 a0001c0002t0001g0066 others(6): Show a0001c0001t0001g0319 a0001c0001t0002g0348 a0001c0002t0001g0066 a0001c0002t0001g0082 a0001c0003t0001g0271 a0001c0003t0001g0296 a0001c0003t0001g0299 a0001c0004t0001g0054 a0001c0010t0002g0104	9	392	0.0230	32	c.228 others(49): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273278	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18985.hp1 NA19068.hp1 others(1): Show NA18966.hp1 NA18985.hp1 NA19068.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0332 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0332 a0001c0001t0001g0377	4	392	0.0102	32	c.228 others(49): Show c.2287-999_2287-998insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 NA20905.hp1 HG02055.hp1 HG02258.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0001g0177 a0001c0001t0004g0229 a0001c0001t0004g0233	3	392	0.0077	32	c.228 others(51): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273348	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	392	0.0026	32	c.228 others(51): Show c.2287-1069_2287-1068insTGTGGGGGTCTGATGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00408.hp2 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0281 a0001c0002t0001g0038 a0001c0001t0001g0281 a0001c0002t0001g0038	2	392	0.0051	32	c.228 others(51): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273438	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	392	0.0026	32	c.228 others(51): Show c.2287-1159_2287-1158insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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Search Results (Total: 10000 hits)