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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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
TBC1D9_chr4_140615782_140761385	140712449	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02165.hp1 HG03688.hp1 HG01261.hp2 HG02165.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0008t0005 a0001c0001t0001 a0001c0003t0001 a0001c0008t0005	a0001c0001t0001g0028 a0001c0003t0001g0216 a0001c0008t0005g0241 a0001c0001t0001g0028 a0001c0003t0001g0216 a0001c0008t0005g0241	3	298	0.0101	38	c.131 others(57): Show c.131-10836_131-10835insATATATATATATATATATATATATAT ATATATATATAT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCD_chr17_82747065_82950914	82864809	C C	CCACTCCC others(31): Show CCACTCCCCGGGGCACCGTGGGGACAGCGGGGGCCTGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(48): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01358.hp1 HG01981.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02602.hp1 HG02683.hp2 HG02965.hp1 HG02970.hp2 HG03516.hp1 HG03654.hp1 HG03831.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18983.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0017 others(6): Show a0001c0001 a0001c0002 a0001c0017 a0001c0027 a0001c0030 a0001c0037 a0002c0010 a0002c0043 a0010c0033	a0001c0001t0002 a0001c0001t0006 a0001c0001t0043 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0017t0003 a0001c0027t0001 a0001c0030t0002 a0001c0037t0002 a0002c0010t0008 a0002c0010t0009 a0002c0010t0038 a0002c0043t0036 a0010c0033t0006	a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0019 others(48): Show a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0130 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0317 a0001c0001t0006g0011 a0001c0001t0006g0024 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0006g0068 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0043g0081 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0002g0025 a0001c0002t0002g0031 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0017t0003g0057 a0001c0027t0001g0007 a0001c0030t0002g0089 a0001c0037t0002g0070 a0002c0010t0008g0168 a0002c0010t0009g0142 a0002c0010t0009g0143 a0002c0010t0009g0144 a0002c0010t0009g0145 a0002c0010t0009g0166 a0002c0010t0038g0291 a0002c0043t0036g0001 a0010c0033t0006g0090	51	318	0.1604	38	c.131 others(57): Show c.1319-5369_1319-5332dupCGGGGCACCGTGGGGACAGCGGGGGC CTGCTCACTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82864817	C C	CGGGGCAC others(31): Show CGGGGCACCGTGGGGACAGCGGGGGCCTGCTCACTCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	318	0.0031	38	c.131 others(57): Show c.1319-5370_1319-5369insTGGGGCACCGTGGGGACAGCGGGGGC CTGCTCACTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	306	0.0033	38	c.-12 others(59): Show c.-121-13567_-121-13566insAAAAAAAATATATATATATATATA TATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1X_chrX_9460058_9724740	9665489	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0013 a0001c0005t0019g0013	1	199	0.0050	38	c.211 others(57): Show c.211+11180_211+11217dupTATATATATATATATATATATATATA TATATATATATA	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	5/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBPL1_chr6_133948224_133995432	133987660	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01074.hp2 NA18977.hp1 others(2): Show HG00735.hp1 HG01074.hp2 NA18977.hp1 NA18979.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0040 a0001c0001t0013 a0001c0001t0040	a0001c0001t0013g0244 a0001c0001t0013g0247 a0001c0001t0013g0251 others(2): Show a0001c0001t0013g0244 a0001c0001t0013g0247 a0001c0001t0013g0251 a0001c0001t0013g0252 a0001c0001t0040g0028	5	330	0.0152	38	c.62 others(47): Show c.627_*628insATATATATATATATATATATATATATATATGTATAT AT	TBPL1	ENSG00000028839.10	transcript	ENST00000237264.9	protein_coding	7/7	628	INFO_REALIGN_3_PRIME	chr6	TogoVar
TBPL2_chr14_55409210_55445616	55444190	A A	ATATTTAA others(31): Show ATATTTAATTTTTAAGGTAATTTATAAGGTACCACGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	404	0.0025	38	c.-37 others(49): Show c.-3742_-3741insAGACGTGGTACCTTATAAATTACCTTAAAAATTA AATA	TBPL2	ENSG00000182521.6	transcript	ENST00000247219.6	protein_coding		3575		chr14	TogoVar
TBX15_chr1_118878047_118993343	118893615	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0328 a0003c0004t0012g0328	1	364	0.0028	38	c.102 others(57): Show c.1024+5412_1024+5413insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	TBX15	ENSG00000092607.15	transcript	ENST00000369429.5	protein_coding	7/7			chr1	TogoVar
TBX20_chr7_35197430_35259100	35201030	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	302	0.0033	38	c.13 others(49): Show c.1399_*1400insATATATATATATATATATATATATATATATATAT ATAT	TBX20	ENSG00000164532.11	transcript	ENST00000408931.4	protein_coding		1399		chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139905073	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTTTCTTTCTCTTTCTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03041.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0109 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0109	3	270	0.0111	38	c.237 others(55): Show c.237-6149_237-6148insCTCTCTCTCTCTTTCTTTCTCTTTCTCC CTCTCTTTCT	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984640	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0106 a0001c0001t0001g0009 a0001c0001t0001g0106	2	270	0.0074	38	c.113 others(59): Show c.1134+22408_1134+22409insAAGAAAGAAAGAAAGAAAGAAAGA AACAAAGAAAGAAA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984640	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	270	0.0037	38	c.113 others(59): Show c.1134+22408_1134+22409insAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCAIM_chr3_44333766_44414448	44396569	C C	CCAAATAA others(31): Show CCAAATAACTTTATCACAGCTGAACTTTTAAATCTGTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	248	0.0040	38	c.793 others(53): Show c.793+109_793+110insTCAAATAACTTTATCACAGCTGAACTTTTA AATCTGTT	TCAIM	ENSG00000179152.20	transcript	ENST00000342649.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
TCF12_chr15_56913644_57294853	56984001	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	330	0.0030	38	c.148 others(57): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	330	0.0030	38	c.148 others(57): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57075804	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	330	0.0030	38	c.222 others(57): Show c.222+12012_222+12013insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57177608	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	330	0.0030	38	c.390 others(57): Show c.390+11172_390+11173insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	355	0.0028	38	c.-36 others(55): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF20_chr22_42155013_42275653	42242227	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0033	1	355	0.0028	38	c.-36 others(57): Show c.-36-26887_-36-26886insATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	300	0.0033	38	c.-46 others(49): Show c.-4615_-4614insAAAAAAAAATATATATATATATATATATATATAT ATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	300	0.0033	38	c.-46 others(49): Show c.-4615_-4614insAAAAAAATATATATATATATATATATATATATAT ATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAACA others(31): Show AAAAAACATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	300	0.0033	38	c.-46 others(49): Show c.-4615_-4614insAAAAACATATATATATATATATATATATATATAT ATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	300	0.0033	38	c.-46 others(49): Show c.-4615_-4614insAAAAATATATATATATATATATATATATATATAT ATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCGGCTC others(31): Show CCCGGCTCCCACCTCCCAGTTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	300	0.0033	38	c.179 others(55): Show c.1799+511_1799+512insCCGGCTCCCACCTCCCAGTTTTCCACCT CCCAGCTCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TCF3_chr19_1604292_1657615	1654996	C C	CTTCTTCT others(31): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	352	0.0028	38	c.-27 others(49): Show c.-2737_-2736insTAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding		2382		chr19	TogoVar
TCF7L2_chr10_112945247_113172678	112966184	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19043.hp2 HG02622.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0094 a0001c0001t0004g0132 a0001c0001t0002g0094 a0001c0001t0004g0132	2	200	0.0100	38	c.450 others(55): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATATATAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7_chr5_134109681_134153210	134153182	G G	GGAAAAAT others(31): Show GGAAAAATTGGTGGGTGCTGTGGCTCACATCTGTAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	38	c.68 others(49): Show c.6879_*6880insGAAAAATTGGTGGGTGCTGTGGCTCACATCTGTA ATAC	TCF7	ENSG00000081059.20	transcript	ENST00000342854.10	protein_coding		4973		chr5	TogoVar
TCHHL1_chr1_152079141_152094064	152082756	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00733.hp2 others(20): Show HG00597.hp1 HG00639.hp2 HG00733.hp2 HG01361.hp1 HG02027.hp2 HG02145.hp1 HG02572.hp1 HG02683.hp2 HG02895.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp1 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	23	376	0.0612	38	c.22 others(49): Show c.2210_*2211insATATATATATATATATATATATATATATATATAT ATAT	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding		1384		chr1	TogoVar
TCN2_chr22_30602174_30632271	30608526	C C	CTGCATGT others(31): Show CTGCATGTGCATACTACCATGCTTGGCTAATTTTTGTAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02559.hp2 HG03139.hp2 others(1): Show HG01070.hp1 HG02559.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0027 a0001c0001t0002g0108 a0001c0001t0002g0109	4	466	0.0086	38	c.64+ others(53): Show c.64+1133_64+1170dupGCATGTGCATACTACCATGCTTGGCTAATT TTTGTATT	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCP11L2_chr12_106297733_106352003	106302405	T T	TCCCCCCG others(31): Show TCCCCCCGCTCAGCCCCCGCTCCCCCCGCTCAGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG02622.hp1 others(1): Show HG01081.hp2 HG02451.hp2 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0006g0047 others(1): Show a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0006g0047 a0001c0001t0006g0274	4	344	0.0116	38	c.-57 others(47): Show c.-572_-571insCCCCCCGCTCAGCCCCCGCTCCCCCCGCTCAGCCCC CG	TCP11L2	ENSG00000166046.11	transcript	ENST00000299045.8	protein_coding		327		chr12	TogoVar
TCTN3_chr10_95658401_95698927	95672160	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01169.hp2 others(13): Show HG00639.hp2 HG00735.hp1 HG01169.hp2 HG01255.hp1 HG01516.hp2 HG02015.hp1 HG02040.hp2 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02965.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0270 a0001c0002t0002g0020 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0096	16	400	0.0400	38	c.159 others(57): Show c.1591-7861_1591-7860insCACACACACACACACACACACACACA CACACACACACA	TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13			chr10	TogoVar
TDP1_chr14_89950927_90049764	89998436	G G	GTATGTAT others(31): Show GTATGTATGTATGTATGTATGTATGTATGTATGTATGTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0194 a0002c0003t0003g0194	1	264	0.0038	38	c.154 others(57): Show c.1541+4960_1541+4961insGTATGTATGTATGTATGTATGTATGT ATGTATATGTAT	TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDRD9_chr14_103923456_104057667	103959455	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0329 a0003c0012t0005g0329	1	372	0.0027	38	c.323 others(55): Show c.323-3598_323-3597insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	418	0.0024	38	c.231 others(53): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATATTTTT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG04115.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0151 a0001c0001t0002g0040 a0001c0001t0002g0151	3	418	0.0072	38	c.231 others(53): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATATATTT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01934.hp2 HG01261.hp2 HG01884.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0156 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0156	3	418	0.0072	38	c.231 others(53): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATATATAT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	206	0.0049	38	c.203 others(57): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	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	12837759	T T	TCTTCTTC others(31): Show TCTTCTTCTTCCTTCTCTTCCTCTTCTTCCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02622.hp2 others(9): Show HG02258.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0002g0021 others(9): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0003g0126 a0001c0001t0006g0025 a0001c0001t0011g0005 a0001c0001t0011g0054 a0001c0001t0012g0028 a0001c0001t0013g0029 a0001c0001t0016g0192 a0001c0001t0023g0057	12	206	0.0583	38	c.203 others(57): Show c.203-24457_203-24456insCTTCCTTCTTCTTCCTTCTCTTCCTC TTCTTCCTTCTT	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(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	206	0.0049	38	c.203 others(57): Show c.203-21988_203-21987insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEKT1_chr17_6792993_6836729	6793184	A A	AAAGAAGA others(31): Show AAAGAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0066 a0004c0005t0006g0066	1	406	0.0025	38	c.68 others(49): Show c.6842_*6843insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TCTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4808		chr17	TogoVar
TENM2_chr5_166974029_168269157	167452950	T T	TATATATA others(31): Show TATATATATTTTAAATATATATATATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0054 a0001c0004t0007g0054	1	54	0.0185	38	c.502 others(57): Show c.502+77485_502+77486insTTTAAATATATATATATATATATATT TTAAATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168036700	T T	TATATGTA others(31): Show TATATGTATGTGTATATATATGTATGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0023 a0001c0018t0003g0023	1	54	0.0185	38	c.118 others(59): Show c.1187-10727_1187-10726insATATGTATGTGTATATATATGTAT GTGTATATATATAC	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	7/30			chr5	TogoVar
TENM3_chr4_182238402_182808024	182432846	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0122 a0001c0043t0001g0122	1	140	0.0071	38	c.511 others(57): Show c.511+85919_511+85920insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	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(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0078 a0001c0003t0002g0078	1	140	0.0071	38	c.511 others(57): Show c.511+85936_511+85937insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0035 a0001c0003 a0001c0035	a0001c0003t0002 a0001c0035t0010 a0001c0003t0002 a0001c0035t0010	a0001c0003t0002g0059 a0001c0035t0010g0139 a0001c0003t0002g0059 a0001c0035t0010g0139	2	140	0.0143	38	c.749 others(55): Show c.749+2624_749+2625insTATATATATATATATATATATATATATA TATATACACA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	79124825	G G	GTATGTGT others(31): Show GTATGTGTGTATATATATACACATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0050 a0001c0007t0050	a0001c0007t0050g0051 a0001c0007t0050g0051	1	94	0.0106	38	c.-66 others(57): Show c.-66+23884_-66+23885insTACATATATATACATATGTGTATATA TATACACACATA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79190791	C C	CTCTCCCT others(31): Show CTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1 HG03492.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0006 a0001c0003t0022 a0001c0002t0004 a0001c0003t0006 a0001c0003t0022	a0001c0002t0004g0004 a0001c0003t0006g0065 a0001c0003t0022g0007 a0001c0002t0004g0004 a0001c0003t0006g0065 a0001c0003t0022g0007	3	94	0.0319	38	c.-16 others(59): Show c.-163+25016_-163+25017insCGGGAGAGGGAGAGGGAGACGGGA GAGGGAGAGGGAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79355555	A A	ACTTGAAC others(31): Show ACTTGAACCCTCTCTGTTCTCTGGAACACACCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01074.hp1 others(14): Show HG00735.hp2 HG00741.hp2 HG01074.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0001c0022 a0001c0032 a0004c0031 a0011c0033	a0001c0001t0008 a0001c0001t0040 a0001c0001t0048 others(12): Show a0001c0001t0008 a0001c0001t0040 a0001c0001t0048 a0001c0002t0062 a0001c0003t0035 a0001c0004t0063 a0001c0005t0002 a0001c0006t0005 a0001c0007t0018 a0001c0012t0029 a0001c0013t0043 a0001c0022t0033 a0001c0032t0023 a0004c0031t0049 a0011c0033t0037	a0001c0001t0008g0013 a0001c0001t0040g0046 a0001c0001t0048g0075 others(14): Show a0001c0001t0008g0013 a0001c0001t0040g0046 a0001c0001t0048g0075 a0001c0002t0062g0092 a0001c0003t0035g0038 a0001c0004t0063g0091 a0001c0005t0002g0032 a0001c0005t0002g0041 a0001c0006t0005g0037 a0001c0007t0018g0090 a0001c0007t0018g0093 a0001c0012t0029g0027 a0001c0013t0043g0073 a0001c0022t0033g0034 a0001c0032t0023g0014 a0004c0031t0049g0072 a0011c0033t0037g0039	17	94	0.1809	38	c.-32 others(59): Show c.-320-58013_-320-58012insAGAAGAAGGTGTGTTCCAGAGAAC AGAGAGGGTTCAAG	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	1/33			chr11	TogoVar
TENT5A_chr6_81740730_81757681	81741179	T T	TATTATAT others(31): Show TATTATATATAATGTGTATCATGTTATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02970.hp1 NA20805.hp2 HG02280.hp2 HG02970.hp1 NA20805.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0005 a0004c0006 a0010c0011 a0001c0005 a0004c0006 a0010c0011	a0001c0005t0013 a0004c0006t0021 a0010c0011t0013 a0001c0005t0013 a0004c0006t0021 a0010c0011t0013	a0001c0005t0013g0052 a0004c0006t0021g0047 a0010c0011t0013g0044 a0001c0005t0013g0052 a0004c0006t0021g0047 a0010c0011t0013g0044	3	446	0.0067	38	c.85 others(49): Show c.8515_*8516insTATATATAATATATAACATGATACACATTATATA TAAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4550		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81752209	G G	GACGCGCG others(31): Show GACGCGCGGCGGCGGAGAGCACGCGCGGCGGCGGAGAGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	446	0.0022	38	c.-37 others(51): Show c.-37-69_-37-32dupGCTCTCCGCCGCCGCGCGTGCTCTCCGCCGCC GCGCGT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding	1/2			chr6	TogoVar

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Search Results (Total: 5880 hits)