Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19067.hp2 NA18939.hp2 NA19067.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0210 a0002c0003t0001g0211	2	48	0.0417	24	c.683 others(41): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0216 a0002c0003t0001g0216	1	47	0.0213	24	c.683 others(41): Show c.683+4044_683+4045insTCTTTCTTTCTTCCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98209756	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 NA21309.hp2 HG01891.hp2 HG03225.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0103 a0001c0001t0001g0110 a0003c0004t0003g0049 a0001c0001t0001g0103 a0001c0001t0001g0110 a0003c0004t0003g0049	3	125	0.0240	24	c.167 others(41): Show c.1674-636_1674-613dupGGAAGGAAGGAAGGAAGGAAGGAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	8/12			chr9	TogoVar
TBC1D4_chr13_75278503_75487169	75404059	T T	TATATACA others(17): Show TATATACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG03195.hp2 HG02572.hp2 HG02622.hp1 HG03195.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0007 a0001c0005 a0002c0002 a0003c0007	a0001c0005t0003 a0002c0002t0005 a0003c0007t0003 a0001c0005t0003 a0002c0002t0005 a0003c0007t0003	a0001c0005t0003g0184 a0002c0002t0005g0185 a0003c0007t0003g0083 a0001c0005t0003g0184 a0002c0002t0005g0185 a0003c0007t0003g0083	3	136	0.0221	24	c.499 others(43): Show c.499-41453_499-41452insGTGTGTGTGTGTGTGTATGTATAT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17284089	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	26	0.0385	24	c.124 others(43): Show c.1245+7782_1245+7805dupGTGTGTGTGTGTGTGTGTGTGTGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17284111	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0144 a0001c0001t0007g0144	1	148	0.0068	24	c.124 others(43): Show c.1245+7783_1245+7784insATGTGTGTGTGTGTGTGTGTGTGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17484455	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	64	0.0156	24	c.97+ others(41): Show c.97+23995_97+24018dupACACACACACACACACACACACAC	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17533889	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp2 HG03942.hp1 others(2): Show HG03041.hp1 HG03139.hp2 HG03942.hp1 HG04184.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001	a0001c0001t0002g0161 a0001c0001t0003g0023 a0001c0001t0005g0003 others(2): Show a0001c0001t0002g0161 a0001c0001t0003g0023 a0001c0001t0005g0003 a0001c0001t0008g0022 a0002c0002t0001g0154	5	135	0.0370	24	c.-35 others(43): Show c.-35-25308_-35-25285dupATCTATCTATCTATCTATCTATCT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17732720	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01261.hp1 others(13): Show HG00639.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp1 HG02523.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03669.hp2 HG04228.hp1 NA18975.hp1 NA18999.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0003t0002 a0001c0003t0004 a0001c0006t0005 a0002c0002t0001	a0001c0001t0001g0155 a0001c0001t0002g0026 a0001c0001t0002g0037 others(13): Show a0001c0001t0001g0155 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0012g0001 a0001c0001t0014g0049 a0001c0003t0002g0046 a0001c0003t0004g0043 a0001c0006t0005g0083 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042	16	85	0.1882	24	c.-10 others(43): Show c.-101+9737_-101+9760dupATTTATTTATTTATTTATTTATTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	199	0.0050	24	c.520 others(41): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8B_chrX_106797673_106881150	106800407	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	128	0.0078	24	c.-24 others(35): Show c.-2447_-2446insGTGTGTGTGTGTGTGTGTGTGTGT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding		2265		chrX	TogoVar
TBC1D8B_chrX_106797673_106881150	106872455	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0005c0005t0001	a0001c0002t0001g0166 a0001c0002t0002g0165 a0001c0002t0004g0158 others(1): Show a0001c0002t0001g0166 a0001c0002t0002g0165 a0001c0002t0004g0158 a0005c0005t0001g0161	4	12	0.3333	24	c.296 others(43): Show c.2968-1105_2968-1082dupATATATATATATATATATATATAT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding	20/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTCTT others(17): Show CTTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	209	0.0048	24	c.403 others(39): Show c.403-337_403-336insAAAAAAAAAAAAAAAAAAAGAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101095249	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01358.hp1 others(7): Show HG01168.hp2 HG01169.hp1 HG01358.hp1 HG02559.hp1 HG02647.hp2 HG02886.hp2 HG06807.hp1 NA18990.hp2 NA19011.hp2 NA19060.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0002c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0007 a0004c0005t0001	a0001c0001t0001g0096 a0001c0001t0001g0127 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0005g0097 a0002c0003t0007g0101 a0004c0005t0001g0276 a0004c0005t0001g0281 a0004c0005t0001g0285	10	147	0.0680	24	c.128 others(41): Show c.128-4886_128-4885insTAATAATAATAATAATAATAATAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	1/19			chr2	TogoVar
TBC1D9_chr4_140615782_140761385	140687342	T T	TGTGTGTC others(17): Show TGTGTGTCATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	268	0.0037	24	c.242 others(39): Show c.242-881_242-880insTATATATATATATATATGACACAC	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	2/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140712449	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0165 a0001c0002t0006g0165	1	45	0.0222	24	c.131 others(43): Show c.131-10836_131-10835insATATATATATATATATATATATAT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCA_chr5_77686166_77781339	77752608	G G	GACTGCAG others(17): Show GACTGCAGTGGCGCAACCTCGGCTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02572.hp1 HG03453.hp1 others(1): Show HG01168.hp1 HG02572.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0004g0044	4	352	0.0114	24	c.53+ others(41): Show c.53+23596_53+23597insGAGCCGAGGTTGCGCCACTGCAGT	TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3			chr5	TogoVar
TBCB_chr19_36110468_36130941	36126727	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA19080.hp2 NA18979.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0001g0007 a0001c0001t0001g0133	2	132	0.0152	24	c.94 others(33): Show c.945_*946insAAAAAAAAAAAAAAAAAAAAAAAA	TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding		787		chr19	TogoVar
TBCD_chr17_82747065_82950914	82844206	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01516.hp2 others(20): Show HG00621.hp2 HG01074.hp1 HG01516.hp2 HG02055.hp1 HG02083.hp2 HG02257.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG03041.hp1 HG03209.hp1 HG03540.hp2 HG04115.hp2 NA18940.hp1 NA18962.hp2 NA18967.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19063.hp2 NA19070.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0031 a0002c0007 a0002c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0009t0008 a0001c0031t0002 a0002c0007t0005 a0002c0007t0035 a0002c0008t0007	a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0037 others(20): Show a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0006g0055 a0001c0001t0006g0078 a0001c0001t0016g0015 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0002g0025 a0001c0002t0002g0052 a0001c0002t0002g0071 a0001c0009t0008g0056 a0001c0031t0002g0075 a0002c0007t0005g0090 a0002c0007t0035g0004 a0002c0008t0007g0140 a0002c0008t0007g0147 a0002c0008t0007g0154 a0002c0008t0007g0157	23	38	0.6053	24	c.131 others(45): Show c.1319-26011_1319-25988dupGTGTGTGTGTGTGTGTGTGTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82887168	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0197 a0003c0004t0004g0197	1	187	0.0053	24	c.153 others(43): Show c.1534-2499_1534-2498insTGTGTGTGTGCGCGCGCGCGCGCG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82899197	C C	CGTGTCCG others(17): Show CGTGTCCGCAGTGCGTCCTCAGCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG03516.hp1 HG02486.hp2 HG02717.hp2 HG03516.hp1	a0002 a0002	a0002c0007 a0002c0011 a0002c0043 a0002c0007 a0002c0011 a0002c0043	a0002c0007t0035 a0002c0011t0002 a0002c0043t0036 a0002c0007t0035 a0002c0011t0002 a0002c0043t0036	a0002c0007t0035g0004 a0002c0011t0002g0002 a0002c0043t0036g0001 a0002c0007t0035g0004 a0002c0011t0002g0002 a0002c0043t0036g0001	3	316	0.0095	24	c.165 others(43): Show c.1650-1447_1650-1424dupGCAGTGCGTCCTCAGCATGTGTCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	17/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82940221	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	73	0.0137	24	c.347 others(41): Show c.3479+747_3479+770dupACACACACACACACACACACACAC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	37/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82946569	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01358.hp2 HG03130.hp2 others(1): Show HG00423.hp2 HG01358.hp2 HG03130.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0002c0012 others(1): Show a0001c0002 a0002c0006 a0002c0012 a0002c0025	a0001c0002t0002 a0002c0006t0005 a0002c0012t0008 others(1): Show a0001c0002t0002 a0002c0006t0005 a0002c0012t0008 a0002c0025t0002	a0001c0002t0002g0072 a0002c0006t0005g0282 a0002c0012t0008g0171 others(1): Show a0001c0002t0002g0072 a0002c0006t0005g0282 a0002c0012t0008g0171 a0002c0025t0002g0131	4	98	0.0408	24	c.41 others(35): Show c.4106_*4107insGTGTGTGTGTGTGTGTGTGTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		656		chr17	TogoVar
TBCE_chr1_235362427_235457443	235428631	C C	CTTTATTT others(17): Show CTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	79	0.0127	24	c.560 others(41): Show c.560+1400_560+1423dupATTTATTTATTTATTTATTTATTT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCK_chr4_106036599_106321209	106197411	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0008 a0001c0004t0014g0010 a0001c0004t0014g0008 a0001c0004t0014g0010	2	101	0.0198	24	c.186 others(43): Show c.1861-2658_1861-2657insTATATATATATATATATATATACA	TBCK	ENSG00000145348.17	transcript	ENST00000394708.7	protein_coding	20/25			chr4	TogoVar
TBKBP1_chr17_47689161_47717052	47700289	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18993.hp2 NA19009.hp2 NA18948.hp2 NA18993.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0003t0001g0168 a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0003t0001g0168	3	99	0.0303	24	c.872 others(39): Show c.872+596_872+619dupTTTTTTTTTTTTTTTTTTTTTTTT	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177017422	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03927.hp2 HG02257.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0061 a0001c0001t0018g0206 a0001c0001t0010g0061 a0001c0001t0018g0206	2	83	0.0241	24	c.80 others(35): Show c.8075_*8076insAAAAAAAAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding		1921		chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02735.hp2 others(5): Show HG01516.hp2 HG01517.hp2 HG02735.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 NA18962.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0033	a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0173 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0173 a0001c0001t0008g0036 a0001c0001t0008g0208 a0001c0001t0009g0127 a0001c0001t0018g0206 a0001c0001t0033g0027	8	15	0.5333	24	c.-46 others(43): Show c.-46+15704_-46+15727dupTATATATATATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02148.hp1 others(4): Show HG01515.hp2 HG01517.hp1 HG02148.hp1 HG02630.hp2 HG03579.hp1 HG03579.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0049	a0001c0001t0002g0120 a0001c0001t0002g0157 a0001c0001t0002g0174 others(4): Show a0001c0001t0002g0120 a0001c0001t0002g0157 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0006g0155 a0001c0001t0016g0264 a0001c0001t0049g0168	7	14	0.5000	24	c.-46 others(43): Show c.-46+15727_-46+15728insTATATATATATATATATATATAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082767	T T	TATATATA others(17): Show TATATATATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0280 a0001c0001t0011g0280	1	304	0.0033	24	c.-46 others(43): Show c.-46+15698_-46+15699insTCATATATATATATATATATATAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177096331	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0221 a0001c0001t0009g0221	1	218	0.0046	24	c.-46 others(41): Show c.-46+2134_-46+2135insGTGTGTGTGTGTGTGTGTGTGTGT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112074	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	234	0.0043	24	c.-12 others(45): Show c.-121-13557_-121-13534dupATATATATATATATATATATATAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	161	0.0062	24	c.-12 others(45): Show c.-121-13567_-121-13566insAAAAAATATATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0111 a0001c0001t0046g0111	1	161	0.0062	24	c.-12 others(45): Show c.-121-13567_-121-13566insAAAAAAAAAATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177134945	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp2 HG00639.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0013 a0001c0001t0026	a0001c0001t0013g0089 a0001c0001t0026g0082 a0001c0001t0013g0089 a0001c0001t0026g0082	2	201	0.0100	24	c.-12 others(45): Show c.-121-36405_-121-36404insCACACACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177134969	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	252	0.0040	24	c.-12 others(45): Show c.-121-36429_-121-36428insGACACACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177134971	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01175.hp2 others(2): Show HG01081.hp1 HG01167.hp1 HG01175.hp2 HG02148.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0115 others(2): Show a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0014g0232	5	214	0.0234	24	c.-12 others(45): Show c.-121-36431_-121-36430insGACACACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177135333	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTATACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	129	0.0078	24	c.-12 others(45): Show c.-121-36793_-121-36792insTGTATACACACACACACACACACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177146589	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03098.hp1 HG00735.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0292 a0001c0001t0031g0255 a0001c0001t0001g0292 a0001c0001t0031g0255	2	89	0.0225	24	c.-12 others(45): Show c.-121-48049_-121-48048insTTTTTTTTTTTTTTTTTTTTTTTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177189649	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	224	0.0045	24	c.-12 others(43): Show c.-122+7471_-122+7472insTTTTTTTTTTTTTTTTTTTTTTTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1X_chrX_9460058_9724740	9479937	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0006 a0002c0007t0017 a0001c0001t0006 a0002c0007t0017	a0001c0001t0006g0193 a0002c0007t0017g0138 a0001c0001t0006g0193 a0002c0007t0017g0138	2	186	0.0108	24	c.-20 others(45): Show c.-201+14490_-201+14491insGTGTGTGTGTGTGTGTGTGTGTGT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17			chrX	TogoVar
TBL1X_chrX_9460058_9724740	9479938	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18970.hp1 HG02818.hp2 NA18970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0007 a0001c0001t0001 a0003c0009t0007	a0001c0001t0001g0082 a0003c0009t0007g0074 a0001c0001t0001g0082 a0003c0009t0007g0074	2	96	0.0208	24	c.-20 others(45): Show c.-201+14495_-201+14518dupGTGTGTGTGTGTGTGTGTGTGTGT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9622203	C C	CCATTGTA others(17): Show CCATTGTAAGCATACAGTTCAGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0060 a0001c0001t0017g0060	1	197	0.0051	24	c.-13 others(45): Show c.-130-18065_-130-18042dupGTAAGCATACAGTTCAGTGGCATT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9665488	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	194	0.0052	24	c.211 others(43): Show c.211+11166_211+11167insATATATATATATATATATATATAT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	5/17			chrX	TogoVar
TBL1X_chrX_9460058_9724740	9665489	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02083.hp1 HG03239.hp1 others(4): Show HG01515.hp1 HG02083.hp1 HG03239.hp1 HG03239.hp2 NA18994.hp1 NA19067.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026	a0001c0001t0001g0150 a0001c0001t0001g0178 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0178 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0003g0111 a0001c0001t0004g0141 a0001c0001t0026g0075	7	20	0.3500	24	c.211 others(43): Show c.211+11194_211+11217dupTATATATATATATATATATATATA	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	5/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9665538	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	196	0.0051	24	c.211 others(43): Show c.211+11217_211+11218insTATATATATATATATATATATAAA	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	5/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9722840	G G	GTGCTGCC others(17): Show GTGCTGCCCACACCCCGATACTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0067 a0001c0003t0018g0067	1	197	0.0051	24	c.65 others(35): Show c.6594_*6595insTGCTGCCCACACCCCGATACTGGA	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding		3101		chrX	TogoVar
TBPL1_chr6_133948224_133995432	133987648	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0217 a0001c0001t0053g0217	1	290	0.0034	24	c.60 others(33): Show c.609_*610insGTATATATATATATATATATATAT	TBPL1	ENSG00000028839.10	transcript	ENST00000237264.9	protein_coding	7/7	610	INFO_REALIGN_3_PRIME	chr6	TogoVar
TBR1_chr2_161411297_161430870	161418096	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	91	0.0110	24	c.848 others(37): Show c.848-93_848-70dupGTGTGTGTGTGTGTGTGTGTGTGT	TBR1	ENSG00000136535.15	transcript	ENST00000389554.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
TBRG1_chr11_124617864_124640926	124636481	A A	ACGCGCCT others(17): Show ACGCGCCTGATCTCATCTGATCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA19074.hp2 NA18984.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0108 a0001c0001t0001g0014 a0001c0001t0001g0108	2	460	0.0043	24	c.42 others(35): Show c.4243_*4244insCGCGCCTGATCTCATCTGATCTCG	TBRG1	ENSG00000154144.13	transcript	ENST00000441174.8	protein_coding		556		chr11	TogoVar

Search by Variant

Search

Search Results