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
TTF1_chr9_132370548_132411840	132378629	T T	TGTGTGTG others(27): Show TGTGTGTGAGTGCATGTGGTGTGTGTGAATGCATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0222 a0001c0009t0001g0222	1	393	0.0025	34	c.246 others(51): Show c.2464+429_2464+430insCATGCATTCACACACACCACATGCACTC ACACAC	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTK_chr6_79999649_80047527	80000135	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	104	0.0096	34	c.-45 others(45): Show c.-4581_-4580insTATATATATATATATATATATATATATATATATT	TTK	ENSG00000112742.10	transcript	ENST00000369798.7	protein_coding		4513		chr6	TogoVar
TTLL11_chr9_121810674_122098308	121826511	A A	ATGTATAT others(27): Show ATGTATATATATGTGTGTGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG01106.hp2 others(11): Show HG00597.hp1 HG01071.hp2 HG01106.hp2 HG01952.hp2 HG02523.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp1 NA18968.hp2 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0003 a0005c0004 others(1): Show a0001c0001 a0002c0003 a0005c0004 a0006c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0043 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0043 a0001c0001t0049 a0001c0001t0050 a0002c0003t0003 a0005c0004t0003 a0006c0018t0048	a0001c0001t0002g0130 a0001c0001t0003g0071 a0001c0001t0003g0089 others(11): Show a0001c0001t0002g0130 a0001c0001t0003g0071 a0001c0001t0003g0089 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0003g0135 a0001c0001t0043g0122 a0001c0001t0049g0094 a0001c0001t0050g0129 a0002c0003t0003g0015 a0002c0003t0003g0016 a0005c0004t0003g0030 a0006c0018t0048g0174	14	157	0.0892	34	c.184 others(53): Show c.1841-3633_1841-3632insCACATATATATATACACACACACATA TATATACA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8			chr9	TogoVar
TTLL3_chr3_9805262_9841365	9840687	G G	GCCCTACC others(27): Show GCCCTACCCCACCCCCACCTAGGAACCTCCCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	398	0.0025	34	c.51 others(45): Show c.5198_*5199insCCCTACCCCACCCCCACCTAGGAACCTCCCCAGC	TTLL3	ENSG00000214021.18	transcript	ENST00000685419.1	protein_coding		4323		chr3	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	61	0.0164	34	c.382 others(55): Show c.3823+11810_3823+11811insAAAAAAAAAAAATATATATATATA TATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03195.hp1 HG01081.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0098 a0002c0005t0001g0091 a0001c0002t0001g0098 a0002c0005t0001g0091	2	62	0.0323	34	c.382 others(55): Show c.3823+11810_3823+11811insAAAATATATATATATATATATATA TATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75928342	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	29	0.0345	34	c.382 others(55): Show c.3824-26056_3824-26055insATATATATATATATATATATATAT ATATATATAT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL7_chr1_83860024_84004132	83892393	A A	AATATATA others(27): Show AATATATATGAATATATATACGAATATATATGAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01099.hp1 others(43): Show HG00558.hp2 HG00673.hp1 HG01099.hp1 HG01106.hp1 HG01169.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02040.hp2 HG02080.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03491.hp1 HG03710.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18959.hp1 NA18966.hp2 NA18970.hp1 NA18984.hp1 NA18992.hp1 NA19001.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 a0001c0001 a0001c0006 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0006t0002 a0001c0010t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0135 others(41): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0135 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0199 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0003g0137 a0001c0001t0006g0190 a0001c0001t0007g0220 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0024g0226 a0001c0001t0028g0227 a0001c0001t0029g0222 a0001c0006t0002g0181 a0001c0010t0002g0136	46	239	0.1925	34	c.220 others(53): Show c.2209-1913_2209-1912insGTTCATATATATTCGTATATATATTC ATATATAT	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892719	T T	TATATGAG others(27): Show TATATGAGCGCATATGTGAACATATATATGAGCGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	295	0.0034	34	c.220 others(53): Show c.2209-2239_2209-2238insGCGCTCATATATATGTTCACATATGC GCTCATAT	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892952	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	175	0.0057	34	c.220 others(53): Show c.2209-2472_2209-2471insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL9_chr20_31865634_31950000	31887904	T T	TTCTCTTC others(27): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0037 a0001c0001t0003g0011 a0001c0001t0003g0037	2	258	0.0078	34	c.113 others(49): Show c.113+666_113+667insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTN_chr2_178520989_178812423	178623353	T T	TACTAATT others(27): Show TACTAATTGCTTTAGTACAAAAGCAATTGTACTAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 NA19002.hp1 others(1): Show HG00438.hp2 HG00609.hp2 NA19002.hp1 NA19054.hp2	a0006 a0031 a0163 a0006 a0031 a0163	a0006c0013 a0031c0062 a0163c0166 a0006c0013 a0031c0062 a0163c0166	a0006c0013t0003 a0031c0062t0001 a0163c0166t0003 a0006c0013t0003 a0031c0062t0001 a0163c0166t0003	a0006c0013t0003g0177 a0006c0013t0003g0180 a0031c0062t0001g0178 others(1): Show a0006c0013t0003g0177 a0006c0013t0003g0180 a0031c0062t0001g0178 a0163c0166t0003g0049	4	240	0.0167	34	c.448 others(53): Show c.44816-587_44816-586insTTAGTACAATTGCTTTTGTACTAAAG CAATTAGT	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	242/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02976.hp2 HG03139.hp1 others(1): Show HG00735.hp1 HG02976.hp2 HG03139.hp1 NA19010.hp2	a0017 a0040 a0116 others(1): Show a0017 a0040 a0116 a0169	a0017c0024 a0040c0209 a0116c0198 others(1): Show a0017c0024 a0040c0209 a0116c0198 a0169c0181	a0017c0024t0001 a0040c0209t0001 a0116c0198t0001 others(1): Show a0017c0024t0001 a0040c0209t0001 a0116c0198t0001 a0169c0181t0002	a0017c0024t0001g0056 a0040c0209t0001g0074 a0116c0198t0001g0044 others(1): Show a0017c0024t0001g0056 a0040c0209t0001g0074 a0116c0198t0001g0044 a0169c0181t0002g0016	4	77	0.0519	34	c.342 others(51): Show c.34292-49_34292-48insATATATATATATATATATATATATATAT ATATAT	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362			chr2	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0300 a0001c0014t0001g0300	1	277	0.0036	34	c.130 others(51): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02135.hp2 NA18612.hp1 others(2): Show HG00544.hp2 HG02135.hp2 NA18612.hp1 NA18612.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	164	0.0305	34	c.42 others(45): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		4024		chr12	TogoVar
TUBB2B_chr6_3219277_3232653	3222092	C C	CCACCACC others(27): Show CCACCACCACTAGCACAACCACAACACTACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	155	0.0065	34	c.26 others(45): Show c.2658_*2659insATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2184		chr6	TogoVar
TUBGCP3_chr13_112480011_112593153	112578558	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0259 a0001c0004t0001g0259	1	114	0.0088	34	c.77- others(49): Show c.77-9300_77-9299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	1/21			chr13	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03209.hp1 HG03654.hp1 others(4): Show HG00621.hp1 HG03209.hp1 HG03654.hp1 HG03688.hp1 NA18948.hp2 NA18960.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0003g0283 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0117	7	170	0.0412	34	c.175 others(51): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ATATAT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATGTA others(27): Show GATATGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp1 HG02630.hp2 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0260 a0002c0005t0002g0265 a0002c0004t0002g0260 a0002c0005t0002g0265	2	165	0.0121	34	c.175 others(51): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ACATAT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016986	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	328	0.0030	34	c.175 others(51): Show c.1756+786_1756+787insCATATATATATATATATATATATATATA TATATA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUFM_chr16_28837411_28851348	28845707	G G	GTGATCCC others(27): Show GTGATCCCCAAGCCATTGGTGGATCACAAAGTTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0016 a0001c0002t0004g0016	1	394	0.0025	34	c.247 others(49): Show c.247+171_247+204dupAGAACTTTGTGATCCACCAATGGCTTGGGG ATCA	TUFM	ENSG00000178952.11	transcript	ENST00000313511.8	protein_coding	2/9			chr16	TogoVar
TULP4_chr6_158307465_158516828	158331733	G G	GTGTATAT others(27): Show GTGTATATATACACGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03017.hp2 HG00280.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0035 a0001c0001t0006 a0001c0002t0035	a0001c0001t0006g0187 a0001c0002t0035g0188 a0001c0001t0006g0187 a0001c0002t0035g0188	2	124	0.0161	34	c.252 others(53): Show c.252+17466_252+17467insGTATATATACACGTATATATATATAT ATATATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18978.hp2 NA19070.hp1 HG02630.hp2 NA18978.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0033 a0001c0001t0008 a0001c0001t0033	a0001c0001t0008g0176 a0001c0001t0033g0083 a0001c0001t0033g0084 a0001c0001t0008g0176 a0001c0001t0033g0083 a0001c0001t0033g0084	3	94	0.0319	34	c.859 others(51): Show c.859+1241_859+1242insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUNAR_chr14_95871832_95930571	95881900	T T	TCTTCACC others(27): Show TCTTCACCAGCAGTTGAAAATGCTTCTGTCTCTGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	336	0.0030	34	c.12+ others(49): Show c.12+4725_12+4758dupTTCACCAGCAGTTGAAAATGCTTCTGTCTC TGAC	TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
TUSC3_chr8_15535263_15771638	15617120	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG03540.hp2 HG02559.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0113 a0001c0001t0004g0235 a0001c0001t0008g0135 a0001c0001t0004g0113 a0001c0001t0004g0235 a0001c0001t0008g0135	3	95	0.0316	34	c.139 others(51): Show c.139-5947_139-5946insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15648725	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	38	0.0263	34	c.309 others(51): Show c.309-1941_309-1940insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUT4_chr1_52418275_52558092	52444947	A A	ATATGTGT others(27): Show ATATGTGTGTATATACATGTATATACATGTATATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02809.hp1 others(2): Show HG02280.hp1 HG02630.hp1 HG02809.hp1 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200	5	113	0.0442	34	c.382 others(51): Show c.3822+839_3822+840insCATATACATGTATATACATGTATATACA CACATA	TUT4	ENSG00000134744.14	transcript	ENST00000257177.9	protein_coding	24/29			chr1	TogoVar
TVP23A_chr16_10761675_10823794	10820478	A A	ATATGTAT others(27): Show ATATGTATATGTATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0252 a0001c0001t0005g0252	1	167	0.0060	34	c.-19 others(45): Show c.-1986_-1985insCATATACATATATATATATATATACATATACATA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1685		chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870357	A A	ACACACAC others(27): Show ACACACACCACACACCCCACACACACCACACAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18986.hp2 HG02965.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0047 a0001c0001t0001g0097	2	241	0.0083	34	c.35 others(53): Show c.35+21631_*35+21632insCACACACCCCACACACACCACACAAA CCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870447	C C	CACACCAC others(27): Show CACACCACACCCCCACACCCCCCCCACACCACACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	291	0.0034	34	c.35 others(53): Show c.35+21714_*35+21715insACACCACACCCCCACACCCCCCCCAC ACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870698	C C	CACATACC others(27): Show CACATACCACACACCCGACACACGCCACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00609.hp2 others(35): Show HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG01167.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02135.hp2 HG02523.hp2 HG03490.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 others(34): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0301 a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0083 a0001c0001t0002g0116 a0001c0001t0002g0158 a0001c0001t0002g0294	38	300	0.1267	34	c.35 others(53): Show c.35+21965_*35+21966insACATACCACACACCCGACACACGCCA CACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02922.hp2 NA18974.hp1 HG00323.hp2 HG02922.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0185 a0001c0001t0004g0128 a0001c0001t0007g0064 a0001c0001t0001g0185 a0001c0001t0004g0128 a0001c0001t0007g0064	3	13	0.2308	34	c.864 others(51): Show c.864+1083_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNL1_chr18_56592209_56643592	56626734	T T	TGATCCAC others(27): Show TGATCCACCTGCCTTGGCCCCTCCCAAAGTGCTGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02647.hp2 HG03098.hp1 others(2): Show HG00735.hp2 HG02647.hp2 HG03098.hp1 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0060 a0001c0002t0006 a0001c0002t0060	a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0158 others(2): Show a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0060g0160	5	340	0.0147	34	c.99- others(47): Show c.99-311_99-278dupCCAGCACTTTGGGAGGGGCCAAGGCAGGTGGA TC	TXNL1	ENSG00000091164.13	transcript	ENST00000217515.11	protein_coding	1/7			chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79988580	A A	ACGCCGTG others(27): Show ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG06807.hp1 NA18522.hp2 HG02723.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0006 a0001c0001t0004g0080 a0001c0001t0004g0101 a0001c0001t0002g0006 a0001c0001t0004g0080 a0001c0001t0004g0101	3	385	0.0078	34	c.-22 others(43): Show c.-222_-189dupCTAGCGCGCGCGCATGCCGTCAGCACGCACGGCG	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		18		chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104254642	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0119 a0001c0005t0001g0119	1	295	0.0034	34	c.243 others(51): Show c.243+2965_243+2966insTATATATATATATATATATATATATATA TATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(27): Show CACACACACACACACACTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	314	0.0032	34	c.190 others(49): Show c.190-776_190-775insTATATATATATATATATAGTGTGTGTGTGT GTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(27): Show CACACACACACTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	314	0.0032	34	c.190 others(49): Show c.190-776_190-775insTATATATATATATATATATATATAGTGTGT GTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(27): Show CACACACACTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp2 HG01943.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0192 a0001c0001t0001g0042 a0001c0001t0001g0192	2	315	0.0063	34	c.190 others(49): Show c.190-776_190-775insTATATATATATATATATATATATATAGTGT GTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03834.hp2 HG02083.hp2 HG03834.hp2	a0003 a0003	a0003c0004 a0003c0014 a0003c0004 a0003c0014	a0003c0004t0001 a0003c0014t0002 a0003c0004t0001 a0003c0014t0002	a0003c0004t0001g0090 a0003c0014t0002g0067 a0003c0004t0001g0090 a0003c0014t0002g0067	2	303	0.0066	34	c.194 others(51): Show c.194-4041_194-4040insTATATATATATATATATATATATATATA TATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0058 a0003c0004t0002g0059 a0003c0004t0002g0058 a0003c0004t0002g0059	2	170	0.0118	34	c.194 others(51): Show c.194-4067_194-4066insAATATATATATATATATATATATATATA TATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYW1B_chr7_72569513_72833200	72645961	T T	TTATATAT others(27): Show TTATATATTATATATATTACATATGTTATATGTTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	284	0.0035	34	c.150 others(55): Show c.1507-16998_1507-16965dupTAACATATAACATATGTAATATAT ATAATATATA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
U2AF1L4_chr19_35737527_35750418	35749130	C C	CGATCCTC others(27): Show CGATCCTCCCGCCTTAGCCTCCCAAAGTGCTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	402	0.0025	34	c.-37 others(45): Show c.-3773_-3740dupTCTCAGCACTTTGGGAGGCTAAGGCGGGAGGATC	U2AF1L4	ENSG00000161265.15	transcript	ENST00000378975.8	protein_coding		3713		chr19	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp2 HG01243.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0002 a0003c0006t0002 a0001c0003t0002 a0003c0006t0002	a0001c0003t0002g0215 a0003c0006t0002g0029 a0001c0003t0002g0215 a0003c0006t0002g0029	2	260	0.0077	34	c.79- others(47): Show c.79-642_79-641insTATATACATATATATATATATATATATATATA TA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0005 a0013c0019t0005	a0013c0019t0005g0291 a0013c0019t0005g0291	1	259	0.0039	34	c.79- others(47): Show c.79-642_79-641insTATATATACATATATATATATATATATATATA TA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(27): Show TATATATATGTATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 NA18522.hp1 HG02896.hp2 HG02922.hp1 NA18522.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0005 a0003c0006t0002 a0003c0006t0005	a0003c0006t0002g0028 a0003c0006t0005g0252 a0003c0006t0005g0290 a0003c0006t0002g0028 a0003c0006t0005g0252 a0003c0006t0005g0290	3	266	0.0113	34	c.79- others(47): Show c.79-659_79-658insGTATATATATATATATATATATATACATATAT AT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02683.hp1 HG03490.hp1 HG03492.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0036 a0001c0003t0002g0034 a0001c0003t0002g0035 others(1): Show a0001c0001t0001g0036 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0042	4	248	0.0161	34	c.79- others(51): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT ATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAATTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03490.hp2 HG03710.hp2 others(4): Show HG00673.hp2 HG03490.hp2 HG03710.hp2 NA19001.hp1 NA19030.hp2 NA19062.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0217 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0217 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0003t0001g0200 a0001c0004t0001g0142	7	113	0.0619	34	c.78+ others(51): Show c.78+28182_78+28183insTTTTTTTTTTTTGAGAATTTTTTTTTTT TTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	90	0.0111	34	c.124 others(53): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA TATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GAGATAGA others(27): Show GAGATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02602.hp2 HG00673.hp1 HG01109.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0323 a0001c0001t0003g0093 a0001c0001t0012g0324 a0001c0001t0002g0323 a0001c0001t0003g0093 a0001c0001t0012g0324	3	203	0.0148	34	c.32- others(49): Show c.32-6027_32-6026insGATAGATATATATATATATATATATATATA TATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18961.hp2 NA18965.hp1 others(6): Show HG04184.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18983.hp2 NA19054.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061	9	209	0.0431	34	c.32- others(49): Show c.32-6023_32-6022insTATATATATATATATATATATATATATATA TATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results