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
TIAM1_chr21_31113418_31349261	31222705	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0020 a0002c0003t0003g0020	1	161	0.0062	18	c.199 others(35): Show c.1995+700_1995+701insAAAAAAAAAAAAAAAAAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0001 a0002c0003t0015g0001	1	117	0.0085	18	c.199 others(35): Show c.1995+681_1995+698dupAAAAAAAAAAAAAAAAAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31256588	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG03225.hp1 others(1): Show HG02965.hp2 HG03130.hp2 HG03225.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0009 a0001c0001t0014 a0001c0002t0004 others(1): Show a0001c0001t0009 a0001c0001t0014 a0001c0002t0004 a0002c0003t0003	a0001c0001t0009g0093 a0001c0001t0014g0046 a0001c0002t0004g0094 others(1): Show a0001c0001t0009g0093 a0001c0001t0014g0046 a0001c0002t0004g0094 a0002c0003t0003g0014	4	13	0.3077	18	c.964 others(35): Show c.964-4417_964-4400dupGTGTGTGTGTGTGTGTGT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	4/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31298735	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0067 a0001c0002t0007g0067	1	67	0.0149	18	c.-18 others(39): Show c.-188-21845_-188-21828dupACACACACACACACACAC	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	2/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31315679	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0004 a0003c0005t0004 a0001c0002t0004 a0003c0005t0004	a0001c0002t0004g0088 a0003c0005t0004g0097 a0001c0002t0004g0088 a0003c0005t0004g0097	2	49	0.0408	18	c.-18 others(39): Show c.-189+23546_-189+23563dupTTTTTTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	2/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31337518	G G	GTTATTAT others(11): Show GTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02559.hp1 others(1): Show HG02109.hp1 HG02451.hp2 HG02559.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0002t0007 a0001c0002t0012 others(1): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0012 a0001c0009t0017	a0001c0002t0004g0092 a0001c0002t0007g0085 a0001c0002t0012g0086 others(1): Show a0001c0002t0004g0092 a0001c0002t0007g0085 a0001c0002t0012g0086 a0001c0009t0017g0091	4	105	0.0381	18	c.-18 others(37): Show c.-189+1707_-189+1724dupTAATAATAATAATAATAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	2/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	154991590	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG04228.hp1 others(1): Show HG02809.hp2 HG03139.hp1 HG04228.hp1 NA19066.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0008c0013	a0001c0002t0005 a0001c0004t0007 a0001c0005t0038 others(1): Show a0001c0002t0005 a0001c0004t0007 a0001c0005t0038 a0008c0013t0009	a0001c0002t0005g0218 a0001c0004t0007g0225 a0001c0005t0038g0069 others(1): Show a0001c0002t0005g0218 a0001c0004t0007g0225 a0001c0005t0038g0069 a0008c0013t0009g0071	4	80	0.0500	18	c.-41 others(29): Show c.-4111_-4110insTTATTATTATTATTATTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding		3724		chr6	TogoVar
TIAM2_chr6_154990315_155262723	155013917	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18969.hp1 HG02965.hp2 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0042 a0001c0002 a0001c0042	a0001c0002t0003 a0001c0042t0006 a0001c0002t0003 a0001c0042t0006	a0001c0002t0003g0054 a0001c0042t0006g0048 a0001c0002t0003g0054 a0001c0042t0006g0048	2	36	0.0556	18	c.-20 others(39): Show c.-209+18444_-209+18461dupACACACACACACACACAC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155016515	G G	GGTAAATT others(11): Show GGTAAATTTAAATGTAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0093 a0001c0007t0001g0093	1	228	0.0044	18	c.-20 others(39): Show c.-209+21026_-209+21027insAATTTAAATGTAAATGTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155059321	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG02300.hp1 others(7): Show HG00639.hp1 HG00735.hp2 HG02300.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG03834.hp1 NA18951.hp2 NA19056.hp2 NA19082.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0031 a0022c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0006 a0001c0005t0038 a0002c0003t0003 a0002c0003t0005 a0002c0003t0009 a0002c0031t0020 a0022c0025t0003	a0001c0001t0001g0172 a0001c0002t0001g0089 a0001c0002t0003g0144 others(7): Show a0001c0001t0001g0172 a0001c0002t0001g0089 a0001c0002t0003g0144 a0001c0005t0006g0009 a0001c0005t0038g0069 a0002c0003t0003g0158 a0002c0003t0005g0194 a0002c0003t0009g0024 a0002c0031t0020g0198 a0022c0025t0003g0046	10	209	0.0478	18	c.-20 others(39): Show c.-208-30963_-208-30962insTGTGTGTGCGCGCGTGTG	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155114036	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0009 a0004c0011t0009	a0004c0011t0009g0160 a0004c0011t0009g0160	1	152	0.0066	18	c.-11 others(39): Show c.-117-13453_-117-13452insATATTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172686	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	171	0.0058	18	c.236 others(37): Show c.2362-4129_2362-4128insATATATTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155187573	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0216 a0001c0004t0018g0216	1	88	0.0114	18	c.306 others(37): Show c.3064+4079_3064+4096dupTTTTTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICAM1_chr19_4810932_4836712	4811613	C C	CCAGCCTG others(11): Show CCAGCCTGGCTTCTCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01256.hp2 others(44): Show HG01123.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 NA18965.hp2 NA18977.hp2 NA18983.hp2 NA19030.hp2 NA19058.hp1 NA19067.hp1 NA19240.hp2 NA20129.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0008 a0010 a0014	a0001c0002 a0004c0006 a0006c0013 others(3): Show a0001c0002 a0004c0006 a0006c0013 a0008c0021 a0010c0011 a0014c0017	a0001c0002t0001 a0001c0002t0002 a0004c0006t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0004c0006t0001 a0006c0013t0001 a0008c0021t0001 a0010c0011t0001 a0014c0017t0002	a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0038 others(38): Show a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0111 a0001c0002t0001g0145 a0001c0002t0001g0165 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0251 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0002g0031 a0004c0006t0001g0260 a0004c0006t0001g0262 a0004c0006t0001g0264 a0006c0013t0001g0263 a0008c0021t0001g0097 a0010c0011t0001g0281 a0014c0017t0002g0146	47	410	0.1146	18	c.46 others(29): Show c.4625_*4626insTGCCGAGAAGCCAGGCTG	TICAM1	ENSG00000127666.11	transcript	ENST00000248244.6	protein_coding		4318		chr19	TogoVar
TICAM1_chr19_4810932_4836712	4827372	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	2	64	0.0313	18	c.-14 others(37): Show c.-140+4224_-140+4241dupTTTTTTTTTTTTTTTTTT	TICAM1	ENSG00000127666.11	transcript	ENST00000248244.6	protein_coding	1/1			chr19	TogoVar
TICAM2_chr5_115573496_115607479	115578195	A A	ATTTTTCT others(11): Show ATTTTTCTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02809.hp1 HG03516.hp2 others(1): Show HG02135.hp2 HG02809.hp1 HG03516.hp2 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0028	a0001c0001t0001g0002 a0001c0001t0005g0034 a0001c0001t0006g0094 others(1): Show a0001c0001t0001g0002 a0001c0001t0005g0034 a0001c0001t0006g0094 a0001c0001t0028g0167	4	120	0.0333	18	c.23 others(29): Show c.2353_*2354insAAAAAAAAAAAAGAAAAA	TICAM2	ENSG00000243414.6	transcript	ENST00000427199.3	protein_coding		300		chr5	TogoVar
TICRR_chr15_89570469_89633023	89609100	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02280.hp2 NA18522.hp2 others(1): Show HG01257.hp2 HG02280.hp2 NA18522.hp2 NA20129.hp1	a0004 a0007 a0004 a0007	a0004c0006 a0004c0007 a0007c0031 a0004c0006 a0004c0007 a0007c0031	a0004c0006t0001 a0004c0007t0004 a0007c0031t0001 a0004c0006t0001 a0004c0007t0004 a0007c0031t0001	a0004c0006t0001g0021 a0004c0007t0004g0290 a0007c0031t0001g0250 a0004c0006t0001g0021 a0004c0007t0004g0290 a0007c0031t0001g0250	4	63	0.0635	18	c.286 others(35): Show c.2869+162_2869+179dupTTTTTTTTTTTTTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TICRR_chr15_89570469_89633023	89626885	A A	ATTAAGTT others(11): Show ATTAAGTTTGTCATTCGGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	342	0.0029	18	c.560 others(33): Show c.5603-71_5603-70insTTAAGTTTGTCATTCGGT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	21/21			chr15	TogoVar
TIGAR_chr12_4316213_4365028	4316869	T T	TTTTTTTT others(11): Show TTTTTTTTTTGTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18977.hp2 NA18989.hp2 NA18946.hp2 NA18977.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0115 a0001c0001t0013 a0001c0001t0115	a0001c0001t0013g0003 a0001c0001t0013g0054 a0001c0001t0115g0003 a0001c0001t0013g0003 a0001c0001t0013g0054 a0001c0001t0115g0003	3	60	0.0500	18	c.-44 others(29): Show c.-4403_-4402insTTTTTTTTTGTTTTTTTG	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		4343		chr12	TogoVar
TIGAR_chr12_4316213_4365028	4363262	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03710.hp2 HG03927.hp1 HG02622.hp1 HG03710.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0106 a0001c0001t0008 a0001c0001t0106	a0001c0001t0008g0028 a0001c0001t0008g0055 a0001c0001t0106g0259 a0001c0001t0008g0028 a0001c0001t0008g0055 a0001c0001t0106g0259	3	18	0.1667	18	c.10 others(31): Show c.10571_*10572insTGTGTGTGTGTGTGTGTG	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		3235		chr12	TogoVar
TIGIT_chr3_114289028_114315288	114305572	A A	ATTGGAAT others(11): Show ATTGGAATCCCTAGGTCAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	422	0.0024	18	c.499 others(35): Show c.499-2321_499-2320insGGAATCCCTAGGTCACTT	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18980.hp1 NA18975.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0300 a0001c0003t0002g0142 a0001c0001t0002g0300 a0001c0003t0002g0142	2	256	0.0078	18	c.322 others(35): Show c.3228+539_3228+540insATATATATTTTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56449980	A A	ATCGTGCC others(11): Show ATCGTGCCTGTGAATTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	400	0.0025	18	c.-73 others(27): Show c.-733_-732insGTGAATTCACAGGCACGA	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding		555		chr12	TogoVar
TIMM17A_chr1_201950503_201975664	201953142	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0042 a0001c0001t0011g0042	1	302	0.0033	18	c.-23 others(29): Show c.-2385_-2384insATATATATATAGAGAGAG	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding		2360		chr1	TogoVar
TIMM17A_chr1_201950503_201975664	201966120	A A	AATTTGTT others(11): Show AATTTGTTGCCTGTTGTTC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0158 a0001c0001t0010g0158	1	466	0.0021	18	c.430 others(33): Show c.430+578_430+595dupATTTGTTGCCTGTTGTTC	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM17A_chr1_201950503_201975664	201966991	T T	TTATGTGT others(11): Show TTATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02630.hp1 HG02015.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0163 a0001c0001t0001g0055 a0001c0001t0001g0163	2	206	0.0097	18	c.430 others(35): Show c.430+1449_430+1450insATGTGTGTGTGTGTGTGT	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM17A_chr1_201950503_201975664	201966991	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	205	0.0049	18	c.430 others(35): Show c.430+1456_430+1473dupGTGTGTGTGTGTGTGTGT	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM17A_chr1_201950503_201975664	201967515	C C	CTCTTTTA others(11): Show CTCTTTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	466	0.0021	18	c.431 others(35): Show c.431-1953_431-1952insCTTTTATTTATTTATTTT	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM22_chr17_992129_1008671	993941	A A	AATCCACC others(11): Show AATCCACCTCACATAATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(28): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02698.hp2 HG03491.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1 NA18942.hp1 NA18944.hp1 NA18956.hp2 NA18967.hp2 NA18979.hp2 NA18982.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19057.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0036	a0001c0001t0001g0001 a0001c0001t0002g0025 a0001c0001t0002g0072 others(6): Show a0001c0001t0001g0001 a0001c0001t0002g0025 a0001c0001t0002g0072 a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0013g0001 a0001c0001t0023g0001 a0001c0001t0025g0001 a0001c0001t0036g0040	31	437	0.0709	18	c.-32 others(29): Show c.-3202_-3201insATCCACCTCACATAATCC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3187		chr17	TogoVar
TIMM22_chr17_992129_1008671	999323	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	83	0.0120	18	c.436 others(33): Show c.436-170_436-153dupTATATATATATATATATA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM23_chr10_45967489_46008742	45993244	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01109.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0203 a0001c0008t0001g0051 a0001c0001t0002g0203 a0001c0008t0001g0051	2	46	0.0435	18	c.514 others(35): Show c.514+4414_514+4415insTTTTTTTTTTTTTTTTTT	TIMM23	ENSG00000265354.4	transcript	ENST00000580018.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	216	0.0046	18	c.49 others(29): Show c.4934_*4935insTATATATATATACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404137	T T	TATTTTTT others(11): Show TATTTTTTTTTATTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	375	0.0027	18	c.48 others(29): Show c.4896_*4897insTAAAAAATAAAAAAAAAT	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4357		chr14	TogoVar
TIMMDC1_chr3_119493547_119530090	119495225	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01934.hp2 HG00280.hp1 HG01109.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0002t0001g0090 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0002t0001g0090	3	24	0.1250	18	c.-35 others(29): Show c.-3509_-3508insAAAAAAAAAAAAAAAAAA	TIMMDC1	ENSG00000113845.10	transcript	ENST00000494664.6	protein_coding		3321		chr3	TogoVar
TIMP2_chr17_78847977_78930387	78918065	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	112	0.0089	18	c.130 others(35): Show c.130+6876_130+6893dupGTGTGTGTGTGTGTGTGT	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP3_chr22_32796705_32868041	32814339	G G	GAAAGGAA others(11): Show GAAAGGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0319 a0001c0001t0006g0319	1	366	0.0027	18	c.121 others(37): Show c.121+12218_121+12219insAAGGAAGAAAGAAAGAAA	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
TINAGL1_chr1_31571515_31592686	31578243	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	110	0.0091	18	c.310 others(33): Show c.310+801_310+818dupTGTGTGTGTGTGTGTGTG	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31580162	G G	GCTTTCTC others(11): Show GCTTTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	402	0.0025	18	c.374 others(33): Show c.374+897_374+898insTTCTCTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31580191	C C	CTCTCTCT others(11): Show CTCTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01433.hp2 others(7): Show HG00544.hp1 HG00621.hp1 HG01433.hp2 HG02056.hp1 HG02735.hp2 HG03017.hp1 HG03710.hp1 NA18747.hp2 NA19070.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0159	10	395	0.0253	18	c.374 others(33): Show c.374+931_374+932insGTCTCTCTCTGTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31580199	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02027.hp2 NA18945.hp1 others(7): Show HG00741.hp2 HG02027.hp2 NA18945.hp1 NA18973.hp1 NA18982.hp1 NA18982.hp2 NA19056.hp2 NA19085.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0019 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0004g0052	10	320	0.0313	18	c.374 others(33): Show c.374+945_374+946insCTCTGTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAG_chr6_54303441_54395142	54360841	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02165.hp2 HG02559.hp1 others(12): Show HG01433.hp1 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02976.hp2 HG03195.hp1 NA18948.hp2 NA18951.hp1 NA18994.hp1 NA19062.hp1 NA19065.hp2 NA19077.hp2 NA19086.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0013 a0021	a0001c0001 a0002c0002 a0012c0009 others(2): Show a0001c0001 a0002c0002 a0012c0009 a0013c0012 a0021c0026	a0001c0001t0001 a0002c0002t0001 a0012c0009t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0012c0009t0001 a0013c0012t0001 a0021c0026t0001	a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0215 others(11): Show a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0320 a0001c0001t0001g0340 a0002c0002t0001g0013 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0329 a0012c0009t0001g0208 a0013c0012t0001g0069 a0013c0012t0001g0206 a0021c0026t0001g0082	15	72	0.2083	18	c.125 others(37): Show c.1250+6219_1250+6236dupTTTTTTTTTTTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03579.hp1 others(1): Show HG02145.hp2 HG02970.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0020 a0001c0001t0001g0081	4	61	0.0656	18	c.-21 others(37): Show c.-217+2091_-217+2092insGTATATATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG01943.hp1 others(19): Show HG00621.hp2 HG01099.hp2 HG01943.hp1 HG02109.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18941.hp1 NA19056.hp1 NA19083.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0004 a0002c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0003g0071 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0003g0071 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0072 a0001c0003t0004g0013 a0002c0002t0002g0028	22	79	0.2785	18	c.-21 others(37): Show c.-217+2091_-217+2092insGTGTGTATATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 NA18953.hp1 others(7): Show HG00597.hp1 HG00597.hp2 NA18953.hp1 NA18955.hp1 NA18983.hp1 NA18985.hp2 NA18995.hp2 NA19085.hp2 NA19088.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0001c0001t0006 a0011c0012t0001 a0001c0001t0001 a0001c0001t0006 a0011c0012t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0121 a0001c0001t0006g0062 a0011c0012t0001g0015	10	67	0.1493	18	c.-21 others(37): Show c.-217+2091_-217+2092insGTGTGTGTATATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18953.hp2 NA19030.hp2 others(1): Show HG03041.hp1 NA18953.hp2 NA19030.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0003c0004t0001 a0001c0001t0003 a0001c0001t0006 a0003c0004t0001	a0001c0001t0003g0075 a0001c0001t0006g0064 a0003c0004t0001g0122 others(1): Show a0001c0001t0003g0075 a0001c0001t0006g0064 a0003c0004t0001g0122 a0003c0004t0001g0131	4	61	0.0656	18	c.-21 others(37): Show c.-217+2091_-217+2092insGTGTGTGTGTATATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TIRAP_chr11_126278093_126299933	126285243	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 NA18522.hp2 HG02145.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0065 a0001c0001t0006g0030 a0001c0001t0006g0065	3	60	0.0500	18	c.-21 others(37): Show c.-217+2091_-217+2092insGTGTGTGTGTGTATATAT	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TJAP1_chr6_43472570_43511554	43474582	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0018 a0001c0006t0001g0018	1	217	0.0046	18	c.-33 others(29): Show c.-3314_-3313insAATAATAATAATAATAAT	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding		2987		chr6	TogoVar
TJAP1_chr6_43472570_43511554	43501758	A A	ACACACAC others(11): Show ACACACACACACACACACT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	231	0.0043	18	c.290 others(31): Show c.290+72_290+73insACACACACACACACACTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502076	A A	ACACACAC others(11): Show ACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	93	0.0108	18	c.291 others(33): Show c.291-206_291-205insACACACACACACACTCTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502076	A A	ACACACAC others(11): Show ACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	93	0.0108	18	c.291 others(33): Show c.291-206_291-205insACACACACACACTCTCTC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results