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
EIPR1_chr2_3183970_3382818	3269400	T T	TCACCACA others(12): Show TCACCACACTCAATCATCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 NA19030.hp1 HG02258.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184	3	247	0.0121	19	c.260 others(38): Show c.260-11946_260-11945insGTGATGATTGAGTGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109138834	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0133 a0002c0006t0002g0208 a0002c0006t0002g0133 a0002c0006t0002g0208	2	53	0.0377	19	c.154 others(38): Show c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0022 a0002c0016t0022	a0002c0016t0022g0075 a0002c0016t0022g0075	1	38	0.0263	19	c.154 others(38): Show c.154-17818_154-17817insTTTTTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL2_chr9_23685104_23831240	23735104	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	350	0.0029	19	c.230 others(36): Show c.230-3980_230-3979insTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01516.hp2 others(13): Show HG00738.hp1 HG01243.hp1 HG01516.hp2 HG02027.hp2 HG02300.hp2 HG02683.hp1 HG03017.hp2 HG03239.hp1 HG03669.hp2 HG04115.hp2 NA18941.hp2 NA18988.hp2 NA18990.hp2 NA19011.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0165 others(13): Show a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0165 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0302 a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0015g0246 a0001c0001t0016g0085 a0001c0002t0002g0024 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0045	16	54	0.2963	19	c.230 others(36): Show c.230-3999_230-3981dupTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50133599	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	63	0.0159	19	c.10- others(36): Show c.10-11356_10-11355insGAAAGAAAGAAAGAAAGAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	40956047	C C	CGGCCACC others(12): Show CGGCCACCACCCCCGTCTGG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	360	0.0028	19	c.253 others(36): Show c.253+2788_253+2789insCCAGACGGGGGTGGTGGCC	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139092389	T T	TAACATAA others(12): Show TAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	340	0.0029	19	c.239 others(38): Show c.239-18841_239-18823dupTGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(12): Show TCCAGTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(35): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02523.hp2 HG02809.hp2 HG03239.hp1 HG03942.hp2 NA18612.hp1 NA18944.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18972.hp2 NA18979.hp1 NA18981.hp1 NA18997.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0056 others(35): Show a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0338 a0001c0001t0002g0097 a0001c0001t0002g0300 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0007g0243 a0001c0001t0009g0253	38	106	0.3585	19	c.238 others(38): Show c.238+10602_238+10603insTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1719298	G G	GCCCCGCC others(12): Show GCCCCGCCCACCAACAGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	260	0.0038	19	c.-29 others(40): Show c.-294+10063_-294+10064insGCCCCCGCCCACCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02258.hp2 HG03139.hp2 others(3): Show HG01168.hp1 HG02258.hp2 HG03139.hp2 HG03209.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0004 a0001c0003t0005	a0001c0003t0004g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 others(3): Show a0001c0003t0004g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0005g0034 a0001c0003t0005g0038	6	152	0.0395	19	c.482 others(34): Show c.482-515_482-514insAAAAAAAAATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0039 a0001c0003t0005g0039	1	147	0.0068	19	c.482 others(34): Show c.482-515_482-514insAAAAAAAAAAATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	147	0.0068	19	c.482 others(34): Show c.482-515_482-514insAAAAAAAAAAAAAAATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	147	0.0068	19	c.482 others(34): Show c.482-515_482-514insAAAAAAAAAAAAAAAAATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01169.hp1 HG00408.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0202 a0001c0001t0004g0153 a0001c0001t0001g0202 a0001c0001t0004g0153	2	107	0.0187	19	c.870 others(36): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462366	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGGGCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	207	0.0048	19	c.470 others(34): Show c.470-515_470-514insCGCCCACACACACACACAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02486.hp1 HG04228.hp1 HG01258.hp1 HG02486.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0084 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0001t0010g0084 a0001c0002t0002g0048 a0001c0002t0002g0049	3	10	0.3000	19	c.143 others(38): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37092366	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	28	0.0357	19	c.130 others(38): Show c.1300+4234_1300+4252dupAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(12): Show GGGCGGGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02300.hp2 NA19060.hp2 HG00140.hp2 HG02300.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0003g0054 a0001c0001t0004g0217 a0001c0001t0003g0003 a0001c0001t0003g0054 a0001c0001t0004g0217	3	74	0.0405	19	c.-47 others(30): Show c.-4772_-4771insACACACACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD3_chr2_85349769_85396748	85364826	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0070 a0005c0005t0015g0070	1	323	0.0031	19	c.199 others(36): Show c.199+1660_199+1661insATATATATATATATATATA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13			chr2	TogoVar
ELN_chr7_74023173_74074907	74058249	T T	TTTCTTCT others(12): Show TTTCTTCTTCTTCTTTCTCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0332 a0001c0001t0005g0332	1	291	0.0034	19	c.141 others(36): Show c.1414+564_1414+565insCTTTCTCCTTCTTCTTCTT	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOVL2_chr6_10975759_11049305	10978305	A A	ATATATAT others(12): Show ATATATATATAATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	287	0.0035	19	c.54 others(30): Show c.5475_*5476insAAAAAAAATTATATATATA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2453		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0016 a0001c0001t0010g0016	1	223	0.0045	19	c.54 others(30): Show c.5474_*5475insTATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TGTATATA others(12): Show TGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	223	0.0045	19	c.54 others(30): Show c.5474_*5475insTATATATATATATATATAC	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043471	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00621.hp2 others(97): Show HG00323.hp2 HG00423.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0013 a0001c0002t0021 a0001c0002t0022	a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0006g0003 others(83): Show a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0006g0003 a0001c0001t0006g0020 a0001c0001t0006g0270 a0001c0001t0008g0019 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0264 a0001c0001t0010g0261 a0001c0001t0010g0268 a0001c0001t0017g0271 a0001c0001t0025g0272 a0001c0002t0001g0021 a0001c0002t0001g0232 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0339 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0269 a0001c0002t0002g0340 a0001c0002t0004g0240 a0001c0002t0009g0002 a0001c0002t0009g0226 a0001c0002t0009g0234 a0001c0002t0009g0235 a0001c0002t0009g0249 a0001c0002t0013g0224 a0001c0002t0013g0289 a0001c0002t0013g0293 a0001c0002t0013g0295 a0001c0002t0021g0217 a0001c0002t0022g0248	100	341	0.2933	19	c.3+7 others(30): Show c.3+756_3+757insTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306231	G G	GGGAGAGG others(12): Show GGGAGAGGGGAGAGGGGACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01496.hp1 others(10): Show HG00140.hp2 HG01175.hp2 HG01496.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0027 others(9): Show a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038	13	313	0.0415	19	c.-8- others(36): Show c.-8-10525_-8-10524insTGTCCCCTCTCCCCTCTCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306231	G G	GGGAGAGG others(12): Show GGGAGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0303 a0001c0001t0009g0304 a0001c0001t0009g0303 a0001c0001t0009g0304	2	302	0.0066	19	c.-8- others(36): Show c.-8-10525_-8-10524insTCTCCCCTCTCCCCTCTCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306335	G G	GGAGAGGG others(12): Show GGAGAGGGAGAGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp2 HG02109.hp2 HG01257.hp2 HG01433.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0005g0014 a0001c0001t0005g0021 a0001c0001t0002g0019 a0001c0001t0005g0014 a0001c0001t0005g0021	3	297	0.0101	19	c.-8- others(36): Show c.-8-10629_-8-10628insTCTCTCCCCTCTCCCTCTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110042850	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG03130.hp1 others(1): Show HG01109.hp1 HG02055.hp2 HG03130.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0056 a0001c0001t0004 a0001c0001t0008 a0001c0001t0056	a0001c0001t0004g0215 a0001c0001t0008g0049 a0001c0001t0008g0073 others(1): Show a0001c0001t0004g0215 a0001c0001t0008g0049 a0001c0001t0008g0073 a0001c0001t0056g0109	4	12	0.3333	19	c.84 others(30): Show c.8487_*8488insTTTTTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		2995		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110044270	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03209.hp2 NA20129.hp2 HG02559.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0028 a0001c0001t0071 a0001c0001t0021 a0001c0001t0028 a0001c0001t0071	a0001c0001t0021g0069 a0001c0001t0028g0048 a0001c0001t0071g0015 a0001c0001t0021g0069 a0001c0001t0028g0048 a0001c0001t0071g0015	3	270	0.0111	19	c.70 others(30): Show c.7067_*7068insTTTTTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		1575		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084589	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA20805.hp1 NA18961.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0165 a0001c0001t0002g0175	2	307	0.0065	19	c.221 others(38): Show c.221+20907_221+20908insTATATATATATATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110090600	C C	CTTTTTTG others(12): Show CTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0291 a0001c0001t0076g0291	1	163	0.0061	19	c.221 others(38): Show c.221+14896_221+14897insAAAAAAAAAAAACAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110090603	T T	TTTTGTTT others(12): Show TTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0324 a0001c0001t0004g0324	1	336	0.0030	19	c.221 others(38): Show c.221+14893_221+14894insCAAAAAAAAAAAAAACAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0018 a0001c0001t0021g0018	1	55	0.0182	19	c.90- others(36): Show c.90-12276_90-12275insAATTTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03486.hp1 HG01255.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0066 a0001c0001t0001 a0001c0001t0066	a0001c0001t0001g0251 a0001c0001t0066g0228 a0001c0001t0001g0251 a0001c0001t0066g0228	2	56	0.0357	19	c.90- others(36): Show c.90-12276_90-12275insATATATTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02738.hp2 HG01361.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0032 a0001c0001t0001g0125	2	56	0.0357	19	c.90- others(36): Show c.90-12276_90-12275insATATATATATATTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	55	0.0182	19	c.90- others(36): Show c.90-12276_90-12275insATATATATATATATTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03669.hp1 HG01175.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0262 a0001c0001t0004g0062 a0001c0001t0004g0262	2	56	0.0357	19	c.90- others(36): Show c.90-12276_90-12275insATATATATATATATATTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03834.hp1 HG01071.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0156 a0001c0001t0023g0185 a0001c0001t0001g0156 a0001c0001t0023g0185	2	56	0.0357	19	c.90- others(36): Show c.90-12276_90-12275insATATATATATATATATATT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19082.hp1 NA18945.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	56	0.0357	19	c.90- others(36): Show c.90-12276_90-12275insATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	225	0.0044	19	c.89+ others(36): Show c.89+39589_89+39590insATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03225.hp2 NA18992.hp1 others(2): Show HG00609.hp2 HG03225.hp2 NA18992.hp1 NA18994.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0038	a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0006g0053 others(2): Show a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0006g0053 a0001c0001t0013g0280 a0001c0001t0038g0090	5	229	0.0218	19	c.89+ others(36): Show c.89+39589_89+39590insAAATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG04115.hp2 NA18941.hp2 others(5): Show HG02148.hp1 HG04115.hp2 NA18941.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18971.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0059	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0207 a0001c0001t0004g0092 a0001c0001t0005g0117 a0001c0001t0007g0009 a0001c0001t0016g0112 a0001c0001t0059g0116	8	232	0.0345	19	c.89+ others(36): Show c.89+39589_89+39590insAAAAATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18968.hp2 NA19067.hp2 HG02040.hp1 NA18968.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0052 a0001c0001t0001 a0001c0001t0016 a0001c0001t0052	a0001c0001t0001g0275 a0001c0001t0016g0114 a0001c0001t0052g0235 a0001c0001t0001g0275 a0001c0001t0016g0114 a0001c0001t0052g0235	3	227	0.0132	19	c.89+ others(36): Show c.89+39589_89+39590insAAAAAAATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0230 a0001c0001t0040g0230	1	225	0.0044	19	c.89+ others(36): Show c.89+39589_89+39590insAAAAAAAAATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48029837	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	379	0.0026	19	c.48 others(30): Show c.4893_*4894insGAGAGAGAGAGAGAGAGAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4684		chr19	TogoVar
EMC7_chr15_34079017_34106862	34106579	T T	TCACATGG others(12): Show TCACATGGTACAATATTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	220	0.0045	19	c.-47 others(30): Show c.-4741_-4740insCCTAATATTGTACCATGTG	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding		4718		chr15	TogoVar
EML4_chr2_42164353_42337548	42169320	C C	CGGGCGCG others(12): Show CGGGCGCGGGCGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG03831.hp1 NA18943.hp1 others(3): Show HG00609.hp1 HG03831.hp1 NA18943.hp1 NA18973.hp1 NA19012.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018	a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0011g0148 others(3): Show a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0011g0148 a0001c0001t0011g0149 a0001c0001t0011g0184 a0001c0001t0018g0175	6	356	0.0169	19	c.-29 others(28): Show c.-292_-291insGGGCGCGGGCGCGGGGGCG	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding		32		chr2	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03098.hp2 others(2): Show HG02145.hp1 HG02723.hp2 HG03098.hp2 HG03486.hp1 NA18961.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0012 others(1): Show a0001c0001 a0001c0005 a0001c0012 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0005t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0005t0003 a0001c0012t0003 a0003c0003t0004	a0001c0001t0002g0194 a0001c0001t0003g0209 a0001c0005t0003g0340 others(2): Show a0001c0001t0002g0194 a0001c0001t0003g0209 a0001c0005t0003g0340 a0001c0012t0003g0338 a0003c0003t0004g0257	5	51	0.0980	19	c.26- others(32): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19086.hp1 NA18952.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0080 a0002c0002t0001g0064 a0002c0002t0001g0080	2	91	0.0220	19	c.196 others(38): Show c.1967+1941_1967+1959dupTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results