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
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03453.hp2 others(1): Show HG02647.hp1 HG03041.hp2 HG03453.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0130 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0232	4	60	0.0667	25	c.580 others(42): Show c.580-1541_580-1517dupTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	106	0.0094	25	c.668 others(40): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02027.hp1 HG03239.hp1 others(2): Show HG01433.hp2 HG02027.hp1 HG03239.hp1 NA18948.hp1 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0004c0008t0001 a0001c0001t0001 a0001c0001t0002 a0004c0008t0001	a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0132 a0001c0001t0002g0224 a0004c0008t0001g0155	5	34	0.1471	25	c.979 others(42): Show c.979+2226_979+2250dupTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53035987	T T	TTTTGTAT others(18): Show TTTTGTATTTTCAATAGAGACGCAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(101): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01884.hp1 HG01891.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0003c0009	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(14): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0026 a0001c0003t0005 a0001c0005t0005 a0001c0005t0013 a0003c0009t0015	a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0011 others(89): Show a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0015 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0319 a0001c0002t0003g0341 a0001c0002t0003g0342 a0001c0002t0003g0343 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0346 a0001c0002t0003g0348 a0001c0002t0003g0349 a0001c0002t0003g0350 a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0278 a0001c0002t0004g0279 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0004g0285 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0004g0288 a0001c0002t0004g0290 a0001c0002t0004g0292 a0001c0002t0004g0293 a0001c0002t0004g0294 a0001c0002t0004g0295 a0001c0002t0004g0296 a0001c0002t0004g0297 a0001c0002t0004g0298 a0001c0002t0004g0299 a0001c0002t0004g0300 a0001c0002t0005g0012 a0001c0002t0005g0321 a0001c0002t0005g0323 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0331 a0001c0002t0005g0332 a0001c0002t0005g0334 a0001c0002t0007g0014 a0001c0002t0007g0270 a0001c0002t0007g0335 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0009g0317 a0001c0002t0009g0318 a0001c0002t0009g0338 a0001c0002t0011g0351 a0001c0002t0011g0352 a0001c0002t0011g0353 a0001c0002t0012g0272 a0001c0002t0012g0284 a0001c0002t0012g0289 a0001c0002t0015g0280 a0001c0002t0018g0291 a0001c0002t0019g0277 a0001c0002t0020g0339 a0001c0002t0025g0347 a0001c0002t0026g0340 a0001c0003t0005g0320 a0001c0003t0005g0322 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0005t0005g0013 a0001c0005t0013g0271 a0001c0005t0013g0311 a0001c0005t0013g0333 a0003c0009t0015g0301	104	370	0.2811	25	c.130 others(44): Show c.1306+1282_1306+1283insTATTTTCAATAGAGACGCAGATTTG	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4EBP1_chr8_38025534_38065365	38032227	T T	TCTGGCCC others(18): Show TCTGGCCCGGGTACCAAGGTTCACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp2 HG02258.hp2 others(22): Show HG00408.hp2 HG01243.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18952.hp2 NA19057.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060	25	342	0.0731	25	c.145 others(42): Show c.145+1513_145+1537dupGCCCGGGTACCAAGGTTCACACCTG	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	195	0.0051	25	c.299 others(40): Show c.299-733_299-732insATATATATATATATATATATTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCTC others(18): Show TCTCCCTCTCCCCCTCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	153	0.0065	25	c.451 others(44): Show c.4516-1510_4516-1509insGGGGAGGGGGGAGGGGGAGAGGGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814770	C C	CCCCCTCC others(18): Show CCCCCTCCCCCTCCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	310	0.0032	25	c.451 others(44): Show c.4516-1532_4516-1531insAGAGGGGGAGGGGGAGGGGGAGGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(18): Show CCCCTCCCCCTCCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0051 a0001c0001t0018g0051	1	266	0.0038	25	c.451 others(44): Show c.4516-1538_4516-1537insAGAGGGAGAGGGGGGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	104	0.0096	25	c.178 others(42): Show c.178-6673_178-6649dupCCTCCCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	104	0.0096	25	c.-19 others(46): Show c.-195-17406_-195-17382dupTTTTTTTTTTTTTTTTTTTTTTTT T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	82	0.0122	25	c.-27 others(46): Show c.-271-28548_-271-28524dupTTTTTTTTTTTTTTTTTTTTTTTT T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99355492	T T	TTTTTACA others(18): Show TTTTTACATATTTTGTTAGATTTCCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18966.hp2 NA18993.hp1 others(1): Show HG02132.hp1 NA18966.hp2 NA18993.hp1 NA18994.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0232 a0002c0001t0002g0238 a0002c0001t0002g0263 others(1): Show a0002c0001t0002g0232 a0002c0001t0002g0238 a0002c0001t0002g0263 a0002c0001t0005g0215	4	340	0.0118	25	c.36- others(40): Show c.36-4744_36-4743insTTTTACATATTTTGTTAGATTTCCA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3349616	C C	CGGGAGAC others(18): Show CGGGAGACAGGGACAGGGAGCATGCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	248	0.0040	25	c.126 others(42): Show c.126+4909_126+4933dupAGCATGCTCCCTGTCCCTGTCTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3355812	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	109	0.0092	25	c.43- others(40): Show c.43-1204_43-1180dupTATTTTATTTTATTTTATTTTATTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50964979	T T	TTATATAT others(18): Show TTATATATATTTACATACTACAATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	382	0.0026	25	c.-31 others(36): Show c.-3144_-3143insTATATATATTTACATACTACAATGC	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding		3060		chr18	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02486.hp2 HG02965.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0036 a0002c0007t0016 a0002c0007t0036	a0002c0007t0016g0034 a0002c0007t0036g0085 a0002c0007t0016g0034 a0002c0007t0036g0085	2	222	0.0090	25	c.-46 others(36): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0033 a0002c0014t0033	a0002c0014t0033g0210 a0002c0014t0033g0210	1	38	0.0263	25	c.154 others(44): Show c.154-17832_154-17831insATATATATATTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	28	0.0357	25	c.488 others(42): Show c.488-1372_488-1348dupTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03225.hp1 NA18950.hp2 others(1): Show HG00735.hp1 HG03225.hp1 NA18950.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0245 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0245 a0001c0001t0003g0249	4	42	0.0952	25	c.230 others(42): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139092413	A A	AAACATAA others(18): Show AAACATAACATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	277	0.0036	25	c.239 others(44): Show c.239-18847_239-18846insATGTTATGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACAAAC others(18): Show TAACAAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01106.hp2 others(10): Show HG00544.hp2 HG00741.hp2 HG01106.hp2 HG01884.hp2 HG02155.hp1 HG02572.hp1 HG02647.hp2 HG02976.hp1 HG03579.hp2 NA18972.hp1 NA18974.hp2 NA18988.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0092 others(10): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0326 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0162	13	39	0.3333	25	c.239 others(44): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTTGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(18): Show TAACATAACAAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18992.hp2 NA19240.hp1 HG00597.hp1 NA18992.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0163 a0001c0001t0002g0297 a0002c0002t0002g0196 a0001c0001t0002g0163 a0001c0001t0002g0297 a0002c0002t0002g0196	3	29	0.1034	25	c.239 others(44): Show c.239-18848_239-18847insTATGTTATGTTATGTTTGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(18): Show TCCAGTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01169.hp1 HG01255.hp1 others(4): Show HG00597.hp1 HG01169.hp1 HG01255.hp1 HG01891.hp2 HG02523.hp1 HG03834.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0290 others(4): Show a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0002g0297	7	75	0.0933	25	c.238 others(44): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	99	0.0101	25	c.-25 others(46): Show c.-251-11536_-251-11535insCTTTCTTTCTTTCTTTCTTTCTTT T	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN2_chr22_37362960_37432479	37427057	G G	GCCTCCGC others(18): Show GCCTCCGCCCACCGCCACCACCACCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0321 a0001c0001t0097g0321	1	332	0.0030	25	c.-61 others(42): Show c.-614+216_-614+240dupTGGTGGTGGTGGCGGTGGGCGGAGG	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	1/2			chr22	TogoVar
ELK1_chrX_47630521_47655563	47645976	T T	TTTCCTCC others(18): Show TTTCCTCCTATACATAGTGATGTTTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	274	0.0036	25	c.-35 others(42): Show c.-35+3944_-35+3945insCAAACATCACTATGTATAGGAGGAA	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	2/6			chrX	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20300.hp2 HG00280.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0200 a0001c0001t0001g0149 a0001c0001t0001g0200	2	107	0.0187	25	c.870 others(42): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(18): Show CTCTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	10	0.1000	25	c.65 others(36): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp2 HG02080.hp1 others(2): Show HG01106.hp2 HG01978.hp2 HG02080.hp1 HG03927.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0002t0003g0028 others(2): Show a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0037	5	12	0.4167	25	c.143 others(44): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(18): Show GCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	72	0.0139	25	c.-47 others(36): Show c.-4772_-4771insACACACACACACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	172	0.0058	25	c.-33 others(36): Show c.-3330_-3329insAAAAAAAAAAAAAAAAAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOC_chr8_73940119_73977191	73976203	G G	GGCAGTCG others(18): Show GGCAGTCGGGTGGGAAGCCGTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19004.hp2 NA19080.hp2 NA18951.hp1 NA19004.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0131 a0001c0001t0003g0027 a0001c0001t0003g0131	3	402	0.0075	25	c.-42 others(36): Show c.-4202_-4178dupGAGACACGGCTTCCCACCCGACTGC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		4013		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978305	A A	ATATATAT others(18): Show ATATATATATATATATAATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	287	0.0035	25	c.54 others(36): Show c.5475_*5476insAAAAAAAATTATATATATATATATA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2453		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043471	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02976.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0001t0010 a0001c0007t0018 a0001c0001t0006 a0001c0001t0010 a0001c0007t0018	a0001c0001t0006g0030 a0001c0001t0006g0202 a0001c0001t0006g0205 others(3): Show a0001c0001t0006g0030 a0001c0001t0006g0202 a0001c0001t0006g0205 a0001c0001t0010g0016 a0001c0001t0010g0203 a0001c0007t0018g0204	7	248	0.0282	25	c.3+7 others(36): Show c.3+756_3+757insTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084148	T T	TATATAAC others(18): Show TATATAACATATATATGATATATATG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	334	0.0030	25	c.221 others(44): Show c.221+21348_221+21349insCATATATATCATATATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084169	A A	ATATATGA others(18): Show ATATATGATATATATAACATATAACT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02723.hp1 HG02896.hp2 others(2): Show HG01975.hp2 HG02723.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 a0001c0001t0006 a0001c0001t0008 a0001c0001t0028	a0001c0001t0006g0257 a0001c0001t0008g0021 a0001c0001t0008g0023 others(2): Show a0001c0001t0006g0257 a0001c0001t0008g0021 a0001c0001t0008g0023 a0001c0001t0028g0048 a0001c0001t0028g0247	5	300	0.0167	25	c.221 others(44): Show c.221+21303_221+21327dupAGTTATATGTTATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084426	C C	CATATATC others(18): Show CATATATCATATATATCACATATATG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	221	0.0045	25	c.221 others(44): Show c.221+21070_221+21071insCATATATGTGATATATATGATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084433	C C	CATATATG others(18): Show CATATATGATATATCACATATATGAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0248 a0001c0002t0030g0248	1	336	0.0030	25	c.221 others(44): Show c.221+21063_221+21064insATCATATATGTGATATATCATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084436	A A	ATATGATA others(18): Show ATATGATATATCACATATATGATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp2 others(37): Show HG00140.hp1 HG00323.hp2 HG00609.hp2 HG01361.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02523.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 HG04184.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0077 a0001c0001t0078	a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0271 others(37): Show a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0002g0241 a0001c0001t0002g0288 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0005g0067 a0001c0001t0005g0088 a0001c0001t0005g0093 a0001c0001t0005g0113 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0130 a0001c0001t0005g0196 a0001c0001t0005g0222 a0001c0001t0005g0231 a0001c0001t0005g0281 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0326 a0001c0001t0011g0086 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0013g0266 a0001c0001t0013g0280 a0001c0001t0019g0296 a0001c0001t0019g0318 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0024g0154 a0001c0001t0024g0245 a0001c0001t0025g0256 a0001c0001t0038g0090 a0001c0001t0039g0058 a0001c0001t0040g0230 a0001c0001t0045g0006 a0001c0001t0077g0104 a0001c0001t0078g0068	40	336	0.1190	25	c.221 others(44): Show c.221+21060_221+21061insCATATCATATATGTGATATATCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084440	G G	GATATATC others(18): Show GATATATCACATATATGATATATCAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02723.hp1 others(4): Show HG00738.hp1 HG01975.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 a0001c0001t0074	a0001c0001t0006g0257 a0001c0001t0008g0019 a0001c0001t0008g0021 others(4): Show a0001c0001t0006g0257 a0001c0001t0008g0019 a0001c0001t0008g0021 a0001c0001t0008g0023 a0001c0001t0028g0048 a0001c0001t0028g0247 a0001c0001t0074g0056	7	336	0.0208	25	c.221 others(44): Show c.221+21056_221+21057insATGATATATCATATATGTGATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084589	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	306	0.0033	25	c.221 others(44): Show c.221+20907_221+20908insTATATATATATATATATATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG00735.hp2 HG02896.hp1 HG02897.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0038 a0001c0001t0016 a0001c0001t0017 a0001c0001t0038	a0001c0001t0016g0164 a0001c0001t0017g0041 a0001c0001t0017g0042 others(1): Show a0001c0001t0016g0164 a0001c0001t0017g0041 a0001c0001t0017g0042 a0001c0001t0038g0090	4	58	0.0690	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	55	0.0182	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	55	0.0182	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	55	0.0182	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATATTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	55	0.0182	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATATATTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0216 a0001c0001t0026g0216	1	55	0.0182	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATATATATT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	G G	GGGAGGGG others(18): Show GGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	217	0.0046	25	c.-85 others(44): Show c.-85-19870_-85-19869insTCTCCTCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	G G	GGGAGGGG others(18): Show GGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	217	0.0046	25	c.-85 others(44): Show c.-85-19870_-85-19869insTCTCCCCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar

Search by Variant

Search

Search Results