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
MDGA2_chr14_46835092_47680605	47335747	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0035 a0003c0003t0003g0035	1	120	0.0083	28	c.281 others(47): Show c.281-34198_281-34197insGTGTATATATATATATATATATATAT AT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02683.hp2 HG03704.hp2 others(2): Show HG00323.hp2 HG02683.hp2 HG03704.hp2 HG04228.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0003 a0001c0001 a0002c0006 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0006t0003 a0003c0003t0002	a0001c0001t0001g0060 a0001c0001t0003g0118 a0001c0001t0006g0061 others(2): Show a0001c0001t0001g0060 a0001c0001t0003g0118 a0001c0001t0006g0061 a0002c0006t0003g0059 a0003c0003t0002g0036	5	120	0.0417	28	c.280 others(49): Show c.280+133976_280+133977insTATATATATATATATATACACACA CACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	120	0.0083	28	c.280 others(49): Show c.280+133976_280+133977insTATATATATATATATACACACACA CACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CACATATA others(21): Show CACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	120	0.0083	28	c.280 others(47): Show c.280+65088_280+65089insATATATATATATATATATATATATAT GT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(21): Show CATATATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18994.hp1 HG02647.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0001 a0001c0001t0007 a0001c0005t0001	a0001c0001t0007g0021 a0001c0005t0001g0064 a0001c0001t0007g0021 a0001c0005t0001g0064	2	120	0.0167	28	c.280 others(47): Show c.280+65088_280+65089insATATATATATATGTATATATATATAT AT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0011 a0001c0001t0017g0011	1	120	0.0083	28	c.280 others(47): Show c.280+65061_280+65088dupATATATATATATATATATATATATAT AT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847136	T T	TACATATA others(21): Show TACATATATTACATATATATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	388	0.0026	28	c.72 others(39): Show c.7287_*7288insACATATATTACATATATATATATAATAC	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1593		chr12	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02109.hp2 HG02257.hp1 others(9): Show HG01516.hp2 HG02109.hp2 HG02257.hp1 NA18612.hp1 NA18747.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA19060.hp1 NA19062.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 a0001c0001t0055	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0245 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0019g0198 a0001c0001t0022g0289 a0001c0001t0055g0193	12	388	0.0309	28	c.73 others(39): Show c.7347_*7348insTATATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp2 NA19056.hp2 NA18953.hp1 NA18957.hp2 NA19056.hp2	a0001 a0007 a0044 a0001 a0007 a0044	a0001c0001 a0007c0006 a0044c0046 a0001c0001 a0007c0006 a0044c0046	a0001c0001t0001 a0007c0006t0001 a0044c0046t0001 a0001c0001t0001 a0007c0006t0001 a0044c0046t0001	a0001c0001t0001g0178 a0007c0006t0001g0193 a0044c0046t0001g0184 a0001c0001t0001g0178 a0007c0006t0001g0193 a0044c0046t0001g0184	3	290	0.0103	28	c.139 others(47): Show c.13956+748_13956+749insAAAAAAAAAAAAAATATATATATATA TA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02056.hp1 NA19009.hp2 HG00642.hp1 HG02056.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0268 a0001c0001t0001g0285 a0001c0001t0001g0196 a0001c0001t0001g0268 a0001c0001t0001g0285	3	290	0.0103	28	c.139 others(47): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	290	0.0035	28	c.139 others(47): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAAAATATATATA TA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	272	0.0037	28	c.102 others(45): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83237276	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	272	0.0037	28	c.102 others(45): Show c.1026+440_1026+441insCCTTTCTTTCTTTCTTTCTTTCTTTCTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	272	0.0037	28	c.705 others(47): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357902	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	272	0.0037	28	c.363 others(45): Show c.363-5791_363-5764dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	272	0.0037	28	c.363 others(45): Show c.363-5797_363-5796insTATATATATATAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	272	0.0037	28	c.363 others(45): Show c.363-5797_363-5796insTATATATAGAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50927751	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0326 a0001c0001t0123g0326	1	342	0.0029	28	c.131 others(47): Show c.1314+1854_1314+1855insTATATATATATATATATATATACACA CA	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19001.hp1 NA18988.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0283 a0001c0001t0002g0285	2	320	0.0063	28	c.810 others(47): Show c.810-10675_810-10674insCTCTCTCTCTCTCTCTCTATATATAT AT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560746	G G	GTATGTGT others(21): Show GTATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp2 HG02486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0175 a0001c0001t0001g0179	2	320	0.0063	28	c.184 others(43): Show c.184-924_184-923insTATATATATATATATATATATACACATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0293 a0001c0019t0002g0293	1	320	0.0031	28	c.184 others(43): Show c.184-926_184-925insTATATATATATATATATATATATATATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	320	0.0031	28	c.184 others(43): Show c.184-926_184-925insTATATATATATATATATATATATATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(21): Show GTGTATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG02074.hp2 others(2): Show HG01346.hp1 HG01361.hp1 HG02074.hp2 NA18982.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0002c0008 a0001c0002 a0001c0014 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0001c0014t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0014t0001 a0002c0008t0001	a0001c0002t0001g0018 a0001c0002t0001g0032 a0001c0002t0002g0260 others(2): Show a0001c0002t0001g0018 a0001c0002t0001g0032 a0001c0002t0002g0260 a0001c0014t0001g0053 a0002c0008t0001g0125	5	320	0.0156	28	c.184 others(43): Show c.184-926_184-925insTATATATATATATATATATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(21): Show GTGTATGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0237 a0001c0002t0002g0238	2	320	0.0063	28	c.184 others(43): Show c.184-926_184-925insTATATATATATATATATACACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	320	0.0031	28	c.184 others(47): Show c.184-35484_184-35483insCTCTCTCTCTCTCTCTCTCTCTCTAT AT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169165714	C C	CTTAAGGA others(21): Show CTTAAGGAAGTAACAAGGGTAGAGGAACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0146 a0001c0001t0014g0146	1	160	0.0063	28	c.376 others(47): Show c.376-21883_376-21882insAGTTCCTCTACCCTTGTTACTTCCTT AA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169180793	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	160	0.0063	28	c.376 others(47): Show c.376-36962_376-36961insTATATATATATATATATATATATATA TA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151141174	T T	TGTTTGTT others(21): Show TGTTTGTTTGTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02647.hp2 others(3): Show HG01433.hp2 HG02109.hp1 HG02647.hp2 HG02809.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0014 a0001c0019 a0001c0014 a0001c0019	a0001c0014t0011 a0001c0019t0002 a0001c0014t0011 a0001c0019t0002	a0001c0014t0011g0029 a0001c0014t0011g0030 a0001c0014t0011g0031 others(3): Show a0001c0014t0011g0029 a0001c0014t0011g0030 a0001c0014t0011g0031 a0001c0014t0011g0127 a0001c0019t0002g0024 a0001c0019t0002g0025	6	280	0.0214	28	c.556 others(47): Show c.556+13190_556+13191insGTTTGTTTGTTTGTTTTTTTTTTTTT TG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44			chr3	TogoVar
MED12L_chr3_151080664_151441653	151141174	T T	TTTTTGTT others(21): Show TTTTTGTTTGTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG03540.hp1 others(2): Show HG02145.hp1 HG03453.hp2 HG03540.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0018 a0001c0030 a0001c0007 a0001c0018 a0001c0030	a0001c0007t0007 a0001c0007t0009 a0001c0007t0032 others(2): Show a0001c0007t0007 a0001c0007t0009 a0001c0007t0032 a0001c0018t0002 a0001c0030t0001	a0001c0007t0007g0033 a0001c0007t0009g0035 a0001c0007t0032g0032 others(2): Show a0001c0007t0007g0033 a0001c0007t0009g0035 a0001c0007t0032g0032 a0001c0018t0002g0038 a0001c0030t0001g0037	5	280	0.0179	28	c.556 others(47): Show c.556+13193_556+13194insTGTTTGTTTGTTTTTTTTTTTTTTGT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151141180	T T	TTTTTTTT others(21): Show TTTTTTTTTTGTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	280	0.0036	28	c.556 others(47): Show c.556+13202_556+13203insTTTGTTTTTTTTTTTTTTTTTGTTTT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151141181	T T	TGTTTGTT others(21): Show TGTTTGTTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG03209.hp1 others(1): Show HG02486.hp2 HG02895.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0018 a0001c0007 a0001c0018	a0001c0007t0007 a0001c0018t0009 a0001c0007t0007 a0001c0018t0009	a0001c0007t0007g0034 a0001c0007t0007g0036 a0001c0007t0007g0128 others(1): Show a0001c0007t0007g0034 a0001c0007t0007g0036 a0001c0007t0007g0128 a0001c0018t0009g0028	4	280	0.0143	28	c.556 others(47): Show c.556+13197_556+13198insGTTTGTTTTTTTTTTTTTTGTTTTTT TG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44			chr3	TogoVar
MED12L_chr3_151080664_151441653	151141181	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	280	0.0036	28	c.556 others(47): Show c.556+13202_556+13203insTTTTTTTTTTTTTTGTTTTTTTGTTT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151141187	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03688.hp2 HG03017.hp1 HG03688.hp2	a0001 a0001	a0001c0007 a0001c0032 a0001c0007 a0001c0032	a0001c0007t0001 a0001c0032t0035 a0001c0007t0001 a0001c0032t0035	a0001c0007t0001g0040 a0001c0032t0035g0130 a0001c0007t0001g0040 a0001c0032t0035g0130	2	280	0.0071	28	c.556 others(47): Show c.556+13216_556+13217insTGTTTTTTTTTTTTTTTTTTTTTTTT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151141187	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0041 a0001c0007t0015g0041	1	280	0.0036	28	c.556 others(47): Show c.556+13216_556+13217insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151141190	T T	TTTGTTTT others(21): Show TTTGTTTTTTTTGTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0031 a0001c0031t0031	a0001c0031t0031g0129 a0001c0031t0031g0129	1	280	0.0036	28	c.556 others(47): Show c.556+13208_556+13209insGTTTTTTTTGTTTTTTTGTTTTTTTG TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151309114	T T	TACACACA others(21): Show TACACACACACACACACACACACACACGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0135 a0001c0009t0012g0135	1	280	0.0036	28	c.225 others(49): Show c.2251-40941_2251-40940insACACACACACACACACACACACGC ACAC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116031759	A A	AGAAAAGA others(21): Show AGAAAAGAAAAGAAAAGAAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	254	0.0039	28	c.480 others(45): Show c.480-9159_480-9158insCTTCCTTCTTTTCTTTTCTTTTCTTTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA19079.hp1 HG00673.hp1 HG02071.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0170 a0001c0001t0001g0218 a0001c0001t0003g0020 a0001c0001t0001g0170 a0001c0001t0001g0218 a0001c0001t0003g0020	3	254	0.0118	28	c.479 others(43): Show c.479+314_479+315insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	254	0.0039	28	c.311 others(47): Show c.311-36540_311-36539insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116210551	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18979.hp2 NA18955.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0089 a0001c0001t0001g0091	2	254	0.0079	28	c.310 others(47): Show c.310+26889_310+26916dupTATATATATATATATATATATATATA TA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62008317	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0009 a0001c0007t0005g0009	1	326	0.0031	28	c.196 others(47): Show c.1967+2232_1967+2233insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62066979	T T	TTTATGTA others(21): Show TTTATGTATTACAGATACATAATTATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02280.hp1 HG03540.hp1 others(1): Show HG01261.hp2 HG02280.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0245	4	326	0.0123	28	c.-17 others(39): Show c.-1775_-1774insTACATAATTATGTATCTGTAATACATAA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding		1702		chr17	TogoVar
MED19_chr11_57698710_57717215	57702423	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	380	0.0026	28	c.16 others(39): Show c.1614_*1615insATATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1286		chr11	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	380	0.0026	28	c.16 others(39): Show c.1612_*1613insATATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1284		chr11	TogoVar
MED20_chr6_41900354_41926139	41915789	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02630.hp2 HG02922.hp2 others(2): Show HG02135.hp2 HG02630.hp2 HG02922.hp2 HG03540.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0085 a0001c0001t0002g0112 a0001c0001t0002g0114 others(2): Show a0001c0001t0002g0085 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0008g0099 a0001c0001t0009g0096	5	444	0.0113	28	c.169 others(43): Show c.169+995_169+996insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MED20	ENSG00000124641.16	transcript	ENST00000265350.9	protein_coding	2/3			chr6	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp1 HG03688.hp1 others(2): Show HG00438.hp1 HG02165.hp1 HG03688.hp1 HG03834.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0210 a0001c0001t0001g0242 a0001c0001t0002g0076	5	274	0.0183	28	c.480 others(47): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02300.hp2 NA18947.hp2 HG02135.hp2 HG02300.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0004g0004 a0001c0001t0004g0142 a0001c0001t0001g0086 a0001c0001t0004g0004 a0001c0001t0004g0142	3	348	0.0086	28	c.72 others(37): Show c.721_*722insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MED31_chr17_6638311_6656605	6651120	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	428	0.0023	28	c.28+ others(41): Show c.28+380_28+381insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED31	ENSG00000108590.11	transcript	ENST00000225728.8	protein_coding	1/3			chr17	TogoVar
MEF2A_chr15_99560984_99721488	99695541	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 NA18984.hp2 others(1): Show HG00408.hp1 HG00558.hp2 NA18984.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0002 a0001c0001 a0001c0017 a0002c0002	a0001c0001t0001 a0001c0017t0001 a0002c0002t0060 a0001c0001t0001 a0001c0017t0001 a0002c0002t0060	a0001c0001t0001g0179 a0001c0001t0001g0247 a0001c0017t0001g0123 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0247 a0001c0017t0001g0123 a0002c0002t0060g0202	4	376	0.0106	28	c.858 others(45): Show c.858+5115_858+5142dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG06807.hp1 HG02886.hp1 HG03453.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0120 a0002c0004t0001g0008 a0002c0004t0001g0119 a0001c0001t0001g0120 a0002c0004t0001g0008 a0002c0004t0001g0119	3	404	0.0074	28	c.-42 others(39): Show c.-4211_-4210insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar

Search by Variant

Search

Search Results