Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
MAGEB16_chrX_35793342_35808772	35802549	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	1	288	0.0035	-1	c.359 others(4): Show c.359delT	p.Leu others(5): Show p.Leu120fs	MAGEB16	ENSG00000189023.11	transcript	ENST00000399988.6	protein_coding	2/2	502/1719	359/975	120/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB16_chrX_35793342_35808772	35802561	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG02027.hp1 NA19066.hp1 HG02027.hp1 NA19066.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	2	288	0.0069	-1	c.368 others(4): Show c.368delT	p.Phe others(5): Show p.Phe123fs	MAGEB16	ENSG00000189023.11	transcript	ENST00000399988.6	protein_coding	2/2	511/1719	368/975	123/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170385	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	-1	c.5de others(2): Show c.5delC	p.Pro others(3): Show p.Pro2fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	357/1434	5/1011	2/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170457	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	1	c.75_ others(6): Show c.75_76insA	p.Gly others(4): Show p.Gly26fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	428/1434	76/1011	26/336		chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170488	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	1	c.110 others(4): Show c.110dupA	p.Leu others(4): Show p.Leu38fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	463/1434	111/1011	37/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0010 a0005c0004t0001g0010	1	282	0.0036	1	c.176 others(4): Show c.176dupC	p.Gln others(4): Show p.Gln60fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	529/1434	177/1011	59/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170655	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	1	c.276 others(4): Show c.276dupC	p.Asn others(4): Show p.Asn93fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	629/1434	277/1011	93/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170694	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	-1	c.314 others(4): Show c.314delG	p.Gly others(5): Show p.Gly105fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	666/1434	314/1011	105/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170704	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	-1	c.324 others(4): Show c.324delT	p.Leu others(5): Show p.Leu109fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	676/1434	324/1011	108/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170891	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	-1	c.513 others(4): Show c.513delC	p.Ser others(5): Show p.Ser172fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	865/1434	513/1011	171/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16170973	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	282	0.0036	1	c.591 others(8): Show c.591_592insT	p.Leu others(5): Show p.Leu198fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	944/1434	592/1011	198/336		chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16171105	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	-1	c.727 others(4): Show c.727delC	p.Gln others(5): Show p.Gln243fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	1079/1434	727/1011	243/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16171149	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	-1	c.769 others(4): Show c.769delG	p.Glu others(5): Show p.Glu257fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	1121/1434	769/1011	257/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB17_chrX_16162481_16176464	16171274	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0015 a0003c0007t0001g0015	1	282	0.0036	1	c.894 others(4): Show c.894dupC	p.Ser others(5): Show p.Ser299fs	MAGEB17	ENSG00000182798.10	transcript	ENST00000400004.6	protein_coding	2/2	1247/1434	895/1011	299/336	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB18_chrX_26133343_26145736	26139234	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0001 a0007c0004t0002g0001	1	326	0.0031	-1	c.251 others(4): Show c.251delG	p.Gly others(4): Show p.Gly84fs	MAGEB18	ENSG00000176774.6	transcript	ENST00000325250.2	protein_coding	2/3	438/1812	251/1032	84/343	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB18_chrX_26133343_26145736	26139239	C C	CTTTCT CTTTCT	frameshift_variant frameshift_variant	HIGH	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0001 a0007c0004t0002g0001	1	326	0.0031	5	c.254 others(12): Show c.254_255insTTTCT	p.Ser others(4): Show p.Ser86fs	MAGEB18	ENSG00000176774.6	transcript	ENST00000325250.2	protein_coding	2/3	442/1812	255/1032	85/343		chrX	TogoVar
MAGEB18_chrX_26133343_26145736	26139248	A A	ACC ACC	frameshift_variant frameshift_variant	HIGH	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0001 a0007c0004t0002g0001	1	326	0.0031	2	c.263 others(9): Show c.263_264insCC	p.Gln others(4): Show p.Gln88fs	MAGEB18	ENSG00000176774.6	transcript	ENST00000325250.2	protein_coding	2/3	451/1812	264/1032	88/343		chrX	TogoVar
MAGEB18_chrX_26133343_26145736	26139274	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19009.hp1 NA19009.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0006 a0006c0005t0005g0006	1	326	0.0031	-1	c.292 others(4): Show c.292delG	p.Glu others(4): Show p.Glu98fs	MAGEB18	ENSG00000176774.6	transcript	ENST00000325250.2	protein_coding	2/3	479/1812	292/1032	98/343	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB1_chrX_30242146_30257040	30251252	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0030 a0005c0006t0009g0030	1	338	0.0030	1	c.760 others(4): Show c.760dupT	p.Tyr others(5): Show p.Tyr254fs	MAGEB1	ENSG00000214107.9	transcript	ENST00000397548.4	protein_coding	2/2	932/1718	761/1044	254/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB1_chrX_30242146_30257040	30251285	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0030 a0005c0006t0009g0030	1	338	0.0030	1	c.797 others(4): Show c.797dupC	p.Arg others(5): Show p.Arg267fs	MAGEB1	ENSG00000214107.9	transcript	ENST00000397548.4	protein_coding	2/2	969/1718	798/1044	266/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB1_chrX_30242146_30257040	30251392	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0030 a0005c0006t0009g0030	1	338	0.0030	-1	c.902 others(4): Show c.902delC	p.Pro others(5): Show p.Pro301fs	MAGEB1	ENSG00000214107.9	transcript	ENST00000397548.4	protein_coding	2/2	1073/1718	902/1044	301/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30218618	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0029 a0005c0012t0009g0029	1	320	0.0031	1	c.39d others(3): Show c.39dupG	p.Lys others(4): Show p.Lys14fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	138/1607	40/960	14/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30218963	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0029 a0005c0012t0009g0029	1	320	0.0031	-1	c.389 others(4): Show c.389delA	p.Lys others(5): Show p.Lys130fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	487/1607	389/960	130/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30219016	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0029 a0005c0012t0009g0029	1	320	0.0031	1	c.439 others(4): Show c.439dupG	p.Glu others(5): Show p.Glu147fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	538/1607	440/960	147/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30219166	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0001 a0009c0008t0001g0001	1	320	0.0031	-1	c.589 others(4): Show c.589delG	p.Asp others(5): Show p.Asp197fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	687/1607	589/960	197/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30219450	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0037 a0006c0010t0001g0037	1	320	0.0031	1	c.875 others(4): Show c.875dupT	p.Leu others(5): Show p.Leu292fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	974/1607	876/960	292/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30219450	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0029 a0005c0012t0009g0029	1	320	0.0031	-1	c.875 others(4): Show c.875delT	p.Leu others(5): Show p.Leu292fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	973/1607	875/960	292/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB2_chrX_30210563_30225089	30219475	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19083.hp1 NA19078.hp2 NA19083.hp1	a0005 a0009 a0005 a0009	a0005c0012 a0009c0008 a0005c0012 a0009c0008	a0005c0012t0009 a0009c0008t0001 a0005c0012t0009 a0009c0008t0001	a0005c0012t0009g0029 a0009c0008t0001g0001 a0005c0012t0009g0029 a0009c0008t0001g0001	2	320	0.0063	1	c.900 others(4): Show c.900dupC	p.Cys others(5): Show p.Cys301fs	MAGEB2	ENSG00000099399.6	transcript	ENST00000378988.5	protein_coding	2/2	999/1607	901/960	301/319	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236061	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18992.hp1 NA18992.hp1	a0011 a0011	a0011c0004 a0011c0004	a0011c0004t0001 a0011c0004t0001	a0011c0004t0001g0071 a0011c0004t0001g0071	1	338	0.0030	-1	c.142 others(4): Show c.142delG	p.Ala others(4): Show p.Ala48fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	658/2087	142/1041	48/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236488	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0086 a0009c0011t0002g0086	1	338	0.0030	1	c.566 others(4): Show c.566dupA	p.Asn others(5): Show p.Asn189fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	1083/2087	567/1041	189/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236518	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0086 a0009c0011t0002g0086	1	338	0.0030	-1	c.597 others(4): Show c.597delC	p.Lys others(5): Show p.Lys200fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	1113/2087	597/1041	199/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236547	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18993.hp2 NA18993.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0001 a0006c0008t0001g0001	1	338	0.0030	-1	c.626 others(4): Show c.626delG	p.Gly others(5): Show p.Gly209fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	1142/2087	626/1041	209/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236647	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19059.hp2 NA19059.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0005 a0008c0009t0005	a0008c0009t0005g0063 a0008c0009t0005g0063	1	338	0.0030	-1	c.727 others(4): Show c.727delG	p.Glu others(5): Show p.Glu243fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	1243/2087	727/1041	243/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236782	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0008 a0007c0010t0008	a0007c0010t0008g0064 a0007c0010t0008g0064	1	338	0.0030	-1	c.860 others(4): Show c.860delA	p.Lys others(5): Show p.Lys287fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	1376/2087	860/1041	287/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30236954	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0008 a0007c0010t0008	a0007c0010t0008g0064 a0007c0010t0008g0064	1	338	0.0030	-1	c.103 others(5): Show c.1033delC	p.His others(5): Show p.His345fs	MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	5/5	1549/2087	1033/1041	345/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB4_chrX_30237000_30249187	30242199	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0007 a0008c0008t0007	a0008c0008t0007g0000 a0008c0008t0007g0000	1	345	0.0029	-1	c.67d others(3): Show c.67delC	p.Gln others(4): Show p.Gln23fs	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding	1/1	203/2188	67/1041	23/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB4_chrX_30237000_30249187	30242268	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0007 a0008c0008t0007	a0008c0008t0007g0000 a0008c0008t0007g0000	1	345	0.0029	1	c.137 others(4): Show c.137dupT	p.Leu others(4): Show p.Leu46fs	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding	1/1	274/2188	138/1041	46/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB4_chrX_30237000_30249187	30242333	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0007 a0008c0008t0007	a0008c0008t0007g0000 a0008c0008t0007g0000	1	345	0.0029	-1	c.201 others(4): Show c.201delC	p.Thr others(4): Show p.Thr68fs	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding	1/1	337/2188	201/1041	67/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB4_chrX_30237000_30249187	30242401	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0000 a0007c0009t0001g0000	1	345	0.0029	-1	c.268 others(4): Show c.268delG	p.Glu others(4): Show p.Glu90fs	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding	1/1	404/2188	268/1041	90/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB4_chrX_30237000_30249187	30242644	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0000 a0005c0011t0001g0000	1	345	0.0029	-1	c.513 others(4): Show c.513delC	p.Thr others(5): Show p.Thr172fs	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding	1/1	649/2188	513/1041	171/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB4_chrX_30237000_30249187	30242695	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0007 a0008c0008t0007	a0008c0008t0007g0000 a0008c0008t0007g0000	1	345	0.0029	-1	c.563 others(4): Show c.563delA	p.Asn others(5): Show p.Asn188fs	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding	1/1	699/2188	563/1041	188/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB6B_chrX_26155601_26167410	26161387	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19078.hp1 NA19078.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	340	0.0029	1	c.790 others(4): Show c.790dupC	p.Leu others(5): Show p.Leu264fs	MAGEB6B	ENSG00000232030.4	transcript	ENST00000416929.3	protein_coding	1/1	791/1810	791/1224	264/407	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB6_chrX_26187440_26200646	26193849	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0002 a0006c0016t0002g0002	1	320	0.0031	-1	c.5de others(2): Show c.5delC	p.Pro others(3): Show p.Pro2fs	MAGEB6	ENSG00000176746.6	transcript	ENST00000379034.1	protein_coding	2/2	154/1949	5/1224	2/407	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905580	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0181 a0181	a0181c0069 a0181c0069	a0181c0069t0006 a0181c0069t0006	a0181c0069t0006g0018 a0181c0069t0006g0018	1	359	0.0028	-1	c.181 others(4): Show c.181delG	p.Glu others(4): Show p.Glu61fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	467/4256	181/3429	61/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905843	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0181 a0181	a0181c0069 a0181c0069	a0181c0069t0006 a0181c0069t0006	a0181c0069t0006g0018 a0181c0069t0006g0018	1	359	0.0028	-1	c.443 others(4): Show c.443delC	p.Pro others(5): Show p.Pro148fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	729/4256	443/3429	148/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141907064	CAG CAG	C C	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0116 a0116	a0116c0131 a0116c0131	a0116c0131t0001 a0116c0131t0001	a0116c0131t0001g0001 a0116c0131t0001g0001	1	359	0.0028	-2	c.166 others(11): Show c.1661_1662delAG	p.Gln others(5): Show p.Gln554fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1947/4256	1661/3429	554/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141908387	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0099 a0099	a0099c0155 a0099c0155	a0099c0155t0001 a0099c0155t0001	a0099c0155t0001g0001 a0099c0155t0001g0001	1	359	0.0028	1	c.298 others(5): Show c.2986dupC	p.Gln others(5): Show p.Gln996fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	3273/4256	2987/3429	996/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141908612	CTGTG CTGTG	C C	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0099 a0099	a0099c0155 a0099c0155	a0099c0155t0001 a0099c0155t0001	a0099c0155t0001g0001 a0099c0155t0001g0001	1	359	0.0028	-4	c.320 others(13): Show c.3209_3212delTGTG	p.Leu others(6): Show p.Leu1070fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	3495/4256	3209/3429	1070/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141908681	A A	AATAC AATAC	frameshift_variant frameshift_variant	HIGH	HG02056.hp1 HG02056.hp1	a0168 a0168	a0168c0089 a0168c0089	a0168c0089t0001 a0168c0089t0001	a0168c0089t0001g0001 a0168c0089t0001g0001	1	359	0.0028	4	c.327 others(13): Show c.3278_3281dupATAC	p.Val others(6): Show p.Val1095fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	3568/4256	3282/3429	1094/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141908721	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0181 a0181	a0181c0069 a0181c0069	a0181c0069t0006 a0181c0069t0006	a0181c0069t0006g0018 a0181c0069t0006g0018	1	359	0.0028	-1	c.332 others(5): Show c.3320delT	p.Leu others(6): Show p.Leu1107fs	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	3606/4256	3320/3429	1107/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 5828 hits)