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 (≤).

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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
HSFX1_chrX_149769068_149781867	149775093	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	-1	c.415 others(4): Show c.415delG	p.Asp others(5): Show p.Asp139fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	1/2	1029/1963	415/1272	139/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776142	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	-1	c.626 others(4): Show c.626delA	p.Lys others(5): Show p.Lys209fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1240/1963	626/1272	209/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776292	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	-1	c.776 others(4): Show c.776delC	p.Pro others(5): Show p.Pro259fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1390/1963	776/1272	259/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776301	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0001 a0006c0016t0001g0001	1	253	0.0040	1	c.786 others(4): Show c.786dupC	p.Asn others(5): Show p.Asn263fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1401/1963	787/1272	263/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776439	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18966.hp1 NA18966.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0005 a0015c0017t0001g0005	1	253	0.0040	1	c.923 others(4): Show c.923dupC	p.Val others(5): Show p.Val309fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1538/1963	924/1272	308/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776457	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	-1	c.942 others(4): Show c.942delG	p.Pro others(5): Show p.Pro315fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1556/1963	942/1272	314/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776545	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	-1	c.103 others(5): Show c.1030delC	p.Arg others(5): Show p.Arg344fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1644/1963	1030/1272	344/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX1_chrX_149769068_149781867	149776659	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	1	c.114 others(5): Show c.1143dupC	p.Ser others(5): Show p.Ser382fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	2/2	1758/1963	1144/1272	382/423	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592616	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.124 others(5): Show c.1247delC	p.Pro others(5): Show p.Pro416fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1861/1966	1247/1272	416/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592629	GGC GGC	G G	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-2	c.123 others(11): Show c.1233_1234delGC	p.Gln others(5): Show p.Gln413fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1848/1966	1233/1272	411/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592642	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0007 a0007c0019t0007	a0007c0019t0007g0028 a0007c0019t0007g0028	1	279	0.0036	-1	c.122 others(5): Show c.1221delA	p.Ala others(5): Show p.Ala408fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1835/1966	1221/1272	407/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592671	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.119 others(5): Show c.1192delC	p.His others(5): Show p.His398fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1806/1966	1192/1272	398/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592694	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0003 a0017c0018t0003	a0017c0018t0003g0013 a0017c0018t0003g0013	1	279	0.0036	-1	c.116 others(5): Show c.1169delC	p.Pro others(5): Show p.Pro390fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1783/1966	1169/1272	390/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592701	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0020 a0015c0013t0001g0020	1	279	0.0036	-1	c.116 others(5): Show c.1162delC	p.His others(5): Show p.His388fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1776/1966	1162/1272	388/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592717	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.114 others(5): Show c.1146delC	p.Met others(5): Show p.Met383fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1760/1966	1146/1272	382/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592737	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18968.hp2 NA18968.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0008 a0000c0009t0008	a0000c0009t0008g0029 a0000c0009t0008g0029	1	279	0.0036	-1	c.112 others(5): Show c.1126delG	p.Ala others(5): Show p.Ala376fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1740/1966	1126/1272	376/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592764	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.109 others(5): Show c.1099delG	p.Val others(5): Show p.Val367fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1713/1966	1099/1272	367/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592780	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.108 others(5): Show c.1083delC	p.Cys others(5): Show p.Cys363fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1697/1966	1083/1272	361/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592815	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.104 others(5): Show c.1048delG	p.Asp others(5): Show p.Asp350fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1662/1966	1048/1272	350/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149592980	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0007 a0007c0019t0007	a0007c0019t0007g0028 a0007c0019t0007g0028	1	279	0.0036	1	c.883 others(4): Show c.883dupG	p.Ala others(5): Show p.Ala295fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1497/1966	883/1272	295/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149593083	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0006 a0014c0014t0006	a0014c0014t0006g0016 a0014c0014t0006g0016	1	279	0.0036	1	c.780 others(4): Show c.780dupC	p.Gly others(5): Show p.Gly261fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1394/1966	780/1272	260/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149593186	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0020 a0015c0013t0001g0020	1	279	0.0036	-1	c.677 others(4): Show c.677delC	p.Pro others(5): Show p.Pro226fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1291/1966	677/1272	226/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149593268	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0007 a0007c0019t0007	a0007c0019t0007g0028 a0007c0019t0007g0028	1	279	0.0036	-1	c.595 others(4): Show c.595delA	p.Arg others(5): Show p.Arg199fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1209/1966	595/1272	199/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594159	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0003 a0017c0018t0003	a0017c0018t0003g0013 a0017c0018t0003g0013	1	279	0.0036	1	c.541 others(4): Show c.541dupA	p.Arg others(5): Show p.Arg181fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1155/1966	541/1272	181/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594170	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.530 others(4): Show c.530delT	p.Phe others(5): Show p.Phe177fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1144/1966	530/1272	177/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594177	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0007 a0007c0019t0007	a0007c0019t0007g0028 a0007c0019t0007g0028	1	279	0.0036	1	c.523 others(4): Show c.523dupC	p.Arg others(5): Show p.Arg175fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1137/1966	523/1272	175/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594198	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0003 a0017c0018t0003	a0017c0018t0003g0013 a0017c0018t0003g0013	1	279	0.0036	1	c.502 others(4): Show c.502dupT	p.Cys others(5): Show p.Cys168fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1116/1966	502/1272	168/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594208	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0003 a0017c0018t0003	a0017c0018t0003g0013 a0017c0018t0003g0013	1	279	0.0036	-1	c.492 others(4): Show c.492delA	p.Lys others(5): Show p.Lys164fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1106/1966	492/1272	164/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594239	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19087.hp1 NA19087.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0002 a0018c0011t0002	a0018c0011t0002g0012 a0018c0011t0002g0012	1	279	0.0036	-1	c.461 others(4): Show c.461delT	p.Phe others(5): Show p.Phe154fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1075/1966	461/1272	154/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594311	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG01257.hp1 HG01257.hp1	a0019 a0019	a0019c0010 a0019c0010	a0019c0010t0001 a0019c0010t0001	a0019c0010t0001g0017 a0019c0010t0001g0017	1	279	0.0036	-1	c.389 others(4): Show c.389delT	p.Leu others(5): Show p.Leu130fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	1003/1966	389/1272	130/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149594644	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0007 a0007c0019t0007	a0007c0019t0007g0028 a0007c0019t0007g0028	1	279	0.0036	-1	c.56d others(3): Show c.56delG	p.Gly others(4): Show p.Gly19fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	1/2	670/1966	56/1272	19/423		chrX	TogoVar
HSFX3_chrX_149543210_149554924	149548582	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	332	0.0030	-1	c.811 others(4): Show c.811delG	p.Glu others(5): Show p.Glu271fs	HSFX3	ENSG00000283697.3	transcript	ENST00000431993.4	protein_coding	2/2	883/1256	811/1002	271/333		chrX	TogoVar
HSFX3_chrX_149543210_149554924	149548881	GTC GTC	G G	frameshift_variant frameshift_variant	HIGH	HG02109.hp2 HG02109.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0010 a0007c0008t0001g0010	1	332	0.0030	-2	c.511 others(9): Show c.511_512delGA	p.Asp others(5): Show p.Asp171fs	HSFX3	ENSG00000283697.3	transcript	ENST00000431993.4	protein_coding	2/2	584/1256	511/1002	171/333		chrX	TogoVar
HSFX3_chrX_149543210_149554924	149549833	T T	TTCAA TTCAA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	332	0.0030	4	c.19_ others(9): Show c.19_20insTTGA	p.Glu others(3): Show p.Glu7fs	HSFX3	ENSG00000283697.3	transcript	ENST00000431993.4	protein_coding	1/2	91/1256	19/1002	7/333		chrX	TogoVar
HSFX4_chrX_149924573_149936287	149930801	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0001 a0003c0009t0001g0001	1	301	0.0033	1	c.702 others(4): Show c.702dupG	p.Pro others(5): Show p.Pro235fs	HSFX4	ENSG00000283463.2	transcript	ENST00000457775.3	protein_coding	2/2	775/1256	703/1002	235/333	INFO_REALIGN_3_PRIME	chrX	TogoVar
HSFX4_chrX_149924573_149936287	149930854	AGTGCCAC others(57): Show AGTGCCACTAGGCATCCCCTGGGAAATGGGCCCCCTCAGGAACCAAATGG CCCAAGTTGGGAGGG	A A	frameshift_variant frameshift_variant	HIGH	HG02897.hp2 HG02897.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	301	0.0033	-64	c.752 others(71): Show c.752_815delGTGCCACTAGGCATCCCCTGGGAAATGGGCCCCCTCAG GAACCAAATGGCCCAAGTTGGGAGGG	p.Ser others(5): Show p.Ser251fs	HSFX4	ENSG00000283463.2	transcript	ENST00000457775.3	protein_coding	2/2	824/1256	752/1002	251/333		chrX	TogoVar
HSFY1_chrY_18541720_18553592	18546818	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	50	0.0200	-1	c.34d others(3): Show c.34delT	p.Ser others(4): Show p.Ser12fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	1/2	102/1395	34/1206	12/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18546853	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	50	0.0200	1	c.67d others(3): Show c.67dupT	p.Ser others(4): Show p.Ser23fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	1/2	136/1395	68/1206	23/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547013	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	50	0.0200	1	c.229 others(4): Show c.229dupT	p.Ser others(4): Show p.Ser77fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	1/2	298/1395	230/1206	77/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547079	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18960.hp1 NA18960.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0006 a0005c0003t0001g0006	1	50	0.0200	-1	c.295 others(4): Show c.295delG	p.Asp others(4): Show p.Asp99fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	1/2	363/1395	295/1206	99/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547185	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	50	0.0200	1	c.402 others(4): Show c.402dupT	p.Val others(5): Show p.Val135fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	1/2	471/1395	403/1206	135/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547194	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	50	0.0200	1	c.408 others(4): Show c.408dupA	p.Gln others(5): Show p.Gln137fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	1/2	477/1395	409/1206	137/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547801	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	50	0.0200	-1	c.539 others(4): Show c.539delT	p.Phe others(5): Show p.Phe180fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	2/2	607/1395	539/1206	180/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547817	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0007 a0003c0005t0001g0007	1	50	0.0200	-1	c.556 others(4): Show c.556delC	p.Gln others(5): Show p.Gln186fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	2/2	624/1395	556/1206	186/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18547856	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0007 a0003c0005t0001g0007	1	50	0.0200	-1	c.596 others(4): Show c.596delA	p.Asn others(5): Show p.Asn199fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	2/2	664/1395	596/1206	199/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSFY1_chrY_18541720_18553592	18548365	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	50	0.0200	-1	c.110 others(5): Show c.1103delC	p.Pro others(5): Show p.Pro368fs	HSFY1	ENSG00000172468.14	transcript	ENST00000307393.3	protein_coding	2/2	1171/1395	1103/1206	368/401	INFO_REALIGN_3_PRIME	chrY	TogoVar
HSPA1A_chr6_31810543_31822942	31815750	AACCGGCA others(7185): Show AACCGGCATGGCCAAAGCCGCGGCGATCGGCATCGACCTGGGCACCACCT ACTCCTGCGTGGGGGTGTTCCAACACGGCAAGGTGGAGATCATCGCCAAC GACCAGGGCAACCGCACCACCCCCAGCTACGTGGCCTTCACGGACACCGA GCGGCTCATCGGGGATGCGGCCAAGAACCAGGTGGCGCTGAACCCGCAGA ACACCGTGTTTGACGCGAAGCGGCTGATTGGCCGCAAGTTCGGCGACCCG GTGGTGCAGTCGGACATGAAGCACTGGCCTTTCCAGGTGATCAACGACGG AGACAAGCCCAAGGTGCAGGTGAGCTACAAGGGGGAGACCAAGGCATTCT ACCCCGAGGAGATCTCGTCCATGGTGCTGACCAAGATGAAGGAGATCGCC GAGGCGTACCTGGGCTACCCGGTGACCAACGCGGTGATCACCGTGCCGGC CTACTTCAACGACTCGCAGCGCCAGGCCACCAAGGATGCGGGTGTGATCG CGGGGCTCAACGTGCTGCGGATCATCAACGAGCCCACGGCCGCCGCCATC GCCTACGGCCTGGACAGAACGGGCAAGGGGGAGCGCAACGTGCTCATCTT TGACCTGGGCGGGGGCACCTTCGACGTGTCCATCCTGACGATCGACGACG GCATCTTCGAGGTGAAGGCCACGGCCGGGGACACCCACCTGGGTGGGGAG GACTTTGACAACAGGCTGGTGAACCACTTCGTGGAGGAGTTCAAGAGAAA ACACAAGAAGGACATCAGCCAGAACAAGCGAGCCGTGAGGCGGCTGCGCA CCGCCTGCGAGAGGGCCAAGAGGACCCTGTCGTCCAGCACCCAGGCCAGC CTGGAGATCGACTCCCTGTTTGAGGGCATCGACTTCTACACGTCCATCAC CAGGGCGAGGTTCGAGGAGCTGTGCTCCGACCTGTTCCGAAGCACCCTGG AGCCCGTGGAGAAGGCTCTGCGCGACGCCAAGCTGGACAAGGCCCAGATT CACGACCTGGTCCTGGTCGGGGGCTCCACCCGCATCCCCAAGGTGCAGAA GCTGCTGCAGGACTTCTTCAACGGGCGCGACCTGAACAAGAGCATCAACC CCGACGAGGCTGTGGCCTACGGGGCGGCGGTGCAGGCGGCCATCCTGATG GGGGACAAGTCCGAGAACGTGCAGGACCTGCTGCTGCTGGACGTGGCTCC CCTGTCGCTGGGGCTGGAGACGGCCGGAGGCGTGATGACTGCCCTGATCA AGCGCAACTCCACCATCCCCACCAAGCAGACGCAGATCTTCACCACCTAC TCCGACAACCAACCCGGGGTGCTGATCCAGGTGTACGAGGGCGAGAGGGC CATGACGAAAGACAACAATCTGTTGGGGCGCTTCGAGCTGAGCGGCATCC CTCCGGCCCCCAGGGGCGTGCCCCAGATCGAGGTGACCTTCGACATCGAT GCCAACGGCATCCTGAACGTCACGGCCACGGACAAGAGCACCGGCAAGGC CAACAAGATCACCATCACCAACGACAAGGGCCGCCTGAGCAAGGAGGAGA TCGAGCGCATGGTGCAGGAGGCGGAGAAGTACAAAGCGGAGGACGAGGTG CAGCGCGAGAGGGTGTCAGCCAAGAACGCCCTGGAGTCCTACGCCTTCAA CATGAAGAGCGCCGTGGAGGATGAGGGGCTCAAGGGCAAGATCAGCGAGG CGGACAAGAAGAAGGTGCTGGACAAGTGTCAAGAGGTCATCTCGTGGCTG GACGCCAACACCTTGGCCGAGAAGGACGAGTTTGAGCACAAGAGGAAGGA GCTGGAGCAGGTGTGTAACCCCATCATCAGCGGACTGTACCAGGGTGCCG GTGGTCCCGGGCCTGGGGGCTTCGGGGCTCAGGGTCCCAAGGGAGGGTCT GGGTCAGGCCCCACCATTGAGGAGGTAGATTAGGGGCCTTTCCAAGATTG CTGTTTTTGTTTTGGAGCTTCAAGACTTTGCATTTCCTAGTATTTCTGTT TGTCAGTTCTCAATTTCCTGTGTTTGCAATGTTGAAATTTTTTGGTGAAG TACTGAACTTGCTTTTTTTCCGGTTTCTACATGCAGAGATGAATTTATAC TGCCATCTTACGACTATTTCTTCTTTTTAATACACTTAACTCAGGCCATT TTTTAAGTTGGTTACTTCAAAGTAAATAAACTTTAAAATTCAAGTGATGC CTTTTATTCCTTTATTTGGGGGTCAGTAGGGTCTGCATAGGTTGTTTTTC CCATAGCGTCTAAAATGGAATGGCATTTTTGCTTCCAGTAAGGGCAGATT TTGCAGAGGTGTGACTATTGTAATGTGATCCATTTGTGTTAGACAAATGG TATCCTCCAGTAAAGCTTCTTGATTCTGGCCAGGAGTGGTGGCTCAAGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCA GGAGTTCCAGACCAACCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAA AACACAAAAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGGGAG GCTGAGGCAGGAGAATCGTGTGAACCCAGGAAGCAGTGGTAGCAGTGAGC CGAGATCACGCCATTGCACTCTAGCCTGGGCATCACAGCAAGACTCCGTC TCACACACACACACAAAAAAGTAAAGTTTGTTGATGCTGATTGGGTTTAG CCTGAGGGTACAGAAAAAGTTTAACACCTGGGAGGGTAGCCTTAAAGTGA TGTTTGTGTAAGATTGGTCTCAAAAGAGGTGGGAGGGGGGCGGGGATGTT TCTGCAAAAGTGGTCAAAAAGAATGCAGTTAGATGGGAGGCCAGCGCTCC TACCTCCTGTAGGTACACCTGATATGCTCATGGACTTGATACTTAATCTA GATTCAACATGGAATGGAAGGAGTGTCCTAAATTTCAAAGTGAAAAAACG GGTACATTCACTGGCTTGCTGAGTTATACACATGTGCTTTAGTTGTCATC TTTTAAAATGGAAGGGTTTGGCTCGATGCCTCTCTCATGACTGAAAGCAT ACTGAAATAGAAATGTCACATTCTTAGCAGTTATCACCTACAATTTAAGT ACGCCAGTGAGCACCCGGGCCAGGAAGACCTACAGACTTCACTCCCATGC ACTTTCCCTTGGAGATGCTTCATGCCCCAGCCGCTAGCATCCTAGAAGTA ATTCCCTCCTCCTTGGAAAACGCCCACTACAATCCTTAAAGCTCCCGGAG TGAGCCCTTTTAAAAATGAATTGTATCTGGCCGGGCGTGCTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAGGACCCCCCCCACCACC CACCTCCTGCACTAAAAGTACAAAAATCAGCCAGGCGCGATGGTGTGCGC CTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGCGAATCGTTTGAACTC AAAGGCAGAGGTTTCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTA GGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAATTGTGTCGGCCAGG CGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGT GGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTATAATCCCAGCAACTTGGGAGGCTGAGGCAGAAGAATCGGTTGAACC CAGGAGGTGGATGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCC TGAACAATGAGTGAAATTCTGTCTCAGTGAATAAATAAATAAATAGTATC TAAGGGCGATGAAAATGTTTTGGAACCAGAGTTGACGGTTGCATAACATT GTAAAGGTCAAGGCTGCAGTGAGCCATGACTGTACCACTGCACTCCAGCC TGAGCAACAGAGTGAGACCCTGTCTCTAAAAAAAAAAAAAAGAAAAAAAA ATCAATTGTATCAATATTACATTAAAGCACTTTATGAGCTTATGTGTACC TCAAAGCCCATCAAACCATTCACTAAATACTTGTTAATGAAGAAAATCCA GTGTTATGGGAAATGATACATAAAGGTAGACCTTGCTTTGGAAGTTTGAA AATAGAAAATAAATATGAAATGCTTAGGTTTCCAGGCCAGTCTACAGAGG AACATTTATCTCTTATGGTAGTTAAACTGTAGTACTGTGGACTCTGGCCA CAATGTAAATCAATCTTCATGGGAATATGCCTTTGCTATAGGACCTCCTC TCCCCTTCAGAGCTGCAGTAGCATTTGTGACTCTGATCTGCAGACCCTGT AGTGACTCTAAACCAGGAGCAACTACCACTACTGTGGCATGGAGTGGGGA AAAAGGTAATTGGAAAAGGGTGGAGATGGGGAAGGACCTACCAAATGCCT TTGTTGACACAGTAGAGAAGTCATCAGACATAACATTGAATGGAGGCAAT AAGAGAGTTCCTATGGCCCTATCAAGCTTATTAGTAGGTGTTTTAACAAG AAATATGTAAAAATTATTACTTGTCGGCCGGGCGTGGTGGCTCATGCCTG TAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGCTCACTAGGTCAGGAG TTCAAGACAAGCCTGGCCAAGATGGTGAAACCCCACCTCTACTAAAAATA CAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTG AGCCGAGATCGTGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACTCC GTCTCCAAAAAAAAAAAAAAAAAAAAAATTGTTTGCCTGCATACCCTAGC ACAGAGTACTGTACCTTGAAATATTCACTTTGTAACCTCAAGAAAAGACG TTGAGGGAGCTGTGGAATTAGCAAAGAGAATGCAGTGCCACCCATAAACG GAGTGATGTTTTGAGGAGCAGAGGAACTTTGAGGGAGGAAAGTGCAACAG GAAAAATAACTGCAGGTGTGGAAAAACAAATATAAATATCTTCTCAATTC CAATCACCTCCTACCTTCCTATACCAGGCCTCAGAAGGCAGCAGGCTATG ATAATAAATTTGATTTTATATGGCTTTGAACCCAGGATTTTATTTTATAA CATATACACTTACTGTTATTCCTGGTCTTCAAGAGTTCTTGTCATCCTCA AAAAGACAAAAAAGGTACCAAAACAAAAAATTAACTACAGTATTTTATAG ATGTGAGAGAAGTGGGCAGAAATAATACGGCTTTAGGCTAAAAAAGGAAA TGAGGTTATTTCTTGGGGGAGCCAATATTGGCGATTTCTGAGGGAGCGAT CCTTACGTGAATATAAAAAATTGTGACAGCCACCATTCCTCCTGCTAACT GATCTAAATCCATCCCCTTGGGAAACGCCCCTGAGGTATCTATCAGGTGT AGTTCAGCCAGAGGGAGTAAACCCACCGGGCCCTCGTCCTTTCCTAGCAC CACCATTTAAAGGGATGTTTGAGGGGTAGGGCAGCGGAGCATTCCAGACA CGGAGTTAAACCCGCCCCACCCCGCTGGCCCACGTCCAGCCCGATCAAGA ATTGGAGGAGAGAGGAGCAGGGCGTGGTGGCGCGGGCCTGGAGTCCCAGC TACCCGGGAGGCTGGGGCGGGAGGATCGCTTGAGGCTGCAGTGAGCCGTG ATTGCGCCACTGCACTCCAGTCTGGGCGACAAAGCGAGACCCTGCCTCAA AAAAAAGTGAAAAAAAAAAAAATTAGAAGGGAGGGCACCAGAGGAGGGCT GGAGCAGGTTCACAGGCTGGGACTACGGAGGAGCCCAGCAACCGAGAATC ACTCCTGAGGGTCTAATTTTCTTACTCTCCTGATGCCTCACGGGGCGAGG GACTAGAACGGGGCGCTGAGCTGGCTGTAGGCAAAAGCCAACCGACTCCA TCCCCTACTCTCCCATCAGTCGCGCGTCCCCGCGCAGACGGGTGCGCGCT GGCCGTGGGCGGTGGGGACCTTCTCTTCTCGCCTCTGGCCACCCAATGCA TCTGATTTAGTTGTATGAAAGTTACAAAATTCTCCAATATTTTCGTCTTG TAAATCACCTAGTATGAGAGAAACTCGAAAGGTCCTTTCTTTCCTCCTTT AATCCCTTTTTGGAAAAAAAAAAACATCAGAAAACGCAGGAGTCGGATAG GCAGCCCCGAAGCCAGCCCCGCCCTCAGGCCCCAGCGGCCCCGCCTTTTC TCCCCCCGCCCCCCCCCCGCACTCCCCACCTTTCCTCCCCTTTGGCTGAG GCTTTTTCCCCCGTCGCTGGCTCTGCCCGAAGTTTCTAGAGTTTTCTGAC CTTCAAGGCGAGAACTGCTGTGTCATTCTTAGGGACACTCCCCAACAAAC TGCGCCACCCGAGTCTCTCCCTCCTCTCGCCAGCCGGCCCTAAAACATCA AGGTTAGTCAGGACTCTATATTTAACGTCCGGAAGATTCTGTGAACTATA TGCCAACCTTGCCCTAGTAACGGGGCTCCCCCCTCCTTTCCCCTCTTTCT GCTTGAGCAATCTGTTCTATCGGAAAGGAGAGGCAGGGCTGGGAGAGCTG GAAGGTGGGGAAGGCAAGAGCTTGTAGGGGCCATGGTCTTGAGTCCGAAG AGCAGAGCAGCAGCCAGGACGGGAGTCCCTGGCTGATCACATACCCGTGG TGCCCTTAATGCTCGCAGAGGCCAACACTGTATTCATTTGTTTTCCTCTT TAGAGAATAAAACAATTAGGTCTAACCACAAAATTAAAAGCAAACAAAAC CCAGTTAGGTTGATGAGCCAATGTGGGAAGGAGTACAAAATGAGTGTCAG AACCCGTGGGTCCAATCACCGGTTCTGTAACCTGTCATCTGGGTAACCAG ATCAAGCCACTGAACTTCTTTGATCCTTGGTGCTGTCTTTGAAAATGAAA AGGTTTGACTGAATGGCCTGTGCCCGCAGATCTTAGGACAGTTTTTACAT TAAGCTGAAAGCAGCTGTAGTCCTAATAATGGTCCCCAACTTTTAAACAC CTAAATAAGAATGACTACGAGTCATATCCGAGAGTATGGGATC	A A	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	NA18943.hp2 NA18943.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0009 a0000c0000t0009	a0000c0000t0009g0000 a0000c0000t0009g0000	1	419	0.0024	-7192	c.-6_ others(8): Show c.-6_*5260del	p.Met others(3): Show p.Met1fs	HSPA1A	ENSG00000204389.10	transcript	ENST00000375651.7	protein_coding	1/1	209/2400	1/1926	1/641		chr6	TogoVar
HSPA1A_chr6_31810543_31822942	31816790	A A	AGCCAGGA others(4): Show AGCCAGGACCAG	frameshift_variant frameshift_variant	HIGH	NA19062.hp2 NA19062.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0000 a0005c0012t0001g0000	1	419	0.0024	11	c.103 others(20): Show c.1035_1036insCCAGGACCAGG	p.Val others(5): Show p.Val346fs	HSPA1A	ENSG00000204389.10	transcript	ENST00000375651.7	protein_coding	1/1	1250/2400	1036/1926	346/641	INFO_REALIGN_3_PRIME	chr6	TogoVar
HSPA8_chr11_123052489_123067136	123059944	A A	AGATTCCA others(4): Show AGATTCCATCCT	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0045 a0003c0010t0003g0045	1	424	0.0024	11	c.638 others(18): Show c.638_648dupAGGATGGAATC	p.Phe others(5): Show p.Phe217fs	HSPA8	ENSG00000109971.14	transcript	ENST00000534624.6	protein_coding	5/9	726/2264	648/1941	216/646		chr11	TogoVar
HSPB9_chr17_42117804_42128352	42122905	CCCAGCGT others(96): Show CCCAGCGTGGGCCTTGCTGAACGGAACCGGGTGGCCACAATGCCGGTGCG GCTGCTCAGGGACAGTCCAGCGGCTCAGGAGGACAATGACCATGCCAGAG ACGG	C C	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG00741.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0000 a0008c0007t0001g0000	1	334	0.0030	-103	c.56_ others(6): Show c.56_158del	p.Pro others(4): Show p.Pro19fs	HSPB9	ENSG00000260325.2	transcript	ENST00000565659.2	protein_coding	1/1	103/549	56/480	19/159		chr17	TogoVar

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Search Results (Total: 5828 hits)