JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0233 a0002c0002t0017g0233	1	336	0.0030	30	c.51 others(41): Show c.5150_*5151insAAAAAAAAAAAAATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 NA18994.hp2 HG02273.hp1 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0229 a0002c0002t0002g0222 a0002c0002t0002g0229	2	336	0.0060	30	c.51 others(41): Show c.5150_*5151insAAAAAAAAAAATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18983.hp2 NA19011.hp2 NA18965.hp2 NA18983.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0274 a0002c0002t0002g0309 a0002c0002t0002g0003 a0002c0002t0002g0274 a0002c0002t0002g0309	3	336	0.0089	30	c.51 others(41): Show c.5150_*5151insAAAAAAAAATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG03579.hp2 HG00733.hp1 HG01069.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0007 a0002c0002t0002 a0003c0003t0007 a0001c0001t0007 a0002c0002t0002 a0003c0003t0007	a0001c0001t0007g0086 a0002c0002t0002g0317 a0003c0003t0007g0070 a0001c0001t0007g0086 a0002c0002t0002g0317 a0003c0003t0007g0070	3	336	0.0089	30	c.51 others(41): Show c.5150_*5151insAAAAAAATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13143813	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02109.hp2 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0006 a0001c0011 a0002c0006	a0001c0011t0003 a0002c0006t0007 a0001c0011t0003 a0002c0006t0007	a0001c0011t0003g0049 a0002c0006t0007g0017 a0001c0011t0003g0049 a0002c0006t0007g0017	2	212	0.0094	30	c.134 others(51): Show c.1349-28186_1349-28157dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02630.hp1 HG02683.hp1 others(3): Show HG02074.hp1 HG02630.hp1 HG02683.hp1 HG03491.hp1 NA19007.hp1 NA20805.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0010 a0015	a0001c0001 a0001c0004 a0003c0003 others(3): Show a0001c0001 a0001c0004 a0003c0003 a0007c0009 a0010c0022 a0015c0045	a0001c0001t0036 a0001c0004t0003 a0003c0003t0006 others(3): Show a0001c0001t0036 a0001c0004t0003 a0003c0003t0006 a0007c0009t0006 a0010c0022t0004 a0015c0045t0002	a0001c0001t0036g0063 a0001c0004t0003g0053 a0003c0003t0006g0149 others(3): Show a0001c0001t0036g0063 a0001c0004t0003g0053 a0003c0003t0006g0149 a0007c0009t0006g0143 a0010c0022t0004g0187 a0015c0045t0002g0094	6	212	0.0283	30	c.134 others(49): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453387	G G	GATATATA others(23): Show GATATATATATATATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp2 HG04199.hp1 others(2): Show HG00558.hp1 HG02080.hp2 HG04199.hp1 HG04228.hp1 NA18989.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0006 a0005c0008 others(1): Show a0001c0001 a0002c0006 a0005c0008 a0007c0009	a0001c0001t0012 a0002c0006t0049 a0005c0008t0030 others(1): Show a0001c0001t0012 a0002c0006t0049 a0005c0008t0030 a0007c0009t0006	a0001c0001t0012g0207 a0001c0001t0012g0208 a0002c0006t0049g0206 others(2): Show a0001c0001t0012g0207 a0001c0001t0012g0208 a0002c0006t0049g0206 a0005c0008t0030g0171 a0007c0009t0006g0145	5	212	0.0236	30	c.102 others(51): Show c.1023+45632_1023+45661dupATATATATATATACACATATATAT ATATAT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453400	A A	ATGTGTAT others(23): Show ATGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0143 a0007c0009t0006g0143	1	212	0.0047	30	c.102 others(51): Show c.1023+45648_1023+45649insCATATATATATATATATATATATA TACACA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197070565	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0289 a0001c0001t0004g0289	1	332	0.0030	30	c.200 others(49): Show c.2006-1306_2006-1305insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	18/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	83475694	C C	CTCTTTTC others(23): Show CTCTTTTCTTTTCTCTCTTCTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	14	0.0714	30	c.229 others(49): Show c.2294-2947_2294-2918dupAAAGAAAAAAAGAAGAGAGAAAAGAA AAGA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	22/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84506079	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	14	0.0714	30	c.519 others(49): Show c.519+28490_519+28491insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84703881	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	14	0.0714	30	c.358 others(51): Show c.358-169151_358-169150insGTATATATATATATATATATATAT ATATAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01346.hp1 HG01975.hp1 others(21): Show HG01167.hp2 HG01346.hp1 HG01975.hp1 HG02056.hp1 HG02109.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02622.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG04115.hp2 NA18612.hp2 NA18940.hp1 NA18959.hp2 NA19005.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 others(19): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0030 a0001c0001t0047 a0001c0001t0059 a0001c0001t0065 a0001c0001t0072 a0001c0001t0078 a0001c0001t0162 a0001c0001t0167 a0001c0001t0168 a0001c0002t0012 a0001c0002t0021 a0001c0002t0055 a0001c0002t0115 a0001c0002t0135 a0001c0002t0142 a0001c0002t0143 a0001c0002t0146	a0001c0001t0006g0253 a0001c0001t0007g0352 a0001c0001t0007g0353 others(21): Show a0001c0001t0006g0253 a0001c0001t0007g0352 a0001c0001t0007g0353 a0001c0001t0010g0261 a0001c0001t0012g0091 a0001c0001t0017g0356 a0001c0001t0030g0310 a0001c0001t0047g0228 a0001c0001t0047g0284 a0001c0001t0059g0337 a0001c0001t0065g0028 a0001c0001t0072g0341 a0001c0001t0078g0347 a0001c0001t0162g0114 a0001c0001t0167g0314 a0001c0001t0168g0313 a0001c0002t0012g0143 a0001c0002t0021g0132 a0001c0002t0055g0146 a0001c0002t0115g0177 a0001c0002t0135g0119 a0001c0002t0142g0204 a0001c0002t0143g0172 a0001c0002t0146g0138	24	376	0.0638	30	c.60 others(41): Show c.6078_*6079insTATATATATATATATATATATATATATATA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03471.hp2 HG01891.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0345 a0001c0001t0028g0346 a0001c0001t0028g0345 a0001c0001t0028g0346	2	376	0.0053	30	c.60 others(41): Show c.6078_*6079insTATATATATATATATATATATATATATACA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG4_chr17_7182187_7222627	7184637	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02258.hp1 HG00639.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0322 a0001c0001t0041g0323 a0001c0001t0041g0322 a0001c0001t0041g0323	2	376	0.0053	30	c.60 others(41): Show c.6070_*6071insCATATATATATATATATATATATATATATA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2549		chr17	TogoVar
DLG5_chr10_77785791_77931755	77916904	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02155.hp1 HG02896.hp1 others(9): Show HG02015.hp2 HG02155.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03453.hp2 HG03579.hp1 NA18612.hp2 NA18997.hp1 NA19084.hp1 NA19085.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0010 a0001c0020 a0001c0021 others(3): Show a0001c0010 a0001c0020 a0001c0021 a0002c0004 a0002c0014 a0018c0052	a0001c0010t0001 a0001c0020t0008 a0001c0021t0002 others(3): Show a0001c0010t0001 a0001c0020t0008 a0001c0021t0002 a0002c0004t0004 a0002c0014t0004 a0018c0052t0001	a0001c0010t0001g0148 a0001c0010t0001g0162 a0001c0020t0008g0024 others(9): Show a0001c0010t0001g0148 a0001c0010t0001g0162 a0001c0020t0008g0024 a0001c0021t0002g0151 a0001c0021t0002g0160 a0002c0004t0004g0125 a0002c0004t0004g0126 a0002c0004t0004g0127 a0002c0004t0004g0128 a0002c0004t0004g0129 a0002c0014t0004g0145 a0018c0052t0001g0144	12	331	0.0363	30	c.304 others(47): Show c.304+9312_304+9313insATATATATATATATATATATATATATAT AT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3551158	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0036 a0001c0003t0028g0036	1	80	0.0125	30	c.205 others(51): Show c.2057+16331_2057+16332insATATATATATATATATATATATAT ATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3600851	T T	TATAGATA others(23): Show TATAGATATATAGATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	80	0.0125	30	c.159 others(51): Show c.1592-18604_1592-18603insCTATATATCTATATATATCTATAT ATCTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3639359	G G	GAGAAAAG others(23): Show GAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0022 a0001c0002t0007g0022	1	80	0.0125	30	c.159 others(51): Show c.1592-57141_1592-57112dupTTTCTTTTCTTTTCTTTTCTTTTC TTTTCT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3720888	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0032 a0001c0004t0001 a0001c0004t0032	a0001c0004t0001g0011 a0001c0004t0032g0065 a0001c0004t0001g0011 a0001c0004t0032g0065	2	80	0.0250	30	c.159 others(49): Show c.1591+8246_1591+8247insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3728300	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0007 a0001c0006t0005g0007	1	80	0.0125	30	c.159 others(47): Show c.1591+834_1591+835insTATATATATATATATATATATATATATA TA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3772346	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0060	1	80	0.0125	30	c.117 others(51): Show c.1173-29835_1173-29834insAAGAAAGAGAGAAAGAAAGAAAGA AAGAAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	960237	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	30	c.73+ others(47): Show c.73+52286_73+52287insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015706	C C	CGGTGCCT others(23): Show CGGTGCCTCCACTGTGTGTGTGACCAGGACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	30	c.73+ others(49): Show c.73+107741_73+107742insGTGCCTCCACTGTGTGTGTGACCAGG ACAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1227153	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	30	c.74- others(47): Show c.74-31677_74-31676insTATATATATATATATATATATATATATA TA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1255714	G G	GTGTGTGT others(23): Show GTGTGTGTGCCCTCTCATCCTGTGTGGGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0024 a0002c0007t0008 a0001c0003t0024 a0002c0007t0008	a0001c0003t0024g0003 a0002c0007t0008g0040 a0001c0003t0024g0003 a0002c0007t0008g0040	2	40	0.0500	30	c.74- others(45): Show c.74-3129_74-3128insCCCTCTCATCCTGTGTGGGTGCTGTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1267634	T T	TAAAATAA others(23): Show TAAAATAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	30	c.106 others(47): Show c.106+8752_106+8753insAAATAAATAAAATAAAATAAAATAAAAT AA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1267634	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	30	c.106 others(47): Show c.106+8752_106+8753insAATAAAATAAAATAAAATAAAATAAAAT AA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1350184	C C	CGTGCGGG others(23): Show CGTGCGGGTCCTGACAGTGCGTGGAAAGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	30	c.106 others(49): Show c.106+91302_106+91303insTGCGGGTCCTGACAGTGCGTGGAAAG GCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1350383	C C	CGTGGAAA others(23): Show CGTGGAAAGGCCGTGCGGGTCCTGACTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	30	c.106 others(49): Show c.106+91512_106+91513insTGCGGGTCCTGACTGTGTGTGGAAAG GCCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1350529	A A	AGTGTGTG others(23): Show AGTGTGTGGAAAGGCCGTGCGGGTCCTGAGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	30	c.106 others(49): Show c.106+91649_106+91650insTGTGGAAAGGCCGTGCGGGTCCTGAG TGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1350803	C C	CGTGGAAA others(23): Show CGTGGAAAGGCCGTGCGGGTCCTGACAGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 NA18906.hp1 HG02818.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0008 a0001c0002 a0002c0001 a0004c0008	a0001c0002t0027 a0002c0001t0005 a0004c0008t0016 a0001c0002t0027 a0002c0001t0005 a0004c0008t0016	a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029	3	40	0.0750	30	c.106 others(49): Show c.106+91931_106+91932insGTGCGGGTCCTGACAGTGTGTGGAAA GGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351444	T T	TGGGTCCT others(23): Show TGGGTCCTGACTGTGTGTGGAAAGGACGTGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 NA18906.hp1 HG02818.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0008 a0001c0002 a0002c0001 a0004c0008	a0001c0002t0027 a0002c0001t0005 a0004c0008t0016 a0001c0002t0027 a0002c0001t0005 a0004c0008t0016	a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029	3	40	0.0750	30	c.106 others(49): Show c.106+92585_106+92586insACGTGCGGGTCCTGACTGTGTGTGGA AAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351640	C C	CGTGGAAA others(23): Show CGTGGAAAGGCCGTGCAGGTCCTGACTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	30	c.106 others(49): Show c.106+92772_106+92773insAGGTCCTGACTGTGTGTGGAAAGGCC GTGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351640	C C	CGTGGAAA others(23): Show CGTGGAAAGGCCGTGCGGGTCCTGACTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 NA18906.hp1 HG02818.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0008 a0001c0002 a0002c0001 a0004c0008	a0001c0002t0027 a0002c0001t0005 a0004c0008t0016 a0001c0002t0027 a0002c0001t0005 a0004c0008t0016	a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029	3	40	0.0750	30	c.106 others(49): Show c.106+92764_106+92793dupAGGCCGTGCGGGTCCTGACTGTGTGT GGAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351725	G G	GTGTGTGT others(23): Show GTGTGTGTGGAAAGGCCGTGCGGGTCCTGAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02698.hp1 HG01071.hp2 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0011 a0002c0001t0003 a0002c0001t0011	a0002c0001t0003g0017 a0002c0001t0011g0001 a0002c0001t0003g0017 a0002c0001t0011g0001	2	40	0.0500	30	c.106 others(49): Show c.106+92844_106+92873dupGTGTGTGGAAAGGCCGTGCGGGTCCT GACT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1352126	G G	GCTGTGCA others(23): Show GCTGTGCAGGTCCTGAGTGTGTGTGGAAACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp2 HG02074.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0002c0001t0020 a0001c0002t0002 a0001c0002t0009 a0002c0001t0020	a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024 a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024	3	40	0.0750	30	c.106 others(49): Show c.106+93244_106+93245insTGTGCAGGTCCTGAGTGTGTGTGGAA ACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683834	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03486.hp2 HG03492.hp2 HG02698.hp2 HG03486.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0004 a0001c0002 a0001c0009 a0002c0004	a0001c0002t0002 a0001c0009t0012 a0002c0004t0018 a0001c0002t0002 a0001c0009t0012 a0002c0004t0018	a0001c0002t0002g0021 a0001c0009t0012g0006 a0002c0004t0018g0010 a0001c0002t0002g0021 a0001c0009t0012g0006 a0002c0004t0018g0010	3	40	0.0750	30	c.270 others(49): Show c.2704+5228_2704+5229insATATATATATATATATATATATATAT ATAT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp1 HG02071.hp2 others(8): Show HG00423.hp2 HG01361.hp1 HG02071.hp2 HG02523.hp2 HG03471.hp1 HG03704.hp2 HG03710.hp2 HG04199.hp1 NA18992.hp1 NA19060.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0044 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0002g0129	11	266	0.0414	30	c.-51 others(45): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP5_chr14_55143135_55196585	55190289	T T	TACACACA others(23): Show TACACACACACACACACACACACACAAACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG01243.hp1 HG02572.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0292 a0002c0008t0001g0293 a0002c0008t0001g0292 a0002c0008t0001g0293	2	362	0.0055	30	c.-1- others(45): Show c.-1-1110_-1-1109insGTGTTTGTGTGTGTGTGTGTGTGTGTGTGT	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	1/18			chr14	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG02965.hp1 others(1): Show HG00280.hp2 HG00642.hp2 HG02965.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0241	4	324	0.0124	30	c.327 others(47): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31162356	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0004 a0032c0036t0004	a0032c0036t0004g0011 a0032c0036t0004g0011	1	126	0.0079	30	c.105 others(51): Show c.10553+7086_10553+7087insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	74/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0030 a0013c0015t0001g0030	1	126	0.0079	30	c.922 others(51): Show c.9224+30405_9224+30434dupACACACACACACACACACACACAC ACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425695	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03195.hp2 HG02293.hp1 HG03195.hp2	a0002 a0005 a0002 a0005	a0002c0009 a0005c0023 a0002c0009 a0005c0023	a0002c0009t0010 a0005c0023t0020 a0002c0009t0010 a0005c0023t0020	a0002c0009t0010g0023 a0005c0023t0020g0110 a0002c0009t0010g0023 a0005c0023t0020g0110	2	126	0.0159	30	c.908 others(51): Show c.9084+18785_9084+18786insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425708	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG02451.hp1 others(8): Show HG00738.hp1 HG01256.hp1 HG02451.hp1 HG03486.hp1 NA18965.hp1 NA18970.hp1 NA18989.hp1 NA18994.hp1 NA19005.hp1 NA19062.hp1 NA19070.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0008 a0016 a0018 a0036	a0001c0001 a0001c0002 a0003c0003 others(8): Show a0001c0001 a0001c0002 a0003c0003 a0004c0004 a0004c0011 a0005c0053 a0006c0006 a0008c0010 a0016c0028 a0018c0061 a0036c0021	a0001c0001t0002 a0001c0002t0001 a0003c0003t0002 others(8): Show a0001c0001t0002 a0001c0002t0001 a0003c0003t0002 a0004c0004t0002 a0004c0011t0001 a0005c0053t0004 a0006c0006t0001 a0008c0010t0001 a0016c0028t0005 a0018c0061t0001 a0036c0021t0017	a0001c0001t0002g0032 a0001c0002t0001g0088 a0003c0003t0002g0043 others(8): Show a0001c0001t0002g0032 a0001c0002t0001g0088 a0003c0003t0002g0043 a0004c0004t0002g0086 a0004c0011t0001g0034 a0005c0053t0004g0103 a0006c0006t0001g0047 a0008c0010t0001g0042 a0016c0028t0005g0028 a0018c0061t0001g0003 a0036c0021t0017g0009	11	126	0.0873	30	c.908 others(51): Show c.9084+18772_9084+18773insCGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31511235	T T	TATATAAT others(23): Show TATATAATATAATATAATATAATATAATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	126	0.0079	30	c.821 others(49): Show c.8218-3783_8218-3782insTATATTATATTATATTATATTATATT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0045 a0005c0045	a0005c0045t0018 a0005c0045t0018	a0005c0045t0018g0118 a0005c0045t0018g0118	1	126	0.0079	30	c.821 others(51): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA GAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	30	c.821 others(51): Show c.8218-14911_8218-14910insTATATAGAGAGAGAGAGAGAGAGA GAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0001 a0005c0057t0001	a0005c0057t0001g0109 a0005c0057t0001g0109	1	126	0.0079	30	c.821 others(51): Show c.8218-52188_8218-52187insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31843843	G G	GATTGTAT others(23): Show GATTGTATTGTATTGTATTGTATTGTATTAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02040.hp1 HG02129.hp1 others(20): Show HG01069.hp1 HG02040.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02895.hp1 HG03195.hp2 HG03490.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18962.hp1 NA18971.hp1 NA18994.hp1 NA19000.hp1	a0001 a0002 a0005 others(11): Show a0001 a0002 a0005 a0007 a0009 a0011 a0012 a0013 a0014 a0021 a0023 a0026 a0027 a0029	a0001c0001 a0001c0002 a0002c0005 others(16): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0020 a0002c0024 a0002c0059 a0005c0007 a0007c0018 a0009c0013 a0011c0049 a0012c0048 a0013c0015 a0014c0017 a0021c0035 a0023c0041 a0026c0042 a0027c0058 a0029c0044	a0001c0001t0001 a0001c0002t0001 a0002c0005t0007 others(16): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0007 a0002c0009t0010 a0002c0020t0030 a0002c0024t0011 a0002c0059t0012 a0005c0007t0007 a0007c0018t0001 a0009c0013t0022 a0011c0049t0001 a0012c0048t0001 a0013c0015t0001 a0014c0017t0001 a0021c0035t0001 a0023c0041t0001 a0026c0042t0024 a0027c0058t0019 a0029c0044t0014	a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0080 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0002t0001g0058 a0001c0002t0001g0088 a0002c0005t0007g0092 a0002c0009t0010g0023 a0002c0020t0030g0125 a0002c0024t0011g0016 a0002c0059t0012g0055 a0005c0007t0007g0063 a0007c0018t0001g0068 a0009c0013t0022g0066 a0011c0049t0001g0073 a0012c0048t0001g0057 a0013c0015t0001g0030 a0014c0017t0001g0107 a0021c0035t0001g0106 a0023c0041t0001g0046 a0026c0042t0024g0070 a0027c0058t0019g0116 a0029c0044t0014g0094	23	126	0.1825	30	c.709 others(49): Show c.7099-7025_7099-7024insATAATACAATACAATACAATACAATA CAAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar

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Search Results (Total: 10000 hits)