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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIRAS1_chr19_2709567_2726372	2713254	A A	ACCTCACT others(37): Show ACCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	44	c.39 others(55): Show c.3955_*3956insAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1312		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713273	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA20300.hp2 HG02622.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0005 a0001c0001t0019g0025 a0001c0001t0004g0005 a0001c0001t0019g0025	2	412	0.0049	44	c.39 others(55): Show c.3936_*3937insATGGGTGGAGGAAGTGAGAGATGGCATTAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1293		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713275	A A	ACCTCCTC others(37): Show ACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	412	0.0024	44	c.39 others(55): Show c.3934_*3935insCGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGG GTGGAGGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1291		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713298	T T	TCCTCACT others(37): Show TCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	44	c.39 others(55): Show c.3911_*3912insGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1268		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713315	C C	CATCACCT others(37): Show CATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	412	0.0024	44	c.38 others(55): Show c.3894_*3895insCGGTGTAGACAGTGACGGATGGGATGAAGGGTGG AGGAGGTGAT	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1251		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713317	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	412	0.0073	44	c.38 others(55): Show c.3892_*3893insATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1249		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713405	T T	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATACCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	44	c.38 others(55): Show c.3804_*3805insGTGGGTGTAGGAAGTGAGGTATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1161		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713405	T T	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02976.hp2 others(4): Show HG01109.hp2 HG02818.hp2 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03831.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0039	a0001c0001t0006g0007 a0001c0001t0013g0023 a0001c0001t0026g0100 others(2): Show a0001c0001t0006g0007 a0001c0001t0013g0023 a0001c0001t0026g0100 a0001c0001t0030g0081 a0001c0001t0039g0048	7	412	0.0170	44	c.38 others(55): Show c.3804_*3805insGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1161		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713519	C C	CCTCACTT others(37): Show CCTCACTTCCTACACCCACCACCTCCTCCACCCTTAATGCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	1	412	0.0024	44	c.36 others(55): Show c.3690_*3691insAGATGGCATTAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1047		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713530	A A	ACACCCAC others(37): Show ACACCCACCACCTCCTCCACCCTCCATCCCATCCCTCACTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02280.hp1 others(2): Show HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02630.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0051 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0051 a0001c0001t0010g0041	5	412	0.0121	44	c.36 others(55): Show c.3679_*3680insGAGGAAGTGAGGGATGGGATGGAGGGTGGAGGAG GTGGTGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1036		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(37): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp1 others(20): Show HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01993.hp1 HG02451.hp2 HG02698.hp1 HG02809.hp2 HG03017.hp2 HG03225.hp2 HG03654.hp1 HG04184.hp2 HG04199.hp1 NA19007.hp2 NA19011.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0056 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0056 a0001c0001t0003g0015 a0001c0001t0006g0007 a0001c0001t0011g0013	23	412	0.0558	44	c.36 others(55): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713586	T T	CCCTCCAC others(37): Show CCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	412	0.0024	44	c.36 others(55): Show c.3624_*3625insGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAA GGGTGGAGGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		981		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713713	T T	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	412	0.0024	44	c.34 others(55): Show c.3496_*3497insGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		853		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713757	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	44	c.34 others(55): Show c.3452_*3453insACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		809		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713801	T T	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	44	c.34 others(55): Show c.3408_*3409insGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		765		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713933	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01515.hp1 others(4): Show HG00099.hp1 HG01167.hp2 HG01515.hp1 HG01517.hp2 HG03688.hp1 HG03834.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0001c0001t0002 a0001c0001t0003 a0001c0001t0042	a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0003g0003 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0003g0003 a0001c0001t0042g0098	7	412	0.0170	44	c.32 others(55): Show c.3276_*3277insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		633		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713977	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	44	c.32 others(55): Show c.3232_*3233insATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		589		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714021	T T	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	412	0.0024	44	c.31 others(55): Show c.3188_*3189insGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		545		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714046	C C	CCCTCACT others(37): Show CCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCACACCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02976.hp2 others(1): Show HG01109.hp2 HG02818.hp2 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030	a0001c0001t0013g0023 a0001c0001t0026g0100 a0001c0001t0030g0081 a0001c0001t0013g0023 a0001c0001t0026g0100 a0001c0001t0030g0081	4	412	0.0097	44	c.31 others(55): Show c.3163_*3164insTATGGTGTGAAGGGTGGAGGAAGTGGTGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		520		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714128	C C	CCCCATCC others(37): Show CCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	412	0.0024	44	c.30 others(55): Show c.3081_*3082insATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGT GAGGGATGGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		438		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714190	A A	ACACCCAC others(37): Show ACACCCACCACCTTCTCAACCCTTCACCCCATCCCTCACTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	412	0.0024	44	c.30 others(55): Show c.3019_*3020insGAGGAAGTGAGGGATGGGGTGAAGGGTTGAGAAG GTGGTGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		376		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714329	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03540.hp1 HG02145.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0042 a0001c0001t0010g0041 a0001c0001t0004g0042 a0001c0001t0010g0041	2	412	0.0049	44	c.28 others(55): Show c.2880_*2881insACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		237		chr19	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	400	0.0025	44	c.558 others(59): Show c.558+251_558+252insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18973.hp2 HG00642.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0368 a0001c0001t0003g0073 a0001c0001t0003g0368	2	400	0.0050	44	c.558 others(59): Show c.558+251_558+252insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18983.hp2 NA18954.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0008 a0001c0001t0003 a0001c0005t0008	a0001c0001t0003g0080 a0001c0005t0008g0098 a0001c0001t0003g0080 a0001c0005t0008g0098	2	400	0.0050	44	c.558 others(59): Show c.558+251_558+252insAAAAAAAAAAAATATATATATATATATATA TATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222814959	C C	CAGCGGGC others(37): Show CAGCGGGCCGGGAGCGGGCCGGGAGCGGGCCGGGAGCGGGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0329 a0002c0004t0001g0329	1	348	0.0029	44	c.-27 others(53): Show c.-278_-277insAGCGGGCCGGGAGCGGGCCGGGAGCGGGCCGGGAGC GGGCCGGG	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding		79		chr1	TogoVar
DISP1_chr1_222810039_223010995	222936648	T T	TATAATAT others(37): Show TATAATATATAAAATATATGATATATATCATATATATGATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0001 a0019c0039t0001	a0019c0039t0001g0092 a0019c0039t0001g0092	1	348	0.0029	44	c.-17 others(61): Show c.-17-6156_-17-6155insATATATAAAATATATGATATATATCATA TATATGATATATAATA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522640	G G	GCCCAGCC others(37): Show GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0147 a0002c0002t0002g0147	1	358	0.0028	44	c.236 others(63): Show c.2363-1282_2363-1281insGACCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522651	G G	GCCCAGCC others(37): Show GCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0007 a0015c0053t0007	a0015c0053t0007g0300 a0015c0053t0007g0300	1	358	0.0028	44	c.236 others(63): Show c.2363-1282_2363-1281insGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522926	A A	ACCCAGCC others(37): Show ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(55): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01496.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02486.hp1 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18986.hp2 NA18998.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1	a0002 a0008 a0014 others(2): Show a0002 a0008 a0014 a0018 a0019	a0002c0002 a0002c0011 a0002c0018 others(7): Show a0002c0002 a0002c0011 a0002c0018 a0002c0039 a0002c0040 a0002c0051 a0008c0014 a0014c0035 a0018c0047 a0019c0052	a0002c0002t0001 a0002c0002t0002 a0002c0002t0022 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0022 a0002c0002t0026 a0002c0011t0001 a0002c0011t0003 a0002c0011t0011 a0002c0018t0002 a0002c0039t0002 a0002c0040t0002 a0002c0051t0004 a0008c0014t0002 a0014c0035t0001 a0018c0047t0002 a0019c0052t0002	a0002c0002t0001g0121 a0002c0002t0002g0050 a0002c0002t0002g0052 others(55): Show a0002c0002t0001g0121 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0062 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0149 a0002c0002t0002g0156 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0165 a0002c0002t0002g0170 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0204 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0339 a0002c0002t0022g0168 a0002c0002t0026g0030 a0002c0011t0001g0138 a0002c0011t0001g0144 a0002c0011t0001g0164 a0002c0011t0001g0201 a0002c0011t0003g0159 a0002c0011t0011g0137 a0002c0018t0002g0166 a0002c0039t0002g0141 a0002c0040t0002g0309 a0002c0051t0004g0172 a0008c0014t0002g0173 a0008c0014t0002g0187 a0008c0014t0002g0188 a0014c0035t0001g0230 a0018c0047t0002g0202 a0019c0052t0002g0135	58	358	0.1620	44	c.236 others(61): Show c.2363-990_2363-989insGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLC1_chr8_13078361_13519851	13143813	T T	TGAGAGAG others(37): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0051 a0001c0004t0016g0051	1	212	0.0047	44	c.134 others(65): Show c.1349-28157_1349-28156insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	376	0.0027	44	c.60 others(55): Show c.6078_*6079insTATATATATATATATATATATATATATATATATA TATATATATA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0044 a0001c0001t0069g0044	1	376	0.0027	44	c.60 others(55): Show c.6078_*6079insTATATATATATATATATATATATATATATATATA TATATACACA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLGAP1_chr18_3491032_4460307	4120722	C C	CCTTCCTT others(37): Show CCTTCCTTCCCTCTCTCCCTCCCTCCGTCCCTTCCTTTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG03516.hp2 others(1): Show HG02258.hp1 HG03098.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0002t0034 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0034 a0001c0003t0028	a0001c0001t0004g0016 a0001c0001t0005g0042 a0001c0002t0034g0069 others(1): Show a0001c0001t0004g0016 a0001c0001t0005g0042 a0001c0002t0034g0069 a0001c0003t0028g0036	4	80	0.0500	44	c.-15 others(65): Show c.-159+30457_-159+30458insAAGGAGGAAAGGAAGGGACGGAGG GAGGGAGAGAGGGAAGGAAG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265103	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20300.hp2 HG02622.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0033 a0001c0003t0015 a0001c0003t0033	a0001c0003t0015g0078 a0001c0003t0033g0077 a0001c0003t0015g0078 a0001c0003t0033g0077	2	80	0.0250	44	c.-26 others(67): Show c.-266-113817_-266-113816insGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265663	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0069 a0001c0002t0034g0069	1	80	0.0125	44	c.-26 others(67): Show c.-266-114377_-266-114376insAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGGAGGGAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1164250	C C	CCCCCAGG others(37): Show CCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0017 a0001c0002t0001 a0001c0003t0017	a0001c0002t0001g0015 a0001c0003t0017g0004 a0001c0002t0001g0015 a0001c0003t0017g0004	2	40	0.0500	44	c.74- others(61): Show c.74-94597_74-94596insAGGGCCCGTCGTTTTGGTTTGTGGGGAT TTTTCTGTGAGTCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1384950	G G	GCACAGTT others(37): Show GCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	44	c.107 others(65): Show c.107-116414_107-116413insCAGTTACCCCGGCCTGTGCCCGGC CCCTGAGAACTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1430011	T T	TACATATA others(37): Show TACATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	44	c.107 others(63): Show c.107-71354_107-71353insCATATATATATATATATATATATATA TATATATATATATATACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1692061	C C	CGGTACCG others(37): Show CGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAAACGCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	44	c.279 others(61): Show c.2796+474_2796+475insACGCTGGTACCGAGGCAGGGAGGCGGAT ACGGCCCTGGTTTAAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01993.hp1 HG02015.hp1 others(5): Show HG00558.hp1 HG01993.hp1 HG02015.hp1 HG02615.hp2 HG03130.hp2 HG03704.hp1 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0085 a0001c0001t0001g0107 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0085 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0001t0003g0161 a0001c0002t0001g0030 a0001c0003t0001g0221 a0001c0010t0001g0073	8	266	0.0301	44	c.-51 others(59): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	266	0.0038	44	c.-51 others(59): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATATATATATAAA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0005 a0028 a0005 a0028	a0005c0057 a0028c0046 a0005c0057 a0028c0046	a0005c0057t0001 a0028c0046t0029 a0005c0057t0001 a0028c0046t0029	a0005c0057t0001g0109 a0028c0046t0029g0126 a0005c0057t0001g0109 a0028c0046t0029g0126	2	126	0.0159	44	c.922 others(65): Show c.9224+30434_9224+30435insACACACACACACACACACACACAC ACACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31314742	C C	CAGAGAGA others(37): Show CAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	44	c.922 others(63): Show c.9224+8855_9224+8856insCTCTCTCTCTCTCTCTCTCTCTTTCT CTCTCTCTCTCTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTAT others(37): Show CTCTCTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0031 a0031	a0031c0047 a0031c0047	a0031c0047t0005 a0031c0047t0005	a0031c0047t0005g0081 a0031c0047t0005g0081	1	126	0.0079	44	c.821 others(65): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA TATATATATATATATAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(37): Show CTCTCTCTCTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0028 a0028	a0028c0046 a0028c0046	a0028c0046t0029 a0028c0046t0029	a0028c0046t0029g0126 a0028c0046t0029g0126	1	126	0.0079	44	c.821 others(65): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA TATATATATATAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	126	0.0079	44	c.821 others(65): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA GAGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32085622	A A	ATATATGT others(37): Show ATATATGTGTATATATATACGTATATATATATACACATATATACG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0065 a0002c0009t0001g0065	1	126	0.0079	44	c.643 others(67): Show c.6439-117109_6439-117108insCGTATATATGTGTATATATATA TACGTATATATATACACATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32298514	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0001 a0010c0031t0001	a0010c0031t0001g0096 a0010c0031t0001g0096	1	126	0.0079	44	c.611 others(65): Show c.6118-10814_6118-10813insATATATATATATATATATATATAT ATATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32335670	A A	AATATGTA others(37): Show AATATGTATATATAACATATAACATGTTATATACATAACATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 NA18944.hp1 others(2): Show HG01074.hp1 HG01255.hp1 NA18944.hp1 NA18983.hp1 NA19012.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0026	a0001c0002 a0002c0005 a0002c0012 others(2): Show a0001c0002 a0002c0005 a0002c0012 a0006c0006 a0026c0042	a0001c0002t0001 a0002c0005t0001 a0002c0012t0002 others(2): Show a0001c0002t0001 a0002c0005t0001 a0002c0012t0002 a0006c0006t0001 a0026c0042t0024	a0001c0002t0001g0074 a0002c0005t0001g0049 a0002c0012t0002g0122 others(2): Show a0001c0002t0001g0074 a0002c0005t0001g0049 a0002c0012t0002g0122 a0006c0006t0001g0001 a0026c0042t0024g0070	5	126	0.0397	44	c.592 others(63): Show c.5922+6429_5922+6430insGTATATGTTATGTATATAACATGTTA TATGTTATATATACATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar

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Search Results (Total: 4475 hits)