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
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0167 a0001c0003t0167	a0001c0003t0167g0012 a0001c0003t0167g0012	1	396	0.0025	29	c.36 others(40): Show c.3697_*3698insAAAAAAAAAAAAAAATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0170 a0001c0003t0170	a0001c0003t0170g0003 a0001c0003t0170g0003	1	396	0.0025	29	c.36 others(40): Show c.3697_*3698insAAAAAAAAAAAAATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	336	0.0030	29	c.51 others(40): Show c.5150_*5151insAAAAAAAAAAAAAATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0265	1	336	0.0030	29	c.51 others(40): Show c.5150_*5151insAAAAAAAAAATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03704.hp1 HG03139.hp1 HG03704.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0005 a0002c0002t0002 a0005c0005t0005	a0002c0002t0002g0302 a0005c0005t0005g0212 a0002c0002t0002g0302 a0005c0005t0005g0212	2	336	0.0060	29	c.51 others(40): Show c.5150_*5151insAAAAAAAATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	336	0.0030	29	c.51 others(40): Show c.5150_*5151insAAAAAATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	336	0.0030	29	c.51 others(40): Show c.5150_*5151insAATATATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0116 a0005c0008t0001g0116	1	212	0.0047	29	c.134 others(48): Show c.1349-4700_1349-4699insATATATATATATATATATATATTTTT TTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188843	A A	ATATATAT others(22): Show ATATATATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0145 a0007c0009t0006g0145	1	212	0.0047	29	c.134 others(50): Show c.1349-73187_1349-73186insATATATATATATATATACATATAT ATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01928.hp2 others(3): Show HG00735.hp2 HG01109.hp2 HG01928.hp2 HG02300.hp1 HG03834.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007 a0006c0017 a0009c0018	a0001c0001t0001 a0002c0002t0002 a0003c0003t0004 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0004 a0006c0007t0045 a0006c0017t0011 a0009c0018t0019	a0001c0001t0001g0124 a0002c0002t0002g0058 a0003c0003t0004g0140 others(3): Show a0001c0001t0001g0124 a0002c0002t0002g0058 a0003c0003t0004g0140 a0006c0007t0045g0036 a0006c0017t0011g0031 a0009c0018t0019g0001	6	212	0.0283	29	c.134 others(48): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLEC1_chr3_38034208_38129025	38084548	A A	AGTAGTAG others(22): Show AGTAGTAGTGGTAGTAGTAGTAGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	298	0.0034	29	c.126 others(46): Show c.1261+305_1261+306insAGTAGTGGTAGTAGTAGTAGTGGGGGGG T	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG2_chr11_83450173_85632344	84402881	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	14	0.0714	29	c.519 others(50): Show c.519+131688_519+131689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84506079	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	14	0.0714	29	c.519 others(48): Show c.519+28490_519+28491insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLG5_chr10_77785791_77931755	77876703	A A	AAGGGAGG others(22): Show AAGGGAGGGAGGGAGGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	331	0.0030	29	c.305 others(46): Show c.305-7507_305-7506insCCCTCCCTCCCTCCCCTCCCTCCCTCCC T	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLG5_chr10_77785791_77931755	77888988	G G	GAAGCCCA others(22): Show GAAGCCCACAGGTAACCTCCCAGGCCTCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0194 a0001c0024t0001g0194	1	331	0.0030	29	c.305 others(48): Show c.305-19820_305-19792dupGTGAGGCCTGGGAGGTTACCTGTGGG CTT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3720888	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0058 a0001c0004t0014g0058	1	80	0.0125	29	c.159 others(48): Show c.1591+8246_1591+8247insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3741106	C C	CCATCACC others(22): Show CCATCACCACCACCATCACCACCACCACCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 NA20300.hp2 HG02280.hp2 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0033 a0001c0004t0001 a0001c0004t0014 a0001c0003t0033 a0001c0004t0001 a0001c0004t0014	a0001c0003t0033g0077 a0001c0004t0001g0012 a0001c0004t0014g0058 a0001c0003t0033g0077 a0001c0004t0001g0012 a0001c0004t0014g0058	3	80	0.0375	29	c.135 others(48): Show c.1350+1200_1350+1228dupTGGTGGTGGTGGTGATGGTGGTGGTG ATG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	807398	C C	CCTCTTTT others(22): Show CCTCTTTTTCTTCTCATTCATACGTTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG01891.hp1 others(7): Show HG00639.hp1 HG01496.hp2 HG01891.hp1 HG02258.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0024 a0001c0011t0015 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0019 a0003c0005t0004	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0003t0001g0027 others(7): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0003t0001g0027 a0001c0003t0024g0003 a0001c0011t0015g0002 a0002c0001t0002g0032 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0019g0030 a0003c0005t0004g0037	10	40	0.2500	29	c.18+ others(46): Show c.18+69577_18+69605dupTTTTTCTTCTCATTCATACGTTCTCTCT C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	29	c.19- others(46): Show c.19-26246_19-26245insTATATATATATATATATATATATATATA T	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(22): Show ATGTATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	29	c.19- others(46): Show c.19-26246_19-26245insTGTATATATATATATATATATATACACA C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	902947	G G	GGGGCGGG others(22): Show GGGGCGGGGGGCGGTGGAACGTGTGCGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	29	c.19- others(44): Show c.19-4956_19-4955insGCGGTGGAACGTGTGCGGGTGGGCGGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1041524	G G	GCCCCTTG others(22): Show GCCCCTTGCCGTGGGTGAGTGTTCTCCGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG03516.hp1 others(2): Show HG02922.hp2 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0004c0008	a0001c0002t0001 a0001c0003t0013 a0001c0011t0015 others(2): Show a0001c0002t0001 a0001c0003t0013 a0001c0011t0015 a0002c0001t0019 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0011t0015g0002 others(2): Show a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0011t0015g0002 a0002c0001t0019g0030 a0004c0008t0016g0029	5	40	0.1250	29	c.73+ others(48): Show c.73+133616_73+133644dupACCCCTTGCCGTGGGTGAGTGTTCTC CGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1128259	G G	GGTCAGGA others(22): Show GGTCAGGACCTGCTCCCGGTGTTGTGTTCC	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	29	c.74- others(48): Show c.74-130590_74-130589insCAGGACCTGCTCCCGGTGTTGTGTTC CGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1256203	A A	ATGCCCGG others(22): Show ATGCCCGGGTGCTGTGTGTGTGCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	29	c.74- others(44): Show c.74-2626_74-2598dupCCCTCTCCTGCCCGGGTGCTGTGTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1256571	T T	TGCTGTGT others(22): Show TGCTGTGTGCGTGTGCTCTCCTGCCTGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG02895.hp2 others(2): Show HG01891.hp1 HG02895.hp1 HG02895.hp2 HG03516.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0007 a0001c0002 a0001c0003 a0002c0007	a0001c0002t0006 a0001c0003t0001 a0001c0003t0024 others(1): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0024 a0002c0007t0008	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 others(2): Show a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0024g0003 a0002c0007t0008g0040	5	40	0.1250	29	c.74- others(44): Show c.74-2274_74-2273insTGCGTGTGCTCTCCTGCCTGGGCGCTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1372234	G G	GTGCCAAC others(22): Show GTGCCAACGCTGGGACGCTGGTCACCGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	29	c.106 others(50): Show c.106+113417_106+113445dupGCTGGGACGCTGGTCACCGTGCTG CCAAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLX4_chr17_49964190_49979959	49973983	A A	AAGCCCAG others(22): Show AAGCCCAGGACCCAGGCAGTCCACCTGCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02809.hp2 others(5): Show HG02280.hp2 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0011 a0001c0001t0006g0002 a0001c0001t0006g0011	8	404	0.0198	29	c.41 others(36): Show c.41_*69dupAGCCCAGGACCCAGGCAGTCCACCTGCAC	DLX4	ENSG00000108813.12	transcript	ENST00000240306.5	protein_coding	3/3	70	INFO_REALIGN_3_PRIME	chr17	TogoVar
DMAC1_chr9_7791500_7804778	7795787	G G	GCTAGCTG others(22): Show GCTAGCTGATCACACTATTCCAGACTAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	474	0.0021	29	c.27 others(40): Show c.2785_*2786insGACTAGTCTGGAATAGTGTGATCAGCTAG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		712		chr9	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19012.hp1 NA18966.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0309 a0001c0001t0001g0242 a0001c0001t0001g0309	2	324	0.0062	29	c.327 others(46): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31138688	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	126	0.0079	29	c.109 others(50): Show c.10922-4495_10922-4494insCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(22): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0052 a0007c0019t0001g0052	1	126	0.0079	29	c.720 others(48): Show c.7201-2571_7201-2570insACACACACACACACACACACACACAC ACC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32050974	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0061 a0018c0061	a0018c0061t0001 a0018c0061t0001	a0018c0061t0001g0003 a0018c0061t0001g0003	1	126	0.0079	29	c.643 others(50): Show c.6439-82461_6439-82460insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0060 a0002c0016t0001g0060	1	126	0.0079	29	c.611 others(48): Show c.6118-4602_6118-4601insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 NA18612.hp1 others(3): Show HG01928.hp1 HG01952.hp1 NA18612.hp1 NA18962.hp1 NA19060.hp1 NA19085.hp1	a0001 a0034 a0001 a0034	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0034c0030	a0001c0001t0001 a0001c0001t0013 a0001c0002t0013 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0013 a0001c0022t0001 a0034c0030t0003	a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0013g0012 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0013g0012 a0001c0002t0013g0097 a0001c0022t0001g0036 a0034c0030t0003g0029	6	126	0.0476	29	c.592 others(48): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(22): Show GAGAAGGTAAGAAGAAAGAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0001 a0024c0038t0001	a0024c0038t0001g0053 a0024c0038t0001g0053	1	126	0.0079	29	c.199 others(48): Show c.1993-9499_1993-9498insTTTCTTTCTTTTCTTTCTTCTTACCT TCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879007	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	126	0.0079	29	c.94- others(46): Show c.94-29188_94-29187insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879014	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18965.hp1 NA19007.hp1 NA18960.hp1 NA18965.hp1 NA19007.hp1	a0002 a0007 a0036 a0002 a0007 a0036	a0002c0016 a0007c0018 a0036c0021 a0002c0016 a0007c0018 a0036c0021	a0002c0016t0001 a0007c0018t0001 a0036c0021t0017 a0002c0016t0001 a0007c0018t0001 a0036c0021t0017	a0002c0016t0001g0060 a0007c0018t0001g0099 a0036c0021t0017g0009 a0002c0016t0001g0060 a0007c0018t0001g0099 a0036c0021t0017g0009	3	126	0.0238	29	c.94- others(46): Show c.94-29195_94-29194insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79003968	A A	AAATAAAT others(22): Show AAATAAATAAATAAATAAATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0326 a0004c0007t0001g0326	1	372	0.0027	29	c.238 others(48): Show c.2385+1304_2385+1305insATATTTATTTATTTATTTATTTATTT ATT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	15/15			chr5	TogoVar
DMRT3_chr9_971655_996732	972204	G G	GGCAAAGT others(22): Show GGCAAAGTTCGCGCCCCCTGTTCCTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0166 a0001c0001t0027g0166	1	458	0.0022	29	c.-47 others(40): Show c.-4798_-4797insGCAAAGTTCGCGCCCCCTGTTCCTGGGGT	DMRT3	ENSG00000064218.5	transcript	ENST00000190165.3	protein_coding		4450		chr9	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0001 a0004c0035t0001	a0004c0035t0001g0207 a0004c0035t0001g0207	1	346	0.0029	29	c.299 others(46): Show c.2992+499_2992+500insCACACACACACACACACACACACACACA C	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(22): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0394 a0005c0014t0006g0394	1	456	0.0022	29	c.125 others(44): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0002 a0009c0012t0001 a0001c0001t0002 a0009c0012t0001	a0001c0001t0002g0160 a0009c0012t0001g0383 a0009c0012t0001g0384 a0001c0001t0002g0160 a0009c0012t0001g0383 a0009c0012t0001g0384	3	456	0.0066	29	c.125 others(44): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0086 a0003c0002t0001g0086	1	398	0.0025	29	c.-43 others(40): Show c.-4356_-4355insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAH10_chr12_123757301_123940714	123911894	A A	ACTGTCCC others(22): Show ACTGTCCCGGGGGGTCTGTCCCGGGGGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02615.hp2 others(1): Show HG01243.hp2 HG02451.hp1 HG02615.hp2 NA20300.hp2	a0033 a0041 a0058 others(1): Show a0033 a0041 a0058 a0066	a0033c0063 a0041c0060 a0058c0088 others(1): Show a0033c0063 a0041c0060 a0058c0088 a0066c0095	a0033c0063t0001 a0041c0060t0001 a0058c0088t0001 others(1): Show a0033c0063t0001 a0041c0060t0001 a0058c0088t0001 a0066c0095t0001	a0033c0063t0001g0170 a0041c0060t0001g0043 a0058c0088t0001g0015 others(1): Show a0033c0063t0001g0170 a0041c0060t0001g0043 a0058c0088t0001g0015 a0066c0095t0001g0169	4	170	0.0235	29	c.101 others(50): Show c.10135-1177_10135-1176insATCTGTCCCGGGGGGTCTGTCCCG GGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912065	G G	GGGGGGGT others(22): Show GGGGGGGTCTGTCCCGGGGGGTCTGTCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0048 a0048	a0048c0052 a0048c0052	a0048c0052t0001 a0048c0052t0001	a0048c0052t0001g0051 a0048c0052t0001g0051	1	170	0.0059	29	c.101 others(50): Show c.10135-1027_10135-1026insTCTGTCCCGGGGGGTCTGTCCCCG GGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912158	G G	GGGGGGTC others(22): Show GGGGGGTCTGTCCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02818.hp2 others(8): Show HG02258.hp2 HG02451.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1	a0001 a0011 a0023 others(4): Show a0001 a0011 a0023 a0027 a0040 a0061 a0068	a0001c0001 a0011c0028 a0023c0023 others(4): Show a0001c0001 a0011c0028 a0023c0023 a0027c0025 a0040c0044 a0061c0087 a0068c0082	a0001c0001t0001 a0011c0028t0001 a0023c0023t0001 others(4): Show a0001c0001t0001 a0011c0028t0001 a0023c0023t0001 a0027c0025t0001 a0040c0044t0001 a0061c0087t0001 a0068c0082t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0011c0028t0001g0067 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0011c0028t0001g0067 a0011c0028t0001g0084 a0023c0023t0001g0022 a0023c0023t0001g0024 a0027c0025t0001g0147 a0027c0025t0001g0150 a0040c0044t0001g0050 a0061c0087t0001g0162 a0068c0082t0001g0009	11	170	0.0647	29	c.101 others(48): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGTCTGTCCTGG GGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912204	G G	GGGGGGTC others(22): Show GGGGGGTCTGTCCTGGGGGGCGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02559.hp2 others(1): Show HG02145.hp1 HG02145.hp2 HG02559.hp2 NA21309.hp2	a0013 a0024 a0056 others(1): Show a0013 a0024 a0056 a0062	a0013c0014 a0024c0024 a0056c0072 others(1): Show a0013c0014 a0024c0024 a0056c0072 a0062c0074	a0013c0014t0001 a0024c0024t0001 a0056c0072t0001 others(1): Show a0013c0014t0001 a0024c0024t0001 a0056c0072t0001 a0062c0074t0001	a0013c0014t0001g0041 a0024c0024t0001g0008 a0056c0072t0001g0122 others(1): Show a0013c0014t0001g0041 a0024c0024t0001g0008 a0056c0072t0001g0122 a0062c0074t0001g0010	4	170	0.0235	29	c.101 others(48): Show c.10135-892_10135-891insGGGTCTGTCCTGGGGGGCGTCTGTCC TGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789763	C C	CTTCTTTC others(22): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0198 a0198	a0198c0207 a0198c0207	a0198c0207t0002 a0198c0207t0002	a0198c0207t0002g0166 a0198c0207t0002g0166	1	298	0.0034	29	c.100 others(48): Show c.10026+422_10026+423insTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0180 a0180	a0180c0269 a0180c0269	a0180c0269t0004 a0180c0269t0004	a0180c0269t0004g0151 a0180c0269t0004g0151	1	298	0.0034	29	c.100 others(48): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21906104	G G	GGCTGCTT others(22): Show GGCTGCTTCTCAAAGTGTGATCTCAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG03486.hp1 NA18942.hp2 others(10): Show HG02523.hp2 HG03486.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18955.hp2 NA18957.hp1 NA18964.hp1 NA18984.hp1 NA18992.hp2 NA18994.hp2 NA19010.hp2 NA19085.hp2	a0007 a0008 a0009 others(8): Show a0007 a0008 a0009 a0018 a0034 a0072 a0087 a0133 a0158 a0193 a0201	a0007c0112 a0007c0151 a0008c0214 others(9): Show a0007c0112 a0007c0151 a0008c0214 a0009c0270 a0018c0202 a0034c0020 a0072c0046 a0087c0106 a0133c0074 a0158c0180 a0193c0196 a0201c0208	a0007c0112t0006 a0007c0151t0006 a0008c0214t0006 others(9): Show a0007c0112t0006 a0007c0151t0006 a0008c0214t0006 a0009c0270t0006 a0018c0202t0006 a0034c0020t0006 a0072c0046t0025 a0087c0106t0006 a0133c0074t0006 a0158c0180t0006 a0193c0196t0023 a0201c0208t0006	a0007c0112t0006g0094 a0007c0151t0006g0025 a0008c0214t0006g0175 others(10): Show a0007c0112t0006g0094 a0007c0151t0006g0025 a0008c0214t0006g0175 a0009c0270t0006g0148 a0018c0202t0006g0163 a0034c0020t0006g0138 a0034c0020t0006g0145 a0072c0046t0025g0120 a0087c0106t0006g0096 a0133c0074t0006g0291 a0158c0180t0006g0122 a0193c0196t0023g0169 a0201c0208t0006g0177	13	298	0.0436	29	c.48 others(40): Show c.4850_*4851insGCTGCTTCTCAAAGTGTGATCTCAGGAGC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding		4266		chr7	TogoVar

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Search Results (Total: 6085 hits)