Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGCGCGCTGCGCGGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCCGCGCAGCGCGCACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG04204.hp2 HG02257.hp1 HG02257.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0001g0001 a0001c0001t0002g0006	3	392	0.0077	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp2 others(21): Show HG00099.hp1 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01361.hp2 HG02129.hp1 HG02148.hp1 HG02486.hp1 HG02683.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03704.hp1 NA18747.hp1 NA18947.hp2 NA18977.hp1 NA18985.hp1 NA18986.hp2 NA19086.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0002t0002g0002 a0002c0003t0002g0004 a0004c0005t0001g0036	24	392	0.0612	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14567391	T T	TAATTATA others(31): Show TAATTATATTATATTATATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0138 a0001c0004t0026g0138	1	148	0.0068	38	c.177 others(57): Show c.1770+6820_1770+6821insTATATATATAATATATATATATATAA TATAATATAATT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18977.hp2 NA18991.hp2 HG03490.hp2 NA18977.hp2 NA18991.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0003c0006 a0002c0001 a0003c0004 a0003c0006	a0002c0001t0002 a0003c0004t0004 a0003c0006t0010 a0002c0001t0002 a0003c0004t0004 a0003c0006t0010	a0002c0001t0002g0080 a0003c0004t0004g0146 a0003c0006t0010g0209 a0002c0001t0002g0080 a0003c0004t0004g0146 a0003c0006t0010g0209	3	234	0.0128	38	c.182 others(59): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186302478	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATACATATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0173 a0002c0001t0008g0173	1	234	0.0043	38	c.145 others(55): Show c.145-4250_145-4249insCACATATGTATATATATATATATATATA TATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42151515	G G	GTATATAT others(31): Show GTATATATATACACGTGTATATATATATATACACGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0049 a0001c0013t0049	a0001c0013t0049g0302 a0001c0013t0049g0302	1	316	0.0032	38	c.385 others(55): Show c.385-3770_385-3733dupATATACACGTGTATATATATATATACAC GTGTATATAT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0208 a0001c0001t0074g0208	1	316	0.0032	38	c.623 others(49): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774693	C C	CCTACATG others(31): Show CCTACATGTATTCTCCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02965.hp2 others(3): Show HG02630.hp1 HG02818.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	6	420	0.0143	38	c.364 others(53): Show c.364-660_364-659insAATACATGTAGGAGAATACTGTAGGAGAAT ACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774968	C C	CCTACATG others(31): Show CCTACATGTATTCTCCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0129 a0001c0001t0001g0133	2	420	0.0048	38	c.364 others(53): Show c.364-935_364-934insAATACATGTAGGAGAATACTGTAGGAGAAT ACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775518	C C	CCTACATG others(31): Show CCTACATGTATTCTCCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03139.hp2 HG02630.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132	3	420	0.0071	38	c.364 others(55): Show c.364-1485_364-1484insAATACATGTAGGAGAATACTGTAGGAGA ATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775793	C C	CCTACATG others(31): Show CCTACATGTATTCTCCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03139.hp2 HG02630.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132	3	420	0.0071	38	c.363 others(55): Show c.363+1266_363+1267insAATACATGTAGGAGAATACTGTAGGAGA ATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0013 a0001c0008t0003g0013	1	336	0.0030	38	c.118 others(55): Show c.118-3446_118-3445insATATATATATATATATATATATATATAT ATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03654.hp2 HG02965.hp2 HG03654.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0107 a0006c0010t0001g0040 a0001c0001t0001g0107 a0006c0010t0001g0040	2	336	0.0060	38	c.118 others(55): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	97185425	A A	ATATATAT others(31): Show ATATATATATGTGTATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01081.hp1 others(43): Show HG00621.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03492.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp1 NA18940.hp1 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18967.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0006 a0001c0001 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0007t0005 a0002c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 others(43): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0134 a0001c0001t0005g0040 a0001c0001t0008g0021 a0001c0001t0008g0041 a0001c0001t0009g0099 a0001c0001t0010g0028 a0001c0001t0010g0094 a0001c0001t0016g0125 a0001c0001t0019g0102 a0001c0007t0005g0131 a0002c0006t0001g0130	46	147	0.3129	38	c.271 others(59): Show c.2719+43654_2719+43655insATGTATATATATATGTATATATAT GTGTATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0045 a0002c0004t0002g0045	1	208	0.0048	38	c.331 others(59): Show c.3319+12136_3319+12137insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(31): Show CACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	208	0.0048	38	c.180 others(55): Show c.180+6668_180+6669insATATATATATATATATATATATATATAT ATATATATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0046	1	208	0.0048	38	c.180 others(55): Show c.180+6647_180+6648insAAAAAAAAAAAATATATATATATATATA TATATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG03540.hp2 HG02132.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0022 a0003c0003 a0001c0022 a0003c0003	a0001c0022t0001 a0003c0003t0001 a0001c0022t0001 a0003c0003t0001	a0001c0022t0001g0090 a0003c0003t0001g0232 a0001c0022t0001g0090 a0003c0003t0001g0232	2	320	0.0063	38	c.-34 others(49): Show c.-3455_-3454insTATATATATATATATATATATATATATATATATA TATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIP2C_chr10_269201_694668	346691	A A	AGACACAC others(31): Show AGACACACCGCACATAGTTCTCCCGGAAACGTCACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02922.hp2 NA18906.hp1 others(1): Show HG02602.hp1 HG02922.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0002t0003 a0001c0020t0008 a0001c0002t0001 a0001c0002t0003 a0001c0020t0008	a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 others(1): Show a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0020t0008g0074	4	88	0.0455	38	c.323 others(57): Show c.3232-1582_3232-1581insGTGTGTGACGTTTCCGGGAGAACTAT GTGCGGTGTGTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	346691	A A	AGACACAC others(31): Show AGACACACCGCACATAGTTCTCCCGGACACGTCACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	38	c.323 others(57): Show c.3232-1582_3232-1581insGTGTGTGACGTGTCCGGGAGAACTAT GTGCGGTGTGTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417743	G G	GGCTCGGA others(31): Show GGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	88	0.0114	38	c.739 others(55): Show c.739+1321_739+1322insTCTGACAGGAACAGGTGGACAGGGAGGC CTATCCGAGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417827	C C	CAGGCCTC others(31): Show CAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	38	c.739 others(55): Show c.739+1237_739+1238insATCCGAGCCCTGACAGGTGCAGGTGGAC AGGGAGGCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417903	T T	TAGGCCTC others(31): Show TAGGCCTCCCTGTCCACCTGTTCCTGTCAGAGCTCGGAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	38	c.739 others(55): Show c.739+1161_739+1162insGTCCGAGCTCTGACAGGAACAGGTGGAC AGGGAGGCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417941	T T	TAGGCCTC others(31): Show TAGGCCTCCCTGTCCACCTACACCTGTCAGAGCTCGGAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA20805.hp1 HG03834.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0041 a0001c0004t0003g0039 a0001c0004t0001g0041 a0001c0004t0003g0039	2	88	0.0227	38	c.739 others(55): Show c.739+1123_739+1124insGTCCGAGCTCTGACAGGTGTAGGTGGAC AGGGAGGCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608596	C C	CCCCCCCA others(31): Show CCCCCCCACACACACACATCCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	38	c.85+ others(55): Show c.85+80897_85+80898insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	619532	C C	CAGGGCCA others(31): Show CAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGACCAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	88	0.0114	38	c.85+ others(55): Show c.85+69961_85+69962insTTGGTCCTGGCCCTGGCCCTGGCCCTGG CCCTGGCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	619532	C C	CAGGGCCA others(31): Show CAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	88	0.0114	38	c.85+ others(55): Show c.85+69961_85+69962insTTGGCCCTGGCCCTGGCCCTGGCCCTGG CCCTGGCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(31): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	88	0.0114	38	c.85+ others(55): Show c.85+14704_85+14705insCTCTCTCTCTCTCTCTCTCTATATATAT ATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846815	A A	ATATATGT others(31): Show ATATATGTGTATATATATATATATATATATACACACACG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 HG02895.hp1 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0077 a0002c0005t0003g0078 a0002c0005t0003g0077 a0002c0005t0003g0078	2	200	0.0100	38	c.474 others(53): Show c.474+367_474+368insCGTGTGTGTATATATATATATATATATATA CACATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0284 a0008c0012t0001g0284	1	400	0.0025	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATA	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(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03927.hp1 NA18946.hp2 others(2): Show HG01123.hp1 HG03927.hp1 NA18946.hp2 NA18979.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 others(2): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0306	5	400	0.0125	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAATATATATATATA TATATATA	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(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00738.hp2 others(17): Show HG00280.hp2 HG00423.hp2 HG00738.hp2 HG01243.hp1 HG01433.hp1 HG02004.hp2 NA18941.hp2 NA18959.hp1 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18998.hp1 NA19001.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19054.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0272 a0001c0001t0001g0277 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0337 a0001c0001t0005g0003 a0001c0001t0013g0003 a0001c0001t0013g0280 a0001c0001t0013g0297 a0001c0001t0019g0296 a0001c0003t0001g0046 a0001c0003t0001g0071	20	400	0.0500	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAAAAAAAAAATATATATATATATA TATATATA	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(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04184.hp2 NA18994.hp1 HG01099.hp1 HG04184.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0298	3	400	0.0075	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAAAAAAAATATATATATATATATA TATATATA	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(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	400	0.0025	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAAAAAATATATATATATATATATA TATATATA	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(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0102 a0001c0019t0008g0102	1	400	0.0025	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAAAATATATATATATATATATATA TATATATA	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(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18992.hp1 HG03017.hp2 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0224 a0002c0002t0007g0228 a0002c0002t0002g0224 a0002c0002t0007g0228	2	400	0.0050	38	c.558 others(53): Show c.558+251_558+252insAAAAAAAATATATATATATATATATATATA TATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19063.hp2 HG02523.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0212 a0002c0002t0007g0236 a0002c0002t0007g0212 a0002c0002t0007g0236	2	400	0.0050	38	c.558 others(53): Show c.558+251_558+252insAAAATATATATATATATATATATATATATA TATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp1 NA18974.hp2 HG00423.hp1 HG02056.hp1 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0238 a0002c0002t0007g0217 a0002c0002t0007g0237 a0002c0002t0002g0238 a0002c0002t0007g0217 a0002c0002t0007g0237	3	400	0.0075	38	c.558 others(53): Show c.558+251_558+252insAATATATATATATATATATATATATATATA TATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231907060	T T	TCCTTCCT others(31): Show TCCTTCCTTCCCTCCCTCCCTTCCTTCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0020 a0003c0002t0020	a0003c0002t0020g0022 a0003c0002t0020g0022	1	40	0.0250	38	c.198 others(59): Show c.1982-51739_1982-51738insTCCTCCCTCCCTTCCTTCCCTCCC TCCCTTCCTTCCTT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03239.hp2 NA18947.hp1 HG02809.hp1 HG03239.hp2 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0037 a0001c0002 a0001c0005 a0001c0037	a0001c0002t0001 a0001c0005t0001 a0001c0037t0001 a0001c0002t0001 a0001c0005t0001 a0001c0037t0001	a0001c0002t0001g0285 a0001c0005t0001g0071 a0001c0037t0001g0166 a0001c0002t0001g0285 a0001c0005t0001g0071 a0001c0037t0001g0166	3	348	0.0086	38	c.510 others(57): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DKKL1_chr19_49358877_49380116	49371559	A A	ATGACTTA others(31): Show ATGACTTACCTTAGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0121 a0004c0004t0001g0121	1	396	0.0025	38	c.418 others(55): Show c.418-3140_418-3139insTTTTTTTTTTTTTTTTTTTTTGACTTAC CTTAGTTTTT	DKKL1	ENSG00000104901.7	transcript	ENST00000221498.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0196 a0004c0004t0003g0196	1	336	0.0030	38	c.51 others(49): Show c.5150_*5151insAAAAAAAAAAAAATATATATATATATATATATAT ATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02129.hp2 HG02056.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0278 a0002c0002t0002g0241 a0002c0002t0002g0278	2	336	0.0060	38	c.51 others(49): Show c.5150_*5151insAAAAAAAAAAATATATATATATATATATATATAT ATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0008 a0001c0011t0003g0008	1	212	0.0047	38	c.134 others(57): Show c.1349-4700_1349-4699insATATATATATATATATATATTTTTTT TTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13219084	A A	ATATATGA others(31): Show ATATATGAATATAATTATATAATTATATACGAATATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03654.hp1 HG04184.hp1 HG00642.hp2 HG03654.hp1 HG04184.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0012 a0002c0002 a0005c0012	a0002c0002t0001 a0002c0002t0037 a0005c0012t0003 a0002c0002t0001 a0002c0002t0037 a0005c0012t0003	a0002c0002t0001g0074 a0002c0002t0037g0084 a0005c0012t0003g0019 a0002c0002t0001g0074 a0002c0002t0037g0084 a0005c0012t0003g0019	3	212	0.0142	38	c.134 others(59): Show c.1348+86184_1348+86185insATTATATTCGTATATAATTATATA ATTATATTCATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0142 a0003c0003t0014g0142	1	212	0.0047	38	c.134 others(57): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453427	T T	TATATATA others(31): Show TATATATATATATATGTGTATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02683.hp2 HG02922.hp2 others(1): Show HG01361.hp1 HG02683.hp2 HG02922.hp2 NA18906.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0019 a0001c0035 a0002c0014 others(1): Show a0001c0019 a0001c0035 a0002c0014 a0016c0037	a0001c0019t0003 a0001c0035t0003 a0002c0014t0008 others(1): Show a0001c0019t0003 a0001c0035t0003 a0002c0014t0008 a0016c0037t0001	a0001c0019t0003g0043 a0001c0035t0003g0077 a0002c0014t0008g0078 others(1): Show a0001c0019t0003g0043 a0001c0035t0003g0077 a0002c0014t0008g0078 a0016c0037t0001g0076	4	212	0.0189	38	c.102 others(59): Show c.1023+45621_1023+45622insGTATATATATACATATATATACAC ATATATATATATAT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197127451	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	332	0.0030	38	c.116 others(57): Show c.1165+3075_1165+3076insATATATATATATATATATATATATAT ATATATATATAT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	84099802	G G	GATATATA others(31): Show GATATATATATCTAAAGAGATATATATATCTAAAGAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	14	0.0714	38	c.625 others(53): Show c.625-756_625-755insATCTCTTTAGATATATATATCTCTTTAGAT ATATATAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar

Search by Variant

Search

Search Results (Total: 5880 hits)