Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01192.hp2 others(4): Show HG01167.hp2 HG01169.hp1 HG01192.hp2 HG06807.hp2 NA18966.hp2 NA18994.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0193 a0001c0001t0001g0261	7	16	0.4375	32	c.-13 others(53): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG02300.hp2 others(2): Show HG00733.hp1 HG01074.hp1 HG02300.hp2 NA18970.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0038 a0001c0001t0002g0127 a0001c0001t0002g0243 others(2): Show a0001c0001t0002g0038 a0001c0001t0002g0127 a0001c0001t0002g0243 a0001c0001t0002g0265 a0001c0001t0013g0286	5	14	0.3571	32	c.-13 others(53): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269060	A A	AATATATA others(25): Show AATATATAATATATATTATATATATTATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0049	1	239	0.0042	32	c.36 others(43): Show c.3672_*3673insATTATATAATATATATAATATATATTATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2407		chrX	TogoVar
CYSTM1_chr5_140170188_140248789	140226586	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	106	0.0094	32	c.188 others(51): Show c.188-16693_188-16692insTATATATATATATATATATATATATA TATATA	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH1_chr17_78669048_78787273	78690393	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0371 a0001c0001t0003g0371	1	34	0.0294	32	c.891 others(49): Show c.891+1992_891+2023dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13			chr17	TogoVar
CYTH2_chr19_48464369_48487314	48471166	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	319	0.0031	32	c.234 others(47): Show c.234+511_234+512insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAAM1_chr14_59183667_59376403	59288832	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0026 a0001c0003t0017g0026	1	27	0.0370	32	c.184 others(49): Show c.184-2356_184-2355insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01496.hp1 HG02647.hp2 others(2): Show HG00609.hp1 HG01496.hp1 HG02647.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0003t0028 others(1): Show a0001c0001t0005 a0001c0003t0005 a0001c0003t0028 a0001c0003t0061	a0001c0001t0005g0176 a0001c0003t0005g0037 a0001c0003t0028g0013 others(2): Show a0001c0001t0005g0176 a0001c0003t0005g0037 a0001c0003t0028g0013 a0001c0003t0028g0014 a0001c0003t0061g0252	5	48	0.1042	32	c.184 others(49): Show c.184-1433_184-1432insTATATATATATATATATATATATATATA TATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289769	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp2 HG02970.hp2 HG01175.hp1 HG02683.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0033 a0001c0003t0005g0036 a0001c0003t0005g0038 a0001c0003t0001g0033 a0001c0003t0005g0036 a0001c0003t0005g0038	3	294	0.0102	32	c.184 others(49): Show c.184-1433_184-1432insTATATATATATATATACATATATATATA TATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57426859	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	128	0.0078	32	c.-30 others(43): Show c.-3067_-3066insATATATATATATATATATATATATATATATAT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding		2800		chr1	TogoVar
DACH1_chr13_71432966_71872204	71519883	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0099 a0005c0008t0001g0099	1	23	0.0435	32	c.157 others(53): Show c.1571-30736_1571-30735insTATATATATATATATATATATATA TATATATA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735094	C C	CATATATG others(25): Show CATATATGGGATACACGTATATGGGTTATACAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02622.hp1 others(7): Show HG02109.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0002c0002t0004 a0002c0007t0002	a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0003g0026 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0018 a0001c0001t0004g0047 a0001c0005t0002g0041 a0002c0002t0004g0077 a0002c0007t0002g0067 a0002c0007t0002g0092	10	99	0.1010	32	c.849 others(51): Show c.849-53216_849-53185dupATGTATAACCCATATACGTGTATCCC ATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735094	C C	CATATATG others(25): Show CATATATGGGATATACGTATATGGGTTATACAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	90	0.0111	32	c.849 others(51): Show c.849-53185_849-53184insATGTATAACCCATATACGTATATCCC ATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735127	A A	ATATATGG others(25): Show ATATATGGGATACACGTATATGGGTTATACATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	100	0.0100	32	c.849 others(51): Show c.849-53218_849-53217insCATGTATAACCCATATACGTGTATCC CATATA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	80	0.0125	32	c.488 others(53): Show c.488+105700_488+105701insTATATATATATATAGAGAGAGAGA GAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	80	0.0125	32	c.488 others(53): Show c.488+105700_488+105701insTATATATATATATATATATATATA GAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01069.hp1 others(4): Show HG00621.hp1 HG00642.hp1 HG01069.hp1 HG02129.hp1 HG04204.hp1 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0068 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0144 a0001c0001t0002g0060 a0001c0001t0002g0103	7	16	0.4375	32	c.527 others(51): Show c.527+34177_527+34178insATATATATATATATATATATATATAT ATATAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86533037	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	162	0.0062	32	c.640 others(51): Show c.640+18665_640+18666insATTTATTTATTTATTTATTTATTTAT TTATTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86599466	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	10	0.1000	32	c.641 others(51): Show c.641-51549_641-51518dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	46	0.0217	32	c.932 others(49): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT1_chr14_58632962_58653321	58652840	T T	TCCCTCTC others(25): Show TCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	386	0.0026	32	c.57 others(43): Show c.5706_*5707insCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	DACT1	ENSG00000165617.16	transcript	ENST00000395153.8	protein_coding		4520		chr14	TogoVar
DACT1_chr14_58632962_58653321	58652844	T T	TCCCTCTC others(25): Show TCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02896.hp2 HG03041.hp2 NA20805.hp2	a0005 a0005	a0005c0005 a0005c0018 a0005c0005 a0005c0018	a0005c0005t0001 a0005c0018t0001 a0005c0005t0001 a0005c0018t0001	a0005c0005t0001g0005 a0005c0005t0001g0033 a0005c0018t0001g0005 a0005c0005t0001g0005 a0005c0005t0001g0033 a0005c0018t0001g0005	4	385	0.0104	32	c.57 others(43): Show c.5710_*5711insCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	DACT1	ENSG00000165617.16	transcript	ENST00000395153.8	protein_coding		4524		chr14	TogoVar
DACT2_chr6_168301904_168324777	168311551	T T	TACACACA others(25): Show TACACACACACACAAACACACACACCCATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0010 a0010	a0010c0041 a0010c0041	a0010c0041t0004 a0010c0041t0004	a0010c0041t0004g0189 a0010c0041t0004g0189	1	163	0.0061	32	c.247 others(47): Show c.247-268_247-267insGTGTATGGGTGTGTGTGTTTGTGTGTGTGT GT	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168311596	A A	ACTCACAC others(25): Show ACTCACACCCATACACACACACTCACACCCATC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19055.hp1 NA18946.hp2 NA19055.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0026 a0001c0001 a0021c0026	a0001c0001t0001 a0021c0026t0001 a0001c0001t0001 a0021c0026t0001	a0001c0001t0001g0213 a0021c0026t0001g0212 a0001c0001t0001g0213 a0021c0026t0001g0212	2	424	0.0047	32	c.247 others(47): Show c.247-313_247-312insGATGGGTGTGAGTGTGTGTGTATGGGTGTG AG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168317504	C C	CTGAGGTC others(25): Show CTGAGGTCACGCAGAAGCTGCGATTGTGTCTGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp2 HG01192.hp1 HG03098.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0041 a0001c0001 a0010c0041	a0001c0001t0002 a0010c0041t0004 a0001c0001t0002 a0010c0041t0004	a0001c0001t0002g0037 a0010c0041t0004g0189 a0001c0001t0002g0037 a0010c0041t0004g0189	2	473	0.0042	32	c.246 others(49): Show c.246+1883_246+1884insCCAGACACAATCGCAGCTTCTGCGTGAC CTCA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(25): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG02486.hp2 HG00735.hp1 HG01192.hp1 HG02486.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0008 a0006c0011t0001 a0001c0001t0001 a0001c0001t0008 a0006c0011t0001	a0001c0001t0001g0342 a0001c0001t0008g0196 a0006c0011t0001g0201 a0001c0001t0001g0342 a0001c0001t0008g0196 a0006c0011t0001g0201	3	119	0.0252	32	c.121 others(49): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02451.hp1 NA18979.hp1 HG02132.hp1 HG02451.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0098 a0001c0002t0002g0154 a0001c0002t0002g0090 a0001c0002t0002g0098 a0001c0002t0002g0154	3	91	0.0330	32	c.929 others(47): Show c.929+198_929+229dupATATATATATATATATATATATATATATAT AT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	135	0.0074	32	c.26 others(43): Show c.2622_*2623insTCTCTCTCTCTCTCTATATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	135	0.0074	32	c.26 others(43): Show c.2622_*2623insTCTCTCTCTCTCTCTCTATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(25): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(33): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01070.hp1 HG01175.hp1 HG01515.hp2 HG01516.hp1 HG02523.hp1 HG02717.hp2 HG02738.hp2 HG02965.hp2 HG03195.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG04199.hp1 NA18612.hp1 NA18949.hp1 NA18954.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA19006.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19084.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0001c0001t0002 a0001c0002t0001 a0001c0002t0009	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0200 a0001c0001t0002g0218 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0250 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0296 a0001c0002t0001g0044 a0001c0002t0001g0154 a0001c0002t0001g0186 a0001c0002t0001g0210 a0001c0002t0009g0302	36	174	0.2069	32	c.27 others(43): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02723.hp1 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0287 a0001c0001t0001g0288 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0304	4	142	0.0282	32	c.27 others(43): Show c.2752_*2753insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACACAC others(25): Show ACACACACCCCAACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0071	1	86	0.0116	32	c.63- others(49): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACCCCAAC others(25): Show ACCCCAACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG03704.hp1 others(1): Show HG01243.hp2 HG01496.hp2 HG03704.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001	a0001c0001t0001g0137 a0001c0002t0001g0018 a0001c0002t0004g0075 others(1): Show a0001c0001t0001g0137 a0001c0002t0001g0018 a0001c0002t0004g0075 a0001c0005t0001g0131	4	89	0.0449	32	c.63- others(49): Show c.63-33479_63-33478insCCAACACACACACACACACACACACACA CCCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(25): Show CCCAACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01496.hp1 others(7): Show HG00423.hp1 HG00642.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG03017.hp1 NA18960.hp2 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0001c0020 a0002c0003 a0003c0012	a0001c0002t0001 a0001c0004t0012 a0001c0005t0001 others(4): Show a0001c0002t0001 a0001c0004t0012 a0001c0005t0001 a0001c0020t0001 a0002c0003t0001 a0002c0003t0006 a0003c0012t0001	a0001c0002t0001g0014 a0001c0002t0001g0109 a0001c0002t0001g0161 others(7): Show a0001c0002t0001g0014 a0001c0002t0001g0109 a0001c0002t0001g0161 a0001c0004t0012g0179 a0001c0005t0001g0058 a0001c0020t0001g0051 a0002c0003t0001g0094 a0002c0003t0001g0169 a0002c0003t0006g0041 a0003c0012t0001g0105	10	116	0.0862	32	c.63- others(49): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87615802	T T	TGTGCCCC others(25): Show TGTGCCCCCTCTGTCCACATATAGGTCACAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	234	0.0043	32	c.284 others(51): Show c.284+10629_284+10660dupTGCCCCCTCTGTCCACATATAGGTCA CAGGAG	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033287	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02602.hp1 HG02622.hp1 others(3): Show HG02258.hp1 HG02602.hp1 HG02622.hp1 HG03654.hp2 NA19060.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0009 a0001c0001t0001 a0001c0001t0013 a0001c0002t0009	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0013g0092 a0001c0002t0009g0081	6	112	0.0536	32	c.92+ others(47): Show c.92+6851_92+6882dupTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(25): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	32	c.54 others(43): Show c.5455_*5456insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAP_chr5_10674230_10766234	10722565	T T	TATACATA others(25): Show TATACATATATACATATACATGCATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03654.hp1 HG02055.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0149 a0001c0001t0010g0191 a0001c0001t0001g0149 a0001c0001t0010g0191	2	287	0.0070	32	c.152 others(51): Show c.152+25609_152+25610insGTATATATATGCATGTATATGTATAT ATGTAT	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0024 a0001c0001t0001g0095	2	146	0.0137	32	c.-43 others(43): Show c.-4392_-4391insTATATATATATACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	145	0.0069	32	c.-43 others(43): Show c.-4392_-4391insTATATATACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	145	0.0069	32	c.-43 others(43): Show c.-4392_-4391insTATATACACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	145	0.0069	32	c.-43 others(43): Show c.-4392_-4391insTATACACACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44722235	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0005 a0006c0009t0005	a0006c0009t0005g0272 a0006c0009t0005g0272	1	266	0.0038	32	c.83- others(45): Show c.83-631_83-630insACACACACACACACACACACACACACACACAC	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF10_chr9_37795797_37872664	37808473	T T	TATATATT others(25): Show TATATATTTATATAATATATAAATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	354	0.0028	32	c.539 others(49): Show c.539+7088_539+7119dupAAATATATAAAACATATATTTATATAAT ATAT	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18972.hp2 HG04204.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0013 a0001c0001t0003g0050 a0001c0001t0002g0013 a0001c0001t0003g0050	2	60	0.0333	32	c.665 others(51): Show c.665+10420_665+10451dupATATATATATATATATATATATATAT ATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03669.hp1 NA19005.hp1 HG00597.hp2 HG03669.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250	3	23	0.1304	32	c.-34 others(49): Show c.-342+575_-342+576insTATATATATATATATATATATATATATA TATA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27606358	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0113 a0006c0013t0001g0113	1	112	0.0089	32	c.-34 others(53): Show c.-342+15942_-342+15943insATATATATATATATATATATATAT ATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0061 a0003c0003t0003g0061	1	169	0.0059	32	c.-14 others(53): Show c.-142-11914_-142-11913insTATATATATATATATATATACACA CACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(25): Show TATATATATATATATATATATACACATACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0068 a0005c0007t0003g0068	1	169	0.0059	32	c.-14 others(53): Show c.-142-11914_-142-11913insTATATATATATATATATATACACA TACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(25): Show TATATATATATATATATATATATACATACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG01496.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0002g0128 a0001c0011t0001g0121 a0001c0001t0002g0128 a0001c0011t0001g0121	2	170	0.0118	32	c.-14 others(53): Show c.-142-11914_-142-11913insTATATATATATATATATATATACA TACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results