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
LSAMP_chr3_115797374_116450487	115818790	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02129.hp1 HG03130.hp1 others(5): Show HG00735.hp2 HG02129.hp1 HG03130.hp1 HG03704.hp1 HG03704.hp2 NA18960.hp1 NA18960.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 others(5): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0028 a0001c0001t0038 a0001c0001t0058 a0001c0002t0013 a0001c0005t0001	a0001c0001t0010g0043 a0001c0001t0013g0044 a0001c0001t0019g0003 others(5): Show a0001c0001t0010g0043 a0001c0001t0013g0044 a0001c0001t0019g0003 a0001c0001t0028g0031 a0001c0001t0038g0082 a0001c0001t0058g0093 a0001c0002t0013g0034 a0001c0005t0001g0067	8	104	0.0769	22	c.920 others(39): Show c.920-8398_920-8377dupTATATATATATATATATATATA	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	6/6			chr3	TogoVar
LSAMP_chr3_115797374_116450487	115939570	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01433.hp2 others(2): Show HG00558.hp2 HG00733.hp1 HG01433.hp2 HG02735.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0037	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0002g0061 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0002g0061 a0001c0001t0010g0054 a0001c0001t0037g0087	5	104	0.0481	22	c.514 others(41): Show c.514+79944_514+79945insGAAAGAAAGAAAGAAAGAAAGA	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	3/6			chr3	TogoVar
LSAMP_chr3_115797374_116450487	116162768	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	104	0.0096	22	c.156 others(41): Show c.156-76234_156-76213dupGTGTGTGTGTGTGTGTGTGTGT	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSAMP_chr3_115797374_116450487	116197130	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02886.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0067 a0001c0001t0057 a0001c0001t0067	a0001c0001t0057g0008 a0001c0001t0067g0064 a0001c0001t0057g0008 a0001c0001t0067g0064	2	104	0.0192	22	c.156 others(43): Show c.156-110596_156-110575dupGTGTGTGTGTGTGTGTGTGTGT	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSAMP_chr3_115797374_116450487	116273683	C C	CAGATATA others(15): Show CAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02572.hp2 others(3): Show HG01106.hp1 HG01884.hp1 HG02572.hp2 HG02717.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0033 a0001c0001t0046 others(3): Show a0001c0001t0009 a0001c0001t0033 a0001c0001t0046 a0001c0001t0048 a0001c0001t0066 a0001c0001t0068	a0001c0001t0009g0099 a0001c0001t0033g0006 a0001c0001t0046g0098 others(3): Show a0001c0001t0009g0099 a0001c0001t0033g0006 a0001c0001t0046g0098 a0001c0001t0048g0100 a0001c0001t0066g0005 a0001c0001t0068g0091	6	104	0.0577	22	c.155 others(43): Show c.155+171193_155+171194insATATATATATATATATATATCT	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSAMP_chr3_115797374_116450487	116273707	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18977.hp2 HG00558.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0032 a0001c0001t0034g0018 a0001c0001t0008g0032 a0001c0001t0034g0018	2	104	0.0192	22	c.155 others(43): Show c.155+171169_155+171170insGTGTATATATATATATATATAT	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645511	C C	CACACACA others(15): Show CACACACACACACACACAGACAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01928.hp1 HG01934.hp2 others(6): Show HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG02148.hp2 HG02602.hp2 HG02738.hp1 NA19058.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0023	a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0006g0110 a0001c0001t0007g0099 a0001c0001t0007g0120 a0001c0001t0009g0077 a0001c0001t0012g0129 a0001c0001t0023g0100	9	408	0.0221	22	c.162 others(39): Show c.1623+652_1623+653insCTGTCTGTGTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645537	C C	CACACACA others(15): Show CACACACACACACACACAGACAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02683.hp2 HG03688.hp2 others(5): Show HG00642.hp1 HG02683.hp2 HG03688.hp2 HG03927.hp2 NA18747.hp2 NA18949.hp1 NA18966.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0053	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0134 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0006g0289 a0001c0001t0007g0113 a0001c0001t0016g0138 a0001c0001t0053g0131	8	408	0.0196	22	c.162 others(39): Show c.1623+626_1623+627insCTGTCTGTGTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667923	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0194 a0001c0003t0005g0194	1	408	0.0025	22	c.227 others(39): Show c.227-1352_227-1351insTTTTTTTTTTTTTTTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667942	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18972.hp2 NA19081.hp1 NA18959.hp1 NA18972.hp2 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0150 a0001c0003t0005g0151 a0001c0003t0005g0152 a0001c0003t0005g0150 a0001c0003t0005g0151 a0001c0003t0005g0152	3	408	0.0074	22	c.227 others(39): Show c.227-1371_227-1370insATATTTTTTTTTTTTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667942	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0144 a0001c0003t0005g0144	1	408	0.0025	22	c.227 others(39): Show c.227-1371_227-1370insATATATTTTTTTTTTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSM10_chr1_36388436_36402908	36402885	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01943.hp1 HG01978.hp1 others(11): Show HG00609.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02273.hp2 NA18747.hp1 NA18967.hp2 NA18970.hp1 NA18981.hp1 NA19066.hp1 NA19070.hp1 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	14	432	0.0324	22	c.-51 others(33): Show c.-5144_-5143insTATATATATATATATATATATA	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4978		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(15): Show TATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	432	0.0023	22	c.-51 others(33): Show c.-5159_-5158insGTGTGTATATATATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(15): Show TATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	432	0.0023	22	c.-51 others(33): Show c.-5159_-5158insGTGTATATATATATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG04115.hp1 NA18979.hp2 others(6): Show HG01192.hp2 HG04115.hp1 NA18979.hp2 NA18984.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19054.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0006g0054	9	432	0.0208	22	c.-51 others(33): Show c.-5159_-5158insGTATATATATATATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM12_chr17_44029328_44071671	44055682	T T	TATATATA others(15): Show TATATATAAAATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0273 a0001c0001t0002g0015 a0001c0001t0002g0273	2	298	0.0067	22	c.258 others(39): Show c.258+8097_258+8118dupTATATATATATATTTTATATAT	LSM12	ENSG00000161654.10	transcript	ENST00000293406.8	protein_coding	2/4			chr17	TogoVar
LSM8_chr7_118179164_118209035	118206968	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	414	0.0024	22	c.14 others(35): Show c.14966_*14967insTATATATATATATATATATATA	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding		2934		chr7	TogoVar
LSP1_chr11_1848084_1897263	1849554	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02129.hp2 NA19058.hp2 HG01258.hp1 HG02129.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0001 a0001c0003t0001 a0002c0005t0001 a0001c0002t0001 a0001c0003t0001 a0002c0005t0001	a0001c0002t0001g0002 a0001c0003t0001g0065 a0002c0005t0001g0013 a0001c0002t0001g0002 a0001c0003t0001g0065 a0002c0005t0001g0013	3	360	0.0083	22	c.-35 others(33): Show c.-3591_-3590insCGCGCACACACACACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3529		chr11	TogoVar
LSP1_chr11_1848084_1897263	1849554	G G	GCGCGCGC others(15): Show GCGCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00738.hp1 others(5): Show HG00544.hp2 HG00639.hp2 HG00738.hp1 HG01192.hp2 HG02004.hp1 HG02027.hp2 NA19081.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0006	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0003c0004t0001 a0003c0006t0001	a0001c0002t0001g0111 a0001c0003t0001g0054 a0001c0003t0001g0179 others(5): Show a0001c0002t0001g0111 a0001c0003t0001g0054 a0001c0003t0001g0179 a0002c0001t0001g0080 a0002c0001t0002g0016 a0003c0004t0001g0231 a0003c0004t0001g0237 a0003c0006t0001g0013	8	360	0.0222	22	c.-35 others(33): Show c.-3591_-3590insCGCGCGCACACACACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3529		chr11	TogoVar
LSP1_chr11_1848084_1897263	1849554	G G	GCGCGCGC others(15): Show GCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	360	0.0028	22	c.-35 others(33): Show c.-3591_-3590insCGCGCGCGCACACACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3529		chr11	TogoVar
LSR_chr19_35244002_35272964	35251843	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02083.hp1 HG02129.hp2 others(13): Show HG00544.hp1 HG02083.hp1 HG02129.hp2 HG02258.hp2 HG02723.hp1 HG03130.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18997.hp2 NA19003.hp1 NA19081.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0055 a0002c0001t0001g0056 others(10): Show a0002c0001t0001g0053 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0186 a0002c0001t0001g0195 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213	16	438	0.0365	22	c.454 others(39): Show c.454+1193_454+1194insTTTTTTTTTTTTTTTTTTTTTT	LSR	ENSG00000105699.17	transcript	ENST00000605618.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP1_chr2_32941953_33404509	33103586	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0107 a0001c0001t0010g0107	1	164	0.0061	22	c.864 others(39): Show c.864-6976_864-6955dupTGTGTGTGTGTGTGTGTGTGTG	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33182687	G G	GAGATATA others(15): Show GAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG02886.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0016 a0001c0002 a0002c0016	a0001c0002t0013 a0002c0016t0019 a0001c0002t0013 a0002c0016t0019	a0001c0002t0013g0056 a0002c0016t0019g0081 a0001c0002t0013g0056 a0002c0016t0019g0081	2	164	0.0122	22	c.120 others(41): Show c.1202-4168_1202-4167insGATATATATATATATATATATA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33202022	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0002 a0012c0023t0002	a0012c0023t0002g0029 a0012c0023t0002g0029	1	164	0.0061	22	c.170 others(43): Show c.1701+13189_1701+13210dupCACACACACACACACACACACA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33202022	A A	AACACACA others(15): Show AACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG01884.hp2 HG02886.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0037 a0001c0002 a0008c0037	a0001c0002t0013 a0008c0037t0005 a0001c0002t0013 a0008c0037t0005	a0001c0002t0013g0056 a0008c0037t0005g0116 a0001c0002t0013g0056 a0008c0037t0005g0116	2	164	0.0122	22	c.170 others(43): Show c.1701+13182_1701+13183insGACACACACACACACACACACA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33382111	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0005 a0002c0034t0005	a0002c0034t0005g0149 a0002c0034t0005g0149	1	164	0.0061	22	c.471 others(41): Show c.4712-7072_4712-7071insTTTTTTTTTTTTTTTTTTTTGT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	31/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP2_chr14_74493183_74617237	74564037	A A	ATATATAT others(15): Show ATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	282	0.0036	22	c.831 others(39): Show c.831-8345_831-8344insAATATATATATAAATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564039	A A	ATATATAT others(15): Show ATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0010t0003 a0001c0003t0001 a0001c0010t0003	a0001c0003t0001g0129 a0001c0010t0003g0160 a0001c0003t0001g0129 a0001c0010t0003g0160	2	282	0.0071	22	c.831 others(39): Show c.831-8368_831-8347dupAATATATATATAAATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74604164	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02615.hp1 others(2): Show HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02723.hp2 HG02922.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0021 a0001c0001 a0001c0002 a0005c0021	a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0005c0021t0001	a0001c0001t0003g0120 a0001c0001t0005g0016 a0001c0001t0005g0017 others(2): Show a0001c0001t0003g0120 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0002t0003g0070 a0005c0021t0001g0275	5	282	0.0177	22	c.495 others(37): Show c.495-460_495-459insTTTTTTTTTTTTTTTTTTTTTT	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	1/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74604164	C C	CAAACAAA others(15): Show CAAACAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0005 a0004c0019t0005	a0004c0019t0005g0020 a0004c0019t0005g0020	1	282	0.0036	22	c.495 others(37): Show c.495-460_495-459insTTTTTTTTTTTTTTTTTTGTTT	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	1/35			chr14	TogoVar
LTBP4_chr19_40596369_40634818	40615195	G G	GGGGGGGG others(15): Show GGGGGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0253 a0002c0030t0001g0253	1	338	0.0030	22	c.281 others(39): Show c.2812+760_2812+761insGGGGGGGGGGTGGGGGGGGGGG	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625286	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	338	0.0030	22	c.383 others(39): Show c.3833-550_3833-549insTTATATATATATATATATATAT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625316	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	338	0.0030	22	c.383 others(39): Show c.3833-540_3833-539insATATATATATATATATATTTTT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625326	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0214 a0002c0007t0001g0214	1	338	0.0030	22	c.383 others(39): Show c.3833-530_3833-529insTTTTTTTTTTTTTTTTTTTTGT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40630113	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0317 a0009c0015t0001g0317	1	338	0.0030	22	c.56 others(31): Show c.563_*564insTTTTTTTTTTTTTTTTTTTTTT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		296		chr19	TogoVar
LTBP4_chr19_40596369_40634818	40633790	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0124 a0001c0006t0003g0124	1	338	0.0030	22	c.42 others(33): Show c.4240_*4241insAGAAAGAAAGAAAGAAAGAAAG	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		3973		chr19	TogoVar
LTBP4_chr19_40596369_40634818	40633816	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0023	1	338	0.0030	22	c.42 others(33): Show c.4266_*4267insAAAGAAAGAAAGAAAGAAAGAA	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		3999		chr19	TogoVar
LTN1_chr21_28923144_28997877	28927475	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	404	0.0025	22	c.29 others(33): Show c.2972_*2973insTATATATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		668		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	404	0.0025	22	c.29 others(33): Show c.2946_*2947insAATATATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0153 a0003c0003t0001g0153	1	404	0.0025	22	c.29 others(33): Show c.2946_*2947insAAAATATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0009 a0004c0029t0009	a0004c0029t0009g0042 a0004c0029t0009g0042	1	404	0.0025	22	c.29 others(33): Show c.2946_*2947insAAAAAATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LUC7L2_chr7_139354894_139428454	139399449	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19000.hp2 NA18980.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0248 a0001c0001t0001g0177 a0001c0001t0001g0248	2	276	0.0073	22	c.255 others(37): Show c.255+769_255+790dupTTTTTTTTTTTTTTTTTTTTTT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L3_chr17_50714603_50761219	50724611	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	392	0.0026	22	c.99+ others(37): Show c.99+4794_99+4815dupGTGTGTGTGTGTGTGTGTGTGT	LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
LUC7L_chr16_183990_234449	186357	G G	GAGGATCA others(15): Show GAGGATCAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	350	0.0029	22	c.28 others(33): Show c.2840_*2841insTCCCTCCCGTGTCGCTGATCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2632		chr16	TogoVar
LUC7L_chr16_183990_234449	186391	G G	GAGGAACA others(15): Show GAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	350	0.0029	22	c.28 others(33): Show c.2806_*2807insTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2598		chr16	TogoVar
LUC7L_chr16_183990_234449	186425	G G	GAGGAACA others(15): Show GAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	350	0.0029	22	c.27 others(33): Show c.2772_*2773insTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2564		chr16	TogoVar
LUC7L_chr16_183990_234449	186884	G G	GAGGAACA others(15): Show GAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	350	0.0029	22	c.23 others(33): Show c.2313_*2314insTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2105		chr16	TogoVar
LUC7L_chr16_183990_234449	188349	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01361.hp1 others(21): Show HG00609.hp2 HG00642.hp2 HG01361.hp1 HG01515.hp1 HG02135.hp1 HG02300.hp1 HG02630.hp2 HG02895.hp2 HG03041.hp1 HG03540.hp1 HG03669.hp2 NA18942.hp2 NA18949.hp2 NA18955.hp1 NA18973.hp2 NA18974.hp1 NA18982.hp2 NA19011.hp1 NA19043.hp1 NA19057.hp1 NA19066.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0208 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0333 a0001c0001t0002g0339 a0002c0002t0001g0060	24	350	0.0686	22	c.84 others(31): Show c.848_*849insTTTTTTTTTTTTTTTTTTTTTT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		640		chr16	TogoVar
LURAP1L_chr9_12770020_12828060	12786581	T T	TATATATA others(15): Show TATATATATATATATATATAAAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG04115.hp2 NA18940.hp1 others(3): Show HG02523.hp2 HG04115.hp2 NA18940.hp1 NA18947.hp2 NA18948.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0167 a0001c0001t0001g0225 a0001c0001t0003g0098 others(3): Show a0001c0001t0001g0167 a0001c0001t0001g0225 a0001c0001t0003g0098 a0001c0001t0003g0168 a0002c0002t0001g0059 a0002c0002t0001g0071	6	418	0.0144	22	c.312 others(41): Show c.312+10555_312+10556insTATATATATATATATATAAACA	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
LURAP1L_chr9_12770020_12828060	12788148	G G	GAAGAAAG others(15): Show GAAGAAAGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	418	0.0024	22	c.312 others(41): Show c.312+12130_312+12131insGAAGAAAGAAAGAAAGAAAGAA	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results