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
SLA2_chr20_36607318_36651196	36609156	T T	TACTTACA others(19): Show TACTTACATACATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	360	0.0028	26	c.47 others(37): Show c.4709_*4710insGTGTGTGTGTGTGTATGTATGTAAGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609256	C C	CACACACA others(19): Show CACACACACACACACACACACACACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	360	0.0028	26	c.46 others(37): Show c.4609_*4610insTAGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3061		chr20	TogoVar
SLA2_chr20_36607318_36651196	36614038	A A	ACTCACTA others(19): Show ACTCACTACACACAAAATTGCACTGTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	360	0.0028	26	c.666 others(39): Show c.666-78_666-53dupAACAGTGCAATTTTGTGTGTAGTGAG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	7/7			chr20	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	394	0.0025	26	c.24 others(37): Show c.2463_*2464insAAAAAAAATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLA_chr8_133031728_133107602	133037429	T T	TTTCTAAA others(19): Show TTTCTAAAAAATCCAGCTATTCTTACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0111 a0001c0001t0024g0111	1	344	0.0029	26	c.10 others(37): Show c.1069_*1094dupGGTAAGAATAGCTGGATTTTTTAGAA	SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	9/9	1094		chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86842876	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	350	0.0029	26	c.377 others(43): Show c.377+5862_377+5863insGAAAGAAAGAAAGAAAGAAAGAAAGA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48250676	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp2 HG03516.hp2 HG03130.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0001g0120 a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0001g0120	3	266	0.0113	26	c.178 others(43): Show c.1787-933_1787-908dupACACACACACACACACACACACACAC	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(19): Show ATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	354	0.0028	26	c.104 others(45): Show c.1049-4100_1049-4099insATATATATATATATATATAATTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56887772	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18906.hp1 HG01261.hp2 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0019 a0004c0013 a0003c0019 a0004c0013	a0003c0019t0004 a0004c0013t0006 a0003c0019t0004 a0004c0013t0006	a0003c0019t0004g0172 a0004c0013t0006g0072 a0003c0019t0004g0172 a0004c0013t0006g0072	2	420	0.0048	26	c.217 others(43): Show c.2179-152_2179-151insTTATATATATATATATATATATATAT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0256 a0001c0001t0010g0258 a0001c0001t0010g0256 a0001c0001t0010g0258	2	420	0.0048	26	c.292 others(45): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A7_chr5_1045384_1117063	1046808	A A	AGTGTGTG others(19): Show AGTGTGTGAATGAATGGGCGAGTTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0098 a0012c0017t0002g0098	1	118	0.0085	26	c.55 others(37): Show c.5551_*5552insACTAACTCGCCCATTCATTCACACAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3575		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GCCCCCCT others(19): Show GCCCCCCTCTAACCCTCTGCACGCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0107 a0001c0029t0002g0107	1	118	0.0085	26	c.125 others(43): Show c.125-4184_125-4183insTGGGCGTGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GCCCCCCT others(19): Show GCCCCCCTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03491.hp1 HG04184.hp1 others(4): Show HG02040.hp2 HG03491.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0034 a0001c0001 a0001c0034	a0001c0001t0001 a0001c0001t0018 a0001c0034t0001 a0001c0001t0001 a0001c0001t0018 a0001c0034t0001	a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0018g0096 a0001c0034t0001g0111	7	118	0.0593	26	c.125 others(43): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCT others(19): Show GGCCCCCTCTAACCCTCTGCACGCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0064 a0001c0013t0006g0064	1	118	0.0085	26	c.125 others(43): Show c.125-4429_125-4428insTGGGCGTGCAGAGGGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAT others(19): Show AGATAGATAGACAGACAGATAGCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03579.hp2 others(3): Show HG02055.hp1 HG02965.hp1 HG03579.hp2 HG06807.hp2 NA18948.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 a0001c0003t0009 a0001c0005t0002	a0001c0001t0001g0310 a0001c0001t0001g0367 a0001c0002t0002g0382 others(3): Show a0001c0001t0001g0310 a0001c0001t0001g0367 a0001c0002t0002g0382 a0001c0003t0006g0371 a0001c0003t0009g0112 a0001c0005t0002g0188	6	390	0.0154	26	c.111 others(45): Show c.111+18399_111+18400insAAGAGCTATCTGTCTGTCTATCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A4_chr7_135676231_135733186	135711963	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	372	0.0027	26	c.229 others(43): Show c.229-3739_229-3714dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding	2/15			chr7	TogoVar
SLC13A4_chr7_135676231_135733186	135718087	A A	ACACACAC others(19): Show ACACACACACACACACACACACACGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01109.hp1 others(43): Show HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG06807.hp1 NA18939.hp1 NA18947.hp2 NA18948.hp2 NA18964.hp1 NA18967.hp1 NA18973.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0008 a0001c0003t0003 a0001c0002t0003 a0001c0002t0008 a0001c0003t0003	a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0046 others(40): Show a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0096 a0001c0002t0003g0099 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0116 a0001c0002t0008g0073 a0001c0003t0003g0086	46	372	0.1237	26	c.228 others(43): Show c.228+3307_228+3308insCACGTGTGTGTGTGTGTGTGTGTGTG	SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding	2/15			chr7	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(19): Show ATATATACATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0202 a0001c0004t0004g0202	1	402	0.0025	26	c.135 others(45): Show c.1351+1463_1351+1464insTACATATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645622	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0355 a0004c0003t0001g0355	1	402	0.0025	26	c.135 others(45): Show c.1351+1463_1351+1464insTATATATATATATATATATATATACA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC15A4_chr12_128788194_128828958	128788832	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0073 a0002c0006t0004g0073	1	418	0.0024	26	c.53 others(37): Show c.5363_*5364insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding		4361		chr12	TogoVar
SLC15A5_chr12_16183485_16282685	16193780	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0002 a0005c0036t0002	a0005c0036t0002g0321 a0005c0036t0002g0321	1	324	0.0031	26	c.159 others(43): Show c.1592+539_1592+564dupTCTCTCTCTCTCTCTCTCTCTCTCTC	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	8/8			chr12	TogoVar
SLC15A5_chr12_16183485_16282685	16193780	G G	GGAGCGAG others(19): Show GGAGCGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	324	0.0031	26	c.159 others(43): Show c.1592+564_1592+565insTCTCTCTCTCTCTCTCTCTCTCGCTC	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	8/8			chr12	TogoVar
SLC16A12_chr10_89425299_89540594	89459516	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02080.hp1 HG02155.hp2 others(7): Show HG02040.hp1 HG02080.hp1 HG02155.hp2 NA18952.hp2 NA18963.hp2 NA18969.hp2 NA18986.hp1 NA19002.hp2 NA19003.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0003	a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0084 others(7): Show a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0248 a0002c0002t0001g0267 a0002c0002t0002g0068 a0002c0002t0002g0254 a0002c0002t0003g0230 a0002c0003t0003g0094	10	292	0.0343	26	c.200 others(43): Show c.200+2862_200+2863insCACACACACACACACACACACACACA	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding	3/7			chr10	TogoVar
SLC16A12_chr10_89425299_89540594	89539855	A A	ATTTTTCT others(19): Show ATTTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG03471.hp2 HG02145.hp2 HG02895.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015	a0001c0001t0006g0203 a0001c0001t0009g0207 a0001c0001t0015g0204 a0001c0001t0006g0203 a0001c0001t0009g0207 a0001c0001t0015g0204	3	292	0.0103	26	c.-46 others(37): Show c.-4626_-4601dupGAAAGAAAGAAAGAAAGAAAGAAAAA	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding		4262		chr10	TogoVar
SLC16A14_chr2_230029982_230073924	230067534	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp1 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0068 a0001c0001t0019g0046 a0001c0001t0002g0068 a0001c0001t0019g0046	2	420	0.0048	26	c.-15 others(42): Show c.-15+995_-15+1020dupGAGAGAGAGAGAGAGAGAGAGAGAGA	SLC16A14	ENSG00000163053.11	transcript	ENST00000295190.9	protein_coding	1/4			chr2	TogoVar
SLC16A2_chrX_74416493_74538916	74439186	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	235	0.0043	26	c.430 others(45): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp2 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0293 a0001c0001t0001g0295	2	432	0.0046	26	c.527 others(41): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A7_chr12_59591029_59794841	59669652	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02615.hp1 HG04184.hp2 HG00597.hp2 HG02615.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0004 a0001c0001t0002 a0001c0001t0006 a0002c0002t0004	a0001c0001t0002g0202 a0001c0001t0006g0221 a0002c0002t0004g0231 a0001c0001t0002g0202 a0001c0001t0006g0221 a0002c0002t0004g0231	3	260	0.0115	26	c.-31 others(45): Show c.-31+14410_-31+14435dupACACACACACACACACACACACACAC	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC16A9_chr10_59645764_59714850	59694801	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 NA18951.hp2 others(2): Show HG00733.hp1 HG01106.hp1 NA18951.hp2 NA18954.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0027 a0001c0001t0002 a0001c0001t0013 a0001c0001t0027	a0001c0001t0002g0088 a0001c0001t0002g0147 a0001c0001t0002g0158 others(2): Show a0001c0001t0002g0088 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0013g0302 a0001c0001t0027g0323	5	352	0.0142	26	c.-36 others(45): Show c.-36-10475_-36-10474insATATATATATATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG06807.hp1 HG04199.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0098 a0001c0001t0042g0090 a0001c0001t0003g0098 a0001c0001t0042g0090	2	352	0.0057	26	c.-36 others(45): Show c.-36-10491_-36-10490insGTGTATATATATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0190 a0001c0001t0007g0190	1	352	0.0028	26	c.-36 others(45): Show c.-36-10491_-36-10490insGTATATATATATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC17A1_chr6_25777915_25837052	25835888	C C	CACACACA others(19): Show CACACACACACAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	348	0.0029	26	c.-39 others(37): Show c.-3946_-3945insCTCTCTCTCTCTCTCTGTGTGTGTGT	SLC17A1	ENSG00000124568.12	transcript	ENST00000244527.10	protein_coding		3837		chr6	TogoVar
SLC17A1_chr6_25777915_25837052	25835888	C C	CACACACA others(19): Show CACACACAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	348	0.0029	26	c.-39 others(37): Show c.-3946_-3945insCTCTCTCTCTCTCTCTCTCTGTGTGT	SLC17A1	ENSG00000124568.12	transcript	ENST00000244527.10	protein_coding		3837		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25915149	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp2 HG01255.hp2 others(11): Show HG00735.hp2 HG01167.hp2 HG01255.hp2 HG02080.hp1 HG02083.hp1 HG02280.hp1 HG02622.hp2 HG02886.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03669.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0003	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0079 others(9): Show a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0003t0001g0097 a0001c0004t0003g0020 a0001c0004t0003g0089	14	380	0.0368	26	c.121 others(43): Show c.1211+324_1211+349dupTATATATATATATATATATATATATA	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding	10/11			chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25915149	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp1 HG02965.hp2 others(1): Show HG01099.hp2 HG01255.hp1 HG02965.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0106 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0106	4	380	0.0105	26	c.121 others(43): Show c.1211+349_1211+350insTATATATATATATATATATATATACA	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding	10/11			chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25915177	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01258.hp1 others(9): Show HG00140.hp2 HG00408.hp1 HG01258.hp1 HG02698.hp1 HG03688.hp1 HG04115.hp2 HG04199.hp2 NA18906.hp1 NA18948.hp1 NA19005.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0152 a0001c0002t0002g0025 a0001c0002t0002g0026 others(4): Show a0001c0001t0001g0152 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0045 a0001c0002t0002g0200 a0001c0002t0002g0224 a0001c0002t0002g0227	12	380	0.0316	26	c.121 others(43): Show c.1211+321_1211+322insCATATATATATATATATATATATATA	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding	10/11			chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932359	C C	CAGAAAGA others(19): Show CAGAAAGAAAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 NA18946.hp1 NA18954.hp1 others(4): Show HG01515.hp1 NA18946.hp1 NA18954.hp1 NA18955.hp2 NA19005.hp1 NA19063.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0198 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0198 a0001c0002t0002g0224 a0001c0002t0002g0226	7	380	0.0184	26	c.-21 others(37): Show c.-2167_-2166insTTCTTTCTTTCTTTCTTTTTCTTTCT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1669		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(19): Show AAAAGAAAGAAAGAAAGAAAGAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	380	0.0026	26	c.-21 others(37): Show c.-2175_-2174insCTTTTTCTTTCTTTCTTTCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932409	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(3): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0103	6	380	0.0158	26	c.-22 others(37): Show c.-2217_-2216insCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1719		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932411	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00738.hp1 others(3): Show HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0147 a0001c0003t0001g0037 a0001c0003t0001g0038 others(3): Show a0001c0001t0001g0147 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0096 a0001c0003t0001g0162 a0001c0003t0003g0021	6	380	0.0158	26	c.-22 others(37): Show c.-2219_-2218insTTCTTTCTTTCTTTCTTTCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1721		chr6	TogoVar
SLC17A5_chr6_73588379_73658992	73595937	T T	TATATATA others(19): Show TATATATACGTATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	324	0.0031	26	c.135 others(43): Show c.1351-724_1351-723insGTATATGTATATATATACGTATATAT	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	10/10			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792253	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	304	0.0033	26	c.184 others(43): Show c.184-1982_184-1981insCTCTCTCTCTCTCTCTCTCTCTCTCT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792370	G G	GAAAGAGA others(19): Show GAAAGAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 NA18522.hp1 HG02615.hp2 HG03540.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0026	3	304	0.0099	26	c.184 others(43): Show c.184-2099_184-2098insTTCTTTCTTTCTCTTTCTTTCTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC1A1_chr9_4485468_4592469	4545189	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03098.hp2 NA18992.hp1 others(1): Show HG01496.hp2 HG03098.hp2 NA18992.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0012g0095 a0001c0002t0001g0248 a0001c0002t0002g0245 others(1): Show a0001c0001t0012g0095 a0001c0002t0001g0248 a0001c0002t0002g0245 a0001c0003t0001g0120	4	384	0.0104	26	c.232 others(41): Show c.232+487_232+512dupTCTCTCTCTCTCTCTCTCTCTCTCTC	SLC1A1	ENSG00000106688.12	transcript	ENST00000262352.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC1A1_chr9_4485468_4592469	4580651	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0380 a0001c0002t0002g0380	1	384	0.0026	26	c.119 others(45): Show c.1194-2386_1194-2385insGTGTGTGTGTATGTGTGTGTGTGTAT	SLC1A1	ENSG00000106688.12	transcript	ENST00000262352.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC1A2_chr11_35246205_35424558	35284087	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG01175.hp1 others(21): Show HG00544.hp2 HG00735.hp1 HG01175.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG02027.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02970.hp1 HG03130.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18946.hp2 NA18985.hp2 NA18993.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(10): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0055 a0001c0003t0024 a0001c0003t0060 a0001c0003t0091 a0001c0004t0038 a0001c0004t0052 a0001c0009t0005	a0001c0002t0001g0006 a0001c0002t0001g0030 a0001c0002t0001g0049 others(21): Show a0001c0002t0001g0006 a0001c0002t0001g0030 a0001c0002t0001g0049 a0001c0002t0001g0090 a0001c0002t0005g0002 a0001c0002t0005g0015 a0001c0002t0005g0027 a0001c0002t0005g0078 a0001c0002t0005g0092 a0001c0002t0006g0152 a0001c0002t0008g0164 a0001c0002t0010g0263 a0001c0002t0010g0299 a0001c0002t0011g0223 a0001c0002t0011g0231 a0001c0002t0011g0242 a0001c0002t0011g0266 a0001c0002t0055g0003 a0001c0003t0024g0029 a0001c0003t0060g0123 a0001c0003t0091g0303 a0001c0004t0038g0273 a0001c0004t0052g0079 a0001c0009t0005g0070	24	306	0.0784	26	c.128 others(45): Show c.1286+2669_1286+2670insTATATATATATATATATATATATATA	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	8/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35284087	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0276 a0001c0007t0084g0276	1	306	0.0033	26	c.128 others(45): Show c.1286+2669_1286+2670insTATATATATATATATATATATATAAA	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	8/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35284110	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02922.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0029 a0001c0003t0014 a0001c0003t0029	a0001c0003t0014g0280 a0001c0003t0029g0214 a0001c0003t0014g0280 a0001c0003t0029g0214	2	306	0.0065	26	c.128 others(45): Show c.1286+2646_1286+2647insTTATATATATATATATATATATATAT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	8/10			chr11	TogoVar
SLC1A3_chr5_36601606_36693334	36636045	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18969.hp1 NA18951.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0310 a0001c0001t0002g0072 a0001c0001t0002g0310	2	380	0.0053	26	c.319 others(43): Show c.319+6466_319+6491dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SLC1A3	ENSG00000079215.15	transcript	ENST00000265113.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC1A4_chr2_64984399_65028865	65002570	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	394	0.0025	26	c.570 others(43): Show c.570+1105_570+1106insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC1A4	ENSG00000115902.11	transcript	ENST00000234256.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results