Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SKIL_chr3_170352715_170401835	170400769	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	362	0.0028	29	c.83 others(40): Show c.8352_*8353insTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3935		chr3	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03225.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0266 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0266	3	344	0.0087	29	c.267 others(44): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	394	0.0025	29	c.24 others(40): Show c.2463_*2464insAAATATATATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	394	0.0025	29	c.24 others(40): Show c.2463_*2464insAAAAAAAAAAATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(22): Show ATATATATATATATATATATATAATTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02622.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0134 a0001c0002t0001g0135 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0149	5	354	0.0141	29	c.104 others(48): Show c.1049-4100_1049-4099insATATATATATATATATATATAATTTT TTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0006 a0010c0013t0006	a0010c0013t0006g0019 a0010c0013t0006g0019	1	354	0.0028	29	c.104 others(48): Show c.1049-4100_1049-4099insATATATATATATATATATATTTTTTT TTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0048 a0002c0011t0005g0048	1	420	0.0024	29	c.292 others(48): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34285713	T T	TACACACA others(22): Show TACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	274	0.0037	29	c.272 others(48): Show c.272-10325_272-10324insTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TATACACA others(22): Show TATACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG03209.hp1 HG01891.hp1 HG02055.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0025 a0001c0009t0049 a0001c0009t0025 a0001c0009t0049	a0001c0009t0025g0055 a0001c0009t0025g0058 a0001c0009t0049g0015 a0001c0009t0025g0055 a0001c0009t0025g0058 a0001c0009t0049g0015	3	274	0.0110	29	c.272 others(48): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTGTGTG TAT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070185	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp1 HG02965.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0015 a0001c0017 a0002c0015	a0001c0017t0004 a0002c0015t0015 a0001c0017t0004 a0002c0015t0015	a0001c0017t0004g0020 a0002c0015t0015g0085 a0001c0017t0004g0020 a0002c0015t0015g0085	2	118	0.0170	29	c.224 others(48): Show c.2241+3447_2241+3448insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070526	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 NA18990.hp2 HG02965.hp1 HG03209.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0015 a0001c0009 a0002c0002 a0002c0015	a0001c0009t0006 a0002c0002t0002 a0002c0015t0015 a0001c0009t0006 a0002c0002t0002 a0002c0015t0015	a0001c0009t0006g0017 a0002c0002t0002g0068 a0002c0015t0015g0085 a0001c0009t0006g0017 a0002c0002t0002g0068 a0002c0015t0015g0085	3	118	0.0254	29	c.224 others(48): Show c.2241+3106_2241+3107insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070784	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTACGCAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	29	c.224 others(48): Show c.2241+2848_2241+2849insCTGCGTAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070784	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	29	c.224 others(48): Show c.2241+2848_2241+2849insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071289	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02622.hp2 HG03209.hp1 HG02132.hp2 HG02622.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0002c0002 a0001c0005 a0001c0009 a0002c0002	a0001c0005t0002 a0001c0009t0006 a0002c0002t0002 a0001c0005t0002 a0001c0009t0006 a0002c0002t0002	a0001c0005t0002g0044 a0001c0009t0006g0017 a0002c0002t0002g0106 a0001c0005t0002g0044 a0001c0009t0006g0017 a0002c0002t0002g0106	3	118	0.0254	29	c.224 others(48): Show c.2241+2343_2241+2344insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072138	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19065.hp1 HG02965.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0015 a0002c0008 a0002c0015	a0002c0008t0002 a0002c0015t0015 a0002c0008t0002 a0002c0015t0015	a0002c0008t0002g0067 a0002c0015t0015g0085 a0002c0008t0002g0067 a0002c0015t0015g0085	2	118	0.0170	29	c.224 others(48): Show c.2241+1494_2241+1495insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072232	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0025 a0001c0010t0005g0025	1	118	0.0085	29	c.224 others(48): Show c.2241+1400_2241+1401insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072326	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	29	c.224 others(48): Show c.2241+1306_2241+1307insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072462	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03195.hp2 HG00639.hp1 HG03195.hp2	a0002 a0004 a0002 a0004	a0002c0012 a0004c0027 a0002c0012 a0004c0027	a0002c0012t0003 a0004c0027t0004 a0002c0012t0003 a0004c0027t0004	a0002c0012t0003g0074 a0004c0027t0004g0029 a0002c0012t0003g0074 a0004c0027t0004g0029	2	118	0.0170	29	c.224 others(48): Show c.2241+1170_2241+1171insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072515	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0059 a0001c0014t0003g0059	1	118	0.0085	29	c.224 others(48): Show c.2241+1117_2241+1118insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072608	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0080 a0002c0008t0004g0080	1	118	0.0085	29	c.224 others(48): Show c.2241+1024_2241+1025insCTGCATAAGTGTGATGCCGTGTGCTG GGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073081	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0107 a0001c0028t0002g0107	1	118	0.0085	29	c.224 others(46): Show c.2241+551_2241+552insCTGCATAAGTGTGATGCCGTGTGCTGGG G	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073176	C C	CCCCCAGC others(22): Show CCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03579.hp1 HG02273.hp2 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0010 a0002c0016t0001 a0002c0016t0010	a0002c0016t0001g0057 a0002c0016t0010g0082 a0002c0016t0001g0057 a0002c0016t0010g0082	2	118	0.0170	29	c.224 others(46): Show c.2241+456_2241+457insCTGCATAAGTGTGATGCCGTGTGCTGGG G	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A2_chrX_74416493_74538916	74485801	G G	GCAATGGG others(22): Show GCAATGGGTGCCTGGCTGGATCGGGAGCAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp2 HG02965.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0009g0201 a0002c0002t0001g0075 a0001c0001t0009g0201 a0002c0002t0001g0075	2	235	0.0085	29	c.431 others(48): Show c.431-35168_431-35167insGGGAGCATCAATGGGTGCCTGGCTGG ATC	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A4_chr1_110357857_110396026	110374011	A A	ATATATAT others(22): Show ATATATATATATATATATATATCCTTAGTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18964.hp2 NA18968.hp2 others(4): Show HG03688.hp2 NA18964.hp2 NA18968.hp2 NA18990.hp1 NA18998.hp1 NA19066.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0166 others(2): Show a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0166 a0001c0002t0002g0186 a0001c0002t0014g0187	7	432	0.0162	29	c.133 others(48): Show c.1336+1446_1336+1447insAACTAAGGATATATATATATATATAT ATA	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	8/8			chr1	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp1 HG02300.hp1 others(3): Show HG02027.hp2 HG02132.hp1 HG02300.hp1 HG02572.hp2 NA19060.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0105 a0001c0001t0001g0242 a0001c0001t0001g0255 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0264 a0002c0003t0001g0070 a0002c0003t0001g0112	6	432	0.0139	29	c.527 others(44): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A7_chr12_59591029_59794841	59672090	T T	TGCATATA others(22): Show TGCATATATACGTATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18969.hp2 HG03710.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0132 a0001c0001t0007g0139 a0001c0001t0002g0132 a0001c0001t0007g0139	2	260	0.0077	29	c.-31 others(48): Show c.-31+16840_-31+16841insGCATATATACGTATATATATGTGTAT ATA	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5			chr12	TogoVar
SLC16A8_chr22_38073137_38089184	38084929	T T	TTTACAAA others(22): Show TTTACAAAAGATGTACAGAGAGGGCATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02486.hp2 others(8): Show HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03471.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0012	a0001c0006 a0002c0002 a0002c0024 others(2): Show a0001c0006 a0002c0002 a0002c0024 a0011c0016 a0012c0014	a0001c0006t0002 a0002c0002t0001 a0002c0024t0001 others(2): Show a0001c0006t0002 a0002c0002t0001 a0002c0024t0001 a0011c0016t0001 a0012c0014t0001	a0001c0006t0002g0015 a0002c0002t0001g0020 a0002c0002t0001g0035 others(5): Show a0001c0006t0002g0015 a0002c0002t0001g0020 a0002c0002t0001g0035 a0002c0002t0001g0045 a0002c0002t0001g0082 a0002c0024t0001g0053 a0011c0016t0001g0054 a0012c0014t0001g0046	11	452	0.0243	29	c.-12 others(40): Show c.-1299_-1271dupCACATGCCCTCTCTGTACATCTTTTGTAA	SLC16A8	ENSG00000100156.12	transcript	ENST00000681075.2	protein_coding		746		chr22	TogoVar
SLC17A6_chr11_22333381_22384503	22339151	A A	ATATGTTA others(22): Show ATATGTTATATATATATGTTATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19091.hp2 NA19056.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	450	0.0044	29	c.86+ others(42): Show c.86+532_86+533insTATGTTATATATATATGTTATATATATAT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11			chr11	TogoVar
SLC18B1_chr6_132764370_132803637	132792224	T T	TAAGAAAG others(22): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0074 a0002c0003t0004g0074	1	304	0.0033	29	c.184 others(46): Show c.184-1953_184-1952insTCTTTTCTTTCTTTCTTTCTTTCTTTCT T	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792225	C C	CAAGAAAG others(22): Show CAAGAAAGAAAGAAAGAAAGAAAGACAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0068 a0002c0003t0015g0068	1	304	0.0033	29	c.184 others(46): Show c.184-1954_184-1953insTTCTGTCTTTCTTTCTTTCTTTCTTTCT T	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792271	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0013 a0002c0011t0013	a0002c0011t0013g0037 a0002c0011t0013g0037	1	304	0.0033	29	c.184 others(46): Show c.184-2000_184-1999insTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792288	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0096 a0004c0007t0001g0096	1	304	0.0033	29	c.184 others(46): Show c.184-2017_184-2016insCTCTTTCTTTCTTTCTTTCTTTCTTTCT T	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792348	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0006 a0002c0004t0005g0006	1	304	0.0033	29	c.184 others(46): Show c.184-2077_184-2076insTCTCTTTCTTTCTCTTTCTTTCTTTCTT T	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC1A2_chr11_35246205_35424558	35248740	A A	AGTGCATG others(22): Show AGTGCATGGATCACCAGGGGATTACTAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(20): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG01256.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02155.hp2 HG02293.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18970.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027 a0001c0001t0044 a0001c0001t0066 a0001c0001t0067 a0001c0001t0087 a0001c0002t0001 a0001c0002t0010	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0041 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0176 a0001c0001t0010g0225 a0001c0001t0010g0237 a0001c0001t0010g0254 a0001c0001t0027g0173 a0001c0001t0027g0179 a0001c0001t0044g0057 a0001c0001t0066g0180 a0001c0001t0067g0129 a0001c0001t0087g0258 a0001c0002t0001g0049 a0001c0002t0001g0081 a0001c0002t0010g0263	23	306	0.0752	29	c.12 others(42): Show c.12153_*12154insCGCTAGTAATCCCCTGGTGATCCATGCAC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2464		chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35248744	C C	CATGGATC others(22): Show CATGGATCACCAGGGGATTATTAGCAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(77): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG02040.hp1 HG02040.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0050 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0076 a0001c0001t0085 a0001c0002t0003 a0001c0002t0009 a0001c0002t0061 a0001c0003t0021 a0001c0008t0003 a0001c0010t0003 a0001c0012t0009	a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 others(77): Show a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0195 a0001c0001t0003g0199 a0001c0001t0009g0229 a0001c0001t0009g0248 a0001c0001t0009g0257 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0009g0261 a0001c0001t0009g0262 a0001c0001t0009g0271 a0001c0001t0018g0142 a0001c0001t0018g0145 a0001c0001t0018g0191 a0001c0001t0019g0131 a0001c0001t0019g0192 a0001c0001t0019g0193 a0001c0001t0025g0099 a0001c0001t0025g0101 a0001c0001t0039g0066 a0001c0001t0040g0103 a0001c0001t0041g0106 a0001c0001t0050g0013 a0001c0001t0062g0143 a0001c0001t0063g0171 a0001c0001t0064g0166 a0001c0001t0076g0207 a0001c0001t0085g0284 a0001c0002t0003g0149 a0001c0002t0009g0227 a0001c0002t0061g0116 a0001c0003t0021g0211 a0001c0008t0003g0200 a0001c0010t0003g0167 a0001c0012t0009g0255	80	306	0.2614	29	c.12 others(42): Show c.12149_*12150insACACTGCTAATAATCCCCTGGTGATCCAT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2460		chr11	TogoVar
SLC1A4_chr2_64984399_65028865	65002570	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19240.hp1 NA19067.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0039 a0002c0005t0006 a0001c0001t0039 a0002c0005t0006	a0001c0001t0039g0130 a0002c0005t0006g0114 a0001c0001t0039g0130 a0002c0005t0006g0114	2	394	0.0051	29	c.570 others(46): Show c.570+1105_570+1106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC1A4	ENSG00000115902.11	transcript	ENST00000234256.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC20A2_chr8_42411475_42506231	42451799	G G	GGAAGAGA others(22): Show GGAAGAGATGGAGGAGGAGAAGGAAGGATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	238	0.0042	29	c.614 others(46): Show c.614-7038_614-7037insTATCCTTCCTTCTCCTCCTCCATCTCTT C	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10			chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42464092	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03688.hp2 HG04199.hp1 HG00438.hp1 HG03688.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0094 a0001c0001t0001g0132 a0001c0001t0001g0138	3	238	0.0126	29	c.431 others(46): Show c.431-1031_431-1003dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	3/10			chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42504852	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	238	0.0042	29	c.-41 others(40): Show c.-4115_-4087dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding		3622		chr8	TogoVar
SLC22A12_chr11_64586220_64607344	64590317	C C	CCTGAACC others(22): Show CCTGAACCCCACACCCTGCATCAGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0120 a0006c0011t0003g0120	1	390	0.0026	29	c.-12 others(40): Show c.-1240_-1239insCTGAACCCCACACCCTGCATCAGCACACA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding		902		chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2916973	A A	AGAAGGCC others(22): Show AGAAGGCCCAGACAGGGAAGGCGTTAGGAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0031 a0004c0031	a0004c0031t0001 a0004c0031t0001	a0004c0031t0001g0213 a0004c0031t0001g0213	1	405	0.0025	29	c.655 others(44): Show c.655+234_655+235insAAGGCCCAGACAGGGAAGGCGTTAGGAGG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3279509	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0193 a0001c0007t0004g0193	1	222	0.0045	29	c.170 others(48): Show c.1703+4342_1703+4343insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	9/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3304546	A A	ATTGTCAC others(22): Show ATTGTCACTACAAATCCATCTGAAATGGAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	222	0.0045	29	c.108 others(48): Show c.1083-6357_1083-6329dupATCCATTTCAGATGGATTTGTAGTGA CAA	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC22A7_chr6_43293260_43310538	43294457	A A	ACATCACA others(22): Show ACATCACATCACCACCACCATCATTACTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA20300.hp2 HG02886.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	404	0.0050	29	c.-39 others(40): Show c.-3902_-3901insCATCACATCACCACCACCATCATTACTAC	SLC22A7	ENSG00000137204.15	transcript	ENST00000372585.10	protein_coding		3802		chr6	TogoVar
SLC22A7_chr6_43293260_43310538	43294529	T T	TCACCACC others(22): Show TCACCACCACCATCATTACCACCATCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02280.hp2 others(11): Show HG01243.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03579.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0014 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0002g0002 a0001c0002t0002g0003	14	404	0.0347	29	c.-38 others(40): Show c.-3830_-3829insCACCACCACCATCATTACCACCATCACCA	SLC22A7	ENSG00000137204.15	transcript	ENST00000372585.10	protein_coding		3730		chr6	TogoVar
SLC22A7_chr6_43293260_43310538	43294700	G G	GCATCACA others(22): Show GCATCACATCACCACCAGCATCATTACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	404	0.0025	29	c.-36 others(40): Show c.-3659_-3658insCATCACATCACCACCAGCATCATTACCAC	SLC22A7	ENSG00000137204.15	transcript	ENST00000372585.10	protein_coding		3559		chr6	TogoVar
SLC22A9_chr11_63364785_63415294	63410257	A A	AAAAAGAA others(22): Show AAAAAGAAGGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0031 a0001c0002t0041g0031	1	346	0.0029	29	c.39 others(38): Show c.398_*399insAGAAGGAAAGAAAGAAAGAAAGAAAGAAA	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	10/10	399	INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	188	0.0053	29	c.931 others(48): Show c.931-14017_931-14016insGAAAGGAAAAGAAAAGAAAAGAAAAG AAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A4_chr14_92318165_92506481	92448380	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0086 a0001c0003t0086	a0001c0003t0086g0124 a0001c0003t0086g0124	1	282	0.0036	29	c.738 others(44): Show c.738-694_738-693insCACACACACACACACACACACACACACAC	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	9/16			chr14	TogoVar
SLC24A5_chr15_48115990_48147672	48119846	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	29	c.-11 others(40): Show c.-1199_-1198insAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SLC24A5	ENSG00000188467.11	transcript	ENST00000341459.8	protein_coding		1143		chr15	TogoVar

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Search Results (Total: 6085 hits)