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
SLC2A9_chr4_9821224_10026497	9950892	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	336	0.0030	42	c.682 others(59): Show c.682-8848_682-8847insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	5/11			chr4	TogoVar
SLC30A5_chr5_69089014_69136069	69118311	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19087.hp1 NA18963.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0275 a0001c0002t0002g0251 a0001c0002t0001g0275 a0001c0002t0002g0251	2	408	0.0049	42	c.144 others(59): Show c.1440-187_1440-186insGTGTATATATATATATATATATATATGT GTATATATATATAT	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A5_chr5_69089014_69136069	69118311	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02809.hp2 HG03041.hp1 others(6): Show HG02602.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03491.hp1 HG04115.hp2 HG04228.hp2 NA18959.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0002t0001g0021 a0001c0002t0001g0247 a0001c0002t0002g0224 others(5): Show a0001c0002t0001g0021 a0001c0002t0001g0247 a0001c0002t0002g0224 a0001c0002t0002g0280 a0001c0002t0006g0217 a0001c0002t0006g0239 a0001c0002t0006g0240 a0001c0002t0006g0253	9	408	0.0221	42	c.144 others(59): Show c.1440-187_1440-186insGTGTATATATATATATATATATATGTGT ATATATATATATAT	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A5_chr5_69089014_69136069	69118311	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02896.hp1 NA20129.hp2 HG00099.hp1 HG02896.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0018 a0001c0002t0001 a0001c0002t0018	a0001c0002t0001g0258 a0001c0002t0001g0351 a0001c0002t0018g0354 a0001c0002t0001g0258 a0001c0002t0001g0351 a0001c0002t0018g0354	3	408	0.0074	42	c.144 others(59): Show c.1440-187_1440-186insGTGTATATATATATATATATATGTGTAT ATATATATATATAT	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A5_chr5_69089014_69136069	69118311	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	408	0.0025	42	c.144 others(59): Show c.1440-187_1440-186insGTGTATATATATATATATATGTGTATAT ATATATATATATAT	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A6_chr2_32160864_32229379	32215500	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	376	0.0027	42	c.886 others(59): Show c.886-4696_886-4695insATATATATATATATATATATATATATAT ATATATATATATAT	SLC30A6	ENSG00000152683.14	transcript	ENST00000282587.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC30A7_chr1_100891090_100986757	100964334	T T	TATATGTT others(35): Show TATATGTTATATATACATATACATATGTATATGTATATATAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02630.hp2 others(2): Show HG01109.hp1 HG01891.hp1 HG02630.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0037 a0001c0001t0010 a0001c0001t0037	a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0048 others(2): Show a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0010g0049 a0001c0001t0037g0045	5	222	0.0225	42	c.934 others(59): Show c.934-1422_934-1381dupTACATATACATATGTATATGTATATATA ACATATGTTATATA	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35B3_chr6_8406435_8440545	8409469	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG04228.hp2 HG00438.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0010 a0001c0002t0003g0048 a0001c0001t0004g0010 a0001c0002t0003g0048	2	412	0.0049	42	c.40 others(53): Show c.4079_*4080insATATATATATATATATATATATATATATATATAT ATATATAT	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding		1965		chr6	TogoVar
SLC35B3_chr6_8406435_8440545	8440465	T T	TATTTCAA others(35): Show TATTTCAAACGTTACTCTCGCCCTTTGCCATGCTAGCTGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	412	0.0024	42	c.-52 others(53): Show c.-5217_-5216insGACCCAGCTAGCATGGCAAAGGGCGAGAGTAACG TTTGAAAT	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding		4921		chr6	TogoVar
SLC35D1_chr1_66994350_67059148	67013157	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03017.hp1 NA18967.hp1 others(4): Show HG01074.hp2 HG03017.hp1 NA18967.hp1 NA18975.hp2 NA18991.hp1 NA19003.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0030 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0030 a0001c0001t0032	a0001c0001t0004g0277 a0001c0001t0005g0011 a0001c0001t0005g0139 others(3): Show a0001c0001t0004g0277 a0001c0001t0005g0011 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0030g0188 a0001c0001t0032g0129	7	310	0.0226	42	c.877 others(59): Show c.877-3991_877-3990insATATATATATATATATATATATATATAT ATATATATATATAT	SLC35D1	ENSG00000116704.8	transcript	ENST00000235345.6	protein_coding	10/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	118273005	T T	TTTAACAT others(35): Show TTTAACATATAGGTTTAATGTATAGGTTTAACATATAGGTTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 NA18906.hp1 others(1): Show HG02145.hp1 HG02572.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0106 a0001c0001t0006g0119 a0001c0001t0006g0121 others(1): Show a0001c0001t0006g0106 a0001c0001t0006g0119 a0001c0001t0006g0121 a0001c0001t0015g0175	4	182	0.0220	42	c.638 others(59): Show c.638-2454_638-2453insTTAACATATAGGTTTAATGTATAGGTTT AACATATAGGTTTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	4/7			chr6	TogoVar
SLC35F3_chr1_233899676_234329511	233904439	T T	TAGAGAGA others(35): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	158	0.0063	42	c.-63 others(51): Show c.-639_-638insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding		236		chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234146505	T T	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	158	0.0063	42	c.284 others(61): Show c.284-84912_284-84911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234326099	A A	AGGAGGAT others(35): Show AGGAGGATGGAGGATGGAGGATGGAGGATGGAGGATGGAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0119 a0001c0002t0005g0119	1	158	0.0063	42	c.28 others(53): Show c.2856_*2857insGGAGGATGGAGGATGGAGGATGGAGGATGGAGGA TGGAGGAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding		1589		chr1	TogoVar
SLC37A3_chr7_140328752_140403530	140361487	G G	GCCTCTCC others(35): Show GCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	346	0.0029	42	c.376 others(59): Show c.376-2703_376-2702insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGG	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22423786	T T	TTCTCTCT others(35): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02300.hp2 HG02622.hp2 others(2): Show HG01106.hp2 HG02300.hp2 HG02622.hp2 HG04199.hp2 NA19006.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0001 a0001c0004t0001 a0003c0001t0001	a0001c0004t0001g0009 a0003c0001t0001g0084 a0003c0001t0001g0132 others(2): Show a0001c0004t0001g0009 a0003c0001t0001g0084 a0003c0001t0001g0132 a0003c0001t0001g0139 a0003c0001t0001g0184	5	324	0.0154	42	c.40 others(53): Show c.4088_*4089insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding		1051		chr8	TogoVar
SLC39A7_chr6_33195867_33209437	33206632	T T	TCCCAGGA others(35): Show TCCCAGGAGGTCTTTAACACACACAATCATGAGTTACTTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	395	0.0025	42	c.28 others(53): Show c.2819_*2820insCCCAGGAGGTCTTTAACACACACAATCATGAGTT ACTTGCAC	SLC39A7	ENSG00000112473.19	transcript	ENST00000374677.8	protein_coding		2196		chr6	TogoVar
SLC40A1_chr2_189555590_189585786	189569958	G G	GTGTATAT others(35): Show GTGTATATATATGTATGTATATATATACACACCTATATATGTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	346	0.0029	42	c.514 others(59): Show c.514+1715_514+1756dupTACATATATAGGTGTGTATATATATACA TACATATATATACA	SLC40A1	ENSG00000138449.11	transcript	ENST00000261024.7	protein_coding	5/7			chr2	TogoVar
SLC43A3_chr11_57401954_57432121	57403435	A A	AAAGAAGA others(35): Show AAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	330	0.0030	42	c.43 others(53): Show c.4356_*4357insCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC TTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3518		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG03209.hp2 HG03927.hp2 HG01261.hp2 HG03209.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0012g0040 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0012g0040	3	330	0.0091	42	c.43 others(53): Show c.4321_*4322insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	330	0.0030	42	c.43 others(53): Show c.4321_*4322insCTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(35): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01496.hp1 HG03041.hp1 others(2): Show HG01070.hp2 HG01496.hp1 HG03041.hp1 HG03688.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0008 a0001c0001t0002g0167 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0008 a0001c0001t0002g0167 a0001c0001t0003g0002	5	330	0.0152	42	c.42 others(53): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403553	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0181	1	330	0.0030	42	c.42 others(53): Show c.4238_*4239insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3400		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403553	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	42	c.42 others(53): Show c.4238_*4239insCTCTTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3400		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403553	A A	AGAAGAGG others(35): Show AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	330	0.0030	42	c.42 others(53): Show c.4238_*4239insCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCT TCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3400		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA19011.hp2 HG01255.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0193 a0001c0001t0001g0004 a0001c0001t0002g0193	2	330	0.0061	42	c.42 others(53): Show c.4229_*4230insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	42	c.42 others(53): Show c.4229_*4230insCTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403568	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	42	c.42 others(53): Show c.4223_*4224insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3385		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403571	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	330	0.0030	42	c.42 others(53): Show c.4220_*4221insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3382		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403571	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	330	0.0030	42	c.42 others(53): Show c.4220_*4221insCTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3382		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403571	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0163 a0001c0004t0008g0163	1	330	0.0030	42	c.42 others(53): Show c.4220_*4221insCTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCT TCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3382		chr11	TogoVar
SLC44A5_chr1_75197129_75616114	75345197	C C	CACCAACA others(35): Show CACCAACACTAATTCAGTATCTGATTGTAATGTCAAGGCAAGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp2 HG03195.hp2 others(1): Show HG01255.hp1 HG02717.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0104 a0001c0007t0002g0107 a0001c0007t0002g0129 others(1): Show a0001c0007t0002g0104 a0001c0007t0002g0107 a0001c0007t0002g0129 a0001c0007t0002g0132	4	156	0.0256	42	c.53- others(57): Show c.53-5609_53-5568dupACTTGCCTTGACATTACAATCAGATACTGA ATTAGTGTTGGT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	3/23			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203244	A A	AGAGGGAG others(35): Show AGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0001 a0007c0027t0001	a0007c0027t0001g0155 a0007c0027t0001g0155	1	188	0.0053	42	c.83 others(53): Show c.8327_*8328insCACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGG TCTCCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3929		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203366	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	188	0.0053	42	c.82 others(53): Show c.8205_*8206insCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTC TCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3807		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203465	A A	AGAGAGGG others(35): Show AGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01952.hp2 HG02040.hp1 others(1): Show HG00544.hp1 HG01952.hp2 HG02040.hp1 NA18948.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0022 a0001c0030 others(1): Show a0001c0003 a0001c0022 a0001c0030 a0003c0002	a0001c0003t0001 a0001c0022t0001 a0001c0030t0003 others(1): Show a0001c0003t0001 a0001c0022t0001 a0001c0030t0003 a0003c0002t0040	a0001c0003t0001g0065 a0001c0022t0001g0077 a0001c0030t0003g0173 others(1): Show a0001c0003t0001g0065 a0001c0022t0001g0077 a0001c0030t0003g0173 a0003c0002t0040g0170	4	188	0.0213	42	c.81 others(53): Show c.8106_*8107insCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTC TCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3708		chr8	TogoVar
SLC4A2_chr7_151054589_151081523	151073974	C C	CTAATTTG others(35): Show CTAATTTGATAACCTGACATCAGGATTTTTGGAGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	406	0.0025	42	c.253 others(57): Show c.2536-65_2536-64insTAATTTGATAACCTGACATCAGGATTTTTG GAGGAGGAGGGG	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	16/22			chr7	TogoVar
SLC4A4_chr4_71182259_71577083	71376579	T T	TATATATA others(35): Show TATATATATATTTAAAATATATATATGTTTAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	152	0.0066	42	c.730 others(61): Show c.730+19400_730+19401insATTTAAAATATATATATGTTTAAAAT ATATATACATATATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71376579	T T	TATATATA others(35): Show TATATATATATTTAAAATATATATATGTTTAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	234	0.0043	42	c.598 others(61): Show c.598+19400_598+19401insATTTAAAATATATATATGTTTAAAAT ATATATACATATATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC5A12_chr11_26662020_26727060	26669160	C C	CCTTTTTC others(35): Show CCTTTTTCTTTCTTTCTTTCTTCTTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG01071.hp2 others(9): Show HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01978.hp2 HG02109.hp1 HG02129.hp2 HG02280.hp2 HG02717.hp2 HG03209.hp1 HG03831.hp1 HG03831.hp2 NA19058.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0003 a0001c0004 a0001c0006 others(5): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0003c0008 a0006c0035 a0007c0036	a0001c0003t0026 a0001c0003t0111 a0001c0004t0131 others(7): Show a0001c0003t0026 a0001c0003t0111 a0001c0004t0131 a0001c0006t0042 a0001c0006t0093 a0001c0007t0139 a0001c0009t0026 a0003c0008t0067 a0006c0035t0122 a0007c0036t0130	a0001c0003t0026g0140 a0001c0003t0026g0141 a0001c0003t0111g0102 others(9): Show a0001c0003t0026g0140 a0001c0003t0026g0141 a0001c0003t0111g0102 a0001c0004t0131g0330 a0001c0006t0042g0218 a0001c0006t0042g0221 a0001c0006t0093g0233 a0001c0007t0139g0361 a0001c0009t0026g0220 a0003c0008t0067g0035 a0006c0035t0122g0322 a0007c0036t0130g0323	12	412	0.0291	42	c.19 others(53): Show c.1941_*1942insAAAGAAAGAAAGAAAGAAAAGAAGAAAGAAAGAA AGAAAAAG	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1941		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(35): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0110 a0001c0003t0110	a0001c0003t0110g0081 a0001c0003t0110g0081	1	412	0.0024	42	c.19 others(53): Show c.1914_*1915insGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(35): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG02896.hp2 others(5): Show HG01496.hp2 HG02559.hp1 HG02896.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 NA18963.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0014	a0001c0001t0116 a0001c0004t0029 a0001c0005t0035 others(1): Show a0001c0001t0116 a0001c0004t0029 a0001c0005t0035 a0001c0014t0146	a0001c0001t0116g0296 a0001c0004t0029g0317 a0001c0004t0029g0318 others(4): Show a0001c0001t0116g0296 a0001c0004t0029g0317 a0001c0004t0029g0318 a0001c0004t0029g0320 a0001c0005t0035g0009 a0001c0005t0035g0072 a0001c0014t0146g0354	8	412	0.0194	42	c.19 others(53): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26669205	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02922.hp1 HG01109.hp2 HG02922.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0065 a0001c0012t0065	a0001c0012t0065g0030 a0001c0012t0065g0030	2	412	0.0049	42	c.18 others(53): Show c.1896_*1897insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1896		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680306	T T	TATATATA others(35): Show TATATATATGTATATATATTCATATATATATGTATATATATTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04204.hp1 NA18989.hp1 HG04115.hp1 HG04204.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0054 a0001c0001t0002 a0001c0001t0032 a0001c0001t0054	a0001c0001t0002g0241 a0001c0001t0032g0288 a0001c0001t0054g0216 a0001c0001t0002g0241 a0001c0001t0032g0288 a0001c0001t0054g0216	3	412	0.0073	42	c.147 others(59): Show c.1475+748_1475+749insGAATATATATACATATATATATGAATAT ATATACATATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32213625	C C	CATATATG others(35): Show CATATATGTATACATATATATCTATACATATATGTATATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01515.hp1 HG01517.hp1 HG01256.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0203 a0001c0001t0001g0021 a0001c0001t0001g0203	3	302	0.0099	42	c.48 others(53): Show c.4888_*4889insAGATATATACATATATGTATAGATATATATGTAT ACATATAT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4838		chr22	TogoVar
SLC6A13_chr12_215622_267836	239075	C C	CGTCCACC others(35): Show CGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG01074.hp2 others(26): Show HG00280.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01243.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02602.hp2 HG03041.hp1 HG03540.hp1 HG06807.hp1 NA18941.hp1 NA18947.hp2 NA18949.hp2 NA18981.hp2 NA18998.hp1 NA19004.hp1 NA19030.hp1 NA19058.hp2 NA19065.hp1 NA19074.hp2 NA19083.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0015 others(3): Show a0001c0001 a0001c0002 a0001c0015 a0002c0007 a0003c0004 a0006c0016	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0002c0007t0001 a0003c0004t0003 a0006c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0298 a0001c0015t0001g0296 a0002c0007t0001g0173 a0003c0004t0003g0035 a0006c0016t0001g0034	29	442	0.0656	42	c.479 others(59): Show c.479-1066_479-1065insATGGTAGAGCAGGTGGCTGAAGGGGCAG GGAACAGGGTGGAC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239249	T T	TTCCCTCA others(35): Show TTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02300.hp2 HG02735.hp2 HG01928.hp1 HG02300.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0281 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0281	3	442	0.0068	42	c.479 others(59): Show c.479-1240_479-1239insGCAGGGAACAGGGTGGACGTGGTAGAGC ATGTGGCTGAGGGA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC7A1_chr13_29504414_29600688	29558330	A A	AGGGGGGA others(35): Show AGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02896.hp2 others(1): Show HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0025 a0001c0001t0001 a0001c0011t0025	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0011t0025g0113 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0011t0025g0113 a0001c0011t0025g0114	4	330	0.0121	42	c.-11 others(61): Show c.-114-4471_-114-4470insCTCATTCAGATTCACTCCCCCTCACT CACATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558411	A A	AGGGGGGA others(35): Show AGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	330	0.0030	42	c.-11 others(61): Show c.-114-4552_-114-4551insCTCATTCAGATTCACTCCCCCTCACT CACATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559411	A A	AGGGGGGA others(35): Show AGGGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGTGAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0042 a0003c0018t0042	a0003c0018t0042g0248 a0003c0018t0042g0248	1	330	0.0030	42	c.-11 others(61): Show c.-114-5552_-114-5551insCTCACTCACATTCACTCCCCGTCACT CACATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(35): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0267 a0001c0001t0010g0267	1	390	0.0026	42	c.-34 others(53): Show c.-3496_-3495insGAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar

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Search Results (Total: 5093 hits)