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
SLC6A6_chr3_14397606_14494349	14436531	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01099.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0098 a0001c0001t0041g0089 a0001c0001t0002g0098 a0001c0001t0041g0089	2	376	0.0053	-21	c.-11 others(38): Show c.-11-7063_-11-7043delTTTTTTTTTTTTTTTTTTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A9_chr1_43991483_44036462	44022706	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0311 a0001c0001t0004g0030 a0001c0001t0002g0311 a0001c0001t0004g0030	2	388	0.0052	-21	c.30+ others(36): Show c.30+1521_30+1541delAAAAAGAAAGAAAGAAAGAAA	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding	2/13			chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558810	AGGCAGAG others(14): Show AGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp1 NA18906.hp1 others(1): Show HG02015.hp2 HG02523.hp1 NA18906.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0001t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0064 a0001c0002t0002g0154 a0001c0002t0002g0159 others(1): Show a0001c0001t0001g0064 a0001c0002t0002g0154 a0001c0002t0002g0159 a0001c0002t0004g0149	4	330	0.0121	-21	c.-11 others(40): Show c.-114-4971_-114-4951delCTCATTCAGATTCACTCTGCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558951	AGGCAGAG others(14): Show AGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0290 a0001c0002t0004g0290	1	330	0.0030	-21	c.-11 others(40): Show c.-114-5112_-114-5092delCTCATTCAGATTCACTCTGCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559069	AGGCAGAG others(14): Show AGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03130.hp1 NA18941.hp1 others(1): Show HG02148.hp2 HG03130.hp1 NA18941.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0004 a0001c0002t0007 a0002c0007t0016 a0001c0002t0004 a0001c0002t0007 a0002c0007t0016	a0001c0002t0004g0228 a0001c0002t0007g0016 a0002c0007t0016g0005 a0001c0002t0004g0228 a0001c0002t0007g0016 a0002c0007t0016g0005	4	330	0.0121	-21	c.-11 others(40): Show c.-114-5230_-114-5210delCTCATTCAGATTCACTCTGCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559110	AGGGGGAG others(14): Show AGGGGGAGTGAATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	330	0.0030	-21	c.-11 others(40): Show c.-114-5271_-114-5251delCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559230	ACGGGGAG others(14): Show ACGGGGAGTGAATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0172 a0001c0008t0006g0172	1	330	0.0030	-21	c.-11 others(40): Show c.-114-5391_-114-5371delCTCACTCACATTCACTCCCCG	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559420	GAATGTGA others(14): Show GAATGTGAGTGAGGGGGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	330	0.0030	-21	c.-11 others(40): Show c.-114-5581_-114-5561delTCACTCCCCCTCACTCACATT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559451	AGGGGGAG others(14): Show AGGGGGAGTGAATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01175.hp2 others(26): Show HG00438.hp1 HG00597.hp1 HG01175.hp2 HG01257.hp2 HG01928.hp1 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG04115.hp1 NA18906.hp2 NA18950.hp1 NA18981.hp2 NA18985.hp2 NA18995.hp1 NA19001.hp1 NA19054.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0028 a0001c0001t0030 a0001c0002t0002 a0001c0002t0004 a0001c0002t0019 a0001c0002t0034 a0001c0010t0023 a0001c0020t0005	a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0218 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0218 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0008g0053 a0001c0001t0012g0193 a0001c0001t0018g0297 a0001c0001t0020g0037 a0001c0001t0028g0055 a0001c0001t0030g0056 a0001c0002t0002g0174 a0001c0002t0002g0185 a0001c0002t0004g0137 a0001c0002t0004g0139 a0001c0002t0004g0141 a0001c0002t0004g0149 a0001c0002t0004g0153 a0001c0002t0004g0161 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0314 a0001c0002t0019g0017 a0001c0002t0019g0019 a0001c0002t0034g0061 a0001c0010t0023g0049 a0001c0010t0023g0050 a0001c0020t0005g0312	29	330	0.0879	-21	c.-11 others(40): Show c.-114-5612_-114-5592delCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559471	AGGGGGGA others(14): Show AGGGGGGAGTGAATGTGAGTGA	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG03139.hp1 HG02257.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0002	3	330	0.0091	-21	c.-11 others(40): Show c.-114-5632_-114-5612delTCACTCACATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A3_chrX_70920579_70936096	70921451	TGAATTCT others(14): Show TGAATTCTCATGATACTTCATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0043 a0009c0013t0004g0043	1	312	0.0032	-21	c.43 others(32): Show c.4341_*4361delCATGAAGTATCATGAGAATTC	SLC7A3	ENSG00000165349.12	transcript	ENST00000374299.8	protein_coding		4127		chrX	TogoVar
SLC7A5_chr16_87825023_87874507	87846138	GGCCCAGG others(14): Show GGCCCAGGTTGTCCGGAGTGGA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	390	0.0026	-21	c.665 others(38): Show c.665-5004_665-4984delTCCACTCCGGACAACCTGGGC	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	2/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87861565	GGCCAAGA others(14): Show GGCCAAGAGGTGGCCAAGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	390	0.0026	-21	c.538 others(38): Show c.538+7299_538+7319delACCTCTTGGCCACCTCTTGGC	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872053	CCGGAGTA others(14): Show CCGGAGTAGCTGGGATTACAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0189 a0001c0001t0038g0189	1	390	0.0026	-21	c.-26 others(32): Show c.-2652_-2632delCCTGTAATCCCAGCTACTCCG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		2547		chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68260624	GGGCTGAG others(14): Show GGGCTGAGGATGGGGCTCCTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02886.hp2 others(1): Show HG02572.hp2 HG02717.hp1 HG02886.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0026 a0002c0002t0005g0027 a0002c0002t0005g0006 a0002c0002t0005g0026 a0002c0002t0005g0027	4	282	0.0142	-21	c.-41 others(32): Show c.-4117_-4097delGGCTGAGGATGGGGCTCCTAT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding		3901		chr16	TogoVar
SLC8B1_chr12_113293771_113340109	113306174	GTCTTCCA others(14): Show GTCTTCCATAGGACACATAAGC	G G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	284	0.0035	-21	c.149 others(38): Show c.1492+300_1492+320delGCTTATGTGTCCTATGGAAGA	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	14/15			chr12	TogoVar
SLC8B1_chr12_113293771_113340109	113307110	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02615.hp2 HG02630.hp2 HG02165.hp2 HG02615.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0121 a0001c0001t0004g0151 a0001c0001t0006g0048 a0001c0001t0001g0121 a0001c0001t0004g0151 a0001c0001t0006g0048	3	284	0.0106	-21	c.141 others(38): Show c.1412-556_1412-536delTTTTTTTTTTTTTTTTTTTTT	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	13/15			chr12	TogoVar
SLC9A1_chr1_27093809_27160125	27134207	GCAGACTC others(14): Show GCAGACTCCTGGGGTTCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	234	0.0043	-21	c.352 others(40): Show c.352+19755_352+19775delTTTCTGAACCCCAGGAGTCTG	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A7_chrX_46594251_46764118	46612947	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	250	0.0040	-21	c.192 others(38): Show c.1929+321_1929+341delCTCTTTTTTTTTTTTTTTTTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	16/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46738088	AAAGAAAG others(14): Show AAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02273.hp2 HG00323.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0225 a0001c0002t0002g0214 a0001c0002t0002g0225	2	250	0.0080	-21	c.325 others(40): Show c.325+20596_325+20616delCTCTTTCTTTCTTTCTTTCTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A9_chr3_143260222_143853468	143317310	AGCTCCTG others(14): Show AGCTCCTGCCCGAGGAGCTACT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0058 a0001c0001t0007g0058	1	108	0.0093	-21	c.160 others(42): Show c.1604+46153_1604+46173delAGTAGCTCCTCGGGCAGGAGC	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	14/15			chr3	TogoVar
SLC9B2_chr4_103017253_103081761	103059980	TTTTCTGG others(14): Show TTTTCTGGTTTTGAAGAGCCTG	T T	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	356	0.0028	-21	c.272 others(38): Show c.272-2030_272-2010delCAGGCTCTTCAAAACCAGAAA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	3/11			chr4	TogoVar
SLCO1C1_chr12_20690332_20758386	20717648	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00735.hp1 others(10): Show HG00280.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01884.hp2 HG01981.hp2 HG02055.hp1 HG02155.hp2 HG03098.hp1 HG03130.hp2 HG03654.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0020 a0002c0007	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0006 a0001c0020t0009 a0002c0007t0001 a0002c0007t0004	a0001c0001t0001g0048 a0001c0002t0002g0001 a0001c0002t0002g0077 others(8): Show a0001c0001t0001g0048 a0001c0002t0002g0001 a0001c0002t0002g0077 a0001c0003t0001g0099 a0001c0003t0001g0167 a0001c0003t0001g0170 a0001c0005t0006g0169 a0001c0020t0009g0016 a0002c0007t0001g0062 a0002c0007t0001g0260 a0002c0007t0004g0006	13	296	0.0439	-21	c.775 others(36): Show c.775+442_775+462delTTTTTTTTTTTTTTTTTTTTT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20718866	TATCTTGC others(14): Show TATCTTGCTCCAAAATGCACTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0169 a0001c0005t0006g0169	1	296	0.0034	-21	c.775 others(38): Show c.775+1637_775+1657delATCTTGCTCCAAAATGCACTC	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14			chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	92016233	ATAGATAG others(14): Show ATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02300.hp1 HG02965.hp2 others(1): Show HG01346.hp2 HG02300.hp1 HG02965.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0001t0046 a0001c0002t0002 a0001c0001t0025 a0001c0001t0046 a0001c0002t0002	a0001c0001t0025g0125 a0001c0001t0046g0030 a0001c0002t0002g0047 others(1): Show a0001c0001t0025g0125 a0001c0001t0046g0030 a0001c0002t0002g0047 a0001c0002t0002g0050	4	190	0.0211	-21	c.647 others(40): Show c.647-78626_647-78606delTAGATAGATAGATAGATAGAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92029656	CCCCTCCT others(14): Show CCCCTCCTTGTATTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0095 a0001c0004t0004g0095	1	190	0.0053	-21	c.647 others(40): Show c.647-65221_647-65201delTCCTTGTATTTTTTTTTTCCC	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92167067	CTATATTT others(14): Show CTATATTTTATTGTTGCTTGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0077 a0001c0001t0018g0077	1	190	0.0053	-21	c.39 others(32): Show c.3933_*3953delTATATTTTATTGTTGCTTGAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding		1165		chr15	TogoVar
SLCO5A1_chr8_69662046_69839978	69762178	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19012.hp1 NA18959.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0056 a0002c0002t0005g0092 a0002c0002t0002g0056 a0002c0002t0005g0092	2	280	0.0071	-21	c.908 others(36): Show c.908-324_908-304delAGAAAGAAAGAAAGAAAGAAA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO6A1_chr5_102366774_102504001	102460921	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19054.hp2 NA18940.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	342	0.0059	-21	c.900 others(38): Show c.900-1165_900-1145delTATATATATATATATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	4/13			chr5	TogoVar
SLF2_chr10_100907963_100970134	100951273	ATGTTAAT others(14): Show ATGTTAATTCTGTTTGTTGGAG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0308 a0002c0002t0001g0308	1	330	0.0030	-21	c.333 others(38): Show c.3330+523_3330+543delTTAATTCTGTTTGTTGGAGTG	SLF2	ENSG00000119906.13	transcript	ENST00000238961.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLFN12L_chr17_35459254_35542678	35469301	TAAAATAT others(14): Show TAAAATATATATATATTATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0290 a0001c0001t0132g0290	1	360	0.0028	-21	c.56 others(32): Show c.5601_*5621delTATATAATATATATATATTTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	5/5	5601		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530422	GAAGGAAG others(14): Show GAAGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0079 a0001c0001t0023g0079	1	360	0.0028	-21	c.-60 others(40): Show c.-606+7130_-606+7150delTTCCCTTCCCTTCCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530434	GGGAAGGG others(14): Show GGGAAGGGAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0339 a0001c0002t0070g0339	1	360	0.0028	-21	c.-60 others(40): Show c.-606+7118_-606+7138delTTTCTTTCTTTCTTCCCTTCC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLIT2_chr4_20246905_20625561	20291492	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02155.hp2 HG01256.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0057 a0001c0001t0005g0004 a0001c0001t0005g0057	2	230	0.0087	-21	c.395 others(40): Show c.395+22622_395+22642delTTTTTTTTTTTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20305872	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	230	0.0044	-21	c.395 others(40): Show c.395+37022_395+37042delAATAATAATAATAATAATAAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168907925	TTATATAT others(14): Show TTATATATATATTATACGTGTA	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0009 a0001c0058t0009	a0001c0058t0009g0097 a0001c0058t0009g0097	1	132	0.0076	-21	c.414 others(40): Show c.414-24610_414-24590delTACACGTATAATATATATATA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK6_chr13_85787790_85804419	85799057	ATAGCTTC others(14): Show ATAGCTTCATAAAGTTAAAACC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0064 a0001c0001t0022g0064	1	432	0.0023	-21	c.-18 others(30): Show c.-189_-169delGGTTTTAACTTTATGAAGCTA	SLITRK6	ENSG00000184564.11	transcript	ENST00000647374.2	protein_coding	1/2	2550		chr13	TogoVar
SLURP2_chr8_142759338_142774828	142771252	GTTAGGGT others(14): Show GTTAGGGTAAGGGTTAGGGCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	446	0.0022	-21	c.-14 others(32): Show c.-1467_-1447delTTGCCCTAACCCTTACCCTAA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		1425		chr8	TogoVar
SLX4IP_chr20_10430305_10633030	10616386	AAAATGAA others(14): Show AAAATGAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp1 NA18982.hp1 others(7): Show HG02040.hp1 HG02074.hp1 NA18982.hp1 NA18986.hp1 NA18994.hp1 NA19012.hp2 NA19056.hp1 NA19068.hp1 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0045 a0001c0001t0002 a0001c0001t0043 a0001c0001t0045	a0001c0001t0002g0007 a0001c0001t0002g0117 a0001c0001t0002g0118 others(7): Show a0001c0001t0002g0007 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0176 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0043g0103 a0001c0001t0045g0085	10	266	0.0376	-21	c.406 others(38): Show c.406-4923_406-4903delGAAATAAATAAATAAATAAAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD6_chr15_66697236_66787849	66703030	GACTGCGG others(14): Show GACTGCGGCTCGGCGTGCGCGT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0175 a0001c0001t0017g0175	1	336	0.0030	-21	c.-22 others(30): Show c.-228_-208delACTGCGGCTCGGCGTGCGCGT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	1/4	208		chr15	TogoVar
SMAD7_chr18_48914853_48955965	48936096	ACACACAC others(14): Show ACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0325 a0001c0001t0014g0325	1	398	0.0025	-21	c.742 others(38): Show c.742+6364_742+6384delGTGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAP1_chr6_70662883_70867003	70725093	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	306	0.0033	-21	c.119 others(38): Show c.119-7264_119-7244delTTTTTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCAL1_chr2_216407484_216488053	216411392	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	408	0.0025	-21	c.-13 others(32): Show c.-1351_-1331delAAAAAAAAAAAAAAAAAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding		1091		chr2	TogoVar
SMARCC2_chr12_56157359_56194483	56178669	GAAAGGGT others(14): Show GAAAGGGTCAGAGTTTTGAACA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	250	0.0040	-21	c.117 others(38): Show c.1179+120_1180-136delTGTTCAAAACTCTGACCCTTT	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	13/28			chr12	TogoVar
SMC5_chr9_70253978_70359873	70359065	AATTATTA others(14): Show AATTATTATTATTATTATTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02970.hp1 others(2): Show HG01891.hp2 HG02615.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp1	a0002 a0015 a0002 a0015	a0002c0009 a0002c0013 a0015c0020 a0002c0009 a0002c0013 a0015c0020	a0002c0009t0006 a0002c0009t0014 a0002c0013t0006 others(1): Show a0002c0009t0006 a0002c0009t0014 a0002c0013t0006 a0015c0020t0006	a0002c0009t0006g0095 a0002c0009t0006g0098 a0002c0009t0014g0097 others(2): Show a0002c0009t0006g0095 a0002c0009t0006g0098 a0002c0009t0014g0097 a0002c0013t0006g0099 a0015c0020t0006g0096	5	366	0.0137	-21	c.67 others(32): Show c.6735_*6755delATTATTATTATTATTATTATT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding		4193		chr9	TogoVar
SMCO1_chr3_196501879_196520346	196515983	GATAGGAT others(14): Show GATAGGATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02486.hp1 HG02602.hp2 others(13): Show HG02132.hp2 HG02486.hp1 HG02602.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 NA18950.hp1 NA18975.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19030.hp2 NA19060.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0005c0005t0004 a0001c0001t0001 a0001c0001t0002 a0005c0005t0004	a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0002g0004 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0139 a0005c0005t0004g0024 a0005c0005t0004g0047 a0005c0005t0004g0049 a0005c0005t0004g0050 a0005c0005t0004g0051 a0005c0005t0004g0052 a0005c0005t0004g0053	16	398	0.0402	-21	c.-79 others(30): Show c.-795_-775delATATATATATATATATCCTAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		638		chr3	TogoVar
SMCO2_chr12_27441736_27507185	27500487	CAAATTAT others(14): Show CAAATTATCTTTGCTTTAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00733.hp2 others(75): Show HG00544.hp1 HG00558.hp2 HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02886.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2 NA21309.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0002 a0003c0009 a0004c0011 others(1): Show a0003c0002 a0003c0009 a0004c0011 a0006c0013	a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 others(7): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0009t0001 a0003c0009t0003 a0003c0009t0004 a0004c0011t0001 a0004c0011t0002 a0006c0013t0001 a0006c0013t0002	a0003c0002t0001g0249 a0003c0002t0002g0001 a0003c0002t0002g0003 others(65): Show a0003c0002t0001g0249 a0003c0002t0002g0001 a0003c0002t0002g0003 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0053 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0078 a0003c0002t0002g0088 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0002g0091 a0003c0002t0002g0092 a0003c0002t0002g0093 a0003c0002t0002g0094 a0003c0002t0002g0095 a0003c0002t0002g0096 a0003c0002t0002g0097 a0003c0002t0002g0098 a0003c0002t0002g0099 a0003c0002t0002g0101 a0003c0002t0002g0102 a0003c0002t0002g0103 a0003c0002t0002g0104 a0003c0002t0002g0105 a0003c0002t0002g0106 a0003c0002t0002g0107 a0003c0002t0002g0108 a0003c0002t0002g0109 a0003c0002t0002g0111 a0003c0002t0002g0112 a0003c0002t0002g0113 a0003c0002t0002g0114 a0003c0002t0002g0115 a0003c0002t0002g0116 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0119 a0003c0002t0002g0123 a0003c0002t0002g0124 a0003c0002t0002g0125 a0003c0002t0002g0126 a0003c0002t0002g0127 a0003c0002t0002g0128 a0003c0002t0002g0129 a0003c0002t0002g0136 a0003c0002t0002g0141 a0003c0002t0004g0195 a0003c0002t0004g0202 a0003c0002t0004g0203 a0003c0009t0001g0207 a0003c0009t0001g0253 a0003c0009t0003g0134 a0003c0009t0003g0144 a0003c0009t0004g0172 a0004c0011t0001g0274 a0004c0011t0002g0017 a0004c0011t0002g0328 a0006c0013t0001g0323 a0006c0013t0002g0330	78	360	0.2167	-21	c.834 others(38): Show c.834-1434_834-1414delAATTATCTTTGCTTTAGAAAA	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 HG03579.hp1 others(1): Show HG03225.hp2 HG03471.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0297 a0001c0003t0009g0298 a0001c0003t0009g0299 others(1): Show a0001c0003t0009g0297 a0001c0003t0009g0298 a0001c0003t0009g0299 a0001c0003t0009g0300	4	300	0.0133	-21	c.822 others(38): Show c.822+1589_822+1609delTTTTTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2230201	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01358.hp2 HG01496.hp2 others(22): Show HG00609.hp2 HG01358.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG02273.hp1 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG03516.hp1 HG03831.hp2 NA18943.hp1 NA18948.hp1 NA18961.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA19062.hp2 NA19063.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0014	a0001c0001 a0003c0003 a0005c0006 others(1): Show a0001c0001 a0003c0003 a0005c0006 a0014c0018	a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0005c0006t0004 a0014c0018t0001	a0001c0001t0001g0273 a0001c0001t0006g0131 a0001c0001t0006g0132 others(22): Show a0001c0001t0001g0273 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0151 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0165 a0003c0003t0001g0226 a0003c0003t0002g0143 a0003c0003t0002g0177 a0003c0003t0005g0176 a0005c0006t0004g0060 a0014c0018t0001g0137	25	278	0.0899	-21	c.286 others(40): Show c.2869+6270_2869+6290delCTTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMIM10_chrX_134985991_134997473	134986626	ATTTATTT others(14): Show ATTTATTTATTTATTTTCTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	322	0.0031	-21	c.-44 others(32): Show c.-4469_-4449delTTTATTTATTTATTTTCTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4364		chrX	TogoVar

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Search Results (Total: 6287 hits)