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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01361.hp1 HG01361.hp2 others(16): Show HG00323.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02630.hp1 HG04115.hp1 HG04204.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18983.hp2 NA19011.hp1 NA19074.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0011g0095 a0001c0001t0011g0135	19	330	0.0576	30	c.43 others(41): Show c.4321_*4322insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	30	c.43 others(41): Show c.4321_*4322insCTCTTCTTCCTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAGGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	330	0.0030	30	c.43 others(41): Show c.4321_*4322insCTCTTCTTCTTCTTCTTCCTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	330	0.0030	30	c.42 others(41): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403541	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	330	0.0030	30	c.42 others(41): Show c.4250_*4251insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3412		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403559	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0057	1	330	0.0030	30	c.42 others(41): Show c.4232_*4233insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3394		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403568	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG04115.hp1 HG02683.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0087 a0001c0001t0001g0031 a0001c0001t0001g0087	2	330	0.0061	30	c.42 others(41): Show c.4223_*4224insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3385		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403571	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	330	0.0030	30	c.42 others(41): Show c.4220_*4221insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3382		chr11	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	142	0.0070	30	c.195 others(49): Show c.1950+1559_1950+1560insAAAAAAAAAATATATATATATATATA TATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A5_chr1_75197129_75616114	75445516	A A	AATATATG others(23): Show AATATATGTATATATTACGTAATATATACAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG00733.hp2 others(45): Show HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp1 NA19005.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0010 a0001c0004t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0008t0001 a0001c0009t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0003g0024 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0002t0002g0077 a0001c0002t0002g0085 a0001c0002t0002g0105 a0001c0002t0002g0134 a0001c0002t0002g0147 a0001c0002t0002g0152 a0001c0002t0004g0013 a0001c0002t0004g0082 a0001c0003t0001g0061 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0113 a0001c0003t0001g0117 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0010g0114 a0001c0004t0001g0023 a0001c0004t0001g0145 a0001c0005t0005g0081 a0001c0005t0005g0154 a0001c0005t0005g0155 a0001c0005t0007g0131 a0001c0006t0001g0143 a0001c0006t0002g0089 a0001c0006t0002g0095 a0001c0007t0002g0065 a0001c0007t0002g0129 a0001c0007t0002g0132 a0001c0008t0001g0137 a0001c0009t0002g0009	48	156	0.3077	30	c.14- others(47): Show c.14-48925_14-48896dupATGTATATATTACGTAATATATACATAT AT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC45A2_chr5_33939623_33989693	33969065	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	440	0.0023	30	c.563 others(47): Show c.563-5050_563-5049insCACACACACACACACAGAGAGAGAGAGA GA	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A2_chr5_33939623_33989693	33986185	A A	AAATATAG others(23): Show AAATATAGACATTCTATTTTTTACTACAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	440	0.0023	30	c.-16 others(41): Show c.-1632_-1603dupACTTGTAGTAAAAAATAGAATGTCTATATT	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding		1493		chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203407	G G	GAGACCGT others(23): Show GAGACCGTGGAGAGAGGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18973.hp1 NA18975.hp2 others(2): Show HG02155.hp2 NA18973.hp1 NA18975.hp2 NA18994.hp2 NA18995.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0003 a0002c0001t0020 a0002c0001t0001 a0002c0001t0003 a0002c0001t0020	a0002c0001t0001g0081 a0002c0001t0001g0159 a0002c0001t0003g0169 others(2): Show a0002c0001t0001g0081 a0002c0001t0001g0159 a0002c0001t0003g0169 a0002c0001t0003g0185 a0002c0001t0020g0127	5	188	0.0266	30	c.81 others(41): Show c.8164_*8165insACGGTCTCCCTCTCCCTCTCTCCACGGTCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3766		chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(23): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01515.hp2 HG02280.hp1 HG00639.hp2 HG01515.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177	3	426	0.0070	30	c.189 others(45): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC4A10_chr2_161619416_161990270	161987840	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02647.hp2 HG02809.hp2 others(3): Show HG01081.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0003t0002 a0001c0001t0001 a0001c0002t0004 a0001c0003t0002	a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0042 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0002t0004g0013 a0001c0003t0002g0021	6	118	0.0509	30	c.46 others(41): Show c.4688_*4689insTATATATATATATATATATATATATATATA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding		2571		chr2	TogoVar
SLC4A1_chr17_44243390_44273135	44264992	C C	CGAGCACT others(23): Show CGAGCACTGGGGGCTGTGGGGAGGGGGTGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02451.hp1 others(9): Show HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02886.hp1 HG02922.hp1 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0012 others(2): Show a0001c0001 a0001c0010 a0001c0012 a0001c0013 a0001c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 a0001c0010t0009 a0001c0010t0021 a0001c0012t0045 a0001c0013t0001 a0001c0013t0015 a0001c0029t0017	a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0003g0235 others(9): Show a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0017g0228 a0001c0001t0020g0234 a0001c0010t0009g0233 a0001c0010t0021g0227 a0001c0012t0045g0226 a0001c0013t0001g0230 a0001c0013t0015g0231 a0001c0029t0017g0225	12	406	0.0296	30	c.-68 others(47): Show c.-68-2088_-68-2059dupAGCACCCCCTCCCCACAGCCCCCAGTGC TC	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A1_chr17_44243390_44273135	44265022	T T	TGAGCACT others(23): Show TGAGCACTGGGGGCTGTGGGGAGGGGGTGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	406	0.0025	30	c.-68 others(47): Show c.-68-2089_-68-2088insGGCACCCCCTCCCCACAGCCCCCAGTGC TC	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A1_chr17_44243390_44273135	44265084	T T	TCACTGGG others(23): Show TCACTGGGGGCTGGTGGGAGGGGGTGCTGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	406	0.0025	30	c.-68 others(47): Show c.-68-2180_-68-2151dupCTCAGCACCCCCTCCCACCAGCCCCCAG TG	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A4_chr4_71182259_71577083	71443116	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	152	0.0066	30	c.965 others(47): Show c.965+2344_965+2345insCTCTCTATATATATATATATATATATAT AT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71443116	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	152	0.0066	30	c.965 others(47): Show c.965+2344_965+2345insCTCTCTCTCTCTATATATATATATATAT AT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71443116	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0012 a0001c0011t0012	a0001c0011t0012g0139 a0001c0011t0012g0139	1	152	0.0066	30	c.965 others(47): Show c.965+2344_965+2345insCTCTCTCTCTCTCTCTCTCTCTCTATAT AT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71536485	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0115 a0001c0001t0005g0115	1	152	0.0066	30	c.244 others(49): Show c.2442+2099_2442+2100insATATATATATATATATATATATATAT AAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71537282	A A	AATATGTC others(23): Show AATATGTCTACATATATGTATATGTATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03710.hp2 HG04199.hp1 others(1): Show HG02486.hp2 HG03710.hp2 HG04199.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0011 others(1): Show a0001c0001 a0001c0005 a0001c0011 a0003c0010	a0001c0001t0023 a0001c0005t0001 a0001c0011t0012 others(1): Show a0001c0001t0023 a0001c0005t0001 a0001c0011t0012 a0003c0010t0003	a0001c0001t0023g0003 a0001c0005t0001g0074 a0001c0011t0012g0139 others(1): Show a0001c0001t0023g0003 a0001c0005t0001g0074 a0001c0011t0012g0139 a0003c0010t0003g0130	4	152	0.0263	30	c.244 others(49): Show c.2442+2913_2442+2942dupATATGTATACACATATGTCTACATAT ATGT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443116	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0121 a0001c0002t0005g0121	1	234	0.0043	30	c.833 others(47): Show c.833+2344_833+2345insCTCTCTATATATATATATATATATATAT AT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443116	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	234	0.0043	30	c.833 others(47): Show c.833+2344_833+2345insCTCTCTCTCTCTATATATATATATATAT AT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443116	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0016 a0001c0013t0016	a0001c0013t0016g0210 a0001c0013t0016g0210	1	234	0.0043	30	c.833 others(47): Show c.833+2344_833+2345insCTCTCTCTCTCTCTCTCTCTCTCTATAT AT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536485	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18970.hp2 HG02647.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0010 a0001c0001t0006 a0001c0002t0010	a0001c0001t0006g0118 a0001c0002t0010g0228 a0001c0001t0006g0118 a0001c0002t0010g0228	2	234	0.0086	30	c.231 others(49): Show c.2310+2099_2310+2100insATATATATATATATATATATATATAT AAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71537282	A A	AATATGTC others(23): Show AATATGTCTACATATATGTATATGTATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03579.hp1 HG03710.hp1 others(3): Show HG02486.hp2 HG03579.hp1 HG03710.hp1 HG04199.hp2 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0013 others(2): Show a0001c0001 a0001c0006 a0001c0013 a0003c0009 a0003c0012	a0001c0001t0017 a0001c0001t0021 a0001c0006t0001 others(3): Show a0001c0001t0017 a0001c0001t0021 a0001c0006t0001 a0001c0013t0016 a0003c0009t0003 a0003c0012t0003	a0001c0001t0017g0217 a0001c0001t0021g0116 a0001c0006t0001g0211 others(3): Show a0001c0001t0017g0217 a0001c0001t0021g0116 a0001c0006t0001g0211 a0001c0013t0016g0210 a0003c0009t0003g0072 a0003c0012t0003g0147	6	234	0.0256	30	c.231 others(49): Show c.2310+2913_2310+2942dupATATGTATACACATATGTCTACATAT ATGT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	378	0.0027	30	c.-25 others(47): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAAATATATATATATA TA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(23): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(36): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00597.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01993.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18955.hp1 NA18956.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19088.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0001c0014 a0001c0017 a0003c0019 a0003c0020 a0005c0024	a0001c0001t0003 a0001c0001t0052 a0001c0003t0028 others(8): Show a0001c0001t0003 a0001c0001t0052 a0001c0003t0028 a0001c0004t0023 a0001c0004t0143 a0001c0012t0028 a0001c0014t0061 a0001c0017t0023 a0003c0019t0038 a0003c0020t0068 a0005c0024t0003	a0001c0001t0003g0022 a0001c0001t0003g0114 a0001c0001t0003g0209 others(31): Show a0001c0001t0003g0022 a0001c0001t0003g0114 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0244 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0261 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0311 a0001c0001t0052g0284 a0001c0001t0052g0302 a0001c0003t0028g0289 a0001c0003t0028g0292 a0001c0004t0023g0342 a0001c0004t0143g0365 a0001c0012t0028g0064 a0001c0014t0061g0029 a0001c0017t0023g0005 a0003c0019t0038g0037 a0003c0019t0038g0042 a0003c0020t0068g0034 a0005c0024t0003g0023	39	412	0.0947	30	c.19 others(41): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26669205	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0113 a0001c0029t0113	a0001c0029t0113g0101 a0001c0029t0113g0101	1	412	0.0024	30	c.18 others(41): Show c.1896_*1897insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1896		chr11	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18983.hp1 NA19072.hp2 HG00597.hp1 NA18983.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0093 a0001c0001t0001g0197 a0001c0001t0005g0185 a0001c0001t0001g0093 a0001c0001t0001g0197 a0001c0001t0005g0185	3	420	0.0071	30	c.183 others(49): Show c.1837+2263_1837+2264insGTGTATATATATATATATATATATAT ATAT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03688.hp2 NA19079.hp1 HG01496.hp1 HG03688.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0153 a0001c0001t0001g0190 a0001c0001t0001g0204	3	420	0.0071	30	c.183 others(49): Show c.1837+2263_1837+2264insGTGTGTATATATATATATATATATAT ATAT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19319605	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0156 a0004c0006t0001g0156	1	456	0.0022	30	c.164 others(47): Show c.164+1780_164+1781insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79909554	C C	CCTCACCA others(23): Show CCTCACCAGAGTCCCCAGCCTTCCCCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(190): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0004t0008 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(185): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0260 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0003g0011 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0334 a0001c0001t0006g0246 a0001c0001t0007g0031 a0001c0001t0007g0097 a0001c0001t0007g0135 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0279 a0001c0001t0008g0193 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0008g0207 a0001c0001t0008g0213 a0001c0001t0008g0258 a0001c0001t0008g0259 a0001c0001t0008g0262 a0001c0001t0008g0285 a0001c0001t0009g0088 a0001c0001t0012g0289 a0001c0001t0012g0325 a0001c0001t0012g0326 a0001c0001t0012g0328 a0001c0001t0012g0332 a0001c0001t0014g0293 a0001c0001t0014g0294 a0001c0001t0014g0316 a0001c0001t0015g0222 a0001c0001t0015g0270 a0001c0001t0015g0277 a0001c0001t0016g0008 a0001c0001t0016g0032 a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0019g0055 a0001c0001t0019g0056 a0001c0001t0020g0181 a0001c0001t0020g0192 a0001c0001t0022g0310 a0001c0001t0022g0333 a0001c0001t0024g0013 a0001c0001t0025g0014 a0001c0001t0027g0337 a0001c0001t0028g0261 a0001c0001t0029g0092 a0001c0001t0030g0037 a0001c0001t0031g0022 a0001c0001t0032g0035 a0001c0001t0033g0044 a0001c0001t0035g0238 a0001c0001t0036g0233 a0001c0001t0041g0327 a0001c0001t0042g0266 a0001c0001t0043g0291 a0001c0001t0044g0314 a0001c0004t0008g0263 a0003c0005t0001g0137	193	352	0.5483	30	c.609 others(47): Show c.609-5401_609-5372dupATGGTGGGGAAGGCTGGGGACTCTGGTG AG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79909951	C C	CACAACCT others(23): Show CACAACCTCACCAGAGTCCCCAGCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0014 a0001c0001t0025g0014	1	352	0.0028	30	c.609 others(47): Show c.609-5798_609-5769dupAGGGAAGGCTGGGGACTCTGGTGAGGTT GT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	404	0.0025	30	c.354 others(43): Show c.354+85_354+86insATATATATATATTTTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A11_chr3_10811228_10945714	10873548	T T	TCCTATGG others(23): Show TCCTATGGCATGCTATCCTATCCTACCCTAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp1 HG02109.hp2 others(12): Show HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02965.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp1 NA18939.hp2 NA18960.hp1 NA18964.hp2 NA18972.hp2 NA19067.hp2 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0016	a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 others(6): Show a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0007t0004 a0001c0008t0004 a0001c0008t0011 a0001c0009t0002 a0001c0010t0001 a0001c0016t0010	a0001c0001t0003g0105 a0001c0003t0001g0129 a0001c0004t0001g0063 others(12): Show a0001c0001t0003g0105 a0001c0003t0001g0129 a0001c0004t0001g0063 a0001c0007t0004g0289 a0001c0007t0004g0348 a0001c0008t0004g0104 a0001c0008t0004g0110 a0001c0008t0004g0235 a0001c0008t0011g0100 a0001c0008t0011g0102 a0001c0008t0011g0103 a0001c0009t0002g0347 a0001c0010t0001g0344 a0001c0010t0001g0353 a0001c0016t0010g0056	15	362	0.0414	30	c.757 others(47): Show c.757-1409_757-1408insTGGCATGCTATCCTATCCTACCCTACCC TA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A16_chr19_49284638_49330191	49286263	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	338	0.0030	30	c.38 others(41): Show c.3859_*3860insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding		3374		chr19	TogoVar
SLC6A17_chr1_110145494_110207202	110153519	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	328	0.0031	30	c.-88 others(47): Show c.-88+2639_-88+2668dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	SLC6A17	ENSG00000197106.7	transcript	ENST00000331565.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A1_chr3_10987748_11044247	11029991	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	438	0.0023	30	c.132 others(47): Show c.1323+640_1323+641insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A20_chr3_45750449_45801536	45785613	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0095	1	398	0.0025	30	c.122 others(47): Show c.122-3420_122-3391dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SLC6A20	ENSG00000163817.17	transcript	ENST00000358525.9	protein_coding	1/10			chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1411740	G G	GCACATAC others(23): Show GCACATACCATGCAACATACACACTCAGACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18960.hp1 NA18990.hp1 HG01891.hp2 NA18960.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0223 a0001c0001t0002g0217 a0001c0001t0012g0343 a0001c0001t0001g0223 a0001c0001t0002g0217 a0001c0001t0012g0343	3	373	0.0080	30	c.115 others(47): Show c.1157-415_1157-386dupTGTCTGAGTGTGTATGTTGCATGGTATG TG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A4_chr17_30189319_30240697	30230045	A A	AAAGAAGA others(23): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0116 a0001c0001t0016g0116	1	286	0.0035	30	c.-22 others(49): Show c.-221+5538_-221+5567dupCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC7A11_chr4_138159097_138247349	138237700	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	364	0.0028	30	c.278 others(47): Show c.278-1279_278-1250dupATATATATATATATATATATATATATAT AT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG01884.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0167 a0001c0006t0009 a0001c0001t0167 a0001c0006t0009	a0001c0001t0167g0095 a0001c0006t0009g0162 a0001c0001t0167g0095 a0001c0006t0009g0162	2	364	0.0055	30	c.278 others(47): Show c.278-1287_278-1286insAAAATATATATATATATATATATATATA TA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0010 a0001c0001t0062g0010	1	364	0.0028	30	c.278 others(47): Show c.278-1287_278-1286insAAAAAAAATATATATATATATATATATA TA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0118 a0001c0001t0137g0118	1	364	0.0028	30	c.278 others(47): Show c.278-1287_278-1286insAAAAAAAAAATATATATATATATATATA TA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18941.hp1 NA18966.hp2 HG02886.hp2 NA18941.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0002t0004g0228 a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0002t0004g0228	3	330	0.0091	30	c.-11 others(49): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29576292	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02897.hp2 HG01891.hp2 HG02109.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0095 a0001c0004t0011g0096 a0001c0004t0011g0097 a0001c0004t0011g0095 a0001c0004t0011g0096 a0001c0004t0011g0097	3	330	0.0091	30	c.-11 others(51): Show c.-115+19123_-115+19124insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)