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
SLC26A4_chr7_107655828_107722809	107686336	A A	ACTCCCTT others(20): Show ACTCCCTTTCCTCCCCTTCCTACCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	366	0.0027	27	c.100 others(46): Show c.1002-2696_1002-2670dupACCTTCCCTCCCTTTCCTCCCCTTCC T	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC26A4_chr7_107655828_107722809	107686405	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	366	0.0027	27	c.100 others(46): Show c.1002-2646_1002-2645insCTTTCTTTCTTTCTTTCTTTCTTTCT T	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC26A7_chr8_91244319_91403155	91401586	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	210	0.0048	27	c.64 others(38): Show c.6489_*6490insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC26A7	ENSG00000147606.9	transcript	ENST00000276609.8	protein_coding		3432		chr8	TogoVar
SLC26A8_chr6_35938516_36029641	35968570	T T	TAAATATA others(20): Show TAAATATACATATGTGTGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02818.hp1 others(2): Show HG02257.hp2 HG02258.hp1 HG02818.hp1 HG03098.hp2 HG03130.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0002c0002t0002g0195 a0002c0002t0002g0200 a0002c0002t0002g0231 others(2): Show a0002c0002t0002g0195 a0002c0002t0002g0200 a0002c0002t0002g0231 a0003c0003t0001g0095 a0003c0003t0002g0220	5	306	0.0163	27	c.136 others(44): Show c.1365+280_1365+306dupCACACACATACACACATATGTATATTT	SLC26A8	ENSG00000112053.14	transcript	ENST00000490799.6	protein_coding	11/19			chr6	TogoVar
SLC27A2_chr15_50177196_50241385	50196053	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0339 a0007c0014t0001g0339	1	362	0.0028	27	c.479 others(44): Show c.479-1422_479-1421insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC27A2	ENSG00000140284.11	transcript	ENST00000267842.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC27A6_chr5_128960488_129038635	129006071	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	358	0.0028	27	c.970 others(44): Show c.970-9789_970-9788insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC27A6	ENSG00000113396.13	transcript	ENST00000262462.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC28A1_chr15_84879662_84950798	84916240	C C	CAGGTGTG others(20): Show CAGGTGTGAGCCACCATGCCTGGCCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(47): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03492.hp2 HG03540.hp2 NA18747.hp1 NA18942.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18983.hp1 NA18992.hp2 NA19070.hp2 NA19077.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0011 a0016	a0001c0002 a0001c0004 a0001c0008 others(8): Show a0001c0002 a0001c0004 a0001c0008 a0001c0020 a0002c0001 a0002c0019 a0003c0005 a0004c0003 a0006c0016 a0011c0017 a0016c0033	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0008t0002 a0001c0020t0003 a0002c0001t0001 a0002c0001t0002 a0002c0019t0003 a0003c0005t0001 a0004c0003t0001 a0006c0016t0001 a0011c0017t0001 a0016c0033t0001	a0001c0002t0001g0005 a0001c0002t0001g0060 a0001c0002t0001g0091 others(47): Show a0001c0002t0001g0005 a0001c0002t0001g0060 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0274 a0001c0002t0002g0221 a0001c0004t0001g0187 a0001c0004t0001g0240 a0001c0004t0001g0384 a0001c0004t0001g0385 a0001c0008t0002g0217 a0001c0020t0003g0252 a0001c0020t0003g0318 a0002c0001t0001g0027 a0002c0001t0001g0099 a0002c0001t0001g0104 a0002c0001t0001g0134 a0002c0001t0001g0144 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0171 a0002c0001t0001g0174 a0002c0001t0001g0251 a0002c0001t0001g0253 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0331 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0342 a0002c0001t0001g0363 a0002c0001t0001g0370 a0002c0001t0002g0092 a0002c0001t0002g0201 a0002c0001t0002g0216 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0308 a0002c0019t0003g0100 a0003c0005t0001g0321 a0003c0005t0001g0322 a0004c0003t0001g0063 a0006c0016t0001g0327 a0006c0016t0001g0329 a0011c0017t0001g0294 a0016c0033t0001g0181	50	396	0.1263	27	c.796 others(44): Show c.796-2284_796-2283insAGGTGTGAGCCACCATGCCTGGCCTTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	9/18			chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84916240	C C	CAGGTGTG others(20): Show CAGGTGTGAGCCACCATGCTGGCCTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0151	1	396	0.0025	27	c.796 others(44): Show c.796-2284_796-2283insAGGTGTGAGCCACCATGCTGGCCTTTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	9/18			chr15	TogoVar
SLC2A13_chr12_39750025_40111081	39959774	G G	GTTTATCC others(20): Show GTTTATCCTTTCTAAATAAATAATTTTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	214	0.0047	27	c.926 others(44): Show c.926-8410_926-8409insTAAAATTATTTATTTAGAAAGGATAAA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	3/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39971997	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02129.hp1 HG00738.hp2 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0021 a0001c0002t0004g0013 a0001c0002t0004g0021	2	214	0.0094	27	c.926 others(46): Show c.926-20633_926-20632insATATATATATATATATATATATATAT T	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	3/9			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7808908	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19081.hp1 NA18941.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0012 a0001c0003t0001 a0001c0003t0012	a0001c0003t0001g0068 a0001c0003t0012g0057 a0001c0003t0001g0068 a0001c0003t0012g0057	2	350	0.0057	27	c.54 others(38): Show c.5407_*5408insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		3605		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0129 a0004c0017t0002g0129	1	350	0.0029	27	c.864 others(42): Show c.864+641_864+642insAAAAAAGAAAGAAAGGAAGGAAGGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTTCTTTCTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03942.hp1 NA18612.hp2 others(1): Show HG02523.hp2 HG03942.hp1 NA18612.hp2 NA18984.hp1	a0002 a0002	a0002c0001 a0002c0009 a0002c0010 a0002c0001 a0002c0009 a0002c0010	a0002c0001t0002 a0002c0009t0002 a0002c0010t0002 a0002c0001t0002 a0002c0009t0002 a0002c0010t0002	a0002c0001t0002g0276 a0002c0009t0002g0264 a0002c0010t0002g0049 others(1): Show a0002c0001t0002g0276 a0002c0009t0002g0264 a0002c0010t0002g0049 a0002c0010t0002g0243	4	350	0.0114	27	c.864 others(42): Show c.864+641_864+642insAAAGAAAAAAGAAAGAAAGGAAGGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874816	T T	TTATATAT others(20): Show TTATATATAAATAATATATAAATACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0038 a0001c0006t0004g0038	1	350	0.0029	27	c.-20 others(38): Show c.-2068_-2067insTACGTATTTATATATTATTTATATATA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1902		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874824	A A	AATTATAT others(20): Show AATTATATTTAATACGTATAATTTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0099 a0001c0008t0001g0099	1	350	0.0029	27	c.-20 others(38): Show c.-2076_-2075insATATAAATTATACGTATTAAATATAAT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1910		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874835	A A	AAATACGT others(20): Show AAATACGTATTATATATAAATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	350	0.0029	27	c.-20 others(38): Show c.-2087_-2086insATATATAATTTATATATAATACGTATT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1921		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874838	T T	TACGTATT others(20): Show TACGTATTATATATAAATTATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 NA19065.hp1 HG02257.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0031 a0001c0004t0001g0069 a0001c0002t0003g0031 a0001c0004t0001g0069	2	350	0.0057	27	c.-20 others(38): Show c.-2090_-2089insTTTATATATAATTTATATATAATACGT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1924		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874964	A A	ATTATATA others(20): Show ATTATATATAAATATATTTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	350	0.0029	27	c.-22 others(38): Show c.-2216_-2215insATTATATATAAATATATTTATATATAA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		2050		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874991	A A	ATTATATA others(20): Show ATTATATATAAATATATTTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0013 a0001c0003t0010g0014 a0001c0003t0010g0013 a0001c0003t0010g0014	2	350	0.0057	27	c.-22 others(38): Show c.-2243_-2242insATTATATATAAATATATTTATATATAA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		2077		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7875135	T T	TTAAATAT others(20): Show TTAAATATTATATTTAAAATTAAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0337 a0001c0002t0003g0337	1	350	0.0029	27	c.-24 others(38): Show c.-2413_-2387dupTATATTTAATTTTAAATATAATATTTA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		2221		chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7875159	T T	TATATATA others(20): Show TATATATAAATATTATATTTAAAATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0183 a0001c0004t0001g0183	1	350	0.0029	27	c.-24 others(38): Show c.-2411_-2410insTTAATTTTAAATATAATATTTATATAT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		2245		chr12	TogoVar
SLC2A1_chr1_42920353_42963868	42920946	C C	CAGTGAGT others(20): Show CAGTGAGTCGAGATCATGCCACTGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	396	0.0025	27	c.60 others(38): Show c.6094_*6095insAGTGCAGTGGCATGATCTCGACTCACT	SLC2A1	ENSG00000117394.24	transcript	ENST00000426263.10	protein_coding		4406		chr1	TogoVar
SLC2A3_chr12_7914230_7941187	7916625	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	420	0.0024	27	c.47 others(38): Show c.4787_*4788insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC2A3	ENSG00000059804.17	transcript	ENST00000075120.12	protein_coding		2604		chr12	TogoVar
SLC30A10_chr1_219905445_219933557	219911149	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01081.hp2 others(10): Show HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp1 NA18939.hp1 NA18963.hp1 NA18983.hp2 NA18991.hp1 NA18994.hp1 NA19062.hp2 NA19070.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0066 others(1): Show a0001c0001t0014 a0001c0001t0033 a0001c0001t0066 a0001c0001t0112	a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0120 others(10): Show a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0120 a0001c0001t0014g0134 a0001c0001t0014g0136 a0001c0001t0014g0141 a0001c0001t0014g0143 a0001c0001t0014g0148 a0001c0001t0033g0051 a0001c0001t0033g0069 a0001c0001t0033g0098 a0001c0001t0066g0118 a0001c0001t0112g0039	13	426	0.0305	27	c.42 others(38): Show c.4299_*4300insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC30A10	ENSG00000196660.12	transcript	ENST00000366926.4	protein_coding	4/4	4299		chr1	TogoVar
SLC30A10_chr1_219905445_219933557	219925652	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0047 a0001c0001t0012g0047	1	426	0.0024	27	c.718 others(44): Show c.718+1375_718+1376insTATATATATATATATATATATATATAT	SLC30A10	ENSG00000196660.12	transcript	ENST00000366926.4	protein_coding	2/3			chr1	TogoVar
SLC30A5_chr5_69089014_69136069	69125870	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 NA18992.hp1 others(2): Show HG00597.hp1 HG00639.hp1 NA18992.hp1 NA19067.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0045 a0001c0001t0003g0107 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0045 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0127	5	408	0.0123	27	c.199 others(46): Show c.1999-2108_1999-2107insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A7_chr1_100891090_100986757	100964282	C C	CCTATATA others(20): Show CCTATATAGGTTATATAACCTATAACCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG03579.hp1 HG02818.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0203 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0203	3	222	0.0135	27	c.934 others(44): Show c.934-1487_934-1486insCTATATAGGTTATATAACCTATAACCT	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	9/10			chr1	TogoVar
SLC33A1_chr3_155816024_155859427	155857264	A A	ATCAGTTT others(20): Show ATCAGTTTTTAAATAAGGAATCTTCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0337 a0002c0002t0062g0337	1	392	0.0026	27	c.-32 others(38): Show c.-3268_-3267insCAAGAAGATTCCTTATTTAAAAACTGA	SLC33A1	ENSG00000169359.16	transcript	ENST00000643144.2	protein_coding		2838		chr3	TogoVar
SLC34A1_chr5_177379434_177403848	177396430	A A	ATCCGCTC others(20): Show ATCCGCTCTCCCAGTGCCCCCGCGGAGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02976.hp2 HG02080.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0002g0075 a0001c0001t0001g0115 a0001c0001t0002g0075	2	432	0.0046	27	c.117 others(44): Show c.1175-272_1175-246dupGCTCTCCCAGTGCCCCCGCGGAGGTCC	SLC34A1	ENSG00000131183.11	transcript	ENST00000324417.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC34A1_chr5_177379434_177403848	177396461	G G	GCTCTCCC others(20): Show GCTCTCCCAGTGCCCCCGCGGAGGTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp1 NA19089.hp1 HG01109.hp2 HG03041.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0073 a0001c0001t0001g0155 a0001c0001t0005g0110 a0001c0001t0001g0073 a0001c0001t0001g0155 a0001c0001t0005g0110	3	432	0.0069	27	c.117 others(44): Show c.1175-218_1175-192dupTCTCTCCCAGTGCCCCCGCGGAGGTCC	SLC34A1	ENSG00000131183.11	transcript	ENST00000324417.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC34A1_chr5_177379434_177403848	177396515	T T	TCTCTCCC others(20): Show TCTCTCCCAGTGCCCCCGCGGAGGTCCG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19062.hp1 NA18966.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	432	0.0046	27	c.117 others(44): Show c.1175-191_1175-165dupGCTCTCCCAGTGCCCCCGCGGAGGTCC	SLC34A1	ENSG00000131183.11	transcript	ENST00000324417.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC35B3_chr6_8406435_8440545	8409469	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	412	0.0024	27	c.40 others(38): Show c.4079_*4080insATATATATATATATATATATATATATA	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding		1965		chr6	TogoVar
SLC35D2_chr9_96315710_96388711	96324549	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	284	0.0035	27	c.753 others(42): Show c.753-381_753-380insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC35D2	ENSG00000130958.13	transcript	ENST00000253270.13	protein_coding	9/11			chr9	TogoVar
SLC35E3_chr12_68741176_68786468	68776212	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG02055.hp1 HG02145.hp2 others(6): Show HG01361.hp1 HG02055.hp1 HG02145.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0072 a0001c0001t0094 others(5): Show a0001c0001t0051 a0001c0001t0072 a0001c0001t0094 a0001c0001t0104 a0001c0001t0173 a0001c0001t0181 a0001c0001t0300 a0001c0001t0301	a0001c0001t0051g0038 a0001c0001t0051g0097 a0001c0001t0072g0006 others(6): Show a0001c0001t0051g0038 a0001c0001t0051g0097 a0001c0001t0072g0006 a0001c0001t0094g0041 a0001c0001t0104g0041 a0001c0001t0173g0233 a0001c0001t0181g0185 a0001c0001t0300g0049 a0001c0001t0301g0120	9	436	0.0206	27	c.11 others(40): Show c.11336_*11337insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC35E3	ENSG00000175782.11	transcript	ENST00000398004.4	protein_coding	5/5	11337	INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC35F1_chr6_117902264_118322671	118322192	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	182	0.0055	27	c.79 others(38): Show c.7940_*7941insGTGTGTGTGTGTGTGTGTGTGTGTGTG	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding		4522		chr6	TogoVar
SLC35F2_chr11_107785991_107863787	107833518	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	342	0.0029	27	c.111 others(46): Show c.111-17554_111-17553insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC35F2	ENSG00000110660.15	transcript	ENST00000525815.6	protein_coding	1/7			chr11	TogoVar
SLC36A1_chr5_151442603_151497379	151468269	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	404	0.0025	27	c.723 others(42): Show c.723+358_723+384dupATATATATATATTTTATATATATATAT	SLC36A1	ENSG00000123643.14	transcript	ENST00000243389.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC36A1_chr5_151442603_151497379	151474183	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAGAAATTATCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	404	0.0025	27	c.822 others(42): Show c.822+412_822+413insAAAAAAAAAAAAAAAGAAATTATCTTC	SLC36A1	ENSG00000123643.14	transcript	ENST00000243389.8	protein_coding	8/10			chr5	TogoVar
SLC36A3_chr5_151271358_151308766	151301811	C C	CACACCCC others(20): Show CACACCCCACACCAACGGGGAGGGGAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0219 a0003c0003t0003g0219	1	404	0.0025	27	c.128 others(44): Show c.128+1415_128+1416insTTTCCCCTCCCCGTTGGTGTGGGGTGT	SLC36A3	ENSG00000186334.10	transcript	ENST00000335230.8	protein_coding	1/9			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387749	A A	AAATATAA others(20): Show AAATATAAATATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	346	0.0029	27	c.-70 others(44): Show c.-70-5154_-70-5153insATATATAATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC38A10_chr17_81239811_81300307	81249517	G G	GAGGAGGG others(20): Show GAGGAGGGAGGAGAGAAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp1 others(10): Show HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0005 a0001c0007 a0001c0037 others(2): Show a0001c0005 a0001c0007 a0001c0037 a0004c0038 a0005c0025	a0001c0005t0001 a0001c0005t0005 a0001c0007t0001 others(3): Show a0001c0005t0001 a0001c0005t0005 a0001c0007t0001 a0001c0037t0001 a0004c0038t0001 a0005c0025t0001	a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0045 others(10): Show a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0005g0164 a0001c0007t0001g0055 a0001c0037t0001g0056 a0004c0038t0001g0057 a0005c0025t0001g0042	13	214	0.0608	27	c.206 others(46): Show c.2065+1975_2065+1976insTCTCCCTCCTCTTCTCTCCTCCCTCC T	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72759111	C C	CAATAATA others(20): Show CAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0109 a0003c0003t0001g0109	1	180	0.0056	27	c.602 others(46): Show c.602-22393_602-22392insATTATTATTATTATTATTATTATTAT T	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	6/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72932292	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp2 HG02145.hp1 others(6): Show HG01255.hp1 HG01258.hp2 HG02145.hp1 HG02895.hp2 HG02896.hp2 HG03130.hp2 NA18971.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0017	a0001c0001t0003 a0001c0001t0010 a0002c0002t0003 others(5): Show a0001c0001t0003 a0001c0001t0010 a0002c0002t0003 a0002c0002t0011 a0002c0004t0001 a0002c0004t0003 a0002c0004t0011 a0002c0017t0001	a0001c0001t0003g0025 a0001c0001t0010g0162 a0002c0002t0003g0122 others(6): Show a0001c0001t0003g0025 a0001c0001t0010g0162 a0002c0002t0003g0122 a0002c0002t0011g0027 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0003g0041 a0002c0004t0011g0026 a0002c0017t0001g0050	9	180	0.0500	27	c.430 others(46): Show c.430+15459_430+15460insTAATAATAATAATAATAATAATAATA A	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0161 a0006c0016t0002g0161	1	180	0.0056	27	c.306 others(46): Show c.306+27323_306+27324insCTTTCTTTCTTTCTTTCTTTCTTTCT T	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73062475	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03540.hp2 HG03098.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0003 a0001c0001t0001 a0003c0007t0003	a0001c0001t0001g0043 a0003c0007t0003g0042 a0001c0001t0001g0043 a0003c0007t0003g0042	2	180	0.0111	27	c.147 others(46): Show c.147+22332_147+22333insGTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22423786	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG03225.hp1 HG04199.hp1 HG02056.hp2 HG03225.hp1 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0003c0001 a0001c0003 a0001c0005 a0003c0001	a0001c0003t0011 a0001c0005t0003 a0003c0001t0001 a0001c0003t0011 a0001c0005t0003 a0003c0001t0001	a0001c0003t0011g0289 a0001c0005t0003g0156 a0003c0001t0001g0100 a0001c0003t0011g0289 a0001c0005t0003g0156 a0003c0001t0001g0100	3	324	0.0093	27	c.40 others(38): Show c.4088_*4089insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding		1051		chr8	TogoVar
SLC39A1_chr1_153954110_153968537	153963465	G G	GGACCCCG others(20): Show GGACCCCGCTGCCAAACAGCCCGCACTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	396	0.0025	27	c.-33 others(40): Show c.-33+29_-33+30insGAGTGCGGGCTGTTTGGCAGCGGGGTC	SLC39A1	ENSG00000143570.19	transcript	ENST00000356205.9	protein_coding	1/3			chr1	TogoVar
SLC39A6_chr18_36103531_36134340	36106261	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19003.hp2 HG02080.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0143 a0001c0001t0001g0162	2	410	0.0049	27	c.33 others(38): Show c.3331_*3332insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC39A6	ENSG00000141424.13	transcript	ENST00000269187.10	protein_coding		2269		chr18	TogoVar
SLC41A3_chr3_126001357_126089124	126084094	G G	GGGTCCCC others(20): Show GGGTCCCCTCCCAGGCGGCGGCGGAAAA	splice_region_variant splice_region_variant	LOW	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0362 a0001c0001t0012g0362	1	370	0.0027	27	c.-30 others(34): Show c.-30_-29insTTTTCCGCCGCCGCCTGGGAGGGGACC	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	1/11			chr3	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 NA19005.hp2 HG00673.hp2 HG01106.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0316 a0001c0001t0001g0337 a0001c0001t0011g0199 a0001c0001t0001g0316 a0001c0001t0001g0337 a0001c0001t0011g0199	3	382	0.0079	27	c.502 others(44): Show c.502-6874_502-6873insATATATATATATATATATATATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar

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