Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC12A7_chr5_1045384_1117063	1063716	G G	GCCACAGC others(43): Show GCCACAGCCCTCCCGATCTCCACTTCCCCCTCCACCCCCACCTCACGAGG C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp2 HG01884.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0059 a0001c0014t0003g0058 a0001c0014t0003g0059	2	114	0.0175	50	c.273 others(66): Show c.2739+78_2739+127dupGCCTCGTGAGGTGGGGGTGGAGGGGGAAG TGGAGATCGGGAGGGCTGTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071950	C C	CCCCAGTG others(43): Show CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	50	c.224 others(69): Show c.2241+1682_2241+1683insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(43): Show ATATATACATATATATATATATATATATATACATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02148.hp2 HG02258.hp1 others(10): Show HG01358.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG03130.hp2 HG03942.hp1 HG03942.hp2 NA19062.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0023 a0002c0001 a0003c0006 others(5): Show a0001c0023 a0002c0001 a0003c0006 a0004c0003 a0005c0008 a0006c0007 a0008c0011 a0009c0012	a0001c0023t0003 a0002c0001t0002 a0002c0001t0019 others(7): Show a0001c0023t0003 a0002c0001t0002 a0002c0001t0019 a0003c0006t0002 a0004c0003t0005 a0005c0008t0004 a0006c0007t0003 a0006c0007t0004 a0008c0011t0001 a0009c0012t0002	a0001c0023t0003g0374 a0002c0001t0002g0036 a0002c0001t0019g0041 others(10): Show a0001c0023t0003g0374 a0002c0001t0002g0036 a0002c0001t0019g0041 a0003c0006t0002g0052 a0004c0003t0005g0070 a0005c0008t0004g0171 a0006c0007t0003g0028 a0006c0007t0003g0057 a0006c0007t0003g0149 a0006c0007t0003g0150 a0006c0007t0004g0170 a0008c0011t0001g0172 a0009c0012t0002g0239	13	237	0.0549	50	c.135 others(69): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA CATATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(43): Show ATATATACATATATATATATATATATATATATACATATATATATATATAT T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0017 a0003c0005t0017	a0003c0005t0017g0144 a0003c0005t0017g0144	1	225	0.0044	50	c.135 others(69): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA TACATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	177	0.0056	50	c.-21 others(61): Show c.-2175_-2174insCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	2	178	0.0112	50	c.-21 others(61): Show c.-2175_-2174insCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A5_chr6_73588379_73658992	73601441	G G	GCCCTGTC others(43): Show GCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCACCCCGCCTGGCCAGCC A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	317	0.0032	50	c.126 others(69): Show c.1260-1001_1260-1000insTGGCTGGCCAGGCGGGGTGCTGACCC CCCCCACCTCCCTCCCGGACAGGG	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC17A5_chr6_73588379_73658992	73654879	A A	AGTCCCCC others(43): Show AGTCCCCCCCCCCCACCCCCCCCCCCCCCCGGTCCCCCCCCCCCCCCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	322	0.0031	50	c.-99 others(59): Show c.-994_-993insGGGGGGGGGGGGGGGGGGACCGGGGGGGGGGGGGGG TGGGGGGGGGGGAC	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding		888		chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792356	G G	GAAAGAAG others(43): Show GAAAGAAGGAAAGAAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0014 a0002c0004t0005g0014	1	256	0.0039	50	c.184 others(67): Show c.184-2085_184-2084insTCTTTCTTTCTCTTTCTTTCTCTTTCTT TCTTTCTTTTCTTTCCTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC20A2_chr8_42411475_42506231	42505109	C C	CTGGCATA others(43): Show CTGGCATAGTAACTGAACATGCCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	6	0.1667	50	c.-43 others(61): Show c.-4344_-4343insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATG TTCAGTTACTATGCCA	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding		3879		chr8	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(43): Show CATGGTACTGATATATATATATATATATGGAACAGAACAGAGACCTCAGA A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	20	0.0500	50	c.107 others(69): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC22A25_chr11_63153437_63248599	63177839	G G	GTATATAT others(43): Show GTATATATATAATGTATATATATAATATATATATATAATGTATATATATA A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	342	0.0029	50	c.107 others(69): Show c.1070+2820_1070+2821insTTATATATATACATTATATATATATA TTATATATATACATTATATATATA	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	9/11			chr11	TogoVar
SLC23A3_chr2_219156465_219175029	219159540	T T	TATATATA others(43): Show TATATATATGCATATATATATATGCATATATATATATGCATATATATATG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03239.hp1 HG03688.hp2 others(4): Show HG03017.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	7	414	0.0169	50	c.23 others(61): Show c.2368_*2369insGCATATATATATGCATATATATATATGCATATAT ATATATGCATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1924		chr2	TogoVar
SLC23A3_chr2_219156465_219175029	219159552	C C	CATATATA others(43): Show CATATATATGCATATATATATATGCATATATATATGCATATATATATGCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	284	0.0035	50	c.23 others(61): Show c.2356_*2357insATGCATATATATATGCATATATATATGCATATAT ATATATGCATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1912		chr2	TogoVar
SLC25A13_chr7_96115220_96327098	96134793	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	112	0.0089	50	c.145 others(69): Show c.1453-2913_1453-2912insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	14/17			chr7	TogoVar
SLC25A13_chr7_96115220_96327098	96147054	T T	TCGTATCC others(43): Show TCGTATCCAAATGAGGAGACACAGAACGTATCCAAATGAGGAGACACAGA A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	101	0.0099	50	c.131 others(67): Show c.1312-408_1312-359dupTTCTGTGTCTCCTCATTTGGATACGTTC TGTGTCTCCTCATTTGGATACG	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC25A36_chr3_140936836_140985995	140983578	T T	TATATATA others(43): Show TATATATATATATATATATATATATGTATATATATATATATATATATACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02300.hp1 HG01928.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0047 a0001c0001t0005g0038 a0001c0001t0005g0047	2	165	0.0121	50	c.71 others(61): Show c.7125_*7126insATATATATATATATATATATATATGTATATATAT ATATATATATATACAC	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2584		chr3	TogoVar
SLC27A2_chr15_50177196_50241385	50238334	A A	ACATTGTG others(43): Show ACATTGTGCAATTGTGTTACCTGGAATCTTGTCAAAGGAGAAGGTTGTCA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0259 a0002c0012t0002g0259	1	360	0.0028	50	c.22 others(61): Show c.2238_*2239insCATTGTGCAATTGTGTTACCTGGAATCTTGTCAA AGGAGAAGGTTGTCAG	SLC27A2	ENSG00000140284.11	transcript	ENST00000267842.10	protein_coding		1950		chr15	TogoVar
SLC2A8_chr9_127392169_127412898	127409299	T T	TGGGGAGG others(43): Show TGGGGAGGTGGGGGAGATGATGGGGAGGTGGAGGAAGATGATGGGGAGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	329	0.0030	50	c.20 others(61): Show c.2050_*2051insGGGGAGGTGGGGGAGATGATGGGGAGGTGGAGGA AGATGATGGGGAGGTG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1402		chr9	TogoVar
SLC2A9_chr4_9821224_10026497	9931913	A A	ACTCTCTC others(43): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCAA T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0203 a0002c0006t0001g0203	1	277	0.0036	50	c.814 others(68): Show c.814+9999_814+10000insATTGAGAGAGAGAGAGATTGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAG	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931916	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCA A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG02976.hp1 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0001 a0002c0008t0001 a0002c0006t0001 a0002c0008t0001	a0002c0006t0001g0335 a0002c0008t0001g0220 a0002c0006t0001g0335 a0002c0008t0001g0220	2	331	0.0060	50	c.814 others(67): Show c.814+9996_814+9997insTTGAGAGAGAGAGAGATTGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931957	T T	TATATATA others(43): Show TATATATATATATATATATATACATATATATATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	334	0.0030	50	c.814 others(67): Show c.814+9955_814+9956insGTATATATATATATATATATATATATAT GTATATATATATATATATATAT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931962	C C	CAATCTCT others(43): Show CAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0223 a0002c0008t0001g0223	1	158	0.0063	50	c.814 others(67): Show c.814+9950_814+9951insTATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931962	C C	CAATCTCT others(43): Show CAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0225 a0002c0008t0001g0225	1	158	0.0063	50	c.814 others(67): Show c.814+9950_814+9951insTATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC30A5_chr5_69089014_69136069	69118311	G G	GTGTGTAT others(43): Show GTGTGTATATATATATATATATATATATGTGTATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19004.hp1 NA19012.hp2 NA18994.hp2 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0235	3	309	0.0097	50	c.144 others(67): Show c.1440-187_1440-186insGTGTATATATATATATATATATATATGT GTATATATATATATATATATAT	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A7_chr1_100891090_100986757	100964259	A A	AATATAGG others(43): Show AATATAGGTTATATAACCTATAACCTATATAGGTTATATAACCTATAACC T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0143 a0001c0001t0027g0143	1	205	0.0049	50	c.934 others(67): Show c.934-1505_934-1504insGGTTATATAACCTATAACCTATATAGGT TATATAACCTATAACCTATATA	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC30A7_chr1_100891090_100986757	100964265	T T	TGTTATAT others(43): Show TGTTATATAACCTATAACCTATATAGGTTATATAACCTATAACCTATATA G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG01099.hp2 others(24): Show HG00099.hp2 HG00408.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG02132.hp1 HG02615.hp2 HG02683.hp1 HG03239.hp1 HG03704.hp1 HG03834.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18948.hp2 NA18955.hp2 NA18969.hp1 NA18970.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA19043.hp1 NA19058.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(20): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0022g0147	27	182	0.1484	50	c.934 others(67): Show c.934-1487_934-1486insCTATATAGGTTATATAACCTATAACCTA TATAGGTTATATAACCTATAAC	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35D1_chr1_66994350_67059148	67013157	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	252	0.0040	50	c.877 others(67): Show c.877-3991_877-3990insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	SLC35D1	ENSG00000116704.8	transcript	ENST00000235345.6	protein_coding	10/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923648	T T	TATATACA others(43): Show TATATACATATACATATGTACATATACACATATACATATGTACATATGTA C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04204.hp2 HG01081.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0142 a0001c0001t0036g0143 a0001c0001t0002g0142 a0001c0001t0036g0143	2	180	0.0111	50	c.173 others(69): Show c.173+15751_173+15752insATACATATACATATGTACATATACAC ATATACATATGTACATATGTACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234108184	A A	ATATATAT others(43): Show ATATATATATAAAAGATATATATATTTATATATATAAAAGATATATATAT T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG03453.hp2 HG02622.hp1 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0032 a0001c0002t0002g0152 a0001c0004t0001g0051 a0001c0001t0001g0032 a0001c0002t0002g0152 a0001c0004t0001g0051	3	109	0.0275	50	c.284 others(71): Show c.284-123185_284-123136dupATTTATATATATAAAAGATATATA TATTTATATATATAAAAGATATATAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234108433	G G	GATATATA others(43): Show GATATATATTATTTATATATAAAAGATATATATAAATGATATATATTATT T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0112 a0001c0001t0013g0112	1	126	0.0079	50	c.284 others(71): Show c.284-122976_284-122975insTATTTATATATAAAAGATATATAT AAATGATATATATTATTTATATATAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC36A1_chr5_151442603_151497379	151458356	T T	TACATACA others(43): Show TACATACACTTGTATATATATATATATATATATATATATATATATACACA C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	152	0.0066	50	c.-5- others(63): Show c.-5-429_-5-428insTACACTTGTATATATATATATATATATATATA TATATATATACACACACA	SLC36A1	ENSG00000123643.14	transcript	ENST00000243389.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC38A6_chr14_60976245_61057630	61052744	C C	CAGTTTCC others(43): Show CAGTTTCCCCTATTAACTCTACGTACAGAGTGCTACAATTCGTTACCAAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0195 a0005c0011t0003g0195	1	318	0.0031	50	c.31 others(59): Show c.315_*316insAGTTTCCCCTATTAACTCTACGTACAGAGTGCTACA ATTCGTTACCAATA	SLC38A6	ENSG00000139974.17	transcript	ENST00000267488.9	protein_coding		115		chr14	TogoVar
SLC38A9_chr5_55620848_55717324	55696001	G G	GGGGCGGC others(43): Show GGGGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCCACCTCCCTCCCGGAC T	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18977.hp2 HG02738.hp1 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0259 a0002c0002t0001g0223 a0002c0002t0001g0259	2	224	0.0089	50	c.113 others(67): Show c.113+1844_113+1845insAGTCCGGGAGGGAGGTGGGGGGGGTCAG CTCCCCGCCCGGCCAGCCGCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696274	C C	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCTCACCTCCCTCCCGGAC G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG03486.hp2 HG02280.hp2 HG03453.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0009 a0002c0005t0002g0010 a0002c0005t0002g0011 a0002c0005t0002g0009 a0002c0005t0002g0010 a0002c0005t0002g0011	3	53	0.0566	50	c.113 others(67): Show c.113+1571_113+1572insCGTCCGGGAGGGAGGTGAGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696276	G G	GGGCGGCT others(43): Show GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGG A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0006 a0002c0003t0004g0006	1	342	0.0029	50	c.113 others(67): Show c.113+1569_113+1570insTCCGTCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGAAAG others(43): Show AAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAA G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	56	0.0179	50	c.306 others(69): Show c.306+27323_306+27324insCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCCTTTCTTTCTTTCCTTTCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGGAAA others(43): Show AAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18979.hp1 HG02280.hp1 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0022 a0003c0003t0001g0143 a0001c0001t0002g0022 a0003c0003t0001g0143	2	57	0.0351	50	c.306 others(69): Show c.306+27323_306+27324insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCCTTTCTTTCTTTCCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73026187	G G	GAGAGAAG others(43): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp1 HG02083.hp1 others(2): Show HG01074.hp1 HG01433.hp1 HG02083.hp1 NA18971.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0010 a0001c0006t0001 a0001c0001t0001 a0001c0001t0010 a0001c0006t0001	a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0139 a0001c0001t0010g0162 a0001c0006t0001g0106	5	15	0.3333	50	c.306 others(67): Show c.306+5368_306+5369insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A6_chr18_36103531_36134340	36106261	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	112	0.0089	50	c.33 others(61): Show c.3331_*3332insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	SLC39A6	ENSG00000141424.13	transcript	ENST00000269187.10	protein_coding		2269		chr18	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	3	0.3333	50	c.274 others(67): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTCTCTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GAAGAAGA others(43): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	219	0.0046	50	c.42 others(61): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203235	G G	GGGAGAGG others(43): Show GGGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	186	0.0054	50	c.83 others(61): Show c.8336_*8337insACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGGT CTCCCTCTCCCTCTCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3938		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203315	G G	GGAGAGAG others(43): Show GGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0060 a0002c0001t0001g0060	1	176	0.0057	50	c.82 others(61): Show c.8256_*8257insTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCC TCTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3858		chr8	TogoVar
SLC4A1_chr17_44243390_44273135	44263721	C C	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTCCATCCCTGCTTCCTTCCTTCCTTCCTCCATCCCT G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0005 a0001c0016t0009 a0001c0001t0005 a0001c0016t0009	a0001c0001t0005g0255 a0001c0016t0009g0238 a0001c0001t0005g0255 a0001c0016t0009g0238	2	395	0.0051	50	c.-68 others(65): Show c.-68-788_-68-787insCAGGGATGGAGGAAGGAAGGAAGGAAGCAG GGATGGAGGAAGGAAGGAAG	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A5_chr2_74211242_74348416	74220327	A A	AGTTGATC others(43): Show AGTTGATCTCTGATGTTAGCTTTGATGTTGATCTCTGATGTTAGCTTTGA T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0189 a0001c0001t0011g0189	1	277	0.0036	50	c.33 others(67): Show c.33+1106_*33+1107insATCAAAGCTAACATCAGAGATCAACATC AAAGCTAACATCAGAGATCAAC	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	30/30			chr2	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	167	0.0060	50	c.-25 others(67): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	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(43): Show TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03239.hp2 HG04199.hp2 others(2): Show HG03139.hp2 HG03239.hp2 HG04199.hp2 HG04228.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0020 a0001c0004t0136 a0001c0003t0020 a0001c0004t0136	a0001c0003t0020g0055 a0001c0003t0020g0133 a0001c0003t0020g0136 others(2): Show a0001c0003t0020g0055 a0001c0003t0020g0133 a0001c0003t0020g0136 a0001c0003t0020g0310 a0001c0004t0136g0360	5	67	0.0746	50	c.19 others(61): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(43): Show TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp2 NA18953.hp1 others(3): Show HG00423.hp1 HG00423.hp2 NA18953.hp1 NA18983.hp1 NA19001.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0001c0037 others(1): Show a0001c0002 a0001c0007 a0001c0037 a0003c0008	a0001c0002t0043 a0001c0007t0140 a0001c0037t0123 others(1): Show a0001c0002t0043 a0001c0007t0140 a0001c0037t0123 a0003c0008t0037	a0001c0002t0043g0116 a0001c0002t0043g0120 a0001c0007t0140g0371 others(3): Show a0001c0002t0043g0116 a0001c0002t0043g0120 a0001c0007t0140g0371 a0001c0037t0123g0354 a0003c0008t0037g0036 a0003c0008t0037g0042	6	68	0.0882	50	c.19 others(61): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(43): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0119 a0001c0005t0119	a0001c0005t0119g0066 a0001c0005t0119g0066	1	63	0.0159	50	c.19 others(61): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar

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