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
SLC25A6_chrX_1381152_1397113	1392962	C C	CCCTCCCG others(28): Show CCCTCCCGCCTCCCTCCTCCCGCCTCCCGCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02809.hp2 others(1): Show HG02055.hp1 HG02109.hp1 HG02809.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0043 a0001c0002t0001g0002 a0001c0002t0001g0043	4	185	0.0216	35	c.-95 others(44): Show c.-954_-953insAGGGAGGCGGGAGGCGGGAGGAGGGAGGCGGGAGG	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		850		chrX	TogoVar
SLC2A13_chr12_39750025_40111081	39760953	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02723.hp1 NA18992.hp1 HG00639.hp1 HG02723.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0003g0062 a0001c0001t0003g0183 a0001c0001t0001g0036 a0001c0001t0003g0062 a0001c0001t0003g0183	3	4	0.7500	35	c.172 others(52): Show c.1721-702_1721-701insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTG	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	9/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39812337	T T	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03041.hp2 HG02895.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0130 a0001c0001t0011g0201 a0001c0001t0001g0130 a0001c0001t0011g0201	2	83	0.0241	35	c.144 others(56): Show c.1445+17731_1445+17765dupGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(28): Show CCTTCCTTCCTTCCTTTCTTTCTTTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0169 a0002c0001t0002g0169	1	220	0.0045	35	c.864 others(50): Show c.864+641_864+642insAAAGAAAGAAAAAAGAAAGAAAGGAAGGAA GGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747466	C C	CAGGGGGT others(28): Show CAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	35	c.44 others(46): Show c.4476_*4477insAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGG G	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3417		chr20	TogoVar
SLC2A9_chr4_9821224_10026497	9950892	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02056.hp2 HG03669.hp2 others(2): Show HG01981.hp1 HG02056.hp2 HG03669.hp2 NA19000.hp2 NA19057.hp1	a0004 a0008 a0004 a0008	a0004c0003 a0008c0010 a0004c0003 a0008c0010	a0004c0003t0001 a0008c0010t0001 a0004c0003t0001 a0008c0010t0001	a0004c0003t0001g0061 a0004c0003t0001g0090 a0004c0003t0001g0093 others(2): Show a0004c0003t0001g0061 a0004c0003t0001g0090 a0004c0003t0001g0093 a0004c0003t0001g0128 a0008c0010t0001g0119	5	259	0.0193	35	c.682 others(52): Show c.682-8848_682-8847insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	5/11			chr4	TogoVar
SLC35B3_chr6_8406435_8440545	8409469	A A	AATTATAT others(28): Show AATTATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	59	0.0169	35	c.40 others(46): Show c.4079_*4080insATATATATATATATATATATATATATATATATAA T	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding		1965		chr6	TogoVar
SLC35B3_chr6_8406435_8440545	8409469	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	59	0.0169	35	c.40 others(46): Show c.4079_*4080insATATATATATATATATATATATATATATATATAT A	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding		1965		chr6	TogoVar
SLC35B3_chr6_8406435_8440545	8439066	C C	CCCTCCCT others(28): Show CCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	62	0.0161	35	c.-38 others(46): Show c.-3818_-3817insAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG G	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding		3522		chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234139951	T T	TAATAAAA others(28): Show TAATAAAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	3	41	0.0732	35	c.284 others(54): Show c.284-91449_284-91415dupATAAAATAAAATAAAATAAAATAAAA TAAAATAAA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234146505	T T	TTTTTTTT others(28): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02559.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0155 a0001c0002t0002g0138 a0001c0001t0003g0155 a0001c0002t0002g0138	2	155	0.0129	35	c.284 others(54): Show c.284-84912_284-84911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC35F4_chr14_57558920_57871092	57590226	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	105	0.0095	35	c.290 others(50): Show c.290-714_290-713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	2/7			chr14	TogoVar
SLC39A11_chr17_72640949_73097688	73004219	G G	GGAAAGAA others(28): Show GGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02523.hp2 HG02622.hp1 HG01099.hp2 HG02523.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0061 a0002c0002t0002g0019 a0001c0001t0001g0008 a0001c0001t0001g0061 a0002c0002t0002g0019	3	176	0.0170	35	c.306 others(54): Show c.306+27336_306+27337insTCTTTCTTTCTTTCTTTCTTTCCTTT CTTTCTTTC	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20129.hp2 HG02109.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0012 a0003c0003t0006 a0001c0001t0012 a0003c0003t0006	a0001c0001t0012g0138 a0003c0003t0006g0006 a0001c0001t0012g0138 a0003c0003t0006g0006	2	57	0.0351	35	c.306 others(54): Show c.306+27323_306+27324insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73026187	G G	GAGAGAAG others(28): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(20): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG01243.hp2 HG01255.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp1 HG02451.hp1 HG02717.hp2 HG03041.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA18982.hp2 NA18999.hp1 NA18999.hp2 NA19064.hp2 NA19065.hp1 NA20129.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0003c0003 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0006t0007 a0001c0008t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0006c0013t0001	a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0156 others(20): Show a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0002g0147 a0001c0001t0003g0056 a0001c0001t0004g0107 a0001c0001t0004g0134 a0001c0001t0004g0173 a0001c0001t0005g0088 a0001c0001t0008g0100 a0001c0001t0008g0153 a0001c0001t0012g0138 a0001c0006t0007g0102 a0001c0008t0001g0070 a0001c0008t0001g0117 a0001c0008t0001g0140 a0003c0003t0001g0055 a0003c0003t0001g0116 a0003c0003t0002g0074 a0003c0003t0006g0006 a0006c0013t0001g0130	23	33	0.6970	35	c.306 others(52): Show c.306+5368_306+5369insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A12_chr10_17946918_18048285	17971258	G G	GCCCCTCC others(28): Show GCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG02135.hp1 others(2): Show HG01070.hp2 HG01192.hp1 HG02135.hp1 HG02148.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0001g0112 a0001c0001t0002g0051 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0112 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0247	5	179	0.0279	35	c.751 others(52): Show c.751+5574_751+5608dupCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22423786	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03834.hp1 NA18942.hp1 HG00735.hp2 HG03834.hp1 NA18942.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0001 a0001c0005 a0003c0001	a0001c0005t0003 a0003c0001t0001 a0001c0005t0003 a0003c0001t0001	a0001c0005t0003g0182 a0003c0001t0001g0095 a0003c0001t0001g0109 a0001c0005t0003g0182 a0003c0001t0001g0095 a0003c0001t0001g0109	3	124	0.0242	35	c.40 others(46): Show c.4088_*4089insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding		1051		chr8	TogoVar
SLC41A1_chr1_205784095_205818198	205802719	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	47	0.0213	35	c.373 others(52): Show c.373-1694_373-1660dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	SLC41A1	ENSG00000133065.11	transcript	ENST00000367137.4	protein_coding	2/10			chr1	TogoVar
SLC41A2_chr12_104796801_104963290	104958274	T T	TGCGGCCC others(28): Show TGCGGCCCCAAGCTGACAGCCCGGCCGTCGGCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0064 a0001c0003t0064	a0001c0003t0064g0378 a0001c0003t0064g0378	1	384	0.0026	35	c.-38 others(44): Show c.-389_-355dupGGGCGCCGACGGCCGGGCTGTCAGCTTGGGGCCGC	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	1/11	29748		chr12	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0176 a0001c0001t0042g0176	1	232	0.0043	35	c.502 others(52): Show c.502-6874_502-6873insATATATATATATATATATATATATATAT ATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18963.hp2 HG00597.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0086 a0001c0001t0032 a0001c0001t0086	a0001c0001t0032g0080 a0001c0001t0086g0005 a0001c0001t0032g0080 a0001c0001t0086g0005	2	233	0.0086	35	c.502 others(52): Show c.502-6874_502-6873insAAAAATATATATATATATATATATATAT ATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0307 a0001c0001t0010g0307	1	232	0.0043	35	c.502 others(52): Show c.502-6874_502-6873insAAAAAAATATATATATATATATATATAT ATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01934.hp1 HG01978.hp1 others(1): Show HG00408.hp1 HG01934.hp1 HG01978.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0347 others(1): Show a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0347 a0001c0001t0010g0030	4	235	0.0170	35	c.502 others(52): Show c.502-6874_502-6873insAAAAAAAAATATATATATATATATATAT ATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01978.hp2 HG00639.hp1 HG01175.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0122 a0001c0001t0004 a0001c0001t0014 a0001c0001t0122	a0001c0001t0004g0359 a0001c0001t0014g0317 a0001c0001t0122g0314 a0001c0001t0004g0359 a0001c0001t0014g0317 a0001c0001t0122g0314	3	234	0.0128	35	c.502 others(52): Show c.502-6874_502-6873insAAAAAAAAAAATATATATATATATATAT ATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403533	G G	GAAGAAGA others(28): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02071.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	2	325	0.0062	35	c.42 others(46): Show c.4258_*4259insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3420		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403536	G G	GAAGAAGA others(28): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01258.hp1 NA19089.hp1 HG00558.hp2 HG01258.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0006 a0001c0001t0017 a0001c0010t0006 a0001c0001t0006 a0001c0001t0017 a0001c0010t0006	a0001c0001t0006g0012 a0001c0001t0017g0122 a0001c0010t0006g0119 a0001c0001t0006g0012 a0001c0001t0017g0122 a0001c0010t0006g0119	3	328	0.0091	35	c.42 others(46): Show c.4255_*4256insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3417		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403539	G G	GAAGAAGA others(28): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	322	0.0031	35	c.42 others(46): Show c.4252_*4253insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3414		chr11	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03669.hp1 HG01099.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0084 a0002c0002t0009g0097 a0002c0002t0009g0084 a0002c0002t0009g0097	2	43	0.0465	35	c.195 others(54): Show c.1950+1559_1950+1560insAAAAAAAAATATATATATATATATAT ATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(28): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19079.hp1 NA20300.hp2 HG02895.hp1 NA19079.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0040 a0001c0002t0001g0030 a0001c0002t0001g0209 a0001c0001t0003g0040 a0001c0002t0001g0030 a0001c0002t0001g0209	3	7	0.4286	35	c.144 others(52): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A2_chr5_33939623_33989693	33974981	T T	TGTCATTG others(28): Show TGTCATTGTCACTGAGTTGGGGACTTTAGAATCTAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG02145.hp2 others(5): Show HG01074.hp2 HG01261.hp1 HG02145.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0094	8	438	0.0183	35	c.562 others(52): Show c.562+7220_562+7254dupTTAGATTCTAAAGTCCCCAACTCAGTGA CAATGAC	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141247260	A A	ATACTACT others(28): Show ATACTACTCTATAGAACGATGAACAACCAGAAATGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp1 others(24): Show HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG01258.hp1 HG01515.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02258.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18945.hp1 NA18948.hp1 NA18994.hp2 NA19000.hp2 NA19055.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0009 others(7): Show a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0023 a0001c0030 a0002c0001 a0003c0002 a0003c0011 a0003c0012	a0001c0003t0001 a0001c0003t0043 a0001c0003t0045 others(16): Show a0001c0003t0001 a0001c0003t0043 a0001c0003t0045 a0001c0004t0006 a0001c0004t0018 a0001c0009t0011 a0001c0010t0001 a0001c0023t0018 a0001c0030t0003 a0002c0001t0001 a0002c0001t0003 a0002c0001t0042 a0002c0001t0044 a0003c0002t0002 a0003c0002t0040 a0003c0002t0041 a0003c0011t0001 a0003c0011t0003 a0003c0012t0002	a0001c0003t0001g0064 a0001c0003t0043g0162 a0001c0003t0045g0179 others(24): Show a0001c0003t0001g0064 a0001c0003t0043g0162 a0001c0003t0045g0179 a0001c0004t0006g0089 a0001c0004t0018g0185 a0001c0009t0011g0102 a0001c0010t0001g0153 a0001c0023t0018g0175 a0001c0030t0003g0172 a0002c0001t0001g0065 a0002c0001t0001g0074 a0002c0001t0001g0086 a0002c0001t0001g0090 a0002c0001t0001g0150 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0003g0168 a0002c0001t0042g0165 a0002c0001t0044g0180 a0003c0002t0002g0039 a0003c0002t0002g0156 a0003c0002t0002g0157 a0003c0002t0040g0169 a0003c0002t0041g0161 a0003c0011t0001g0058 a0003c0011t0003g0174 a0003c0012t0002g0128	27	186	0.1452	35	c.241 others(52): Show c.241+6694_241+6728dupCCATTTCTGGTTGTTCATCGTTCTATAG AGTAGTA	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC46A2_chr9_112873920_112895876	112895496	T T	TCATTCAT others(28): Show TCATTCATCATCTGTCCATCCACCCATTTACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	444	0.0023	35	c.-48 others(46): Show c.-4816_-4815insGGTGGGTAAATGGGTGGATGGACAGATGATGAAT G	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding		4621		chr9	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(28): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01978.hp1 HG03471.hp1 others(3): Show HG01081.hp1 HG01978.hp1 HG03471.hp1 NA18959.hp2 NA18975.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026	a0001c0001t0004g0016 a0001c0001t0007g0161 a0001c0001t0026g0162 a0001c0001t0004g0016 a0001c0001t0007g0161 a0001c0001t0026g0162	6	333	0.0180	35	c.189 others(50): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC4A2_chr7_151054589_151081523	151069140	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0186 a0001c0003t0002g0186	1	23	0.0435	35	c.114 others(52): Show c.1148-788_1148-787insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0188 a0002c0003t0001g0188	1	167	0.0060	35	c.-25 others(52): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAAAATATATATATAT ATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0192 a0002c0005t0001g0192	1	167	0.0060	35	c.-25 others(52): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAATATATATATATAT ATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A12_chr11_26662020_26727060	26669155	C C	CTCCTTTT others(28): Show CTCCTTTTTCTTTCTTTCTTTCTTCTTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA19002.hp1 NA18978.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0092 a0001c0002t0046g0093 a0001c0002t0046g0092 a0001c0002t0046g0093	2	364	0.0055	35	c.19 others(46): Show c.1946_*1947insAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAAAGG A	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1946		chr11	TogoVar
SLC5A5_chr19_17866945_17900174	17892139	C C	CAAAAATT others(28): Show CAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	412	0.0024	35	c.176 others(54): Show c.1767+1139_1767+1173dupAAAAATTAGCCGGGCATGGTGGCGTG TGCCTGTAA	SLC5A5	ENSG00000105641.4	transcript	ENST00000222248.4	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC5A9_chr1_48217716_48253638	48227217	T T	TCAGTGTG others(28): Show TCAGTGTGTGTGTGTGTAGTGTGCCTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp1 others(36): Show HG00423.hp1 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01255.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02818.hp1 HG03831.hp2 NA18943.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18967.hp1 NA18973.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19091.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0018c0015 a0002c0002 a0018c0015	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0018c0015t0003	a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0003g0012 others(33): Show a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0003g0012 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0307 a0002c0002t0007g0238 a0018c0015t0003g0210	39	418	0.0933	35	c.235 others(52): Show c.235-1633_235-1632insCAGTGTGTGTGTGTGTAGTGTGCCTGTG TGTGTGA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	2/13			chr1	TogoVar
SLC6A11_chr3_10811228_10945714	10873548	T T	TCCTATGG others(28): Show TCCTATGGCATGCTATCCTATCCTACCCTACCCTAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp1 others(7): Show HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG02559.hp1 HG02559.hp2 HG03453.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0017 a0001c0001 a0001c0002 a0003c0017	a0001c0001t0006 a0001c0002t0002 a0003c0017t0001 others(1): Show a0001c0001t0006 a0001c0002t0002 a0003c0017t0001 a0003c0017t0007	a0001c0001t0006g0021 a0001c0002t0002g0001 a0001c0002t0002g0017 others(6): Show a0001c0001t0006g0021 a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0003c0017t0001g0203 a0003c0017t0007g0342	10	293	0.0341	35	c.757 others(52): Show c.757-1409_757-1408insTGGCATGCTATCCTATCCTACCCTACCC TACCCTA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A18_chr5_1220381_1251189	1229997	T T	TGGTGCAG others(28): Show TGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0097 a0001c0005t0002g0097	1	356	0.0028	35	c.161 others(52): Show c.161-2199_161-2165dupAGAAGAGCTCTCAGGTGCAGGCTGGAGG TGGGGGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1229961	C C	CGGTGCAG others(28): Show CGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0141 a0001c0008t0004g0141	1	424	0.0024	35	c.80 others(46): Show c.8057_*8058insGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTCTC A	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding		4851		chr5	TogoVar
SLC6A1_chr3_10987748_11044247	11029987	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0318 a0001c0001t0007g0318	1	432	0.0023	35	c.132 others(52): Show c.1323+637_1323+638insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	174	0.0057	35	c.278 others(52): Show c.278-1287_278-1286insAAATATATATATATATATATATATATAT ATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0023 a0001c0001t0067g0023	1	174	0.0057	35	c.278 others(52): Show c.278-1287_278-1286insAAAAATATATATATATATATATATATAT ATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	174	0.0057	35	c.278 others(52): Show c.278-1287_278-1286insAAAAAAAAATATATATATATATATATAT ATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0016 a0004c0013t0016	a0004c0013t0016g0163 a0004c0013t0016g0163	1	174	0.0057	35	c.278 others(52): Show c.278-1287_278-1286insAAAAAAAAAAATATATATATATATATAT ATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	338	0.0030	35	c.278 others(52): Show c.278-1288_278-1287insTATATATATATATATATATATATATATA TATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A4_chr22_21023718_21037561	21035848	G G	GTTGGGAT others(28): Show GTTGGGATTATAGAGTATATTGCCTTTTCAGGCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	440	0.0023	35	c.-33 others(46): Show c.-3359_-3358insGAAGCCTGAAAAGGCAATATACTCTATAATCCCA A	SLC7A4	ENSG00000099960.13	transcript	ENST00000382932.3	protein_coding		3288		chr22	TogoVar
SLC7A5_chr16_87825023_87874507	87872945	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA20129.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0045 a0001c0002t0010 a0001c0002t0045	a0001c0002t0010g0041 a0001c0002t0045g0035 a0001c0002t0010g0041 a0001c0002t0045g0035	2	380	0.0053	35	c.-35 others(46): Show c.-3524_-3523insAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA A	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3439		chr16	TogoVar

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