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
SLC31A2_chr9_113146007_113169140	113156264	T T	TATAAGGA others(30): Show TATAAGGAAGTCCGGCAAATCCTTTTCCCTCTTCATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0073 a0001c0002t0012g0073	1	456	0.0022	37	c.7-1 others(50): Show c.7-1456_7-1455insAGTCCGGCAAATCCTTTTCCCTCTTCATACAT AAGGA	SLC31A2	ENSG00000136867.11	transcript	ENST00000259392.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC35E2B_chr1_1656478_1697795	1672150	G G	GCCCAAGG others(30): Show GCCCAAGGGTTCAAGAACAGGGCTGAGCAAAGGTGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0105 a0001c0001t0007g0105	1	346	0.0029	37	c.587 others(52): Show c.587-522_587-521insTCTCACCTTTGCTCAGCCCTGTTCTTGAAC CCTTGGG	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding	5/9			chr1	TogoVar
SLC35F4_chr14_57558920_57871092	57586717	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	69	0.0145	37	c.587 others(54): Show c.587+2498_587+2499insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	3/7			chr14	TogoVar
SLC35G4_chr18_11604596_11615612	11613942	G G	GGTAAGGA others(30): Show GGTAAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(93): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03225.hp1 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA20752.hp1	a0002 a0012 a0014 a0002 a0012 a0014	a0002c0002 a0002c0005 a0012c0013 others(1): Show a0002c0002 a0002c0005 a0012c0013 a0014c0014	a0002c0002t0001 a0002c0005t0001 a0012c0013t0001 others(1): Show a0002c0002t0001 a0002c0005t0001 a0012c0013t0001 a0014c0014t0001	a0002c0002t0001g0000 a0002c0005t0001g0000 a0012c0013t0001g0000 others(1): Show a0002c0002t0001g0000 a0002c0005t0001g0000 a0012c0013t0001g0000 a0014c0014t0001g0000	96	351	0.2735	37	c.33 others(48): Show c.3330_*3331insGTAAGGAGCGCCTCTGCCCGGCCGCCCCATCTGG GAT	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		3331		chr18	TogoVar
SLC35G4_chr18_11604596_11615612	11613942	G G	GGTGAGGA others(30): Show GGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG03139.hp2 others(2): Show HG01884.hp2 HG02630.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp2	a0011 a0019 a0011 a0019	a0011c0012 a0019c0017 a0011c0012 a0019c0017	a0011c0012t0001 a0019c0017t0001 a0011c0012t0001 a0019c0017t0001	a0011c0012t0001g0000 a0019c0017t0001g0000 a0011c0012t0001g0000 a0019c0017t0001g0000	5	260	0.0192	37	c.33 others(48): Show c.3330_*3331insGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGG GAT	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		3331		chr18	TogoVar
SLC35G4_chr18_11604596_11615612	11613942	G G	GGTGAGGA others(30): Show GGTGAGGAGCGCCTCTGCCCGGCTGCCCCATCTGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG02572.hp2 HG02886.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0000 a0013c0016t0001g0000	2	257	0.0078	37	c.33 others(48): Show c.3330_*3331insGTGAGGAGCGCCTCTGCCCGGCTGCCCCATCTGG GAT	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		3331		chr18	TogoVar
SLC38A3_chr3_50200271_50226486	50218523	T T	TGTAGGAG others(30): Show TGTAGGAGGTCGAGTCTGCATGCCATCCACAGTGTTAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	344	0.0029	37	c.103 others(52): Show c.1037-70_1037-69insGTAGGAGGTCGAGTCTGCATGCCATCCACA GTGTTAG	SLC38A3	ENSG00000188338.15	transcript	ENST00000614032.5	protein_coding	12/15			chr3	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGGAAA others(30): Show AAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02129.hp2 HG02717.hp1 others(3): Show HG02040.hp2 HG02129.hp2 HG02717.hp1 HG03927.hp1 NA18971.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0022 a0003c0003 a0001c0001 a0001c0022 a0003c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0022t0001 a0003c0003t0001 a0003c0003t0005	a0001c0001t0001g0015 a0001c0001t0010g0162 a0001c0001t0020g0154 others(3): Show a0001c0001t0001g0015 a0001c0001t0010g0162 a0001c0001t0020g0154 a0001c0022t0001g0175 a0003c0003t0001g0131 a0003c0003t0005g0028	6	61	0.0984	37	c.306 others(56): Show c.306+27323_306+27324insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73047990	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	97	0.0103	37	c.148 others(56): Show c.148-16277_148-16276insATATATATATATATATATATATATAT TTTTTTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	232	0.0043	37	c.502 others(54): Show c.502-6874_502-6873insAAAAATATATATATATATATATATATAT ATATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02602.hp1 HG01361.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0300 a0001c0002t0007g0343 a0001c0001t0001g0300 a0001c0002t0007g0343	2	233	0.0086	37	c.502 others(54): Show c.502-6874_502-6873insAAAAAAATATATATATATATATATATAT ATATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0007 a0001c0002t0084g0007	1	232	0.0043	37	c.502 others(54): Show c.502-6874_502-6873insAAAAAAAAATATATATATATATATATAT ATATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403435	A A	AAAGAAGA others(30): Show AAAGAAGAAGAAGAGAGAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	140	0.0071	37	c.43 others(48): Show c.4356_*4357insCTTCTTCTTCTTCTTCTTCTTCTCTCTTCTTCTT CTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3518		chr11	TogoVar
SLC44A4_chr6_31858192_31883997	31882519	G G	GGGGGTCA others(30): Show GGGGGTCAGAGGAGGCTGGCTGCTCAGCTGCAGGAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	432	0.0023	37	c.-35 others(48): Show c.-3540_-3539insTATTCCTGCAGCTGAGCAGCCAGCCTCCTCTGAC CCC	SLC44A4	ENSG00000204385.13	transcript	ENST00000229729.11	protein_coding		3523		chr6	TogoVar
SLC44A4_chr6_31858192_31883997	31882531	C C	CGGCTGGC others(30): Show CGGCTGGCTGCTCAGCTGCAGGAATAGGGGTCAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	386	0.0026	37	c.-35 others(48): Show c.-3588_-3552dupTCCTCTGACCCCTATTCCTGCAGCTGAGCAGCCA GCC	SLC44A4	ENSG00000204385.13	transcript	ENST00000229729.11	protein_coding		3535		chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(30): Show GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01074.hp1 others(2): Show HG00323.hp1 HG00738.hp1 HG01074.hp1 HG01433.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0060 a0002c0001t0001g0091 a0002c0001t0001g0094 others(2): Show a0002c0001t0001g0060 a0002c0001t0001g0091 a0002c0001t0001g0094 a0002c0001t0001g0096 a0002c0001t0001g0097	5	171	0.0292	37	c.80 others(48): Show c.8049_*8050insTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(30): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	328	0.0030	37	c.189 others(52): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC47A2_chr17_19673317_19721584	19718618	T T	TTTTCTTC others(30): Show TTTTCTTCGGGAAGACACTCTCCTCCTACACTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	364	0.0027	37	c.-21 others(48): Show c.-2100_-2064dupGAGAGGAGTGTAGGAGGAGAGTGTCTTCCCGAAG AAA	SLC47A2	ENSG00000180638.19	transcript	ENST00000433844.4	protein_coding		2035		chr17	TogoVar
SLC52A3_chr20_755080_773500	764527	C C	CCCCCACC others(30): Show CCCCCACCTAAGGGGAGAATCCCCACCTAAGGGGAGAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0186 a0003c0010t0001g0186	1	464	0.0022	37	c.568 others(52): Show c.568-525_568-524insCTCTCCCCTTAGGTGGGGATTCTCCCCTTA GGTGGGG	SLC52A3	ENSG00000101276.18	transcript	ENST00000645534.1	protein_coding	2/4			chr20	TogoVar
SLC66A2_chr18_79897420_79956653	79919512	A A	AGGAACCA others(30): Show AGGAACCAAGGGAGAGGTCAAGCTCAGTGGGGAGAGAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp1 HG02071.hp2 others(15): Show HG00558.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02602.hp2 HG03834.hp2 HG04184.hp1 NA18939.hp2 NA18960.hp2 NA18972.hp2 NA18981.hp1 NA18994.hp1 NA18998.hp1 NA19012.hp2 NA19063.hp1 NA19064.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0041	a0001c0001t0003g0010 a0001c0001t0003g0290 a0001c0001t0003g0291 others(14): Show a0001c0001t0003g0010 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0311 a0001c0001t0003g0317 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0012g0292 a0001c0001t0012g0327 a0001c0001t0016g0031 a0001c0001t0022g0334 a0001c0001t0041g0328	18	346	0.0520	37	c.392 others(52): Show c.392-113_392-112insATCTCTCCCCACTGAGCTTGACCTCTCCCT TGGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919942	G G	GGAGAGGT others(30): Show GGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19090.hp2 NA18943.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0058 a0001c0001t0001g0093	2	272	0.0074	37	c.392 others(52): Show c.392-543_392-542insACTCGGTTCCGTCTCTCCCCACTGAGCTTG ACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919998	G G	GAGGAGAG others(30): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	344	0.0029	37	c.392 others(52): Show c.392-599_392-598insACTGACCTTGACCTCTCACTCGGTTCCTGT CTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920123	C C	CGGAACCA others(30): Show CGGAACCAAGTGAGAGGTCAAGCTCAGTGGGGAGAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0298 a0001c0001t0011g0298	1	199	0.0050	37	c.392 others(52): Show c.392-724_392-723insATCTCTCCCCACTGAGCTTGACCTCTCACT TGGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920189	G G	GGGGAGAG others(30): Show GGGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	340	0.0029	37	c.392 others(52): Show c.392-790_392-789insACTGACCCTGACCTCTCCCTCGGTTCCCGT CTCTCCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920400	G G	GGAGAGGT others(30): Show GGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0013 a0001c0001t0025g0013	1	298	0.0034	37	c.392 others(54): Show c.392-1001_392-1000insACTCGGTTCCGTCTCTCCCCACTGAGCT TGACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920410	A A	AGCTCAGT others(30): Show AGCTCAGTGGGGAGAGATGGAACCAAGTGAGAGGTCAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	253	0.0040	37	c.392 others(54): Show c.392-1011_392-1010insCTGACCTCTCACTTGGTTCCATCTCTCC CCACTGAGC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920629	G G	GGAGAGGT others(30): Show GGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0023 a0001c0001t0001g0024	2	324	0.0062	37	c.392 others(54): Show c.392-1230_392-1229insACTCGGTTCCGTCTCTCCCCACTGAGCT TGACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920963	G G	GGAACCGA others(30): Show GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	235	0.0043	37	c.392 others(54): Show c.392-1564_392-1563insTGTCTCTCCTCACTGACCTTGACCTCTC ACTCGGTTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921268	G G	GGAACCGA others(30): Show GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18948.hp1 NA18971.hp1 HG03195.hp1 NA18948.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0213 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0213	3	204	0.0147	37	c.392 others(54): Show c.392-1869_392-1868insTGTCTCTCCTCACTGACCTTGACCTCTC ACTCGGTTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921393	G G	GGAGAGGT others(30): Show GGAGAGGTCAAGGTCAGTGGGGAGAGATGGAACCGAGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0278 a0001c0001t0021g0278	1	312	0.0032	37	c.392 others(54): Show c.392-1994_392-1993insACTCGGTTCCATCTCTCCCCACTGACCT TGACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921671	A A	AGGTCAGT others(30): Show AGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0275 a0001c0001t0007g0275	1	284	0.0035	37	c.392 others(54): Show c.392-2272_392-2271insCTGACCTCTCCCTCGGTTCCGTCTCTCC TCACTGACC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A3_chr2_11150467_11183856	11165270	G G	GCCGGGCG others(30): Show GCCGGGCGGAGACGCTCCTCACCTCCCAGACGGGGTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01192.hp1 others(13): Show HG00639.hp2 HG01123.hp1 HG01192.hp1 HG01358.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0223 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0010g0208	16	397	0.0403	37	c.354 others(54): Show c.354+1010_354+1011insCGGGCGGAGACGCTCCTCACCTCCCAGA CGGGGTCAC	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11165270	G G	GCCGGGCG others(30): Show GCCGGGCGGAGATGCTCCTCACCTCCCAGACGGGGTCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02965.hp2 others(2): Show HG02559.hp2 HG02572.hp1 HG02965.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0247 a0001c0001t0004g0011 a0001c0001t0004g0247	5	386	0.0130	37	c.354 others(54): Show c.354+1010_354+1011insCGGGCGGAGATGCTCCTCACCTCCCAGA CGGGGTCAC	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A18_chr5_1220381_1251189	1238235	T T	TAGGAAAG others(30): Show TAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0064 a0002c0001t0002g0064	1	359	0.0028	37	c.732 others(52): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238320	A A	ATCAGGTT others(30): Show ATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0053 a0001c0009t0002g0053	1	354	0.0028	37	c.732 others(52): Show c.732+275_732+311dupAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238335	A A	AGCCTGGG others(30): Show AGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG03927.hp2 others(11): Show HG00544.hp1 HG00609.hp1 HG03927.hp2 NA18747.hp2 NA18945.hp1 NA18959.hp1 NA18963.hp1 NA18972.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18998.hp2 NA19011.hp2 NA19081.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0003 a0004c0041 others(1): Show a0002c0001 a0004c0003 a0004c0041 a0004c0043	a0002c0001t0001 a0002c0001t0002 a0004c0003t0003 others(2): Show a0002c0001t0001 a0002c0001t0002 a0004c0003t0003 a0004c0041t0003 a0004c0043t0003	a0002c0001t0001g0067 a0002c0001t0001g0275 a0002c0001t0001g0305 others(11): Show a0002c0001t0001g0067 a0002c0001t0001g0275 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0314 a0002c0001t0001g0319 a0002c0001t0002g0064 a0004c0003t0003g0001 a0004c0003t0003g0036 a0004c0003t0003g0197 a0004c0003t0003g0198 a0004c0041t0003g0001 a0004c0043t0003g0037	14	409	0.0342	37	c.732 others(52): Show c.732+349_732+385dupGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238506	A A	ATCAGGTT others(30): Show ATCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	440	0.0023	37	c.732 others(52): Show c.732+464_732+500dupCAGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGAGC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238525	A A	AGGGGCCT others(30): Show AGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0262 a0009c0011t0001g0262	1	294	0.0034	37	c.732 others(52): Show c.732+501_732+537dupTTGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGAGC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238562	T T	TGGGGCCT others(30): Show TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0300 a0002c0001t0001g0300	1	452	0.0022	37	c.732 others(52): Show c.732+539_732+575dupAGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGAGCC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238642	A A	ACTCAGGA others(30): Show ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(36): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02647.hp2 HG02717.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 NA18944.hp1 NA18952.hp1 NA18975.hp2 NA18985.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19087.hp2	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0008 a0010 a0013	a0001c0002 a0001c0005 a0001c0029 others(5): Show a0001c0002 a0001c0005 a0001c0029 a0006c0021 a0007c0007 a0008c0049 a0010c0012 a0013c0018	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0029t0002 a0006c0021t0004 a0007c0007t0002 a0008c0049t0004 a0010c0012t0004 a0013c0018t0004	a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0354 others(23): Show a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0354 a0001c0002t0002g0003 a0001c0002t0002g0028 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0136 a0001c0002t0002g0312 a0001c0002t0002g0333 a0001c0005t0001g0140 a0001c0029t0002g0253 a0006c0021t0004g0034 a0006c0021t0004g0170 a0007c0007t0002g0003 a0007c0007t0002g0019 a0007c0007t0002g0026 a0007c0007t0002g0050 a0007c0007t0002g0055 a0007c0007t0002g0074 a0007c0007t0002g0080 a0007c0007t0002g0318 a0008c0049t0004g0239 a0010c0012t0004g0217 a0013c0018t0004g0013 a0013c0018t0004g0203	39	326	0.1196	37	c.732 others(52): Show c.732+593_732+594insCATCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A1_chr3_10987748_11044247	11029987	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0319 a0001c0001t0014g0319	1	432	0.0023	37	c.132 others(54): Show c.1323+635_1323+636insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15			chr3	TogoVar
SLC6A1_chr3_10987748_11044247	11029991	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18975.hp1 NA19072.hp1 others(1): Show HG03041.hp2 NA18975.hp1 NA19072.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0032	a0001c0001t0004g0306 a0001c0001t0006g0050 a0001c0001t0007g0311 others(1): Show a0001c0001t0004g0306 a0001c0001t0006g0050 a0001c0001t0007g0311 a0001c0001t0032g0197	4	270	0.0148	37	c.132 others(54): Show c.1323+639_1323+640insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29559045	A A	AGTGAGGG others(30): Show AGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAAT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	328	0.0030	37	c.-11 others(56): Show c.-114-5186_-114-5185insATTCACTCCCCCCTCATTCAGATTCA CTCCCCCTCAC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559107	G G	GGGGGGAG others(30): Show GGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 NA18906.hp2 others(1): Show HG02559.hp2 HG03225.hp2 NA18906.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0003g0079 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0003g0079 a0001c0001t0003g0081	4	305	0.0131	37	c.-11 others(56): Show c.-114-5248_-114-5247insTTCAGATTCACTCTGCCTCACTCACA TTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559247	G G	GGGGGGAG others(30): Show GGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0236 a0001c0004t0006g0236	1	319	0.0031	37	c.-11 others(56): Show c.-114-5388_-114-5387insTTCAGATTCACTCTGCCTCACTCACA TTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CACACACG others(30): Show CACACACGACACACACACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	331	0.0030	37	c.149 others(54): Show c.1491+173_1491+174insGACACACACACACACGACACACACACAC ACGACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03942.hp2 HG02976.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0015 a0001c0001t0020g0124 a0001c0001t0003g0015 a0001c0001t0020g0124	2	42	0.0476	37	c.646 others(56): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666114	C C	CGCCCCCC others(30): Show CGCCCCCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	421	0.0024	37	c.127 others(54): Show c.1277-266_1277-265insGCCCCCCCGCCCCCCCCCTTCCCCTTCC CCTTCCCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11			chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(30): Show GCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01943.hp1 HG02523.hp2 others(2): Show HG00733.hp1 HG01943.hp1 HG02523.hp2 HG02698.hp1 HG02922.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0004c0005t0002	a0001c0001t0001g0339 a0001c0001t0003g0067 a0001c0001t0003g0187 others(2): Show a0001c0001t0001g0339 a0001c0001t0003g0067 a0001c0001t0003g0187 a0002c0002t0003g0139 a0004c0005t0002g0180	5	143	0.0350	37	c.127 others(54): Show c.1277-261_1277-260insCCCCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(30): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	241	0.0041	37	c.150 others(56): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar

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