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
SLC43A3_chr11_57401954_57432121	57403478	A A	AAGAAGAA others(19): Show AAGAAGAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	327	0.0031	26	c.43 others(37): Show c.4313_*4314insCTTCTTCTTCTTCTTCTTCTTCTTCT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3475		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403539	G G	GAAGAAGA others(19): Show GAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	322	0.0031	26	c.42 others(37): Show c.4252_*4253insTTCTTCTTCTTCTTCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3414		chr11	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	42	0.0238	26	c.195 others(45): Show c.1950+1559_1950+1560insAAAAAAAAAAAAAAAATATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02129.hp2 HG01993.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0089 a0001c0001t0057g0093 a0001c0001t0001g0089 a0001c0001t0057g0093	2	43	0.0465	26	c.195 others(45): Show c.1950+1559_1950+1560insAAAAAAAAAAAATATATATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp1 HG02109.hp2 others(7): Show HG01109.hp2 HG01993.hp1 HG02109.hp2 HG02155.hp2 HG02559.hp1 HG02615.hp1 HG03139.hp2 NA18981.hp1 NA18982.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0027 a0001c0001t0030 a0001c0001t0048 a0001c0001t0049 a0001c0001t0060	a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0002g0112 others(7): Show a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0002g0112 a0001c0001t0018g0101 a0001c0001t0018g0103 a0001c0001t0027g0012 a0001c0001t0030g0017 a0001c0001t0048g0100 a0001c0001t0049g0091 a0001c0001t0060g0062	10	51	0.1961	26	c.195 others(45): Show c.1950+1559_1950+1560insAAAAAAAAAATATATATATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0106 a0001c0001t0062g0106	1	42	0.0238	26	c.195 others(45): Show c.1950+1559_1950+1560insAAAAAAAATATATATATATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A5_chr1_75197129_75616114	75238385	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	17	0.0588	26	c.656 others(41): Show c.656+102_656+127dupATATATATATATATATATATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	10/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75537033	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	73	0.0137	26	c.13+ others(41): Show c.13+4401_13+4402insATATATATATATATATATATATTTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331261	A A	AAAAAACA others(19): Show AAAAAACACTTTTAAAAAATATTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03927.hp2 HG02698.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	386	0.0052	26	c.144 others(43): Show c.1443+350_1443+351insTAAAAACACTTTTAAAAAATATTTTT	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331292	A A	ACACTTTT others(19): Show ACACTTTTAAAAAATATTTTTAAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0155 a0001c0008t0003g0155	1	386	0.0026	26	c.144 others(43): Show c.1443+381_1443+382insGCACTTTTAAAAAATATTTTTAAAAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331297	T T	TTTAAAAA others(19): Show TTTAAAAAATATTTTTAAAAAACACTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	386	0.0026	26	c.144 others(43): Show c.1443+386_1443+387insGTTAAAAAATATTTTTAAAAAACACT	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A2_chr5_33939623_33989693	33969065	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03516.hp2 HG02056.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0059 a0001c0003t0001g0142 a0001c0001t0001g0059 a0001c0003t0001g0142	2	107	0.0187	26	c.563 others(43): Show c.563-5050_563-5049insCACAGAGAGAGAGAGAGAGAGAGAGA	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A2_chr5_33939623_33989693	33969065	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	106	0.0094	26	c.563 others(43): Show c.563-5050_563-5049insCACACAGAGAGAGAGAGAGAGAGAGA	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A2_chr5_33939623_33989693	33969065	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0290 a0003c0004t0001g0290	1	106	0.0094	26	c.563 others(43): Show c.563-5050_563-5049insCACACACAGAGAGAGAGAGAGAGAGA	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A3_chr1_205652851_205685509	205683164	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	37	0.0270	26	c.-30 others(37): Show c.-3002_-3001insTGTGTGTGTGTGTGTGTGTGTGTGTG	SLC45A3	ENSG00000158715.6	transcript	ENST00000367145.4	protein_coding		2656		chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203465	A A	AGAGAGGG others(19): Show AGAGAGGGAGAGGGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0085 a0001c0003t0001g0026 a0001c0003t0001g0085	2	147	0.0136	26	c.81 others(37): Show c.8106_*8107insCCTCTCTCCCTCTCCCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3708		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(19): Show GGAGAGAGGGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0033 a0001c0028t0033	a0001c0028t0033g0020 a0001c0028t0033g0020	1	71	0.0141	26	c.80 others(37): Show c.8066_*8067insTCCCTCTCTCCCTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141311443	A A	AGTGTGTG others(19): Show AGTGTGTGTGCATGCGTGTGTGCATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02109.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0028 a0002c0001 a0001c0028 a0002c0001	a0001c0028t0033 a0002c0001t0001 a0001c0028t0033 a0002c0001t0001	a0001c0028t0033g0020 a0002c0001t0001g0021 a0001c0028t0033g0020 a0002c0001t0001g0021	2	186	0.0108	26	c.-37 others(37): Show c.-3749_-3748insATATGCACACACGCATGCACACACAC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3156		chr8	TogoVar
SLC46A2_chr9_112873920_112895876	112890776	C C	CGGAGCGC others(19): Show CGGAGCGCGAGTGTGCTCCGTGCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01074.hp1 others(12): Show HG00544.hp1 HG00639.hp1 HG01074.hp1 HG02486.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03540.hp2 HG06807.hp2 NA18944.hp2 NA18949.hp2 NA18972.hp2 NA18985.hp1 NA19074.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0002t0006 a0002c0004t0008	a0001c0001t0006g0036 a0001c0001t0006g0066 a0001c0001t0006g0067 others(8): Show a0001c0001t0006g0036 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0016g0069 a0001c0002t0006g0073 a0001c0002t0006g0074 a0002c0004t0008g0018 a0002c0004t0008g0072	15	366	0.0410	26	c.-12 others(34): Show c.-121_-96dupCGGCGCACGGAGCACACTCGCGCTCC	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding	1/4	96		chr9	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(19): Show AATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02622.hp2 HG02055.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0039 a0001c0001t0007g0185 a0001c0001t0004g0039 a0001c0001t0007g0185	3	330	0.0091	26	c.189 others(41): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC47A1_chr17_19528854_19584034	19540849	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	48	0.0208	26	c.136 others(43): Show c.136-1541_136-1516dupACACACACACACACACACACACACAC	SLC47A1	ENSG00000142494.13	transcript	ENST00000270570.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC4A10_chr2_161619416_161990270	161987840	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01109.hp2 others(16): Show HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp2 NA18943.hp2 NA18955.hp1 NA18992.hp1 NA18992.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0002 a0001c0005t0002	a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0058 others(16): Show a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0008g0088 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0065 a0001c0005t0002g0071	19	30	0.6333	26	c.46 others(37): Show c.4688_*4689insTATATATATATATATATATATATATA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding		2571		chr2	TogoVar
SLC4A4_chr4_71182259_71577083	71466931	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	77	0.0130	26	c.163 others(43): Show c.1631+363_1631+388dupAGAGAGAGAGAGAGAGAGAGAGAGAG	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71536461	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	147	0.0068	26	c.244 others(45): Show c.2442+2076_2442+2077insTATATATATATATATATATACACATA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71536485	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG04184.hp1 HG04184.hp2 others(1): Show HG02965.hp2 HG04184.hp1 HG04184.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0001t0001 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0005g0060 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0005g0060 a0001c0002t0004g0127	4	62	0.0645	26	c.244 others(45): Show c.2442+2099_2442+2100insATATATATATATATATATATATAAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71466931	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	109	0.0092	26	c.149 others(43): Show c.1499+363_1499+388dupAGAGAGAGAGAGAGAGAGAGAGAGAG	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536461	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	228	0.0044	26	c.231 others(45): Show c.2310+2076_2310+2077insTATATATATATATATATATACACATA	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536485	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02965.hp2 HG04184.hp1 others(4): Show HG01256.hp1 HG02965.hp2 HG04184.hp1 HG04184.hp2 NA18949.hp1 NA18962.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0185 a0001c0001t0006g0096 a0001c0002t0003g0173 a0001c0002t0005g0140	7	108	0.0648	26	c.231 others(45): Show c.2310+2099_2310+2100insATATATATATATATATATATATAAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A5_chr2_74211242_74348416	74290622	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0224 a0001c0003t0003g0224	1	164	0.0061	26	c.272 others(43): Show c.272-4746_272-4721dupTCTCTCTCTCTCTCTCTCTCTCTCTC	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	7/30			chr2	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	167	0.0060	26	c.-25 others(43): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAATATATATATATA	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(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG01261.hp2 others(4): Show HG00738.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 NA18952.hp1 NA18999.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 others(1): Show a0001c0001 a0002c0003 a0002c0005 a0002c0009	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0002c0009t0001	a0001c0001t0001g0225 a0001c0001t0001g0236 a0002c0003t0001g0172 others(4): Show a0001c0001t0001g0225 a0001c0001t0001g0236 a0002c0003t0001g0172 a0002c0003t0001g0178 a0002c0005t0001g0189 a0002c0005t0001g0231 a0002c0009t0001g0180	7	173	0.0405	26	c.-25 others(43): Show c.-25+3156_-25+3157insAAAAAAAAAAAATATATATATATATA	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(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18948.hp2 HG02895.hp1 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0002 a0002c0009t0001 a0001c0001t0002 a0002c0009t0001	a0001c0001t0002g0326 a0002c0009t0001g0181 a0001c0001t0002g0326 a0002c0009t0001g0181	2	168	0.0119	26	c.-25 others(43): Show c.-25+3156_-25+3157insAAAAAAAAAATATATATATATATATA	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(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	167	0.0060	26	c.-25 others(43): Show c.-25+3156_-25+3157insAAAAAAAATATATATATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24913947	G G	GCAAAAAA others(19): Show GCAAAAAAAAAAAAAAAATTATAAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	376	0.0027	26	c.24 others(37): Show c.2414_*2415insCAAAAAAAAAAAAAAAATTATAAACC	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		2322		chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24914095	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	29	0.0345	26	c.25 others(37): Show c.2562_*2563insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		2470		chr16	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(19): Show TTTTCTTTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00639.hp2 others(43): Show HG00280.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02027.hp1 HG02148.hp2 HG02300.hp2 HG02602.hp2 HG02895.hp2 HG02897.hp2 HG03491.hp2 HG04204.hp1 NA18942.hp2 NA18960.hp1 NA18962.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp2 NA18985.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19085.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0017 a0001c0030	a0001c0001t0002 a0001c0001t0014 a0001c0003t0008 others(5): Show a0001c0001t0002 a0001c0001t0014 a0001c0003t0008 a0001c0004t0015 a0001c0009t0098 a0001c0011t0014 a0001c0017t0015 a0001c0030t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0088 others(37): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0088 a0001c0001t0002g0219 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0323 a0001c0001t0014g0225 a0001c0001t0014g0277 a0001c0001t0014g0290 a0001c0001t0014g0309 a0001c0003t0008g0003 a0001c0003t0008g0023 a0001c0003t0008g0124 a0001c0003t0008g0140 a0001c0003t0008g0154 a0001c0003t0008g0177 a0001c0004t0015g0026 a0001c0004t0015g0338 a0001c0004t0015g0341 a0001c0004t0015g0347 a0001c0009t0098g0283 a0001c0011t0014g0113 a0001c0011t0014g0190 a0001c0017t0015g0353 a0001c0030t0002g0139	46	108	0.4259	26	c.19 others(37): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32213586	A A	ATATACAT others(19): Show ATATACATATATATCTATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	137	0.0073	26	c.49 others(37): Show c.4927_*4928insCATATATGTATAGATATATATGTATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4877		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32218079	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03225.hp1 HG01361.hp1 HG03225.hp1	a0004 a0006 a0004 a0006	a0004c0006 a0006c0008 a0004c0006 a0006c0008	a0004c0006t0001 a0006c0008t0001 a0004c0006t0001 a0006c0008t0001	a0004c0006t0001g0092 a0006c0008t0001g0132 a0004c0006t0001g0092 a0006c0008t0001g0132	2	216	0.0093	26	c.43 others(35): Show c.434_*435insAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		384		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239554	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18992.hp1 NA18974.hp2 NA18992.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0001 a0012c0016t0001 a0001c0001t0001 a0012c0016t0001	a0001c0001t0001g0186 a0012c0016t0001g0065 a0001c0001t0001g0186 a0012c0016t0001g0065	2	205	0.0098	26	c.478 others(41): Show c.478-465_478-464insAATATATATATATATATATATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC5A5_chr19_17866945_17900174	17892652	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	71	0.0141	26	c.176 others(45): Show c.1768-1040_1768-1015dupAGAGAGAGAGAGAGAGAGAGAGAGAG	SLC5A5	ENSG00000105641.4	transcript	ENST00000222248.4	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC5A8_chr12_101150493_101215238	101158598	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	190	0.0053	26	c.163 others(43): Show c.1631-271_1631-270insTATATATATATATATATAGAGAGAGA	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14			chr12	TogoVar
SLC5A8_chr12_101150493_101215238	101158598	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0165 a0002c0004t0002g0165	1	190	0.0053	26	c.163 others(43): Show c.1631-271_1631-270insTATATATAGAGAGAGAGAGAGAGAGA	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14			chr12	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG04184.hp2 others(11): Show HG00423.hp2 HG00558.hp2 HG04184.hp2 HG04204.hp1 NA18940.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp1 NA18982.hp1 NA18990.hp2 NA19002.hp1 NA19060.hp2 NA19066.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0082 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0180 a0001c0001t0006g0143	14	23	0.6087	26	c.183 others(45): Show c.1837+2263_1837+2264insGTGTATATATATATATATATATATAT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01952.hp1 HG02040.hp1 HG00673.hp2 HG01952.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0142 a0001c0001t0001g0051 a0001c0001t0001g0142	3	12	0.2500	26	c.183 others(45): Show c.1837+2263_1837+2264insGTGTGTATATATATATATATATATAT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19319605	G G	GTTTTTTT others(19): Show GTTTTTTTTTTGTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02572.hp2 others(5): Show HG01069.hp2 HG01071.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG03041.hp1 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 others(5): Show a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137	8	187	0.0428	26	c.164 others(43): Show c.164+1774_164+1775insGTTTTTTTTTTTGTTTTTTTTTTTTT	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19319605	G G	GTTTTTTT others(19): Show GTTTTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG03209.hp1 HG02615.hp1 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	182	0.0165	26	c.164 others(43): Show c.164+1774_164+1775insGTTTTTTTTTTTTTTTTTTTTTTTTT	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18951.hp1 NA19012.hp2 HG01167.hp2 NA18951.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0001t0001g0122	3	31	0.0968	26	c.354 others(39): Show c.354+85_354+86insATATATATATATTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01074.hp2 others(8): Show HG00323.hp1 HG01074.hp1 HG01074.hp2 HG02040.hp1 HG02451.hp1 HG02735.hp1 NA18747.hp2 NA18945.hp1 NA18962.hp1 NA18962.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0006g0009 a0001c0001t0006g0027 a0001c0001t0009g0051 a0001c0001t0011g0005 a0002c0002t0001g0005	11	39	0.2821	26	c.354 others(39): Show c.354+85_354+86insATATATATATTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(19): Show ATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18612.hp2 NA18906.hp1 HG02886.hp1 NA18612.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0025 a0001c0001t0005g0232 a0001c0001t0007g0013 a0001c0001t0001g0025 a0001c0001t0005g0232 a0001c0001t0007g0013	3	31	0.0968	26	c.354 others(39): Show c.354+85_354+86insATATATATTTTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(19): Show ATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03195.hp1 HG01928.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0095 a0001c0001t0007g0137 a0001c0001t0001g0095 a0001c0001t0007g0137	2	30	0.0667	26	c.354 others(39): Show c.354+85_354+86insATATATTTTTTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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