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
SLC45A2_chr5_33939623_33989693	33969065	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01358.hp2 others(17): Show HG01074.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp2 NA18522.hp1 NA18999.hp2 NA19002.hp2 NA19079.hp1 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0042 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0149 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0355 a0001c0003t0001g0260 a0001c0003t0001g0314 a0003c0004t0001g0294	20	440	0.0455	20	c.563 others(37): Show c.563-5050_563-5049insCACAGAGAGAGAGAGAGAGA	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A3_chr1_205652851_205685509	205683164	C C	CCACACAC others(13): Show CCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18973.hp1 NA19078.hp1 HG02027.hp2 NA18973.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024	3	404	0.0074	20	c.-30 others(31): Show c.-3002_-3001insTGTGTGTGTGTGTGTGTGTG	SLC45A3	ENSG00000158715.6	transcript	ENST00000367145.4	protein_coding		2656		chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203178	G G	GGAGAGGA others(13): Show GGAGAGGAGACCGTGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0089 a0001c0004t0006g0089	1	188	0.0053	20	c.83 others(31): Show c.8393_*8394insTCTCTCCACGGTCTCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3995		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203280	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGACCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0119 a0002c0005t0007g0119	1	188	0.0053	20	c.82 others(31): Show c.8291_*8292insCCACGGTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3893		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141228476	T T	TGGGCACC others(13): Show TGGGCACCTGTCTTCACTGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02922.hp2 others(2): Show HG02145.hp2 HG02257.hp2 HG02922.hp2 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0013 a0001c0014 a0001c0029 a0001c0013 a0001c0014 a0001c0029	a0001c0013t0015 a0001c0014t0028 a0001c0014t0038 others(1): Show a0001c0013t0015 a0001c0014t0028 a0001c0014t0038 a0001c0029t0033	a0001c0013t0015g0024 a0001c0013t0015g0025 a0001c0014t0028g0030 others(2): Show a0001c0013t0015g0024 a0001c0013t0015g0025 a0001c0014t0028g0030 a0001c0014t0038g0106 a0001c0029t0033g0021	5	188	0.0266	20	c.242 others(37): Show c.242-6731_242-6712dupGCCAGTGAAGACAGGTGCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141269748	T T	TATGTCTG others(13): Show TATGTCTGTGTCTATCTCTGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	188	0.0053	20	c.-40 others(41): Show c.-400-15139_-400-15120dupGCAGAGATAGACACAGACAT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141301734	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0023 a0003c0002t0023	a0003c0002t0023g0096 a0003c0002t0023g0096	1	188	0.0053	20	c.-40 others(39): Show c.-401+6342_-401+6361dupTTTTTTTTTTTTTTTTTTTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(13): Show AATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03139.hp2 HG03453.hp1 others(2): Show HG00741.hp1 HG03139.hp2 HG03453.hp1 NA18953.hp2 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0009 a0003c0003t0004 a0001c0001t0004 a0001c0001t0009 a0003c0003t0004	a0001c0001t0004g0198 a0001c0001t0009g0040 a0003c0003t0004g0158 others(1): Show a0001c0001t0004g0198 a0001c0001t0009g0040 a0003c0003t0004g0158 a0003c0003t0004g0159	5	426	0.0117	20	c.189 others(35): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC47A1_chr17_19528854_19584034	19540849	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01978.hp2 HG02293.hp2 others(2): Show HG00438.hp1 HG01978.hp2 HG02293.hp2 NA18957.hp2 NA18998.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0016 a0001c0001 a0001c0002 a0007c0016	a0001c0001t0002 a0001c0002t0001 a0007c0016t0001 a0001c0001t0002 a0001c0002t0001 a0007c0016t0001	a0001c0001t0002g0298 a0001c0002t0001g0018 a0001c0002t0001g0160 others(2): Show a0001c0001t0002g0298 a0001c0002t0001g0018 a0001c0002t0001g0160 a0001c0002t0001g0175 a0007c0016t0001g0018	5	338	0.0148	20	c.136 others(37): Show c.136-1535_136-1516dupACACACACACACACACACAC	SLC47A1	ENSG00000142494.13	transcript	ENST00000270570.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC49A3_chr4_676829_694151	681595	C C	CCGCCGCC others(13): Show CCGCCGCCCCGCCCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01257.hp2 others(14): Show HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG01884.hp2 HG01975.hp2 HG02257.hp1 HG02647.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 NA18960.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0002g0003	17	412	0.0413	20	c.34 others(29): Show c.343_*362dupCTGGAGGGGGCGGGGCGGCG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		233		chr4	TogoVar
SLC49A3_chr4_676829_694151	681606	C C	CCCCCTGC others(13): Show CCCCCTGCAGCGCCGCCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02004.hp2 HG01069.hp2 HG01071.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0004 a0001c0001t0001g0008	3	412	0.0073	20	c.35 others(29): Show c.351_*352insAAGGGGCGGCGCTGCAGGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		222		chr4	TogoVar
SLC4A10_chr2_161619416_161990270	161660613	T T	TTTCTTCC others(13): Show TTTCTTCCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02738.hp2 NA19043.hp1 HG02451.hp2 HG02738.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0095	3	118	0.0254	20	c.48+ others(37): Show c.48+36052_48+36053insCCTTTCCTTCTTTCCTTCTT	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A10_chr2_161619416_161990270	161859276	T T	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	118	0.0085	20	c.578 others(37): Show c.578-3593_578-3574dupCTTTTCTTTTCTTTTCTTTT	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A10_chr2_161619416_161990270	161987840	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG03139.hp2 others(6): Show HG02257.hp1 HG02572.hp2 HG03139.hp2 HG03195.hp2 HG03579.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0002t0001g0002	9	118	0.0763	20	c.46 others(31): Show c.4688_*4689insTATATATATATATATATATA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding		2571		chr2	TogoVar
SLC4A2_chr7_151054589_151081523	151069140	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG00733.hp2 others(48): Show HG00099.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp2 HG02155.hp2 HG02896.hp2 HG03041.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18951.hp1 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19054.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0009 others(5): Show a0001c0003 a0001c0007 a0001c0009 a0001c0015 a0002c0001 a0002c0014 a0002c0019 a0002c0021	a0001c0003t0002 a0001c0007t0001 a0001c0009t0001 others(5): Show a0001c0003t0002 a0001c0007t0001 a0001c0009t0001 a0001c0015t0001 a0002c0001t0002 a0002c0014t0002 a0002c0019t0001 a0002c0021t0002	a0001c0003t0002g0024 a0001c0003t0002g0098 a0001c0007t0001g0136 others(19): Show a0001c0003t0002g0024 a0001c0003t0002g0098 a0001c0007t0001g0136 a0001c0009t0001g0022 a0001c0015t0001g0022 a0002c0001t0002g0002 a0002c0001t0002g0021 a0002c0001t0002g0149 a0002c0001t0002g0150 a0002c0001t0002g0151 a0002c0001t0002g0154 a0002c0001t0002g0163 a0002c0001t0002g0171 a0002c0001t0002g0172 a0002c0001t0002g0173 a0002c0001t0002g0175 a0002c0001t0002g0179 a0002c0001t0002g0194 a0002c0014t0002g0021 a0002c0014t0002g0174 a0002c0019t0001g0083 a0002c0021t0002g0002	51	406	0.1256	20	c.114 others(37): Show c.1148-788_1148-787insAAAAAAAAAAAAAAAAAAAA	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC4A2_chr7_151054589_151081523	151073252	C C	CTTTATTT others(13): Show CTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19067.hp1 NA19070.hp2 HG02622.hp2 NA19067.hp1 NA19070.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0001 a0001c0010t0001 a0001c0009t0001 a0001c0010t0001	a0001c0009t0001g0050 a0001c0010t0001g0059 a0001c0010t0001g0064 a0001c0009t0001g0050 a0001c0010t0001g0059 a0001c0010t0001g0064	3	406	0.0074	20	c.253 others(37): Show c.2536-769_2536-750dupTATTTTATTTTATTTTATTT	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC4A2_chr7_151054589_151081523	151073289	T T	TTATTTTA others(13): Show TTATTTTATTTTATTTTATTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 homoSapiens_chm13v2.hp1 HG01081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0085 a0001c0011t0004g0143 a0001c0011t0004g0085 a0001c0011t0004g0143	2	406	0.0049	20	c.253 others(37): Show c.2536-750_2536-749insTATTTTATTTTATTTTATTG	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	16/22			chr7	TogoVar
SLC4A2_chr7_151054589_151081523	151081250	C C	CCCCGGGG others(13): Show CCCCGGGGCGGCCCGGCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0135 a0001c0007t0001g0135	1	406	0.0025	20	c.48 others(31): Show c.4883_*4884insCCCGGGGCGGCCCGGCTCTG	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding		4728		chr7	TogoVar
SLC4A4_chr4_71182259_71577083	71311890	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	152	0.0066	20	c.254 others(39): Show c.254-27455_254-27436dupGAGAGAGAGAGAGAGAGAGA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71376156	T T	TATATACA others(13): Show TATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0074	1	152	0.0066	20	c.730 others(39): Show c.730+18970_730+18971insTATACACACACACACACACA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71443083	A A	ACTCTCTC others(13): Show ACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0138 a0001c0005t0005g0138	1	152	0.0066	20	c.965 others(37): Show c.965+2325_965+2344dupCTCTCTCTCTCTCTCTCTCT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71443116	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	152	0.0066	20	c.965 others(37): Show c.965+2344_965+2345insCTCTCTCTATATATATATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71536457	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18995.hp2 HG00438.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0006g0144 a0002c0003t0001g0076 a0001c0001t0006g0144 a0002c0003t0001g0076	2	152	0.0132	20	c.244 others(39): Show c.2442+2076_2442+2077insTATATATATATATATATATA	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(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02559.hp1 HG02809.hp1 others(2): Show HG00438.hp2 HG02559.hp1 HG02809.hp1 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0030 a0001c0002t0003	a0001c0001t0001g0145 a0001c0001t0002g0141 a0001c0001t0025g0089 others(2): Show a0001c0001t0001g0145 a0001c0001t0002g0141 a0001c0001t0025g0089 a0001c0001t0030g0038 a0001c0002t0003g0080	5	152	0.0329	20	c.244 others(39): Show c.2442+2099_2442+2100insATATATATATATATATAAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71376156	T T	TATATACA others(13): Show TATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0211 a0001c0006t0001g0211	1	234	0.0043	20	c.598 others(39): Show c.598+18970_598+18971insTATACACACACACACACACA	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443083	A A	ACTCTCTC others(13): Show ACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0212 a0001c0006t0006g0212	1	234	0.0043	20	c.833 others(37): Show c.833+2325_833+2344dupCTCTCTCTCTCTCTCTCTCT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443116	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	234	0.0043	20	c.833 others(37): Show c.833+2344_833+2345insCTCTCTCTATATATATATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71466931	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18970.hp1 HG02132.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0202 a0001c0001t0004g0081 a0001c0001t0001g0202 a0001c0001t0004g0081	2	234	0.0086	20	c.149 others(37): Show c.1499+369_1499+388dupAGAGAGAGAGAGAGAGAGAG	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536457	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01106.hp1 others(4): Show HG00438.hp1 HG00639.hp1 HG01106.hp1 HG01361.hp2 HG01975.hp1 HG01978.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 a0001c0003t0028 a0002c0004t0001	a0001c0001t0004g0083 a0001c0001t0004g0100 a0001c0003t0002g0017 others(4): Show a0001c0001t0004g0083 a0001c0001t0004g0100 a0001c0003t0002g0017 a0001c0003t0002g0034 a0001c0003t0004g0039 a0001c0003t0028g0032 a0002c0004t0001g0029	7	234	0.0299	20	c.231 others(39): Show c.2310+2076_2310+2077insTATATATATATATATATATA	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(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02083.hp1 HG02559.hp1 others(3): Show HG00438.hp2 HG02083.hp1 HG02559.hp1 HG02809.hp1 HG03490.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0002t0003	a0001c0001t0001g0009 a0001c0001t0009g0161 a0001c0001t0011g0015 others(3): Show a0001c0001t0001g0009 a0001c0001t0009g0161 a0001c0001t0011g0015 a0001c0001t0011g0132 a0001c0001t0014g0143 a0001c0002t0003g0141	6	234	0.0256	20	c.231 others(39): Show c.2310+2099_2310+2100insATATATATATATATATAAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536486	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	234	0.0043	20	c.231 others(39): Show c.2310+2099_2310+2100insATATATATATATATATATGT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A5_chr2_74211242_74348416	74264489	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG02572.hp2 others(8): Show HG00280.hp1 HG00408.hp1 HG02572.hp2 HG02965.hp2 NA18949.hp2 NA18977.hp2 NA18986.hp1 NA18987.hp1 NA19084.hp1 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0026	a0001c0001t0001g0084 a0001c0001t0001g0268 a0001c0001t0002g0009 others(8): Show a0001c0001t0001g0084 a0001c0001t0001g0268 a0001c0001t0002g0009 a0001c0001t0002g0043 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0116 a0001c0001t0023g0055 a0001c0001t0026g0107	11	282	0.0390	20	c.563 others(35): Show c.563-210_563-191dupACACACACACACACACACAC	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	9/30			chr2	TogoVar
SLC4A5_chr2_74211242_74348416	74290622	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18956.hp1 NA18975.hp1 others(4): Show HG03453.hp1 NA18956.hp1 NA18975.hp1 NA19007.hp2 NA19012.hp1 NA19087.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0016 a0003c0005t0002 a0001c0001t0002 a0001c0001t0016 a0003c0005t0002	a0001c0001t0002g0128 a0001c0001t0002g0145 a0001c0001t0002g0146 others(4): Show a0001c0001t0002g0128 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0016g0003 a0003c0005t0002g0252	7	282	0.0248	20	c.272 others(37): Show c.272-4740_272-4721dupTCTCTCTCTCTCTCTCTCTC	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	7/30			chr2	TogoVar
SLC4A8_chr12_51419831_51520763	51447052	G G	GTCTATCT others(13): Show GTCTATCTATCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG02145.hp2 others(12): Show HG00639.hp1 HG01978.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03490.hp2 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0003c0010t0013	a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 others(12): Show a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0014g0015 a0001c0001t0014g0016 a0001c0001t0014g0103 a0003c0010t0013g0077	15	358	0.0419	20	c.131 others(37): Show c.131-3821_131-3820insATCTATCTGTCTATCTATCT	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51491740	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18966.hp2 NA18962.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0169 a0001c0002t0005g0175 a0001c0002t0005g0169 a0001c0002t0005g0175	2	358	0.0056	20	c.270 others(39): Show c.2700+1808_2700+1827dupACACACACACACACACACAC	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A9_chr5_140355194_140380141	140377222	T T	TCACACAC others(13): Show TCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01109.hp2 others(12): Show HG00639.hp2 HG00738.hp2 HG01109.hp2 HG01243.hp2 HG01346.hp1 HG02165.hp2 HG03139.hp2 HG03492.hp1 HG04115.hp2 NA18950.hp1 NA18988.hp2 NA19002.hp1 NA19005.hp1 NA19064.hp1 NA19067.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0007c0011	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0007t0001g0005 a0007c0011t0001g0001	15	396	0.0379	20	c.24 others(31): Show c.2441_*2442insCACACACACACACACACACA	SLC4A9	ENSG00000113073.15	transcript	ENST00000506757.7	protein_coding		2082		chr5	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18998.hp1 NA18983.hp2 NA18998.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0227 a0002c0003t0001g0228	2	378	0.0053	20	c.-25 others(37): Show c.-25+3156_-25+3157insAAAAAAAATATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24905640	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	378	0.0027	20	c.100 others(39): Show c.1007-1016_1007-1015insGCGCGCGCGCGCGCGCACAC	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24914095	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	378	0.0027	20	c.25 others(31): Show c.2562_*2563insTTTTTTTTTTTTTTTTTTTT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		2470		chr16	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0107 a0001c0011t0107	a0001c0011t0107g0269 a0001c0011t0107g0269	1	412	0.0024	20	c.18 others(31): Show c.1895_*1914dupGAAAGAAAGAAAGAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680306	T T	TATATATA others(13): Show TATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0088 a0009c0029t0088	a0009c0029t0088g0120 a0009c0029t0088g0120	1	412	0.0024	20	c.147 others(37): Show c.1475+748_1475+749insGTATATATATACATATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680306	T T	TATATATA others(13): Show TATATATATGTATATATATTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG00741.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0299 a0001c0001t0003g0274 a0001c0001t0003g0299	2	412	0.0049	20	c.147 others(37): Show c.1475+748_1475+749insGAATATATATACATATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26700506	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp2 HG02109.hp2 others(16): Show HG01346.hp2 HG01496.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0008 a0001c0012 others(2): Show a0001c0005 a0001c0008 a0001c0012 a0001c0033 a0004c0025	a0001c0005t0011 a0001c0005t0035 a0001c0005t0055 others(7): Show a0001c0005t0011 a0001c0005t0035 a0001c0005t0055 a0001c0005t0057 a0001c0005t0118 a0001c0005t0119 a0001c0008t0001 a0001c0012t0028 a0001c0033t0070 a0004c0025t0078	a0001c0005t0011g0006 a0001c0005t0011g0007 a0001c0005t0011g0047 others(12): Show a0001c0005t0011g0006 a0001c0005t0011g0007 a0001c0005t0011g0047 a0001c0005t0011g0048 a0001c0005t0035g0009 a0001c0005t0035g0073 a0001c0005t0055g0074 a0001c0005t0055g0075 a0001c0005t0057g0008 a0001c0005t0118g0069 a0001c0005t0119g0070 a0001c0008t0001g0058 a0001c0012t0028g0065 a0001c0033t0070g0046 a0004c0025t0078g0091	19	412	0.0461	20	c.822 others(37): Show c.822-1991_822-1972dupATTTATTTATTTATTTATTT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	6/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26720324	C C	CATAAATA others(13): Show CATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0315 a0001c0002t0073g0315	1	412	0.0024	20	c.339 others(37): Show c.339+1032_339+1051dupTTATTTATTTATTTATTTAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	1/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26726156	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0057 a0001c0015t0001g0057	1	412	0.0024	20	c.-44 others(31): Show c.-4443_-4442insGAAGGAAGGAAGGAAGGAAG	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding		4097		chr11	TogoVar
SLC5A1_chr22_32038261_32118029	32099103	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	252	0.0040	20	c.128 others(35): Show c.1281-79_1281-78insTATATATATATATATATATA	SLC5A1	ENSG00000100170.10	transcript	ENST00000266088.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC5A3_chr21_34068578_34111260	34068818	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0015g0189 a0001c0001t0015g0190	2	344	0.0058	20	c.-52 others(31): Show c.-5264_-5263insAAAAAAAAAAAAAAAAAAAG	SLC5A3	ENSG00000198743.7	transcript	ENST00000381151.5	protein_coding		4759		chr21	TogoVar
SLC5A4_chr22_32213464_32260347	32218079	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0084 a0004c0010t0001g0084	1	302	0.0033	20	c.43 others(29): Show c.434_*435insAAAAAAAAAAAAAAAAAAAA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		384		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239529	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	302	0.0033	20	c.478 others(35): Show c.478-440_478-439insTTATATATATATATATATAT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239554	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18947.hp2 NA19005.hp2 HG01081.hp1 NA18947.hp2 NA19005.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0019 a0001c0001 a0009c0019	a0001c0001t0001 a0009c0019t0001 a0001c0001t0001 a0009c0019t0001	a0001c0001t0001g0142 a0001c0001t0001g0181 a0009c0019t0001g0188 a0001c0001t0001g0142 a0001c0001t0001g0181 a0009c0019t0001g0188	3	302	0.0099	20	c.478 others(35): Show c.478-465_478-464insAATATATATATATATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar

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