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
SLC39A11_chr17_72640949_73097688	73047990	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	97	0.0103	13	c.148 others(32): Show c.148-16277_148-16276insATATATATATTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73050462	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0060 a0002c0004t0001g0060	1	154	0.0065	13	c.148 others(32): Show c.148-18761_148-18749dupAAAAAAAAAAAAA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A12_chr10_17946918_18048285	18011896	T T	TTATTCAG others(6): Show TTATTCAGCAAATA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0199 a0002c0003t0001g0199	1	366	0.0027	13	c.194 others(32): Show c.1947+8539_1947+8551dupTATTCAGCAAATA	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18036786	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0233 a0001c0005t0003g0233	1	348	0.0029	13	c.194 others(32): Show c.1948-5918_1948-5917insTTTTTTTTTTTTT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18036794	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0288 a0003c0002t0001g0288	1	37	0.0270	13	c.194 others(32): Show c.1948-5900_1948-5899insTTTTTTTTTTTTT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18036795	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0010 a0002c0004t0006g0010	1	364	0.0027	13	c.194 others(32): Show c.1948-5910_1948-5909insATATATATATATA	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12			chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22396522	A A	AGGAGAGG others(6): Show AGGAGAGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	319	0.0031	13	c.-15 others(30): Show c.-15-8173_-15-8172insGAGAGGGGGGGGG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396537	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	292	0.0034	13	c.-15 others(30): Show c.-15-8159_-15-8158insAGAGAGAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396539	G G	GGGAGAGA others(6): Show GGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	257	0.0039	13	c.-15 others(30): Show c.-15-8156_-15-8155insGAGAGAGAGAGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A5_chr12_56225051_56242846	56226732	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(73): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02976.hp1 HG03017.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18971.hp1 NA18979.hp1 NA18988.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0009c0014 a0010c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0006t0001 a0009c0014t0001 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 a0001c0002t0001g0012 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0006t0001g0094 a0009c0014t0001g0007 a0010c0010t0001g0022	76	107	0.7103	13	c.-35 others(24): Show c.-3561_-3560insTTTTTTTTTTTTT	SLC39A5	ENSG00000139540.12	transcript	ENST00000454355.7	protein_coding		3318		chr12	TogoVar
SLC39A6_chr18_36103531_36134340	36106261	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00642.hp1 others(42): Show HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01192.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG02132.hp2 HG02273.hp2 HG02602.hp1 HG02738.hp1 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp2 NA18945.hp2 NA18949.hp2 NA18954.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19067.hp2 NA19078.hp1 NA19082.hp1 NA19086.hp2 NA19090.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0003g0075 a0001c0002t0003g0001 a0001c0002t0003g0011 a0001c0002t0003g0030 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0095	45	156	0.2885	13	c.33 others(24): Show c.3331_*3332insAAAAAAAAAAAAA	SLC39A6	ENSG00000141424.13	transcript	ENST00000269187.10	protein_coding		2269		chr18	TogoVar
SLC41A2_chr12_104796801_104963290	104892328	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02723.hp2 others(2): Show HG01257.hp2 HG01258.hp1 HG02723.hp2 HG03453.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0018 a0002c0004t0009 a0002c0004t0060 a0001c0001t0018 a0002c0004t0009 a0002c0004t0060	a0001c0001t0018g0327 a0002c0004t0009g0241 a0002c0004t0009g0243 others(2): Show a0001c0001t0018g0327 a0002c0004t0009g0241 a0002c0004t0009g0243 a0002c0004t0009g0247 a0002c0004t0060g0244	5	283	0.0177	13	c.735 others(30): Show c.735+2945_735+2946insGTTTTTTTTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	4/10			chr12	TogoVar
SLC43A2_chr17_1564268_1633834	1600153	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 NA18522.hp1 HG02615.hp1 HG02723.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0061 a0001c0001t0103 a0001c0001t0049 a0001c0001t0061 a0001c0001t0103	a0001c0001t0049g0242 a0001c0001t0061g0249 a0001c0001t0103g0241 a0001c0001t0049g0242 a0001c0001t0061g0249 a0001c0001t0103g0241	3	366	0.0082	13	c.502 others(30): Show c.502-6875_502-6874insTATATATATATAT	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1619903	G G	GGCTTACA others(6): Show GGCTTACAGGTGCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	380	0.0026	13	c.161 others(30): Show c.161-3135_161-3134insAGCACCTGTAAGC	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	2/13			chr17	TogoVar
SLC44A1_chr9_105239651_105402346	105354039	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02647.hp2 others(4): Show HG01243.hp2 HG02257.hp1 HG02647.hp2 HG02809.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0008 a0002c0002t0024 others(1): Show a0002c0002t0004 a0002c0002t0008 a0002c0002t0024 a0002c0002t0073	a0002c0002t0004g0004 a0002c0002t0004g0122 a0002c0002t0004g0130 others(4): Show a0002c0002t0004g0004 a0002c0002t0004g0122 a0002c0002t0004g0130 a0002c0002t0008g0129 a0002c0002t0024g0131 a0002c0002t0024g0139 a0002c0002t0073g0138	7	61	0.1148	13	c.501 others(30): Show c.501-2156_501-2144dupTTTTTTTTTTTTT	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387054	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0075 a0002c0002t0066g0075	1	132	0.0076	13	c.195 others(32): Show c.1950+1552_1950+1553insTATATATATATAT	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15			chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387058	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02165.hp2 HG02451.hp2 others(1): Show HG02004.hp2 HG02165.hp2 HG02451.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0034 a0001c0001t0056 others(1): Show a0001c0001t0012 a0001c0001t0034 a0001c0001t0056 a0001c0001t0061	a0001c0001t0012g0011 a0001c0001t0034g0036 a0001c0001t0056g0109 others(1): Show a0001c0001t0012g0011 a0001c0001t0034g0036 a0001c0001t0056g0109 a0001c0001t0061g0063	4	103	0.0388	13	c.195 others(32): Show c.1950+1556_1950+1557insTATATATATATAT	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15			chr9	TogoVar
SLC44A2_chr19_10620553_10649557	10633973	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0152 a0001c0006t0009g0153 a0001c0006t0009g0152 a0001c0006t0009g0153	2	82	0.0244	13	c.824 others(28): Show c.824-780_824-768dupTTTTTTTTTTTTT	SLC44A2	ENSG00000129353.15	transcript	ENST00000335757.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC44A2_chr19_10620553_10649557	10645353	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	111	0.0090	13	c.19 others(24): Show c.1968_*1969insTTTTTTTTTTTTT	SLC44A2	ENSG00000129353.15	transcript	ENST00000335757.10	protein_coding		797		chr19	TogoVar
SLC44A3_chr1_94815357_94900246	94888737	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02698.hp2 HG03130.hp2 others(1): Show HG02630.hp1 HG02698.hp2 HG03130.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0156 a0002c0002t0001g0025 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0156 a0002c0002t0001g0025 a0002c0002t0001g0248	4	28	0.1429	13	c.148 others(32): Show c.1483-2383_1483-2382insTTTTTTTTTTTTT	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A3_chr1_94815357_94900246	94889553	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03927.hp2 HG01257.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0316 a0001c0001t0001g0124 a0001c0001t0001g0316	2	225	0.0089	13	c.148 others(32): Show c.1483-1576_1483-1575insCACACACACACAA	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75300014	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	37	0.0270	13	c.175 others(28): Show c.175+585_175+597dupTTTTTTTTTTTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75444473	G G	GAAAGAAA others(6): Show GAAAGAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	152	0.0066	13	c.14- others(30): Show c.14-47853_14-47852insTTCTTCTTTCTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75537033	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	73	0.0137	13	c.13+ others(28): Show c.13+4401_13+4402insATATATATATTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203282	A A	AGAGAGAG others(6): Show AGAGAGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0036 a0001c0029t0036	a0001c0029t0036g0117 a0001c0029t0036g0117	1	184	0.0054	13	c.82 others(24): Show c.8289_*8290insCACGGTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3891		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203333	A A	AGAGAGAG others(6): Show AGAGAGAGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0033 a0001c0028t0033	a0001c0028t0033g0020 a0001c0028t0033g0020	1	170	0.0059	13	c.82 others(24): Show c.8238_*8239insCTCCCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3840		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203362	A A	AGAGAGAG others(6): Show AGAGAGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0060 a0002c0001t0001g0060	1	181	0.0055	13	c.82 others(24): Show c.8209_*8210insCACGGTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3811		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203446	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0016 a0001c0004t0004g0016	1	116	0.0086	13	c.81 others(24): Show c.8125_*8126insCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3727		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203453	G G	GAGAGAGG others(6): Show GAGAGAGGAAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG03486.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0026 a0001c0006t0009 a0001c0006t0026	a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007 a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007	4	183	0.0219	13	c.81 others(24): Show c.8118_*8119insTCTCTTCCTCTCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3720		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141301734	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02300.hp2 HG02735.hp1 others(3): Show HG02145.hp1 HG02300.hp2 HG02735.hp1 HG03834.hp2 NA18906.hp2 NA18948.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0017 others(2): Show a0001c0003 a0001c0004 a0001c0017 a0002c0001 a0003c0002	a0001c0003t0001 a0001c0003t0043 a0001c0004t0004 others(3): Show a0001c0003t0001 a0001c0003t0043 a0001c0004t0004 a0001c0017t0029 a0002c0001t0039 a0003c0002t0002	a0001c0003t0001g0004 a0001c0003t0043g0162 a0001c0004t0004g0016 others(3): Show a0001c0003t0001g0004 a0001c0003t0043g0162 a0001c0004t0004g0016 a0001c0017t0029g0054 a0002c0001t0039g0055 a0003c0002t0002g0157	6	24	0.2500	13	c.-40 others(32): Show c.-401+6349_-401+6361dupTTTTTTTTTTTTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC47A1_chr17_19528854_19584034	19552829	G G	GGCGTAAA others(6): Show GGCGTAAAGAGACT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	336	0.0030	13	c.543 others(30): Show c.543+1361_543+1362insGCGTAAAGAGACT	SLC47A1	ENSG00000142494.13	transcript	ENST00000270570.8	protein_coding	6/16			chr17	TogoVar
SLC4A2_chr7_151054589_151081523	151069140	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02723.hp1 HG03704.hp1 HG02523.hp1 HG02723.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0028 a0001c0004 a0001c0007 a0001c0028	a0001c0004t0001 a0001c0007t0001 a0001c0028t0001 a0001c0004t0001 a0001c0007t0001 a0001c0028t0001	a0001c0004t0001g0062 a0001c0007t0001g0138 a0001c0028t0001g0139 a0001c0004t0001g0062 a0001c0007t0001g0138 a0001c0028t0001g0139	3	25	0.1200	13	c.114 others(30): Show c.1148-800_1148-788dupAAAAAAAAAAAAA	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC4A4_chr4_71182259_71577083	71196834	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	7	0.1429	13	c.-2+ others(28): Show c.-2+9461_-2+9473dupAAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71267791	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0021 a0001c0009t0021	a0001c0009t0021g0024 a0001c0009t0021g0024	1	66	0.0152	13	c.253 others(32): Show c.253+12407_253+12419dupAAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71267794	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02056.hp1 HG02071.hp1 others(3): Show HG01123.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG04184.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0003g0151 a0001c0001t0005g0060 a0001c0001t0006g0112	6	150	0.0400	13	c.253 others(32): Show c.253+12407_253+12408insGAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71385191	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0021 a0001c0001t0002g0022	2	37	0.0541	13	c.731 others(32): Show c.731-12385_731-12384insATATATATATATT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71388533	T T	TATTATAT others(6): Show TATTATATTCATTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0011 a0001c0001t0003 a0001c0012t0011	a0001c0001t0003g0029 a0001c0012t0011g0030 a0001c0001t0003g0029 a0001c0012t0011g0030	2	131	0.0153	13	c.731 others(30): Show c.731-9041_731-9040insATATTCATTCATT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71466979	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	150	0.0067	13	c.163 others(30): Show c.1631+402_1631+403insAGAGAGAGAGAGA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	13/25			chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71385191	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0003 a0001c0001t0002g0004	2	51	0.0392	13	c.599 others(32): Show c.599-12385_599-12384insATATATATATATT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71385191	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	50	0.0200	13	c.599 others(32): Show c.599-12385_599-12384insATATATATATTTT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71385191	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	50	0.0200	13	c.599 others(32): Show c.599-12385_599-12384insATATTTTTTTTTT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71388533	T T	TATTATAT others(6): Show TATTATATTCATTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0014t0015 a0001c0001t0003 a0001c0014t0015	a0001c0001t0003g0214 a0001c0014t0015g0213 a0001c0001t0003g0214 a0001c0014t0015g0213	2	204	0.0098	13	c.599 others(30): Show c.599-9041_599-9040insATATTCATTCATT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71423079	C C	CTACCATT others(6): Show CTACCATTTCTAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	232	0.0043	13	c.676 others(32): Show c.676-17535_676-17534insCCATTTCTAGATA	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71466979	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	232	0.0043	13	c.149 others(30): Show c.1499+402_1499+403insAGAGAGAGAGAGA	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	10/22			chr4	TogoVar
SLC4A5_chr2_74211242_74348416	74229104	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02257.hp1 others(12): Show HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 NA18956.hp2 NA18987.hp2 NA19000.hp1 NA19062.hp1 NA19079.hp1 NA19079.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0002c0004 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0003t0001 a0001c0003t0005 a0001c0014t0001 a0002c0004t0003 a0002c0010t0004	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0199 others(12): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0199 a0001c0001t0002g0216 a0001c0001t0004g0156 a0001c0001t0005g0271 a0001c0001t0006g0236 a0001c0001t0011g0104 a0001c0001t0011g0161 a0001c0001t0011g0189 a0001c0003t0001g0233 a0001c0003t0005g0180 a0001c0014t0001g0264 a0002c0004t0003g0168 a0002c0010t0004g0106	15	98	0.1531	13	c.284 others(32): Show c.2848-1227_2848-1226insAAAAAAAAAAAAA	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	25/30			chr2	TogoVar
SLC4A5_chr2_74211242_74348416	74229116	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG01243.hp1 others(20): Show HG00597.hp2 HG01109.hp1 HG01243.hp1 HG01928.hp2 HG02055.hp2 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG03486.hp2 HG03669.hp1 HG03831.hp1 HG04184.hp1 NA18906.hp1 NA18949.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA19056.hp2 NA19086.hp1 NA19086.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0008 a0001c0001 a0002c0004 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0002c0004t0001 a0002c0008t0002	a0001c0001t0001g0081 a0001c0001t0002g0023 a0001c0001t0002g0053 others(20): Show a0001c0001t0001g0081 a0001c0001t0002g0023 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0147 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0007g0017 a0001c0001t0007g0157 a0001c0001t0008g0262 a0001c0001t0010g0003 a0001c0001t0010g0278 a0001c0001t0013g0020 a0001c0001t0019g0160 a0001c0001t0023g0056 a0001c0001t0027g0011 a0002c0004t0001g0105 a0002c0008t0002g0166	23	220	0.1045	13	c.284 others(32): Show c.2848-1239_2848-1238insCAAAAAAAAAAAA	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	25/30			chr2	TogoVar
SLC4A5_chr2_74211242_74348416	74241257	A A	ATTATTAT others(6): Show ATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0182 a0001c0001t0008g0182	1	280	0.0036	13	c.211 others(30): Show c.2118+724_2118+736dupATAATAATAATAA	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	20/30			chr2	TogoVar
SLC4A8_chr12_51419831_51520763	51491778	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0178 a0001c0002t0005g0178	1	341	0.0029	13	c.270 others(32): Show c.2700+1827_2700+1828insACACACACACACA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	19/24			chr12	TogoVar
SLC51A_chr3_196211534_196238427	196216643	C C	CCCCCACC others(6): Show CCCCCACCTGCCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0158 a0002c0002t0009g0158	1	426	0.0023	13	c.-65 others(20): Show c.-65_-53dupACCTGCCCGCCCC	SLC51A	ENSG00000163959.10	transcript	ENST00000296327.10	protein_coding	1/9	52	INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC51A_chr3_196211534_196238427	196226773	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0156 a0002c0003t0001g0156	1	168	0.0060	13	c.134 others(28): Show c.134-188_134-176dupAAAAAAAAAAAAA	SLC51A	ENSG00000163959.10	transcript	ENST00000296327.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar

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