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
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(45): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0013 a0013	a0013c0041 a0013c0041	a0013c0041t0001 a0013c0041t0001	a0013c0041t0001g0178 a0013c0041t0001g0178	1	160	0.0063	52	c.130 others(71): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(45): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02886.hp1 NA18952.hp2 others(1): Show HG00733.hp1 HG02886.hp1 NA18952.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0269 a0001c0001t0017g0128 a0001c0002t0002g0268 others(1): Show a0001c0001t0001g0269 a0001c0001t0017g0128 a0001c0002t0002g0268 a0001c0002t0003g0129	4	231	0.0173	52	c.130 others(71): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(45): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00642.hp1 others(52): Show HG00438.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02896.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03491.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18961.hp2 NA18965.hp1 NA18977.hp2 NA18979.hp2 NA18987.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp2 NA19058.hp1 NA19064.hp2 NA19070.hp2 NA19078.hp2 NA19083.hp2 NA19085.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0002 a0001c0036 others(8): Show a0001c0001 a0001c0002 a0001c0036 a0001c0039 a0001c0048 a0001c0049 a0003c0014 a0003c0017 a0003c0050 a0003c0051 a0013c0041	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0036t0003 a0001c0039t0008 a0001c0048t0007 a0001c0049t0006 a0003c0014t0005 a0003c0014t0006 a0003c0017t0004 a0003c0050t0009 a0003c0051t0001 a0013c0041t0001	a0001c0001t0001g0032 a0001c0001t0001g0111 a0001c0001t0001g0113 others(51): Show a0001c0001t0001g0032 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0002t0002g0086 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0152 a0001c0002t0002g0159 a0001c0002t0002g0250 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0273 a0001c0002t0003g0003 a0001c0002t0003g0109 a0001c0002t0004g0174 a0001c0002t0004g0265 a0001c0002t0005g0126 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0002t0005g0253 a0001c0002t0007g0248 a0001c0036t0003g0243 a0001c0039t0008g0298 a0001c0048t0007g0020 a0001c0049t0006g0021 a0003c0014t0005g0196 a0003c0014t0005g0198 a0003c0014t0006g0197 a0003c0017t0004g0010 a0003c0050t0009g0104 a0003c0051t0001g0077 a0013c0041t0001g0178	55	214	0.2570	52	c.130 others(71): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB5_chr7_20610667_20762008	20681034	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTT CTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0123 a0002c0012t0001g0123	1	347	0.0029	52	c.170 others(69): Show c.1708-468_1708-467insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTTTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0015 a0001c0008t0009g0015	1	104	0.0096	52	c.49- others(67): Show c.49-7977_49-7976insCTCTCTCTCTCTCTCTCTCTCTCTCTGTCT CTTTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0127 a0002c0010t0002g0127	1	104	0.0096	52	c.49- others(67): Show c.49-7977_49-7976insCTCTCTCTCTGTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(45): Show ATATACACATATACACACACATATGTGTATATACACATACACACACATAT GTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0001 a0022c0020t0001	a0022c0020t0001g0309 a0022c0020t0001g0309	1	200	0.0050	52	c.209 others(71): Show c.2094+1385_2094+1386insCACATATACACACACATATGTGTATA TACACATACACACACATATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(45): Show ATATACACATATACACACACATATGTGTATATACACATATACACACATAT GTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(12): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp2 HG01175.hp1 HG01346.hp2 HG02602.hp1 HG02735.hp2 HG02922.hp2 HG03209.hp2 HG03688.hp2 HG03831.hp2 NA18983.hp1 NA19043.hp1 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0002c0003t0001g0006 others(11): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0002c0003t0001g0006 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0248 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0254 a0002c0003t0001g0289 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0313	15	214	0.0701	52	c.209 others(71): Show c.2094+1385_2094+1386insCACATATACACACACATATGTGTATA TACACATATACACACATATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814568	C C	CACACACA others(45): Show CACACACATATGTGTATATACACATATACACACATATGTGTATATACACA TAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00735.hp2 others(43): Show HG00558.hp2 HG00673.hp1 HG00735.hp2 HG01123.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02735.hp1 HG03239.hp2 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0025 a0026 a0001 a0025 a0026	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0027 a0001c0038 a0025c0037 a0026c0025	a0001c0001t0001 a0001c0002t0003 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0005t0001 a0001c0027t0001 a0001c0038t0001 a0025c0037t0001 a0026c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0143 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0275 a0001c0002t0003g0207 a0001c0005t0001g0003 a0001c0005t0001g0172 a0001c0027t0001g0147 a0001c0038t0001g0141 a0025c0037t0001g0201 a0026c0025t0001g0158	46	325	0.1415	52	c.209 others(71): Show c.2094+1457_2094+1458insTATGTGTATATACACATATACACACA TATGTGTATATACACATATACACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814646	T T	TACACACA others(45): Show TACACACACATATGTGTATATACACATACACACACATATATGTGTATATA CAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	331	0.0030	52	c.209 others(71): Show c.2094+1503_2094+1504insCACACACATATGTGTATATACACATA CACACACATATATGTGTATATACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838522	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	320	0.0031	52	c.361 others(71): Show c.3614+2238_3614+2239insGGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0023 a0001c0014t0001g0130 a0001c0014t0001g0023 a0001c0014t0001g0130	2	239	0.0084	52	c.361 others(71): Show c.3614+2662_3614+2663insAGGGGGGCAGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(45): Show TTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	273	0.0037	52	c.259 others(69): Show c.2599+323_2599+324insTTCTTTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95196582	G G	GAGGAAGG others(45): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0001 a0003c0029t0001	a0003c0029t0001g0217 a0003c0029t0001g0217	1	57	0.0175	52	c.116 others(71): Show c.1162-1697_1162-1646dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	168	0.0060	52	c.842 others(67): Show c.842-199_842-198insTATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0249 a0002c0002t0002g0249	1	117	0.0085	52	c.-11 others(63): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0347 a0001c0005t0004g0347	1	117	0.0085	52	c.-11 others(63): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	117	0.0085	52	c.-11 others(63): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02258.hp1 HG01993.hp1 HG02258.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0008 a0001c0005 a0005c0008	a0001c0005t0004 a0005c0008t0002 a0001c0005t0004 a0005c0008t0002	a0001c0005t0004g0264 a0005c0008t0002g0221 a0001c0005t0004g0264 a0005c0008t0002g0221	2	118	0.0169	52	c.-11 others(63): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG04184.hp2 HG01952.hp1 HG04184.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0002 a0001c0001t0001 a0005c0008t0002	a0001c0001t0001g0246 a0005c0008t0002g0010 a0001c0001t0001g0246 a0005c0008t0002g0010	2	118	0.0169	52	c.-11 others(63): Show c.-1192_-1191insAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02738.hp2 HG03927.hp1 HG01099.hp2 HG02738.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0002 a0002c0004t0002 a0001c0001t0001 a0002c0002t0002 a0002c0004t0002	a0001c0001t0001g0145 a0002c0002t0002g0139 a0002c0004t0002g0090 a0001c0001t0001g0145 a0002c0002t0002g0139 a0002c0004t0002g0090	3	199	0.0151	52	c.-11 others(63): Show c.-1149_-1148insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT TTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG04228.hp1 HG01175.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0159 a0001c0002t0002g0148 a0001c0002t0002g0159	2	94	0.0213	52	c.422 others(67): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(45): Show GTATATATATATATATGTATATATATATATATATATATATATATATATGT GTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	84	0.0119	52	c.837 others(69): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATATATATGTGTAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(45): Show GTATATATATATATATGTATATATATATATATATATATATATATGTGTAT ATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0047 a0001c0001t0009g0047	1	84	0.0119	52	c.837 others(69): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATATGTGTATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(45): Show GTATATATATATATATGTATATATATATATATATATATATATGTGTATAT ATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	84	0.0119	52	c.837 others(69): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATGTGTATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GTATATAT others(45): Show GTATATATATATATGTATATATATATATATATATATATATGTGTATATAT ATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	39	0.0256	52	c.837 others(69): Show c.837+1398_837+1399insATATATATATATGTATATATATATATAT ATATATATATGTGTATATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABR_chr17_998519_1184981	1045378	G G	GTCTTCTT others(45): Show GTCTTCTTACAGCAGGACAATCTTCCATCTTCTTATAGCAGGACAATCTT CCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0101 a0001c0009t0018g0101	1	328	0.0030	52	c.179 others(71): Show c.1791+4671_1791+4672insTGGAAGATTGTCCTGCTATAAGAAGA TGGAAGATTGTCCTGCTGTAAGAAGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109209995	A A	ACACACAT others(45): Show ACACACATACATGCATGTGTGTATATATGTGTATATATACACACATACGT ATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0011 a0001c0016t0011	a0001c0016t0011g0272 a0001c0016t0011g0272	1	301	0.0033	52	c.324 others(69): Show c.3249+642_3249+643insCACACATACATGCATGTGTGTATATATG TGTATATATACACACATACGTATG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACADS_chr12_120720826_120745008	120741271	T T	TCTGCAGA others(45): Show TCTGCAGAAGTTTGGGTCCCTGGGCTTTCCTCCTGGCTCCAGGTAAGTGC CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	422	0.0024	52	c.18 others(63): Show c.1823_*1824insCTGCAGAAGTTTGGGTCCCTGGGCTTTCCTCCTG GCTCCAGGTAAGTGCCGC	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding		1264		chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	265	0.0038	52	c.51 others(63): Show c.5106_*5107insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	262	0.0038	52	c.50 others(63): Show c.5014_*5015insACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288569	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	268	0.0037	52	c.49 others(63): Show c.4994_*4995insACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3821		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288607	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	272	0.0037	52	c.49 others(63): Show c.4956_*4957insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288627	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	273	0.0037	52	c.49 others(63): Show c.4936_*4937insACGGGGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3763		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288813	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	269	0.0037	52	c.47 others(63): Show c.4750_*4751insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3577		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288813	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	269	0.0037	52	c.47 others(63): Show c.4750_*4751insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3577		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288857	C C	CTCTGCTC others(45): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0008 a0001c0001t0001g0062	2	293	0.0068	52	c.47 others(63): Show c.4706_*4707insCACGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3533		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288923	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	275	0.0036	52	c.46 others(63): Show c.4640_*4641insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3467		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	262	0.0038	52	c.45 others(63): Show c.4528_*4529insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	262	0.0038	52	c.45 others(63): Show c.4528_*4529insACGGAGCAGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	262	0.0038	52	c.45 others(63): Show c.4528_*4529insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	266	0.0038	52	c.44 others(63): Show c.4490_*4491insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289093	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	267	0.0037	52	c.44 others(63): Show c.4470_*4471insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3297		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289167	C C	CCCTGTGT others(45): Show CCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	272	0.0037	52	c.43 others(63): Show c.4396_*4397insACGGAGCAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACAGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3223		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289167	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	272	0.0037	52	c.43 others(63): Show c.4396_*4397insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3223		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289167	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0166	1	272	0.0037	52	c.43 others(63): Show c.4396_*4397insACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3223		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	272	0.0037	52	c.43 others(63): Show c.4376_*4377insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	273	0.0037	52	c.43 others(63): Show c.4338_*4339insACGGAGCAGAGACACGGGACGGAGCAGACACGGG GGACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	273	0.0037	52	c.43 others(63): Show c.4338_*4339insACGGAGCAGACACGGGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	260	0.0038	52	c.43 others(63): Show c.4300_*4301insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar

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