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
ABTB3_chr12_107313434_107664642	107654832	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0009	a0004c0005t0009g0094 a0004c0005t0009g0094	1	186	0.0054	10	c.310 others(29): Show c.3106-2668_3106-2667insGCACACACAC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49787260	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02622.hp2 HG01884.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0018 a0001c0001t0019	a0001c0001t0018g0143 a0001c0001t0018g0144 a0001c0001t0019g0142 a0001c0001t0018g0143 a0001c0001t0018g0144 a0001c0001t0019g0142	3	223	0.0135	10	c.954 others(23): Show c.954+21_954+30dupTTTTTTTTTT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	8/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49801785	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03195.hp1 HG02293.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0107 a0001c0001t0003g0333 a0001c0001t0001g0107 a0001c0001t0003g0333	2	48	0.0417	10	c.183 others(25): Show c.183+892_183+901dupATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02698.hp1 HG03130.hp1 others(4): Show HG00735.hp2 HG02698.hp1 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG04184.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011	a0001c0001t0003 a0001c0003t0003 a0001c0007t0003 others(1): Show a0001c0001t0003 a0001c0003t0003 a0001c0007t0003 a0001c0011t0019	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0003t0003g0092 others(4): Show a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0003t0003g0092 a0001c0003t0003g0238 a0001c0003t0003g0279 a0001c0007t0003g0068 a0001c0011t0019g0033	7	176	0.0398	10	c.59 others(21): Show c.5992_*5993insACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37119589	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	36	0.0278	10	c.627 others(29): Show c.6274+1756_6274+1765dupGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp2 HG02257.hp1 others(7): Show HG00733.hp1 HG01358.hp2 HG02257.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0004t0005 a0001c0004t0030 a0001c0004t0032	a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0002g0034 others(7): Show a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0002g0034 a0001c0003t0003g0092 a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 a0001c0004t0005g0277 a0001c0004t0030g0129 a0001c0004t0032g0298	10	92	0.1087	10	c.508 others(29): Show c.5080-1156_5080-1147dupTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	242	0.0041	10	c.507 others(29): Show c.5079+5268_5079+5277dupTATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174018	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03017.hp2 HG00673.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0211 a0001c0001t0001g0185 a0001c0001t0001g0211	2	223	0.0090	10	c.507 others(29): Show c.5079+5241_5079+5242insAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	99	0.0101	10	c.507 others(29): Show c.5079+5239_5079+5240insAAAATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATTTTT others(3): Show ATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG01496.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0001g0220 a0001c0001t0002g0007	2	100	0.0200	10	c.507 others(29): Show c.5079+5239_5079+5240insAAAAAAAATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37185402	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03540.hp1 HG01109.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0137 a0001c0004t0005g0158 a0001c0004t0005g0137 a0001c0004t0005g0158	2	131	0.0153	10	c.477 others(29): Show c.4776+2865_4776+2874dupAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	39/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202668	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	261	0.0038	10	c.405 others(29): Show c.4057-2195_4057-2186dupATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260249	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	231	0.0043	10	c.133 others(27): Show c.1330-729_1330-720dupATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268741	C C	CTATCTAT others(3): Show CTATCTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG01993.hp2 others(2): Show HG00738.hp2 HG01496.hp1 HG01993.hp2 NA18954.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0024 a0001c0010t0001 a0001c0002t0001 a0001c0002t0024 a0001c0010t0001	a0001c0002t0001g0257 a0001c0002t0001g0270 a0001c0002t0001g0283 others(2): Show a0001c0002t0001g0257 a0001c0002t0001g0270 a0001c0002t0001g0283 a0001c0002t0024g0251 a0001c0010t0001g0256	5	195	0.0256	10	c.111 others(29): Show c.1119+2009_1119+2010insTATATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268741	C C	CTATCTAT others(3): Show CTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19057.hp2 NA18939.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0249 a0001c0002t0001g0250	2	192	0.0104	10	c.111 others(29): Show c.1119+2009_1119+2010insTAGATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268743	A A	ATCTATCT others(3): Show ATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0135 a0001c0003t0006g0135	1	239	0.0042	10	c.111 others(29): Show c.1119+2007_1119+2008insGATAGATAGA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37280730	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(16): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG02083.hp2 HG02559.hp1 HG02698.hp2 HG02886.hp1 HG02970.hp2 HG03225.hp1 HG03704.hp1 NA18747.hp1 NA18945.hp1 NA18964.hp1 NA18966.hp2 NA18984.hp2 NA18991.hp2 NA19010.hp2 NA19062.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0004t0005 a0001c0012t0001	a0001c0001t0001g0046 a0001c0001t0001g0208 a0001c0001t0002g0007 others(16): Show a0001c0001t0001g0046 a0001c0001t0001g0208 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0010g0105 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0126 a0001c0003t0001g0170 a0001c0003t0001g0209 a0001c0003t0001g0219 a0001c0003t0001g0282 a0001c0003t0001g0295 a0001c0004t0005g0277 a0001c0012t0001g0146	19	101	0.1881	10	c.610 others(27): Show c.610+2527_610+2536dupGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	5/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp2 HG01361.hp2 others(10): Show HG00733.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02451.hp1 HG02647.hp2 HG02886.hp2 HG03130.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0008 a0001c0001 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0004t0005 a0001c0004t0030 a0001c0004t0032 a0003c0008t0003	a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0003g0051 others(10): Show a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0010g0094 a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 a0001c0004t0030g0129 a0001c0004t0032g0298 a0003c0008t0003g0248	13	123	0.1057	10	c.339 others(27): Show c.339-6183_339-6174dupGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37316302	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(50): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG01069.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp2 HG01993.hp1 HG02109.hp2 HG02258.hp2 HG02523.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp1 NA18943.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19068.hp1 NA19076.hp2 NA19078.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0004t0005 a0001c0007t0003 a0003c0008t0003	a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0139 others(50): Show a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0002g0020 a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0086 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0011g0048 a0001c0001t0011g0095 a0001c0001t0014g0226 a0001c0001t0014g0271 a0001c0001t0015g0235 a0001c0001t0017g0002 a0001c0001t0026g0291 a0001c0004t0005g0040 a0001c0007t0003g0068 a0003c0008t0003g0248	53	196	0.2704	10	c.338 others(29): Show c.338+13861_338+13870dupGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37338097	A A	AAAAATAA others(3): Show AAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG03579.hp2 HG02257.hp2 HG02622.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0031 a0001c0002t0002 a0001c0001t0001 a0001c0001t0031 a0001c0002t0002	a0001c0001t0001g0193 a0001c0001t0031g0296 a0001c0002t0002g0012 a0001c0001t0001g0193 a0001c0001t0031g0296 a0001c0002t0002g0012	3	248	0.0121	10	c.85+ others(25): Show c.85+1697_85+1706dupATTTTATTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	2/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	136	0.0074	10	c.38+ others(27): Show c.38+16112_38+16121dupTATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG01192.hp1 others(7): Show HG00544.hp2 HG01069.hp2 HG01192.hp1 HG01981.hp1 HG02080.hp2 HG02486.hp2 HG03654.hp1 HG03831.hp1 NA18975.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0002t0001g0127 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0152 a0001c0002t0001g0157 a0001c0003t0001g0066 a0001c0003t0001g0114 a0001c0003t0001g0132 a0001c0003t0006g0135	10	50	0.2000	10	c.38+ others(27): Show c.38+16086_38+16087insGTGTATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	41	0.0244	10	c.38+ others(27): Show c.38+16086_38+16087insGTATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	194	0.0052	10	c.38+ others(27): Show c.38+15948_38+15957dupTATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTATATTT others(3): Show TTATATTTATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0279 a0001c0003t0003g0279	1	194	0.0052	10	c.38+ others(27): Show c.38+15957_38+15958insTATAAATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(3): Show ATATATATATC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp1 HG02683.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0232 a0001c0001t0001g0208 a0001c0001t0001g0232	2	57	0.0351	10	c.38+ others(27): Show c.38+15931_38+15932insGATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37400734	G G	GTGTGTGT others(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	298	0.0034	10	c.38+ others(25): Show c.38+5527_38+5528insGACACACACA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109133836	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02965.hp2 others(4): Show HG02559.hp1 HG02572.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03516.hp2 NA18992.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0014 a0028	a0001c0022 a0002c0006 a0006c0121 others(4): Show a0001c0022 a0002c0006 a0006c0121 a0008c0015 a0008c0044 a0014c0119 a0028c0076	a0001c0022t0004 a0002c0006t0005 a0006c0121t0004 others(4): Show a0001c0022t0004 a0002c0006t0005 a0006c0121t0004 a0008c0015t0005 a0008c0044t0003 a0014c0119t0004 a0028c0076t0010	a0001c0022t0004g0005 a0002c0006t0005g0281 a0006c0121t0004g0170 others(4): Show a0001c0022t0004g0005 a0002c0006t0005g0281 a0006c0121t0004g0170 a0008c0015t0005g0169 a0008c0044t0003g0182 a0014c0119t0004g0171 a0028c0076t0010g0265	7	250	0.0280	10	c.-9- others(25): Show c.-9-5542_-9-5533dupATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109166649	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0300 a0002c0024t0003g0300	1	172	0.0058	10	c.654 others(25): Show c.654-193_654-184dupAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02896.hp2 HG04204.hp2 others(4): Show HG00621.hp1 HG02896.hp2 HG04204.hp2 NA18962.hp2 NA18981.hp2 NA18992.hp1 NA19011.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0003 a0002c0017 a0002c0021 others(3): Show a0001c0003 a0002c0017 a0002c0021 a0004c0008 a0005c0009 a0010c0073	a0001c0003t0002 a0002c0017t0024 a0002c0021t0006 others(3): Show a0001c0003t0002 a0002c0017t0024 a0002c0021t0006 a0004c0008t0008 a0005c0009t0006 a0010c0073t0014	a0001c0003t0002g0078 a0002c0017t0024g0044 a0002c0021t0006g0239 others(4): Show a0001c0003t0002g0078 a0002c0017t0024g0044 a0002c0021t0006g0239 a0002c0021t0006g0254 a0004c0008t0008g0261 a0005c0009t0006g0256 a0010c0073t0014g0208	7	98	0.0714	10	c.787 others(25): Show c.787-251_787-242dupATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109194512	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02071.hp1 HG02698.hp2 others(11): Show HG00642.hp2 HG02071.hp1 HG02698.hp2 HG02717.hp2 HG03453.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18981.hp1 NA18984.hp2 NA19012.hp2 NA19074.hp1 NA19085.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0010 a0034 a0035 a0041	a0001c0038 a0004c0008 a0004c0040 others(7): Show a0001c0038 a0004c0008 a0004c0040 a0004c0041 a0006c0031 a0010c0042 a0010c0075 a0034c0116 a0035c0052 a0041c0072	a0001c0038t0001 a0004c0008t0001 a0004c0008t0008 others(8): Show a0001c0038t0001 a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 a0004c0041t0002 a0006c0031t0013 a0010c0042t0003 a0010c0075t0003 a0034c0116t0003 a0035c0052t0001 a0041c0072t0001	a0001c0038t0001g0199 a0004c0008t0001g0198 a0004c0008t0001g0218 others(11): Show a0001c0038t0001g0199 a0004c0008t0001g0198 a0004c0008t0001g0218 a0004c0008t0001g0222 a0004c0008t0001g0227 a0004c0008t0008g0219 a0004c0040t0002g0213 a0004c0041t0002g0224 a0006c0031t0013g0205 a0010c0042t0003g0209 a0010c0075t0003g0214 a0034c0116t0003g0068 a0035c0052t0001g0220 a0041c0072t0001g0217	14	185	0.0757	10	c.248 others(27): Show c.2481+811_2481+820dupGTGTGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109194610	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0096 a0009c0096	a0009c0096t0009 a0009c0096t0009	a0009c0096t0009g0294 a0009c0096t0009g0294	1	146	0.0068	10	c.248 others(27): Show c.2481+911_2481+920dupGTGTGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG06807.hp2 HG02280.hp2 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0064 a0007c0037 a0001c0064 a0007c0037	a0001c0064t0009 a0007c0037t0004 a0001c0064t0009 a0007c0037t0004	a0001c0064t0009g0184 a0007c0037t0004g0073 a0001c0064t0009g0184 a0007c0037t0004g0073	2	175	0.0114	10	c.291 others(27): Show c.2914-275_2914-266dupAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210014	T T	TACGTATA others(3): Show TACGTATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0280 a0001c0002t0001g0282	2	301	0.0066	10	c.324 others(27): Show c.3249+663_3249+664insGTATATACAC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210034	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0005 a0002c0070t0005	a0002c0070t0005g0200 a0002c0070t0005g0200	1	306	0.0033	10	c.324 others(27): Show c.3249+681_3249+682insATATATACAC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109210094	C C	CACGTGTG others(3): Show CACGTGTGTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0027 a0027	a0027c0094 a0027c0094	a0027c0094t0004 a0027c0094t0004	a0027c0094t0004g0072 a0027c0094t0004g0072	1	285	0.0035	10	c.324 others(27): Show c.3249+742_3249+743insCGTGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210205	A A	ATACACAC others(3): Show ATACACACGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0001 a0001c0108t0001	a0001c0108t0001g0011 a0001c0108t0001g0011	1	299	0.0033	10	c.324 others(27): Show c.3249+853_3249+854insACACACGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp1 others(13): Show HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01192.hp1 HG01258.hp2 HG02717.hp2 HG02723.hp1 HG03486.hp1 HG03516.hp1 NA18966.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18995.hp1	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0011 a0032	a0001c0002 a0001c0012 a0001c0016 others(11): Show a0001c0002 a0001c0012 a0001c0016 a0001c0023 a0001c0038 a0001c0050 a0001c0095 a0002c0006 a0002c0007 a0002c0036 a0009c0025 a0010c0073 a0011c0027 a0032c0068	a0001c0002t0001 a0001c0012t0002 a0001c0016t0009 others(11): Show a0001c0002t0001 a0001c0012t0002 a0001c0016t0009 a0001c0023t0004 a0001c0038t0001 a0001c0050t0001 a0001c0095t0001 a0002c0006t0003 a0002c0007t0006 a0002c0036t0003 a0009c0025t0001 a0010c0073t0014 a0011c0027t0004 a0032c0068t0001	a0001c0002t0001g0110 a0001c0012t0002g0248 a0001c0016t0009g0303 others(13): Show a0001c0002t0001g0110 a0001c0012t0002g0248 a0001c0016t0009g0303 a0001c0023t0004g0121 a0001c0038t0001g0199 a0001c0050t0001g0276 a0001c0095t0001g0133 a0002c0006t0003g0094 a0002c0007t0006g0018 a0002c0036t0003g0162 a0009c0025t0001g0105 a0009c0025t0001g0267 a0009c0025t0001g0268 a0010c0073t0014g0208 a0011c0027t0004g0249 a0032c0068t0001g0202	16	40	0.4000	10	c.678 others(27): Show c.6787+505_6787+514dupATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTTTATAT others(3): Show TTTTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01167.hp2 others(7): Show HG00621.hp2 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG02080.hp1 HG03490.hp2 HG03831.hp2 HG03834.hp2 NA18945.hp1 NA18960.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0010 a0001c0018 others(5): Show a0001c0003 a0001c0010 a0001c0018 a0001c0029 a0001c0058 a0003c0005 a0004c0040 a0004c0041	a0001c0003t0002 a0001c0010t0002 a0001c0018t0002 others(5): Show a0001c0003t0002 a0001c0010t0002 a0001c0018t0002 a0001c0029t0011 a0001c0058t0016 a0003c0005t0002 a0004c0040t0002 a0004c0041t0002	a0001c0003t0002g0092 a0001c0003t0002g0112 a0001c0003t0002g0241 others(7): Show a0001c0003t0002g0092 a0001c0003t0002g0112 a0001c0003t0002g0241 a0001c0010t0002g0020 a0001c0018t0002g0050 a0001c0029t0011g0090 a0001c0058t0016g0186 a0003c0005t0002g0243 a0004c0040t0002g0213 a0004c0041t0002g0223	10	34	0.2941	10	c.678 others(27): Show c.6787+482_6787+483insTTATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111690780	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0325 a0002c0003t0003g0325	1	294	0.0034	10	c.-13 others(27): Show c.-13-1907_-13-1898dupAAAAAAAAAA	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111718036	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 NA19240.hp2 HG02145.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027	3	58	0.0517	10	c.992 others(27): Show c.992+2096_992+2105dupTTTTTTTTTT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111757583	G G	GTAGACCA others(3): Show GTAGACCAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	334	0.0030	10	c.11 others(21): Show c.1110_*1111insTAGACCAGAC	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding		485		chr12	TogoVar
ACAD9_chr3_128874620_128918114	128887644	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0256 a0001c0007t0001g0256	1	109	0.0092	10	c.244 others(27): Show c.244+2913_244+2922dupATATATATAT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128899522	C C	CCGTGTGT others(3): Show CCGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0188 a0001c0003t0005g0188	1	354	0.0028	10	c.808 others(23): Show c.808+61_808+62insCGTGTGTGTG	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	7/17			chr3	TogoVar
ACAD9_chr3_128874620_128918114	128899523	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02486.hp2 HG02896.hp1 others(2): Show HG02080.hp1 HG02486.hp2 HG02896.hp1 NA18522.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0124 a0001c0002t0002g0136 a0001c0003t0003g0028 others(1): Show a0001c0002t0002g0124 a0001c0002t0002g0136 a0001c0003t0003g0028 a0001c0003t0003g0082	5	142	0.0352	10	c.808 others(24): Show c.808+93_808+102dupGTGTGTGTGT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210184989	G G	GACACACA others(3): Show GACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	47	0.0213	10	c.39 others(21): Show c.3971_*3972insGTGTGTGTGT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding		2933		chr2	TogoVar
ACADM_chr1_75719709_75768679	75736173	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02615.hp2 others(4): Show HG01255.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG03471.hp1 HG06807.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 others(4): Show a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0131 a0001c0002t0003g0315	7	21	0.3333	10	c.468 others(27): Show c.468+1325_468+1334dupACACACACAC	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00642.hp1 others(9): Show HG00280.hp1 HG00423.hp1 HG00642.hp1 HG00673.hp1 HG01891.hp2 HG01978.hp1 HG03130.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18985.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0006 a0001c0001t0002g0126 others(9): Show a0001c0001t0001g0082 a0001c0001t0002g0006 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0223 a0001c0001t0002g0235 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0342 a0001c0001t0002g0347 a0001c0001t0002g0348	12	33	0.3636	10	c.946 others(25): Show c.946-551_946-542dupAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123006257	G G	GGCTAATT others(3): Show GGCTAATTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0211 a0001c0001t0009g0217 a0001c0001t0003g0211 a0001c0001t0009g0217	2	372	0.0054	10	c.-27 others(21): Show c.-2773_-2772insGCTAATTTCC	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding		2748		chr10	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATTTTT others(3): Show ATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0034 a0003c0004t0006g0034	1	126	0.0079	10	c.900 others(25): Show c.900+687_900+688insATTTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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