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
ABHD12B_chr14_50867053_50909970	50870908	C C	CAAGAAAG others(29): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0214 a0002c0002t0012g0214	1	355	0.0028	36	c.-12 others(47): Show c.-1267_-1266insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1144		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02738.hp1 NA18964.hp1 others(1): Show HG02717.hp1 HG02738.hp1 NA18964.hp1 NA18984.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0009	a0001c0001t0001 a0002c0002t0002 a0002c0004t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0002 a0004c0009t0003	a0001c0001t0001g0045 a0002c0002t0002g0084 a0002c0004t0002g0008 others(1): Show a0001c0001t0001g0045 a0002c0002t0002g0084 a0002c0004t0002g0008 a0004c0009t0003g0168	4	120	0.0333	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG03486.hp1 NA19240.hp2 others(1): Show HG02080.hp2 HG03486.hp1 NA19240.hp2 NA20300.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0003c0003 a0004c0007 a0002c0004 a0003c0003 a0004c0007	a0002c0004t0005 a0003c0003t0001 a0004c0007t0001 a0002c0004t0005 a0003c0003t0001 a0004c0007t0001	a0002c0004t0005g0071 a0003c0003t0001g0061 a0004c0007t0001g0115 others(1): Show a0002c0004t0005g0071 a0003c0003t0001g0061 a0004c0007t0001g0115 a0004c0007t0001g0187	4	120	0.0333	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02818.hp2 HG03041.hp1 others(1): Show HG00673.hp1 HG02818.hp2 HG03041.hp1 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0006t0001 a0003c0003t0001 a0001c0001t0001 a0001c0006t0001 a0003c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0006t0001g0072 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0006t0001g0072 a0003c0003t0001g0146	4	120	0.0333	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0099 a0001c0001t0001g0038 a0001c0001t0001g0099	2	118	0.0169	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 NA18950.hp1 NA18983.hp2 others(1): Show HG01975.hp1 NA18950.hp1 NA18983.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0005t0004 a0003c0003t0001 a0001c0001t0001 a0001c0005t0004 a0003c0003t0001	a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0005t0004g0131 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0005t0004g0131 a0003c0003t0001g0325	4	120	0.0333	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(29): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19077.hp1 NA18952.hp1 NA19077.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0009c0016t0002 a0001c0001t0001 a0009c0016t0002	a0001c0001t0001g0275 a0009c0016t0002g0266 a0001c0001t0001g0275 a0009c0016t0002g0266	2	118	0.0169	36	c.-11 others(47): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870990	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0268 a0001c0006t0001g0268	1	373	0.0027	36	c.-11 others(47): Show c.-1185_-1184insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1062		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	197	0.0051	36	c.-11 others(47): Show c.-1149_-1148insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA GG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322362	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03491.hp1 HG02257.hp2 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0195 a0001c0002t0002g0155 a0001c0002t0002g0195	2	297	0.0067	36	c.422 others(51): Show c.422+962_422+963insATATATATATATATATATATATATATATAT ATATAT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	93	0.0108	36	c.422 others(51): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATACATA others(29): Show CATACATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0228 a0001c0001t0032g0228	1	197	0.0051	36	c.194 others(55): Show c.194+11188_194+11189insCATATATATATATATATATATATATA CATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127724	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0010 a0001c0001t0040g0010	1	226	0.0044	36	c.194 others(55): Show c.194+11219_194+11220insATATATATATATATATATACATATAT ATATATATAT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(29): Show GCATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG06807.hp2 HG02559.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0283 a0001c0001t0001g0284	2	85	0.0235	36	c.837 others(53): Show c.837+1395_837+1396insCATATATATATATATATATATATATATA TGTATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0195 a0001c0005t0004g0195	1	4	0.2500	36	c.80- others(53): Show c.80-14349_80-14348insCTATATATATATATATATATATATATAT ATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	8	0.1250	36	c.982 others(51): Show c.982+778_982+779insTATATATATATATATATATATATATACACA CACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0109 a0001c0002t0040g0109	1	8	0.1250	36	c.982 others(51): Show c.982+778_982+779insTATATATATATATATATATATATACACACA CACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0113 a0001c0003t0088g0113	1	8	0.1250	36	c.982 others(51): Show c.982+778_982+779insTATATATATATATATATATACACACACACA CACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA20905.hp1 HG01261.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0310 a0001c0002t0001g0161 a0001c0001t0002g0310 a0001c0002t0001g0161	2	118	0.0169	36	c.182 others(55): Show c.1825-6008_1825-5973dupCACACACACACACACACACACACACA CACACACACA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0247 a0001c0001t0011g0247	1	173	0.0058	36	c.67 others(47): Show c.6721_*6722insGTGTATGTATATATATATATATATATATATATAT AT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	1078104	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18983.hp1 HG02135.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0055 a0001c0001t0007g0325 a0001c0001t0006g0055 a0001c0001t0007g0325	2	292	0.0068	36	c.700 others(53): Show c.700+1225_700+1226insACACACACACACACACACACACACACAC ACACACAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143092	T T	TTCCTGGG others(29): Show TTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19005.hp2 HG00544.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0116 a0001c0001t0008g0041 a0001c0001t0003g0116 a0001c0001t0008g0041	2	324	0.0062	36	c.62- others(53): Show c.62-17761_62-17726dupGCGAGCTGCCCCCCAGGAGCGAGCTGTC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143200	T T	TTCCTGGG others(29): Show TTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 NA19030.hp2 HG02258.hp1 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0001t0014 a0001c0009t0018 a0001c0001t0005 a0001c0001t0014 a0001c0009t0018	a0001c0001t0005g0280 a0001c0001t0014g0243 a0001c0009t0018g0101 a0001c0001t0005g0280 a0001c0001t0014g0243 a0001c0009t0018g0101	3	153	0.0196	36	c.62- others(53): Show c.62-17869_62-17834dupGCGAGCTGCCCCCCAGGAGCGAGCTGTC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0135 a0001c0003t0006g0135	1	83	0.0120	36	c.508 others(55): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	99	0.0101	36	c.507 others(55): Show c.5079+5239_5079+5240insAAAATATATATATATATATATATATA TATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	99	0.0101	36	c.507 others(55): Show c.5079+5239_5079+5240insAAAAAAAAAATATATATATATATATA TATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390308	A A	ATATATAT others(29): Show ATATATATATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	296	0.0034	36	c.38+ others(53): Show c.38+15953_38+15954insATATATATATATATATATATATATAATA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390312	A A	ATATATAT others(29): Show ATATATATATTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0148 a0001c0015t0001g0148	1	298	0.0034	36	c.38+ others(53): Show c.38+15949_38+15950insATATATATATATATATATATATATATAA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp1 NA18975.hp2 others(2): Show HG02080.hp1 HG03239.hp1 NA18975.hp2 NA18984.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0221 a0001c0001t0006g0189 a0001c0002t0001g0254 others(2): Show a0001c0001t0001g0221 a0001c0001t0006g0189 a0001c0002t0001g0254 a0001c0002t0001g0274 a0001c0005t0001g0222	5	60	0.0833	36	c.38+ others(53): Show c.38+15931_38+15932insGATATATATATATATATATATATATATA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0247 a0004c0014t0001g0247	1	56	0.0179	36	c.38+ others(53): Show c.38+15931_38+15932insGATAGATATATATATATATATATATATA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA20300.hp2 NA19011.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0124 a0003c0001 a0001c0124 a0003c0001	a0001c0124t0012 a0003c0001t0001 a0001c0124t0012 a0003c0001t0001	a0001c0124t0012g0197 a0003c0001t0001g0295 a0001c0124t0012g0197 a0003c0001t0001g0295	2	93	0.0215	36	c.787 others(51): Show c.787-242_787-241insATATATATATATATATATATATATATATAT ATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109209912	C C	CGTGTGTA others(29): Show CGTGTGTATATATGTGTATACACACATACACACACGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(10): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG02145.hp1 HG03239.hp2 HG03654.hp2 NA19060.hp2 NA20905.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0033	a0001c0002 a0001c0012 a0001c0034 others(7): Show a0001c0002 a0001c0012 a0001c0034 a0001c0050 a0001c0109 a0001c0111 a0006c0078 a0006c0120 a0007c0101 a0033c0082	a0001c0002t0001 a0001c0012t0002 a0001c0034t0001 others(7): Show a0001c0002t0001 a0001c0012t0002 a0001c0034t0001 a0001c0050t0001 a0001c0109t0002 a0001c0111t0001 a0006c0078t0001 a0006c0120t0003 a0007c0101t0002 a0033c0082t0002	a0001c0002t0001g0085 a0001c0002t0001g0106 a0001c0012t0002g0260 others(10): Show a0001c0002t0001g0085 a0001c0002t0001g0106 a0001c0012t0002g0260 a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0050t0001g0274 a0001c0050t0001g0276 a0001c0109t0002g0275 a0001c0111t0001g0273 a0006c0078t0001g0181 a0006c0120t0003g0043 a0007c0101t0002g0086 a0033c0082t0002g0127	13	201	0.0647	36	c.324 others(53): Show c.3249+615_3249+650dupCACACATACACACACGTGTGTGTATATA TGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACADL_chr2_210182923_210230447	210187035	T T	TTGAGTGG others(29): Show TTGAGTGGGGGGGGGGGGGGGGGGGGGGGGGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	272	0.0037	36	c.19 others(47): Show c.1925_*1926insCTCACCCCCCCCCCCCCCCCCCCCCCCCCCCACT CA	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding		887		chr2	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01516.hp2 HG02040.hp1 others(5): Show HG00423.hp1 HG01516.hp2 HG02040.hp1 HG02040.hp2 HG03831.hp2 NA18956.hp2 NA19007.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0198 a0002c0002t0001g0233	8	29	0.2759	36	c.536 others(53): Show c.536+1844_536+1879dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288210	T T	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG03688.hp2 NA18948.hp1 HG01257.hp1 HG03688.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0032 a0001c0001t0001g0172 a0001c0002t0002g0089 a0001c0001t0001g0032 a0001c0001t0001g0172 a0001c0002t0002g0089	3	284	0.0106	36	c.53 others(47): Show c.5353_*5354insGGACACGGGACGGAGCAGGGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4180		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288233	T T	TCCGTCCC others(29): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA20300.hp1 NA18990.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0056 a0001c0001t0004g0007 a0001c0001t0001g0056 a0001c0001t0004g0007	2	282	0.0071	36	c.53 others(47): Show c.5330_*5331insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4157		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	255	0.0039	36	c.52 others(47): Show c.5288_*5289insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288318	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19070.hp2 HG00735.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0015 a0001c0001t0001g0039	2	189	0.0106	36	c.52 others(47): Show c.5245_*5246insAGACACGGGACGGAGCAGAGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4072		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288347	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	264	0.0038	36	c.52 others(47): Show c.5216_*5217insACGGGGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4043		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288347	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	264	0.0038	36	c.52 others(47): Show c.5216_*5217insACGGAGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4043		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288391	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	294	0.0034	36	c.51 others(47): Show c.5172_*5173insCACGGGACGGAGCAGGGACACGGGGGACGGGGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3999		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288409	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	294	0.0034	36	c.51 others(47): Show c.5154_*5155insCACGGGACGGAGCAGGGACACGGGGGACGGGGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3981		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288410	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	116	0.0086	36	c.51 others(47): Show c.5153_*5154insAGACACGGGACGGAGCAGAGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3980		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288433	T T	CCCGTCCC others(29): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	250	0.0040	36	c.51 others(47): Show c.5131_*5132insGCAGAGACACGGGACGGAGCAGAGACACGGGACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3958		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	265	0.0038	36	c.51 others(47): Show c.5106_*5107insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	262	0.0038	36	c.50 others(47): Show c.5014_*5015insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18522.hp1 HG02738.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0164 a0001c0013t0001g0046 a0001c0001t0001g0164 a0001c0013t0001g0046	2	263	0.0076	36	c.50 others(47): Show c.5014_*5015insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288557	C C	CTCTGCTC others(29): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	292	0.0034	36	c.50 others(47): Show c.5006_*5007insCACGGGGGACGGAGCAGAGACACGGGACGGAGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3833		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288569	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	268	0.0037	36	c.49 others(47): Show c.4994_*4995insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3821		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288607	C C	CCCCGAGT others(29): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	272	0.0037	36	c.49 others(47): Show c.4956_*4957insACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar

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