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
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02129.hp1 HG03654.hp2 others(6): Show HG01433.hp1 HG02129.hp1 HG03654.hp2 NA18612.hp1 NA18971.hp1 NA18984.hp1 NA18993.hp2 NA19056.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0282 others(6): Show a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0315 a0001c0001t0004g0273 a0001c0001t0004g0280 a0001c0001t0004g0338 a0001c0001t0007g0298	9	349	0.0258	18	c.-1- others(35): Show c.-1-33448_-1-33447insATATATTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG02293.hp2 others(1): Show HG01123.hp2 HG01346.hp2 HG02293.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0295 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0281 a0001c0001t0001g0295 a0001c0001t0001g0305 a0001c0001t0001g0331	4	349	0.0115	18	c.-1- others(35): Show c.-1-33448_-1-33447insATATATATTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0266 a0001c0001t0007g0266	1	349	0.0029	18	c.-1- others(35): Show c.-1-33448_-1-33447insATATATATATTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0120 a0001c0001t0053g0120	1	349	0.0029	18	c.-2+ others(35): Show c.-2+46488_-2+46505dupTTTTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153927591	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	349	0.0029	18	c.-48 others(29): Show c.-4861_-4860insCACACACACACACACACA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding		4620		chr1	TogoVar
GATB_chr4_151665504_151766007	151697947	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	320	0.0031	18	c.119 others(37): Show c.1197+3381_1197+3382insTATATATATATATATACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02735.hp1 HG03225.hp1 others(5): Show HG00280.hp1 HG02735.hp1 HG03225.hp1 HG03453.hp2 NA18612.hp2 NA19074.hp1 NA19082.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0009t0001g0182	8	320	0.0250	18	c.328 others(37): Show c.328-16197_328-16196insTATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151765852	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01981.hp1 HG02148.hp1 others(2): Show HG01433.hp1 HG01981.hp1 HG02148.hp1 HG02486.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0094 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0160	5	320	0.0156	18	c.-48 others(29): Show c.-4871_-4870insCTCTCTCTCTCTCTCTCT	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding		4846		chr4	TogoVar
GATD1_chr11_762222_782487	763204	G G	GCCCCCGC others(11): Show GCCCCCGCCCTCACCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	430	0.0023	18	c.76 others(29): Show c.7692_*7693insGGCGGGTGAGGGCGGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4017		chr11	TogoVar
GBE1_chr3_81484703_81766645	81593370	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01257.hp1 HG00558.hp1 HG01257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0278 a0002c0002t0001g0125 a0001c0001t0005g0278 a0002c0002t0001g0125	2	304	0.0066	18	c.110 others(35): Show c.1108+520_1108+537dupATTATTATTATTATTATT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	8/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81628742	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	304	0.0033	18	c.992 others(37): Show c.992+14021_992+14038dupATATATATATATATATAT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	7/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750539	G G	GTATATAT others(11): Show GTATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	304	0.0033	18	c.143 others(37): Show c.143+10835_143+10836insTACATATATATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102242928	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0104 a0001c0004t0002g0104	1	330	0.0030	18	c.-28 others(29): Show c.-2864_-2863insAAAAAAAAAAAAAAAAAA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding		2603		chr10	TogoVar
GBF1_chr10_102240532_102387896	102293764	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03927.hp2 HG02293.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0161 a0001c0001t0006g0165 a0001c0001t0001g0161 a0001c0001t0006g0165	2	330	0.0061	18	c.163 others(37): Show c.163+33652_163+33653insTTTTTTTTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBGT1_chr9_133147948_133168914	133160281	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp2 others(29): Show HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02165.hp1 HG02273.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG03139.hp1 HG03139.hp2 HG03831.hp2 HG06807.hp2 NA18947.hp1 NA18950.hp1 NA18974.hp2 NA18995.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19057.hp2 NA19080.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0012 a0025	a0001c0005 a0002c0002 a0002c0004 others(3): Show a0001c0005 a0002c0002 a0002c0004 a0007c0013 a0012c0017 a0025c0034	a0001c0005t0001 a0002c0002t0002 a0002c0004t0004 others(3): Show a0001c0005t0001 a0002c0002t0002 a0002c0004t0004 a0007c0013t0001 a0012c0017t0002 a0025c0034t0002	a0001c0005t0001g0184 a0002c0002t0002g0006 a0002c0002t0002g0009 others(10): Show a0001c0005t0001g0184 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0129 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0004t0004g0051 a0007c0013t0001g0185 a0012c0017t0002g0181 a0025c0034t0002g0154	32	446	0.0718	18	c.137 others(35): Show c.137+1168_137+1185dupTATTATTATTATTATTAT	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6			chr9	TogoVar
GBP3_chr1_89001680_89027866	89021510	G G	GCACGCAC others(11): Show GCACGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0316 a0005c0006t0005g0316	1	436	0.0023	18	c.-22 others(33): Show c.-22-768_-22-767insTGTGTGTGTGTGTGCGTG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021544	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0297 a0001c0001t0008g0297	1	436	0.0023	18	c.-22 others(33): Show c.-22-802_-22-801insGGTGTGTGTGTGTGTGTG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021544	A A	ACACACAC others(11): Show ACACACACACACCCCCCCC	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0104 a0004c0004t0001g0104	1	436	0.0023	18	c.-22 others(33): Show c.-22-802_-22-801insGGGGGGGGTGTGTGTGTG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021788	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0159 a0004c0004t0001g0159	1	436	0.0023	18	c.-23 others(33): Show c.-23+878_-23+895dupTCTCTCTCTCTCTCTCTC	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBX2_chr2_236160236_236173386	236160238	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02300.hp1 others(2): Show HG01496.hp2 HG02145.hp1 HG02300.hp1 NA18906.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0003g0013 a0001c0001t0004g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0003g0013 a0001c0001t0004g0006 a0001c0001t0006g0007	5	342	0.0146	18	c.56 others(29): Show c.5675_*5676insACACACACACACACACAC	GBX2	ENSG00000168505.7	transcript	ENST00000306318.5	protein_coding		4997		chr2	TogoVar
GCA_chr2_162339132_162368123	162345093	A A	ATGGTGGT others(11): Show ATGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01070.hp1 others(10): Show HG00280.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG02055.hp2 NA18948.hp2 NA18970.hp2 NA18983.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0066 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0054 a0001c0001t0003g0025 a0001c0001t0003g0148 a0001c0001t0007g0065 a0001c0001t0016g0018	13	366	0.0355	18	c.27+ others(31): Show c.27+844_27+861dupGGTGGTGGTGGTGGTGGT	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(11): Show GGTGGTGGTGGTGGTGGTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	366	0.0055	18	c.27+ others(31): Show c.27+861_27+862insGGTGGTGGTGGTTGTGGT	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(11): Show GGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp1 HG01975.hp1 HG00738.hp1 HG01928.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0156 a0001c0001t0003g0051 a0001c0001t0003g0156	3	366	0.0082	18	c.27+ others(31): Show c.27+861_27+862insGGTGGTTGTGGTTGTGGT	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108459745	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19062.hp2 NA19080.hp2 HG03491.hp1 NA19062.hp2 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0125 a0003c0003t0003g0109 a0003c0003t0003g0111 a0001c0001t0003g0125 a0003c0003t0003g0109 a0003c0003t0003g0111	3	276	0.0109	18	c.216 others(35): Show c.216+7295_216+7312dupTTTTTTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108509733	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03471.hp2 HG03579.hp1 others(2): Show HG02145.hp2 HG03471.hp2 HG03579.hp1 NA19067.hp1 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0039 a0003c0003t0003 a0001c0001t0005 a0001c0001t0039 a0003c0003t0003	a0001c0001t0005g0006 a0001c0001t0005g0101 a0001c0001t0005g0142 others(2): Show a0001c0001t0005g0006 a0001c0001t0005g0101 a0001c0001t0005g0142 a0001c0001t0039g0137 a0003c0003t0003g0106	5	276	0.0181	18	c.21 others(29): Show c.2103_*2104insTTTTTTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding		319		chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0072 a0001c0001t0004g0026 a0001c0001t0001g0072 a0001c0001t0004g0026	2	346	0.0058	18	c.509 others(35): Show c.509+4158_509+4175dupTTTTTTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54905608	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18983.hp2 NA19057.hp1 HG02809.hp2 NA18983.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0002g0068 a0001c0001t0002g0089 a0001c0001t0001g0053 a0001c0001t0002g0068 a0001c0001t0002g0089	3	346	0.0087	18	c.-29 others(29): Show c.-2946_-2945insGAGAGAGAGAGAGAGAGA	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		2783		chr14	TogoVar
GCK_chr7_44139275_44194439	44174848	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0310 a0001c0001t0002g0167 a0001c0001t0002g0310	2	392	0.0051	18	c.45+ others(35): Show c.45+14060_45+14061insAGAAGAAGAAGAAGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCCTCTT others(11): Show CTCCTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	392	0.0026	18	c.45+ others(35): Show c.45+14054_45+14055insAGAAGAAGAAGAAGAGGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCCT others(11): Show CTCTTCCTCCTCCTCTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	392	0.0026	18	c.45+ others(35): Show c.45+14054_45+14055insAGAAGAGGAGGAGGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCCT others(11): Show CTCTTCCTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02559.hp2 NA18954.hp1 others(4): Show HG00423.hp1 HG02559.hp2 NA18954.hp1 NA18981.hp2 NA18983.hp2 NA19002.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018	a0001c0001t0002g0084 a0001c0001t0003g0117 a0001c0001t0003g0276 others(3): Show a0001c0001t0002g0084 a0001c0001t0003g0117 a0001c0001t0003g0276 a0001c0001t0007g0023 a0001c0001t0010g0344 a0001c0001t0018g0343	7	392	0.0179	18	c.45+ others(35): Show c.45+14054_45+14055insAGAAGAAGAAGAGGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01358.hp2 HG01361.hp1 others(5): Show HG00621.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02615.hp1 HG04199.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0149 a0001c0001t0001g0197 a0001c0001t0001g0293 others(4): Show a0001c0001t0001g0149 a0001c0001t0001g0197 a0001c0001t0001g0293 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0003g0044 a0001c0001t0014g0025	8	392	0.0204	18	c.45+ others(35): Show c.45+14037_45+14054dupAGAAGAAGAAGAAGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(11): Show TCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01256.hp2 others(14): Show HG00140.hp1 HG00673.hp1 HG01256.hp2 HG01515.hp1 HG01517.hp2 HG02074.hp1 HG02148.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02896.hp2 HG04184.hp1 NA18939.hp1 NA18979.hp2 NA18984.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0105 others(12): Show a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0220 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0088 a0001c0001t0002g0108 a0001c0001t0002g0270 a0001c0001t0002g0291 a0001c0001t0002g0333 a0001c0001t0004g0215	17	392	0.0434	18	c.45+ others(35): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAG	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCM1_chr6_53121961_53153841	53128028	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0348 a0001c0001t0033g0348	1	412	0.0024	18	c.16 others(27): Show c.160_*177dupTTTTTTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	6/6	177		chr6	TogoVar
GCM2_chr6_10868223_10887041	10883180	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02735.hp2 HG03710.hp1 others(1): Show HG00733.hp2 HG02735.hp2 HG03710.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0002g0024	4	426	0.0094	18	c.-13 others(29): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAA	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		1140		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00741.hp1 others(8): Show HG00140.hp2 HG00639.hp2 HG00741.hp1 HG01175.hp2 HG01192.hp2 HG01884.hp1 HG02040.hp2 HG02135.hp1 HG02486.hp2 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024	a0001c0001t0001g0019 a0001c0001t0001g0082 a0001c0001t0001g0101 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0205 a0001c0001t0003g0231 a0001c0001t0006g0288 a0001c0001t0024g0241	11	324	0.0340	18	c.925 others(37): Show c.925+39421_925+39438dupACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00741.hp2 others(8): Show HG00140.hp2 HG00639.hp2 HG00741.hp2 HG01175.hp1 HG01192.hp1 HG01884.hp1 HG02040.hp1 HG02135.hp2 HG02486.hp2 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0171 others(8): Show a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0233 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0002g0157 a0001c0002t0001g0282	11	344	0.0320	18	c.919 others(37): Show c.919+11915_919+11932dupACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610821	T T	TCTCCCCC others(11): Show TCTCCCCCTCCCTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA18974.hp2 NA20300.hp2 HG02280.hp2 NA18974.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0109 a0001c0001t0004 a0001c0001t0006 a0001c0001t0109	a0001c0001t0004g0014 a0001c0001t0006g0096 a0001c0001t0109g0116 a0001c0001t0004g0014 a0001c0001t0006g0096 a0001c0001t0109g0116	3	428	0.0070	18	c.-14 others(29): Show c.-1411_-1410insCTCCCCCTCCCTCCTTCC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		961		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611176	C C	CCTCCCCT others(11): Show CCTCCCCTTCTCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	428	0.0023	18	c.-10 others(29): Show c.-1056_-1055insCTCCCCTTCTCCTCCCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		606		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0041 a0003c0003t0004g0041	1	354	0.0028	18	c.21 others(29): Show c.2198_*2199insAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GC_chr4_71736697_71789079	71746772	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	388	0.0026	18	c.139 others(35): Show c.1396-585_1396-568dupTTTTTTTTTTTTTTTTTT	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	11/12			chr4	TogoVar
GC_chr4_71736697_71789079	71754597	T T	TCAGTATG others(11): Show TCAGTATGAGTATTATCTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	388	0.0026	18	c.116 others(33): Show c.1165-90_1165-89insTAGATAATACTCATACTG	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	9/12			chr4	TogoVar
GC_chr4_71736697_71789079	71778891	G G	GTTATTGT others(11): Show GTTATTGTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0103 a0003c0003t0001g0103	1	388	0.0026	18	c.58+ others(33): Show c.58+5069_58+5070insTAATAATAATAACAATAA	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	1/12			chr4	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	392	0.0026	18	c.761 others(35): Show c.761-2544_761-2543insGAAAGAAAGAAAGAAAGA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44276456	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	392	0.0026	18	c.761 others(35): Show c.761-2490_761-2489insGAAAGAAAAAGAAAGAAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44276466	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0107 a0001c0001t0019g0107	1	392	0.0026	18	c.761 others(35): Show c.761-2490_761-2489insGAAAGAAAGAAAGAAAGA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44281669	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02293.hp2 HG02622.hp2 others(8): Show HG01496.hp1 HG02293.hp2 HG02622.hp2 HG02738.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp1 HG06807.hp1 NA18957.hp1 NA18991.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0128 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0003g0004 a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0003g0109	11	392	0.0281	18	c.23 others(29): Show c.2369_*2370insACACACACACACACACAC	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding		723		chr20	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00738.hp1 others(18): Show HG00597.hp1 HG00597.hp2 HG00738.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01517.hp2 HG02300.hp2 HG02523.hp1 HG03492.hp1 NA18960.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA18995.hp2 NA18998.hp2 NA19058.hp1 NA19065.hp2 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0001t0030	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0021 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0103 a0001c0001t0003g0114 a0001c0001t0005g0015 a0001c0001t0005g0043 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0001 a0001c0001t0022g0056 a0001c0001t0030g0027	21	312	0.0673	18	c.212 others(35): Show c.212+3273_212+3274insTATATATATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDE1_chr16_19496693_19527098	19506967	C C	CTACAAAA others(11): Show CTACAAAAAATAAAAATAA	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	398	0.0025	18	c.636 others(33): Show c.636+702_636+719dupTTATTTTTATTTTTTGTA	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	4/5			chr16	TogoVar
GDE1_chr16_19496693_19527098	19512927	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03098.hp2 HG02155.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0096 a0001c0001t0008g0235 a0001c0001t0005g0096 a0001c0001t0008g0235	2	398	0.0050	18	c.438 others(35): Show c.438-2001_438-1984dupCACACACACACACACACA	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	2/5			chr16	TogoVar

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