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
GLB1_chr3_32991617_33102146	33022564	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18961.hp2 NA18978.hp2 others(1): Show NA18747.hp2 NA18961.hp2 NA18978.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0138 a0002c0002t0001g0288	4	394	0.0102	21	c.114 others(38): Show c.1144-910_1144-909insAAAAAAAAAAAAAAAAAAAAA	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	11/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0399 a0001c0001t0035g0399	1	416	0.0024	21	c.457 others(38): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAA	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03490.hp2 NA18998.hp1 others(1): Show HG00423.hp2 HG03490.hp2 NA18998.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0344 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0344 a0001c0001t0037g0291	4	416	0.0096	21	c.696 others(38): Show c.696+1027_696+1047dupTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18944.hp1 HG00597.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0017 a0001c0003t0001g0056 a0001c0002t0001g0017 a0001c0003t0001g0056	2	342	0.0059	21	c.334 others(38): Show c.334+4945_334+4946insATATATATATATATATATATT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAGTATAT others(14): Show AAGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18960.hp1 NA18983.hp1 others(2): Show NA18950.hp2 NA18960.hp1 NA18983.hp1 NA18993.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0001g0306 a0001c0001t0001g0307 others(2): Show a0001c0001t0001g0211 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0185	5	342	0.0146	21	c.334 others(38): Show c.334+4945_334+4946insATATATATATATATATATACT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	342	0.0029	21	c.334 others(38): Show c.334+4945_334+4946insATATATATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6644029	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0003 a0001c0026t0003	a0001c0026t0003g0231 a0001c0026t0003g0231	1	342	0.0029	21	c.334 others(36): Show c.334+564_334+584dupTTTTTTTTTTTTTTTTTTTTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6646315	T T	TCTCCTCC others(14): Show TCTCCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00673.hp1 others(38): Show HG00438.hp1 HG00621.hp1 HG00673.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp1 HG02004.hp1 HG02056.hp1 HG02080.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03453.hp2 HG03540.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19063.hp2 NA19079.hp2 NA19084.hp2 NA19086.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0018 others(5): Show a0001c0001 a0001c0002 a0001c0018 a0001c0021 a0001c0036 a0001c0037 a0002c0006 a0013c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0002t0001 a0001c0002t0008 a0001c0002t0020 a0001c0018t0001 a0001c0021t0025 a0001c0036t0001 a0001c0037t0006 a0002c0006t0002 a0013c0030t0002	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0180 others(38): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0250 a0001c0001t0001g0276 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0185 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0258 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0004g0118 a0001c0001t0024g0181 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0008g0019 a0001c0002t0020g0018 a0001c0018t0001g0004 a0001c0021t0025g0079 a0001c0036t0001g0220 a0001c0037t0006g0277 a0002c0006t0002g0198 a0013c0030t0002g0207	41	342	0.1199	21	c.-81 others(30): Show c.-817_-816insGAGGAGGAGGAGGAGGAGGAG	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding		587		chr9	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG01516.hp2 others(6): Show HG00323.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG02071.hp1 NA18941.hp1 NA19066.hp2 NA19081.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0024 a0001c0003t0016 a0001c0004t0001	a0001c0001t0001g0269 a0001c0001t0001g0305 a0001c0001t0002g0251 others(6): Show a0001c0001t0001g0269 a0001c0001t0001g0305 a0001c0001t0002g0251 a0001c0001t0014g0172 a0001c0001t0014g0176 a0001c0001t0024g0266 a0001c0001t0024g0267 a0001c0003t0016g0039 a0001c0004t0001g0206	9	342	0.0263	21	c.182 others(40): Show c.1827+1169_1827+1189dupTTTTTTTTTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(14): Show AAGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00733.hp1 others(5): Show HG00408.hp1 HG00597.hp1 HG00733.hp1 HG01433.hp1 HG02615.hp1 HG02647.hp2 HG03041.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0024 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0003 a0001c0004t0001 a0001c0004t0027 a0001c0008t0014 a0002c0007t0001	a0001c0001t0001g0299 a0001c0001t0001g0321 a0001c0001t0024g0266 others(5): Show a0001c0001t0001g0299 a0001c0001t0001g0321 a0001c0001t0024g0266 a0001c0002t0003g0037 a0001c0004t0001g0216 a0001c0004t0027g0185 a0001c0008t0014g0178 a0002c0007t0001g0341	8	342	0.0234	21	c.775 others(38): Show c.775-1804_775-1803insATATATATATATATATATACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTGTAT others(14): Show AAGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04204.hp2 HG02300.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0063 a0001c0003t0003g0069 a0001c0003t0003g0063 a0001c0003t0003g0069	2	342	0.0059	21	c.775 others(38): Show c.775-1804_775-1803insATATATATATATATATACACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp2 HG02896.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0061 a0001c0003t0003g0077 a0001c0003t0003g0061 a0001c0003t0003g0077	2	342	0.0059	21	c.439 others(40): Show c.439-10634_439-10614dupTCCTTCCTTCCTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542768	A A	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	342	0.0029	21	c.439 others(40): Show c.439-10636_439-10616dupCTTCCTTCCTTCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74574883	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	342	0.0029	21	c.438 others(40): Show c.438+31753_438+31773dupTTTTTTTTTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI3_chr7_41955949_42242209	41956868	C C	CGGAGGGC others(14): Show CGGAGGGCCCCAGGGTGAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA20129.hp2 HG02258.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0014 a0004c0004t0014 a0001c0001t0014 a0004c0004t0014	a0001c0001t0014g0112 a0004c0004t0014g0085 a0001c0001t0014g0112 a0004c0004t0014g0085	2	158	0.0127	21	c.74 others(32): Show c.7461_*7462insAAGCTCACCCTGGGGCCCTCC	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding		4080		chr7	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02109.hp2 others(15): Show HG01123.hp1 HG01891.hp1 HG02109.hp2 HG02148.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0001 a0003c0004 a0001c0005 a0002c0001 a0003c0004	a0001c0005t0001 a0002c0001t0001 a0003c0004t0002 a0001c0005t0001 a0002c0001t0001 a0003c0004t0002	a0001c0005t0001g0013 a0001c0005t0001g0053 a0002c0001t0001g0035 others(4): Show a0001c0005t0001g0013 a0001c0005t0001g0053 a0002c0001t0001g0035 a0003c0004t0002g0012 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0052	18	394	0.0457	21	c.-37 others(36): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGTTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLIS1_chr1_53501239_53744164	53543226	A A	AGTCCTCC others(14): Show AGTCCTCCCTCACGGGGAAGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20300.hp2 HG03579.hp2 NA20300.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0011 a0002c0002 a0009c0011	a0002c0002t0002 a0009c0011t0002 a0002c0002t0002 a0009c0011t0002	a0002c0002t0002g0186 a0009c0011t0002g0135 a0002c0002t0002g0186 a0009c0011t0002g0135	2	236	0.0085	21	c.132 others(42): Show c.1321-13295_1321-13275dupCACTTCCCCGTGAGGGAGGAC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	4/10			chr1	TogoVar
GLIS3_chr9_3819127_4305068	3860272	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00423.hp1 HG00423.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0163 a0002c0002t0003g0135 a0001c0001t0003g0163 a0002c0002t0003g0135	2	188	0.0106	21	c.229 others(40): Show c.2298-4109_2298-4089dupTTTTTTTTTTTTTTTTTTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3896670	T T	TAATTAAA others(14): Show TAATTAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0087 a0002c0002t0053g0087	1	188	0.0053	21	c.212 others(40): Show c.2128+2020_2128+2021insTTTTTTTTTTTTTTTTTAATT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	7/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0155 a0001c0001t0078g0155	1	188	0.0053	21	c.171 others(42): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059804	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19004.hp1 HG03669.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0082 a0001c0001t0003 a0002c0002t0082	a0001c0001t0003g0123 a0002c0002t0082g0118 a0001c0001t0003g0123 a0002c0002t0082g0118	2	188	0.0106	21	c.171 others(42): Show c.1710+57963_1710+57964insCACACACACACACACACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLMP_chr1_156287688_156300679	156296579	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	21	c.-93 others(30): Show c.-935_-934insATATATATATATATATTTTTT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		901		chr1	TogoVar
GLO1_chr6_38670925_38708145	38707685	G G	GAAGAAAG others(14): Show GAAGAAAGAAAGAAAGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	410	0.0024	21	c.-46 others(32): Show c.-4632_-4631insTCCTTTCTTTCTTTCTTTCTT	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		4541		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	269	0.0037	21	c.201 others(38): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLP1R_chr6_39043781_39096303	39050197	G G	GCGCCCCC others(14): Show GCGCCCCCAGCCAGGCCTTGGT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0051 a0002c0001t0002g0051	1	438	0.0023	21	c.78+ others(36): Show c.78+1280_78+1300dupCGCCCCCAGCCAGGCCTTGGT	GLP1R	ENSG00000112164.6	transcript	ENST00000373256.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLP2R_chr17_9820924_9897099	9873556	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG00741.hp2 others(3): Show HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01516.hp2 HG02738.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0017 a0002c0002t0003 a0002c0002t0017	a0002c0002t0003g0124 a0002c0002t0003g0134 a0002c0002t0003g0172 others(3): Show a0002c0002t0003g0124 a0002c0002t0003g0134 a0002c0002t0003g0172 a0002c0002t0003g0186 a0002c0002t0003g0206 a0002c0002t0017g0228	6	380	0.0158	21	c.114 others(40): Show c.1145+2724_1145+2744dupTTTTTTTTTTTTTTTTTTTTT	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849148	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	284	0.0035	21	c.912 others(38): Show c.912+2241_912+2242insAGAAAGAAAGAAAGAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(14): Show TTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20905.hp2 HG02965.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0056 a0001c0005t0001g0179 a0001c0001t0001g0056 a0001c0005t0001g0179	2	284	0.0070	21	c.912 others(38): Show c.912+2226_912+2227insGAAAGAAAGAAAGAAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849456	C C	CTTTCCTT others(14): Show CTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19056.hp1 NA19064.hp2 others(1): Show NA18969.hp1 NA19056.hp1 NA19064.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0218 a0001c0001t0002g0252 others(1): Show a0001c0001t0001g0017 a0001c0001t0002g0218 a0001c0001t0002g0252 a0001c0001t0002g0260	4	284	0.0141	21	c.912 others(38): Show c.912+1933_912+1934insAGGAAAGGAAAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151884452	A A	ACAAAACA others(14): Show ACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	284	0.0035	21	c.252 others(38): Show c.252+2268_252+2269insGTTTTGTTTTGTTTTGTTTTG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	3/8			chr5	TogoVar
GLRX2_chr1_193091470_193110414	193098129	A A	AAATTGTT others(14): Show AAATTGTTCATGGTTATCAGGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	386	0.0026	21	c.184 others(36): Show c.184-370_184-369insACCTGATAACCATGAACAATT	GLRX2	ENSG00000023572.10	transcript	ENST00000367439.8	protein_coding	2/3			chr1	TogoVar
GLS2_chr12_56465952_56493161	56488675	T T	TAGAGAGG others(14): Show TAGAGAGGAGGGTGCTGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02723.hp1 others(2): Show HG02109.hp2 HG02145.hp1 HG02723.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	5	362	0.0138	21	c.-55 others(30): Show c.-558_-557insCGAGGCAGCACCCTCCTCTCT	GLS2	ENSG00000135423.13	transcript	ENST00000311966.9	protein_coding		515		chr12	TogoVar
GLS_chr2_190875821_190970552	190880872	C C	CGCAGCAG others(14): Show CGCAGCAGCAGCAGCAGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0125 a0001c0001t0071g0125	1	380	0.0026	21	c.-18 others(30): Show c.-185_-165dupGCAGCAGCAGCAGCAGCAGCA	GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	1/18	164	INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0195 a0001c0001t0014g0195	1	320	0.0031	21	c.217 others(38): Show c.217+5500_217+5501insAAATATATATATATATATATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	320	0.0031	21	c.217 others(38): Show c.217+5500_217+5501insATATATATATATATATATATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	320	0.0031	21	c.217 others(38): Show c.217+5499_217+5500insTATATATATATATATATATAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11			chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18522.hp1 HG04115.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0123 a0002c0003t0004g0153 a0001c0001t0002g0123 a0002c0003t0004g0153	2	320	0.0063	21	c.781 others(38): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01071.hp2 others(14): Show HG00280.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01258.hp2 HG01433.hp2 HG02602.hp1 HG02717.hp1 HG03139.hp1 HG03486.hp1 HG03490.hp1 HG04115.hp2 NA19007.hp2 NA19067.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0002c0007t0005	a0001c0001t0001g0194 a0001c0001t0001g0274 a0001c0001t0001g0280 others(14): Show a0001c0001t0001g0194 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0002g0086 a0001c0001t0002g0235 a0001c0001t0003g0158 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0010g0307 a0001c0002t0001g0065 a0001c0002t0001g0089 a0001c0002t0003g0121 a0001c0002t0003g0230 a0001c0002t0003g0271 a0002c0007t0005g0212	17	320	0.0531	21	c.781 others(38): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAGAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128973179	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG01433.hp1 others(9): Show HG00735.hp1 HG01071.hp2 HG01433.hp1 HG02004.hp2 HG02056.hp2 HG02738.hp1 HG02738.hp2 NA18947.hp2 NA18977.hp2 NA19085.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0002t0003	a0001c0001t0002g0279 a0001c0001t0003g0215 a0001c0001t0003g0253 others(9): Show a0001c0001t0002g0279 a0001c0001t0003g0215 a0001c0001t0003g0253 a0001c0001t0003g0273 a0001c0001t0003g0293 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0005g0126 a0001c0001t0005g0173 a0001c0001t0016g0243 a0001c0001t0018g0259 a0001c0002t0003g0138	12	320	0.0375	21	c.880 others(38): Show c.880-9743_880-9723dupTTTTTTTTTTTTTTTTTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104032466	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01175.hp2 others(3): Show HG00140.hp2 HG01109.hp2 HG01175.hp2 HG01943.hp1 HG02486.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090	6	416	0.0144	21	c.-16 others(42): Show c.-163-10996_-163-10976dupTTTTTTTTTTTTTTTTTTTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLUL_chr1_182373098_182396790	182391988	G G	GGGCGTGG others(14): Show GGGCGTGGGGGAGGGGCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0054 a0001c0001t0040g0054	1	400	0.0025	21	c.-34 others(30): Show c.-344_-324dupGCCCTGCCCCTCCCCCACGCC	GLUL	ENSG00000135821.19	transcript	ENST00000331872.11	protein_coding		199		chr1	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp1 others(25): Show HG00099.hp1 HG00280.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG01255.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG03098.hp2 HG03239.hp1 HG03688.hp2 NA18942.hp1 NA18959.hp2 NA18969.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18998.hp1 NA19004.hp2 NA19010.hp1 NA19058.hp1 NA20805.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0033 a0006c0012t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0036 others(23): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0284 a0001c0001t0003g0081 a0001c0001t0007g0212 a0001c0001t0033g0139 a0006c0012t0001g0171	28	390	0.0718	21	c.107 others(40): Show c.1073-1520_1073-1519insAAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TCAAAAAA others(14): Show TCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	390	0.0026	21	c.107 others(40): Show c.1073-1536_1073-1535insCAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13			chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TCTAAAAA others(14): Show TCTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18944.hp2 NA18747.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0133 a0001c0001t0007g0066 a0001c0001t0001g0133 a0001c0001t0007g0066	2	390	0.0051	21	c.107 others(40): Show c.1073-1536_1073-1535insCTAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13			chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0185 a0001c0007t0014g0185	1	390	0.0026	21	c.107 others(40): Show c.1073-1536_1073-1535insTAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13			chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 NA19085.hp1 HG03688.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	452	0.0044	21	c.-17 others(30): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652582	T T	TATATATT others(14): Show TATATATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	166	0.0060	21	c.988 others(40): Show c.988-28043_988-28042insTATATATTATATATAATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1722260	A A	ATTATTAT others(14): Show ATTATTATTATTATTATTATTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01952.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG01952.hp1 HG01952.hp2 HG02615.hp2 HG02698.hp1 HG02965.hp1 NA18994.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0052 a0001c0002t0001g0021 a0001c0002t0001g0030 others(6): Show a0001c0001t0001g0052 a0001c0002t0001g0021 a0001c0002t0001g0030 a0001c0002t0001g0113 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0156 a0001c0002t0002g0059	9	166	0.0542	21	c.987 others(38): Show c.987+4155_987+4156insAAATAATAATAATAATAATAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	166	0.0060	21	c.345 others(40): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG03209.hp2 others(2): Show HG01261.hp2 HG01433.hp1 HG03209.hp2 NA18979.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0002t0001g0065 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0150	5	166	0.0301	21	c.345 others(40): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar

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