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
GALNT9_chr12_132191372_132334589	132241748	A A	ACACACAC others(36): Show ACACACACTTCCCGGGGCCTTCCCTATACCCATTACACACACGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0002t0001g0079 a0001c0001t0001g0033 a0001c0002t0001g0079	2	72	0.0278	43	c.107 others(62): Show c.1077+6161_1077+6162insGCGTGTGTGTAATGGGTATAGGGAAG GCCCCGGGAAGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241891	C C	CCTTCCCA others(36): Show CCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01192.hp1 others(1): Show HG00639.hp1 HG01099.hp2 HG01192.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0001t0001g0136	4	179	0.0223	43	c.107 others(62): Show c.1077+6018_1077+6019insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243392	G G	GCTCTGTC others(36): Show GCTCTGTCTGGTGGGGGCCCCAGTCCTCCCCGTCCTCCGGAGCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG02735.hp2 others(3): Show HG00733.hp1 HG01175.hp2 HG02735.hp2 HG03017.hp1 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0021 a0001c0041	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0021t0004 a0001c0041t0015	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0006t0001g0098 a0001c0021t0004g0155 a0001c0041t0015g0178	6	166	0.0361	43	c.107 others(62): Show c.1077+4517_1077+4518insAGCTCCGGAGGACGGGGAGGACTGGG GCCCCCACCAGACAGAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243392	G G	GCTCTGTC others(36): Show GCTCTGTCTGGTGGGGGCCCCAGTCCTCCCTGTCCTCCGGAGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	161	0.0062	43	c.107 others(62): Show c.1077+4517_1077+4518insAGCTCCGGAGGACAGGGAGGACTGGG GCCCCCACCAGACAGAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(36): Show ATATATATATATATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0124 a0003c0016t0002g0124	1	130	0.0077	43	c.262 others(62): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAAAAAAAAAAA AAACATATATATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02165.hp2 NA19240.hp2 HG01071.hp2 HG02165.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0215 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0215	3	159	0.0189	43	c.287 others(60): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS8_chr16_90017680_90049960	90047799	G G	GGCGGCGG others(36): Show GGCGGCGGGGCCGCGGTGAGAGGGGGCGGGGGCCGCGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0098 a0001c0002t0007g0098	1	250	0.0040	43	c.44 others(54): Show c.4454_*4455insGCGGCGGGGCCGCGGTGAGAGGGGGCGGGGGCCG CGGTGAGAA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding		2840		chr16	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0029 a0002c0021t0029	a0002c0021t0029g0247 a0002c0021t0029g0247	1	122	0.0082	43	c.699 others(60): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02293.hp2 HG04204.hp2 others(2): Show HG01070.hp2 HG02293.hp2 HG04204.hp2 NA20300.hp2 NA20905.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0009 a0002c0005 a0002c0006 a0002c0009	a0002c0005t0001 a0002c0005t0003 a0002c0006t0001 others(2): Show a0002c0005t0001 a0002c0005t0003 a0002c0006t0001 a0002c0006t0018 a0002c0009t0033	a0002c0005t0001g0229 a0002c0005t0003g0236 a0002c0006t0001g0036 others(2): Show a0002c0005t0001g0229 a0002c0005t0003g0236 a0002c0006t0001g0036 a0002c0006t0018g0245 a0002c0009t0033g0250	5	248	0.0202	43	c.-12 others(54): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(36): Show TCTTTCTTTCTTTCTTCTTTCTTTCTTTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	148	0.0068	43	c.-13 others(54): Show c.-1398_-1397insGAGGGAGGAAGGAAGGAAAGAAAGAAAGAAGAAA GAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTCTT others(36): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	180	0.0056	43	c.34 others(54): Show c.3465_*3466insTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATA6_chr18_22164589_22207528	22204307	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	284	0.0035	43	c.34 others(54): Show c.3484_*3485insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1780		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0330 a0001c0001t0067g0330	1	41	0.0244	43	c.-1- others(60): Show c.-1-33448_-1-33447insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GBE1_chr3_81484703_81766645	81743005	C C	CAATACAC others(36): Show CAATACACATTTGCAAAACACCCCTGAGTACAAATCTCTATTCT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	302	0.0033	43	c.143 others(62): Show c.143+18327_143+18369dupAGAATAGAGATTTGTACTCAGGGGTG TTTTGCAAATGTGTATT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GCA_chr2_162339132_162368123	162366996	A A	ATGATGCA others(36): Show ATGATGCACAAATCACACACAGATTTACTGTAAGAAATAACGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	364	0.0027	43	c.67 others(54): Show c.6753_*6754insTGATGCACAAATCACACACAGATTTACTGTAAGA AATAACGTC	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding		3874		chr2	TogoVar
GCNT2_chr6_10516351_10634368	10582172	T T	TTATATAA others(36): Show TTATATAAAAACATTTATATATTTATATATTATATATTTAAATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG03540.hp1 HG02818.hp1 HG02895.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0168 a0001c0001t0001g0312 a0001c0001t0001g0314	3	322	0.0093	43	c.926 others(62): Show c.926-39170_926-39169insACATTTATATATTTATATATTATATA TTTAAATATATATAAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582172	T T	TTATATAA others(36): Show TTATATAAAAACATTTATATATTTATATATTATATATTTAAATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG03540.hp2 HG02818.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0092 a0001c0001t0001g0317 a0001c0001t0001g0319	3	342	0.0088	43	c.919 others(62): Show c.919+24839_919+24840insACATTTATATATTTATATATTATATA TTTAAATATATATAAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFI1B_chr9_132973694_132996687	132990326	G G	GTCATTCA others(36): Show GTCATTCATTCATTTGTTCACTCATTTGCTCTTCATTTGTTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG03209.hp2 others(1): Show HG02615.hp2 HG02896.hp2 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	4	139	0.0288	43	c.814 others(58): Show c.814+449_814+450insTTCATTTGTTCACTCATTCATTCATTTGTT CACTCATTTGCTC	GFI1B	ENSG00000165702.15	transcript	ENST00000372122.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
GGT5_chr22_24214660_24250082	24238925	A A	ATATAATA others(36): Show ATATAATATATATATAATATATATTATATATATATATATAATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	406	0.0025	43	c.174 others(60): Show c.174-4922_174-4921insATATTATATATATATATATAATATATAT TATATATATATTATA	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(36): Show ATATATATATATATATATGTATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	171	0.0058	43	c.335 others(60): Show c.335-9639_335-9638insAAAAATATATATATATATATATATACAT ATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(36): Show ATATATATATATATATATGTATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18975.hp1 HG00609.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0288 a0001c0002t0001g0023 a0001c0001t0001g0288 a0001c0002t0001g0023	2	172	0.0116	43	c.335 others(60): Show c.335-9639_335-9638insAAAAAAATATATATATATATATATACAT ATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(36): Show ATATATATATATATATGTATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0017 a0001c0002t0017g0017	1	171	0.0058	43	c.335 others(60): Show c.335-9639_335-9638insAAAAATATATATATATATATATATATAC ATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(36): Show ATATATATATATATATGTGTATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	171	0.0058	43	c.335 others(60): Show c.335-9639_335-9638insAAAAAAATATATATATATATATATACAC ATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629958	T T	TGTATATA others(36): Show TGTATATATATATATATATATATGTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	247	0.0040	43	c.335 others(60): Show c.335-9640_335-9639insTATATATATATATATGTATACATATATA TATATATATATATAC	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(36): Show GGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02300.hp1 HG01978.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0309 a0001c0001t0013g0277 a0001c0001t0006g0309 a0001c0001t0013g0277	2	122	0.0164	43	c.439 others(62): Show c.439-10556_439-10555insTTCCTTCCTTCCTCCCTCCCTTCCTT CCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(36): Show GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01496.hp2 HG01981.hp1 others(5): Show HG00323.hp1 HG01496.hp2 HG01981.hp1 HG02486.hp2 HG02622.hp1 HG06807.hp1 NA18950.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0030 a0001c0004t0001 a0001c0001t0001 a0001c0001t0030 a0001c0004t0001	a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0225 others(5): Show a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0225 a0001c0001t0001g0260 a0001c0001t0001g0325 a0001c0001t0030g0173 a0001c0004t0001g0203 a0001c0004t0001g0214	8	128	0.0625	43	c.439 others(62): Show c.439-10556_439-10555insTTCCTTCCTTCCTTCCTTCCTCCCTT CCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(36): Show GGAAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0193 a0001c0001t0006g0193	1	121	0.0083	43	c.439 others(62): Show c.439-10556_439-10555insTTCCTTCCTTCCTCCCTCCCTCCCTT CCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLO1_chr6_38670925_38708145	38707697	A A	AAAGGAAG others(36): Show AAAGGAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	396	0.0025	43	c.-46 others(54): Show c.-4644_-4643insCTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCT TTCTTCCTT	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		4553		chr6	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(36): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	171	0.0058	43	c.912 others(60): Show c.912+1937_912+1938insGGAAGGAAGGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(36): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03490.hp1 NA19070.hp1 HG01109.hp1 HG03490.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0002g0272 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0002g0272	3	173	0.0173	43	c.912 others(60): Show c.912+1937_912+1938insGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTTC others(36): Show TTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01515.hp1 HG01517.hp1 others(3): Show HG00099.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02280.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0048	6	216	0.0278	43	c.912 others(60): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	6	0.1667	43	c.345 others(62): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMFG_chr19_39323359_39341043	39326702	A A	AGGGGGGG others(36): Show AGGGGGGGGGGGGGGGGGAGGGGGAGAGGGAGAGGGGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	43	c.17 others(54): Show c.1774_*1775insCTCCCCTCCCCTCTCCCTCTCCCCCTCCCCCCCC CCCCCCCCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1656		chr19	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0118 a0001c0003t0118	a0001c0003t0118g0096 a0001c0003t0118g0096	1	159	0.0063	43	c.56 others(54): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNG13_chr16_793041_805734	795400	G G	GCCCTCCC others(36): Show GCCCTCCCGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	413	0.0024	43	c.33 others(54): Show c.3318_*3319insTGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC ACGGGAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2640		chr16	TogoVar
GNG2_chr14_51855612_51974795	51942590	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19011.hp2 HG03516.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0038 a0001c0001t0015 a0001c0001t0038	a0001c0001t0015g0132 a0001c0001t0038g0297 a0001c0001t0015g0132 a0001c0001t0038g0297	2	365	0.0055	43	c.-29 others(60): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG7_chr19_2506219_2707694	2553987	T T	TATATAAT others(36): Show TATATAATATATTACACATATGTATATATTATATGTAATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02145.hp2 HG03195.hp2 HG00621.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0060 a0001c0001t0069 a0001c0001t0001 a0001c0001t0060 a0001c0001t0069	a0001c0001t0001g0196 a0001c0001t0060g0023 a0001c0001t0069g0018 a0001c0001t0001g0196 a0001c0001t0060g0023 a0001c0001t0069g0018	3	39	0.0769	43	c.-38 others(60): Show c.-38+1161_-38+1162insTATATATTACATATAATATATACATATG TGTAATATATTATAT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2628616	G G	GGCTCTCC others(36): Show GGCTCTCCAGAACCTTCCATCTTGTAAAACTGAGACACTGTACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02145.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0044 a0001c0001t0019 a0001c0001t0044	a0001c0001t0019g0155 a0001c0001t0044g0193 a0001c0001t0019g0155 a0001c0001t0044g0193	2	204	0.0098	43	c.-78 others(62): Show c.-78+17607_-78+17608insTGTACAGTGTCTCAGTTTTACAAGAT GGAAGGTTCTGGAGAGC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2655859	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	189	0.0053	43	c.-13 others(62): Show c.-134-9580_-134-9579insATATATATATATATATATATATATAT ATATATATATTTTTTTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GOLM2_chr15_44283719_44420758	44288493	C C	CGAGAGAG others(36): Show CGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0086 a0001c0002t0004g0086	1	134	0.0075	43	c.-53 others(52): Show c.-537_-536insGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAG AGAGAGA	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding		225		chr15	TogoVar
GOLT1A_chr1_204193163_204218988	204195186	G G	GCACACAC others(36): Show GCACACACACATATATACGCACACACCCATACACACACATCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02559.hp1 others(8): Show HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0141 a0001c0002t0001g0056 a0001c0002t0001g0161 others(8): Show a0001c0001t0001g0141 a0001c0002t0001g0056 a0001c0002t0001g0161 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0189 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0208 a0001c0002t0001g0215	11	411	0.0268	43	c.32 others(54): Show c.3271_*3272insTATGATGTGTGTGTATGGGTGTGTGCGTATATAT GTGTGTGTG	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2976		chr1	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(36): Show TAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01433.hp1 others(1): Show HG01256.hp2 HG01258.hp2 HG01433.hp1 NA18989.hp1	a0002 a0025 a0002 a0025	a0002c0002 a0025c0030 a0002c0002 a0025c0030	a0002c0002t0001 a0025c0030t0001 a0002c0002t0001 a0025c0030t0001	a0002c0002t0001g0344 a0002c0002t0001g0396 a0002c0002t0001g0397 others(1): Show a0002c0002t0001g0344 a0002c0002t0001g0396 a0002c0002t0001g0397 a0025c0030t0001g0036	4	334	0.0120	43	c.35- others(56): Show c.35-438_35-437insGAACGAGCCCTCCACGTCTAACACGAACGAGT CCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(36): Show TAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	265	0.0038	43	c.35- others(56): Show c.35-515_35-514insCAACGAGCCCACCGCGTCTAACACGAACGAAC CCTCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033081	T T	TAGACGCG others(36): Show TAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0072 a0003c0003t0003g0072	1	425	0.0024	43	c.35- others(56): Show c.35-544_35-543insGAACGAGCCCACCGCGTCTAACACGAACGAAC CCTCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033081	T T	TAGACGCG others(36): Show TAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0092 a0005c0006t0004g0092	1	425	0.0024	43	c.35- others(56): Show c.35-544_35-543insCAACGAGCCCACCGCGTCTAACACGAACGAAC CCTCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033081	T T	TAGACGCG others(36): Show TAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	425	0.0024	43	c.35- others(56): Show c.35-544_35-543insGAACGAGCCCTCCACGTCTAACACGAACGAGT CCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033206	T T	TAGACGCG others(36): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCGTTC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18989.hp2 NA18975.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0393 a0001c0001t0001g0343 a0001c0001t0001g0393	2	379	0.0053	43	c.35- others(56): Show c.35-669_35-668insGAACGAACCCTCCGCGTCTAACACGAACGAGC CCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033336	T T	TAGACGTG others(36): Show TAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGAGGGCTCGTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0263 a0004c0008t0002g0263	1	422	0.0024	43	c.35- others(56): Show c.35-799_35-798insGAACGAGCCCTCCGCGTCTAACACGAACGAGC CCTCCACGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033394	T T	TAGACGCG others(36): Show TAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18994.hp1 NA19056.hp1 HG00438.hp2 NA18994.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0019 a0003c0003 a0003c0019	a0003c0003t0003 a0003c0019t0003 a0003c0003t0003 a0003c0019t0003	a0003c0003t0003g0049 a0003c0019t0003g0080 a0003c0019t0003g0081 a0003c0003t0003g0049 a0003c0019t0003g0080 a0003c0019t0003g0081	3	368	0.0082	43	c.35- others(56): Show c.35-857_35-856insCAACGAGCCCACCGCGTCTAACACGAACGAAC CCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033394	T T	TAGACGCG others(36): Show TAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0051 a0003c0003t0003g0051	1	366	0.0027	43	c.35- others(56): Show c.35-857_35-856insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar

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