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
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	124	0.0081	34	c.-44 others(51): Show c.-44+8238_-44+8239insTATATATATATATATATATATATATATA TATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP8_chr7_150445630_150484393	150476659	T T	TTGAGTGA others(27): Show TTGAGTGAGAAGATGTAGTTTGTAAAGGGAACAGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0172 a0011c0018t0001g0172	1	370	0.0027	34	c.131 others(51): Show c.1310-433_1310-432insTGAGTGAGAAGATGTAGTTTGTAAAGGG AACAGA	GIMAP8	ENSG00000171115.4	transcript	ENST00000307271.4	protein_coding	4/4			chr7	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATACACA others(27): Show TATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0186 a0002c0002t0002g0186	1	197	0.0051	34	c.-8+ others(49): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTAT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(27): Show TATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0184 a0002c0002t0002g0184	1	197	0.0051	34	c.-8+ others(49): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATAT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18981.hp2 NA19070.hp2 others(1): Show HG04184.hp2 NA18981.hp2 NA19070.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0054 a0001c0001t0004g0287 a0001c0002t0001g0180 a0001c0001t0004g0054 a0001c0001t0004g0287 a0001c0002t0001g0180	4	166	0.0241	34	c.205 others(51): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCCTTCTTCCTTCTTCTTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	242	0.0041	34	c.41 others(45): Show c.4102_*4103insAGAAGAAAGAAGAAGGAAGAAGGAAAGAAAGAAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GJC1_chr17_44793448_44835287	44830222	G G	GCCGCTCC others(27): Show GCCGCTCCCGCCGCTGCCGCCGCCGCCGCCGCCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0021 a0001c0001t0052g0021	1	378	0.0026	34	c.-29 others(43): Show c.-291_-258dupGAGGCGGCGGCGGCGGCGGCAGCGGCGGGAGCGG	GJC1	ENSG00000182963.11	transcript	ENST00000592524.6	protein_coding	1/3	24406		chr17	TogoVar
GK_chrX_30648423_30736462	30664101	T T	TTTATAGA others(27): Show TTTATAGATATATATTTTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	272	0.0037	34	c.79- others(49): Show c.79-1408_79-1407insATAGATATATATTTTATATATATCTATATA TATT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG02886.hp2 others(3): Show HG01243.hp1 HG02615.hp2 HG02886.hp2 HG03453.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0002g0056 a0001c0001t0002g0094 a0001c0001t0002g0097 others(3): Show a0001c0001t0002g0056 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0004g0180 a0001c0001t0005g0029 a0001c0001t0011g0030	6	82	0.0732	34	c.851 others(51): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT ATATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(27): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	2	278	0.0072	34	c.194 others(49): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01175.hp2 others(9): Show HG00140.hp1 HG00735.hp2 HG01175.hp2 HG02145.hp2 HG02300.hp2 HG03139.hp2 NA18946.hp1 NA18980.hp2 NA19011.hp1 NA19060.hp1 NA19062.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0048 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0003g0062	12	361	0.0332	34	c.76- others(49): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG03688.hp1 HG02148.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0222 a0001c0001t0004g0275 a0001c0001t0001g0222 a0001c0001t0004g0275	2	230	0.0087	34	c.-26 others(45): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18982.hp2 HG01123.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0322 a0001c0001t0013g0288 a0001c0001t0006g0322 a0001c0001t0013g0288	2	38	0.0526	34	c.775 others(51): Show c.775-1805_775-1804insTATATATATATATATATATATATATATA TATATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74540025	T T	TTTTATAT others(27): Show TTTTATATATATATATATTATATATATATATTATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0087 a0001c0003t0053g0087	1	166	0.0060	34	c.439 others(51): Show c.439-7873_439-7872insTATAATATATATATATAATATATATATA TATAAA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(27): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	19	0.0526	34	c.171 others(55): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	34	c.-96 others(43): Show c.-963_-962insCTCTCTCTCTCTCTCTCTATATATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLO1_chr6_38670925_38708145	38707632	G G	GGAAAGAG others(27): Show GGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	407	0.0025	34	c.-45 others(45): Show c.-4579_-4578insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTTTC	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		4488		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01071.hp2 others(3): Show HG00642.hp1 HG01070.hp2 HG01071.hp2 HG02040.hp1 HG02132.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0061 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0104 a0001c0001t0001g0110	6	15	0.4000	34	c.201 others(51): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLP2R_chr17_9820924_9897099	9879291	T T	TAAAATAA others(27): Show TAAAATAAAATAAAATAAAATAAAATAAAATAATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	277	0.0036	34	c.114 others(53): Show c.1146-1084_1146-1083insATAAAATAAAATAAAATAAAATAAAA TAATAAAA	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLP2R_chr17_9820924_9897099	9879291	T T	TAAAATAA others(27): Show TAAAATAAAATAAAATAAAATAAAATAATAAAATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20300.hp2 HG01433.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0162 a0001c0001t0001g0182	2	278	0.0072	34	c.114 others(53): Show c.1146-1084_1146-1083insATAAAATAAAATAAAATAAAATAATA AAATAAAA	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLP2R_chr17_9820924_9897099	9879292	A A	AAAATAAA others(27): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 NA18951.hp1 HG01175.hp2 HG01261.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0180 a0001c0001t0001g0270 a0001c0001t0001g0133 a0001c0001t0001g0180 a0001c0001t0001g0270	3	367	0.0082	34	c.114 others(53): Show c.1146-1084_1146-1083insATAAAATAAAATAAAATAAAATAAAA TAAAATAA	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(27): Show TTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	171	0.0058	34	c.912 others(51): Show c.912+1937_912+1938insGGAAGGAAGGAAGGAAGGAAGGAAAGGA AAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(27): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02615.hp1 NA19005.hp2 HG02293.hp1 HG02615.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0251 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0251	3	173	0.0173	34	c.912 others(51): Show c.912+1937_912+1938insGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTCC others(27): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG02630.hp2 others(2): Show HG01243.hp1 HG01256.hp1 HG02630.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0113 a0001c0001t0002g0188	5	215	0.0233	34	c.912 others(51): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14717580	A A	AAGTTTAT others(27): Show AAGTTTATTTTGTCATAGAGTTGTATATAGTTATG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01891.hp1 others(31): Show HG01070.hp1 HG01106.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA19030.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0067 others(31): Show a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0006g0017 a0001c0001t0009g0011 a0001c0001t0015g0195	34	230	0.1478	34	c.108 others(55): Show c.1081-12623_1081-12590dupTTATTTTGTCATAGAGTTGTATAT AGTTATGAGT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128874124	C C	CTCTCTCC others(27): Show CTCTCTCCCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0320 a0002c0003t0008g0320	1	233	0.0043	34	c.69- others(49): Show c.69-1787_69-1786insCTCCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLYR1_chr16_4798203_4852288	4804933	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 NA19030.hp1 HG01257.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0055 a0001c0001t0015g0168 a0001c0001t0015g0055 a0001c0001t0015g0168	2	128	0.0156	34	c.26 others(43): Show c.269_*302dupCACACACACACACACACACACACACACACACACA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	16/16	302		chr16	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02486.hp2 HG03831.hp1 others(1): Show HG02004.hp1 HG02486.hp2 HG03831.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0002g0000 a0002c0002t0008g0000	4	29	0.1379	34	c.-17 others(43): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	2	0.5000	34	c.346 others(53): Show c.346-52993_346-52960dupATATATATATATATATATATATATAT ATATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28692538	A A	AAAAAAAT others(27): Show AAAAAAATTATTAGATTGACTAGCCAAAAAAATAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0283 a0001c0001t0024g0283	1	288	0.0035	34	c.337 others(49): Show c.337-402_337-369dupAAAAATTATTAGATTGACTAGCCAAAAAAA TACA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB2_chr20_63582605_63632101	63607847	C C	CCCACACC others(27): Show CCCACACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0150 a0001c0003t0002g0150	1	252	0.0040	34	c.132 others(51): Show c.132-3008_132-3007insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608329	A A	ATCCATTT others(27): Show ATCCATTTCTAGAAACATGCCCCTCTGACCTCACC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03704.hp1 HG02083.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0126 a0001c0003t0002g0149 a0001c0003t0002g0126 a0001c0003t0002g0149	2	277	0.0072	34	c.132 others(51): Show c.132-3490_132-3489insGGTGAGGTCAGAGGGGCATGTTTCTAGA AATGGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608627	C C	CCCACACC others(27): Show CCCACACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG03195.hp2 others(1): Show HG01891.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0011 a0001c0004t0004g0084 a0001c0004t0004g0087 a0001c0004t0004g0011 a0001c0004t0004g0084 a0001c0004t0004g0087	4	328	0.0122	34	c.132 others(51): Show c.132-3788_132-3787insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608788	C C	CCCCTGAC others(27): Show CCCCTGACCCCACACATCCATTTCTAGAAACATGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0140 a0001c0003t0002g0140	1	326	0.0031	34	c.132 others(51): Show c.132-3949_132-3948insACATGTTTCTAGAAATGGATGTGTGGGG TCAGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609043	C C	CTCCATTT others(27): Show CTCCATTTCTAGAAACATGCCCCTCTGACCCCACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18984.hp1 NA19074.hp2 others(1): Show NA18983.hp2 NA18984.hp1 NA19074.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0024 a0001c0003t0002 a0001c0003t0024	a0001c0003t0002g0130 a0001c0003t0002g0139 a0001c0003t0002g0165 others(1): Show a0001c0003t0002g0130 a0001c0003t0002g0139 a0001c0003t0002g0165 a0001c0003t0024g0164	4	253	0.0158	34	c.132 others(51): Show c.132-4204_132-4203insTGTGGGGTCAGAGGGGCATGTTTCTAGA AATGGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609362	T T	TAGAAACA others(27): Show TAGAAACATGTCCCTCTGACCCCACCTCCATTTCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0141 a0001c0003t0002g0141	1	297	0.0034	34	c.132 others(51): Show c.132-4523_132-4522insGGAAATGGAGGTGGGGTCAGAGGGACAT GTTTCT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609616	C C	CACCCCAC others(27): Show CACCCCACATCCATTTCTAGAAACATGCCCCTCTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0074 a0001c0002t0003g0074	1	193	0.0052	34	c.132 others(51): Show c.132-4810_132-4777dupCAGAGGGGCATGTTTCTAGAAATGGATG TGGGGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609787	C C	CCCACACC others(27): Show CCCACACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02280.hp1 others(11): Show HG01496.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0018 a0001c0004t0019 a0001c0004t0004 a0001c0004t0018 a0001c0004t0019	a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0082 others(11): Show a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0082 a0001c0004t0004g0088 a0001c0004t0004g0089 a0001c0004t0004g0090 a0001c0004t0004g0091 a0001c0004t0004g0092 a0001c0004t0004g0096 a0001c0004t0004g0097 a0001c0004t0004g0100 a0001c0004t0004g0101 a0001c0004t0018g0094 a0001c0004t0019g0083	14	321	0.0436	34	c.132 others(51): Show c.132-4948_132-4947insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMFG_chr19_39323359_39341043	39326699	A A	AGGAGGGG others(27): Show AGGAGGGGGGGGGGGGGGGAGGGGGAGAGGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	34	c.17 others(45): Show c.1777_*1778insCCTTCCCTCTCCCCCTCCCCCCCCCCCCCCCTCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1659		chr19	TogoVar
GMFG_chr19_39323359_39341043	39326702	A A	AGGGGGGG others(27): Show AGGGGGGGGAGGGGGAGGGGGAGAGGGAAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	224	0.0045	34	c.17 others(45): Show c.1774_*1775insCTCCCCTTCCCTCTCCCCCTCCCCCTCCCCCCCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1656		chr19	TogoVar
GMNC_chr3_190847737_190867694	190847755	T T	TCTTCCTC others(27): Show TCTTCCTCTAATGGGGGGAAGGGTTAGGAGGGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	486	0.0021	34	c.75 others(45): Show c.7539_*7540insTAACCCTCCTAACCCTTCCCCCCATTAGAGGAAG	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding		4981		chr3	TogoVar
GNA12_chr7_2723105_2849308	2763191	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0276 a0001c0001t0018g0276	1	32	0.0313	34	c.526 others(53): Show c.526-29724_526-29691dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2789132	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	155	0.0065	34	c.525 others(51): Show c.525+5795_525+5796insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAAAAA others(27): Show AAAAAAAATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	33	0.0303	34	c.145 others(51): Show c.145+3450_145+3451insAAAAAATCTATCTATCTATCTATCTATC TATCTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0185 a0001c0001t0003 a0001c0001t0185	a0001c0001t0003g0240 a0001c0001t0185g0016 a0001c0001t0003g0240 a0001c0001t0185g0016	2	25	0.0800	34	c.624 others(53): Show c.624+34970_624+34971insAAAAAAAAAAAAAAAATATATATATA TATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0036 a0001c0001t0031g0036	1	24	0.0417	34	c.624 others(53): Show c.624+34970_624+34971insAAAAAAAAAAAAAATATATATATATA TATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0042 a0001c0001t0176g0042	1	24	0.0417	34	c.624 others(53): Show c.624+34970_624+34971insAAAAAAAAAAAATATATATATATATA TATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0166 a0001c0001t0003 a0001c0001t0166	a0001c0001t0003g0072 a0001c0001t0166g0071 a0001c0001t0003g0072 a0001c0001t0166g0071	2	26	0.0769	34	c.393 others(53): Show c.393+34970_393+34971insAAAAAAAAAAAAAAAATATATATATA TATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0073 a0001c0001t0035g0073	1	25	0.0400	34	c.393 others(53): Show c.393+34970_393+34971insAAAAAAAAAAAAAATATATATATATA TATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0258 a0001c0001t0152g0258	1	25	0.0400	34	c.393 others(53): Show c.393+34970_393+34971insAAAAAAAAAAAATATATATATATATA TATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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