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
GLIS3_chr9_3819127_4305068	4259244	C C	CTTTTATT others(17): Show CTTTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0028 a0002c0002 a0012c0028	a0002c0002t0030 a0012c0028t0006 a0002c0002t0030 a0012c0028t0006	a0002c0002t0030g0007 a0012c0028t0006g0077 a0002c0002t0030g0007 a0012c0028t0006g0077	2	188	0.0106	24	c.388 others(43): Show c.388+26793_388+26794insAAATAAATAAATAAATAAATAAAA	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02630.hp2 NA18949.hp2 HG01361.hp1 HG02630.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	24	c.-96 others(33): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.-96 others(33): Show c.-963_-962insCTCTCTCTCTCTCTCTCTATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 NA18965.hp2 NA19000.hp2 others(1): Show HG01952.hp2 NA18965.hp2 NA19000.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	396	0.0101	24	c.-96 others(33): Show c.-963_-962insCTCTCTCTCTCTCTCTATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.-96 others(33): Show c.-963_-962insCTCTCTCTCTCTCTATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA18970.hp1 HG01981.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	24	c.-96 others(33): Show c.-963_-962insCTCTCTCTCTCTATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.-96 others(33): Show c.-963_-962insCTCTCTCTCTATATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLO1_chr6_38670925_38708145	38678382	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	410	0.0024	24	c.467 others(40): Show c.467-1000_467-999insTTTCCTTCCTTCCTTCCTTCCTTC	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	5/5			chr6	TogoVar
GLO1_chr6_38670925_38708145	38693685	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	410	0.0024	24	c.85- others(39): Show c.85-6712_85-6711insTATATATATATAGAGAGAGAGAGA	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5			chr6	TogoVar
GLO1_chr6_38670925_38708145	38693685	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	410	0.0024	24	c.85- others(39): Show c.85-6712_85-6711insTATATATAGAGAGAGAGAGAGAGA	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5			chr6	TogoVar
GLO1_chr6_38670925_38708145	38705299	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	410	0.0024	24	c.-22 others(35): Show c.-2246_-2245insAAAGAAAGAAAGAAAGAAAGAAAG	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		2155		chr6	TogoVar
GLO1_chr6_38670925_38708145	38707703	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	410	0.0024	24	c.-46 others(35): Show c.-4650_-4649insTTTCTTTCTTTCTTTCTTTCTTTC	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		4559		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01167.hp1 others(13): Show HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG02165.hp1 HG02559.hp1 HG02615.hp2 HG02897.hp2 HG03209.hp1 HG03540.hp2 NA18612.hp1 NA18955.hp1 NA18969.hp1 NA18982.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0125 a0001c0001t0001g0139 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0175 a0002c0002t0002g0144	16	269	0.0595	24	c.201 others(41): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLP2R_chr17_9820924_9897099	9873556	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0201 a0002c0002t0003g0201	1	380	0.0026	24	c.114 others(43): Show c.1145+2744_1145+2745insTTTTTTTTTTTTTTTTTTTTTTTT	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151819796	A A	AGAGGGAG others(17): Show AGAGGGAGTTTAGATACTATACTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	284	0.0035	24	c.28 others(35): Show c.2876_*2877insGTAGTATAGTATCTAAACTCCCTC	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding		2716		chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp1 HG02056.hp2 others(7): Show HG00558.hp1 HG01261.hp1 HG02056.hp2 HG02165.hp2 HG02559.hp2 HG03195.hp2 NA18948.hp2 NA18953.hp2 NA18962.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0064 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0121	10	284	0.0352	24	c.912 others(41): Show c.912+2203_912+2226dupGAAAGAAAGAAAGAAAGAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849249	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02280.hp1 HG02698.hp2 others(6): Show HG00099.hp1 HG02280.hp1 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG03516.hp2 HG03704.hp2 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0125 a0001c0001t0001g0126	9	284	0.0317	24	c.912 others(41): Show c.912+2140_912+2141insAAGGGAAGGAAGGAAGGAAGGAAG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(17): Show TTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp1 HG02897.hp1 others(3): Show HG01243.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp1 NA18939.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0002g0259 a0001c0001t0002g0262	6	284	0.0211	24	c.912 others(41): Show c.912+1937_912+1938insGGAAAGGAAAGGAAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151893283	A A	ACTTTCTT others(17): Show ACTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	284	0.0035	24	c.57- others(37): Show c.57-869_57-846dupAAAGAAAGAAAGAAAGAAAGAAAG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	1/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681906	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0207 a0001c0001t0020g0207	1	232	0.0043	24	c.931 others(41): Show c.931-8803_931-8802insTATATATATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0191 a0001c0002t0043g0191	1	232	0.0043	24	c.931 others(41): Show c.931-8799_931-8798insAATATATATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRB_chr4_157071150_157177090	157163829	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG02896.hp1 HG02486.hp2 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0073 a0001c0001t0003g0174 a0001c0001t0016g0176 a0001c0001t0003g0073 a0001c0001t0003g0174 a0001c0001t0016g0176	3	306	0.0098	24	c.119 others(43): Show c.1198-6602_1198-6579dupGTGTGTGTGTGTGTGTGTGTGTGT	GLRB	ENSG00000109738.11	transcript	ENST00000264428.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	320	0.0031	24	c.217 others(41): Show c.217+3376_217+3399dupCTTTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128908323	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA20129.hp2 HG02004.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0122 a0001c0002t0003g0113 a0001c0002t0001g0122 a0001c0002t0003g0113	2	320	0.0063	24	c.376 others(41): Show c.376-4078_376-4077insTTTCTTTCTTTCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956158	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp1 HG02080.hp2 others(12): Show HG00099.hp1 HG01261.hp1 HG02080.hp2 HG02109.hp2 HG02258.hp1 HG02886.hp2 HG03098.hp2 HG03834.hp1 NA18942.hp1 NA18949.hp1 NA18950.hp1 NA18989.hp1 NA18994.hp1 NA19030.hp2 NA19068.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0010 a0004c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0002t0001 a0001c0002t0017 a0002c0003t0002 a0002c0003t0008 a0004c0010t0001 a0004c0015t0001	a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0001g0193 others(12): Show a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0001g0193 a0001c0001t0003g0257 a0001c0001t0004g0180 a0001c0001t0005g0096 a0001c0001t0019g0012 a0001c0002t0001g0117 a0001c0002t0001g0304 a0001c0002t0017g0063 a0002c0003t0002g0268 a0002c0003t0008g0320 a0004c0010t0001g0109 a0004c0010t0001g0110 a0004c0015t0001g0166	15	320	0.0469	24	c.781 others(41): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAA	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(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0263 a0001c0001t0004g0263	1	320	0.0031	24	c.781 others(41): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620195	G G	GTCTCCCC others(17): Show GTCTCCCCCTTCTCCCCCTACTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG04199.hp2 HG03710.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0203 a0001c0001t0002g0030 a0001c0001t0002g0203	2	436	0.0046	24	c.39 others(35): Show c.3901_*3902insAGGAGTAGGGGGAGAAGGGGGAGA	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3452		chr9	TogoVar
GLT8D2_chr12_103983987_104055187	104007233	G G	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp1 HG03491.hp2 others(7): Show HG00621.hp1 HG02074.hp1 HG03491.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18975.hp2 NA18982.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0003g0166 others(7): Show a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0195 a0001c0001t0003g0199	10	416	0.0240	24	c.113 others(41): Show c.113-3951_113-3928dupAGAGAGAGAGAGAGAGAGAGAGAG	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	4/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016774	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	416	0.0024	24	c.20- others(39): Show c.20-1670_20-1669insCTTCCTTCTTTCTTTCTTTCTTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016774	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	416	0.0024	24	c.20- others(39): Show c.20-1670_20-1669insCTTCCTTCCTTCTTTCTTTCTTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016826	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	416	0.0024	24	c.20- others(39): Show c.20-1745_20-1722dupCTTTCTTTCTTTCTTTCTTTCTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016863	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	416	0.0024	24	c.20- others(39): Show c.20-1759_20-1758insCCTTTCTTTCTTTCTTTCTTTCTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104032466	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	416	0.0024	24	c.-16 others(45): Show c.-163-10999_-163-10976dupTTTTTTTTTTTTTTTTTTTTTTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104045918	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	416	0.0024	24	c.-16 others(43): Show c.-164+3976_-164+3977insCTTCTTTCTTTCTTTCTTTCTTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLYAT_chr11_58703757_58736943	58728851	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04115.hp1 NA18954.hp1 others(2): Show HG01099.hp1 HG04115.hp1 NA18954.hp1 NA18980.hp2 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0007 a0002c0002t0002 a0007c0009t0002 a0001c0001t0007 a0002c0002t0002 a0007c0009t0002	a0001c0001t0007g0222 a0002c0002t0002g0116 a0002c0002t0002g0141 others(2): Show a0001c0001t0007g0222 a0002c0002t0002g0116 a0002c0002t0002g0141 a0002c0002t0002g0142 a0007c0009t0002g0140	5	364	0.0137	24	c.-16 others(41): Show c.-16+2960_-16+2983dupTCTTTCTTTCTTTCTTTCTTTCTT	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728889	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	364	0.0028	24	c.-16 others(41): Show c.-16+2945_-16+2946insCTTCTTTCTTTCTTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728889	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19067.hp2 NA18987.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0187 a0002c0002t0002g0104 a0001c0001t0001g0187 a0002c0002t0002g0104	2	364	0.0055	24	c.-16 others(41): Show c.-16+2945_-16+2946insCTTCCTTCTTTCTTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728889	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	364	0.0028	24	c.-16 others(41): Show c.-16+2945_-16+2946insCTTCCTTCCTTCCTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19030.hp1 NA19068.hp1 others(1): Show HG00438.hp2 NA19030.hp1 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0034 a0001c0001t0001 a0001c0001t0021 a0001c0001t0034	a0001c0001t0001g0149 a0001c0001t0001g0186 a0001c0001t0021g0178 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0186 a0001c0001t0021g0178 a0001c0001t0034g0203	4	390	0.0103	24	c.107 others(43): Show c.1073-1520_1073-1519insAAAAAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	452	0.0022	24	c.-17 others(33): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652519	T T	TTATATAT others(17): Show TTATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	166	0.0060	24	c.988 others(43): Show c.988-27980_988-27979insTATATATAATATATATTATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1652698	T T	TATAATAT others(17): Show TATAATATATATTATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	166	0.0060	24	c.988 others(43): Show c.988-28159_988-28158insTTATATATAAATAATATATATTAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1722260	A A	ATTATTAT others(17): Show ATTATTATTATTATTATTATTATTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18612.hp2 HG01496.hp1 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0064 a0001c0002t0001g0047 a0001c0002t0001g0064	2	166	0.0121	24	c.987 others(41): Show c.987+4155_987+4156insAAATAATAATAATAATAATAATAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2010323	T T	TCTCAAAA others(17): Show TCTCAAAAAAAAAAAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	166	0.0060	24	c.346 others(43): Show c.346-49381_346-49358dupTTCTTTCTTTTTTTTTTTTTTGAG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00738.hp2 others(5): Show HG00140.hp1 HG00323.hp1 HG00738.hp2 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0073 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0002g0060 a0001c0001t0002g0088 a0001c0002t0001g0005	8	166	0.0482	24	c.346 others(43): Show c.346-52983_346-52960dupATATATATATATATATATATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01934.hp2 others(2): Show HG01243.hp1 HG01243.hp2 HG01934.hp2 HG03834.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0002t0001g0152 a0001c0002t0001g0162	5	166	0.0301	24	c.345 others(43): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG00639.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0155 a0001c0002t0001g0142 a0001c0001t0001g0155 a0001c0002t0001g0142	2	166	0.0121	24	c.345 others(43): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28670153	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02148.hp1 HG02293.hp1 others(2): Show HG01433.hp2 HG02148.hp1 HG02293.hp1 NA18975.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(2): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0214 a0001c0001t0005g0213	5	290	0.0172	24	c.-31 others(41): Show c.-31+1337_-31+1338insATTTATTTATTTATTTATTTATTT	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28670173	A A	ATTTATTT others(17): Show ATTTATTTATTTATTTATTTATTTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	290	0.0035	24	c.-31 others(41): Show c.-31+1337_-31+1338insATTTATTTATTTATTTATTTGTTT	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMFG_chr19_39323359_39341043	39326712	G G	GGGGGAGG others(17): Show GGGGGAGGGGGGAGAGGGAAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	374	0.0027	24	c.17 others(35): Show c.1764_*1765insTCCCCTTCCCTCTCCCCCCTCCCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1646		chr19	TogoVar

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