Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GLG1_chr16_74442440_74612114	74542760	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	342	0.0029	25	c.439 others(44): Show c.439-10632_439-10608dupCTTCCTTCCTTCCTTCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	342	0.0029	25	c.439 others(44): Show c.439-10634_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542764	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0080 a0001c0002t0010g0081 a0001c0002t0010g0080 a0001c0002t0010g0081	2	342	0.0059	25	c.439 others(44): Show c.439-10636_439-10612dupCTTCCTTCCTTCCTTCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0074 a0001c0003t0003g0074	1	342	0.0029	25	c.439 others(44): Show c.439-10638_439-10614dupTCCTTCCTTCCTTCCTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542770	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04204.hp2 HG01109.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0009 a0001c0003 a0004c0009	a0001c0003t0003 a0004c0009t0003 a0001c0003t0003 a0004c0009t0003	a0001c0003t0003g0069 a0004c0009t0003g0338 a0001c0003t0003g0069 a0004c0009t0003g0338	2	342	0.0059	25	c.439 others(44): Show c.439-10642_439-10618dupTCCTTCCTTCCTTCCTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433203	A A	ATGGGGGG others(18): Show ATGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	360	0.0028	25	c.20 others(36): Show c.2042_*2043insTGGGGGGGGGGGGGGGGGGGGGGGG	GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding		516		chr12	TogoVar
GLIS3_chr9_3819127_4305068	3860272	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0060 a0002c0002t0017g0060	1	188	0.0053	25	c.229 others(44): Show c.2298-4113_2298-4089dupTTTTTTTTTTTTTTTTTTTTTTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3896670	T T	TAATTAAA others(18): Show TAATTAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03669.hp1 HG03669.hp2 HG01109.hp1 HG03669.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0016 a0002c0002t0082 a0001c0001t0005 a0001c0001t0016 a0002c0002t0082	a0001c0001t0005g0170 a0001c0001t0016g0013 a0002c0002t0082g0118 a0001c0001t0005g0170 a0001c0001t0016g0013 a0002c0002t0082g0118	3	188	0.0160	25	c.212 others(44): Show c.2128+2020_2128+2021insTTTTTTTTTTTTTTTTTTTTTAATT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	7/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(18): Show AATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	188	0.0053	25	c.171 others(46): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAAAAA T	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4053705	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0038 a0001c0014t0007g0038	1	188	0.0053	25	c.171 others(46): Show c.1710+64062_1710+64063insTTTTTTTTTTTTTTTTTTTTTTTT T	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4199446	C C	CATATATA others(18): Show CATATATAAGTTATATATAAGTTTAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18906.hp2 HG02083.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0011 a0001c0010t0067 a0001c0001t0011 a0001c0010t0067	a0001c0001t0011g0043 a0001c0010t0067g0108 a0001c0001t0011g0043 a0001c0010t0067g0108	2	188	0.0106	25	c.389 others(44): Show c.389-73530_389-73506dupATAAACTTATATATAACTTATATAT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4276476	G G	GGGAAGGG others(18): Show GGGAAGGGGAGGGGAGGGAAGGGGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01433.hp2 others(32): Show HG00738.hp2 HG01071.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp1 HG02056.hp1 HG02109.hp1 HG02258.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG04115.hp1 HG04228.hp2 NA18941.hp2 NA18946.hp1 NA18961.hp2 NA18964.hp1 NA18975.hp2 NA18986.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19060.hp2 NA19062.hp1 NA19085.hp1 NA19088.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0016 a0018 a0022	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0006c0009 a0016c0023 a0018c0020 a0022c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0028 a0001c0001t0039 a0001c0001t0043 a0001c0001t0047 a0001c0001t0090 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020 a0002c0002t0026 a0002c0002t0041 a0002c0002t0044 a0002c0002t0059 a0003c0004t0006 a0004c0003t0008 a0004c0003t0014 a0006c0009t0004 a0016c0023t0003 a0018c0020t0002 a0022c0027t0064	a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0144 others(32): Show a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0114 a0001c0001t0002g0182 a0001c0001t0003g0106 a0001c0001t0003g0123 a0001c0001t0005g0132 a0001c0001t0007g0045 a0001c0001t0013g0044 a0001c0001t0013g0051 a0001c0001t0028g0125 a0001c0001t0039g0055 a0001c0001t0043g0064 a0001c0001t0047g0049 a0001c0001t0090g0188 a0002c0002t0001g0096 a0002c0002t0001g0105 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0003g0107 a0002c0002t0004g0047 a0002c0002t0020g0029 a0002c0002t0026g0113 a0002c0002t0041g0050 a0002c0002t0044g0052 a0002c0002t0059g0061 a0003c0004t0006g0018 a0003c0004t0006g0058 a0004c0003t0008g0122 a0004c0003t0014g0056 a0006c0009t0004g0028 a0016c0023t0003g0142 a0018c0020t0002g0112 a0022c0027t0064g0126	35	188	0.1862	25	c.388 others(42): Show c.388+9561_388+9562insGTCCCCTTCCCTCCCCTCCCCTTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(32): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02257.hp2 HG02451.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA18947.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp1 NA18999.hp2 NA19060.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0004c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0048 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0178 a0001c0001t0002g0009 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0176 a0002c0002t0002g0034 a0002c0002t0002g0133 a0002c0002t0002g0143 a0002c0002t0002g0147 a0004c0007t0001g0089	35	269	0.1301	25	c.201 others(42): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLOD5_chrX_48756747_48778648	48766996	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18966.hp1 NA19056.hp1 NA18946.hp2 NA18966.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0173 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0173	3	269	0.0112	25	c.201 others(42): Show c.201+1033_201+1034insAAAAAAAAAAAAAAACAAAAAAAAA	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(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0171 a0002c0002t0003g0171	1	380	0.0026	25	c.114 others(44): Show c.1145+2744_1145+2745insTTTTTTTTTTTTTTTTTTTTTTTTT	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18747.hp1 HG02976.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0119 a0001c0005t0001g0166 a0001c0001t0001g0119 a0001c0005t0001g0166	2	284	0.0070	25	c.912 others(42): Show c.912+2226_912+2227insGAAAGAAAGAAAGAAAGAAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(18): Show GTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01167.hp2 others(5): Show HG00408.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG03471.hp2 HG03579.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0186 a0001c0001t0002g0211 a0001c0001t0002g0214 others(5): Show a0001c0001t0002g0186 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0244 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0003g0282 a0001c0001t0003g0283	8	284	0.0282	25	c.912 others(42): Show c.912+1989_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151884427	T T	TCAAAACA others(18): Show TCAAAACAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01081.hp1 others(51): Show HG00423.hp1 HG00558.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02280.hp2 HG02523.hp2 HG02723.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp1 NA18944.hp1 NA18954.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp1 NA18993.hp1 NA18995.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19075.hp2 NA19085.hp1 NA19091.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0049 others(51): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0002g0192 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0002t0001g0135 a0001c0002t0001g0170 a0001c0002t0002g0183 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177	54	284	0.1901	25	c.252 others(42): Show c.252+2269_252+2293dupTTTTGTTTTGTTTTGTTTTGTTTTG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	3/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681906	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	232	0.0043	25	c.931 others(42): Show c.931-8804_931-8803insTATATATATATATATATATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681908	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01981.hp2 NA19091.hp1 HG00609.hp1 HG01981.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0055 a0001c0001t0003g0139 a0001c0001t0020g0048 a0001c0001t0003g0055 a0001c0001t0003g0139 a0001c0001t0020g0048	3	232	0.0129	25	c.931 others(42): Show c.931-8802_931-8801insTATATATATATATATATATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0068 a0001c0001t0015g0068	1	232	0.0043	25	c.931 others(42): Show c.931-8800_931-8799insTATATATATATATATATATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLS_chr2_190875821_190970552	190964917	T T	TAACCATT others(18): Show TAACCATTATTTGGGAACAAAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0180 a0001c0001t0039g0180	1	380	0.0026	25	c.19 others(36): Show c.1932_*1956dupAACCATTATTTGGGAACAAAGAGAG	GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	18/18	1957	INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	320	0.0031	25	c.217 others(42): Show c.217+5500_217+5501insATATATATATATATATATATATATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956158	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 HG03710.hp2 HG02109.hp1 HG03471.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0015 a0001c0002t0005 a0002c0007t0001 a0001c0001t0015 a0001c0002t0005 a0002c0007t0001	a0001c0001t0015g0239 a0001c0002t0005g0020 a0002c0007t0001g0209 a0001c0001t0015g0239 a0001c0002t0005g0020 a0002c0007t0001g0209	3	320	0.0094	25	c.781 others(42): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAA	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(18): Show AAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	320	0.0031	25	c.781 others(42): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAGAGA	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(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	320	0.0031	25	c.880 others(42): Show c.880-9747_880-9723dupTTTTTTTTTTTTTTTTTTTTTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016717	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAAAGGGAGAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	416	0.0024	25	c.20- others(40): Show c.20-1613_20-1612insCTCTCCCTTTCTTTCTTTCTTTCTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLYATL2_chr11_58829065_58849704	58840840	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19043.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0056 a0001c0001t0001g0069	2	380	0.0053	25	c.-40 others(42): Show c.-40-1213_-40-1189dupATTTTATTTTATTTTATTTTATTTT	GLYATL2	ENSG00000156689.7	transcript	ENST00000287275.6	protein_coding	1/5			chr11	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TCTAAAAA others(18): Show TCTAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	390	0.0026	25	c.107 others(44): Show c.1073-1536_1073-1535insCTAAAAAAAAAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13			chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03516.hp1 NA21309.hp1 HG03209.hp2 HG03516.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0004 a0002c0002t0002 a0004c0004t0004	a0002c0002t0002g0000 a0004c0004t0004g0000 a0002c0002t0002g0000 a0004c0004t0004g0000	3	452	0.0066	25	c.-17 others(34): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652557	T T	TATATAAT others(18): Show TATATAATATATATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	25	c.988 others(44): Show c.988-28018_988-28017insTATATATAAATAATATATATTATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1652606	A A	ATATATAT others(18): Show ATATATATTATTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02698.hp2 HG01106.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0122 a0001c0002t0001g0108 a0001c0001t0001g0122 a0001c0002t0001g0108	2	166	0.0121	25	c.988 others(44): Show c.988-28067_988-28066insATATATTATATATAAATAATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02723.hp2 NA18970.hp2 HG02135.hp1 HG02723.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0057 a0001c0002t0001g0103 a0001c0002t0002g0110 a0001c0002t0001g0057 a0001c0002t0001g0103 a0001c0002t0002g0110	3	166	0.0181	25	c.345 others(44): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG02273.hp1 others(2): Show HG01069.hp1 HG01175.hp2 HG02273.hp1 HG03491.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0002t0001g0129 a0001c0002t0001g0133 others(2): Show a0001c0001t0001g0051 a0001c0002t0001g0129 a0001c0002t0001g0133 a0001c0002t0001g0141 a0001c0002t0001g0147	5	166	0.0301	25	c.345 others(44): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28687387	C C	CACACACA others(18): Show CACACACACACAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	290	0.0035	25	c.129 others(42): Show c.129-2716_129-2715insCACACACACAAAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMFG_chr19_39323359_39341043	39326712	G G	GAGGGGGA others(18): Show GAGGGGGAGGGGGAGAGGGAAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	374	0.0027	25	c.17 others(36): Show c.1764_*1765insTCCCCTTCCCTCTCCCCCTCCCCCT	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1646		chr19	TogoVar
GNA12_chr7_2723105_2849308	2812636	A A	AACATCAC others(18): Show AACATCACATCACATCACATCACATC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03579.hp1 NA19062.hp2 HG01169.hp1 HG03579.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0093 a0001c0001t0005g0313 a0001c0001t0008g0050 a0001c0001t0004g0093 a0001c0001t0005g0313 a0001c0001t0008g0050	3	322	0.0093	25	c.310 others(44): Show c.310-17518_310-17494dupGATGTGATGTGATGTGATGTGATGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG01192.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0067 a0001c0003t0001g0302 a0001c0001t0001g0067 a0001c0003t0001g0302	2	450	0.0044	25	c.146 others(42): Show c.146-3231_146-3230insATATATATATATATATATATATATT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18985.hp1 NA19082.hp2 NA18977.hp2 NA18985.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0102 a0001c0002t0001g0265 a0001c0002t0001g0063 a0001c0002t0001g0102 a0001c0002t0001g0265	3	450	0.0067	25	c.146 others(42): Show c.146-3231_146-3230insATATATATATATATATATATATTTT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145360	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03139.hp1 HG03579.hp1 others(1): Show HG02300.hp2 HG03139.hp1 HG03579.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0322 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0322 a0001c0001t0004g0417	4	450	0.0089	25	c.146 others(42): Show c.146-3231_146-3230insATATATATATATATATATATATATA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6			chr19	TogoVar
GNAL_chr18_11684264_11890685	11710868	C C	CTGTTTTG others(18): Show CTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0178 a0001c0001t0178	a0001c0001t0178g0027 a0001c0001t0178g0027	1	248	0.0040	25	c.376 others(44): Show c.376+20930_376+20954dupTGTTTTGTTTTGTTTTGTTTTGTTT	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAQ_chr9_77711097_78036811	77889410	C C	CAAACAAA others(18): Show CAAACAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	282	0.0036	25	c.321 others(44): Show c.321+32750_321+32751insTTTTTTTTTTTTTTTTTTTTTGTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAT2_chr1_109598091_109624616	109615620	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03491.hp2 HG03492.hp2 others(1): Show HG01258.hp2 HG03491.hp2 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	4	344	0.0116	25	c.-53 others(42): Show c.-53-2698_-53-2697insCTTTTCTTTTCTTTTCTTTTCTTTT	GNAT2	ENSG00000134183.13	transcript	ENST00000679935.1	protein_coding	1/8			chr1	TogoVar
GNB1L_chr22_19778223_19859874	19847803	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04184.hp2 HG02602.hp1 HG04184.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0005c0006t0003 a0001c0001t0003 a0005c0006t0003	a0001c0001t0003g0043 a0005c0006t0003g0044 a0001c0001t0003g0043 a0005c0006t0003g0044	2	326	0.0061	25	c.-21 others(42): Show c.-21+6639_-21+6640insTTTTTTTTTTTTTTTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1L_chr22_19778223_19859874	19847804	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0293 a0003c0003t0003g0293	1	326	0.0031	25	c.-21 others(42): Show c.-21+6638_-21+6639insTTTTTTTTTTTTTTTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1_chr1_1780286_1896087	1807463	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	336	0.0030	25	c.204 others(40): Show c.204-950_204-926dupTTTTTTTTTTTTTTTTTTTTTTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	5/11			chr1	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	336	0.0030	25	c.-95 others(44): Show c.-95-25077_-95-25076insTTTTTTTTTTTTTTTTTTTTTTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0126 a0001c0003t0126	a0001c0003t0126g0313 a0001c0003t0126g0313	1	366	0.0027	25	c.56 others(36): Show c.5654_*5655insAAAAAAAAATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNG12_chr1_67696475_67838467	67763120	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18975.hp1 HG03225.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0034 a0001c0001t0006g0182 a0001c0001t0001g0034 a0001c0001t0006g0182	2	274	0.0073	25	c.-27 others(44): Show c.-27+14337_-27+14338insCTCTCTCTCTCTCTCTCTCTCTCTC	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG12_chr1_67696475_67838467	67806526	T T	TAGGGCAG others(18): Show TAGGGCAGAGGGGATGGTCCTGGAGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20752.hp1 HG01258.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0156 a0001c0001t0004g0157 a0001c0001t0002g0156 a0001c0001t0004g0157	2	274	0.0073	25	c.-77 others(44): Show c.-77+26817_-77+26818insCCTCCAGGACCATCCCCTCTGCCCT	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	1/3			chr1	TogoVar

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