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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	74529508	T T	TTGAAGTC others(6): Show TTGAAGTCCTTGTC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	342	0.0029	13	c.471 others(30): Show c.471+2600_471+2612dupGACAAGGACTTCA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	2/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74574883	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	342	0.0029	13	c.438 others(32): Show c.438+31761_438+31773dupTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74575006	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0198 a0001c0001t0038g0198	1	342	0.0029	13	c.438 others(32): Show c.438+31638_438+31650dupCCCCCCCCCCCCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI3_chr7_41955949_42242209	42188002	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0024 a0003c0003t0030g0024	1	158	0.0063	13	c.124 others(32): Show c.124+35115_124+35127dupTTTTTTTTTTTTT	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42230098	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0019 a0005c0008t0019	a0005c0008t0019g0077 a0005c0008t0019g0077	1	158	0.0063	13	c.-42 others(30): Show c.-42-6816_-42-6804dupCCCCCCCCCCCCC	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	1/14			chr7	TogoVar
GLIPR1_chr12_75475755_75508863	75475823	G G	GGCAGGCG others(6): Show GGCAGGCGGATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(199): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0034 a0001c0002t0003 a0002c0004t0003 a0006c0008t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0004g0071 a0001c0001t0004g0082 a0001c0001t0007g0021 a0001c0001t0007g0065 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0175 a0001c0001t0008g0137 a0001c0001t0008g0189 a0001c0001t0009g0004 a0001c0001t0009g0024 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0010g0148 a0001c0001t0010g0151 a0001c0001t0010g0155 a0001c0001t0011g0023 a0001c0001t0012g0080 a0001c0001t0012g0081 a0001c0001t0013g0121 a0001c0001t0014g0118 a0001c0001t0014g0119 a0001c0001t0016g0283 a0001c0001t0016g0284 a0001c0001t0017g0029 a0001c0001t0018g0144 a0001c0001t0018g0150 a0001c0001t0021g0122 a0001c0001t0023g0107 a0001c0001t0024g0020 a0001c0001t0025g0102 a0001c0001t0026g0045 a0001c0001t0028g0062 a0001c0001t0034g0002 a0001c0002t0003g0127 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0139 a0001c0002t0003g0166 a0001c0002t0003g0181 a0002c0004t0003g0145 a0002c0004t0003g0146 a0006c0008t0003g0177	202	362	0.5580	13	c.-50 others(24): Show c.-5058_-5057insGCAGGCGGATCAC	GLIPR1	ENSG00000139278.10	transcript	ENST00000266659.8	protein_coding		4931		chr12	TogoVar
GLIPR1_chr12_75475755_75508863	75475825	C C	CAGGCGGA others(6): Show CAGGCGGATCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0027 a0001c0003t0013 a0001c0003t0027	a0001c0003t0013g0182 a0001c0003t0027g0183 a0001c0003t0013g0182 a0001c0003t0027g0183	2	362	0.0055	13	c.-50 others(24): Show c.-5056_-5055insAGGCGGATCACGT	GLIPR1	ENSG00000139278.10	transcript	ENST00000266659.8	protein_coding		4929		chr12	TogoVar
GLIS3_chr9_3819127_4305068	3860272	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0051 a0003c0025t0051	a0003c0025t0051g0037 a0003c0025t0051g0037	1	188	0.0053	13	c.229 others(32): Show c.2298-4101_2298-4089dupTTTTTTTTTTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3951841	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	188	0.0053	13	c.171 others(34): Show c.1711-14653_1711-14652insGTGTGTGTGTGTG	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4053705	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00735.hp2 others(7): Show HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01884.hp1 HG02735.hp2 HG03688.hp2 NA18941.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0002c0002 a0023c0028 a0001c0001 a0002c0002 a0023c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0001t0063 a0001c0001t0086 a0002c0002t0087 a0023c0028t0006	a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0002g0156 others(7): Show a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0004g0081 a0001c0001t0027g0159 a0001c0001t0063g0143 a0001c0001t0086g0184 a0002c0002t0087g0187 a0023c0028t0006g0077	10	188	0.0532	13	c.171 others(34): Show c.1710+64050_1710+64062dupTTTTTTTTTTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4159030	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0091 a0001c0001t0054g0091	1	188	0.0053	13	c.389 others(32): Show c.389-33090_389-33089insTTTTTTTTTTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar
GLMP_chr1_156287688_156300679	156296579	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	13	c.-93 others(22): Show c.-935_-934insATATATATTTTTT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		901		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296579	A A	AAAAATAT others(6): Show AAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	13	c.-93 others(22): Show c.-935_-934insATATATATATTTT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		901		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296642	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	396	0.0025	13	c.-99 others(22): Show c.-998_-997insCTCTCTCTCTCTC	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		964		chr1	TogoVar
GLO1_chr6_38670925_38708145	38672486	T T	TCAAAGTC others(6): Show TCAAAGTCATCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	410	0.0024	13	c.48 others(24): Show c.4808_*4809insTTTGATGACTTTG	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		3438		chr6	TogoVar
GLO1_chr6_38670925_38708145	38707703	G G	GAGAAAGA others(6): Show GAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	410	0.0024	13	c.-46 others(24): Show c.-4650_-4649insTTTCTTTCTTTCT	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		4559		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 NA19043.hp1 HG02622.hp2 HG02965.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	3	269	0.0112	13	c.201 others(30): Show c.201+1021_201+1033dupAAAAAAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849094	A A	ATTTCTTT others(6): Show ATTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04228.hp1 HG01891.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0002t0001g0153 a0001c0001t0001g0152 a0001c0002t0001g0153	2	284	0.0070	13	c.912 others(30): Show c.912+2295_912+2296insGAAAGAAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849104	T T	TTTTCTTT others(6): Show TTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	284	0.0035	13	c.912 others(30): Show c.912+2285_912+2286insGAAAGAAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849206	T T	TTTTCTTT others(6): Show TTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01891.hp2 NA18963.hp2 others(2): Show HG01256.hp1 HG01891.hp2 NA18963.hp2 NA19067.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0113	5	284	0.0176	13	c.912 others(30): Show c.912+2183_912+2184insGGAAGGAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14724626	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	232	0.0043	13	c.108 others(32): Show c.1081-5567_1081-5555dupAAAAAAAAAAAAA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLS_chr2_190875821_190970552	190942067	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0343 a0001c0001t0028g0343	1	380	0.0026	13	c.165 others(34): Show c.1650+10448_1650+10460dupTTTTTTTTTTTTT	GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128875054	T T	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	320	0.0031	13	c.69- others(26): Show c.69-859_69-858insTGTGTGTGTGTGT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTTTTCTT others(6): Show TTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	320	0.0031	13	c.217 others(30): Show c.217+3319_217+3320insTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879461	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	320	0.0031	13	c.217 others(30): Show c.217+3399_217+3400insCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11			chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881549	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	320	0.0031	13	c.217 others(30): Show c.217+5487_217+5488insTATATATATATAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11			chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	320	0.0031	13	c.217 others(30): Show c.217+5500_217+5501insAAAAAAAAATATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19056.hp1 HG02698.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0297 a0001c0004t0001g0184 a0001c0001t0001g0297 a0001c0004t0001g0184	2	320	0.0063	13	c.217 others(30): Show c.217+5500_217+5501insAAATATATATATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128908345	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	320	0.0031	13	c.376 others(30): Show c.376-4078_376-4077insTTTCTTTCTTTCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128926237	A A	ATAATAAT others(6): Show ATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	320	0.0031	13	c.470 others(28): Show c.470-122_470-121insTAATAATAATAAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	6/11			chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956158	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02055.hp2 others(12): Show HG01243.hp1 HG01934.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0001c0002 a0003c0005 others(2): Show a0001c0001 a0001c0002 a0003c0005 a0005c0009 a0009c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0003c0005t0001 a0003c0005t0004 a0005c0009t0008 a0009c0013t0004	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0062 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0001g0147 a0001c0001t0004g0030 a0001c0001t0006g0013 a0001c0001t0006g0100 a0001c0001t0006g0199 a0001c0002t0001g0137 a0001c0002t0002g0265 a0003c0005t0001g0088 a0003c0005t0004g0043 a0003c0005t0004g0145 a0005c0009t0008g0023 a0009c0013t0004g0312	15	320	0.0469	13	c.781 others(30): Show c.781-1385_781-1373dupAAAAAAAAAAAAA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128965892	C C	CAAAAATA others(6): Show CAAAAATAAAGAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	320	0.0031	13	c.879 others(30): Show c.879+8252_879+8264dupAAATAAAGAAAAA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135619568	A A	AAGTGAGC others(6): Show AAGTGAGCCCAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0007 a0003c0002t0004g0007	1	436	0.0023	13	c.45 others(24): Show c.4516_*4528dupAGCTGGGCTCACT	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		4079		chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135621369	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0169 a0001c0008t0003g0169	1	436	0.0023	13	c.27 others(24): Show c.2727_*2728insTTTTTTTTTTTTT	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		2278		chr9	TogoVar
GLT8D2_chr12_103983987_104055187	104007266	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	416	0.0024	13	c.113 others(30): Show c.113-3961_113-3960insAGAGAGAGAGAGA	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	4/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016826	A A	AAGAAGAA others(6): Show AAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	416	0.0024	13	c.20- others(28): Show c.20-1722_20-1721insCTTTCTTTCTTCT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104032466	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	416	0.0024	13	c.-16 others(34): Show c.-163-10988_-163-10976dupTTTTTTTTTTTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLTPD2_chr17_4783964_4795589	4794937	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	13	c.46 others(24): Show c.4641_*4642insAAAAAAAAAAAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		4349		chr17	TogoVar
GLTP_chr12_109845945_109885541	109857143	T T	TGTGCAGT others(6): Show TGTGCAGTACGCAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0053 a0001c0001t0024g0053	1	322	0.0031	13	c.296 others(28): Show c.296+370_296+382dupTTGCGTACTGCAC	GLTP	ENSG00000139433.11	transcript	ENST00000318348.9	protein_coding	3/4			chr12	TogoVar
GLYATL1_chr11_58934488_58961406	58956280	C C	CTTCTTTG others(6): Show CTTCTTTGTGTTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0137 a0001c0001t0009g0137	1	424	0.0024	13	c.25 others(22): Show c.253_*254insTTCTTTGTGTTGT	GLYATL1	ENSG00000166840.14	transcript	ENST00000532726.6	protein_coding	7/7	254		chr11	TogoVar
GLYATL3_chr6_49494923_49533078	49525560	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0096 a0006c0008t0006g0096	1	380	0.0026	13	c.441 others(28): Show c.441-905_441-893dupAAAAAAAAAAAAA	GLYATL3	ENSG00000203972.10	transcript	ENST00000371197.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLYAT_chr11_58703757_58736943	58728510	A A	AGCCAAGA others(6): Show AGCCAAGATAGGAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	364	0.0028	13	c.-16 others(30): Show c.-16+3312_-16+3324dupATCCTATCTTGGC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GM2A_chr5_151248185_151275440	151273539	C C	CTTTTTTC others(6): Show CTTTTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0006 a0002c0003t0005g0006	1	412	0.0024	13	c.60 others(24): Show c.6088_*6089insTTTTTTCTTTCTT	GM2A	ENSG00000196743.9	transcript	ENST00000357164.4	protein_coding		3100		chr5	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00735.hp1 others(29): Show HG00408.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02300.hp1 HG02486.hp1 HG02717.hp2 HG03540.hp1 NA18941.hp1 NA18964.hp1 NA18980.hp2 NA18981.hp1 NA18990.hp2 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0004 a0001c0002t0006 a0003c0006t0004 a0001c0002t0004 a0001c0002t0006 a0003c0006t0004	a0001c0002t0004g0001 a0001c0002t0004g0008 a0001c0002t0004g0312 others(20): Show a0001c0002t0004g0001 a0001c0002t0004g0008 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0324 a0001c0002t0004g0327 a0001c0002t0004g0336 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0002t0006g0001 a0001c0002t0006g0007 a0001c0002t0006g0323 a0001c0002t0006g0325 a0001c0002t0006g0328 a0001c0002t0006g0334 a0003c0006t0004g0306	32	390	0.0821	13	c.107 others(32): Show c.1073-1532_1073-1520dupAAAAAAAAAAAAA	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(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02922.hp1 NA18522.hp1 others(2): Show HG02135.hp1 HG02922.hp1 NA18522.hp1 NA18955.hp2 NA19054.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0014 a0004c0004t0005 a0002c0002t0002 a0002c0002t0014 a0004c0004t0005	a0002c0002t0002g0000 a0002c0002t0014g0000 a0004c0004t0005g0000 a0002c0002t0002g0000 a0002c0002t0014g0000 a0004c0004t0005g0000	5	452	0.0111	13	c.-17 others(22): Show c.-177_-176insAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652626	T T	TTATATAT others(6): Show TTATATATAATATA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	166	0.0060	13	c.988 others(32): Show c.988-28099_988-28087dupTATATTATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1876015	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	166	0.0060	13	c.771 others(32): Show c.771+54087_771+54088insTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1999996	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	166	0.0060	13	c.346 others(32): Show c.346-39031_346-39030insTATATATATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	166	0.0060	13	c.345 others(32): Show c.345+63642_345+63654dupTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01934.hp2 HG02109.hp1 others(4): Show HG00140.hp2 HG01934.hp2 HG02109.hp1 HG02486.hp2 NA18994.hp1 NA19009.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0002t0001g0037 a0001c0002t0001g0152	7	166	0.0422	13	c.345 others(32): Show c.345+56051_345+56063dupTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar

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