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
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00738.hp1 others(16): Show HG00099.hp1 HG00558.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01928.hp2 HG01975.hp1 HG02109.hp2 HG02148.hp1 HG02559.hp1 HG03927.hp1 NA18960.hp1 NA18968.hp2 NA18978.hp2 NA18985.hp1 NA18989.hp2 NA19060.hp2 NA19062.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0002 a0001c0002t0028 a0001c0002t0030 others(2): Show a0001c0002t0002 a0001c0002t0028 a0001c0002t0030 a0001c0002t0036 a0001c0010t0002	a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0017 others(16): Show a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0029 a0001c0002t0002g0039 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0028g0014 a0001c0002t0030g0057 a0001c0002t0036g0083 a0001c0010t0002g0008 a0001c0010t0002g0009	19	288	0.0660	19	c.376 others(38): Show c.376+12725_376+12743dupTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78318369	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0117 a0001c0002t0055g0117	1	288	0.0035	19	c.76- others(36): Show c.76-37469_76-37468insTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78322298	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0081 a0001c0002t0035g0081	1	288	0.0035	19	c.76- others(36): Show c.76-41416_76-41398dupTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78383581	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01516.hp1 others(19): Show HG00642.hp2 HG01070.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG02109.hp2 HG02132.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp1 NA18981.hp2 NA18984.hp1 NA19085.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0003c0007	a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 others(8): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0028 a0001c0002t0031 a0001c0003t0043 a0001c0005t0013 a0001c0005t0040 a0001c0008t0002 a0001c0010t0002 a0003c0007t0029	a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0025 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0046 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0005g0085 a0001c0002t0011g0006 a0001c0002t0028g0014 a0001c0002t0031g0003 a0001c0003t0043g0111 a0001c0005t0013g0131 a0001c0005t0040g0129 a0001c0008t0002g0016 a0001c0010t0002g0008 a0003c0007t0029g0033	22	288	0.0764	19	c.75+ others(36): Show c.75+34046_75+34064dupTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98492349	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02976.hp1 HG03486.hp2 others(1): Show HG00597.hp2 HG02976.hp1 HG03486.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0024 a0002c0012 others(1): Show a0001c0002 a0001c0024 a0002c0012 a0002c0019	a0001c0002t0008 a0001c0024t0001 a0002c0012t0006 others(1): Show a0001c0002t0008 a0001c0024t0001 a0002c0012t0006 a0002c0019t0006	a0001c0002t0008g0103 a0001c0024t0001g0116 a0002c0012t0006g0073 others(1): Show a0001c0002t0008g0103 a0001c0024t0001g0116 a0002c0012t0006g0073 a0002c0019t0006g0067	4	164	0.0244	19	c.732 others(36): Show c.732+4045_732+4063dupTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	4/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98555997	T T	TGGGAGAC others(12): Show TGGGAGACATGGAGGGGAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG01106.hp1 others(7): Show HG00621.hp2 HG00738.hp1 HG01106.hp1 HG01952.hp2 HG02135.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp2 NA18982.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0002c0010	a0001c0001t0012 a0001c0001t0022 a0001c0002t0001 others(7): Show a0001c0001t0012 a0001c0001t0022 a0001c0002t0001 a0001c0002t0009 a0001c0002t0021 a0001c0002t0040 a0001c0003t0008 a0002c0006t0004 a0002c0006t0007 a0002c0010t0007	a0001c0001t0012g0117 a0001c0001t0022g0108 a0001c0002t0001g0137 others(7): Show a0001c0001t0012g0117 a0001c0001t0022g0108 a0001c0002t0001g0137 a0001c0002t0009g0095 a0001c0002t0021g0114 a0001c0002t0040g0147 a0001c0003t0008g0089 a0002c0006t0004g0148 a0002c0006t0007g0033 a0002c0010t0007g0032	10	164	0.0610	19	c.460 others(38): Show c.460-13973_460-13955dupTTTCCCCTCCATGTCTCCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	2/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98713794	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA18994.hp1 HG00741.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0022 a0002c0010t0004 a0001c0003t0022 a0002c0010t0004	a0001c0003t0022g0083 a0002c0010t0004g0105 a0001c0003t0022g0083 a0002c0010t0004g0105	2	164	0.0122	19	c.-50 others(30): Show c.-5058_-5057insTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding		4860		chr9	TogoVar
GABPB1_chr15_50270389_50360198	50282560	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02257.hp2 others(5): Show HG01256.hp2 HG01258.hp2 HG02257.hp2 HG03209.hp1 HG03579.hp2 HG03710.hp1 NA19010.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0262 a0001c0001t0004g0269 a0001c0001t0004g0270 others(5): Show a0001c0001t0004g0262 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0280 a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0004g0292 a0001c0001t0010g0304	8	366	0.0219	19	c.999 others(36): Show c.999+3507_999+3508insTTTTTTTTTTTTTTTTTTT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	8/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50337129	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19077.hp1 NA18747.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0206 a0001c0001t0001g0171 a0001c0001t0001g0206	2	366	0.0055	19	c.-1+ others(36): Show c.-1+17855_-1+17856insATATATATATATATATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB2_chr1_151065761_151130542	151104775	C C	CTCTTCTT others(12): Show CTCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0159 a0001c0001t0083g0159	1	264	0.0038	19	c.736 others(36): Show c.736+1104_736+1105insCTTTCTTTCTTTCTTTCTT	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABPB2_chr1_151065761_151130542	151104802	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG00735.hp1 others(23): Show HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG02004.hp2 HG02109.hp2 HG02451.hp2 HG02896.hp2 HG02976.hp1 HG03209.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18944.hp1 NA19004.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0057 a0001c0001t0061 a0001c0001t0084 a0002c0002t0010 a0002c0002t0056 a0003c0003t0007 a0004c0004t0009 a0004c0004t0089	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0175 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0009g0096 a0001c0001t0012g0109 a0001c0001t0019g0217 a0001c0001t0023g0134 a0001c0001t0025g0180 a0001c0001t0057g0144 a0001c0001t0061g0106 a0001c0001t0084g0004 a0002c0002t0010g0080 a0002c0002t0056g0077 a0003c0003t0007g0251 a0004c0004t0009g0099 a0004c0004t0089g0225	26	264	0.0985	19	c.736 others(36): Show c.736+1129_736+1130insCTTTCTTTCTTTCTTTCTT	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA3_chrX_152161234_152456315	152182674	C C	CTATATAT others(12): Show CTATATATACATATATAGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	204	0.0049	19	c.114 others(38): Show c.1143+7055_1143+7056insCACTATATATGTATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47028815	G G	GTATATAT others(12): Show GTATATATGGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02056.hp2 HG04115.hp1 others(8): Show HG01261.hp2 HG02056.hp2 HG04115.hp1 NA18947.hp1 NA18953.hp2 NA18955.hp1 NA18974.hp1 NA18984.hp2 NA18986.hp2 NA19005.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0005	a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0004g0082 a0001c0004t0005g0081	11	158	0.0696	19	c.-28 others(30): Show c.-2837_-2836insTATATATGGTATATATACA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding		2751		chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19085.hp1 HG01975.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0111 a0001c0001t0003g0056 a0001c0001t0003g0111	2	266	0.0075	19	c.459 others(36): Show c.459-5658_459-5640dupTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161418868	T T	TATAATCC others(12): Show TATAATCCCAGCACTTTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0024 a0001c0001t0034g0024	1	266	0.0038	19	c.459 others(36): Show c.459-7830_459-7812dupCCCAAAGTGCTGGGATTAT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161429357	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0220 a0001c0001t0056g0220	1	266	0.0038	19	c.459 others(38): Show c.459-18301_459-18300insATTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554099	A A	AGTATGTG others(12): Show AGTATGTGTATATATAAAGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(93): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0003t0022 a0001c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(93): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0157 a0001c0001t0003g0167 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0182 a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0045 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0127 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0189 a0001c0001t0008g0056 a0001c0001t0008g0072 a0001c0001t0008g0081 a0001c0001t0008g0095 a0001c0001t0008g0190 a0001c0001t0011g0010 a0001c0001t0011g0023 a0001c0001t0014g0198 a0001c0001t0014g0199 a0001c0001t0016g0192 a0001c0001t0016g0195 a0001c0001t0018g0057 a0001c0001t0018g0147 a0001c0001t0021g0148 a0001c0001t0026g0071 a0001c0001t0029g0062 a0001c0001t0030g0138 a0001c0001t0031g0042 a0001c0001t0033g0201 a0001c0001t0035g0202 a0001c0001t0036g0204 a0001c0003t0022g0014 a0001c0004t0002g0011 a0001c0004t0002g0169	96	204	0.4706	19	c.108 others(38): Show c.1081-5966_1081-5965insACTTTATATATACACATAC	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26635010	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	204	0.0049	19	c.241 others(38): Show c.241-13477_241-13476insATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRG2_chr5_162062773_162160526	162078398	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	328	0.0031	19	c.107 others(38): Show c.107+10292_107+10293insATATATATATATATATATA	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	1/9			chr5	TogoVar
GABRG3_chr15_26966181_27546984	26968296	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0059 a0001c0003t0009g0059	1	92	0.0109	19	c.-32 others(30): Show c.-3240_-3239insTTTTTTTTTTTTTTTTTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding		2884		chr15	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03017.hp1 HG03540.hp1 others(2): Show HG01261.hp2 HG03017.hp1 HG03540.hp1 HG03834.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 a0002c0015t0020	a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0015g0013 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0015g0013 a0001c0001t0034g0088 a0002c0015t0020g0031	5	92	0.0544	19	c.270 others(38): Show c.270+35619_270+35637dupAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145606	T T	TATCTATC others(12): Show TATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG03516.hp2 HG01109.hp1 HG02145.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0017 a0001c0002 a0001c0003 a0001c0017	a0001c0002t0001 a0001c0003t0019 a0001c0017t0001 a0001c0002t0001 a0001c0003t0019 a0001c0017t0001	a0001c0002t0001g0029 a0001c0003t0019g0064 a0001c0017t0001g0039 a0001c0002t0001g0029 a0001c0003t0019g0064 a0001c0017t0001g0039	3	92	0.0326	19	c.270 others(40): Show c.270+118786_270+118804dupATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145610	T T	TATCTATC others(12): Show TATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0089 a0001c0009t0002g0089	1	92	0.0109	19	c.270 others(40): Show c.270+118790_270+118808dupATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145614	T T	TATCTATC others(12): Show TATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	92	0.0109	19	c.270 others(40): Show c.270+118794_270+118812dupATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27336234	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0069 a0001c0006t0003g0069	1	92	0.0109	19	c.574 others(36): Show c.574+7346_574+7347insAGAGAGAGAGAGAGAGAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27518195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03453.hp2 NA18522.hp1 others(1): Show HG01109.hp2 HG03453.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0009 a0001c0005 a0001c0008 a0001c0009	a0001c0005t0002 a0001c0008t0008 a0001c0009t0010 a0001c0005t0002 a0001c0008t0008 a0001c0009t0010	a0001c0005t0002g0055 a0001c0005t0002g0067 a0001c0008t0008g0002 others(1): Show a0001c0005t0002g0055 a0001c0005t0002g0067 a0001c0008t0008g0002 a0001c0009t0010g0051	4	92	0.0435	19	c.713 others(36): Show c.713-1774_713-1756dupAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89280211	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	366	0.0027	19	c.221 others(36): Show c.221-8490_221-8489insATATATATATATATATATA	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03491.hp2 NA18747.hp2 others(10): Show HG02976.hp1 HG03491.hp2 NA18747.hp2 NA18956.hp2 NA18965.hp2 NA18982.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19079.hp1 NA19081.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0036	a0001c0001t0001g0090 a0001c0001t0001g0246 a0001c0001t0001g0254 others(10): Show a0001c0001t0001g0090 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0003g0018 a0001c0001t0003g0085 a0001c0001t0005g0207 a0001c0001t0006g0016 a0001c0001t0006g0066 a0001c0001t0006g0244 a0001c0001t0006g0257 a0001c0001t0015g0033 a0001c0001t0036g0100	13	282	0.0461	19	c.105 others(38): Show c.1051-4665_1051-4647dupAAAAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30839514	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	282	0.0036	19	c.787 others(34): Show c.787-402_787-401insTTTTTTTTTTTTTTTTTTT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	8/14			chr3	TogoVar
GAGE10_chrX_49298646_49324841	49318575	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(102): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02451.hp2 HG02683.hp2 HG02735.hp1 HG02818.hp2 HG03017.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103	105	302	0.3477	19	c.329 others(36): Show c.329-1148_329-1147insTATTTATTTATTTATTATT	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49318575	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(84): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02451.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA20805.hp1 NA20905.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0005c0005 a0006c0006 others(5): Show a0001c0001 a0005c0005 a0006c0006 a0007c0007 a0009c0011 a0010c0012 a0011c0013 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0005c0005t0002 a0006c0006t0002 a0007c0007t0003 a0009c0011t0002 a0010c0012t0002 a0011c0013t0002 a0012c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0002g0002 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0004g0015 a0005c0005t0002g0011 a0005c0005t0002g0046 a0005c0005t0002g0047 a0006c0006t0002g0006 a0007c0007t0003g0043 a0009c0011t0002g0008 a0010c0012t0002g0070 a0011c0013t0002g0065 a0012c0014t0002g0072	87	194	0.4485	19	c.-35 others(30): Show c.-3578_-3577insTTATTTATTTATTTATTTA	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding		3461		chrX	TogoVar
GAK_chr4_844277_937316	902596	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02723.hp1 others(1): Show HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0281 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0281 a0001c0002t0002g0187	4	390	0.0103	19	c.525 others(36): Show c.525+2040_525+2041insTTTTTTTTTTTTTTTTTTT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GAL3ST4_chr7_100154244_100173617	100172465	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	402	0.0025	19	c.-41 others(30): Show c.-4109_-4108insAAAAAAAAAAAAAAAAAAA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		3849		chr7	TogoVar
GALC_chr14_87928014_87998182	87936921	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	370	0.0027	19	c.191 others(38): Show c.1912-2044_1912-2043insTATATATATATATATATAT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALC_chr14_87928014_87998182	87956564	T T	TATATATA others(12): Show TATATATATACACACACACC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0268 a0001c0006t0001g0268	1	370	0.0027	19	c.116 others(38): Show c.1162-5817_1162-5816insGGTGTGTGTGTATATATAT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALC_chr14_87928014_87998182	87956587	T T	TATATATA others(12): Show TATATATATACACACACACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0138 a0001c0006t0001g0138	1	370	0.0027	19	c.116 others(38): Show c.1162-5840_1162-5839insGGTGTGTGTGTATATATAT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALC_chr14_87928014_87998182	87956597	C C	CACACACA others(12): Show CACACACACCATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG02486.hp2 others(12): Show HG00738.hp1 HG01081.hp2 HG02486.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0029 others(1): Show a0001c0001 a0001c0006 a0001c0029 a0003c0005	a0001c0001t0001 a0001c0006t0001 a0001c0006t0011 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0011 a0001c0029t0001 a0003c0005t0007	a0001c0001t0001g0309 a0001c0006t0001g0026 a0001c0006t0001g0224 others(9): Show a0001c0001t0001g0309 a0001c0006t0001g0026 a0001c0006t0001g0224 a0001c0006t0001g0269 a0001c0006t0001g0270 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0006t0011g0273 a0001c0029t0001g0223 a0003c0005t0007g0007 a0003c0005t0007g0225 a0003c0005t0007g0226	15	370	0.0405	19	c.116 others(38): Show c.1162-5850_1162-5849insATATATATATGGTGTGTGT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	348	0.0029	19	c.267 others(36): Show c.267-7163_267-7162insATATATATATATTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	348	0.0029	19	c.267 others(36): Show c.267-7163_267-7162insATATATATATTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228688	T T	TATATATA others(12): Show TATATATATATATTTATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0209 a0001c0002t0038g0209	1	348	0.0029	19	c.267 others(36): Show c.267-7163_267-7162insATATATATATATTTATTTA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9			chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01358.hp2 others(6): Show HG00099.hp1 HG01099.hp2 HG01358.hp2 HG01516.hp2 HG02602.hp1 HG03654.hp1 HG03710.hp2 NA18522.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0024 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025	a0001c0002t0003g0137 a0001c0002t0003g0143 a0001c0002t0003g0144 others(6): Show a0001c0002t0003g0137 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0149 a0001c0002t0003g0162 a0001c0002t0004g0170 a0001c0002t0004g0199 a0001c0002t0024g0136 a0001c0002t0025g0131	9	348	0.0259	19	c.967 others(36): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03831.hp2 HG03239.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0072 a0002c0002t0001g0298 a0001c0001t0001g0072 a0002c0002t0001g0298	2	328	0.0061	19	c.634 others(38): Show c.634+13199_634+13200insATATATATATATATATATT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT10_chr5_154185733_154425984	154293611	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02559.hp2 others(1): Show HG00639.hp1 HG00741.hp1 HG02559.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 a0001c0001t0001 a0001c0001t0003 a0001c0001t0029	a0001c0001t0001g0051 a0001c0001t0003g0071 a0001c0001t0003g0146 others(1): Show a0001c0001t0001g0051 a0001c0001t0003g0071 a0001c0001t0003g0146 a0001c0001t0029g0053	4	236	0.0170	19	c.160 others(36): Show c.160-1204_160-1203insTTTTTTTTTTTTTTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	236	0.0042	19	c.160 others(36): Show c.160-1193_160-1192insTTTTTTTTTTTTTTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT11_chr7_152020674_152127340	152025694	A A	ACTGGGCG others(12): Show ACTGGGCGAGGGCCCTGGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG02071.hp2 NA18989.hp1 others(1): Show HG00544.hp1 HG02071.hp2 NA18989.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0135 others(1): Show a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0135 a0001c0001t0016g0076	4	284	0.0141	19	c.-22 others(28): Show c.-225_-207dupGGCGAGGGCCCTGGGCCTG	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	1/12	68511	INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT12_chr9_98802670_98855081	98821624	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19067.hp2 HG00544.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0154 a0002c0003t0001g0250 a0001c0002t0002g0154 a0002c0003t0001g0250	2	376	0.0053	19	c.372 others(36): Show c.372-1619_372-1618insAAAAAAAAAAAAAAAAAAA	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
GALNT13_chr2_153866922_154458979	154177311	A A	ATATATAG others(12): Show ATATATAGTTGAAACCATAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG03098.hp1 others(2): Show HG02559.hp1 HG02615.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0033 a0002c0002t0038 a0001c0001t0011 a0001c0001t0033 a0002c0002t0038	a0001c0001t0011g0093 a0001c0001t0011g0097 a0001c0001t0011g0099 others(2): Show a0001c0001t0011g0093 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0033g0061 a0002c0002t0038g0113	5	214	0.0234	19	c.311 others(38): Show c.311+36820_311+36821insCATAGTATATAGTTGAAAC	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154225160	T T	TGACAGAT others(12): Show TGACAGATAGATGATAGATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0165 a0001c0001t0018g0165	1	214	0.0047	19	c.312 others(38): Show c.312-16868_312-16867insCAGATAGATGATAGATAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	31038085	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 NA19088.hp1 HG02895.hp2 HG03139.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0173 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0173	3	226	0.0133	19	c.130 others(38): Show c.130-45079_130-45078insTATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16232518	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0169 a0003c0004t0002g0169	1	388	0.0026	19	c.50 others(30): Show c.5018_*5019insTATATATATATATATATAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2354		chr3	TogoVar

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