JoGo: Joint Open Genome and Omics Platform

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
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20752.hp1 HG03098.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0003 a0004c0010t0004 a0001c0001t0003 a0004c0010t0004	a0001c0001t0003g0013 a0004c0010t0004g0088 a0001c0001t0003g0013 a0004c0010t0004g0088	2	176	0.0114	29	c.160 others(48): Show c.160+49738_160+49739insATATATATATATATATATATATATTT TTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG01981.hp2 others(1): Show HG01243.hp2 HG01346.hp1 HG01981.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0006g0137 a0001c0001t0006g0141 others(1): Show a0001c0001t0001g0098 a0001c0001t0006g0137 a0001c0001t0006g0141 a0001c0002t0001g0061	4	142	0.0282	29	c.184 others(50): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162153692	T T	TATATATG others(22): Show TATATATGTATATTATATATGTATATAATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0118 a0001c0001t0015g0118	1	142	0.0070	29	c.-17 others(46): Show c.-17+9894_-17+9922dupTATTATATACATATATAATATACATATA T	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18984.hp2 HG01496.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0039 a0001c0001t0018 a0001c0001t0039	a0001c0001t0018g0157 a0001c0001t0039g0167 a0001c0001t0018g0157 a0001c0001t0039g0167	2	194	0.0103	29	c.136 others(50): Show c.1364+16070_1364+16071insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG02738.hp2 others(1): Show HG00738.hp1 HG01192.hp1 HG02738.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0085 a0001c0001t0004g0094 a0001c0001t0004g0114 others(1): Show a0001c0001t0004g0085 a0001c0001t0004g0094 a0001c0001t0004g0114 a0001c0001t0007g0041	4	194	0.0206	29	c.136 others(50): Show c.1364+16064_1364+16065insCAAAAAAAAAAAAAAAAAAAAAAA AAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAACAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0186 a0001c0001t0010g0186	1	194	0.0052	29	c.136 others(50): Show c.1364+16063_1364+16064insCAAAAAAAAAAAAAAAAAAAAAAA AAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	53950160	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAACAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03540.hp1 HG00140.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0029 a0001c0001t0004 a0001c0003t0029	a0001c0001t0004g0024 a0001c0003t0029g0048 a0001c0001t0004g0024 a0001c0003t0029g0048	2	194	0.0103	29	c.136 others(50): Show c.1364+16064_1364+16065insCAAAAAAAAAAAAAACAAAAAAAA AAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUBP3_chr9_130574577_130643352	130589705	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	378	0.0027	29	c.85- others(44): Show c.85-5777_85-5776insATATATATATATTTTTTTTTTTTTTTTTT	FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
FUNDC2_chrX_155021844_155065304	155028040	C C	CAGAGCAG others(22): Show CAGAGCAGACTGCTCTTATAGACTTTTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00639.hp2 others(61): Show HG00140.hp1 HG00544.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 NA18945.hp1 NA18948.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0038 a0001c0001t0049 a0001c0001t0056	a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0101 others(48): Show a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0198 a0001c0001t0005g0024 a0001c0001t0005g0100 a0001c0001t0008g0023 a0001c0001t0008g0081 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0009g0022 a0001c0001t0009g0078 a0001c0001t0009g0079 a0001c0001t0009g0084 a0001c0001t0011g0025 a0001c0001t0011g0098 a0001c0001t0020g0104 a0001c0001t0026g0002 a0001c0001t0027g0072 a0001c0001t0031g0021 a0001c0001t0038g0095 a0001c0001t0049g0096 a0001c0001t0056g0077	64	267	0.2397	29	c.133 others(46): Show c.133+1019_133+1047dupACTTTTATAAGAGCAGACTGCTCTTATA G	FUNDC2	ENSG00000165775.18	transcript	ENST00000369498.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02572.hp2 others(7): Show HG01192.hp2 HG01243.hp2 HG02572.hp2 HG03834.hp2 NA18906.hp1 NA18949.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0002c0004t0001	a0001c0001t0003g0237 a0001c0001t0005g0230 a0001c0001t0005g0256 others(7): Show a0001c0001t0003g0237 a0001c0001t0005g0230 a0001c0001t0005g0256 a0001c0001t0010g0089 a0001c0001t0010g0091 a0002c0004t0001g0250 a0002c0004t0001g0252 a0002c0004t0001g0253 a0002c0004t0001g0254 a0002c0004t0001g0271	10	374	0.0267	29	c.-22 others(50): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65576696	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	374	0.0027	29	c.203 others(48): Show c.203+14943_203+14971dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXR1_chr3_180907670_180987753	180926506	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	320	0.0031	29	c.52- others(44): Show c.52-6827_52-6826insATATATATATATATATATATATATATTTT	FXR1	ENSG00000114416.19	transcript	ENST00000357559.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	462	0.0022	29	c.292 others(44): Show c.292+420_292+421insCACACACACACACACACACACACACACAC	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8			chr19	TogoVar
FXYD5_chr19_35149735_35174881	35161248	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01934.hp1 others(19): Show HG00280.hp2 HG01255.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02300.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03710.hp2 HG04228.hp2 NA18953.hp2 NA19043.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0183 others(13): Show a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0183 a0001c0001t0002g0218 a0002c0003t0001g0027 a0002c0003t0001g0058 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0080 a0002c0003t0001g0085 a0002c0003t0001g0105 a0002c0003t0001g0164 a0002c0003t0001g0199 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0227	22	462	0.0476	29	c.292 others(44): Show c.292+447_292+448insCACACACACACACACACACACACACACAC	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8			chr19	TogoVar
FYN_chr6_111655332_111878452	111773616	G G	GAGAGGGG others(22): Show GAGAGGGGTGAGGGAGAGAGGGGGAGGGAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	234	0.0043	29	c.-12 others(46): Show c.-12+6949_-12+6950insTTCCCTCCCCCTCTCTCCCTCACCCCTC T	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	3/13			chr6	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01515.hp2 HG01346.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0233 a0001c0001t0006g0123 a0001c0001t0001g0233 a0001c0001t0006g0123	2	256	0.0078	29	c.10 others(42): Show c.10668_*10669insATATATATATATATATATATATATATATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
GAB1_chr4_143331876_143479565	143340024	T T	TTATTTAA others(22): Show TTATTTAACTGTCAGGTTAAATAAGGCTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 HG03209.hp1 HG01243.hp2 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153	3	194	0.0155	29	c.72+ others(44): Show c.72+2770_72+2798dupAACTGTCAGGTTAAATAAGGCTTGTATTT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143413824	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	194	0.0052	29	c.73- others(44): Show c.73-1629_73-1628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0100 a0001c0004t0006g0100	1	288	0.0035	29	c.376 others(48): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78318369	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 HG02572.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0001g0179 a0001c0001t0001g0227	2	288	0.0069	29	c.76- others(46): Show c.76-37469_76-37468insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78383581	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0116 a0001c0001t0046g0116	1	288	0.0035	29	c.75+ others(46): Show c.75+34064_75+34065insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78407671	A A	AAGAAAGA others(22): Show AAGAAAGAAAGAAAGAAAGAAAGAGATGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp1 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0127 a0001c0005t0013g0130 a0001c0005t0013g0127 a0001c0005t0013g0130	2	288	0.0069	29	c.75+ others(44): Show c.75+9974_75+9975insGCCATCTCTTTCTTTCTTTCTTTCTTTCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp2 NA18964.hp1 others(3): Show HG01192.hp2 HG02257.hp2 NA18964.hp1 NA18982.hp1 NA19002.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 a0001c0002 a0001c0003 a0001c0013	a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 others(2): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0013t0017	a0001c0002t0001g0157 a0001c0002t0008g0096 a0001c0002t0008g0103 others(3): Show a0001c0002t0001g0157 a0001c0002t0008g0096 a0001c0002t0008g0103 a0001c0002t0012g0152 a0001c0003t0001g0078 a0001c0013t0017g0053	6	164	0.0366	29	c.123 others(48): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABRA3_chrX_152161234_152456315	152275187	T T	TTATATAT others(22): Show TTATATATATAATTTATATATATAATATTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp1 HG01433.hp1 others(2): Show HG01099.hp1 HG01261.hp1 HG01433.hp1 HG01943.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0188	5	204	0.0245	29	c.330 others(46): Show c.330+9452_330+9480dupTAATATTATATATATAAATTATATATAT A	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG01261.hp1 others(1): Show HG00280.hp1 HG01099.hp2 HG01261.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0001c0001t0001 a0001c0001t0002 a0001c0003t0005	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0002g0032 a0001c0003t0005g0033	4	158	0.0253	29	c.241 others(48): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA19000.hp1 HG01257.hp2 HG01258.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0041 a0001c0001t0001 a0001c0001t0026 a0001c0001t0041	a0001c0001t0001g0256 a0001c0001t0026g0235 a0001c0001t0041g0193 a0001c0001t0001g0256 a0001c0001t0026g0235 a0001c0001t0041g0193	3	266	0.0113	29	c.459 others(46): Show c.459-5668_459-5640dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	ATAAAGTA others(22): Show ATAAAGTATATATATATATAAAGTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02976.hp2 others(3): Show HG01884.hp1 HG02055.hp1 HG02976.hp2 HG03453.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0051 a0001c0001t0003g0098 others(3): Show a0001c0001t0003g0002 a0001c0001t0003g0051 a0001c0001t0003g0098 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0150	6	204	0.0294	29	c.108 others(48): Show c.1081-6057_1081-6056insATATATACTTTATATATATATATACT TTA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27265882	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0022 a0001c0002t0009g0022	1	92	0.0109	29	c.271 others(48): Show c.271-60912_271-60911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306567	T T	TATGTTTA others(22): Show TATGTTTATATATAAACATATAATATAAAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04115.hp2 HG03492.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0010 a0001c0001t0015g0013 a0001c0001t0007g0010 a0001c0001t0015g0013	2	92	0.0217	29	c.271 others(48): Show c.271-20240_271-20239insGTTTATATATAAACATATAATATAAA CAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307825	C C	CAAACATA others(22): Show CAAACATATATAAAATAAACATGTTTATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp1 others(10): Show HG01070.hp1 HG01071.hp2 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0026 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0026 a0001c0003t0019 a0001c0003t0032 a0001c0005t0005 a0001c0008t0008 a0001c0009t0002 a0001c0011t0018	a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0076 others(10): Show a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0004g0007 a0001c0002t0026g0070 a0001c0003t0019g0064 a0001c0003t0032g0040 a0001c0005t0005g0037 a0001c0005t0005g0045 a0001c0008t0008g0001 a0001c0009t0002g0089 a0001c0011t0018g0004	13	92	0.1413	29	c.271 others(48): Show c.271-18983_271-18982insAACATATATAAAATAAACATGTTTAT ATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308311	T T	TATATAAA others(22): Show TATATAAACATACGTTTATATATAAACATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	92	0.0109	29	c.271 others(48): Show c.271-18468_271-18440dupATATAAACATACGTTTATATATAAAC ATA	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(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	92	0.0109	29	c.574 others(46): Show c.574+7346_574+7347insAGAGAGAGAGAGAGAGAGAGAGAGAGAA A	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9			chr15	TogoVar
GAD1_chr2_170811887_170866151	170840658	A A	AAGGGAGG others(22): Show AAGGGAGGTAGGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0270	1	412	0.0024	29	c.639 others(46): Show c.639-3380_639-3379insTAGGGAAGGGAGGGAGGGAGGGAGGGAG G	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 NA20300.hp1 HG02109.hp1 HG03098.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0005 a0004c0003t0005 a0001c0001t0005 a0004c0003t0005	a0001c0001t0005g0183 a0001c0001t0005g0190 a0004c0003t0005g0008 a0001c0001t0005g0183 a0001c0001t0005g0190 a0004c0003t0005g0008	3	282	0.0106	29	c.105 others(48): Show c.1051-4647_1051-4646insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GAK_chr4_844277_937316	905456	G G	GCTCCGCC others(22): Show GCTCCGCCACGCCCCATGCCACGCTACGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02886.hp1 others(2): Show HG02622.hp2 HG02818.hp2 HG02886.hp1 HG03195.hp2 HG03453.hp1	a0004 a0007 a0004 a0007	a0004c0009 a0007c0015 a0004c0009 a0007c0015	a0004c0009t0001 a0007c0015t0001 a0004c0009t0001 a0007c0015t0001	a0004c0009t0001g0261 a0004c0009t0001g0262 a0007c0015t0001g0023 others(2): Show a0004c0009t0001g0261 a0004c0009t0001g0262 a0007c0015t0001g0023 a0007c0015t0001g0263 a0007c0015t0001g0264	5	390	0.0128	29	c.383 others(44): Show c.383-678_383-677insTCCGTAGCGTGGCATGGGGCGTGGCGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	4/27			chr4	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(22): Show ATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0074 a0001c0001t0046g0074	1	348	0.0029	29	c.267 others(46): Show c.267-7163_267-7162insATATATATATATATATATATACATATAT T	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703744	G G	GGCTCATC others(22): Show GGCTCATCAATCCAAGCAGGCTGGGGTGGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	328	0.0031	29	c.634 others(48): Show c.634+13855_634+13856insTCAATCCAAGCAGGCTGGGGTGGTGC TCA	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0179 a0001c0001t0012g0180 a0001c0001t0012g0179 a0001c0001t0012g0180	2	214	0.0094	29	c.142 others(48): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30991372	C C	CTGCTCGG others(22): Show CTGCTCGGGGAAATACAATAACCTAATATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 NA19030.hp1 HG02486.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0004g0008 a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0004g0008	3	226	0.0133	29	c.299 others(46): Show c.299+1437_299+1465dupAATATTAGGTTATTGTATTTCCCCGAGC A	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG03209.hp1 HG00597.hp1 HG00621.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0001t0001g0088 a0001c0001t0001g0224 a0001c0001t0001g0245	3	388	0.0077	29	c.55 others(40): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69343976	C C	CTCATTCC others(22): Show CTCATTCCTGTCTGGATTACTCACCCCCAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	306	0.0033	29	c.127 others(48): Show c.1271+2214_1271+2242dupCATTCCTGTCTGGATTACTCACCCCC AGT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	76	0.0132	29	c.239 others(48): Show c.239-70431_239-70430insATATATATATATATATATATATTTTT TTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71265119	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0014 a0001c0001t0012g0014	1	76	0.0132	29	c.239 others(48): Show c.239-70431_239-70430insATATATATATATATATATATATATAT ATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10			chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319125	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03490.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0042 a0001c0001t0004g0029 a0001c0001t0001g0042 a0001c0001t0004g0029	2	76	0.0263	29	c.239 others(48): Show c.239-16425_239-16424insCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10			chr7	TogoVar
GALNT7_chr4_173163811_173328967	173216728	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19010.hp2 HG01952.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0190 a0001c0002t0001g0191	2	266	0.0075	29	c.127 others(48): Show c.127-31252_127-31251insATATATATATATATATATATATATAT ATA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11			chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172481356	T T	TGAGCACA others(22): Show TGAGCACAAGCAAGACGTATTGCAAAGAGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp1 HG02015.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0029 a0001c0001t0001g0040	2	40	0.0500	29	c.553 others(50): Show c.553+132673_553+132674insAAGCAAGACGTATTGCAAAGAGCG AGCAC	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172606553	A A	ATATATAT others(22): Show ATATATATATATACATATACATAGTATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG02258.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0025 a0001c0001t0011g0031 a0001c0001t0002g0025 a0001c0001t0011g0031	2	40	0.0500	29	c.554 others(50): Show c.554-202797_554-202769dupTACATATACATAGTATATGTATAT ATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0252 a0001c0001t0011g0252	1	366	0.0027	29	c.12 others(42): Show c.12160_*12161insTATATATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALT_chr9_34641675_34656035	34651043	G G	GGGGGCGG others(22): Show GGGGGCGGGGGGAGGAATGGGGGGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	416	0.0024	29	c.59 others(38): Show c.594_*595insGGGGCGGGGGGAGGAATGGGGGGGCGGGA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		9		chr9	TogoVar
GAN_chr16_81309962_81395809	81353292	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG03139.hp2 HG02809.hp2 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0001t0169 a0001c0002t0142 a0001c0001t0053 a0001c0001t0169 a0001c0002t0142	a0001c0001t0053g0304 a0001c0001t0169g0159 a0001c0002t0142g0022 a0001c0001t0053g0304 a0001c0001t0169g0159 a0001c0002t0142g0022	3	384	0.0078	29	c.283 others(46): Show c.283-1099_283-1098insAAAAAAAAACAAAACAAAAAAAAAAAAA A	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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