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
GARIN2_chr14_67184440_67228940	67193951	A A	AAAACAAA others(8): Show AAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	332	0.0030	15	c.-11 others(34): Show c.-113-3318_-113-3317insACAAAAAAAAAACAA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN2_chr14_67184440_67228940	67193954	C C	CAAAAAAA others(8): Show CAAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03041.hp1 NA18906.hp2 others(2): Show HG02027.hp2 HG03041.hp1 NA18906.hp2 NA19000.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0141 others(2): Show a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0145	5	332	0.0151	15	c.-11 others(34): Show c.-113-3307_-113-3306insACAAAAAAAAAAAAA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN2_chr14_67184440_67228940	67193954	C C	CAAAAAAA others(8): Show CAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02622.hp1 HG03225.hp1 others(3): Show HG00423.hp2 HG02622.hp1 HG03225.hp1 HG03453.hp1 NA18956.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0133 a0001c0002t0001g0146 others(1): Show a0001c0002t0001g0008 a0001c0002t0001g0133 a0001c0002t0001g0146 a0001c0002t0001g0174	6	332	0.0181	15	c.-11 others(34): Show c.-113-3306_-113-3305insAAAAAAAAAAAAAAC	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN2_chr14_67184440_67228940	67225958	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	332	0.0030	15	c.21 others(26): Show c.2141_*2142insGTGTGTGTGTGTGTG	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding		2019		chr14	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp2 HG02886.hp2 others(2): Show HG00438.hp1 HG01433.hp2 HG02886.hp2 HG03669.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0179 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0179 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0287	5	300	0.0167	15	c.595 others(30): Show c.595-553_595-539dupTTTTTTTTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34262287	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02630.hp2 NA18747.hp1 others(2): Show HG01361.hp1 HG02630.hp2 NA18747.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0159 a0001c0002t0002g0008 a0001c0002t0002g0058 others(2): Show a0001c0001t0001g0159 a0001c0002t0002g0008 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060	5	326	0.0153	15	c.-79 others(34): Show c.-796+7687_-796+7701dupTTTTTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34293746	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 NA18522.hp1 HG02055.hp1 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0021g0188 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0021g0188	3	326	0.0092	15	c.-79 others(34): Show c.-795-5933_-795-5932insCACACACACACACAC	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13			chr19	TogoVar
GARRE1_chr19_34249554_34360566	34295515	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02809.hp2 others(14): Show HG02451.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0002t0003 a0001c0003t0006 a0001c0003t0008 others(4): Show a0001c0002t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0015 a0001c0004t0001 a0001c0004t0016 a0001c0013t0001	a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0003t0006g0149 others(14): Show a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0003t0006g0149 a0001c0003t0006g0150 a0001c0003t0006g0151 a0001c0003t0008g0079 a0001c0003t0008g0160 a0001c0003t0015g0174 a0001c0004t0001g0081 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0139 a0001c0004t0001g0140 a0001c0004t0001g0142 a0001c0004t0001g0144 a0001c0004t0016g0143 a0001c0013t0001g0141	17	326	0.0522	15	c.-79 others(34): Show c.-795-4147_-795-4133dupGTTTTGTTTTGTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34340438	T T	TTTTTCTT others(8): Show TTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01257.hp2 others(23): Show HG00609.hp1 HG00639.hp2 HG01257.hp2 HG01346.hp2 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG03041.hp2 HG03225.hp2 HG03579.hp2 HG04204.hp1 NA18940.hp1 NA18944.hp2 NA18985.hp2 NA19030.hp1 NA19058.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0009 a0003c0007t0012	a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0250 others(23): Show a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0017g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0030 a0001c0002t0002g0054 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0003g0152 a0001c0002t0011g0005 a0001c0002t0011g0007 a0001c0003t0009g0230 a0003c0007t0012g0320	26	326	0.0798	15	c.148 others(32): Show c.1487+468_1487+482dupTTTCTTTTCTTTTCT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GART_chr21_33498933_33547117	33542146	A A	ACCGCCCC others(8): Show ACCGCCCCTCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01952.hp1 HG00741.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0303 a0001c0001t0001g0304	2	384	0.0052	15	c.-13 others(24): Show c.-138_-124dupGGCAGTGAGGGGCGG	GART	ENSG00000159131.17	transcript	ENST00000381815.9	protein_coding		30		chr21	TogoVar
GAS6_chr13_113815549_113869076	113836270	A A	AGGAGGGG others(8): Show AGGAGGGGGAGAAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp2 NA21309.hp2 HG01891.hp1 HG03098.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0001t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010	3	143	0.0210	15	c.590 others(30): Show c.590-650_590-636dupCCCTTCTCCCCCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113836483	G G	GGAGGACG others(8): Show GGAGGACGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	143	0.0070	15	c.590 others(30): Show c.590-849_590-848insTCCCCCTCCGTCCTC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113836657	G G	GAGGAGGA others(8): Show GAGGAGGAGGGGGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03017.hp2 HG03492.hp1 others(1): Show HG00639.hp2 HG03017.hp2 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104	4	143	0.0280	15	c.590 others(32): Show c.590-1037_590-1023dupTTTCCCCCTCCTCCT	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS7_chr17_9905606_10203606	9982824	G G	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp1 HG02896.hp1 others(1): Show HG01255.hp2 HG02559.hp1 HG02896.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 others(1): Show a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0003t0004	a0001c0001t0006g0134 a0001c0001t0027g0046 a0001c0002t0001g0144 others(1): Show a0001c0001t0006g0134 a0001c0001t0027g0046 a0001c0002t0001g0144 a0001c0003t0004g0045	4	218	0.0184	15	c.305 others(30): Show c.305-941_305-940insTTTCTTTCTTTCTTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10046792	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0025 a0001c0003t0032g0025	1	218	0.0046	15	c.184 others(34): Show c.184-26896_184-26895insTCTCTCTCTCTCTCT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10088220	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01257.hp2 HG01258.hp1 others(1): Show HG01106.hp2 HG01257.hp2 HG01258.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0058 a0001c0001t0002 a0001c0001t0005 a0001c0001t0058	a0001c0001t0002g0051 a0001c0001t0005g0140 a0001c0001t0005g0141 others(1): Show a0001c0001t0002g0051 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0058g0106	4	218	0.0184	15	c.184 others(34): Show c.184-68338_184-68324dupATTATTATTATTATT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10133122	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0025 a0001c0003t0032g0025	1	218	0.0046	15	c.183 others(34): Show c.183+65085_183+65086insAAATATATATATATA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10133123	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02602.hp1 HG03130.hp2 HG01261.hp1 HG02602.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0175 a0001c0001t0006g0032 a0001c0002t0001g0205 a0001c0001t0002g0175 a0001c0001t0006g0032 a0001c0002t0001g0205	3	218	0.0138	15	c.183 others(34): Show c.183+65084_183+65085insTATATATATATATAT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10146960	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01981.hp1 HG01243.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0021 a0001c0003t0024 a0001c0001t0021 a0001c0003t0024	a0001c0001t0021g0181 a0001c0003t0024g0075 a0001c0001t0021g0181 a0001c0003t0024g0075	2	218	0.0092	15	c.183 others(34): Show c.183+51247_183+51248insTTTTTTTTTTTTTTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(8): Show ACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02129.hp2 HG02155.hp2 others(8): Show HG01934.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02630.hp2 HG02895.hp1 HG03491.hp2 NA18955.hp2 NA18999.hp1 NA19057.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0048 a0001c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0124 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0184 a0001c0001t0002g0052 a0001c0001t0002g0065 a0001c0001t0004g0043 a0001c0001t0006g0110 a0001c0001t0048g0059 a0001c0002t0001g0038	11	218	0.0505	15	c.183 others(34): Show c.183+39144_183+39145insATATATATATATATG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10159071	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0087 a0001c0001t0046g0087	1	218	0.0046	15	c.183 others(34): Show c.183+39122_183+39136dupTATATATATATATAT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GASK1A_chr3_42974311_43062715	42987998	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02809.hp1 others(2): Show HG02486.hp1 HG02486.hp2 HG02809.hp1 HG03540.hp1 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0002c0006 a0004c0010 others(1): Show a0001c0001 a0002c0006 a0004c0010 a0015c0026	a0001c0001t0004 a0002c0006t0002 a0004c0010t0004 others(1): Show a0001c0001t0004 a0002c0006t0002 a0004c0010t0004 a0015c0026t0011	a0001c0001t0004g0290 a0002c0006t0002g0200 a0002c0006t0002g0277 others(2): Show a0001c0001t0004g0290 a0002c0006t0002g0200 a0002c0006t0002g0277 a0004c0010t0004g0304 a0015c0026t0011g0311	5	342	0.0146	15	c.3+8 others(28): Show c.3+8364_3+8365insAAAAAAAAAAAAAAA	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GASK1B_chr4_158119474_158178025	158149923	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	292	0.0034	15	c.112 others(34): Show c.1125+5673_1125+5687dupAAAAAAAAAAAAAAA	GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4			chr4	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02015.hp1 HG02040.hp1 others(18): Show HG01891.hp1 HG02015.hp1 HG02040.hp1 HG02109.hp1 HG02132.hp1 HG02622.hp2 HG02698.hp1 HG03239.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 NA18522.hp2 NA18612.hp2 NA18948.hp1 NA18952.hp2 NA19005.hp1 NA19067.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0003 a0001c0008 others(2): Show a0001c0002 a0001c0003 a0001c0008 a0002c0005 a0007c0029	a0001c0002t0006 a0001c0002t0012 a0001c0003t0001 others(7): Show a0001c0002t0006 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0023 a0001c0008t0007 a0002c0005t0001 a0002c0005t0002 a0002c0005t0011 a0007c0029t0001	a0001c0002t0006g0130 a0001c0002t0012g0043 a0001c0003t0001g0083 others(15): Show a0001c0002t0006g0130 a0001c0002t0012g0043 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0158 a0001c0003t0001g0268 a0001c0003t0002g0208 a0001c0003t0023g0084 a0001c0008t0007g0212 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0001g0246 a0002c0005t0001g0252 a0002c0005t0001g0261 a0002c0005t0002g0010 a0002c0005t0002g0251 a0002c0005t0011g0250 a0007c0029t0001g0224	21	382	0.0550	15	c.699 others(32): Show c.699+1956_699+1970dupAAAAAAAAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476877	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0111	1	382	0.0026	15	c.-97 others(24): Show c.-970_-969insGAAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		883		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476893	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0096 a0001c0004t0013g0096	1	382	0.0026	15	c.-98 others(24): Show c.-986_-985insAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		899		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477085	C C	CCTTCCTT others(8): Show CCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0154 a0001c0002t0021g0154	1	382	0.0026	15	c.-11 others(26): Show c.-1178_-1177insAAAGAAGGAAGGAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1091		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02818.hp2 HG03688.hp2 others(3): Show HG00609.hp2 HG02818.hp2 HG03688.hp2 NA18747.hp2 NA18967.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0002c0015	a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 a0002c0005t0002 a0002c0005t0016 a0002c0015t0006	a0001c0001t0001g0015 a0001c0003t0002g0011 a0001c0004t0002g0089 others(3): Show a0001c0001t0001g0015 a0001c0003t0002g0011 a0001c0004t0002g0089 a0002c0005t0002g0010 a0002c0005t0016g0242 a0002c0015t0006g0230	6	382	0.0157	15	c.-12 others(26): Show c.-1231_-1230insGAAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTCTTTCT others(8): Show TTCTTTCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0225 a0002c0005t0001g0225	1	382	0.0026	15	c.-13 others(26): Show c.-1396_-1395insGGAAGGAAAGAAAGA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA6_chr18_22164589_22207528	22177944	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02723.hp2 HG02922.hp1 others(1): Show HG01952.hp1 HG02723.hp2 HG02922.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(1): Show a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0002c0002t0002g0064	4	286	0.0140	15	c.130 others(32): Show c.1302+830_1302+831insTTTTTTTTTTTTTTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD2A_chr19_19400675_19513932	19406451	C C	CGCGGCGG others(8): Show CGCGGCGGCGGCGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	298	0.0034	15	c.-7+ others(28): Show c.-7+446_-7+460dupCGGCGGCGGCGGCGG	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2B_chr1_153799725_153927972	153816059	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03942.hp1 HG02074.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0310 a0001c0001t0001g0255 a0001c0001t0001g0310	2	349	0.0057	15	c.121 others(32): Show c.1216+213_1216+214insGTGTGTGTGTGTGTG	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	7/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153836569	A A	AAAAAAAA others(8): Show AAAAAAAAAATCAGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(127): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0002t0003 a0002c0004t0003 a0002c0004t0017 a0003c0003t0003	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(127): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0003g0002 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0140 a0001c0001t0003g0159 a0001c0001t0003g0323 a0001c0001t0004g0273 a0001c0001t0004g0280 a0001c0001t0004g0338 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0257 a0001c0001t0007g0266 a0001c0001t0007g0297 a0001c0001t0007g0308 a0001c0001t0008g0253 a0001c0001t0008g0264 a0001c0001t0008g0268 a0001c0001t0008g0279 a0001c0001t0008g0319 a0001c0001t0008g0336 a0001c0001t0008g0337 a0001c0001t0017g0085 a0001c0001t0018g0083 a0001c0001t0018g0088 a0001c0001t0018g0094 a0001c0001t0029g0129 a0001c0001t0030g0119 a0001c0001t0031g0027 a0001c0001t0031g0260 a0001c0001t0032g0102 a0001c0001t0032g0103 a0001c0001t0042g0256 a0001c0001t0043g0092 a0001c0001t0047g0022 a0001c0001t0049g0259 a0001c0001t0051g0287 a0001c0001t0052g0128 a0001c0001t0053g0120 a0001c0001t0054g0095 a0001c0002t0003g0013 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0002c0004t0003g0101 a0002c0004t0017g0137 a0003c0003t0003g0111 a0003c0003t0003g0112	130	349	0.3725	15	c.-1- others(30): Show c.-1-8222_-1-8221insGGCTGATTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02258.hp1 NA18980.hp1 HG01106.hp1 HG02258.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0050 a0001c0001t0002 a0001c0001t0004 a0001c0001t0050	a0001c0001t0002g0195 a0001c0001t0004g0057 a0001c0001t0050g0239 a0001c0001t0002g0195 a0001c0001t0004g0057 a0001c0001t0050g0239	3	349	0.0086	15	c.-1- others(32): Show c.-1-10775_-1-10761dupTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG03098.hp1 others(1): Show HG02486.hp2 HG02809.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0264 a0001c0001t0008g0268 a0001c0001t0008g0319 others(1): Show a0001c0001t0008g0264 a0001c0001t0008g0268 a0001c0001t0008g0319 a0001c0001t0008g0336	4	349	0.0115	15	c.-1- others(32): Show c.-1-33448_-1-33447insATATATATTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0337 a0001c0001t0008g0337	1	349	0.0029	15	c.-1- others(32): Show c.-1-33448_-1-33447insATATATATATTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0279 a0001c0001t0008g0279	1	349	0.0029	15	c.-1- others(32): Show c.-1-33448_-1-33447insATATATATATATATT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02818.hp2 NA18522.hp1 others(1): Show HG01496.hp2 HG02818.hp2 NA18522.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0087 a0001c0001t0003g0115 a0001c0001t0003g0146 others(1): Show a0001c0001t0003g0087 a0001c0001t0003g0115 a0001c0001t0003g0146 a0001c0001t0030g0119	4	349	0.0115	15	c.-2+ others(32): Show c.-2+46491_-2+46505dupTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATC_chr12_120441444_120468749	120451875	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	408	0.0025	15	c.254 others(32): Show c.254+5058_254+5059insCTTTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATC_chr12_120441444_120468749	120451875	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02055.hp2 HG02572.hp1 others(4): Show HG00438.hp1 HG02055.hp2 HG02572.hp1 HG02886.hp1 HG03098.hp2 HG03209.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0139 others(2): Show a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0007t0003g0150	7	408	0.0172	15	c.254 others(32): Show c.254+5052_254+5066dupTTTTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATD1_chr11_762222_782487	763220	C C	CCCCCGCC others(8): Show CCCCCGCCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02486.hp1 others(1): Show HG01243.hp2 HG02258.hp1 HG02486.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0009 a0001c0001 a0001c0004 a0003c0009	a0001c0001t0005 a0001c0004t0006 a0003c0009t0005 a0001c0001t0005 a0001c0004t0006 a0003c0009t0005	a0001c0001t0005g0023 a0001c0001t0005g0059 a0001c0004t0006g0016 others(1): Show a0001c0001t0005g0023 a0001c0001t0005g0059 a0001c0004t0006g0016 a0003c0009t0005g0085	4	430	0.0093	15	c.76 others(26): Show c.7662_*7676dupCGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4001		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(8): Show CCCCCGCCCTCACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02056.hp1 others(12): Show HG01070.hp2 HG01071.hp1 HG02056.hp1 HG02074.hp2 HG02683.hp1 HG04184.hp2 HG06807.hp1 NA18940.hp2 NA18947.hp1 NA18999.hp2 NA19011.hp1 NA19056.hp1 NA19065.hp2 NA19082.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0008 a0001c0001 a0001c0003 a0006c0008	a0001c0001t0005 a0001c0001t0006 a0001c0003t0035 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0003t0035 a0006c0008t0065	a0001c0001t0005g0015 a0001c0001t0006g0009 a0001c0001t0006g0031 others(4): Show a0001c0001t0005g0015 a0001c0001t0006g0009 a0001c0001t0006g0031 a0001c0001t0006g0060 a0001c0001t0006g0070 a0001c0003t0035g0099 a0006c0008t0065g0047	15	430	0.0349	15	c.76 others(26): Show c.7660_*7661insACGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763267	T T	CCCCCGCC others(8): Show CCCCCGCCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0048 a0001c0001t0005 a0001c0001t0048	a0001c0001t0005g0035 a0001c0001t0048g0089 a0001c0001t0005g0035 a0001c0001t0048g0089	2	430	0.0047	15	c.76 others(25): Show c.7630delAinsCGGGTGAGGGCGGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3955		chr11	TogoVar
GATD1_chr11_762222_782487	763299	T T	TCCCCGCC others(8): Show TCCCCGCCCTCACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01891.hp2 HG00280.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0011t0005 a0001c0001t0005 a0001c0011t0005	a0001c0001t0005g0048 a0001c0011t0005g0049 a0001c0001t0005g0048 a0001c0011t0005g0049	2	430	0.0047	15	c.75 others(26): Show c.7583_*7597dupCAGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3922		chr11	TogoVar
GBE1_chr3_81484703_81766645	81501686	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02055.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0007 a0001c0001t0010 a0001c0004t0007	a0001c0001t0010g0257 a0001c0004t0007g0298 a0001c0001t0010g0257 a0001c0004t0007g0298	2	304	0.0066	15	c.193 others(34): Show c.1935-2474_1935-2460dupAAAAAAAAAAAAAAA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	14/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81593370	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01516.hp1 HG01891.hp1 others(14): Show HG01433.hp2 HG01516.hp1 HG01891.hp1 HG02055.hp2 HG02080.hp2 HG02257.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03453.hp1 HG03540.hp1 NA18747.hp1 NA19068.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0008	a0001c0001t0005 a0001c0001t0010 a0001c0004t0001 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0004t0001 a0002c0002t0001 a0002c0008t0002	a0001c0001t0005g0264 a0001c0001t0005g0276 a0001c0001t0005g0277 others(14): Show a0001c0001t0005g0264 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0286 a0001c0001t0005g0293 a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0002c0002t0001g0109 a0002c0008t0002g0126	17	304	0.0559	15	c.110 others(32): Show c.1108+523_1108+537dupATTATTATTATTATT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	8/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102293764	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01361.hp1 others(5): Show HG00735.hp2 HG01175.hp1 HG01361.hp1 HG02040.hp2 NA18954.hp1 NA18968.hp2 NA19002.hp1 NA19056.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0018 a0001c0001 a0002c0002 a0012c0018	a0001c0001t0001 a0002c0002t0001 a0012c0018t0001 a0001c0001t0001 a0002c0002t0001 a0012c0018t0001	a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0001g0177 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0296 a0002c0002t0001g0180 a0002c0002t0001g0206 a0012c0018t0001g0205	8	330	0.0242	15	c.163 others(34): Show c.163+33652_163+33653insTTTTTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBGT1_chr9_133147948_133168914	133160281	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(77): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01358.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010 a0003c0007 a0006c0014 a0011c0033	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0011 a0002c0010t0002 a0003c0007t0002 a0006c0014t0002 a0011c0033t0006	a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0084 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0003t0001g0083 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0019 a0002c0002t0002g0029 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0128 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0144 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0161 a0002c0002t0006g0048 a0002c0002t0011g0147 a0002c0010t0002g0143 a0002c0010t0002g0145 a0003c0007t0002g0142 a0006c0014t0002g0042 a0006c0014t0002g0149 a0011c0033t0006g0173	80	446	0.1794	15	c.137 others(32): Show c.137+1171_137+1185dupTATTATTATTATTAT	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6			chr9	TogoVar
GBP3_chr1_89001680_89027866	89021544	A A	ACACACAC others(8): Show ACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18990.hp1 NA19062.hp1 HG02080.hp1 NA18990.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0069 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0069 a0004c0004t0001g0150 a0004c0004t0001g0151	3	436	0.0069	15	c.-22 others(30): Show c.-22-802_-22-801insGGGGGTGTGTGTGTG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021832	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0073 a0004c0004t0001g0073	1	436	0.0023	15	c.-23 others(30): Show c.-23+851_-23+852insCTCTCTCTCTCTCTC	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar

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