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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
GARIN5B_chr19_55349908_55368260	55361108	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0002g0132 a0001c0001t0001g0131 a0001c0001t0002g0132	2	356	0.0056	0	c.655 others(5): Show c.655-5T>C		GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	5/10					chr19	TogoVar
GARNL3_chr9_127259774_127398660	127336130	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01099.hp2 HG01884.hp2 HG02055.hp1 others(16): Show HG01099.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0037 others(15): Show a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0071 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0193 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0288 a0001c0002t0001g0293 a0001c0002t0001g0294	19	300	0.0633	0	c.876 others(3): Show c.876G>A	p.Val others(6): Show p.Val292Val	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	11/28	980/3552	876/3042	292/1013		chr9	TogoVar
GARRE1_chr19_34249554_34360566	34328150	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0304 a0005c0015t0001g0304	1	326	0.0031	0	c.110 others(4): Show c.1103C>T	p.Thr others(6): Show p.Thr368Met	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	6/14	1959/6680	1103/3213	368/1070		chr19	TogoVar
GARRE1_chr19_34249554_34360566	34347871	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	326	0.0031	0	c.252 others(6): Show c.2522-6A>G		GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	10/13					chr19	TogoVar
GARS1_chr7_30589878_30639033	30595148	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00609.hp1 HG00673.hp1 others(78): Show HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA19001.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19067.hp1 NA19072.hp1 NA19078.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0004c0010 a0006c0009 a0001c0003 a0004c0010 a0006c0009	a0001c0003t0002 a0001c0003t0003 a0004c0010t0003 others(1): Show a0001c0003t0002 a0001c0003t0003 a0004c0010t0003 a0006c0009t0003	a0001c0003t0002g0240 a0001c0003t0003g0006 a0001c0003t0003g0012 others(55): Show a0001c0003t0002g0240 a0001c0003t0003g0006 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0210 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0215 a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0225 a0001c0003t0003g0226 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0229 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0239 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0004c0010t0003g0216 a0006c0009t0003g0213	81	402	0.2015	0	c.222 others(5): Show c.222+5C>T		GARS1	ENSG00000106105.15	transcript	ENST00000389266.8	protein_coding	1/16					chr7	TogoVar
GARS1_chr7_30589878_30639033	30633729	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(122): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0008 a0009	a0001c0002 a0001c0003 a0001c0015 others(4): Show a0001c0002 a0001c0003 a0001c0015 a0005c0014 a0007c0016 a0008c0012 a0009c0017	a0001c0002t0002 a0001c0003t0002 a0001c0015t0001 others(4): Show a0001c0002t0002 a0001c0003t0002 a0001c0015t0001 a0005c0014t0002 a0007c0016t0002 a0008c0012t0002 a0009c0017t0002	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0011 others(78): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0043 a0001c0002t0002g0088 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0003t0002g0240 a0001c0015t0001g0011 a0005c0014t0002g0001 a0007c0016t0002g0184 a0008c0012t0002g0009 a0009c0017t0002g0194	125	402	0.3110	0	c.209 others(6): Show c.2095-6C>T		GARS1	ENSG00000106105.15	transcript	ENST00000389266.8	protein_coding	16/16					chr7	TogoVar
GART_chr21_33498933_33547117	33525003	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	384	0.0026	0	c.106 others(6): Show c.1067-3T>C		GART	ENSG00000159131.17	transcript	ENST00000381815.9	protein_coding	10/21					chr21	TogoVar
GART_chr21_33498933_33547117	33531485	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18959.hp2 NA18981.hp1 NA19002.hp1 NA18959.hp2 NA18981.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	3	384	0.0078	0	c.597 others(5): Show c.597+4T>C		GART	ENSG00000159131.17	transcript	ENST00000381815.9	protein_coding	6/21					chr21	TogoVar
GAS2L1_chr22_29301650_29317787	29311454	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	424	0.0024	0	c.101 others(6): Show c.1011-8T>A		GAS2L1	ENSG00000185340.16	transcript	ENST00000616432.5	protein_coding	5/5					chr22	TogoVar
GAS2L2_chr17_35739511_35758239	35752458	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0057 a0004c0004t0003g0057	1	436	0.0023	0	c.385 others(5): Show c.385+8C>A		GAS2L2	ENSG00000270765.7	transcript	ENST00000604641.6	protein_coding	1/5					chr17	TogoVar
GAS2L3_chr12_100568684_100633288	100600382	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0277 a0004c0008t0005g0277	1	402	0.0025	0	c.19G others(2): Show c.19G>A	p.Val others(4): Show p.Val7Ile	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	4/10	272/5736	19/2085	7/694		chr12	TogoVar
GAS2_chr11_22661611_22818001	22726294	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0258 a0001c0005t0001g0258	1	272	0.0037	0	c.270 others(3): Show c.270T>C	p.Asn others(5): Show p.Asn90Asn	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	4/8	579/2236	270/942	90/313		chr11	TogoVar
GAS6_chr13_113815549_113869076	113834544	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp1 HG00423.hp2 others(25): Show HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01361.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02135.hp1 HG02293.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03492.hp1 HG03540.hp1 NA18522.hp1 NA18612.hp2 NA18970.hp2 NA18971.hp2 NA18990.hp1 NA19058.hp2 NA19074.hp1 NA19088.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0007c0014	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0013t0001 a0007c0014t0003	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0019 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0002t0001g0050 a0001c0002t0001g0139 a0001c0003t0001g0034 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0004t0001g0055 a0001c0004t0001g0087 a0001c0006t0001g0059 a0001c0006t0001g0088 a0001c0008t0001g0079 a0001c0013t0001g0069 a0007c0014t0003g0002	28	143	0.1958	0	c.834 others(5): Show c.834+7G>A		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	8/14					chr13	TogoVar
GAS6_chr13_113815549_113869076	113846520	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	2	143	0.0140	0	c.343 others(5): Show c.343+7C>T		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14					chr13	TogoVar
GAS8_chr16_90017680_90049960	90032718	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0003 a0006c0025t0003	a0006c0025t0003g0350 a0006c0025t0003g0350	1	390	0.0026	0	c.289 others(3): Show c.289G>T	p.Val others(5): Show p.Val97Leu	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	4/11	331/3094	289/1437	97/478		chr16	TogoVar
GASK1A_chr3_42974311_43062715	42979645	G G	A A	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG02165.hp2 HG02165.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0003 a0016c0017t0003	a0016c0017t0003g0195 a0016c0017t0003g0195	1	342	0.0029	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/5	335/3389	3/1728	1/575		chr3	TogoVar
GASK1A_chr3_42974311_43062715	43032269	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(132): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp1	a0001 a0005 a0007 others(4): Show a0001 a0005 a0007 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0001c0012 others(6): Show a0001c0001 a0001c0005 a0001c0012 a0005c0008 a0007c0013 a0011c0020 a0012c0019 a0013c0018 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0005t0001 a0001c0005t0004 a0001c0005t0012 a0001c0005t0014 a0001c0005t0020 a0001c0012t0001 a0005c0008t0002 a0005c0008t0003 a0007c0013t0004 a0011c0020t0001 a0012c0019t0002 a0013c0018t0001 a0014c0021t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(119): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0154 a0001c0001t0002g0191 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0013g0061 a0001c0001t0013g0089 a0001c0001t0016g0126 a0001c0001t0018g0109 a0001c0001t0021g0086 a0001c0005t0001g0003 a0001c0005t0001g0004 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0230 a0001c0005t0001g0248 a0001c0005t0001g0267 a0001c0005t0004g0307 a0001c0005t0012g0018 a0001c0005t0014g0193 a0001c0005t0020g0016 a0001c0012t0001g0045 a0001c0012t0001g0046 a0005c0008t0002g0021 a0005c0008t0002g0111 a0005c0008t0002g0247 a0005c0008t0003g0009 a0005c0008t0003g0127 a0007c0013t0004g0288 a0007c0013t0004g0305 a0011c0020t0001g0132 a0012c0019t0002g0122 a0013c0018t0001g0137 a0014c0021t0001g0118	135	342	0.3947	0	c.6G> others(1): Show c.6G>A	p.Ala others(4): Show p.Ala2Ala	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	2/5	338/3389	6/1728	2/575		chr3	TogoVar
GASK1B_chr4_158119474_158178025	158155828	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp1 NA19005.hp1 NA18975.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	292	0.0069	0	c.911 others(5): Show c.911-3T>C		GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	2/4					chr4	TogoVar
GAST_chr17_41707331_41720969	41715771	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	396	0.0025	0	c.212 others(5): Show c.212-7T>A		GAST	ENSG00000184502.4	transcript	ENST00000329402.4	protein_coding	2/2					chr17	TogoVar
GAST_chr17_41707331_41720969	41715772	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	396	0.0025	0	c.212 others(5): Show c.212-6C>A		GAST	ENSG00000184502.4	transcript	ENST00000329402.4	protein_coding	2/2					chr17	TogoVar
GAST_chr17_41707331_41720969	41715774	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02055.hp2 HG02257.hp1 others(16): Show HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0014 a0002c0003t0001g0018 others(2): Show a0002c0003t0001g0005 a0002c0003t0001g0014 a0002c0003t0001g0018 a0002c0003t0001g0031 a0002c0003t0001g0032	19	396	0.0480	0	c.212 others(5): Show c.212-4T>A		GAST	ENSG00000184502.4	transcript	ENST00000329402.4	protein_coding	2/2					chr17	TogoVar
GATA1_chrX_48781590_48799311	48793786	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	268	0.0037	0	c.871 others(5): Show c.871-7T>C		GATA1	ENSG00000102145.16	transcript	ENST00000376670.9	protein_coding	5/5					chrX	TogoVar
GATA2_chr3_128474427_128493530	128487921	C C	T T	splice_region_variant splice_region_variant	LOW	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0048 a0002c0002t0022g0048	1	434	0.0023	0	c.-25 others(4): Show c.-256G>A		GATA2	ENSG00000179348.13	transcript	ENST00000487848.6	protein_coding	2/7					chr3	TogoVar
GATA2_chr3_128474427_128498201	128481811	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	430	0.0023	0	c.114 others(6): Show c.1143+8C>T		GATA2	ENSG00000179348.13	transcript	ENST00000341105.7	protein_coding	5/5					chr3	TogoVar
GATA4_chr8_11699202_11765002	11704309	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01192.hp2 HG01515.hp1 others(8): Show HG01074.hp2 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG02280.hp2 HG02698.hp2 HG02735.hp1 HG03491.hp2 HG03704.hp2 HG04184.hp2 HG04204.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0008c0013t0010	a0001c0001t0007g0016 a0001c0001t0010g0010 a0001c0001t0010g0015 others(8): Show a0001c0001t0007g0016 a0001c0001t0010g0010 a0001c0001t0010g0015 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0012g0014 a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0019 a0001c0001t0012g0020 a0008c0013t0010g0013	11	340	0.0324	0	c.-45 others(6): Show c.-458+5G>A		GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	1/6					chr8	TogoVar
GATA4_chr8_11699202_11765002	11749093	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0088 a0001c0001t0045g0088	1	340	0.0029	0	c.786 others(5): Show c.786+8C>T		GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	3/6					chr8	TogoVar
GATA4_chr8_11699202_11765002	11750107	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0035 a0001c0002t0044g0035	1	340	0.0029	0	c.787 others(5): Show c.787-4G>A		GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	3/6					chr8	TogoVar
GATA4_chr8_11699202_11765002	11757087	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	340	0.0029	0	c.114 others(6): Show c.1149+4C>T		GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	6/6					chr8	TogoVar
GATA5_chr20_62458497_62480995	62465928	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00621.hp2 HG02523.hp1 others(2): Show HG00558.hp1 HG00621.hp2 HG02523.hp1 NA19068.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0002g0012 a0001c0001t0002g0078 a0001c0001t0001g0076 a0001c0001t0002g0012 a0001c0001t0002g0078	5	382	0.0131	0	c.826 others(5): Show c.826-7C>T		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	4/6					chr20	TogoVar
GATA5_chr20_62458497_62480995	62473404	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp1 HG01070.hp1 HG01071.hp2 others(1): Show HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1	a0003 a0005 a0003 a0005	a0003c0024 a0005c0013 a0003c0024 a0005c0013	a0003c0024t0002 a0005c0013t0002 a0003c0024t0002 a0005c0013t0002	a0003c0024t0002g0052 a0005c0013t0002g0030 a0005c0013t0002g0166 a0003c0024t0002g0052 a0005c0013t0002g0030 a0005c0013t0002g0166	4	382	0.0105	0	c.698 others(3): Show c.698T>C	p.Leu others(6): Show p.Leu233Pro	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/7	785/2620	698/1194	233/397		chr20	TogoVar
GATA6_chr18_22164589_22207528	22183050	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00741.hp1 HG01074.hp1 others(95): Show HG00544.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18955.hp1 NA18963.hp2 NA18968.hp1 NA18982.hp2 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19074.hp2 NA19082.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(84): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0145 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0001t0002g0144 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0259 a0001c0001t0006g0010 a0001c0001t0007g0032 a0002c0002t0001g0035 a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0074 a0003c0003t0001g0008 a0003c0003t0001g0065 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0072 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0073 a0004c0008t0001g0077	98	286	0.3427	0	c.162 others(6): Show c.1620+7A>G		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	6/6					chr18	TogoVar
GATAD2A_chr19_19400675_19513932	19495865	C C	CCACTCGT others(10): Show CCACTCGTCAGGGGGGCT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0225 a0003c0007t0001g0225	1	298	0.0034	17	c.739 others(24): Show c.739_755dupCTCGTCAGGGGGGCTCA	p.Gln others(5): Show p.Gln252fs	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	6/12	1107/5714	756/1905	252/634	INFO_REALIGN_3_PRIME	chr19	TogoVar
GATB_chr4_151665504_151766007	151688632	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01361.hp1 HG01978.hp1 NA18747.hp2 others(6): Show HG01361.hp1 HG01978.hp1 NA18747.hp2 NA18945.hp2 NA18948.hp1 NA19057.hp1 NA19060.hp2 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0145 a0001c0003t0001g0161 a0001c0003t0001g0162 others(6): Show a0001c0003t0001g0145 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0002g0209 a0001c0003t0002g0216 a0001c0003t0002g0245 a0001c0003t0002g0249 a0001c0003t0002g0254 a0001c0003t0002g0255	9	320	0.0281	0	c.132 others(4): Show c.1329G>A	p.Glu others(6): Show p.Glu443Glu	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	10/13	1354/2369	1329/1674	443/557		chr4	TogoVar
GATB_chr4_151665504_151766007	151688768	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0009 others(8): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0002c0002 a0003c0004 a0004c0008 a0005c0006 a0006c0007 a0008c0013 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0009t0001 a0001c0012t0001 a0002c0002t0001 a0003c0004t0001 a0004c0008t0001 a0005c0006t0001 a0006c0007t0002 a0008c0013t0001 a0009c0010t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(198): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0212 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0103 a0001c0003t0001g0145 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0009t0001g0182 a0001c0012t0001g0293 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0003c0004t0001g0311 a0003c0004t0001g0312 a0003c0004t0001g0313 a0003c0004t0001g0314 a0004c0008t0001g0190 a0004c0008t0001g0191 a0005c0006t0001g0030 a0005c0006t0001g0044 a0006c0007t0002g0013 a0006c0007t0002g0014 a0008c0013t0001g0092 a0009c0010t0001g0052	204	320	0.6375	-1	c.119 others(7): Show c.1198-6delT		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12					chr4	TogoVar
GATB_chr4_151665504_151766007	151716870	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	320	0.0031	0	c.640 others(5): Show c.640+6C>T		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	4/12					chr4	TogoVar
GATB_chr4_151665504_151766007	151717074	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02897.hp1 HG03540.hp1 HG02897.hp1 HG03540.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0013 a0006c0007t0002g0014 a0006c0007t0002g0013 a0006c0007t0002g0014	2	320	0.0063	0	c.442 others(3): Show c.442G>T	p.Ala others(6): Show p.Ala148Ser	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	4/13	467/2369	442/1674	148/557		chr4	TogoVar
GATB_chr4_151665504_151766007	151760800	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18987.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0008c0013 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0009t0001 a0008c0013t0001 a0009c0010t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(134): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0103 a0001c0003t0001g0145 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0009t0001g0182 a0008c0013t0001g0092 a0009c0010t0001g0052	137	320	0.4281	0	c.176 others(5): Show c.176+7T>C		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	1/12					chr4	TogoVar
GATC_chr12_120441444_120468749	120446651	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0186 a0001c0006t0033g0186	1	408	0.0025	0	c.82- others(4): Show c.82-6C>G		GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	1/3					chr12	TogoVar
GATD1_chr11_762222_782487	771430	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0143 a0001c0003t0004g0143	1	430	0.0023	0	c.451 others(5): Show c.451-4G>A		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	5/7					chr11	TogoVar
GATD1_chr11_762222_782487	772419	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0135 a0001c0001t0061g0135	1	430	0.0023	0	c.450 others(5): Show c.450+8T>C		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	5/7					chr11	TogoVar
GATD1_chr11_762222_782487	774000	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0145 a0001c0003t0004g0145	1	430	0.0023	0	c.247 others(5): Show c.247+8C>T		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	3/7					chr11	TogoVar
GATD3_chr21_44128683_44150711	44136053	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	54	0.0185	0	c.195 others(5): Show c.195-7C>T		GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	2/6					chr21	TogoVar
GATM_chr15_45356124_45383544	45368259	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0046 a0002c0004t0004g0046	1	296	0.0034	0	c.486 others(3): Show c.486T>C	p.Gly others(6): Show p.Gly162Gly	GATM	ENSG00000171766.17	transcript	ENST00000396659.8	protein_coding	4/9	577/2348	486/1272	162/423		chr15	TogoVar
GBA1_chr1_155229452_155246249	155235843	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0026 a0005c0005t0001g0026	2	393	0.0051	0	c.122 others(4): Show c.1226A>G	p.Asn others(6): Show p.Asn409Ser	GBA1	ENSG00000177628.16	transcript	ENST00000368373.8	protein_coding	9/11	1363/2291	1226/1611	409/536		chr1	TogoVar
GBA2_chr9_35731866_35754228	35738520	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	420	0.0024	0	c.205 others(6): Show c.2054+6C>T		GBA2	ENSG00000070610.14	transcript	ENST00000378103.7	protein_coding	13/16					chr9	TogoVar
GBA2_chr9_35731866_35754228	35738995	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01243.hp1 HG02109.hp1 others(10): Show HG01074.hp1 HG01243.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02647.hp2 HG02896.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0060	13	420	0.0310	0	c.179 others(6): Show c.1795+7G>A		GBA2	ENSG00000070610.14	transcript	ENST00000378103.7	protein_coding	11/16					chr9	TogoVar
GBA2_chr9_35731866_35754228	35741666	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG02055.hp1 NA19043.hp2 others(1): Show HG01175.hp2 HG02055.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	4	420	0.0095	0	c.786 others(5): Show c.786+6G>C		GBA2	ENSG00000070610.14	transcript	ENST00000378103.7	protein_coding	4/16					chr9	TogoVar
GBE1_chr3_81484703_81766645	81627315	GTGTCAAG others(16269): Show GTGTCAAGCACCATTCCAGTCCTGAGGAATAAAGTGGGAAACAAGATAAA CATGGTCTTTGCCCTGCTGAAACTTTTATTATTGGCTTCGTATAAAGGAG AAAAGCAAACTATGATAATAATGCAATCCAATAACTGGTATAATAAAACA CATACTCACATGGAAGAGAACAAAGAATGGAGGTGAATAATAACAGCATT TTTAACACAGGGTGGGGAGTAAGAAAGAGAATCTGGATTTGAAAAATCAT GTGGAAGTAAAATAAAGAGGGAAGGACCTGTAACAGTTAAATGTATGTGT GTTGTTTATGTGATACATCAATTCGAGCTCAACTGAGAAGTCTAATTTTA GAATAAACCATGGCAGTTATAAGAAACAATACTAATTCTTATAATATGCC AAGAACTGTTATAAGAAAATTATATATTTTACATATATATATATATATAT ATAAAAAACATATATATTTGTTGTTGTTGTTGTTCTTGTTATTTTCACTT TGTCACCCAGGCTGGAATGCAGTGGGCAGTGGTGCAATCATACCTCACTG TAACTTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTAAGCCTCCAAAG CACTGGACTACAGGCTAGGATTACAGGAGTGAGCCACATTGCTTGGCCAC ATATTTTTAATATTTTAAATCTTATAATAGCTCCATGAGATAGGCACCCT TTAAATTAGTATTTTAAAGAAGAATATGAGACACAGAGTTTATGAGACTT GCCCACTCCAAATTAGAGACAGGGAGGGGCCATTTGTTCCAGAGGCTTTC ATGACAATTCCAACCCCTTTCAGACTCAGGCGGCCCCCTTATATGTGTCT TCAACTATCAATACGTCACCCTGGGTTGCATTAGCATACATATTGTGTAT CATCCTCTTTAGACTTTTAATTTCCTGAAATAGGGGCCATGTCTTTCTCT TCTTCAAGGTGACCAGGTGCAGCATAGTCTCTACAACAAAAAGTTACTGA ATTCTTGAAAGAATGAATATCATGGCCATGAAGGAGACCTCAGGAAAAGC ATACAGATAAGAACATGAAGAAGACCCTAGATGGAATCTTGTGGACTCTA ACAGTGAGGGCAAGAGCTCTGGGAAATCTGAAAACTGATTTATTCATGTG ATCATTGTGGAAGAATGGCAAATGATAGAAATCAAAAATTCTGATCAGAG TTAGGCAAAATGCCAAAGAGCCAGTGATGAGTTTCTTCATTACTGCTAAC ATTGTTTTCTCTATGTAAATGATCATGTCATATTTACAAAATTTAATTAA TGAAACTTCTTTGAAAATTCATGACAAAACTCAATTGAACAGTCTGTTTC ACCATATATTTATATATTCTACCCATCATTTAAGCAAATAGCCTACCCTT TAAAATATAAAGGAGAAAGAACAATTGCATATATATATATATATATATAT ATATATATATATATATATAGCAACAGAGTATGTTACTAAATTATTTATTT CATCTTAATCCCAGGATAACTAAATTTTATACAACTAAATCATTCATTCT AATTCACTTATGCCTGAGTCATATTTGAGAGGTAAAAACAAGCCAAAATA ATTACTTACATGTGTTTACTGGCTGACAAATTGGTGATTTTACTGGTAGT TGTATAAAACAATTCTTGGCAACTGATTAATAATTAGTGACTATTATGTT TAAGTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTGTATCTCCCAATG CTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTCCTGAGAAT GATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAGTCTATTACATGTTTAATTTCTTAAGAGACATTTAGTACTTTTCA TAAAACATACACTTTTTTAGTTTATTGCTACTAAAAGGGTTTATTGAAAA ATAAAATATTATAACCACCTAACTCAATAAATGGATGTAGATTTACCCAA TGTAATGATTACAAAGCTGTTAACAGCAAGAGCCTTCAGACTACTTGCTA TACCTGTGTCATTCAATGCAGTTCACATGGGGCTACTGAGCCCTGGAAAC CTGGCTAGGGAGGCCACAAAACTGGATGTTTAATTGTATTTTTTATATAT TTTTTATTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACA TGCAGGTTTGTTACATATGTATACATGGGCCATGTTGGTGTGCTGCACCC ATTAACTTGTCATTTAGCATTAGGTATAATTCCTAATGCTATCCCTCCCG CCTCCCCCCACCCCACAACAGTCCCCGGTGTGTGATCTTCCCCTTCCTGT GTCCATGTGTTCTCATTGTTCAATTCCCACGTATGAGTGAGAACATGCAG TGTTTGGTTTTTTGTCCTTGCGACAGTTTACTGAGAATGATGGTTTCCAG CTTCATCCATGTCCCTACCAAGGACATGAACTCATCATTTTTTATGGCTG CATGGTATTCCATGATGTATATGTGCCACATTTTCTTAATCCAGTCTATC ATTGTTGGACATCTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGC CACATGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAAAGGA TGTGAAGGACCTCTTCGAGGAGAACTACAAACCACTACTCAATGAAATAA AAGAGGATACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGA ATCAATATCGTGAAAATGGCCATCCCCATCAAGCTACCAATGACTTCCCC ATCAAGCTACCAATGTCTTTCTTCACAGAACTGGAAAAAACTATTTTAAA GTTCATATGGAAACGAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCC AAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATTTTAT ATTGATGTAGATTTAAAAACTGGCACCCAGTTCCATTACTACAAAATTTA AGTATGTTTGAAACAACTCAGGTAGGTGAATCAACTTTTTGCTGTAAAAT TATGAATATTAAATACACATCAACTATTTCTGATGAAAAATTAACATCCA AATTGAGATGTGCCCTAAGTGTAAAATACACACCAAATTTCCAAAACGTA ATACCTCTAAAATACGTCAAATACCTTGTTTCTCAACTGATTTTTACATT GGTTTACCATTGATTACATGTTGAAATAATACTTTAAACATGTAATCAGT AGAGTTAAACTAGCCAATGTTATAGAAAATAGCTTAAAATCCTGTTTTCC TCTCAGAAAAGAGCATCATAAAATAGGATCCTAAGAAATATATAAGATGT TCCCTAGGCTGTGCATGGTGGCTCATGCCTATAATCCTAGCACTTTCAGA GGCTGAAGTGGGAGGATCACTTGAGCTCTGGAGGTGGAGACCAGCCTGGG CAACATAGGAAGGCCCCATCTCTACAAAAAATAAAAATAATTAGCCAGGC ATGGTGGCATTTGCCATTGGTCCTAGCTACTCAGTAGGCTTAGGTGGGAG GATTGCTTGGGTATGGGAGGTCAAGGCTGTCACGAGCCATGACTGTGCCA CTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTCTCTTTAAAAAGAAAA AAAGAAAGATATTCCCTGATATAAAATGCAAAATAAGCAAGGTAGTCAAT TCAATAACTGATTAGTAATAGCCTTTGGCACCTGGACACTTAAAACATAA GTGGAGGAATGCTTCATTTATTCGACATTGGAGGGAAACAAAGTAGTCCA CATAAAATCTACACAGTAATCCCTCATTAAAACACAGTAGACCGGTAACT TTAACTTAATCTCTAAAACAACATTTAAAAATTTAACAATGACCAGGCGT GGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCAGA TCACAAGGTCAGGAGATCGAAAACATCCTGGCCAACATGGTGAAACCCCG TCTCTACTAAAATACAAAAAAAAAAACAAAAAATTAGCCAGGTGTGGTGG TGTGCACCTGTAGTCCCAGGTACTCAGAAGGCTGAGGCAGGAGAATCACT TGAACCTGGGAGGCAGAAATTGTCGTAAGCCGAGATTGCACCACTGCACT ACAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACATAA AAAATAAAAAATTTTTAATGGAAACACTTTGAAATTATATTTTACTTTTT TTATTATACTTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTT ACACAGATATACATGTGCCGTGGTCATCTACATTAGGTATTTCTCCAACC TGTCATCTACATTAGGTATTTCTCCAAATGCTATCCCTCCCCTTGTCTCC CACCCCCCAATAGGCCCTGGTGTGTGATGTTCCCCTCTCTATCCTCATAT GTTCTCATTGTTTGACTCCGATTTATCAGTGAGAACATGCAGTGTTTGGT TTTCTGTTCCTGTGTTAGTTTGCTGAGAATGACGGTTTCCAGCTTCATCC ATGCCCCTGCAAAGGACATGAACTCATTCTTTTTTTATGGCTGCATAGTA TTCCATGGTGTACATGTGCCACATTTTCTTTATCCAGTCTAATATTGATG GGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATA AACATATGTGGGCATGTGTCTTTATAGTAGAATGATCTATCTATCTGACA AAGAGCTAATATCCAGAGTCTACAAAGAACTTAAACAAATTTACGAGAAA AAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTT TTCAAAAGAAGACATTTATGTGGCCAACAAAGATGAAAAAAAAGCTCATC ATCACTGGTCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATC TCATGCCAGTCAGAAAGGTAATCATTAAAAAGCCAGGAAACAACAGATGC TGGGAGGATGTGGAGAAATAGGAACGCTTTTACACTGTTGGTGGGGGTGT AAATTAGTTCAACCATTGTGGACAGTGTGGAGATTCCTCAAGGATCTAGA ACTAGAAATATCATTTGACCCAGCAATCCCATTACTAGGTATATACCCAA AGGATTATATATTTTACTTTTTCCTGGCATCTTAAAAAGAAATTTTGAAC ATGACTTGAAGTTTATTTTTTAATGACTCAGACTCATTATCATCAATTAT TATACTATACTGCAGTCTAACAATGCCCAGAGGGACAATTACACTGTGCG GAGCTGTTTGCTGCTGCACGTAAATGGCCTTACAATGCTGGGCATTCAGT TTTGGTTTCTGACCTTGAGGCACTTTCTCTTTCTTCCATTGTTTTTTGCT GTGACTTCTCAATACTGTTAGATATTGATCACAGTTGGTCAGTTCCACAA TTGTTCTGAATTTTGTCCTTCTACCAAAAAATAGCTTGACATCCTTTTAA AAATAGTGTGATACAACAACGAACAAATATCCATAAACATTATGGCACAT GGTTTGGCTCATGAAAAAAATATTATTACCTGTTTCAATGCTTGTAGTTA TGTTTCAGAGAACGAGGGTGGCTAGTAAGTCTGACCACAGATAATCATGA CAATGATATTGTGATGACAGTGACAATGACAATTATCACAACTATAATTG AGACACTGGGGGAAGTGTGTAATGAGCCCTTCACAATTATACAAGGTAGA TAAACTATAATCTTATTAGTATTTTACAGAGGGGGAAATTAAAGTTAAAC TTAGAAAGATTAACCTGGCTGTGGTTACATGCTAGTAAGTGATGAACTAG TATTTGAGCCCAGGCCTATACCTATTCTCTATACTGCCTGCAAGGTCAGT ATCTATATTTATATTTTAAAAACAAATTAACAGCAACTTAGATGCAAAGC ATTAAAAGAAACAAGGTTACCAAATTTTAACTATACAGATTTCTTTAATA AAGTTGTATTCTGCTTTACTGAACCTGATATTAAAAGACATTTATTTTGT TTATTCCTCTACTACTTAAAATCAAGGAGATATTACACAATTCTGCTAGG TGATAATATACTAATAGTTGAGGTTTATAAAATTACCATTGCTAATACAA AATAGAGTATTAAATACTATATTTAATCTATGAAGGTATAGTTGTCCTTA TTAGATTTGACTTATGCCTTAATTTATTTGGTAGTTTGGTAGAATCTGAT TTGTTGCGTGTCTCCTAAGGCACATTTTGGAACCCAGAGATAGCCTTAGT GACTGGTTTTTATCCATCCTGCATGTATGTTGCTTTGGTATGCACAGTGA ATGAACATTTTAAACTAATTGTATGACATTTTAACATAGGGAGGTTTCAT ATAAAATGTGGGCTCCTGACTTAAATAACTAGAAGATGTGGCTCCATGGG TCCACATTCTCAACACGAAAGCAACTGACAATTGTATTCGAAATGGTTTG TGAATGGCAGCCACCTCAGAGGAGATCCGTTTGCCAGGTTGCCAGTAAGA ACCACCTGGCCTGCTTCTCTCAGTTACCTGCCTCGTTCGCGAGTCCTGCT TTTATCCTTTAGTAAAAATCTGAAAGTATAACTCCAAACTTTCCATGATA TTCTATATTCTAGTTGTTGCACATTTTCAATCGTATTATTTTATGCAGTC TGAACCACCGCCCTATGGCACATAAATAATATCATTATGAGTTCTTTATA CATGAAACTGAAACTCAAATGTAAGCAGCTTGGTTCAAGAGCAGAGAGGT AAAGATCATCCAATTCTAAAACCACCCACTTTATATTGTGTATTAAATCA ATTAATCTTAATTCTATATAGTATACATGATTATTGCTATTATTAGTGTT GTAATTAGCATTTTGGGGGGAAACATCTTGTGTGGCTTTCTTCACTGTTT TCAGTACTAACGAACAGGAATCTATCACATCACTTTGCAGTGTTGCCGCC ATGGCAAGCATGATGGTGAAAAGTTTATGACAGAGACTTGAGAGAGAGAG AAAAAGAGAGAGAAGGAGAGATCAAGAGACAGGGGGAAAAAAGAGAGGTA TTTTACTTTACATAAAATATATCCCATGAGAAACAACAAATTATTAACTT TCCTTTCACATTTAATATGGAAACAACAAATATACCACTAAAATTTAAAA ATAAACAACTATTCCAAATGTCACATGGTGGGAAAGACAATGGAGAAAAG TTAGTGAAGGAACATGTGGCAGGGAAGCATGGTAGGGACTAGATGAATTA TTTTATATCAAGTGGCCTGAGAAGCTTCTAAAGCACCTAATGCTTCAAAA CTGCATGAATGAAGGTATGACAGTAACCATCATGAATATCATAATCTCAC AAAGGCAAGGGGAACCCACCTGGACAGCTCATCGGCCTCCTTCACTGTTC TTAACACAGTGTTAAGAACAGAGCTCCAGTCTCAGACAACTTGGCTATCA TGCTGTTTTGTTTCCTAACGTGCTATGAGAAAATGTAACTGTAACTGCCC CCAAGTTTTAATGATGCTTTCAACAGACAGAATTTGAAAGGCTATACAGG TAAAAGTCTAATCTTGGGGAGACAGTTAAACCTAGAAGTAGACAAGGAAC CAAATCCTGTGGCTATCGGCTTCTCTTACATATGGTGAAAGAAACAGAAG GAAGACCGAAGATCCAAGTTACAACTCAATAGTGATGCCTCAACATTATA AAATGTGGATGGGAAATGCAGAAGTTAGATAAAAATCTGCCTGCTCACTA ATCTAAGTTAATGGGAATAAGGTCCTCAAAAATGAATAATTTTATATTAC TTATATATGGATGCTTTCGAAATTATAAGAAAAACCTATATTTTCTGAAA GTAAGTGACTCAATGTAACATGAGTTATTTATCTGCAGCATAACACTAAG GAAATCATTCAGCTAGAAAACCATGAAATATCTCTTCATAACTTCAAAAC TGCTAGTCTATTCTGTAGAAAATAGACATGTTTAAACAAGCTGTTTTGCT ACACCCAGATAAAAACAGAAAAATTGATTTTTTCCCACTTTTAACCTGCT TATTTAAAAAGGTCATAAACAAAACCATTATTATTATAGATACCACATAA TTCCCAGACTTAAATGGATAATCACTTGAATAGGGACCTTAGGACCATTT TCACAAGCATGCACCAACCATTGTTTTAAGCGAAAGAAAGAAAATAGAGA GATGTTTTAGGGCAATGAGCAGCATTTTTAAACTTAAGGTAAATTACCCA GCAGAACTGTCCTACTTCAGCATGAGTTTGGATTTGAGAAGGTGAATGTT ATAGGTGAGTAAGACGTAAATACTCAAGATACTTTCAAAATATCCCTGTG CTCCTAAATTTTAGGCTTGTGGGGAATAAACGAGGCAGATAATACCAGGA ACAAAGTTTATACAAAGACGGTAAATCCTTACTCCTGTGCTACACTCTGC ATCAACAGAAACTTTTCTGCTAGACTGAGTAATCTCATAAACCCTGTGAG AGAAGTTATATTTCTACCATTCAAACTCAAATCCAGACAGATTGGATTGA TATAGCAACTTTCTTAATCTCTTTTACAGAAGAGAATTAGTCTGTCTGAA TTTTGAAGCTAACTCTACTTTATTTGAAAGAGTAGTAGATTTAACTGTTC TCCTTAATCAAGCTGAAATAAGATTCTGGTTTTAACAAGGAAGAAATGCT GAAAGGGAAAGAAAAAATATTAAGAAAACAGGAAGACTTTTAATGGGACA CTCAGTACTCTCAAAAGTTATTAACATACTGTGAGATTATAATATTCTTA GTGAAGAACAGGCTATAAGTTACTGCTTATTTCTTACTGTCTGACTTCCT TTGGAATAGTTAGCTGTTTGCTAAACTATGTCCAAAATGTCTTTTAATCA TCCATCATTTGTTTTTTGGCTTTTTTTTTTTTTGAAATGGAATTTTGCTC TTGTTGTCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCT CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGGTG GGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAG AGACAGGGTTTCTCTATATTGGTCAGGCTGGTTTTGAACTCCCAATCTCA GGTGATCAGCCCCCCTTGGCCTCCCAAAATGCCGGGATTACAGGTGTGAG CCGCCATGTCCAGCCATCATTTGTTTTTGTAAAGCATATAAGGCAGGTGT TTATATGTCTAAAATGATGCTATATTACTTCAATTATAAAAAAATTCAGT GCTTTGAAATCTATCCAGTGAAATTAAAAACAAATACATTAGCTCTCCCT TATTTTTAGGAGATACAGTCCAAGACTGCCAGTGGATGCCTGAAACCATG GATAATACCAAACCCTATATATACTGTGTCTTTATACATACATACCTATG ATAAAGTTTCATGTATAAATTAGGCAAAATAAGAGATTAACAATAACTAA TAAAATAGAACAATTATAATAATATACTGTAATAAAATTTATGTGAATGT AATCTTTCTTTCTCTCAAAATGTAATACTGTACTCACTCTTCTTCTTGTG ATGCTATGAAGATAAGGTACCTATATGATGAAGTGAGGTGAATGACCTCA TTGTGACATAGCATTAGGCTACTATTGAAAACTAATAAAAAACTTATGAA ATGCTTATTTCTGGAATTTTCCATTTAATATTTTCAAGCTAAAGTACTAT GAGTAACTGAAATCACAGAAAGCAAAACCACAGATAAATGGGGGCGCCTA CTGTTCTCTGAAAGGAGTGATTTTTTTAAGTCTATCTCTCCAAAATTTCT GACAAACATATGCTCCAAGCATATATATTGAAAAATGCAGCATAGTATAT GTGTATCTCTAACTTTACCAAATAATACCAAATTGTTTTCAAATGTGGTT GTACATATTTATCCTTTGTATGCTATTTTTTCTGTATTTTTTTTGTTTTT GTCATTGGGTGAATTGTTCTCTTTGTAATTCAATGACAAAATCAAAAAGT AGTGTATGACTTAAAAATCCTCTTAAAAATAATTTTAGAATTTTCCATTC ATGTCATGGTTGCTTAGTTTTTAAATAATCTTGCTAATCATGATGGTGTC ATATACTCGTTAGCTAGTATACTGATGCATAATAACCCTCAAGTTAATAT TTATCATTGAGAACTGATTTGGTCATGATGTAATATCATATATAATTAAG CTAAAATTTTGTTTAGAATACTTACATCTATGGTCATGAGGGCTTACCTC AGGAATGCAAGACTGGCTTACCATTAAAAATCAATTCTAATTAACCATAG AAAAGCCATATGGTAAGATATCATAGAATAATTACCTCAGATACAAAAAT CCACTCTGAGCAGGGAGAACCCCTTGAATTTCCTTCCACATACTAACTTG TAGAAAATGCCCACCATGGTTAAGAAGTCCCAAATATTATATATAGTGTC TATCCTAAGAGTACTTTATTCTACATACTTATGACCCTAAAAAGACCAAT TGGACTCACTTTTGTTTCTGAAAACAACTCTAGTTGCTCAAGAAAAGAGA GTATCTTTTAGCCTAATGGTTACCATATTATGAACTCAAGCTGATGAAAT ATAACTATATTAATTTTGTGTCCAAACATAAGTTTAAGGAGGAAAAACAT GAGCATTAGATCTACTTTGCTATCTCCTTTAGAAGTCAGTATTTTATCTT TGAAAGAAATATTTAACGAACAAAAGATATTCATTTGAAGATTTAGTAAT GGTTATGGCATAGCAGTTATTTAAATCCAACAAGTTTTCATTGTCTTAAA AGTGCATTTATGTAGTGCCAGAGGAATATGCAAACAGAATTTAAAACTGG GACCACTACATTATATTCATTATTACTAATTCTAGAAACTCCTGAAACTT ATGGGTGACACACTTGTCAGAAAGTTCTCTTTACCAAATAAAGGACAACC CAATCTCTGTGATGAACTGTCATTACTAATTTAGCAAAGCTAGAAGGCAG TTCAGCTGAGTAGACAGAAAATTAAACATGGGCAGCTCCTGATTGGAAAT TTATTCATAGCAGGTAATGAAATAGCACAGTCAGGATCTCTGGTATTACT CAGAGTAAGAGATTTAATTCTGGTAACTTTGATGATGGCACTTGAATCAC AGATTCTAAATGGTGACAGGTTGTGACATATAGATAGGATAAAATGAGCA TCAGCAACATATCTCTACAGAAGCAATTCTATAACATCAATTTTTTCAAA CAGTAAATATAATAATTTCAAAAATTATGACAAAAGTTTTCAAAGAAGAG GCTTAGGTCTTAAGCAAGCCATGTGCCATATTTATGTCTGTTTGTCAATG GGTTATAAAATTAATCAGCCTAACAAATGTAAGGGGTGGAAAAATTTGTA TTTAAAATATGAAACATAAATTGTAATTTCTGATTTCATCTGAATAAGGA ACAAACTCAAAATTACAGGCAGAGTAGCTATTTTATGAAGAGGGTGAAAG TGAAGGATTGGGTTATGTATTTCTATGCATGTAAGGAATATTCATTAAAT GCATTCACATATAGCTAAATACAAGTATGTTGTTCACATTTTTCAAATAT AGTTTTTTTATTTTGAATTTTGTGTGCCTTTTTAAATTTTCTAATTACAA TGGCATTATTTTATAATGAAAGGTGTATTTTTTTTTAAAAAAAATGGCTA TTTCAGACATAACTCTCTGATAATTCTCATAACAGAAATATGGCTGAGTA AATAATATTTCCACATGAACAGGTATTTCAATACATCTATTTTGAATTTG TAAAGTAGCATATTCGTTGTGTGTGGTTAAAATTACTTAACGCCCCTTCG AAGGGAGGGGCGTTAAGGAATTTTAAGGATATGTGCAAAAATTCTCTTAT CTTTACCTAACAAGTTTTATTAGATAAACTAACAAGTTTTCAAGTTTTCT TGAAACTGTGATTGACCAGTAGTTTTCAACAGAAATGGCACTCTGCCATG TTCTAAACCCAGACCATATAAAATGGCAGCTTGCATATCCTGTCTTTTGG GACTATCGCTCTTGTGAGAAAGCCCAAGTTGTCTGTGGAGTGGGCTAGGA GGAGGGGATTTGGGGTCCTCAATCTCACAACCAAGGCTGAGCTCCTAGCT GACAGCCAGCACCAACCGTAGGTCACATGAGTGAACCATCCTGAAAGCAG ATGCTCTGTCCCCTATATGAGCCACCCCAGGGGACACAAGGTGAAGAAAA GAAGAGCAGTCCACACTGAGGTATACCCAAATTGTGAGTTTGGGAACAAA ATAAATATTGCTGTTAAGTCACTAAATTTTTGGCTTACTAAGCAGCAATA AATAACCAAAAGAGCAAAGTAGGACTTTGATCATGATTGCTAAGAAGTAT TTGTTTAAATGAATTTATATACACTGGCTTTGGAGGATTTTATCTATATT GTTTAATAATGTCATGACTAATTGTGATGGTTTATACTGACTGTCAACTT GATTGGATTGAAGGATGCAAAGTATTGTTCCTGGATATGTCTGTAAGGGT GTTGCCAAAGGAGATTAACATTTGAGTCAGTGGACTGGAAAAGGCAGACC TACCCTCAGTCTCGGTGGGCACCATCTCATCAGCTGCCAGCACAGCCAGA ATAAAAGCAGGCAGAGGAATGTGGAAAAACTAGACTAGCTTAGTCTTCCA GCCTCCATCTTTCTCCTGTACTGGACGCTTCCTGTCCTCGAATATCAAAT TCCAAGTTCTTCAGCTTTTGGACTCTTGGGCCTTTCACCACAGACTGAAG GCTGCACTATCGGCTTCCCTACTTTTGAGGTTTGGGGACTCAGACTAGCT CCCTGGCTCTTCAACTTGCAGATGACCTATTGTGGGAATTCACCTTGTGA TCCTATGAGTCAGTTCTCGTAATAAACTCCCCTTGATAAATACATATAGC TTCATATATAAATATATATATATATCCTATTAGTTCTCTCCTGCTAGAGA ACCCTAATACATTAATAGTATAAACCTATATAGAAAATACTAATTCTATA AAATGGGAAAATTTAGATATTGGTCAAACAGAATGACATGTAGAATAATA CAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGAC AGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTA AAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAA TAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTT TGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATC CCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTACAACAAG GTACACTACAATAAACATGTGAATAAAATAAAAATGTTGTATAACATAAA AATCCATCCACTTAATGTATTTCTTTTTAAGGTATAATTCTACAGAAGAA TTGTTTTAAAACATAAAAATCTAACTATTTAATAAATATATTTCTTTCAT AAGGCACAGTTCTACAAAATAGAGTCAACCCTCCTTCATCCAATTATAAA CCAGAGAGTTCAATTAATTGAATTTCTTGGGCATATTCTACTTCTATAAG ATGTACTCAATGTAATTAGTAGAGTTATGTAATTGCAGTTTTTTGCCAAT AAAAGTAAGGGCAAAAACCACAATTACTTTTGCACCAACCTAATATATCA CAGAATTAACACAGATTTAGTCTTTTTTATTTGCCATAAATCTGTGGCAT AATAATAAATGTTCAAAAGGTGACATGAATACAAAATACCTTCATGAGCA AAACTATATTAGTCCCCAAACTCTGCCTCCTTCTATAATAAAAAGCCTGA GAATAAGAATGATTAATCAGTTTGTACCAGAGTGAGTCTAGGCCAGGAAC CCAGCTACCATCTTGTTTCTTTTCTCACCTATTACACTGTCTTATCTGGC ATGAGTGATTCCTGAATGGCTATGAAATATAAAATAATGTATGATATCCA GAAATAATGTATGAATTTCCTTCATATATAAGTCATCTAATTTAGGTTGA AAAATGAGACCTCTTCATTTTATAAAATTATTTGCTGAGACATTTTTCTA TACAGCCTATTTTCTAGGTATATTTATGTTTATGTATGATGCAACACTGG AAAGAAAATTCATTAATTTTTTTCAAAAATACATACACATATATAAAATA TATATAATATGTATATAATACATATACATATTTCAAATATGTATATGTAT TATAAAAATATGTATTATACATTACTTGATACTTTGCTTTTAATATGCTT GACATTTTCATTTTTTCACTTACAATAAATAATAAACACAAGTTCATGGT TTTTTAACTTGTCTTTTTAATTTTTGCCATATGCTATTTAATCACGTAAA ACACTCTTCTCCTTAAATGGTAGAAGAGGTCAGAGATCTGTCTGATCTTA ACAAATGGTTTCAACACTAAGCCTTAGTTTATTTATCTGTAAGATGGCTA TAACAATAGTGTTTACCACATGTAAGTAGAGTTGCTGTGCAGATTAAATA AGATAAAATAGGTAGCTAATATATCTAAAACACTTGGCACCATACATGAA ACATATTATATACTAGTAACTGTTGTTTTATAGTTATAAATTAATTTAGC TGTAATCAAAACCATGTAATTTTAAGATATGAAGCAATGAAGTATGATTT TTTTAAATGGCCTACTTAAAACAATGTATTTCTCTAGTAAAAGGAGACTG GCTATGGTTTAAGTCAAATTGATAAAGTGGCCTTTTAGATATTAAAAAAA AATGATTCACAGTAAAATTTTTAAATGATTATATAACCAATATATTTTAC ATGGCGTAAGATATGTAAAATTGAAATTTAATGAAATATACCACAAATAC ATGTGCTATACAAAACAAGGTAAAATCCCCTGTACAACAAAAATAAATCC AATTAAGAACATTAAGTACCAGTGAGAGAGTACACACACAATGAATTTAG TGAAATTCTTAAAAATTAATGTTAAACAGCAACAATAGAAAACATTTCTA TATTGTATGTACCTACCTGGAGTAGGCAAACAATCTGCTATCCCAAAGAT CATGAGTCCCTCTAGGTCCAGAATGAAAATAACAGGAATCTGTCCCATCA AACATATTCAATCCATCTGCTGAATTTTTTGAAGCATGGCTGTGTACCAC ATCTAAGAGGACTATGATACCCATGGAATGAGCTGTGTCTACCAGTTCTT GTAGCTCTTCAGGTGTTCCATAACGGCTAACAATGAAGAACACAGCAAAA AGAAGATTACATCACATTTAGAGGAAACAGCCGATTGTGCAGCAATTGTT TCACCATCGCAGTACTAGATACTTTAAATATCCAAACAGCATGTGACATG ATACCTGGATACAACTCAAATTTGCTTAATATCAAATATTAAGCAAATTT AAAACCATCAAGTTAGAAAATAATTTAAATCGGGTTATTAAATGTAGATT TATACCCCAACCAAAATTCACATTTTGAGGATGTAAATAATAAAACTCTG CTTCTCTATTTTCAGAGCTTCTGATTTCCACCTGAAGCAAGTCATTCCTG CTCTGTTTGCCCACTGCCCATTACTTACAGGGTGTACATTTGAGATTGAG GGGCTCTTCAAGAATTTATTTGAATATCCATGGTACCTTGATTGAGGTTA TCCCTCCTGCACTTATTCCAAAAACAGAATGCCCACAGTTACCAGTGGGC CAAGACAATGTGCCACGTTTGTCACCACCCAAGTAAATAAGATGGGTAGC TCACAAGCAGGTGTGTTTGTGTCAAAGGTACCCCCTAGTCTGAATGAAAT AGGTAACAAAAATTACTCACAGAAGAA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00597.hp1 HG00597.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0104 a0009c0016t0001g0104	1	304	0.0033	-16276	c.783 others(17): Show c.783-601_992+15465del		GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	7/16					chr3	TogoVar
GBF1_chr10_102240532_102387896	102352451	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02486.hp1 HG02965.hp2 others(3): Show HG02280.hp1 HG02486.hp1 HG02965.hp2 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0004 a0001c0021t0004 a0001c0004t0004 a0001c0021t0004	a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0004g0014 others(3): Show a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0017 a0001c0021t0004g0016	6	330	0.0182	0	c.524 others(5): Show c.524-7T>C		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	6/39					chr10	TogoVar
GBF1_chr10_102240532_102387896	102376430	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0002 a0009c0015t0002	a0009c0015t0002g0062 a0009c0015t0002g0062	1	330	0.0030	0	c.404 others(4): Show c.4045G>A	p.Val others(7): Show p.Val1349Met	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	31/40	4305/6403	4045/5583	1349/1860		chr10	TogoVar

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