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
GAS7_chr17_9905606_10203606	10017128	CTAAAAAA others(9): Show CTAAAAAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02258.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0004 a0001c0001t0009 a0001c0003t0004	a0001c0001t0009g0037 a0001c0003t0004g0045 a0001c0001t0009g0037 a0001c0003t0004g0045	2	218	0.0092	-16	c.304 others(33): Show c.304+2633_304+2648delTTTATTTATTTTTTTA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10046781	AAAGAAAG others(9): Show AAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	218	0.0046	-16	c.184 others(35): Show c.184-26900_184-26885delCCTTCCTTCCTTTCTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10046785	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19060.hp1 HG01981.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0051 a0001c0001t0020 a0001c0001t0051	a0001c0001t0020g0096 a0001c0001t0051g0108 a0001c0001t0020g0096 a0001c0001t0051g0108	2	218	0.0092	-16	c.184 others(35): Show c.184-26904_184-26889delCCTTCCTTCCTTCCTT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10114696	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0075 a0001c0003t0024g0075	1	218	0.0046	-16	c.183 others(35): Show c.183+83496_183+83511delTGTGTGTGTGTGTGTG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10160939	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01255.hp1 HG01361.hp2 others(2): Show HG01071.hp2 HG01255.hp1 HG01361.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0042 a0001c0001t0001 a0001c0001t0013 a0001c0001t0042	a0001c0001t0001g0189 a0001c0001t0013g0027 a0001c0001t0013g0029 others(2): Show a0001c0001t0001g0189 a0001c0001t0013g0027 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0042g0028	5	218	0.0229	-16	c.183 others(35): Show c.183+37253_183+37268delGTGTGTGTGTGTGTGT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GASK1A_chr3_42974311_43062715	43013855	ACAGGCAG others(9): Show ACAGGCAGGGGCTTTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(31): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA20300.hp1 NA20300.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0004c0004 a0004c0016 others(1): Show a0002c0002 a0004c0004 a0004c0016 a0008c0025	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(7): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0024 a0002c0002t0025 a0004c0004t0001 a0004c0004t0004 a0004c0016t0004 a0008c0025t0002	a0002c0002t0002g0015 a0002c0002t0002g0170 a0002c0002t0002g0171 others(31): Show a0002c0002t0002g0015 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0002g0241 a0002c0002t0004g0293 a0002c0002t0005g0093 a0002c0002t0009g0306 a0002c0002t0009g0308 a0002c0002t0009g0309 a0002c0002t0009g0310 a0002c0002t0024g0299 a0002c0002t0025g0294 a0004c0004t0001g0027 a0004c0004t0001g0054 a0004c0004t0001g0080 a0004c0004t0001g0092 a0004c0004t0001g0222 a0004c0004t0004g0284 a0004c0004t0004g0285 a0004c0004t0004g0286 a0004c0004t0004g0287 a0004c0004t0004g0289 a0004c0004t0004g0292 a0004c0004t0004g0295 a0004c0004t0004g0296 a0004c0004t0004g0297 a0004c0004t0004g0298 a0004c0004t0004g0300 a0004c0004t0004g0301 a0004c0004t0004g0302 a0004c0004t0004g0303 a0004c0016t0004g0283 a0008c0025t0002g0015	34	342	0.0994	-16	c.4-1 others(31): Show c.4-18411_4-18396delCAGGCAGGGGCTTTGT	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4			chr3	TogoVar
GASK1B_chr4_158119474_158178025	158141920	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(207): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0004c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0066 a0001c0001t0002g0110 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0006g0084 a0001c0001t0006g0153 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0175 a0001c0001t0007g0082 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0009g0146 a0001c0001t0009g0147 a0001c0001t0010g0068 a0001c0001t0010g0080 a0001c0001t0011g0020 a0001c0001t0017g0142 a0001c0001t0018g0151 a0001c0001t0019g0100 a0001c0001t0020g0141 a0001c0001t0021g0105 a0001c0001t0022g0132 a0001c0001t0023g0081 a0001c0001t0024g0180 a0001c0001t0029g0056 a0001c0001t0031g0214 a0001c0002t0012g0045 a0001c0002t0013g0182 a0001c0002t0013g0183 a0001c0002t0014g0038 a0004c0005t0002g0163	210	292	0.7192	-16	c.112 others(37): Show c.1126-10924_1126-10909delAAAAAAAAAAAAAAAA	GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4			chr4	TogoVar
GATA4_chr8_11699202_11765002	11764257	AAAACAAA others(9): Show AAAACAAACAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01952.hp2 others(39): Show HG00438.hp2 HG00673.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02895.hp1 HG02922.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp2 NA18974.hp2 NA18986.hp1 NA19005.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0045 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0045 a0001c0002t0003 a0001c0002t0031 a0001c0002t0032 a0001c0002t0044 a0003c0005t0021	a0001c0001t0002g0236 a0001c0001t0002g0249 a0001c0001t0002g0283 others(39): Show a0001c0001t0002g0236 a0001c0001t0002g0249 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0292 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0139 a0001c0001t0003g0152 a0001c0001t0003g0162 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0198 a0001c0001t0003g0205 a0001c0001t0003g0214 a0001c0001t0003g0219 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0003g0299 a0001c0001t0045g0088 a0001c0002t0003g0024 a0001c0002t0003g0104 a0001c0002t0003g0119 a0001c0002t0003g0126 a0001c0002t0003g0138 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0228 a0001c0002t0003g0246 a0001c0002t0031g0207 a0001c0002t0032g0031 a0001c0002t0044g0035 a0003c0005t0021g0023 a0003c0005t0021g0026 a0003c0005t0021g0030	42	340	0.1235	-16	c.57 others(27): Show c.5783_*5798delAAACAAACAAACAAAC	GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding		4256		chr8	TogoVar
GATA5_chr20_62458497_62480995	62476885	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	382	0.0026	-16	c.-99 others(25): Show c.-993_-978delGAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477058	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01192.hp2 NA18747.hp1 HG00735.hp2 HG01192.hp2 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0006 a0001c0008t0008 a0001c0002t0006 a0001c0008t0008	a0001c0002t0006g0024 a0001c0008t0008g0144 a0001c0008t0008g0153 a0001c0002t0006g0024 a0001c0008t0008g0144 a0001c0008t0008g0153	3	382	0.0079	-16	c.-11 others(27): Show c.-1166_-1151delGGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1064		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477086	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02080.hp1 HG02027.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	382	0.0052	-16	c.-11 others(27): Show c.-1194_-1179delAGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1092		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477090	CTTCCTTC others(9): Show CTTCCTTCCTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01070.hp1 others(3): Show HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG02273.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0024 a0005c0013 a0001c0001 a0003c0024 a0005c0013	a0001c0001t0001 a0001c0001t0004 a0003c0024t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0024t0002 a0005c0013t0002	a0001c0001t0001g0163 a0001c0001t0004g0160 a0003c0024t0002g0052 others(2): Show a0001c0001t0001g0163 a0001c0001t0004g0160 a0003c0024t0002g0052 a0005c0013t0002g0030 a0005c0013t0002g0166	6	382	0.0157	-16	c.-11 others(27): Show c.-1198_-1183delAGAAAGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1096		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477221	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	382	0.0026	-16	c.-13 others(27): Show c.-1329_-1314delGAAGGAAGGAAGGAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1227		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477301	TCTTTCCT others(9): Show TCTTTCCTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0244 a0002c0005t0004g0244	1	382	0.0026	-16	c.-14 others(27): Show c.-1409_-1394delGAGGGAGGGAGGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1307		chr20	TogoVar
GATA6_chr18_22164589_22207528	22191032	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG02809.hp2 others(3): Show HG00741.hp1 HG01074.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0002g0030 a0001c0001t0002g0031 others(2): Show a0001c0001t0001g0005 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0007g0032	6	286	0.0210	-16	c.162 others(35): Show c.1620+8015_1620+8030delTGTGTGTGTGTGTGTG	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATA6_chr18_22164589_22207528	22204450	CTTTCTTT others(9): Show CTTTCTTTCTTTCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(91): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18950.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18982.hp2 NA19000.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0006t0002 a0002c0002t0002 a0003c0003t0002 a0005c0004t0002	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0147 others(81): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0204 a0001c0001t0001g0242 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0259 a0001c0001t0006g0010 a0001c0001t0007g0032 a0001c0006t0002g0206 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0003c0003t0002g0066 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0073 a0005c0004t0002g0015	94	286	0.3287	-16	c.36 others(27): Show c.3628_*3643delTTTCTTTCTTTCTTTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1923		chr18	TogoVar
GATB_chr4_151665504_151766007	151697953	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	320	0.0031	-16	c.119 others(35): Show c.1197+3360_1197+3375delTATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATC_chr12_120441444_120468749	120441968	ATTATTAT others(9): Show ATTATTATTATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02109.hp1 others(3): Show HG01109.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp2 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0124 a0001c0001t0008g0127 a0001c0001t0008g0016 a0001c0001t0008g0124 a0001c0001t0008g0127	6	408	0.0147	-16	c.-45 others(27): Show c.-4512_-4497delTTATTATTATTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4475		chr12	TogoVar
GATC_chr12_120441444_120468749	120441971	ATTATTAT others(9): Show ATTATTATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02486.hp1 others(3): Show HG02109.hp2 HG02280.hp1 HG02486.hp1 HG03139.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0040 a0001c0001t0008g0126 a0001c0001t0014g0039 others(1): Show a0001c0001t0008g0040 a0001c0001t0008g0126 a0001c0001t0014g0039 a0001c0001t0014g0125	6	408	0.0147	-16	c.-45 others(27): Show c.-4509_-4494delTTATTATTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4472		chr12	TogoVar
GATD1_chr11_762222_782487	763236	CCCCCGCC others(9): Show CCCCCGCCCTCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0013 a0001c0004t0005g0013	1	430	0.0023	-16	c.76 others(27): Show c.7645_*7660delATGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763281	CGCCCCCG others(9): Show CGCCCCCGCCCTCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0016 a0001c0004t0006g0016	1	430	0.0023	-16	c.76 others(27): Show c.7600_*7615delAGGTGAGGGCGGGGGC	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3940		chr11	TogoVar
GATD1_chr11_762222_782487	763283	CCCCCGCC others(9): Show CCCCCGCCCTCACCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG01516.hp2 others(8): Show HG00642.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0006 a0001c0004t0020 others(3): Show a0001c0001t0006 a0001c0004t0006 a0001c0004t0020 a0001c0004t0043 a0001c0004t0044 a0001c0004t0050	a0001c0001t0006g0072 a0001c0004t0006g0016 a0001c0004t0006g0050 others(5): Show a0001c0001t0006g0072 a0001c0004t0006g0016 a0001c0004t0006g0050 a0001c0004t0006g0052 a0001c0004t0020g0038 a0001c0004t0043g0102 a0001c0004t0044g0053 a0001c0004t0050g0051	11	430	0.0256	-16	c.75 others(27): Show c.7598_*7613delACAGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3938		chr11	TogoVar
GBE1_chr3_81484703_81766645	81547625	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02895.hp1 others(7): Show HG01891.hp1 HG02257.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0004t0007 a0001c0001t0002 a0001c0004t0001 a0001c0004t0007	a0001c0001t0002g0195 a0001c0004t0001g0017 a0001c0004t0001g0018 others(7): Show a0001c0001t0002g0195 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0007g0301	10	304	0.0329	-16	c.161 others(37): Show c.1619-10546_1619-10531delGAGAGAGAGAGAGAGA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	12/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81702102	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp2 HG01891.hp2 others(21): Show HG01070.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18747.hp2 NA18957.hp2 NA18979.hp1 NA18983.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0013	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0007c0013 a0013c0009	a0001c0001t0002 a0001c0004t0007 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0004t0007 a0002c0002t0001 a0002c0002t0007 a0007c0013t0006 a0013c0009t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 others(21): Show a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0004t0007g0299 a0002c0002t0001g0004 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0068 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0007g0296 a0002c0002t0007g0304 a0007c0013t0006g0066 a0013c0009t0002g0127	24	304	0.0790	-16	c.313 others(33): Show c.313+3326_313+3341delACACACACACACACAC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81717955	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 NA19030.hp2 others(1): Show HG02622.hp2 HG03195.hp2 NA19030.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0012 a0001c0006 a0003c0012	a0001c0006t0002 a0003c0012t0012 a0001c0006t0002 a0003c0012t0012	a0001c0006t0002g0199 a0001c0006t0002g0200 a0001c0006t0002g0201 others(1): Show a0001c0006t0002g0199 a0001c0006t0002g0200 a0001c0006t0002g0201 a0003c0012t0012g0198	4	304	0.0132	-16	c.144 others(35): Show c.144-12358_144-12343delTAAATAAATAAATAAA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102377383	TCTCTCTG others(9): Show TCTCTCTGTCACCCAGG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18979.hp2 NA19080.hp1 NA18944.hp2 NA18979.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0048 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0048	3	330	0.0091	-16	c.449 others(33): Show c.4494+246_4494+261delCTCTGTCACCCAGGCT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	33/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBGT1_chr9_133147948_133168914	133168349	ACTCTCTC others(9): Show ACTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(54): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18969.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0008 a0026 a0030	a0001c0001 a0002c0002 a0002c0004 others(8): Show a0001c0001 a0002c0002 a0002c0004 a0002c0010 a0004c0008 a0004c0026 a0005c0009 a0007c0013 a0008c0011 a0026c0019 a0030c0016	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0002c0004t0002 a0002c0004t0004 a0002c0010t0002 a0004c0008t0001 a0004c0026t0001 a0005c0009t0003 a0007c0013t0001 a0008c0011t0005 a0026c0019t0007 a0030c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0007g0112 a0002c0002t0002g0006 a0002c0002t0002g0021 a0002c0002t0002g0060 a0002c0002t0002g0128 a0002c0004t0002g0050 a0002c0004t0004g0051 a0002c0010t0002g0145 a0004c0008t0001g0192 a0004c0026t0001g0094 a0005c0009t0003g0164 a0007c0013t0001g0057 a0008c0011t0005g0033 a0008c0011t0005g0059 a0026c0019t0007g0125 a0030c0016t0001g0069	57	446	0.1278	-16	c.-47 others(27): Show c.-4732_-4717delAGAGAGAGAGAGAGAG	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding		4436		chr9	TogoVar
GBP1_chr1_89047319_89070208	89064199	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(81): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0003 a0007 a0008 a0003 a0007 a0008	a0003c0003 a0003c0015 a0007c0009 others(1): Show a0003c0003 a0003c0015 a0007c0009 a0008c0012	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0003c0003t0019 a0003c0015t0003 a0007c0009t0001 a0007c0009t0003 a0008c0012t0003	a0003c0003t0001g0160 a0003c0003t0002g0007 a0003c0003t0002g0161 others(23): Show a0003c0003t0001g0160 a0003c0003t0002g0007 a0003c0003t0002g0161 a0003c0003t0002g0166 a0003c0003t0002g0171 a0003c0003t0003g0002 a0003c0003t0003g0005 a0003c0003t0003g0015 a0003c0003t0003g0029 a0003c0003t0003g0057 a0003c0003t0003g0157 a0003c0003t0003g0158 a0003c0003t0003g0159 a0003c0003t0003g0164 a0003c0003t0003g0167 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0172 a0003c0003t0003g0173 a0003c0003t0008g0055 a0003c0003t0008g0181 a0003c0003t0019g0165 a0003c0015t0003g0168 a0007c0009t0001g0162 a0007c0009t0003g0163 a0008c0012t0003g0056	84	430	0.1954	-16	c.-20 others(31): Show c.-20+945_-19-947delCACACACACACACACA	GBP1	ENSG00000117228.11	transcript	ENST00000370473.5	protein_coding	1/10			chr1	TogoVar
GBP1_chr1_89047319_89070208	89064226	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02735.hp1 NA18993.hp2 others(1): Show HG01261.hp2 HG02735.hp1 NA18993.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0053 a0003c0003t0003g0054	4	430	0.0093	-16	c.-20 others(31): Show c.-20+918_-20+933delTCACACACACACACAC	GBP1	ENSG00000117228.11	transcript	ENST00000370473.5	protein_coding	1/10			chr1	TogoVar
GCC2_chr2_108444206_108514415	108459745	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0020 a0005c0010t0020	a0005c0010t0020g0159 a0005c0010t0020g0159	1	276	0.0036	-16	c.216 others(33): Show c.216+7297_216+7312delTTTTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108479980	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03927.hp1 NA18977.hp2 others(1): Show HG02056.hp2 HG03927.hp1 NA18977.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0021 a0001c0002t0001 a0001c0002t0021	a0001c0002t0001g0042 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show a0001c0002t0001g0042 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0021g0087	4	276	0.0145	-16	c.306 others(35): Show c.3061-1703_3061-1688delAAAAAAAAAAAAAAAA	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCFC2_chr2_75657705_75715915	75674034	AATTATAG others(9): Show AATTATAGTGGGTATGC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0024 a0020c0023t0024	a0020c0023t0024g0269 a0020c0023t0024g0269	1	404	0.0025	-16	c.181 others(33): Show c.1813-530_1813-515delGCATACCCACTATAAT	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	12/16			chr2	TogoVar
GCFC2_chr2_75657705_75715915	75708501	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0005 a0006c0009t0005	a0006c0009t0005g0289 a0006c0009t0005g0289	1	404	0.0025	-16	c.266 others(33): Show c.266-1866_266-1851delAAAAAAAAAAAAAAAA	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	1/16			chr2	TogoVar
GCG_chr2_162137882_162157247	162146538	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG03516.hp2 others(1): Show HG01891.hp1 HG02970.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0088 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0088	4	436	0.0092	-16	c.254 others(31): Show c.254+799_254+814delGAGAGAGAGAGAGAGA	GCG	ENSG00000115263.15	transcript	ENST00000418842.7	protein_coding	3/5			chr2	TogoVar
GCH1_chr14_54837017_54907826	54900845	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp1 HG01891.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0015 a0001c0001t0001g0016	2	346	0.0058	-16	c.343 others(33): Show c.343+1460_343+1475delTGTGTGTGTGTGTGTG	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCKR_chr2_27491839_27528684	27525831	CACACACA others(9): Show CACACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03139.hp2 HG06807.hp1 others(1): Show HG03041.hp2 HG03139.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0002g0042 a0001c0001t0003g0210 others(1): Show a0001c0001t0001g0094 a0001c0001t0002g0042 a0001c0001t0003g0210 a0001c0001t0003g0211	4	324	0.0124	-16	c.23 others(27): Show c.2393_*2408delACACACACACACACAT	GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding		2148		chr2	TogoVar
GCLC_chr6_53492341_53550101	53517249	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(38): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02523.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0025 a0001c0001t0051 a0001c0007t0005	a0001c0001t0001g0262 a0001c0001t0001g0343 a0001c0001t0002g0295 others(34): Show a0001c0001t0001g0262 a0001c0001t0001g0343 a0001c0001t0002g0295 a0001c0001t0004g0091 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0190 a0001c0001t0005g0194 a0001c0001t0005g0202 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0238 a0001c0001t0005g0248 a0001c0001t0005g0309 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0332 a0001c0001t0005g0335 a0001c0001t0005g0381 a0001c0001t0009g0008 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0058 a0001c0001t0025g0170 a0001c0001t0025g0195 a0001c0001t0051g0400 a0001c0007t0005g0158	41	426	0.0962	-16	c.447 others(33): Show c.447-1043_447-1028delAAAAAAAAAAAAAAAA	GCLC	ENSG00000001084.13	transcript	ENST00000650454.1	protein_coding	3/15			chr6	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02056.hp2 HG06807.hp1 others(3): Show HG01433.hp2 HG02056.hp2 HG06807.hp1 NA18906.hp2 NA18945.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0033 a0001c0003t0003 a0001c0004t0018	a0001c0001t0001g0268 a0001c0001t0002g0205 a0001c0001t0005g0364 others(3): Show a0001c0001t0001g0268 a0001c0001t0002g0205 a0001c0001t0005g0364 a0001c0001t0033g0348 a0001c0003t0003g0044 a0001c0004t0018g0273	6	412	0.0146	-16	c.75+ others(31): Show c.75+3542_75+3557delTTTTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM1_chr6_53121961_53153841	53142870	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0329 a0001c0001t0016g0329	1	412	0.0024	-16	c.75+ others(31): Show c.75+2672_75+2687delTTTTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM2_chr6_10868223_10887041	10871865	GATATATA others(9): Show GATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02132.hp1 HG02135.hp2 others(3): Show HG02080.hp2 HG02132.hp1 HG02135.hp2 NA18939.hp2 NA18947.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0137 a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0137	6	426	0.0141	-16	c.21 others(27): Show c.2114_*2129delATATATATATATATAT	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		1357		chr6	TogoVar
GCM2_chr6_10868223_10887041	10881549	CGGGTATG others(9): Show CGGGTATGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	426	0.0024	-16	c.90+ others(29): Show c.90+139_90+154delACACACACACATACCC	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding	1/4			chr6	TogoVar
GCM2_chr6_10868223_10887041	10881551	GGTATGTG others(9): Show GGTATGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG03225.hp2 others(6): Show HG02809.hp2 HG03098.hp2 HG03225.hp2 NA18971.hp1 NA18994.hp1 NA19000.hp2 NA19011.hp1 NA19011.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0018 a0001c0001t0002g0119 a0001c0001t0003g0029 a0001c0001t0002g0018 a0001c0001t0002g0119 a0001c0001t0003g0029	9	426	0.0211	-16	c.90+ others(29): Show c.90+137_90+152delACACACACACACATAC	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding	1/4			chr6	TogoVar
GCM2_chr6_10868223_10887041	10881554	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 NA19054.hp2 HG03195.hp2 NA18522.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0001 a0001c0004t0001 a0002c0003t0001	a0001c0004t0001g0127 a0002c0003t0001g0046 a0001c0004t0001g0127 a0002c0003t0001g0046	3	426	0.0070	-16	c.90+ others(29): Show c.90+134_90+149delCACACACACACACACA	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding	1/4			chr6	TogoVar
GCNA_chrX_71573437_71618583	71589450	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0193 a0003c0003t0001g0193	1	265	0.0038	-16	c.60- others(31): Show c.60-2654_60-2639delTTTTTTTTTTTTTTTT	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
GCNT1_chr9_76454182_76512416	76502169	CTCTCTCT others(9): Show CTCTCTCTCTGTATATA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20129.hp2 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	2	370	0.0054	-16	c.-14 others(31): Show c.-143-68_-143-53delCTCTCTCTGTATATAT	GCNT1	ENSG00000187210.14	transcript	ENST00000376730.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
GCNT2_chr6_10516351_10634368	10563665	CCAGGAGG others(9): Show CCAGGAGGCGGAGCTTG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0321 a0001c0001t0001g0030 a0001c0001t0001g0321	2	324	0.0062	-16	c.925 others(35): Show c.925+33833_925+33848delGAGGCGGAGCTTGCAG	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563769	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	324	0.0031	-16	c.925 others(35): Show c.925+33935_925+33950delAAAAAAAATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563771	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG02622.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0014 a0001c0001t0004g0069 a0001c0001t0001g0014 a0001c0001t0004g0069	2	324	0.0062	-16	c.925 others(35): Show c.925+33937_925+33952delAAAAAATATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563773	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	324	0.0031	-16	c.925 others(35): Show c.925+33939_925+33954delAAAATATATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10585028	AGTCAGTG others(9): Show AGTCAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02451.hp1 others(11): Show HG01884.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02717.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03486.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0027	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0131 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0003g0233 a0001c0001t0003g0238 a0001c0001t0004g0035 a0001c0001t0005g0040 a0001c0001t0008g0219 a0001c0001t0017g0067 a0001c0001t0027g0003	14	324	0.0432	-16	c.926 others(35): Show c.926-36320_926-36305delCAGTGTGTGTGTGTGT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar

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