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
AKT3_chr1_243494724_243855243	243527868	AAAACACA others(5): Show AAAACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	301	0.0033	-12	c.125 others(33): Show c.1252-15454_1252-15443delGTGTGTGTGTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527870	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01071.hp1 others(10): Show HG00099.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01884.hp1 HG02896.hp1 HG02965.hp1 NA18906.hp1 NA18960.hp2 NA18989.hp1 NA19003.hp1 NA19007.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0083 others(10): Show a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0021g0283	13	301	0.0432	-12	c.125 others(33): Show c.1252-15456_1252-15445delGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527926	CACACACA others(5): Show CACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01071.hp2 others(10): Show HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01978.hp2 HG02071.hp1 HG02155.hp1 HG02735.hp2 HG02886.hp2 HG03209.hp1 HG03831.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0040 a0001c0001t0001g0102 a0001c0001t0001g0122 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0002g0229 a0001c0001t0004g0024 a0001c0001t0011g0235 a0001c0001t0012g0012 a0001c0001t0020g0293	13	301	0.0432	-12	c.125 others(33): Show c.1252-15512_1252-15501delCTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527928	CACACACA others(5): Show CACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	301	0.0033	-12	c.125 others(33): Show c.1252-15514_1252-15503delCTCTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527932	CACACAGA others(5): Show CACACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	301	0.0033	-12	c.125 others(33): Show c.1252-15518_1252-15507delCTCTCTCTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243550958	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	301	0.0033	-12	c.116 others(31): Show c.1163+1759_1163+1770delTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	11/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243583545	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18984.hp1 HG02273.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0231 a0001c0001t0001g0244	2	301	0.0066	-12	c.697 others(31): Show c.697-10509_697-10498delCTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	8/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243625124	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	301	0.0033	-12	c.562 others(29): Show c.562-9975_562-9964delAAAAAAAAAAAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	6/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243626620	TAGGTACA others(5): Show TAGGTACAATAGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0005 a0001c0001t0023g0005	1	301	0.0033	-12	c.561 others(31): Show c.561+10979_561+10990delTCTATTGTACCT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	6/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243664185	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0276 a0001c0001t0003g0277	2	301	0.0066	-12	c.284 others(27): Show c.284+575_284+586delAAAAAAAAAAAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	4/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693242	TGATATAT others(5): Show TGATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01123.hp1 others(25): Show HG00099.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp2 HG01256.hp1 HG01433.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18944.hp1 NA18947.hp1 NA18990.hp1 NA19011.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0040 a0001c0001t0043	a0001c0001t0001g0070 a0001c0001t0001g0181 a0001c0001t0001g0207 others(25): Show a0001c0001t0001g0070 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0257 a0001c0001t0002g0036 a0001c0001t0002g0081 a0001c0001t0002g0156 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0079 a0001c0001t0003g0204 a0001c0001t0007g0059 a0001c0001t0007g0190 a0001c0001t0008g0072 a0001c0001t0011g0180 a0001c0001t0012g0012 a0001c0001t0017g0043 a0001c0001t0017g0166 a0001c0001t0024g0018 a0001c0001t0027g0186 a0001c0001t0040g0185 a0001c0001t0043g0068	28	301	0.0930	-12	c.172 others(29): Show c.172+2337_172+2348delTATATATATATC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693243	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	301	0.0033	-12	c.172 others(29): Show c.172+2336_172+2347delATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18944.hp1 HG02622.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0070 a0001c0001t0005g0291 a0001c0001t0001g0070 a0001c0001t0005g0291	2	301	0.0066	-12	c.47- others(27): Show c.47-3761_47-3750delTATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243713746	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	301	0.0033	-12	c.47- others(29): Show c.47-18042_47-18031delTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243750408	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	301	0.0033	-12	c.47- others(29): Show c.47-54704_47-54693delGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243795464	TTTTTTTT others(5): Show TTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG02809.hp2 HG01167.hp1 HG01175.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0143 a0001c0001t0001g0251 a0001c0001t0007g0266 a0001c0001t0001g0143 a0001c0001t0001g0251 a0001c0001t0007g0266	3	301	0.0100	-12	c.46+ others(29): Show c.46+47649_46+47660delCCAAAAAAAAAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243803644	GTACACAC others(5): Show GTACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0152 a0001c0001t0030g0152	1	301	0.0033	-12	c.46+ others(29): Show c.46+39469_46+39480delTGTGTGTGTGTA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243803645	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01261.hp1 others(7): Show HG00738.hp2 HG01070.hp1 HG01261.hp1 HG01884.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 others(1): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021	a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0294 others(7): Show a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0299 a0001c0001t0019g0268 a0001c0001t0019g0269 a0001c0001t0020g0286 a0001c0001t0020g0293 a0001c0001t0021g0287	10	301	0.0332	-12	c.46+ others(29): Show c.46+39468_46+39479delGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243853217	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00621.hp2 others(81): Show HG00280.hp1 HG00423.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0025 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(81): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0153 a0001c0001t0002g0229 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0006g0161 a0001c0001t0006g0167 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0282 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0271 a0001c0001t0007g0273 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0019g0269 a0001c0001t0025g0010 a0001c0001t0033g0145 a0001c0001t0036g0029 a0001c0001t0039g0270	84	301	0.2791	-12	c.-33 others(23): Show c.-3302_-3291delAAAAAAAAAAAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding		2975		chr1	TogoVar
ALAS1_chr3_52193160_52219327	52193983	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG00673.hp1 others(44): Show HG00544.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02818.hp2 HG02896.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA19010.hp1 NA19011.hp1 NA19074.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0019 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0012t0001g0008 a0002c0004t0001g0016	47	354	0.1328	-12	c.-44 others(23): Show c.-4481_-4470delAAAGAAAGAAAG	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4176		chr3	TogoVar
ALAS1_chr3_52193160_52219327	52194047	GAAAGAAA others(5): Show GAAAGAAAGAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	354	0.0057	-12	c.-44 others(23): Show c.-4417_-4406delAAAGAAAGAAAA	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4112		chr3	TogoVar
ALAS2_chrX_55004055_55035977	55015959	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02040.hp1 HG02145.hp1 others(15): Show HG01243.hp1 HG02040.hp1 HG02145.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0002g0146 a0001c0003t0002g0047	18	284	0.0634	-12	c.100 others(29): Show c.1004-229_1004-218delCACACACACACA	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	7/10			chrX	TogoVar
ALB_chr4_73399287_73426482	73417767	GTGTGTGC others(5): Show GTGTGTGCATGTT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02148.hp1 HG02300.hp1 HG00733.hp2 HG02148.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	3	392	0.0077	-12	c.142 others(29): Show c.1428+110_1428+121delTTGTGTGCATGT	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALCAM_chr3_105361909_105581900	105389371	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0359 a0001c0003t0001g0359	1	378	0.0027	-12	c.73+ others(29): Show c.73+21906_73+21917delTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105405277	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp1 others(5): Show HG01070.hp2 HG01071.hp1 HG01081.hp1 HG02486.hp1 HG02896.hp2 HG03486.hp2 NA19030.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0367 a0001c0002t0003g0005 a0001c0002t0003g0320 others(4): Show a0001c0001t0001g0367 a0001c0002t0003g0005 a0001c0002t0003g0320 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0371 a0001c0002t0003g0372	8	378	0.0212	-12	c.73+ others(29): Show c.73+37812_73+37823delAAAAAAAAAAAA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105454653	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG02258.hp1 others(5): Show HG01081.hp1 HG01106.hp1 HG02258.hp1 HG02486.hp1 HG02895.hp2 HG03139.hp2 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 a0001c0011t0010	a0001c0001t0001g0373 a0001c0002t0003g0320 a0001c0002t0003g0334 others(5): Show a0001c0001t0001g0373 a0001c0002t0003g0320 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0340 a0001c0003t0001g0359 a0001c0011t0010g0345 a0001c0011t0010g0354	8	378	0.0212	-12	c.74- others(29): Show c.74-65391_74-65380delTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105523139	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0369 a0001c0002t0003g0369	1	378	0.0027	-12	c.175 others(29): Show c.175-1134_175-1123delAAAAAAAAAAAA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH18A1_chr10_95600941_95661711	95648320	TTCATCAT others(5): Show TTCATCATCATCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(48): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp1 HG02738.hp2 HG02976.hp2 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG04115.hp1 NA18522.hp1 NA18951.hp1 NA18953.hp2 NA18979.hp1 NA19003.hp1 NA19057.hp2 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0007t0002	a0001c0001t0001g0133 a0001c0001t0002g0009 a0001c0001t0002g0010 others(34): Show a0001c0001t0001g0133 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0010g0228 a0001c0007t0002g0221	51	372	0.1371	-12	c.88+ others(27): Show c.88+4958_88+4969delTGATGATGATGA	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	2/17			chr10	TogoVar
ALDH18A1_chr10_95600941_95661711	95655128	TTTATTAT others(5): Show TTTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01258.hp2 others(3): Show HG00099.hp1 HG00733.hp1 HG01258.hp2 HG02055.hp2 HG04184.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0066 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068	6	372	0.0161	-12	c.-29 others(29): Show c.-29+1457_-29+1468delTAATAATAATAA	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	1/17			chr10	TogoVar
ALDH1A1_chr9_72895671_72958053	72908506	CGAAAGAA others(5): Show CGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	306	0.0033	-12	c.135 others(31): Show c.1358+1084_1358+1095delTTTCTTTCTTTC	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72908540	AAAGAAAA others(5): Show AAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02818.hp1 HG03098.hp1 HG02056.hp2 HG02818.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0002g0166 a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0002g0166	3	306	0.0098	-12	c.135 others(31): Show c.1358+1050_1358+1061delCTTTCTTTTCTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72908552	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01496.hp1 others(9): Show HG00738.hp1 HG01123.hp1 HG01496.hp1 HG02071.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG03669.hp2 NA18960.hp1 NA18993.hp2 NA18999.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0003c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0122 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0002t0001g0076 a0001c0002t0001g0258 a0001c0002t0001g0264 a0001c0002t0004g0217 a0003c0004t0001g0282	12	306	0.0392	-12	c.135 others(31): Show c.1358+1038_1358+1049delTCTTTCTTTCTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A2_chr15_57948429_58070711	57981317	CACACACA others(5): Show CACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02809.hp1 others(3): Show HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp2 HG03209.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0074 a0002c0002t0003g0313 a0002c0002t0003g0314 others(3): Show a0002c0002t0003g0074 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0006g0143 a0002c0002t0006g0144	6	326	0.0184	-12	c.798 others(31): Show c.798+11376_798+11387delCTGTGTGTGTGT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57986571	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0273 a0001c0001t0024g0273	1	326	0.0031	-12	c.798 others(29): Show c.798+6122_798+6133delTTTTTTTTTTTT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57995225	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0005	1	326	0.0031	-12	c.494 others(25): Show c.494-98_494-87delGTTTTTTTTTTT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	4/12			chr15	TogoVar
ALDH1L1_chr3_126098570_126185586	126098624	GGCTTGAC others(5): Show GGCTTGACTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA19240.hp1 HG02280.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0176 a0003c0003t0001g0049 a0003c0003t0001g0176	2	338	0.0059	-12	c.51 others(23): Show c.5155_*5166delTCACAGTCAAGC	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding		4945		chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105036514	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02523.hp1 HG00140.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0355 a0001c0001t0001g0195 a0001c0001t0001g0355	2	386	0.0052	-12	c.214 others(31): Show c.2145+1577_2145+1588delTATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105038267	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0333 a0001c0002t0005g0333	1	386	0.0026	-12	c.204 others(27): Show c.2046-77_2046-66delTTGTGTGTGTGT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	17/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105038279	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02258.hp1 others(1): Show HG01243.hp2 HG01891.hp2 HG02258.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0360 a0001c0001t0004g0046 a0001c0001t0004g0109 others(1): Show a0001c0001t0001g0360 a0001c0001t0004g0046 a0001c0001t0004g0109 a0001c0001t0015g0368	4	386	0.0104	-12	c.204 others(27): Show c.2046-89_2046-78delGTGTGTGTGTGT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	17/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046149	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02896.hp2 HG03540.hp1 HG01952.hp1 HG02896.hp2 HG03540.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0017 a0010c0018t0028 a0001c0001t0017 a0010c0018t0028	a0001c0001t0017g0018 a0001c0001t0017g0076 a0010c0018t0028g0075 a0001c0001t0017g0018 a0001c0001t0017g0076 a0010c0018t0028g0075	3	386	0.0078	-12	c.186 others(29): Show c.1863+549_1863+560delGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046185	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0231 a0006c0009t0001g0232 a0006c0009t0001g0231 a0006c0009t0001g0232	2	386	0.0052	-12	c.186 others(29): Show c.1863+513_1863+524delTATAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046215	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	386	0.0026	-12	c.186 others(29): Show c.1863+483_1863+494delAAAAAATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105059267	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01243.hp1 others(51): Show HG00408.hp2 HG00423.hp1 HG01243.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19078.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0026 a0001c0001t0030 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0010t0007 a0003c0005t0003	a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0001t0001g0211 others(50): Show a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0001t0001g0211 a0001c0001t0001g0358 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0316 a0001c0001t0004g0046 a0001c0001t0004g0261 a0001c0001t0004g0319 a0001c0001t0004g0322 a0001c0001t0004g0328 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0011g0111 a0001c0001t0011g0332 a0001c0001t0020g0144 a0001c0001t0026g0359 a0001c0001t0030g0103 a0001c0002t0002g0118 a0001c0002t0002g0130 a0001c0002t0007g0001 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0055 a0001c0002t0007g0065 a0001c0002t0007g0066 a0001c0002t0007g0067 a0001c0002t0009g0048 a0001c0002t0009g0056 a0001c0002t0009g0058 a0001c0002t0009g0060 a0001c0002t0009g0061 a0001c0010t0007g0047 a0001c0010t0007g0049 a0003c0005t0003g0096 a0003c0005t0003g0136	54	386	0.1399	-12	c.114 others(31): Show c.1140-1059_1140-1048delATTATTATTATT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	9/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105064114	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02148.hp2 HG02630.hp2 others(2): Show HG01891.hp1 HG02148.hp2 HG02630.hp2 HG02738.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0010	a0001c0001t0003g0203 a0001c0001t0011g0069 a0001c0001t0013g0369 others(2): Show a0001c0001t0003g0203 a0001c0001t0011g0069 a0001c0001t0013g0369 a0001c0002t0002g0151 a0001c0002t0010g0073	5	386	0.0130	-12	c.787 others(29): Show c.787-1104_787-1093delAAAAAAAAAAAA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	6/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071614	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	386	0.0026	-12	c.194 others(27): Show c.194-822_194-811delTATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH2_chr12_111761933_111822532	111764788	CTTTTTTT others(5): Show CTTTTTTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18969.hp2 HG02027.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0002 a0001c0001t0031g0086 a0001c0001t0003g0002 a0001c0001t0031g0086	2	342	0.0059	-12	c.-21 others(23): Show c.-2194_-2183delTTTTTTTTTTCT	ALDH2	ENSG00000111275.13	transcript	ENST00000261733.7	protein_coding		2144		chr12	TogoVar
ALDH2_chr12_111761933_111822532	111764982	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG01993.hp1 others(16): Show HG00544.hp1 HG01884.hp2 HG01993.hp1 HG02135.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG03239.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp2 NA19011.hp1 NA19054.hp2 NA19065.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(11): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0054 a0001c0001t0067 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0002c0002t0001 a0003c0003t0005 a0003c0003t0062	a0001c0001t0005g0021 a0001c0001t0005g0106 a0001c0001t0005g0111 others(16): Show a0001c0001t0005g0021 a0001c0001t0005g0106 a0001c0001t0005g0111 a0001c0001t0005g0116 a0001c0001t0005g0216 a0001c0001t0010g0001 a0001c0001t0014g0180 a0001c0001t0018g0104 a0001c0001t0018g0124 a0001c0001t0021g0002 a0001c0001t0054g0235 a0001c0001t0067g0168 a0001c0001t0078g0140 a0001c0001t0079g0113 a0001c0001t0080g0112 a0001c0001t0081g0120 a0002c0002t0001g0115 a0003c0003t0005g0094 a0003c0003t0062g0118	19	342	0.0556	-12	c.-20 others(23): Show c.-2000_-1989delTGTGTGTGTGTG	ALDH2	ENSG00000111275.13	transcript	ENST00000261733.7	protein_coding		1950		chr12	TogoVar
ALDH2_chr12_111761933_111822532	111818888	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00609.hp2 others(71): Show HG00597.hp2 HG00609.hp1 HG00609.hp2 HG01099.hp1 HG01167.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0005 a0001c0001 a0001c0009 a0005c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(29): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0075 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0009t0103 a0005c0005t0066	a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0049 others(60): Show a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0008g0017 a0001c0001t0008g0043 a0001c0001t0008g0063 a0001c0001t0008g0065 a0001c0001t0008g0075 a0001c0001t0008g0091 a0001c0001t0008g0093 a0001c0001t0012g0008 a0001c0001t0012g0033 a0001c0001t0012g0034 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0013g0016 a0001c0001t0013g0058 a0001c0001t0013g0060 a0001c0001t0013g0064 a0001c0001t0013g0090 a0001c0001t0021g0002 a0001c0001t0021g0233 a0001c0001t0022g0002 a0001c0001t0022g0010 a0001c0001t0031g0067 a0001c0001t0031g0086 a0001c0001t0032g0002 a0001c0001t0032g0138 a0001c0001t0075g0071 a0001c0001t0084g0027 a0001c0001t0085g0092 a0001c0001t0086g0052 a0001c0001t0087g0048 a0001c0001t0088g0002 a0001c0001t0090g0170 a0001c0001t0091g0027 a0001c0001t0092g0050 a0001c0001t0097g0084 a0001c0001t0098g0008 a0001c0001t0099g0078 a0001c0001t0100g0047 a0001c0001t0102g0123 a0001c0001t0104g0010 a0001c0001t0105g0068 a0001c0001t0106g0002 a0001c0001t0108g0076 a0001c0001t0109g0127 a0001c0001t0110g0080 a0001c0001t0111g0059 a0001c0001t0113g0002 a0001c0009t0103g0232 a0005c0005t0066g0097	74	342	0.2164	-12	c.93 others(23): Show c.9314_*9325delTTTTTTTTTTTT	ALDH2	ENSG00000111275.13	transcript	ENST00000261733.7	protein_coding		1357		chr12	TogoVar
ALDH3A1_chr17_19732989_19753298	19746632	TGTGTGCG others(5): Show TGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	424	0.0024	-12	c.-5- others(27): Show c.-5-1510_-5-1499delGCACACGCACAC	ALDH3A1	ENSG00000108602.18	transcript	ENST00000225740.11	protein_coding	1/10			chr17	TogoVar
ALDH3A1_chr17_19732989_19753298	19746644	CGTGTGTG others(5): Show CGTGTGTGTGCAT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0103 a0002c0004t0003g0103	1	424	0.0024	-12	c.-5- others(27): Show c.-5-1522_-5-1511delATGCACACACAC	ALDH3A1	ENSG00000108602.18	transcript	ENST00000225740.11	protein_coding	1/10			chr17	TogoVar

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