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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Select column to sort.

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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	status	chr	external
AACS_chr12_125060435_125148316	125113693	A A	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp2 HG03579.hp1 others(1): Show HG02922.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	4	364	0.0110	0	c.916 others(7): Show c.916-784A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125113741	C C	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	364	0.0028	0	c.916 others(7): Show c.916-736C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125113843	C C	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG02055.hp2 others(14): Show HG00733.hp2 HG01243.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0005c0014 others(1): Show a0001c0001 a0002c0002 a0005c0014 a0009c0024	a0001c0001t0001 a0002c0002t0001 a0005c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0014t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0002c0002t0001g0004 a0002c0002t0001g0264 a0005c0014t0001g0339 a0009c0024t0001g0263	17	364	0.0467	0	c.916 others(7): Show c.916-634C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125113910	C C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158	11	364	0.0302	0	c.916 others(7): Show c.916-567C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125113992	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0339 a0005c0014t0001g0339	1	364	0.0028	0	c.916 others(7): Show c.916-485C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114058	G G	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(131): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0008 others(13): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0025 a0003c0019 a0005c0014 a0006c0013 a0007c0016 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0008t0002 a0001c0009t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0025t0001 a0003c0019t0001 a0005c0014t0001 a0006c0013t0001 a0007c0016t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(128): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0251 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0006g0092 a0001c0001t0010g0194 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0002t0001g0075 a0002c0002t0001g0264 a0002c0002t0002g0359 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0025t0001g0255 a0003c0019t0001g0184 a0005c0014t0001g0339 a0006c0013t0001g0350 a0007c0016t0001g0032 a0009c0024t0001g0263	134	364	0.3681	0	c.916 others(7): Show c.916-419G>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114068	G G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0340 a0002c0005t0001g0015 a0002c0005t0001g0020 others(4): Show a0001c0001t0001g0340 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025	7	364	0.0192	0	c.916 others(7): Show c.916-409G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114185	G G	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	364	0.0028	0	c.916 others(7): Show c.916-292G>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114266	C C	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	364	0.0028	0	c.916 others(7): Show c.916-211C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114291	A A	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	364	0.0028	0	c.916 others(7): Show c.916-186A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114382	C C	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	364	0.0028	0	c.916 others(6): Show c.916-95C>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114402	G G	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	364	0.0028	0	c.916 others(6): Show c.916-75G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114574	G G	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0026 a0002c0021t0001g0026	1	364	0.0028	0	c.996 others(6): Show c.996+17G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114588	T T	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG02055.hp2 others(14): Show HG00733.hp2 HG01243.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0005c0014 others(1): Show a0001c0001 a0002c0002 a0005c0014 a0009c0024	a0001c0001t0001 a0002c0002t0001 a0005c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0014t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0002c0002t0001g0004 a0002c0002t0001g0264 a0005c0014t0001g0339 a0009c0024t0001g0263	17	364	0.0467	0	c.996 others(6): Show c.996+31T>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114594	A A	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	364	0.0028	0	c.996 others(6): Show c.996+37A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114639	A A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00733.hp2 others(29): Show HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0005t0001 a0002c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(28): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0340 a0001c0001t0006g0092 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0017 a0002c0007t0001g0027	32	364	0.0879	0	c.996 others(6): Show c.996+82A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114654	G G	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03209.hp2 HG03688.hp2 HG02683.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0187 a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0187	3	364	0.0082	0	c.996 others(6): Show c.996+97G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114662	GCACATGG others(68): Show GCACATGGTAAGGGCTTCCCCAGGTGCTGGCCTGTGCTATACCACAATAG GGGCTTCCCTGGGTGCCAGCCCATGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(85): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG03209.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0017 others(4): Show a0001c0001 a0001c0008 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0008t0002 a0001c0017t0002 a0001c0020t0002 a0002c0002t0002 a0002c0006t0001 a0003c0019t0001	a0001c0001t0001g0039 a0001c0001t0001g0161 a0001c0001t0001g0169 others(84): Show a0001c0001t0001g0039 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0010g0194 a0001c0008t0002g0238 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0003c0019t0001g0184	88	364	0.2418	-75	c.996 others(90): Show c.996+129_996+203delTGCTGGCCTGTGCTATACCACAATAGGGGC TTCCCTGGGTGCCAGCCCATGACACATGGTAAGGGCTTCCCCAGG	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125114685	G G	GTGCTGGC others(104): Show GTGCTGGCCTGTGCTATACCACAATAGGGGCTTCCCTGGGTGCCAGCCCA TGACACATGGTAAGGGCTTCCCCAGGCGCCGGCCCGTGGCACATGTTAAG GGCTTCCCCAGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	364	0.0028	111	c.996 others(126): Show c.996+238_996+239insTTGCTGGCCTGTGCTATACCACAATAGGGG CTTCCCTGGGTGCCAGCCCATGACACATGGTAAGGGCTTCCCCAGGCGCC GGCCCGTGGCACATGTTAAGGGCTTCCCCAG	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125114765	G G	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	364	0.0028	0	c.996 others(7): Show c.996+208G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114794	A A	AGGCGCCG others(29): Show AGGCGCCGGCCCGTGGCACATGGTAAGGGCTTCCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 NA18522.hp1 HG02145.hp1 HG03098.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009	3	364	0.0082	36	c.996 others(51): Show c.996+315_996+350dupCGGCCCGTGGCACATGGTAAGGGCTTCCCC GGGCGC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125114794	AGGCGCCG others(29): Show AGGCGCCGGCCCGTGGCACATGGTAAGGGCTTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19043.hp2 HG01099.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0109 a0002c0002t0001g0075 a0001c0001t0001g0109 a0002c0002t0001g0075	2	364	0.0055	-36	c.996 others(51): Show c.996+315_996+350delCGGCCCGTGGCACATGGTAAGGGCTTCCCC GGGCGC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125114809	G G	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	364	0.0028	0	c.996 others(7): Show c.996+252G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114866	G G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00733.hp2 others(15): Show HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 a0001c0001t0001 a0002c0005t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0091 a0001c0001t0001g0093 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0340 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0017 a0002c0007t0001g0027	18	364	0.0495	0	c.996 others(7): Show c.996+309G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114877	C C	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0007t0001g0017 a0002c0007t0001g0027	6	364	0.0165	0	c.996 others(7): Show c.996+320C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114881	GCACATGG others(29): Show GCACATGGTAAGGGCTTCCCCGGGCGCTGGCCCGTGA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	364	0.0028	-36	c.996 others(51): Show c.996+351_996+386delTGGCCCGTGACACATGGTAAGGGCTTCCCC GGGCGC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125114941	C C	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	364	0.0028	0	c.996 others(7): Show c.996+384C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125114963	G G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	364	0.0028	0	c.996 others(7): Show c.996+406G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115016	A A	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0010 a0001c0015 a0002c0010	a0001c0015t0001 a0002c0010t0001 a0001c0015t0001 a0002c0010t0001	a0001c0015t0001g0070 a0002c0010t0001g0018 a0001c0015t0001g0070 a0002c0010t0001g0018	2	364	0.0055	0	c.996 others(7): Show c.996+459A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115029	G G	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(4): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 NA19240.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0009 a0006c0013 others(1): Show a0001c0001 a0001c0009 a0006c0013 a0007c0016	a0001c0001t0001 a0001c0009t0001 a0006c0013t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0006c0013t0001 a0007c0016t0001	a0001c0001t0001g0077 a0001c0001t0001g0356 a0001c0001t0001g0357 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0009t0001g0348 a0001c0009t0001g0349 a0006c0013t0001g0350 a0007c0016t0001g0032	7	364	0.0192	0	c.996 others(7): Show c.996+472G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115043	C C	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp2 HG02735.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0259 a0001c0001t0001g0260	2	364	0.0055	0	c.996 others(7): Show c.996+486C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115247	G G	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0014 a0002c0011t0001g0014	1	364	0.0028	0	c.996 others(7): Show c.996+690G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115260	G G	GT GT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01192.hp1 others(29): Show HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01433.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02895.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18979.hp2 NA18988.hp1 NA19030.hp1 NA19067.hp1 NA19078.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0002c0002t0001 a0002c0002t0007 a0002c0005t0001 a0002c0025t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0029 others(29): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0291 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0002g0037 a0001c0001t0002g0073 a0001c0001t0002g0171 a0001c0001t0002g0185 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0002g0298 a0001c0001t0003g0044 a0001c0001t0003g0320 a0001c0001t0006g0336 a0001c0001t0008g0208 a0001c0003t0001g0221 a0001c0003t0001g0256 a0001c0003t0004g0083 a0001c0004t0001g0213 a0002c0002t0001g0009 a0002c0002t0001g0095 a0002c0002t0001g0111 a0002c0002t0001g0144 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0007g0279 a0002c0005t0001g0022 a0002c0025t0001g0255	32	364	0.0879	1	c.996 others(8): Show c.996+721dupT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125115260	GT GT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02922.hp2 HG03471.hp1 others(7): Show HG01168.hp2 HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18953.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0162 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0295 a0001c0001t0001g0325 a0001c0001t0001g0343 a0002c0007t0001g0017 a0002c0007t0001g0027	10	364	0.0275	-1	c.996 others(8): Show c.996+721delT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125115301	C C	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0010 a0001c0015 a0002c0010	a0001c0015t0001 a0002c0010t0001 a0001c0015t0001 a0002c0010t0001	a0001c0015t0001g0070 a0002c0010t0001g0018 a0001c0015t0001g0070 a0002c0010t0001g0018	2	364	0.0055	0	c.996 others(7): Show c.996+744C>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115682	C C	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	364	0.0028	0	c.996 others(8): Show c.996+1125C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115685	C C	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158	11	364	0.0302	0	c.996 others(8): Show c.996+1128C>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115784	G G	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG06807.hp2 HG02922.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	3	364	0.0082	0	c.996 others(8): Show c.996+1227G>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115898	C C	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	364	0.0028	0	c.996 others(8): Show c.996+1341C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115976	C C	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0186	1	364	0.0028	0	c.996 others(8): Show c.996+1419C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125115998	T T	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	364	0.0028	0	c.996 others(8): Show c.996+1441T>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116017	AT AT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0007t0001g0017 a0002c0007t0001g0027	6	364	0.0165	-1	c.996 others(9): Show c.996+1462delT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17	INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125116033	A A	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG03471.hp1 others(4): Show HG02486.hp1 HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0162 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0007t0001g0017 a0002c0007t0001g0027	7	364	0.0192	0	c.996 others(8): Show c.996+1476A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116159	T T	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0007t0001g0017 a0002c0007t0001g0027	6	364	0.0165	0	c.996 others(8): Show c.996+1602T>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116178	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01515.hp2 others(17): Show HG01243.hp1 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02647.hp2 HG03098.hp1 HG03098.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0097 a0001c0001t0001g0257 a0001c0001t0005g0105 others(17): Show a0001c0001t0001g0097 a0001c0001t0001g0257 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0011g0108 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0007t0001g0016	20	364	0.0550	0	c.996 others(8): Show c.996+1621G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116390	C C	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0194 a0001c0001t0010g0194	1	364	0.0028	0	c.996 others(8): Show c.996+1833C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116431	G G	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19078.hp2 NA18957.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0002 a0001c0001t0002 a0001c0017t0002	a0001c0001t0002g0252 a0001c0017t0002g0204 a0001c0001t0002g0252 a0001c0017t0002g0204	2	364	0.0055	0	c.996 others(8): Show c.996+1874G>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116493	T T	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18975.hp1 HG02165.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0082 a0001c0001t0002g0071 a0001c0001t0002g0082	2	364	0.0055	0	c.996 others(8): Show c.996+1936T>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116530	T T	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(138): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0008 others(15): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0025 a0003c0019 a0005c0014 a0006c0013 a0007c0016 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0008t0002 a0001c0009t0001 a0001c0015t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0025t0001 a0003c0019t0001 a0005c0014t0001 a0006c0013t0001 a0007c0016t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(135): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0006g0092 a0001c0001t0010g0194 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0015t0001g0070 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0002t0001g0075 a0002c0002t0001g0264 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0025t0001g0255 a0003c0019t0001g0184 a0005c0014t0001g0339 a0006c0013t0001g0350 a0007c0016t0001g0032 a0009c0024t0001g0263	141	364	0.3874	0	c.996 others(8): Show c.996+1973T>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar
AACS_chr12_125060435_125148316	125116620	C C	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	364	0.0028	0	c.997 others(8): Show c.997-2021C>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		chr12	TogoVar

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