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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AACS_chr12_125060435_125148316	125127177	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	c.131 others(8): Show c.1310-984C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127223	G G	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0355 a0001c0003t0001g0355	1	364	0.0028	c.131 others(8): Show c.1310-938G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127276	A A	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	364	0.0028	c.131 others(8): Show c.1310-885A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127341	G G	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG06807.hp1 HG02280.hp1 HG03471.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	3	364	0.0082	c.131 others(8): Show c.1310-820G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127551	T T	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG03471.hp1 others(1): Show HG02280.hp1 HG02486.hp1 HG03471.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0079 a0002c0007t0001g0016 a0002c0007t0001g0017 others(1): Show a0001c0001t0001g0079 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	4	364	0.0110	c.131 others(8): Show c.1310-610T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127952	A A	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0214	1	364	0.0028	c.131 others(8): Show c.1310-209A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128054	A A	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(9): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG03098.hp1 HG03098.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0257 a0002c0002t0001g0006 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271	12	364	0.0330	c.131 others(8): Show c.1310-107A>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128071	T T	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0249 a0001c0004t0004g0249	1	364	0.0028	c.131 others(7): Show c.1310-90T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128124	T T	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	364	0.0028	c.131 others(7): Show c.1310-37T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128174	C C	T T	synonymous_variant synonymous_variant	LOW	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0204 a0001c0017t0002g0204	1	364	0.0028	c.132 others(4): Show c.1323C>T	p.Ile others(6): Show p.Ile441Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/18	1473/3256	1323/2019	441/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125128260	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0032 a0007c0016t0001g0032	1	364	0.0028	c.140 others(4): Show c.1409C>T	p.Ala others(6): Show p.Ala470Val	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/18	1559/3256	1409/2019	470/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125128293	G G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(117): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00733.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 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.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 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0011 a0002c0021 a0003c0019 a0006c0013 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0008t0002 a0001c0009t0001 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0002c0002t0002 a0002c0011t0001 a0002c0021t0001 a0003c0019t0001 a0006c0013t0001 a0007c0016t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(116): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 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 a0001c0001t0010g0194 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0012t0004g0244 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0011t0001g0014 a0002c0021t0001g0026 a0003c0019t0001g0184 a0006c0013t0001g0350 a0007c0016t0001g0032	120	364	0.3297	c.142 others(7): Show c.1423+19G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128344	G G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01975.hp1 others(24): Show HG00544.hp2 HG00597.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG04184.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0002c0011 a0002c0021	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026	27	364	0.0742	c.142 others(7): Show c.1423+70G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128380	T T	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	364	0.0028	c.142 others(8): Show c.1423+106T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128446	C C	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01975.hp1 others(24): Show HG00544.hp2 HG00597.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG04184.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0002c0011 a0002c0021	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026	27	364	0.0742	c.142 others(8): Show c.1423+172C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128525	G G	A A	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	c.142 others(8): Show c.1423+251G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128604	A A	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01361.hp1 others(16): Show HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0002c0010 a0002c0025	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0010t0001 a0002c0025t0001	a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0001c0015t0001g0070 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0010t0001g0018 a0002c0025t0001g0255	19	364	0.0522	c.142 others(8): Show c.1423+330A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128612	A A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02559.hp2 others(13): Show 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(11): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0004 a0002c0002t0001g0264 a0005c0014t0001g0339 a0009c0024t0001g0263	16	364	0.0440	c.142 others(8): Show c.1423+338A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128693	C C	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	364	0.0028	c.142 others(8): Show c.1423+419C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128745	C C	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	364	0.0028	c.142 others(8): Show c.1423+471C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128883	C C	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0032 a0007c0016t0001g0032	1	364	0.0028	c.142 others(8): Show c.1424-452C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128953	C C	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG02071.hp1 others(17): Show HG00597.hp1 HG00621.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02451.hp1 HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18971.hp1 NA18986.hp1 NA19011.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0026 a0001c0003 a0002c0026	a0001c0003t0001 a0001c0003t0009 a0002c0026t0001 a0001c0003t0001 a0001c0003t0009 a0002c0026t0001	a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 others(17): Show a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0009g0189 a0002c0026t0001g0145	20	364	0.0550	c.142 others(8): Show c.1424-382C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129009	A A	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp2 HG03492.hp1 others(1): Show HG03239.hp1 HG03490.hp2 HG03492.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	4	364	0.0110	c.142 others(8): Show c.1424-326A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129144	G G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	364	0.0028	c.142 others(8): Show c.1424-191G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129174	T T	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	364	0.0028	c.142 others(8): Show c.1424-161T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129202	C C	T T	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	c.142 others(8): Show c.1424-133C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129208	C C	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	364	0.0028	c.142 others(8): Show c.1424-127C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129261	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	c.142 others(7): Show c.1424-74A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129579	C C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(29): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18971.hp1 NA18986.hp1 NA19011.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0002c0026	a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 a0002c0005t0001 a0002c0026t0001	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(29): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0340 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0009g0189 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0145	32	364	0.0879	c.154 others(8): Show c.1549+119C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129657	G G	A A	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	c.154 others(8): Show c.1549+197G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129813	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	c.154 others(8): Show c.1549+353C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129846	G G	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	364	0.0028	c.154 others(8): Show c.1549+386G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129915	C C	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp2 HG02683.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0187 a0001c0001t0002g0057 a0001c0001t0002g0187	2	364	0.0055	c.154 others(8): Show c.1549+455C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130068	C C	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0339 a0005c0014t0001g0339	1	364	0.0028	c.154 others(8): Show c.1549+608C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130068	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(13): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271	16	364	0.0440	c.154 others(8): Show c.1549+608C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130250	G G	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	c.154 others(8): Show c.1549+790G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130477	G G	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	c.154 others(9): Show c.1549+1017G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130555	T T	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	364	0.0028	c.154 others(9): Show c.1549+1095T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130668	T T	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18979.hp2 NA18954.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0202 a0001c0001t0002g0185 a0001c0001t0002g0202	2	364	0.0055	c.154 others(9): Show c.1549+1208T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130698	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp1 others(7): Show HG00099.hp1 HG00140.hp1 HG00639.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp1 HG02698.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0002c0002t0006 a0001c0001t0005 a0001c0001t0006 a0002c0002t0006	a0001c0001t0005g0063 a0001c0001t0006g0064 a0001c0001t0006g0076 others(7): Show a0001c0001t0005g0063 a0001c0001t0006g0064 a0001c0001t0006g0076 a0001c0001t0006g0186 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0224 a0001c0001t0006g0336 a0002c0002t0006g0136	10	364	0.0275	c.154 others(9): Show c.1549+1238C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131028	C C	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	364	0.0028	c.154 others(9): Show c.1549+1568C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131051	G G	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(33): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0005c0014 a0009c0024	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0005c0014t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0005c0014t0001g0339 a0009c0024t0001g0263	36	364	0.0989	c.154 others(9): Show c.1549+1591G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131063	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02559.hp2 others(13): Show 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(11): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0004 a0002c0002t0001g0264 a0005c0014t0001g0339 a0009c0024t0001g0263	16	364	0.0440	c.154 others(9): Show c.1549+1603C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131064	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(13): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271	16	364	0.0440	c.154 others(9): Show c.1549+1604G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131080	C C	T T	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	c.154 others(9): Show c.1549+1620C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131081	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(17): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0001c0001t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0097 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	20	364	0.0550	c.154 others(9): Show c.1549+1621G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131429	C C	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0158 a0001c0001t0001g0055 a0001c0001t0001g0158	2	364	0.0055	c.154 others(9): Show c.1549+1969C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131468	T T	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03486.hp2 HG01175.hp2 HG03486.hp2	a0002 a0002	a0002c0010 a0002c0025 a0002c0010 a0002c0025	a0002c0010t0001 a0002c0025t0001 a0002c0010t0001 a0002c0025t0001	a0002c0010t0001g0018 a0002c0025t0001g0255 a0002c0010t0001g0018 a0002c0025t0001g0255	2	364	0.0055	c.154 others(9): Show c.1549+2008T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131566	A A	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0103 a0001c0001t0005g0104	2	364	0.0055	c.154 others(9): Show c.1549+2106A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131580	T T	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01243.hp2 others(36): Show HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0015 a0002c0002 others(5): Show a0001c0001 a0001c0015 a0002c0002 a0002c0007 a0002c0010 a0002c0025 a0005c0014 a0009c0024	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0007t0001 a0002c0010t0001 a0002c0025t0001 a0005c0014t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0001c0015t0001g0070 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0025t0001g0255 a0005c0014t0001g0339 a0009c0024t0001g0263	39	364	0.1071	c.154 others(9): Show c.1549+2120T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar

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