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	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	125131695	G G	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0221 a0001c0003t0001g0221	1	364	0.0028	c.154 others(9): Show c.1549+2235G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131745	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(107): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0002c0002 a0004c0018 others(2): Show a0001c0001 a0002c0002 a0004c0018 a0008c0023 a0010c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0004c0018t0003 a0008c0023t0003 a0010c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0061 others(106): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0358 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0008g0208 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0003g0120 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0004c0018t0003g0280 a0008c0023t0003g0119 a0010c0022t0001g0128	110	364	0.3022	c.155 others(9): Show c.1550-2258C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131746	G G	A A	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.155 others(9): Show c.1550-2257G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131787	C C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG01975.hp1 others(32): Show HG00597.hp2 HG00733.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02897.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 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0002c0011 a0002c0021 a0006c0013 a0007c0016	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0009t0001 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001 a0006c0013t0001 a0007c0016t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(32): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0159 a0001c0001t0001g0287 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026 a0006c0013t0001g0350 a0007c0016t0001g0032	35	364	0.0962	c.155 others(9): Show c.1550-2216C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131788	G G	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0136 a0002c0002t0006g0136	1	364	0.0028	c.155 others(9): Show c.1550-2215G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131836	A A	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01975.hp1 others(24): Show HG00544.hp2 HG00597.hp2 HG01975.hp1 HG02004.hp2 HG02015.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 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0002c0011 a0002c0021	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(24): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026	27	364	0.0742	c.155 others(9): Show c.1550-2167A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131883	C C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(1): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0001 a0007c0016t0001 a0001c0001t0001 a0007c0016t0001	a0001c0001t0001g0077 a0001c0001t0001g0356 a0001c0001t0001g0357 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0356 a0001c0001t0001g0357 a0007c0016t0001g0032	4	364	0.0110	c.155 others(9): Show c.1550-2120C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131889	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.155 others(9): Show c.1550-2114G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125132037	G G	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(22): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 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	a0001c0001 a0001c0003 a0002c0026 a0001c0001 a0001c0003 a0002c0026	a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 a0002c0026t0001	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(22): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0009g0189 a0002c0026t0001g0145	25	364	0.0687	c.155 others(9): Show c.1550-1966G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125132266	C C	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	c.155 others(9): Show c.1550-1737C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125132351	A A	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01928.hp2 HG01978.hp1 others(4): Show HG01515.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp1 HG02273.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 others(4): Show a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0011g0108	7	364	0.0192	c.155 others(9): Show c.1550-1652A>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125132444	G G	A A	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.155 others(9): Show c.1550-1559G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125132491	C C	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0213 a0001c0004t0001g0213	1	364	0.0028	c.155 others(9): Show c.1550-1512C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133178	A A	G G	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.155 others(8): Show c.1550-825A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133191	C C	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	364	0.0028	c.155 others(8): Show c.1550-812C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133352	C C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	364	0.0028	c.155 others(8): Show c.1550-651C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133371	T T	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01361.hp1 others(18): Show HG01109.hp1 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 a0001c0001t0001g0078 a0001c0001t0001g0079 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	21	364	0.0577	c.155 others(8): Show c.1550-632T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133434	G G	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02809.hp1 others(4): Show HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0002c0002t0005 a0001c0001t0005 a0002c0002t0001 a0002c0002t0005	a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 others(4): Show a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0002c0002t0001g0011 a0002c0002t0005g0096	7	364	0.0192	c.155 others(8): Show c.1550-569G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133863	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.155 others(8): Show c.1550-140C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125133979	C C	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02922.hp2 others(6): Show HG02145.hp1 HG02145.hp2 HG02922.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0124	9	364	0.0247	c.155 others(7): Show c.1550-24C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134046	C C	T T	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0009t0001g0348 a0001c0009t0001g0349	2	364	0.0055	c.159 others(4): Show c.1593C>T	p.Thr others(6): Show p.Thr531Thr	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/18	1743/3256	1593/2019	531/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125134186	C C	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18993.hp1 NA19012.hp2 NA18986.hp2 NA18993.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0306 a0001c0001t0001g0352 a0001c0001t0001g0289 a0001c0001t0001g0306 a0001c0001t0001g0352	3	364	0.0082	c.161 others(8): Show c.1619+114C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134198	A A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01361.hp1 others(13): Show HG01109.hp1 HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0001t0001g0097 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0005g0048 a0001c0004t0001g0212 a0001c0004t0001g0213 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0137 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271	16	364	0.0440	c.161 others(8): Show c.1619+126A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134300	C C	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03139.hp1 HG03486.hp2 HG01175.hp2 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0010 a0002c0025 a0001c0015 a0002c0010 a0002c0025	a0001c0015t0001 a0002c0010t0001 a0002c0025t0001 a0001c0015t0001 a0002c0010t0001 a0002c0025t0001	a0001c0015t0001g0070 a0002c0010t0001g0018 a0002c0025t0001g0255 a0001c0015t0001g0070 a0002c0010t0001g0018 a0002c0025t0001g0255	3	364	0.0082	c.161 others(8): Show c.1619+228C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134407	C C	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(189): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 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.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0002 a0001c0012t0004 a0001c0015t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0002c0026t0001 a0003c0019t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0033 others(188): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 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 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0005g0048 a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0006g0092 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0053 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0015t0001g0070 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0075 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0005g0096 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0002c0026t0001g0145 a0003c0019t0001g0184	192	364	0.5275	c.161 others(8): Show c.1619+335C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134613	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	c.162 others(8): Show c.1620-181G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134758	G G	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	364	0.0028	c.162 others(7): Show c.1620-36G>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134762	C C	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(181): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 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 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0011 a0002c0021 a0002c0026 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0002 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0011t0001 a0002c0021t0001 a0002c0026t0001 a0003c0019t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0033 others(180): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0257 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 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0053 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0005g0096 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0026t0001g0145 a0003c0019t0001g0184	184	364	0.5055	c.162 others(7): Show c.1620-32C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125134805	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0350 a0006c0013t0001g0350	1	364	0.0028	c.163 others(4): Show c.1631T>C	p.Leu others(6): Show p.Leu544Pro	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/18	1781/3256	1631/2019	544/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125134836	G G	A A	synonymous_variant synonymous_variant	LOW	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.166 others(4): Show c.1662G>A	p.Ser others(6): Show p.Ser554Ser	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/18	1812/3256	1662/2019	554/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125135098	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	c.167 others(8): Show c.1678+246G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135128	C C	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0208 a0001c0001t0008g0208	1	364	0.0028	c.167 others(8): Show c.1678+276C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135233	G G	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	364	0.0028	c.167 others(8): Show c.1678+381G>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135337	C C	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01928.hp2 HG01978.hp1 others(10): Show HG01515.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp1 HG02273.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0011 a0002c0002t0005 a0001c0001t0005 a0001c0001t0011 a0002c0002t0005	a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 others(10): Show a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0011g0108 a0002c0002t0005g0096	13	364	0.0357	c.167 others(8): Show c.1678+485C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135518	A A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	364	0.0028	c.167 others(8): Show c.1678+666A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135748	T T	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02451.hp2 HG02717.hp1 others(3): Show HG01168.hp2 HG02451.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0009 a0002c0011 others(2): Show a0001c0001 a0001c0009 a0002c0011 a0002c0021 a0006c0013	a0001c0001t0001 a0001c0009t0001 a0002c0011t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0002c0011t0001 a0002c0021t0001 a0006c0013t0001	a0001c0001t0001g0039 a0001c0009t0001g0348 a0001c0009t0001g0349 others(3): Show a0001c0001t0001g0039 a0001c0009t0001g0348 a0001c0009t0001g0349 a0002c0011t0001g0014 a0002c0021t0001g0026 a0006c0013t0001g0350	6	364	0.0165	c.167 others(8): Show c.1678+896T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135756	T T	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG03139.hp1 others(1): Show HG01175.hp2 HG02486.hp1 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0010 others(1): Show a0001c0001 a0001c0015 a0002c0010 a0002c0025	a0001c0001t0001 a0001c0015t0001 a0002c0010t0001 others(1): Show a0001c0001t0001 a0001c0015t0001 a0002c0010t0001 a0002c0025t0001	a0001c0001t0001g0079 a0001c0015t0001g0070 a0002c0010t0001g0018 others(1): Show a0001c0001t0001g0079 a0001c0015t0001g0070 a0002c0010t0001g0018 a0002c0025t0001g0255	4	364	0.0110	c.167 others(8): Show c.1678+904T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135890	C C	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02080.hp1 NA19011.hp1 others(1): Show HG00621.hp1 HG02080.hp1 NA19011.hp1 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0009 a0001c0003t0001 a0001c0003t0009	a0001c0003t0001g0214 a0001c0003t0001g0217 a0001c0003t0001g0236 others(1): Show a0001c0003t0001g0214 a0001c0003t0001g0217 a0001c0003t0001g0236 a0001c0003t0009g0189	4	364	0.0110	c.167 others(8): Show c.1679-772C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125135946	A A	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0024 a0002c0005t0001g0024	1	364	0.0028	c.167 others(8): Show c.1679-716A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136021	C C	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp1 HG01361.hp1 others(15): Show HG00558.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 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 a0001c0020 a0002c0002 a0001c0001 a0001c0020 a0002c0002	a0001c0001t0001 a0001c0020t0002 a0002c0002t0001 a0001c0001t0001 a0001c0020t0002 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0257 a0001c0020t0002g0173 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271	18	364	0.0495	c.167 others(8): Show c.1679-641C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136127	G G	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG02451.hp2 HG03139.hp2	a0002 a0002	a0002c0011 a0002c0021 a0002c0011 a0002c0021	a0002c0011t0001 a0002c0021t0001 a0002c0011t0001 a0002c0021t0001	a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0011t0001g0014 a0002c0021t0001g0026	2	364	0.0055	c.167 others(8): Show c.1679-535G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136174	C C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0024 a0002c0005t0001g0024	1	364	0.0028	c.167 others(8): Show c.1679-488C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136467	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.167 others(8): Show c.1679-195C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136520	T T	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(181): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 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.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0003c0019 a0005c0014 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0002 a0001c0012t0004 a0001c0015t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0002c0026t0001 a0003c0019t0001 a0005c0014t0001 a0009c0024t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0033 others(179): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 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 a0001c0001t0005g0048 a0001c0001t0010g0194 a0001c0003t0001g0053 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0015t0001g0070 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0075 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0002c0026t0001g0145 a0003c0019t0001g0184 a0005c0014t0001g0339 a0009c0024t0001g0263	184	364	0.5055	c.167 others(8): Show c.1679-142T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136673	G G	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 NA18906.hp1 HG01243.hp2 NA18906.hp1	a0005 a0009 a0005 a0009	a0005c0014 a0009c0024 a0005c0014 a0009c0024	a0005c0014t0001 a0009c0024t0001 a0005c0014t0001 a0009c0024t0001	a0005c0014t0001g0339 a0009c0024t0001g0263 a0005c0014t0001g0339 a0009c0024t0001g0263	2	364	0.0055	c.169 others(4): Show c.1690G>C	p.Glu others(6): Show p.Glu564Gln	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/18	1840/3256	1690/2019	564/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125136738	C C	T T	synonymous_variant synonymous_variant	LOW	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0244 a0001c0012t0004g0244	1	364	0.0028	c.175 others(4): Show c.1755C>T	p.Leu others(6): Show p.Leu585Leu	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/18	1905/3256	1755/2019	585/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125136873	A A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0026 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0003t0009 a0001c0008t0002 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0002c0026t0001 a0003c0019t0001	a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0091 others(136): Show a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 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 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0009g0189 a0001c0008t0002g0238 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0075 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0145 a0003c0019t0001g0184	140	364	0.3846	c.188 others(6): Show c.1881+9A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125136891	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	c.188 others(7): Show c.1881+27G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137259	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	c.188 others(8): Show c.1881+395C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137382	A A	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp1 NA20752.hp2 HG00735.hp1 HG01981.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0201 a0001c0001t0002g0253 a0001c0001t0002g0188 a0001c0001t0002g0201 a0001c0001t0002g0253	3	364	0.0082	c.188 others(8): Show c.1881+518A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar

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