Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	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	a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0097 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0005g0048 a0001c0004t0001g0219 a0001c0004t0001g0220 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0139 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269	16	362	0.0442	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	a0001c0015t0001g0063 a0002c0010t0001g0020 a0002c0025t0001g0253 a0001c0015t0001g0063 a0002c0010t0001g0020 a0002c0025t0001g0253	3	362	0.0083	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 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0006c0019	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 a0006c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 others(186): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0005g0048 a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0194 a0001c0001t0005g0344 a0001c0001t0006g0092 a0001c0001t0010g0196 a0001c0001t0011g0108 a0001c0003t0001g0072 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0003t0009g0190 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0008t0002g0189 a0001c0012t0004g0218 a0001c0015t0001g0063 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0069 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0002t0005g0096 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0010t0001g0020 a0002c0011t0001g0016 a0002c0021t0001g0026 a0002c0025t0001g0253 a0002c0026t0001g0141 a0006c0019t0001g0182	192	362	0.5304	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	362	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	362	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 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0011 a0002c0021 a0002c0026 a0006c0019	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 a0006c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 others(178): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0194 a0001c0001t0005g0344 a0001c0001t0010g0196 a0001c0001t0011g0108 a0001c0003t0001g0072 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0003t0009g0190 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0008t0002g0189 a0001c0012t0004g0218 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0002t0005g0096 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0002c0011t0001g0016 a0002c0021t0001g0026 a0002c0026t0001g0141 a0006c0019t0001g0182	184	362	0.5083	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	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0348 a0005c0013t0001g0348	1	362	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	a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	3	362	0.0083	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	362	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	a0001c0001t0008g0210 a0001c0001t0008g0210	1	362	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	a0001c0001t0001g0038 a0001c0001t0001g0038	1	362	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	a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 others(10): Show a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0194 a0001c0001t0005g0344 a0001c0001t0011g0108 a0002c0002t0005g0096	13	362	0.0359	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	a0001c0001t0002g0167 a0001c0001t0002g0167	1	362	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 a0005 a0001 a0002 a0005	a0001c0001 a0001c0009 a0002c0011 others(2): Show a0001c0001 a0001c0009 a0002c0011 a0002c0021 a0005c0013	a0001c0001t0001 a0001c0009t0001 a0002c0011t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0002c0011t0001 a0002c0021t0001 a0005c0013t0001	a0001c0001t0001g0038 a0001c0009t0001g0346 a0001c0009t0001g0347 others(3): Show a0001c0001t0001g0038 a0001c0009t0001g0346 a0001c0009t0001g0347 a0002c0011t0001g0016 a0002c0021t0001g0026 a0005c0013t0001g0348	6	362	0.0166	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	a0001c0001t0001g0078 a0001c0015t0001g0063 a0002c0010t0001g0020 others(1): Show a0001c0001t0001g0078 a0001c0015t0001g0063 a0002c0010t0001g0020 a0002c0025t0001g0253	4	362	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	a0001c0003t0001g0178 a0001c0003t0001g0221 a0001c0003t0001g0225 others(1): Show a0001c0003t0001g0178 a0001c0003t0001g0221 a0001c0003t0001g0225 a0001c0003t0009g0190	4	362	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	362	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	a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0001c0020t0002g0170 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269	18	362	0.0497	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	a0002c0011t0001g0016 a0002c0021t0001g0026 a0002c0011t0001g0016 a0002c0021t0001g0026	2	362	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	362	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(28): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0338 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0141	32	362	0.0884	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 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0004c0014 a0006c0019 a0007c0024	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 a0004c0014t0001 a0006c0019t0001 a0007c0024t0001	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 others(177): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0005g0048 a0001c0001t0010g0196 a0001c0003t0001g0072 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0003t0009g0190 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0008t0002g0189 a0001c0012t0004g0218 a0001c0015t0001g0063 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0069 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0010t0001g0020 a0002c0011t0001g0016 a0002c0021t0001g0026 a0002c0025t0001g0253 a0002c0026t0001g0141 a0004c0014t0001g0337 a0006c0019t0001g0182 a0007c0024t0001g0261	184	362	0.5083	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	a0004 a0007 a0004 a0007	a0004c0014 a0007c0024 a0004c0014 a0007c0024	a0004c0014t0001 a0007c0024t0001 a0004c0014t0001 a0007c0024t0001	a0004c0014t0001g0337 a0007c0024t0001g0261 a0004c0014t0001g0337 a0007c0024t0001g0261	2	362	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	a0001c0012t0004g0218 a0001c0012t0004g0218	1	362	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 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0026 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0003t0009 a0001c0008t0002 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0002c0026t0001 a0006c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0091 others(135): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0006g0092 a0001c0001t0010g0196 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0001c0008t0002g0189 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0069 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0141 a0006c0019t0001g0182	140	362	0.3867	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	362	0.0083	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	362	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 a0001c0001t0002g0203 a0001c0001t0002g0251 a0001c0001t0002g0188 a0001c0001t0002g0203 a0001c0001t0002g0251	3	362	0.0083	c.188 others(8): Show c.1881+518A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137425	G G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00733.hp2 others(25): Show HG00544.hp2 HG00597.hp2 HG00733.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 a0001c0001t0001g0159 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0012t0004g0218 a0002c0011t0001g0016 a0002c0021t0001g0026	28	362	0.0773	c.188 others(8): Show c.1881+561G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137457	C C	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	362	0.0028	c.188 others(8): Show c.1881+593C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137514	G G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01433.hp1 others(2): Show HG00140.hp2 HG01192.hp1 HG01433.hp1 HG01517.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0207 a0001c0001t0002g0208 others(2): Show a0001c0001t0002g0082 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0236 a0001c0001t0002g0242	5	362	0.0138	c.188 others(8): Show c.1881+650G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137520	G G	A A	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(28): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0338 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0141	32	362	0.0884	c.188 others(8): Show c.1881+656G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137716	G G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(136): 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	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0026 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0009 a0001c0008t0002 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0002c0026t0001 a0006c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0091 others(134): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0010g0196 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0001c0008t0002g0189 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0069 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0141 a0006c0019t0001g0182	139	362	0.3840	c.188 others(8): Show c.1881+852G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137731	C C	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02809.hp2 others(3): Show HG01243.hp2 HG02723.hp1 HG02809.hp2 HG03453.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0014 others(1): Show a0001c0001 a0002c0002 a0004c0014 a0007c0024	a0001c0001t0005 a0002c0002t0001 a0004c0014t0001 others(1): Show a0001c0001t0005 a0002c0002t0001 a0004c0014t0001 a0007c0024t0001	a0001c0001t0005g0048 a0002c0002t0001g0006 a0002c0002t0001g0262 others(2): Show a0001c0001t0005g0048 a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	6	362	0.0166	c.188 others(8): Show c.1881+867C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137825	G G	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	362	0.0028	c.188 others(8): Show c.1881+961G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137944	T T	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02280.hp1 HG02486.hp1 others(4): Show HG01175.hp2 HG02280.hp1 HG02486.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0007 others(2): Show a0001c0001 a0001c0015 a0002c0007 a0002c0010 a0002c0025	a0001c0001t0001 a0001c0015t0001 a0002c0007t0001 others(2): Show a0001c0001t0001 a0001c0015t0001 a0002c0007t0001 a0002c0010t0001 a0002c0025t0001	a0001c0001t0001g0078 a0001c0015t0001g0063 a0002c0007t0001g0018 others(4): Show a0001c0001t0001g0078 a0001c0015t0001g0063 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0010t0001g0020 a0002c0025t0001g0253	7	362	0.0193	c.188 others(9): Show c.1881+1080T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137962	T T	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	362	0.0028	c.188 others(9): Show c.1881+1098T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125137979	G G	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	362	0.0028	c.188 others(9): Show c.1881+1115G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138083	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(28): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0338 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0141	32	362	0.0884	c.188 others(9): Show c.1881+1219C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138317	A A	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	362	0.0028	c.188 others(9): Show c.1881+1453A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138515	C C	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	362	0.0028	c.188 others(9): Show c.1881+1651C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138594	G G	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	362	0.0028	c.188 others(9): Show c.1881+1730G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138748	A A	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG06807.hp1 HG02280.hp1 HG03471.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	3	362	0.0083	c.188 others(9): Show c.1881+1884A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138794	C C	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 NA18522.hp1 HG02145.hp1 HG03098.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011	3	362	0.0083	c.188 others(9): Show c.1881+1930C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138852	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(15): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02647.hp2 HG02896.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	a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0001c0001t0001g0285 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269	18	362	0.0497	c.188 others(9): Show c.1881+1988G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138866	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02809.hp2 others(3): Show HG01243.hp2 HG02723.hp1 HG02809.hp2 HG03453.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0014 others(1): Show a0001c0001 a0002c0002 a0004c0014 a0007c0024	a0001c0001t0005 a0002c0002t0001 a0004c0014t0001 others(1): Show a0001c0001t0005 a0002c0002t0001 a0004c0014t0001 a0007c0024t0001	a0001c0001t0005g0048 a0002c0002t0001g0006 a0002c0002t0001g0262 others(2): Show a0001c0001t0005g0048 a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	6	362	0.0166	c.188 others(9): Show c.1881+2002C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125138882	C C	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0123 a0002c0006t0001g0123	1	362	0.0028	c.188 others(9): Show c.1881+2018C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125139198	A A	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	362	0.0028	c.188 others(9): Show c.1881+2334A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125139226	A A	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04204.hp1 HG03490.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	362	0.0055	c.188 others(9): Show c.1881+2362A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125139309	C C	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18954.hp2 NA18964.hp1 others(6): Show HG00621.hp2 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18983.hp2 NA18993.hp2 NA19004.hp1 NA19012.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0001c0001t0001 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0325 a0002c0002t0001g0122 a0002c0002t0001g0132 others(6): Show a0001c0001t0001g0325 a0002c0002t0001g0122 a0002c0002t0001g0132 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149	9	362	0.0249	c.188 others(9): Show c.1881+2445C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17				chr12	TogoVar

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