Joint Open Genome and Omics Platform (JoGo)

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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	125128953	C C	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG02071.hp1 others(17): Show HG00597.hp1 HG00621.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02451.hp1 HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18971.hp1 NA18986.hp1 NA19011.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0026 a0001c0003 a0002c0026	a0001c0003t0001 a0001c0003t0009 a0002c0026t0001 a0001c0003t0001 a0001c0003t0009 a0002c0026t0001	a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 others(17): Show a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0002c0026t0001g0141	20	362	0.0552	c.142 others(8): Show c.1424-382C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129009	A A	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp2 HG03492.hp1 others(1): Show HG03239.hp1 HG03490.hp2 HG03492.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	4	362	0.0110	c.142 others(8): Show c.1424-326A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129144	G G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	362	0.0028	c.142 others(8): Show c.1424-191G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129174	T T	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	362	0.0028	c.142 others(8): Show c.1424-161T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129202	C C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(4): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 NA19240.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0009 a0005c0013 others(1): Show a0001c0001 a0001c0009 a0005c0013 a0010c0016	a0001c0001t0001 a0001c0009t0001 a0005c0013t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0005c0013t0001 a0010c0016t0001	a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0009t0001g0346 a0001c0009t0001g0347 a0005c0013t0001g0348 a0010c0016t0001g0032	7	362	0.0193	c.142 others(8): Show c.1424-133C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129208	C C	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	362	0.0028	c.142 others(8): Show c.1424-127C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129261	A A	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	362	0.0028	c.142 others(7): Show c.1424-74A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129579	C C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(29): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18971.hp1 NA18986.hp1 NA19011.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0002c0026	a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 a0002c0005t0001 a0002c0026t0001	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(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.154 others(8): Show c.1549+119C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129657	G G	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp2 HG03579.hp1 others(1): Show HG02922.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	4	362	0.0110	c.154 others(8): Show c.1549+197G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129813	C C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158	11	362	0.0304	c.154 others(8): Show c.1549+353C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129846	G G	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	362	0.0028	c.154 others(8): Show c.1549+386G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125129915	C C	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp2 HG02683.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0187 a0001c0001t0002g0049 a0001c0001t0002g0187	2	362	0.0055	c.154 others(8): Show c.1549+455C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130068	C C	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0337 a0004c0014t0001g0337	1	346	0.0029	c.154 others(8): Show c.1549+608C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130068	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(13): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269	16	361	0.0443	c.154 others(8): Show c.1549+608C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130250	G G	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158	11	362	0.0304	c.154 others(8): Show c.1549+790G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130477	G G	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158	11	362	0.0304	c.154 others(9): Show c.1549+1017G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130555	T T	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	362	0.0028	c.154 others(9): Show c.1549+1095T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130668	T T	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18979.hp2 NA18954.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0204 a0001c0001t0002g0185 a0001c0001t0002g0204	2	362	0.0055	c.154 others(9): Show c.1549+1208T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125130698	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp1 others(6): Show HG00099.hp1 HG00140.hp1 HG00639.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp1 HG02698.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0055 a0001c0001t0006g0056 a0001c0001t0006g0077 others(6): Show a0001c0001t0005g0055 a0001c0001t0006g0056 a0001c0001t0006g0077 a0001c0001t0006g0186 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0234 a0001c0001t0006g0334	9	362	0.0249	c.154 others(9): Show c.1549+1238C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131028	C C	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	362	0.0028	c.154 others(9): Show c.1549+1568C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131051	G G	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(33): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0004c0014 a0007c0024	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0004c0014t0001 a0007c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0004c0014t0001g0337 a0007c0024t0001g0261	36	362	0.0994	c.154 others(9): Show c.1549+1591G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131063	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02559.hp2 others(13): Show HG01243.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0014 others(1): Show a0001c0001 a0002c0002 a0004c0014 a0007c0024	a0001c0001t0001 a0002c0002t0001 a0004c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0014t0001 a0007c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	16	362	0.0442	c.154 others(9): Show c.1549+1603C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131064	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(13): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269	16	362	0.0442	c.154 others(9): Show c.1549+1604G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131080	C C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 others(3): Show a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025	7	362	0.0193	c.154 others(9): Show c.1549+1620C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131081	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(17): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0001c0001t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0078 a0001c0001t0001g0097 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	20	362	0.0552	c.154 others(9): Show c.1549+1621G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131429	C C	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0158 a0001c0001t0001g0075 a0001c0001t0001g0158	2	362	0.0055	c.154 others(9): Show c.1549+1969C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131468	T T	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03486.hp2 HG01175.hp2 HG03486.hp2	a0002 a0002	a0002c0010 a0002c0025 a0002c0010 a0002c0025	a0002c0010t0001 a0002c0025t0001 a0002c0010t0001 a0002c0025t0001	a0002c0010t0001g0020 a0002c0025t0001g0253 a0002c0010t0001g0020 a0002c0025t0001g0253	2	362	0.0055	c.154 others(9): Show c.1549+2008T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131566	A A	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0103 a0001c0001t0005g0104	2	362	0.0055	c.154 others(9): Show c.1549+2106A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131580	T T	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01243.hp2 others(36): Show HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0015 a0002c0002 others(5): Show a0001c0001 a0001c0015 a0002c0002 a0002c0007 a0002c0010 a0002c0025 a0004c0014 a0007c0024	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0007t0001 a0002c0010t0001 a0002c0025t0001 a0004c0014t0001 a0007c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(34): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0001c0015t0001g0063 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0010t0001g0020 a0002c0025t0001g0253 a0004c0014t0001g0337 a0007c0024t0001g0261	39	362	0.1077	c.154 others(9): Show c.1549+2120T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	14/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125131695	G G	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0230 a0001c0003t0001g0230	1	362	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 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0002c0002 a0003c0022 others(2): Show a0001c0001 a0002c0002 a0003c0022 a0008c0023 a0009c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0003c0022t0001 a0008c0023t0003 a0009c0018t0003	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0052 others(106): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0259 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0176 a0001c0001t0003g0227 a0001c0001t0003g0274 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0328 a0001c0001t0008g0210 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0003g0121 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0003c0022t0001g0129 a0008c0023t0003g0120 a0009c0018t0003g0278	110	362	0.3039	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	a0001c0001t0001g0078 a0002c0007t0001g0018 a0002c0007t0001g0019 others(1): Show a0001c0001t0001g0078 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	4	362	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 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0002c0011 a0002c0021 a0005c0013 a0010c0016	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0009t0001 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001 a0005c0013t0001 a0010c0016t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(31): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0285 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0009t0001g0346 a0001c0009t0001g0347 a0001c0012t0004g0218 a0002c0011t0001g0016 a0002c0021t0001g0026 a0005c0013t0001g0348 a0010c0016t0001g0032	35	362	0.0967	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	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(23): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0008t0001g0217 a0001c0012t0004g0218 a0002c0011t0001g0016 a0002c0021t0001g0026	27	362	0.0746	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 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0001 a0010c0016t0001 a0001c0001t0001 a0010c0016t0001	a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 a0010c0016t0001g0032	4	362	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	a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	3	362	0.0083	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 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0002c0026t0001g0141	25	362	0.0691	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	a0001c0001t0002g0250 a0001c0017t0002g0206 a0001c0001t0002g0250 a0001c0017t0002g0206	2	362	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 a0001c0001t0005g0194 a0001c0001t0005g0344 a0001c0001t0011g0108	7	362	0.0193	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	a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	3	362	0.0083	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	a0001c0004t0001g0220 a0001c0004t0001g0220	1	362	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	362	0.0083	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	362	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	362	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	a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0078 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	21	362	0.0580	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	a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 others(4): Show a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0002c0002t0001g0013 a0002c0002t0005g0096	7	362	0.0193	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	a0001c0001t0001g0285 a0001c0001t0001g0285	1	362	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	a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0125	9	362	0.0249	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	a0001c0009t0001g0346 a0001c0009t0001g0347 a0001c0009t0001g0346 a0001c0009t0001g0347	2	362	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	a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0350 a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0350	3	362	0.0083	c.161 others(8): Show c.1619+114C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/17				chr12	TogoVar

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