Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ACAN_chr15_88798436_88880353	88856963	T T	G G	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0071 a0071	a0071c0130 a0071c0130	a0071c0130t0001 a0071c0130t0001	a0071c0130t0001g0176 a0071c0130t0001g0176	1	368	0.0027	c.437 others(4): Show c.4378T>G	p.Ser others(7): Show p.Ser1460Ala	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4759/8960	4378/7707	1460/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856966	A A	G G	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0071 a0071	a0071c0130 a0071c0130	a0071c0130t0001 a0071c0130t0001	a0071c0130t0001g0176 a0071c0130t0001g0176	1	368	0.0027	c.438 others(4): Show c.4381A>G	p.Thr others(7): Show p.Thr1461Ala	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4762/8960	4381/7707	1461/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856969	T T	C C	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0071 a0071	a0071c0130 a0071c0130	a0071c0130t0001 a0071c0130t0001	a0071c0130t0001g0176 a0071c0130t0001g0176	1	368	0.0027	c.438 others(4): Show c.4384T>C	p.Ser others(7): Show p.Ser1462Pro	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4765/8960	4384/7707	1462/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856973	C C	G G	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0071 a0071	a0071c0130 a0071c0130	a0071c0130t0001 a0071c0130t0001	a0071c0130t0001g0176 a0071c0130t0001g0176	1	368	0.0027	c.438 others(4): Show c.4388C>G	p.Ala others(7): Show p.Ala1463Gly	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4769/8960	4388/7707	1463/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856979	G G	A A	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0071 a0071	a0071c0130 a0071c0130	a0071c0130t0001 a0071c0130t0001	a0071c0130t0001g0176 a0071c0130t0001g0176	1	368	0.0027	c.439 others(4): Show c.4394G>A	p.Gly others(7): Show p.Gly1465Glu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4775/8960	4394/7707	1465/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856984	C C	A A	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0071 a0071	a0071c0130 a0071c0130	a0071c0130t0001 a0071c0130t0001	a0071c0130t0001g0176 a0071c0130t0001g0176	1	368	0.0027	c.439 others(4): Show c.4399C>A	p.Leu others(7): Show p.Leu1467Ile	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4780/8960	4399/7707	1467/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857108	A A	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(134): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18970.hp1 NA18972.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0005 a0006 others(51): Show a0002 a0005 a0006 a0011 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0032 a0034 a0035 a0036 a0038 a0042 a0043 a0051 a0053 a0054 a0055 a0056 a0057 a0058 a0060 a0061 a0064 a0070 a0071 a0072 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0123 a0132 a0138 a0139 a0140 a0143	a0002c0001 a0002c0132 a0005c0004 others(66): Show a0002c0001 a0002c0132 a0005c0004 a0005c0035 a0005c0037 a0005c0123 a0006c0008 a0006c0017 a0011c0021 a0011c0109 a0011c0121 a0015c0036 a0015c0039 a0016c0020 a0016c0120 a0017c0012 a0019c0018 a0020c0023 a0021c0040 a0021c0133 a0022c0019 a0023c0038 a0023c0124 a0024c0022 a0032c0182 a0032c0184 a0032c0191 a0034c0028 a0035c0073 a0035c0074 a0036c0029 a0038c0055 a0042c0115 a0042c0128 a0043c0033 a0051c0027 a0053c0188 a0054c0076 a0055c0072 a0056c0075 a0057c0070 a0058c0071 a0060c0078 a0061c0181 a0064c0082 a0070c0167 a0071c0130 a0072c0131 a0074c0126 a0075c0127 a0076c0119 a0077c0114 a0078c0122 a0079c0166 a0080c0125 a0081c0118 a0082c0116 a0083c0117 a0084c0111 a0085c0112 a0086c0110 a0087c0108 a0088c0129 a0123c0088 a0132c0183 a0138c0057 a0139c0058 a0140c0059 a0143c0189	a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 others(70): Show a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 a0005c0004t0001 a0005c0004t0006 a0005c0035t0001 a0005c0037t0001 a0005c0123t0001 a0006c0008t0001 a0006c0017t0001 a0011c0021t0001 a0011c0109t0001 a0011c0121t0001 a0015c0036t0005 a0015c0039t0001 a0016c0020t0001 a0016c0120t0001 a0017c0012t0001 a0019c0018t0001 a0020c0023t0001 a0021c0040t0001 a0021c0133t0001 a0022c0019t0001 a0023c0038t0001 a0023c0124t0001 a0024c0022t0001 a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0034c0028t0001 a0035c0073t0001 a0035c0074t0001 a0036c0029t0001 a0038c0055t0001 a0042c0115t0004 a0042c0128t0001 a0043c0033t0001 a0043c0033t0002 a0051c0027t0001 a0051c0027t0009 a0053c0188t0001 a0054c0076t0001 a0055c0072t0001 a0056c0075t0001 a0057c0070t0012 a0058c0071t0001 a0060c0078t0001 a0061c0181t0004 a0064c0082t0001 a0070c0167t0001 a0071c0130t0001 a0072c0131t0001 a0074c0126t0007 a0075c0127t0004 a0076c0119t0003 a0077c0114t0003 a0078c0122t0005 a0079c0166t0001 a0080c0125t0001 a0081c0118t0001 a0082c0116t0001 a0083c0117t0001 a0084c0111t0001 a0085c0112t0001 a0086c0110t0001 a0087c0108t0001 a0088c0129t0001 a0123c0088t0001 a0132c0183t0001 a0138c0057t0001 a0139c0058t0001 a0140c0059t0005 a0143c0189t0001	a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 others(130): Show a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0133 a0002c0001t0001g0136 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0180 a0002c0001t0001g0215 a0002c0001t0001g0223 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0254 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0325 a0002c0001t0001g0331 a0002c0001t0001g0334 a0002c0001t0001g0341 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0014g0054 a0002c0132t0001g0092 a0005c0004t0001g0057 a0005c0004t0001g0089 a0005c0004t0001g0235 a0005c0004t0001g0239 a0005c0004t0001g0240 a0005c0004t0001g0330 a0005c0004t0001g0340 a0005c0004t0006g0299 a0005c0004t0006g0300 a0005c0004t0006g0301 a0005c0035t0001g0191 a0005c0035t0001g0227 a0005c0037t0001g0192 a0005c0037t0001g0355 a0005c0123t0001g0158 a0006c0008t0001g0012 a0006c0008t0001g0024 a0006c0008t0001g0088 a0006c0008t0001g0111 a0006c0008t0001g0166 a0006c0008t0001g0250 a0006c0008t0001g0354 a0006c0017t0001g0093 a0006c0017t0001g0275 a0006c0017t0001g0276 a0011c0021t0001g0003 a0011c0021t0001g0297 a0011c0109t0001g0153 a0011c0121t0001g0269 a0015c0036t0005g0216 a0015c0036t0005g0285 a0015c0039t0001g0113 a0015c0039t0001g0263 a0016c0020t0001g0005 a0016c0020t0001g0067 a0016c0120t0001g0345 a0017c0012t0001g0145 a0017c0012t0001g0146 a0017c0012t0001g0318 a0017c0012t0001g0346 a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 a0020c0023t0001g0196 a0020c0023t0001g0241 a0020c0023t0001g0284 a0021c0040t0001g0002 a0021c0133t0001g0161 a0022c0019t0001g0202 a0022c0019t0001g0204 a0022c0019t0001g0205 a0023c0038t0001g0046 a0023c0038t0001g0103 a0023c0124t0001g0257 a0024c0022t0001g0041 a0024c0022t0001g0112 a0024c0022t0001g0249 a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0034c0028t0001g0064 a0034c0028t0001g0194 a0035c0073t0001g0068 a0035c0074t0001g0356 a0036c0029t0001g0001 a0038c0055t0001g0043 a0038c0055t0001g0050 a0042c0115t0004g0047 a0042c0128t0001g0324 a0043c0033t0001g0157 a0043c0033t0002g0343 a0051c0027t0001g0010 a0051c0027t0009g0159 a0053c0188t0001g0357 a0054c0076t0001g0361 a0055c0072t0001g0283 a0056c0075t0001g0248 a0057c0070t0012g0228 a0058c0071t0001g0221 a0060c0078t0001g0085 a0061c0181t0004g0344 a0064c0082t0001g0109 a0070c0167t0001g0138 a0071c0130t0001g0176 a0072c0131t0001g0314 a0074c0126t0007g0302 a0075c0127t0004g0206 a0076c0119t0003g0265 a0077c0114t0003g0208 a0078c0122t0005g0015 a0079c0166t0001g0244 a0080c0125t0001g0226 a0081c0118t0001g0274 a0082c0116t0001g0140 a0083c0117t0001g0238 a0084c0111t0001g0019 a0085c0112t0001g0160 a0086c0110t0001g0190 a0087c0108t0001g0045 a0088c0129t0001g0255 a0123c0088t0001g0104 a0132c0183t0001g0328 a0138c0057t0001g0290 a0139c0058t0001g0245 a0140c0059t0005g0298 a0143c0189t0001g0121	137	368	0.3723	c.452 others(4): Show c.4523A>C	p.Glu others(7): Show p.Glu1508Ala	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4904/8960	4523/7707	1508/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857224	G G	A A	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0131 a0131	a0131c0085 a0131c0085	a0131c0085t0001 a0131c0085t0001	a0131c0085t0001g0225 a0131c0085t0001g0225	1	368	0.0027	c.463 others(4): Show c.4639G>A	p.Gly others(7): Show p.Gly1547Arg	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5020/8960	4639/7707	1547/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857353	C C	T T	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0095 a0095	a0095c0162 a0095c0162	a0095c0162t0001 a0095c0162t0001	a0095c0162t0001g0039 a0095c0162t0001g0039	1	368	0.0027	c.476 others(4): Show c.4768C>T	p.Pro others(7): Show p.Pro1590Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5149/8960	4768/7707	1590/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857449	A A	G G	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(27): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0010 a0028 a0029 others(12): Show a0010 a0028 a0029 a0030 a0037 a0040 a0050 a0063 a0068 a0102 a0115 a0118 a0119 a0120 a0136	a0010c0009 a0028c0024 a0029c0175 others(16): Show a0010c0009 a0028c0024 a0029c0175 a0029c0176 a0029c0187 a0030c0056 a0030c0174 a0037c0054 a0040c0041 a0050c0065 a0050c0066 a0063c0180 a0068c0134 a0102c0141 a0115c0178 a0118c0177 a0119c0096 a0120c0097 a0136c0064	a0010c0009t0001 a0010c0009t0002 a0028c0024t0001 others(17): Show a0010c0009t0001 a0010c0009t0002 a0028c0024t0001 a0029c0175t0003 a0029c0176t0003 a0029c0187t0003 a0030c0056t0001 a0030c0174t0010 a0037c0054t0001 a0040c0041t0001 a0050c0065t0001 a0050c0066t0001 a0063c0180t0001 a0068c0134t0013 a0102c0141t0001 a0115c0178t0001 a0118c0177t0001 a0119c0096t0001 a0120c0097t0001 a0136c0064t0001	a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 others(26): Show a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 a0010c0009t0002g0218 a0010c0009t0002g0219 a0010c0009t0002g0291 a0028c0024t0001g0014 a0028c0024t0001g0149 a0028c0024t0001g0150 a0029c0175t0003g0251 a0029c0176t0003g0252 a0029c0187t0003g0083 a0030c0056t0001g0201 a0030c0056t0001g0258 a0030c0174t0010g0165 a0037c0054t0001g0313 a0037c0054t0001g0326 a0040c0041t0001g0316 a0040c0041t0001g0317 a0050c0065t0001g0007 a0050c0066t0001g0163 a0063c0180t0001g0359 a0068c0134t0013g0280 a0102c0141t0001g0278 a0115c0178t0001g0286 a0118c0177t0001g0154 a0119c0096t0001g0282 a0120c0097t0001g0016 a0136c0064t0001g0296	30	368	0.0815	c.486 others(4): Show c.4864A>G	p.Thr others(7): Show p.Thr1622Ala	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5245/8960	4864/7707	1622/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857732	G G	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG03688.hp2 HG04184.hp2 others(5): Show HG00408.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18980.hp2 NA19005.hp2	a0032 a0038 a0060 others(2): Show a0032 a0038 a0060 a0132 a0143	a0032c0182 a0032c0184 a0032c0191 others(4): Show a0032c0182 a0032c0184 a0032c0191 a0038c0055 a0060c0078 a0132c0183 a0143c0189	a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 others(4): Show a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0038c0055t0001 a0060c0078t0001 a0132c0183t0001 a0143c0189t0001	a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 others(5): Show a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0038c0055t0001g0043 a0038c0055t0001g0050 a0060c0078t0001g0085 a0132c0183t0001g0328 a0143c0189t0001g0121	8	368	0.0217	c.514 others(4): Show c.5147G>T	p.Ser others(7): Show p.Ser1716Ile	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5528/8960	5147/7707	1716/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857878	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(252): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 others(108): Show a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0046 a0049 a0050 a0051 a0053 a0054 a0055 a0056 a0057 a0058 a0060 a0061 a0063 a0064 a0065 a0066 a0067 a0068 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0092 a0093 a0096 a0102 a0105 a0106 a0109 a0111 a0112 a0113 a0114 a0115 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143	a0002c0001 a0002c0132 a0003c0003 others(140): Show a0002c0001 a0002c0132 a0003c0003 a0003c0011 a0003c0138 a0005c0004 a0005c0035 a0005c0037 a0005c0123 a0006c0008 a0006c0017 a0008c0007 a0009c0013 a0009c0095 a0009c0137 a0009c0172 a0010c0009 a0011c0021 a0011c0109 a0011c0121 a0015c0036 a0015c0039 a0016c0020 a0016c0120 a0017c0012 a0019c0018 a0020c0023 a0021c0040 a0021c0133 a0022c0019 a0023c0038 a0023c0124 a0024c0022 a0025c0053 a0025c0107 a0026c0043 a0026c0145 a0027c0032 a0027c0102 a0028c0024 a0029c0175 a0029c0176 a0029c0187 a0030c0056 a0030c0174 a0031c0030 a0031c0090 a0032c0182 a0032c0184 a0032c0191 a0033c0060 a0033c0061 a0033c0063 a0034c0028 a0035c0073 a0035c0074 a0036c0029 a0037c0054 a0038c0055 a0040c0041 a0041c0034 a0042c0115 a0042c0128 a0043c0033 a0044c0105 a0044c0106 a0046c0140 a0046c0143 a0049c0031 a0050c0065 a0050c0066 a0051c0027 a0053c0188 a0054c0076 a0055c0072 a0056c0075 a0057c0070 a0058c0071 a0060c0078 a0061c0181 a0063c0180 a0064c0082 a0065c0069 a0066c0084 a0067c0083 a0068c0134 a0070c0167 a0071c0130 a0072c0131 a0073c0113 a0074c0126 a0075c0127 a0076c0119 a0077c0114 a0078c0122 a0079c0166 a0080c0125 a0081c0118 a0082c0116 a0083c0117 a0084c0111 a0085c0112 a0086c0110 a0087c0108 a0088c0129 a0089c0179 a0092c0104 a0093c0144 a0096c0103 a0102c0141 a0105c0190 a0106c0142 a0109c0139 a0111c0099 a0112c0094 a0113c0100 a0114c0101 a0115c0178 a0117c0098 a0118c0177 a0119c0096 a0120c0097 a0121c0169 a0122c0170 a0123c0088 a0124c0089 a0125c0171 a0126c0093 a0127c0092 a0128c0091 a0129c0087 a0130c0086 a0131c0085 a0132c0183 a0135c0185 a0136c0064 a0137c0062 a0138c0057 a0139c0058 a0140c0059 a0141c0067 a0142c0068 a0143c0189	a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 others(147): Show a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 a0003c0003t0001 a0003c0011t0001 a0003c0138t0001 a0005c0004t0001 a0005c0004t0006 a0005c0035t0001 a0005c0037t0001 a0005c0123t0001 a0006c0008t0001 a0006c0017t0001 a0008c0007t0001 a0009c0013t0001 a0009c0095t0001 a0009c0137t0001 a0009c0172t0001 a0010c0009t0001 a0010c0009t0002 a0011c0021t0001 a0011c0109t0001 a0011c0121t0001 a0015c0036t0005 a0015c0039t0001 a0016c0020t0001 a0016c0120t0001 a0017c0012t0001 a0019c0018t0001 a0020c0023t0001 a0021c0040t0001 a0021c0133t0001 a0022c0019t0001 a0023c0038t0001 a0023c0124t0001 a0024c0022t0001 a0025c0053t0002 a0025c0107t0015 a0026c0043t0001 a0026c0043t0008 a0026c0145t0001 a0027c0032t0001 a0027c0102t0001 a0028c0024t0001 a0029c0175t0003 a0029c0176t0003 a0029c0187t0003 a0030c0056t0001 a0030c0174t0010 a0031c0030t0001 a0031c0090t0001 a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0033c0060t0001 a0033c0061t0001 a0033c0063t0001 a0034c0028t0001 a0035c0073t0001 a0035c0074t0001 a0036c0029t0001 a0037c0054t0001 a0038c0055t0001 a0040c0041t0001 a0041c0034t0001 a0041c0034t0002 a0042c0115t0004 a0042c0128t0001 a0043c0033t0001 a0043c0033t0002 a0044c0105t0001 a0044c0106t0001 a0046c0140t0001 a0046c0143t0001 a0049c0031t0001 a0050c0065t0001 a0050c0066t0001 a0051c0027t0001 a0051c0027t0009 a0053c0188t0001 a0054c0076t0001 a0055c0072t0001 a0056c0075t0001 a0057c0070t0012 a0058c0071t0001 a0060c0078t0001 a0061c0181t0004 a0063c0180t0001 a0064c0082t0001 a0065c0069t0001 a0066c0084t0001 a0067c0083t0001 a0068c0134t0013 a0070c0167t0001 a0071c0130t0001 a0072c0131t0001 a0073c0113t0004 a0074c0126t0007 a0075c0127t0004 a0076c0119t0003 a0077c0114t0003 a0078c0122t0005 a0079c0166t0001 a0080c0125t0001 a0081c0118t0001 a0082c0116t0001 a0083c0117t0001 a0084c0111t0001 a0085c0112t0001 a0086c0110t0001 a0087c0108t0001 a0088c0129t0001 a0089c0179t0011 a0092c0104t0001 a0093c0144t0001 a0096c0103t0001 a0102c0141t0001 a0105c0190t0001 a0106c0142t0001 a0109c0139t0001 a0111c0099t0001 a0112c0094t0001 a0113c0100t0001 a0114c0101t0001 a0115c0178t0001 a0117c0098t0007 a0118c0177t0001 a0119c0096t0001 a0120c0097t0001 a0121c0169t0001 a0122c0170t0001 a0123c0088t0001 a0124c0089t0001 a0125c0171t0001 a0126c0093t0001 a0127c0092t0001 a0128c0091t0001 a0129c0087t0001 a0130c0086t0001 a0131c0085t0001 a0132c0183t0001 a0135c0185t0001 a0136c0064t0001 a0137c0062t0003 a0138c0057t0001 a0139c0058t0001 a0140c0059t0005 a0141c0067t0002 a0142c0068t0001 a0143c0189t0001	a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 others(247): Show a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0133 a0002c0001t0001g0136 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0180 a0002c0001t0001g0215 a0002c0001t0001g0223 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0254 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0325 a0002c0001t0001g0331 a0002c0001t0001g0334 a0002c0001t0001g0341 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0014g0054 a0002c0132t0001g0092 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0037 a0003c0003t0001g0049 a0003c0003t0001g0056 a0003c0003t0001g0065 a0003c0003t0001g0079 a0003c0003t0001g0137 a0003c0003t0001g0169 a0003c0003t0001g0183 a0003c0003t0001g0242 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0011t0001g0077 a0003c0011t0001g0078 a0003c0011t0001g0096 a0003c0011t0001g0100 a0003c0011t0001g0102 a0003c0011t0001g0305 a0003c0138t0001g0175 a0005c0004t0001g0057 a0005c0004t0001g0089 a0005c0004t0001g0235 a0005c0004t0001g0239 a0005c0004t0001g0240 a0005c0004t0001g0330 a0005c0004t0001g0340 a0005c0004t0006g0299 a0005c0004t0006g0300 a0005c0004t0006g0301 a0005c0035t0001g0191 a0005c0035t0001g0227 a0005c0037t0001g0192 a0005c0037t0001g0355 a0005c0123t0001g0158 a0006c0008t0001g0012 a0006c0008t0001g0024 a0006c0008t0001g0088 a0006c0008t0001g0111 a0006c0008t0001g0166 a0006c0008t0001g0250 a0006c0008t0001g0354 a0006c0017t0001g0093 a0006c0017t0001g0275 a0006c0017t0001g0276 a0008c0007t0001g0066 a0008c0007t0001g0139 a0008c0007t0001g0214 a0008c0007t0001g0259 a0008c0007t0001g0273 a0008c0007t0001g0289 a0008c0007t0001g0322 a0008c0007t0001g0351 a0009c0013t0001g0073 a0009c0013t0001g0307 a0009c0013t0001g0308 a0009c0013t0001g0353 a0009c0095t0001g0076 a0009c0137t0001g0281 a0009c0172t0001g0311 a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 a0010c0009t0002g0218 a0010c0009t0002g0219 a0010c0009t0002g0291 a0011c0021t0001g0003 a0011c0021t0001g0297 a0011c0109t0001g0153 a0011c0121t0001g0269 a0015c0036t0005g0216 a0015c0036t0005g0285 a0015c0039t0001g0113 a0015c0039t0001g0263 a0016c0020t0001g0005 a0016c0020t0001g0067 a0016c0120t0001g0345 a0017c0012t0001g0145 a0017c0012t0001g0146 a0017c0012t0001g0318 a0017c0012t0001g0346 a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 a0020c0023t0001g0196 a0020c0023t0001g0241 a0020c0023t0001g0284 a0021c0040t0001g0002 a0021c0133t0001g0161 a0022c0019t0001g0202 a0022c0019t0001g0204 a0022c0019t0001g0205 a0023c0038t0001g0046 a0023c0038t0001g0103 a0023c0124t0001g0257 a0024c0022t0001g0041 a0024c0022t0001g0112 a0024c0022t0001g0249 a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 a0026c0043t0001g0347 a0026c0043t0008g0294 a0026c0145t0001g0231 a0027c0032t0001g0220 a0027c0032t0001g0261 a0027c0102t0001g0020 a0028c0024t0001g0014 a0028c0024t0001g0149 a0028c0024t0001g0150 a0029c0175t0003g0251 a0029c0176t0003g0252 a0029c0187t0003g0083 a0030c0056t0001g0201 a0030c0056t0001g0258 a0030c0174t0010g0165 a0031c0030t0001g0337 a0031c0030t0001g0338 a0031c0090t0001g0179 a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0033c0060t0001g0209 a0033c0061t0001g0292 a0033c0063t0001g0210 a0034c0028t0001g0064 a0034c0028t0001g0194 a0035c0073t0001g0068 a0035c0074t0001g0356 a0036c0029t0001g0001 a0037c0054t0001g0313 a0037c0054t0001g0326 a0038c0055t0001g0043 a0038c0055t0001g0050 a0040c0041t0001g0316 a0040c0041t0001g0317 a0041c0034t0001g0229 a0041c0034t0002g0309 a0042c0115t0004g0047 a0042c0128t0001g0324 a0043c0033t0001g0157 a0043c0033t0002g0343 a0044c0105t0001g0141 a0044c0106t0001g0189 a0046c0140t0001g0342 a0046c0143t0001g0174 a0049c0031t0001g0082 a0049c0031t0001g0123 a0050c0065t0001g0007 a0050c0066t0001g0163 a0051c0027t0001g0010 a0051c0027t0009g0159 a0053c0188t0001g0357 a0054c0076t0001g0361 a0055c0072t0001g0283 a0056c0075t0001g0248 a0057c0070t0012g0228 a0058c0071t0001g0221 a0060c0078t0001g0085 a0061c0181t0004g0344 a0063c0180t0001g0359 a0064c0082t0001g0109 a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295 a0068c0134t0013g0280 a0070c0167t0001g0138 a0071c0130t0001g0176 a0072c0131t0001g0314 a0073c0113t0004g0011 a0074c0126t0007g0302 a0075c0127t0004g0206 a0076c0119t0003g0265 a0077c0114t0003g0208 a0078c0122t0005g0015 a0079c0166t0001g0244 a0080c0125t0001g0226 a0081c0118t0001g0274 a0082c0116t0001g0140 a0083c0117t0001g0238 a0084c0111t0001g0019 a0085c0112t0001g0160 a0086c0110t0001g0190 a0087c0108t0001g0045 a0088c0129t0001g0255 a0089c0179t0011g0162 a0092c0104t0001g0293 a0093c0144t0001g0018 a0096c0103t0001g0075 a0102c0141t0001g0278 a0105c0190t0001g0044 a0106c0142t0001g0315 a0109c0139t0001g0288 a0111c0099t0001g0151 a0112c0094t0001g0128 a0113c0100t0001g0017 a0114c0101t0001g0211 a0115c0178t0001g0286 a0117c0098t0007g0203 a0118c0177t0001g0154 a0119c0096t0001g0282 a0120c0097t0001g0016 a0121c0169t0001g0107 a0122c0170t0001g0256 a0123c0088t0001g0104 a0124c0089t0001g0061 a0125c0171t0001g0097 a0126c0093t0001g0118 a0127c0092t0001g0321 a0128c0091t0001g0074 a0129c0087t0001g0087 a0130c0086t0001g0327 a0131c0085t0001g0225 a0132c0183t0001g0328 a0135c0185t0001g0108 a0136c0064t0001g0296 a0137c0062t0003g0213 a0138c0057t0001g0290 a0139c0058t0001g0245 a0140c0059t0005g0298 a0141c0067t0002g0152 a0142c0068t0001g0207 a0143c0189t0001g0121	255	368	0.6929	c.529 others(4): Show c.5293A>G	p.Ile others(7): Show p.Ile1765Val	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5674/8960	5293/7707	1765/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857905	T T	G G	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0079 a0079	a0079c0166 a0079c0166	a0079c0166t0001 a0079c0166t0001	a0079c0166t0001g0244 a0079c0166t0001g0244	1	368	0.0027	c.532 others(4): Show c.5320T>G	p.Tyr others(7): Show p.Tyr1774Asp	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5701/8960	5320/7707	1774/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88857938	C C	G G	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0104 a0104	a0104c0156 a0104c0156	a0104c0156t0001 a0104c0156t0001	a0104c0156t0001g0081 a0104c0156t0001g0081	1	368	0.0027	c.535 others(4): Show c.5353C>G	p.Leu others(7): Show p.Leu1785Val	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5734/8960	5353/7707	1785/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858131	G G	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02258.hp2 NA19043.hp1 HG01243.hp1 HG02258.hp2 NA19043.hp1	a0065 a0066 a0067 a0065 a0066 a0067	a0065c0069 a0066c0084 a0067c0083 a0065c0069 a0066c0084 a0067c0083	a0065c0069t0001 a0066c0084t0001 a0067c0083t0001 a0065c0069t0001 a0066c0084t0001 a0067c0083t0001	a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295 a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295	3	368	0.0082	c.554 others(4): Show c.5546G>T	p.Gly others(7): Show p.Gly1849Val	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5927/8960	5546/7707	1849/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858148	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00609.hp1 HG00621.hp2 others(9): Show HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01928.hp1 NA18612.hp2 NA18747.hp1 NA18963.hp1 NA18969.hp2 NA18980.hp1 NA18986.hp2 NA19065.hp2	a0007 a0091 a0094 others(1): Show a0007 a0091 a0094 a0144	a0007c0006 a0091c0164 a0094c0161 others(1): Show a0007c0006 a0091c0164 a0094c0161 a0144c0193	a0007c0006t0001 a0091c0164t0001 a0094c0161t0001 others(1): Show a0007c0006t0001 a0091c0164t0001 a0094c0161t0001 a0144c0193t0001	a0007c0006t0001g0021 a0007c0006t0001g0127 a0007c0006t0001g0135 others(9): Show a0007c0006t0001g0021 a0007c0006t0001g0127 a0007c0006t0001g0135 a0007c0006t0001g0143 a0007c0006t0001g0178 a0007c0006t0001g0200 a0007c0006t0001g0234 a0007c0006t0001g0333 a0007c0006t0001g0335 a0091c0164t0001g0029 a0094c0161t0001g0040 a0144c0193t0001g0038	12	368	0.0326	c.556 others(4): Show c.5563C>T	p.Leu others(7): Show p.Leu1855Phe	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	5944/8960	5563/7707	1855/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858385	G G	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG03688.hp2 HG04184.hp2 others(5): Show HG00408.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18980.hp2 NA19005.hp2	a0032 a0038 a0060 others(2): Show a0032 a0038 a0060 a0132 a0143	a0032c0182 a0032c0184 a0032c0191 others(4): Show a0032c0182 a0032c0184 a0032c0191 a0038c0055 a0060c0078 a0132c0183 a0143c0189	a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 others(4): Show a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0038c0055t0001 a0060c0078t0001 a0132c0183t0001 a0143c0189t0001	a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 others(5): Show a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0038c0055t0001g0043 a0038c0055t0001g0050 a0060c0078t0001g0085 a0132c0183t0001g0328 a0143c0189t0001g0121	8	368	0.0217	c.580 others(4): Show c.5800G>C	p.Val others(7): Show p.Val1934Leu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6181/8960	5800/7707	1934/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858571	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0078 a0078	a0078c0122 a0078c0122	a0078c0122t0005 a0078c0122t0005	a0078c0122t0005g0015 a0078c0122t0005g0015	1	368	0.0027	c.598 others(4): Show c.5986G>A	p.Gly others(7): Show p.Gly1996Arg	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6367/8960	5986/7707	1996/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858583	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02258.hp2 NA19043.hp1 HG01243.hp1 HG02258.hp2 NA19043.hp1	a0065 a0066 a0067 a0065 a0066 a0067	a0065c0069 a0066c0084 a0067c0083 a0065c0069 a0066c0084 a0067c0083	a0065c0069t0001 a0066c0084t0001 a0067c0083t0001 a0065c0069t0001 a0066c0084t0001 a0067c0083t0001	a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295 a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295	3	368	0.0082	c.599 others(4): Show c.5998G>A	p.Gly others(7): Show p.Gly2000Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6379/8960	5998/7707	2000/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858598	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0139 a0139	a0139c0058 a0139c0058	a0139c0058t0001 a0139c0058t0001	a0139c0058t0001g0245 a0139c0058t0001g0245	1	368	0.0027	c.601 others(4): Show c.6013A>G	p.Ser others(7): Show p.Ser2005Gly	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6394/8960	6013/7707	2005/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858758	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02258.hp2 NA19043.hp1 HG01243.hp1 HG02258.hp2 NA19043.hp1	a0065 a0066 a0067 a0065 a0066 a0067	a0065c0069 a0066c0084 a0067c0083 a0065c0069 a0066c0084 a0067c0083	a0065c0069t0001 a0066c0084t0001 a0067c0083t0001 a0065c0069t0001 a0066c0084t0001 a0067c0083t0001	a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295 a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295	3	368	0.0082	c.617 others(4): Show c.6173C>T	p.Pro others(7): Show p.Pro2058Leu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6554/8960	6173/7707	2058/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858820	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(222): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0003 a0005 others(88): Show a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0028 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0038 a0040 a0041 a0042 a0043 a0045 a0047 a0050 a0051 a0053 a0054 a0055 a0056 a0057 a0058 a0060 a0061 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0091 a0094 a0095 a0115 a0119 a0120 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0136 a0137 a0138 a0139 a0140 a0142 a0143 a0144	a0002c0001 a0002c0132 a0003c0003 others(112): Show a0002c0001 a0002c0132 a0003c0003 a0003c0011 a0003c0138 a0005c0004 a0005c0035 a0005c0037 a0005c0123 a0006c0008 a0006c0017 a0007c0006 a0008c0007 a0011c0021 a0011c0109 a0011c0121 a0012c0048 a0012c0050 a0012c0136 a0015c0036 a0015c0039 a0016c0020 a0016c0120 a0017c0012 a0019c0018 a0020c0023 a0021c0040 a0021c0133 a0022c0019 a0023c0038 a0023c0124 a0024c0022 a0028c0024 a0030c0056 a0030c0174 a0031c0030 a0031c0090 a0032c0182 a0032c0184 a0032c0191 a0033c0060 a0033c0061 a0033c0063 a0034c0028 a0035c0073 a0035c0074 a0036c0029 a0038c0055 a0040c0041 a0041c0034 a0042c0115 a0042c0128 a0043c0033 a0045c0049 a0047c0047 a0050c0065 a0050c0066 a0051c0027 a0053c0188 a0054c0076 a0055c0072 a0056c0075 a0057c0070 a0058c0071 a0060c0078 a0061c0181 a0064c0082 a0065c0069 a0066c0084 a0067c0083 a0068c0134 a0069c0168 a0070c0167 a0071c0130 a0072c0131 a0073c0113 a0075c0127 a0076c0119 a0077c0114 a0078c0122 a0079c0166 a0080c0125 a0081c0118 a0082c0116 a0083c0117 a0084c0111 a0085c0112 a0086c0110 a0087c0108 a0088c0129 a0091c0164 a0094c0161 a0095c0162 a0115c0178 a0119c0096 a0120c0097 a0122c0170 a0123c0088 a0124c0089 a0125c0171 a0126c0093 a0127c0092 a0128c0091 a0129c0087 a0130c0086 a0131c0085 a0132c0183 a0136c0064 a0137c0062 a0138c0057 a0139c0058 a0140c0059 a0142c0068 a0143c0189 a0144c0193	a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 others(117): Show a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 a0003c0003t0001 a0003c0011t0001 a0003c0138t0001 a0005c0004t0001 a0005c0004t0006 a0005c0035t0001 a0005c0037t0001 a0005c0123t0001 a0006c0008t0001 a0006c0017t0001 a0007c0006t0001 a0008c0007t0001 a0011c0021t0001 a0011c0109t0001 a0011c0121t0001 a0012c0048t0001 a0012c0050t0001 a0012c0136t0001 a0015c0036t0005 a0015c0039t0001 a0016c0020t0001 a0016c0120t0001 a0017c0012t0001 a0019c0018t0001 a0020c0023t0001 a0021c0040t0001 a0021c0133t0001 a0022c0019t0001 a0023c0038t0001 a0023c0124t0001 a0024c0022t0001 a0028c0024t0001 a0030c0056t0001 a0030c0174t0010 a0031c0030t0001 a0031c0090t0001 a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0033c0060t0001 a0033c0061t0001 a0033c0063t0001 a0034c0028t0001 a0035c0073t0001 a0035c0074t0001 a0036c0029t0001 a0038c0055t0001 a0040c0041t0001 a0041c0034t0001 a0041c0034t0002 a0042c0115t0004 a0042c0128t0001 a0043c0033t0001 a0043c0033t0002 a0045c0049t0001 a0047c0047t0001 a0050c0065t0001 a0050c0066t0001 a0051c0027t0001 a0051c0027t0009 a0053c0188t0001 a0054c0076t0001 a0055c0072t0001 a0056c0075t0001 a0057c0070t0012 a0058c0071t0001 a0060c0078t0001 a0061c0181t0004 a0064c0082t0001 a0065c0069t0001 a0066c0084t0001 a0067c0083t0001 a0068c0134t0013 a0069c0168t0001 a0070c0167t0001 a0071c0130t0001 a0072c0131t0001 a0073c0113t0004 a0075c0127t0004 a0076c0119t0003 a0077c0114t0003 a0078c0122t0005 a0079c0166t0001 a0080c0125t0001 a0081c0118t0001 a0082c0116t0001 a0083c0117t0001 a0084c0111t0001 a0085c0112t0001 a0086c0110t0001 a0087c0108t0001 a0088c0129t0001 a0091c0164t0001 a0094c0161t0001 a0095c0162t0001 a0115c0178t0001 a0119c0096t0001 a0120c0097t0001 a0122c0170t0001 a0123c0088t0001 a0124c0089t0001 a0125c0171t0001 a0126c0093t0001 a0127c0092t0001 a0128c0091t0001 a0129c0087t0001 a0130c0086t0001 a0131c0085t0001 a0132c0183t0001 a0136c0064t0001 a0137c0062t0003 a0138c0057t0001 a0139c0058t0001 a0140c0059t0005 a0142c0068t0001 a0143c0189t0001 a0144c0193t0001	a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 others(218): Show a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0133 a0002c0001t0001g0136 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0180 a0002c0001t0001g0215 a0002c0001t0001g0223 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0254 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0325 a0002c0001t0001g0331 a0002c0001t0001g0334 a0002c0001t0001g0341 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0014g0054 a0002c0132t0001g0092 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0037 a0003c0003t0001g0049 a0003c0003t0001g0056 a0003c0003t0001g0065 a0003c0003t0001g0079 a0003c0003t0001g0137 a0003c0003t0001g0169 a0003c0003t0001g0183 a0003c0003t0001g0242 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0011t0001g0077 a0003c0011t0001g0078 a0003c0011t0001g0096 a0003c0011t0001g0100 a0003c0011t0001g0102 a0003c0011t0001g0305 a0003c0138t0001g0175 a0005c0004t0001g0057 a0005c0004t0001g0089 a0005c0004t0001g0235 a0005c0004t0001g0239 a0005c0004t0001g0240 a0005c0004t0001g0330 a0005c0004t0001g0340 a0005c0004t0006g0299 a0005c0004t0006g0300 a0005c0004t0006g0301 a0005c0035t0001g0191 a0005c0035t0001g0227 a0005c0037t0001g0192 a0005c0037t0001g0355 a0005c0123t0001g0158 a0006c0008t0001g0012 a0006c0008t0001g0024 a0006c0008t0001g0088 a0006c0008t0001g0111 a0006c0008t0001g0166 a0006c0008t0001g0250 a0006c0008t0001g0354 a0006c0017t0001g0093 a0006c0017t0001g0275 a0006c0017t0001g0276 a0007c0006t0001g0021 a0007c0006t0001g0127 a0007c0006t0001g0135 a0007c0006t0001g0143 a0007c0006t0001g0178 a0007c0006t0001g0200 a0007c0006t0001g0234 a0007c0006t0001g0333 a0007c0006t0001g0335 a0008c0007t0001g0066 a0008c0007t0001g0139 a0008c0007t0001g0214 a0008c0007t0001g0259 a0008c0007t0001g0273 a0008c0007t0001g0289 a0008c0007t0001g0322 a0008c0007t0001g0351 a0011c0021t0001g0003 a0011c0021t0001g0297 a0011c0109t0001g0153 a0011c0121t0001g0269 a0012c0048t0001g0072 a0012c0048t0001g0172 a0012c0050t0001g0126 a0012c0050t0001g0336 a0012c0136t0001g0099 a0015c0036t0005g0216 a0015c0036t0005g0285 a0015c0039t0001g0113 a0015c0039t0001g0263 a0016c0020t0001g0005 a0016c0020t0001g0067 a0016c0120t0001g0345 a0017c0012t0001g0145 a0017c0012t0001g0146 a0017c0012t0001g0318 a0017c0012t0001g0346 a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 a0020c0023t0001g0196 a0020c0023t0001g0241 a0020c0023t0001g0284 a0021c0040t0001g0002 a0021c0133t0001g0161 a0022c0019t0001g0202 a0022c0019t0001g0204 a0022c0019t0001g0205 a0023c0038t0001g0046 a0023c0038t0001g0103 a0023c0124t0001g0257 a0024c0022t0001g0041 a0024c0022t0001g0112 a0024c0022t0001g0249 a0028c0024t0001g0014 a0028c0024t0001g0149 a0028c0024t0001g0150 a0030c0056t0001g0201 a0030c0056t0001g0258 a0030c0174t0010g0165 a0031c0030t0001g0337 a0031c0030t0001g0338 a0031c0090t0001g0179 a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0033c0060t0001g0209 a0033c0061t0001g0292 a0033c0063t0001g0210 a0034c0028t0001g0064 a0034c0028t0001g0194 a0035c0073t0001g0068 a0035c0074t0001g0356 a0036c0029t0001g0001 a0038c0055t0001g0043 a0038c0055t0001g0050 a0040c0041t0001g0316 a0040c0041t0001g0317 a0041c0034t0001g0229 a0041c0034t0002g0309 a0042c0115t0004g0047 a0042c0128t0001g0324 a0043c0033t0001g0157 a0043c0033t0002g0343 a0045c0049t0001g0052 a0045c0049t0001g0053 a0047c0047t0001g0009 a0047c0047t0001g0195 a0050c0065t0001g0007 a0050c0066t0001g0163 a0051c0027t0001g0010 a0051c0027t0009g0159 a0053c0188t0001g0357 a0054c0076t0001g0361 a0055c0072t0001g0283 a0056c0075t0001g0248 a0057c0070t0012g0228 a0058c0071t0001g0221 a0060c0078t0001g0085 a0061c0181t0004g0344 a0064c0082t0001g0109 a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295 a0068c0134t0013g0280 a0069c0168t0001g0266 a0070c0167t0001g0138 a0071c0130t0001g0176 a0072c0131t0001g0314 a0073c0113t0004g0011 a0075c0127t0004g0206 a0076c0119t0003g0265 a0077c0114t0003g0208 a0078c0122t0005g0015 a0079c0166t0001g0244 a0080c0125t0001g0226 a0081c0118t0001g0274 a0082c0116t0001g0140 a0083c0117t0001g0238 a0084c0111t0001g0019 a0085c0112t0001g0160 a0086c0110t0001g0190 a0087c0108t0001g0045 a0088c0129t0001g0255 a0091c0164t0001g0029 a0094c0161t0001g0040 a0095c0162t0001g0039 a0115c0178t0001g0286 a0119c0096t0001g0282 a0120c0097t0001g0016 a0122c0170t0001g0256 a0123c0088t0001g0104 a0124c0089t0001g0061 a0125c0171t0001g0097 a0126c0093t0001g0118 a0127c0092t0001g0321 a0128c0091t0001g0074 a0129c0087t0001g0087 a0130c0086t0001g0327 a0131c0085t0001g0225 a0132c0183t0001g0328 a0136c0064t0001g0296 a0137c0062t0003g0213 a0138c0057t0001g0290 a0139c0058t0001g0245 a0140c0059t0005g0298 a0142c0068t0001g0207 a0143c0189t0001g0121 a0144c0193t0001g0038	225	368	0.6114	c.623 others(4): Show c.6235A>G	p.Ile others(7): Show p.Ile2079Val	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6616/8960	6235/7707	2079/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858945	C C	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02258.hp1 HG02559.hp1 others(5): Show HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02976.hp2 HG03225.hp2 HG04204.hp2 NA19030.hp1 NA19043.hp2	a0025 a0044 a0089 others(2): Show a0025 a0044 a0089 a0092 a0105	a0025c0053 a0025c0107 a0044c0105 others(4): Show a0025c0053 a0025c0107 a0044c0105 a0044c0106 a0089c0179 a0092c0104 a0105c0190	a0025c0053t0002 a0025c0107t0015 a0044c0105t0001 others(4): Show a0025c0053t0002 a0025c0107t0015 a0044c0105t0001 a0044c0106t0001 a0089c0179t0011 a0092c0104t0001 a0105c0190t0001	a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 others(5): Show a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 a0044c0105t0001g0141 a0044c0106t0001g0189 a0089c0179t0011g0162 a0092c0104t0001g0293 a0105c0190t0001g0044	8	368	0.0217	c.636 others(4): Show c.6360C>G	p.Ser others(7): Show p.Ser2120Arg	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6741/8960	6360/7707	2120/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88858997	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0136 a0136	a0136c0064 a0136c0064	a0136c0064t0001 a0136c0064t0001	a0136c0064t0001g0296 a0136c0064t0001g0296	1	368	0.0027	c.641 others(4): Show c.6412G>A	p.Glu others(7): Show p.Glu2138Lys	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6793/8960	6412/7707	2138/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88859046	T T	C C	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0103 a0103	a0103c0154 a0103c0154	a0103c0154t0001 a0103c0154t0001	a0103c0154t0001g0030 a0103c0154t0001g0030	1	368	0.0027	c.646 others(4): Show c.6461T>C	p.Leu others(7): Show p.Leu2154Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6842/8960	6461/7707	2154/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88859091	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02615.hp1 HG02717.hp2 others(4): Show HG02109.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG03540.hp2 NA18906.hp2	a0017 a0051 a0085 a0017 a0051 a0085	a0017c0012 a0051c0027 a0085c0112 a0017c0012 a0051c0027 a0085c0112	a0017c0012t0001 a0051c0027t0001 a0051c0027t0009 others(1): Show a0017c0012t0001 a0051c0027t0001 a0051c0027t0009 a0085c0112t0001	a0017c0012t0001g0145 a0017c0012t0001g0146 a0017c0012t0001g0318 others(4): Show a0017c0012t0001g0145 a0017c0012t0001g0146 a0017c0012t0001g0318 a0017c0012t0001g0346 a0051c0027t0001g0010 a0051c0027t0009g0159 a0085c0112t0001g0160	7	368	0.0190	c.650 others(4): Show c.6506G>A	p.Gly others(7): Show p.Gly2169Glu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	6887/8960	6506/7707	2169/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88871481	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0089 a0089	a0089c0179 a0089c0179	a0089c0179t0011 a0089c0179t0011	a0089c0179t0011g0162 a0089c0179t0011g0162	1	368	0.0027	c.716 others(4): Show c.7160G>A	p.Arg others(7): Show p.Arg2387Gln	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	15/19	7541/8960	7160/7707	2387/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88872016	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00639.hp2 HG00642.hp2 others(45): Show HG00140.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01952.hp1 HG02055.hp2 HG02683.hp1 HG02723.hp1 HG03453.hp1 HG03486.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG06807.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18970.hp1 NA18972.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0002 a0019 a0020 others(11): Show a0002 a0019 a0020 a0029 a0036 a0047 a0064 a0069 a0070 a0071 a0072 a0076 a0077 a0137	a0002c0001 a0002c0132 a0019c0018 others(14): Show a0002c0001 a0002c0132 a0019c0018 a0020c0023 a0029c0175 a0029c0176 a0029c0187 a0036c0029 a0047c0047 a0064c0082 a0069c0168 a0070c0167 a0071c0130 a0072c0131 a0076c0119 a0077c0114 a0137c0062	a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 others(15): Show a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 a0019c0018t0001 a0020c0023t0001 a0029c0175t0003 a0029c0176t0003 a0029c0187t0003 a0036c0029t0001 a0047c0047t0001 a0064c0082t0001 a0069c0168t0001 a0070c0167t0001 a0071c0130t0001 a0072c0131t0001 a0076c0119t0003 a0077c0114t0003 a0137c0062t0003	a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 others(44): Show a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0133 a0002c0001t0001g0136 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0180 a0002c0001t0001g0215 a0002c0001t0001g0223 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0254 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0325 a0002c0001t0001g0331 a0002c0001t0001g0334 a0002c0001t0001g0341 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0014g0054 a0002c0132t0001g0092 a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 a0020c0023t0001g0196 a0020c0023t0001g0241 a0020c0023t0001g0284 a0029c0175t0003g0251 a0029c0176t0003g0252 a0029c0187t0003g0083 a0036c0029t0001g0001 a0047c0047t0001g0009 a0047c0047t0001g0195 a0064c0082t0001g0109 a0069c0168t0001g0266 a0070c0167t0001g0138 a0071c0130t0001g0176 a0072c0131t0001g0314 a0076c0119t0003g0265 a0077c0114t0003g0208 a0137c0062t0003g0213	48	368	0.1304	c.723 others(4): Show c.7233C>G	p.Asp others(7): Show p.Asp2411Glu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	16/19	7614/8960	7233/7707	2411/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88873925	C C	T T	missense_variant missense_variant	MODERATE	NA19066.hp2 NA19066.hp2	a0128 a0128	a0128c0091 a0128c0091	a0128c0091t0001 a0128c0091t0001	a0128c0091t0001g0074 a0128c0091t0001g0074	1	368	0.0027	c.753 others(4): Show c.7531C>T	p.Arg others(7): Show p.Arg2511Trp	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	18/19	7912/8960	7531/7707	2511/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88874007	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(151): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0004 a0006 a0009 others(68): Show a0004 a0006 a0009 a0010 a0011 a0015 a0017 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0030 a0031 a0032 a0033 a0034 a0037 a0038 a0040 a0041 a0043 a0044 a0045 a0046 a0048 a0050 a0051 a0054 a0058 a0059 a0060 a0065 a0066 a0067 a0068 a0074 a0078 a0084 a0085 a0086 a0088 a0089 a0090 a0092 a0093 a0094 a0096 a0099 a0102 a0103 a0105 a0107 a0109 a0112 a0114 a0115 a0117 a0118 a0120 a0130 a0135 a0136 a0139 a0140 a0141 a0142 a0143 a0144	a0004c0005 a0004c0010 a0004c0135 others(93): Show a0004c0005 a0004c0010 a0004c0135 a0004c0155 a0004c0186 a0006c0008 a0006c0017 a0009c0013 a0009c0095 a0009c0137 a0009c0172 a0010c0009 a0011c0021 a0011c0109 a0011c0121 a0015c0036 a0015c0039 a0017c0012 a0021c0040 a0021c0133 a0022c0019 a0023c0038 a0023c0124 a0025c0053 a0025c0107 a0026c0043 a0026c0145 a0027c0032 a0027c0102 a0028c0024 a0030c0056 a0030c0174 a0031c0030 a0031c0090 a0032c0182 a0032c0184 a0032c0191 a0033c0060 a0033c0061 a0033c0063 a0034c0028 a0037c0054 a0038c0055 a0040c0041 a0041c0034 a0043c0033 a0044c0105 a0044c0106 a0045c0049 a0046c0140 a0046c0143 a0048c0046 a0050c0065 a0050c0066 a0051c0027 a0054c0076 a0058c0071 a0059c0077 a0060c0078 a0065c0069 a0066c0084 a0067c0083 a0068c0134 a0074c0126 a0078c0122 a0084c0111 a0085c0112 a0086c0110 a0088c0129 a0089c0179 a0090c0163 a0092c0104 a0093c0144 a0094c0161 a0096c0103 a0099c0148 a0102c0141 a0103c0154 a0105c0190 a0107c0152 a0109c0139 a0112c0094 a0114c0101 a0115c0178 a0117c0098 a0118c0177 a0120c0097 a0130c0086 a0135c0185 a0136c0064 a0139c0058 a0140c0059 a0141c0067 a0142c0068 a0143c0189 a0144c0193	a0004c0005t0001 a0004c0010t0001 a0004c0135t0001 others(98): Show a0004c0005t0001 a0004c0010t0001 a0004c0135t0001 a0004c0155t0001 a0004c0186t0001 a0006c0008t0001 a0006c0017t0001 a0009c0013t0001 a0009c0095t0001 a0009c0137t0001 a0009c0172t0001 a0010c0009t0001 a0010c0009t0002 a0011c0021t0001 a0011c0109t0001 a0011c0121t0001 a0015c0036t0005 a0015c0039t0001 a0017c0012t0001 a0021c0040t0001 a0021c0133t0001 a0022c0019t0001 a0023c0038t0001 a0023c0124t0001 a0025c0053t0002 a0025c0107t0015 a0026c0043t0001 a0026c0043t0008 a0026c0145t0001 a0027c0032t0001 a0027c0102t0001 a0028c0024t0001 a0030c0056t0001 a0030c0174t0010 a0031c0030t0001 a0031c0090t0001 a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0033c0060t0001 a0033c0061t0001 a0033c0063t0001 a0034c0028t0001 a0037c0054t0001 a0038c0055t0001 a0040c0041t0001 a0041c0034t0001 a0041c0034t0002 a0043c0033t0001 a0043c0033t0002 a0044c0105t0001 a0044c0106t0001 a0045c0049t0001 a0046c0140t0001 a0046c0143t0001 a0048c0046t0001 a0050c0065t0001 a0050c0066t0001 a0051c0027t0001 a0051c0027t0009 a0054c0076t0001 a0058c0071t0001 a0059c0077t0001 a0060c0078t0001 a0065c0069t0001 a0066c0084t0001 a0067c0083t0001 a0068c0134t0013 a0074c0126t0007 a0078c0122t0005 a0084c0111t0001 a0085c0112t0001 a0086c0110t0001 a0088c0129t0001 a0089c0179t0011 a0090c0163t0001 a0092c0104t0001 a0093c0144t0001 a0094c0161t0001 a0096c0103t0001 a0099c0148t0001 a0102c0141t0001 a0103c0154t0001 a0105c0190t0001 a0107c0152t0001 a0109c0139t0001 a0112c0094t0001 a0114c0101t0001 a0115c0178t0001 a0117c0098t0007 a0118c0177t0001 a0120c0097t0001 a0130c0086t0001 a0135c0185t0001 a0136c0064t0001 a0139c0058t0001 a0140c0059t0005 a0141c0067t0002 a0142c0068t0001 a0143c0189t0001 a0144c0193t0001	a0004c0005t0001g0025 a0004c0005t0001g0028 a0004c0005t0001g0034 others(148): Show a0004c0005t0001g0025 a0004c0005t0001g0028 a0004c0005t0001g0034 a0004c0005t0001g0062 a0004c0005t0001g0071 a0004c0005t0001g0119 a0004c0005t0001g0122 a0004c0005t0001g0193 a0004c0005t0001g0287 a0004c0005t0001g0329 a0004c0010t0001g0035 a0004c0010t0001g0084 a0004c0010t0001g0134 a0004c0010t0001g0144 a0004c0010t0001g0253 a0004c0010t0001g0260 a0004c0135t0001g0070 a0004c0155t0001g0036 a0004c0186t0001g0090 a0006c0008t0001g0012 a0006c0008t0001g0024 a0006c0008t0001g0088 a0006c0008t0001g0111 a0006c0008t0001g0166 a0006c0008t0001g0250 a0006c0008t0001g0354 a0006c0017t0001g0093 a0006c0017t0001g0275 a0006c0017t0001g0276 a0009c0013t0001g0073 a0009c0013t0001g0307 a0009c0013t0001g0308 a0009c0013t0001g0353 a0009c0095t0001g0076 a0009c0137t0001g0281 a0009c0172t0001g0311 a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 a0010c0009t0002g0218 a0010c0009t0002g0219 a0010c0009t0002g0291 a0011c0021t0001g0003 a0011c0021t0001g0297 a0011c0109t0001g0153 a0011c0121t0001g0269 a0015c0036t0005g0216 a0015c0036t0005g0285 a0015c0039t0001g0113 a0015c0039t0001g0263 a0017c0012t0001g0145 a0017c0012t0001g0146 a0017c0012t0001g0318 a0017c0012t0001g0346 a0021c0040t0001g0002 a0021c0133t0001g0161 a0022c0019t0001g0202 a0022c0019t0001g0204 a0022c0019t0001g0205 a0023c0038t0001g0046 a0023c0038t0001g0103 a0023c0124t0001g0257 a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 a0026c0043t0001g0347 a0026c0043t0008g0294 a0026c0145t0001g0231 a0027c0032t0001g0220 a0027c0032t0001g0261 a0027c0102t0001g0020 a0028c0024t0001g0014 a0028c0024t0001g0149 a0028c0024t0001g0150 a0030c0056t0001g0201 a0030c0056t0001g0258 a0030c0174t0010g0165 a0031c0030t0001g0337 a0031c0030t0001g0338 a0031c0090t0001g0179 a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0033c0060t0001g0209 a0033c0061t0001g0292 a0033c0063t0001g0210 a0034c0028t0001g0064 a0034c0028t0001g0194 a0037c0054t0001g0313 a0037c0054t0001g0326 a0038c0055t0001g0043 a0038c0055t0001g0050 a0040c0041t0001g0316 a0040c0041t0001g0317 a0041c0034t0001g0229 a0041c0034t0002g0309 a0043c0033t0001g0157 a0043c0033t0002g0343 a0044c0105t0001g0141 a0044c0106t0001g0189 a0045c0049t0001g0052 a0045c0049t0001g0053 a0046c0140t0001g0342 a0046c0143t0001g0174 a0048c0046t0001g0032 a0048c0046t0001g0110 a0050c0065t0001g0007 a0050c0066t0001g0163 a0051c0027t0001g0010 a0051c0027t0009g0159 a0054c0076t0001g0361 a0058c0071t0001g0221 a0059c0077t0001g0362 a0060c0078t0001g0085 a0065c0069t0001g0156 a0066c0084t0001g0155 a0067c0083t0001g0295 a0068c0134t0013g0280 a0074c0126t0007g0302 a0078c0122t0005g0015 a0084c0111t0001g0019 a0085c0112t0001g0160 a0086c0110t0001g0190 a0088c0129t0001g0255 a0089c0179t0011g0162 a0090c0163t0001g0094 a0092c0104t0001g0293 a0093c0144t0001g0018 a0094c0161t0001g0040 a0096c0103t0001g0075 a0099c0148t0001g0339 a0102c0141t0001g0278 a0103c0154t0001g0030 a0105c0190t0001g0044 a0107c0152t0001g0185 a0109c0139t0001g0288 a0112c0094t0001g0128 a0114c0101t0001g0211 a0115c0178t0001g0286 a0117c0098t0007g0203 a0118c0177t0001g0154 a0120c0097t0001g0016 a0130c0086t0001g0327 a0135c0185t0001g0108 a0136c0064t0001g0296 a0139c0058t0001g0245 a0140c0059t0005g0298 a0141c0067t0002g0152 a0142c0068t0001g0207 a0143c0189t0001g0121 a0144c0193t0001g0038	154	368	0.4185	c.761 others(4): Show c.7613A>G	p.Gln others(7): Show p.Gln2538Arg	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	18/19	7994/8960	7613/7707	2538/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88874024	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02273.hp2 HG02273.hp2	a0080 a0080	a0080c0125 a0080c0125	a0080c0125t0001 a0080c0125t0001	a0080c0125t0001g0226 a0080c0125t0001g0226	1	368	0.0027	c.763 others(4): Show c.7630C>T	p.Pro others(7): Show p.Pro2544Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	18/19	8011/8960	7630/7707	2544/2568	chr15	TogoVar
ACAP1_chr17_7331529_7356477	7342020	G G	A A	missense_variant missense_variant	MODERATE	NA18943.hp1 NA19007.hp1 NA18943.hp1 NA19007.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0003	2	446	0.0045	c.184 others(3): Show c.184G>A	p.Gly others(5): Show p.Gly62Ser	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	3/22	390/2511	184/2223	62/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7342038	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02965.hp2 HG02976.hp1 others(2): Show HG02451.hp1 HG02965.hp2 HG02976.hp1 HG03486.hp2 NA19240.hp1	a0003 a0003	a0003c0005 a0003c0009 a0003c0005 a0003c0009	a0003c0005t0002 a0003c0009t0002 a0003c0005t0002 a0003c0009t0002	a0003c0005t0002g0004 a0003c0009t0002g0045 a0003c0005t0002g0004 a0003c0009t0002g0045	5	446	0.0112	c.202 others(3): Show c.202C>T	p.Arg others(5): Show p.Arg68Cys	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	3/22	408/2511	202/2223	68/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7343387	G G	A A	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19086.hp1 NA19066.hp1 NA19086.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0019 a0004c0007t0002g0019	2	446	0.0045	c.353 others(3): Show c.353G>A	p.Arg others(6): Show p.Arg118Gln	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	6/22	559/2511	353/2223	118/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7343444	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0163 a0010c0013t0001g0163	1	446	0.0022	c.410 others(3): Show c.410C>T	p.Ala others(6): Show p.Ala137Val	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	6/22	616/2511	410/2223	137/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7344634	T T	A A	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0095 a0009c0010t0001g0095	1	446	0.0022	c.840 others(3): Show c.840T>A	p.Phe others(6): Show p.Phe280Leu	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	10/22	1046/2511	840/2223	280/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7344636	A A	G G	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0095 a0009c0010t0001g0095	1	446	0.0022	c.842 others(3): Show c.842A>G	p.Lys others(6): Show p.Lys281Arg	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	10/22	1048/2511	842/2223	281/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7346401	C C	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0122 a0006c0014t0001g0122	1	446	0.0022	c.917 others(3): Show c.917C>A	p.Thr others(6): Show p.Thr306Asn	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	12/22	1123/2511	917/2223	306/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7347170	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0012 a0007c0015t0001g0012	1	446	0.0022	c.127 others(4): Show c.1271G>A	p.Arg others(6): Show p.Arg424Gln	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	14/22	1477/2511	1271/2223	424/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7348394	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0138 a0008c0011t0001g0138	1	446	0.0022	c.159 others(4): Show c.1597C>T	p.Arg others(6): Show p.Arg533Trp	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	17/22	1803/2511	1597/2223	533/740	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7350996	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02300.hp2 HG02683.hp2 others(8): Show HG02040.hp2 HG02300.hp2 HG02683.hp2 HG03098.hp2 HG03239.hp1 HG03688.hp1 HG03927.hp2 NA19063.hp1 NA19066.hp1 NA19086.hp1 NA20805.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0007 a0002c0004 a0004c0007	a0002c0004t0001 a0002c0004t0002 a0004c0007t0002 a0002c0004t0001 a0002c0004t0002 a0004c0007t0002	a0002c0004t0001g0019 a0002c0004t0001g0195 a0002c0004t0001g0198 others(6): Show a0002c0004t0001g0019 a0002c0004t0001g0195 a0002c0004t0001g0198 a0002c0004t0001g0199 a0002c0004t0001g0203 a0002c0004t0002g0014 a0002c0004t0002g0070 a0002c0004t0002g0127 a0004c0007t0002g0019	11	446	0.0247	c.211 others(4): Show c.2119G>A	p.Ala others(6): Show p.Ala707Thr	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	21/22	2325/2511	2119/2223	707/740	chr17	TogoVar
ACAP2_chr3_195269745_195448020	195320777	C C	T T	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0194 a0002c0005t0005g0194	1	324	0.0031	c.781 others(3): Show c.781G>A	p.Val others(6): Show p.Val261Ile	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	10/23	954/7093	781/2337	261/778	chr3	TogoVar
ACAP3_chr1_1287391_1312930	1293649	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0140 a0006c0014t0002g0140	1	295	0.0034	c.242 others(4): Show c.2420C>T	p.Pro others(6): Show p.Pro807Leu	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	24/24	2535/3793	2420/2505	807/834	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1293695	G G	C C	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0006 a0005c0018t0006	a0005c0018t0006g0078 a0005c0018t0006g0078	1	295	0.0034	c.237 others(4): Show c.2374C>G	p.Arg others(6): Show p.Arg792Gly	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	24/24	2489/3793	2374/2505	792/834	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1294587	C C	T T	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0083 a0007c0017t0001g0083	1	295	0.0034	c.195 others(4): Show c.1954G>A	p.Asp others(6): Show p.Asp652Asn	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	21/24	2069/3793	1954/2505	652/834	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1295900	T T	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02886.hp1 HG02897.hp2 HG02622.hp2 HG02886.hp1 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0211 a0003c0004t0001g0215 a0003c0004t0001g0216	3	295	0.0102	c.154 others(4): Show c.1541A>T	p.Glu others(6): Show p.Glu514Val	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	18/24	1656/3793	1541/2505	514/834	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1298655	C C	T T	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0124 a0004c0009t0003g0124	1	295	0.0034	c.775 others(3): Show c.775G>A	p.Val others(6): Show p.Val259Met	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	11/24	890/3793	775/2505	259/834	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1303203	G G	A A	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01261.hp1 HG01975.hp2 HG01192.hp1 HG01261.hp1 HG01975.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0098 a0002c0006t0005g0099 a0002c0006t0005g0208 a0002c0006t0005g0098 a0002c0006t0005g0099 a0002c0006t0005g0208	3	295	0.0102	c.184 others(3): Show c.184C>T	p.Arg others(5): Show p.Arg62Cys	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	3/24	299/3793	184/2505	62/834	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1307785	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0035 a0008c0008t0001g0035	1	295	0.0034	c.31G others(2): Show c.31G>A	p.Asp others(5): Show p.Asp11Asn	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	1/24	146/3793	31/2505	11/834	chr1	TogoVar
ACAT1_chr11_108116567_108152603	108121619	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(130): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 others(113): Show a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0007g0055 a0002c0002t0007g0056 a0002c0002t0007g0057 a0002c0002t0007g0058	133	386	0.3446	c.13G others(2): Show c.13G>C	p.Ala others(4): Show p.Ala5Pro	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/12	53/1537	13/1284	5/427	chr11	TogoVar

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