Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ACADM_chr1_75719709_75768679	75733627	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0352 a0003c0007t0002g0352	1	364	0.0028	c.386 others(3): Show c.386G>C	p.Gly others(6): Show p.Gly129Ala	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	5/12	465/2261	386/1266	129/421	chr1	TogoVar
ACADM_chr1_75719709_75768679	75734858	A A	C C	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0016 a0004c0011t0001g0016	1	364	0.0028	c.455 others(3): Show c.455A>C	p.Glu others(6): Show p.Glu152Ala	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/12	534/2261	455/1266	152/421	chr1	TogoVar
ACADM_chr1_75719709_75768679	75745872	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0251 a0006c0008t0001g0251	1	364	0.0028	c.666 others(3): Show c.666C>A	p.Phe others(6): Show p.Phe222Leu	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	8/12	745/2261	666/1266	222/421	chr1	TogoVar
ACADM_chr1_75719709_75768679	75761261	G G	A A	missense_variant missense_variant	MODERATE	NA19066.hp2 NA19066.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0176 a0005c0010t0002g0176	1	364	0.0028	c.108 others(4): Show c.1085G>A	p.Gly others(6): Show p.Gly362Glu	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	11/12	1164/2261	1085/1266	362/421	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123009067	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00639.hp2 others(76): Show HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03704.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19066.hp1 NA19078.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0010 a0003c0004 a0002c0003 a0002c0010 a0003c0004	a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 others(16): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0023 a0002c0003t0034 a0002c0003t0035 a0002c0003t0037 a0002c0003t0038 a0002c0003t0040 a0002c0003t0041 a0002c0003t0042 a0002c0003t0052 a0002c0003t0056 a0002c0010t0001 a0003c0004t0006 a0003c0004t0014 a0003c0004t0030 a0003c0004t0044	a0002c0003t0001g0007 a0002c0003t0001g0027 a0002c0003t0001g0028 others(58): Show a0002c0003t0001g0007 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0151 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0192 a0002c0003t0003g0001 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0141 a0002c0003t0003g0145 a0002c0003t0003g0147 a0002c0003t0003g0150 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0156 a0002c0003t0003g0160 a0002c0003t0003g0161 a0002c0003t0003g0163 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0174 a0002c0003t0003g0176 a0002c0003t0003g0178 a0002c0003t0003g0182 a0002c0003t0011g0142 a0002c0003t0011g0143 a0002c0003t0019g0001 a0002c0003t0019g0164 a0002c0003t0023g0029 a0002c0003t0034g0179 a0002c0003t0035g0171 a0002c0003t0037g0155 a0002c0003t0038g0149 a0002c0003t0040g0170 a0002c0003t0041g0177 a0002c0003t0042g0159 a0002c0003t0052g0175 a0002c0003t0056g0162 a0002c0010t0001g0148 a0003c0004t0006g0146 a0003c0004t0006g0157 a0003c0004t0006g0158 a0003c0004t0006g0180 a0003c0004t0006g0181 a0003c0004t0006g0186 a0003c0004t0006g0189 a0003c0004t0006g0190 a0003c0004t0006g0191 a0003c0004t0014g0183 a0003c0004t0014g0184 a0003c0004t0030g0185 a0003c0004t0044g0144	79	374	0.2112	c.38G others(2): Show c.38G>A	p.Arg others(5): Show p.Arg13Lys	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	1/11	62/5848	38/1299	13/432	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123034405	A A	G G	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02300.hp1 NA18940.hp2 others(2): Show HG02273.hp1 HG02300.hp1 NA18940.hp2 NA18966.hp2 NA19068.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0004 a0005c0005t0002g0014 a0005c0005t0002g0062 others(2): Show a0005c0005t0002g0004 a0005c0005t0002g0014 a0005c0005t0002g0062 a0005c0005t0002g0071 a0005c0005t0002g0072	5	374	0.0134	c.92A others(2): Show c.92A>G	p.His others(5): Show p.His31Arg	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	2/11	116/5848	92/1299	31/432	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123043089	C C	T T	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0260 a0007c0014t0001g0260	1	374	0.0027	c.725 others(3): Show c.725C>T	p.Pro others(6): Show p.Pro242Leu	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	6/11	749/5848	725/1299	242/432	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123047245	A A	C C	missense_variant missense_variant	MODERATE	NA18747.hp2 NA18747.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0218 a0008c0013t0001g0218	1	374	0.0027	c.937 others(3): Show c.937A>C	p.Ile others(6): Show p.Ile313Leu	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	8/11	961/5848	937/1299	313/432	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123047254	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00642.hp1 HG00733.hp1 others(15): Show HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02738.hp2 HG03130.hp2 HG03139.hp2 HG04184.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0007 a0004c0012 others(1): Show a0003c0004 a0004c0007 a0004c0012 a0004c0016	a0003c0004t0006 a0003c0004t0014 a0003c0004t0030 others(4): Show a0003c0004t0006 a0003c0004t0014 a0003c0004t0030 a0003c0004t0044 a0004c0007t0006 a0004c0012t0005 a0004c0016t0032	a0003c0004t0006g0146 a0003c0004t0006g0157 a0003c0004t0006g0158 others(15): Show a0003c0004t0006g0146 a0003c0004t0006g0157 a0003c0004t0006g0158 a0003c0004t0006g0180 a0003c0004t0006g0181 a0003c0004t0006g0186 a0003c0004t0006g0189 a0003c0004t0006g0190 a0003c0004t0006g0191 a0003c0004t0014g0183 a0003c0004t0014g0184 a0003c0004t0030g0185 a0003c0004t0044g0144 a0004c0007t0006g0099 a0004c0007t0006g0241 a0004c0007t0006g0288 a0004c0012t0005g0107 a0004c0016t0032g0234	18	374	0.0481	c.946 others(3): Show c.946A>G	p.Ile others(6): Show p.Ile316Val	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	8/11	970/5848	946/1299	316/432	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123053091	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0030 a0006c0008t0005g0030	2	374	0.0054	c.115 others(4): Show c.1159G>A	p.Glu others(6): Show p.Glu387Lys	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	10/11	1183/5848	1159/1299	387/432	chr10	TogoVar
ACADS_chr12_120720826_120745008	120725896	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0175 a0005c0008t0005g0177 a0005c0008t0005g0175 a0005c0008t0005g0177	2	426	0.0047	c.11C others(2): Show c.11C>A	p.Ala others(4): Show p.Ala4Glu	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	1/10	71/1859	11/1239	4/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120737408	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0206 a0010c0017t0002g0206	1	426	0.0024	c.413 others(3): Show c.413C>T	p.Ala others(6): Show p.Ala138Val	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	4/10	473/1859	413/1239	138/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120737873	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0042 a0009c0016t0001g0042	1	426	0.0024	c.509 others(3): Show c.509C>T	p.Ala others(6): Show p.Ala170Val	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	5/10	569/1859	509/1239	170/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120737875	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00735.hp1 HG01516.hp2 HG00642.hp1 HG00735.hp1 HG01516.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0004 a0003c0007t0001g0139 a0003c0007t0001g0147 a0003c0007t0001g0004 a0003c0007t0001g0139 a0003c0007t0001g0147	3	426	0.0070	c.511 others(3): Show c.511C>T	p.Arg others(6): Show p.Arg171Trp	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	5/10	571/1859	511/1239	171/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120737893	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 NA19030.hp2 HG03453.hp1 NA19030.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0026 a0004c0009t0001g0107 a0004c0009t0001g0026 a0004c0009t0001g0107	2	426	0.0047	c.529 others(3): Show c.529T>C	p.Trp others(6): Show p.Trp177Arg	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	5/10	589/1859	529/1239	177/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120738280	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00438.hp2 HG00639.hp1 others(55): Show HG00140.hp1 HG00438.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02683.hp2 HG02723.hp2 HG03098.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18975.hp1 NA18982.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19077.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0002c0010 a0002c0015 others(1): Show a0002c0004 a0002c0010 a0002c0015 a0010c0017	a0002c0004t0002 a0002c0010t0002 a0002c0015t0002 others(1): Show a0002c0004t0002 a0002c0010t0002 a0002c0015t0002 a0010c0017t0002	a0002c0004t0002g0003 a0002c0004t0002g0007 a0002c0004t0002g0012 others(36): Show a0002c0004t0002g0003 a0002c0004t0002g0007 a0002c0004t0002g0012 a0002c0004t0002g0048 a0002c0004t0002g0049 a0002c0004t0002g0050 a0002c0004t0002g0065 a0002c0004t0002g0108 a0002c0004t0002g0119 a0002c0004t0002g0120 a0002c0004t0002g0121 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0124 a0002c0004t0002g0128 a0002c0004t0002g0174 a0002c0004t0002g0198 a0002c0004t0002g0199 a0002c0004t0002g0200 a0002c0004t0002g0201 a0002c0004t0002g0202 a0002c0004t0002g0204 a0002c0004t0002g0205 a0002c0004t0002g0207 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0210 a0002c0004t0002g0211 a0002c0004t0002g0212 a0002c0004t0002g0213 a0002c0004t0002g0214 a0002c0004t0002g0215 a0002c0004t0002g0219 a0002c0004t0002g0220 a0002c0004t0002g0221 a0002c0004t0002g0261 a0002c0010t0002g0003 a0002c0015t0002g0048 a0010c0017t0002g0206	58	426	0.1362	c.625 others(3): Show c.625G>A	p.Gly others(6): Show p.Gly209Ser	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	6/10	685/1859	625/1239	209/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120738373	A A	C C	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0008 a0006c0014t0001g0008	1	426	0.0024	c.718 others(3): Show c.718A>C	p.Asn others(6): Show p.Asn240His	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	6/10	778/1859	718/1239	240/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120739188	A A	G G	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0005 a0007c0020t0005	a0007c0020t0005g0188 a0007c0020t0005g0188	1	426	0.0024	c.107 others(4): Show c.1078A>G	p.Ser others(6): Show p.Ser360Gly	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	9/10	1138/1859	1078/1239	360/412	chr12	TogoVar
ACADS_chr12_120720826_120745008	120739317	A A	G G	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0167 a0008c0018t0001g0167	1	426	0.0024	c.110 others(4): Show c.1108A>G	p.Met others(6): Show p.Met370Val	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	10/10	1168/1859	1108/1239	370/412	chr12	TogoVar
ACADVL_chr17_7214938_7230266	7220033	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02280.hp2 HG02647.hp2 others(5): Show HG01884.hp2 HG02280.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0015 a0004c0005 a0007c0015	a0004c0005t0001 a0007c0015t0001 a0004c0005t0001 a0007c0015t0001	a0004c0005t0001g0007 a0007c0015t0001g0027 a0004c0005t0001g0007 a0007c0015t0001g0027	8	398	0.0201	c.49C others(2): Show c.49C>T	p.Leu others(5): Show p.Leu17Phe	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	1/20	96/2184	49/1968	17/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7220187	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00609.hp2 HG00621.hp1 others(39): Show HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG01361.hp2 HG01496.hp2 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19004.hp1 NA19012.hp2 NA19057.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0015 a0002c0002 a0007c0015	a0002c0002t0001 a0002c0002t0002 a0007c0015t0001 a0002c0002t0001 a0002c0002t0002 a0007c0015t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0002g0003 others(1): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0002g0003 a0007c0015t0001g0027	42	398	0.1055	c.128 others(3): Show c.128G>A	p.Gly others(5): Show p.Gly43Asp	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	2/20	175/2184	128/1968	43/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7220519	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02451.hp1 HG02809.hp2 others(7): Show HG01243.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0033 a0003c0003t0001g0004 a0003c0003t0001g0033	10	398	0.0251	c.194 others(3): Show c.194C>T	p.Pro others(5): Show p.Pro65Leu	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	3/20	241/2184	194/1968	65/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7220796	A A	G G	missense_variant missense_variant	MODERATE	HG01993.hp2 HG02717.hp2 HG02970.hp2 others(2): Show HG01993.hp2 HG02717.hp2 HG02970.hp2 NA19030.hp2 NA19043.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0012 a0005c0006t0001g0016 a0005c0006t0001g0012 a0005c0006t0001g0016	5	398	0.0126	c.308 others(3): Show c.308A>G	p.Lys others(6): Show p.Lys103Arg	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	5/20	355/2184	308/1968	103/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7220933	G G	C C	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0002 a0011c0009t0001g0002	1	398	0.0025	c.352 others(3): Show c.352G>C	p.Asp others(6): Show p.Asp118His	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	6/20	399/2184	352/1968	118/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7222854	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0030 a0010c0013t0001g0030	1	398	0.0025	c.106 others(4): Show c.1066A>G	p.Ile others(6): Show p.Ile356Val	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	10/20	1113/2184	1066/1968	356/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7224355	G G	A A	missense_variant missense_variant	MODERATE	NA19060.hp2 NA19060.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0020 a0009c0010t0001g0020	1	398	0.0025	c.156 others(4): Show c.1567G>A	p.Gly others(6): Show p.Gly523Arg	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	16/20	1614/2184	1567/1968	523/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7224388	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp1 HG03098.hp2 HG02486.hp1 HG03098.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0022 a0006c0008t0001g0023 a0006c0008t0001g0022 a0006c0008t0001g0023	2	398	0.0050	c.160 others(4): Show c.1600G>A	p.Glu others(6): Show p.Glu534Lys	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	16/20	1647/2184	1600/1968	534/655	chr17	TogoVar
ACADVL_chr17_7214938_7230266	7224877	G G	C C	missense_variant missense_variant	MODERATE	NA18972.hp2 NA18972.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0029 a0008c0011t0001g0029	1	398	0.0025	c.182 others(4): Show c.1820G>C	p.Cys others(6): Show p.Cys607Ser	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	19/20	1867/2184	1820/1968	607/655	chr17	TogoVar
ACAN_chr15_88798436_88880353	88838675	C C	G G	missense_variant missense_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0144 a0144	a0144c0193 a0144c0193	a0144c0193t0001 a0144c0193t0001	a0144c0193t0001g0038 a0144c0193t0001g0038	1	368	0.0027	c.83C others(2): Show c.83C>G	p.Ser others(5): Show p.Ser28Trp	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	3/19	464/8960	83/7707	28/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88838705	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0052 a0052	a0052c0192 a0052c0192	a0052c0192t0001 a0052c0192t0001	a0052c0192t0001g0130 a0052c0192t0001g0130	1	368	0.0027	c.113 others(3): Show c.113C>T	p.Pro others(5): Show p.Pro38Leu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	3/19	494/8960	113/7707	38/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88838898	C C	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02109.hp1 HG02280.hp1 others(12): Show HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA21309.hp2	a0033 a0050 a0051 others(8): Show a0033 a0050 a0051 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143	a0033c0060 a0033c0061 a0033c0063 others(11): Show a0033c0060 a0033c0061 a0033c0063 a0050c0065 a0050c0066 a0051c0027 a0136c0064 a0137c0062 a0138c0057 a0139c0058 a0140c0059 a0141c0067 a0142c0068 a0143c0189	a0033c0060t0001 a0033c0061t0001 a0033c0063t0001 others(12): Show a0033c0060t0001 a0033c0061t0001 a0033c0063t0001 a0050c0065t0001 a0050c0066t0001 a0051c0027t0001 a0051c0027t0009 a0136c0064t0001 a0137c0062t0003 a0138c0057t0001 a0139c0058t0001 a0140c0059t0005 a0141c0067t0002 a0142c0068t0001 a0143c0189t0001	a0033c0060t0001g0209 a0033c0061t0001g0292 a0033c0063t0001g0210 others(12): Show a0033c0060t0001g0209 a0033c0061t0001g0292 a0033c0063t0001g0210 a0050c0065t0001g0007 a0050c0066t0001g0163 a0051c0027t0001g0010 a0051c0027t0009g0159 a0136c0064t0001g0296 a0137c0062t0003g0213 a0138c0057t0001g0290 a0139c0058t0001g0245 a0140c0059t0005g0298 a0141c0067t0002g0152 a0142c0068t0001g0207 a0143c0189t0001g0121	15	368	0.0408	c.306 others(3): Show c.306C>A	p.Asp others(6): Show p.Asp102Glu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	3/19	687/8960	306/7707	102/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88838950	G G	T T	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0053 a0053	a0053c0188 a0053c0188	a0053c0188t0001 a0053c0188t0001	a0053c0188t0001g0357 a0053c0188t0001g0357	1	368	0.0027	c.358 others(3): Show c.358G>T	p.Val others(6): Show p.Val120Phe	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	3/19	739/8960	358/7707	120/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88843417	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0135 a0135	a0135c0185 a0135c0185	a0135c0185t0001 a0135c0185t0001	a0135c0185t0001g0108 a0135c0185t0001g0108	1	368	0.0027	c.820 others(3): Show c.820C>T	p.Arg others(6): Show p.Arg274Trp	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	6/19	1201/8960	820/7707	274/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88843421	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00733.hp1 HG00733.hp2 others(23): Show HG00408.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01975.hp2 HG02027.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02738.hp1 HG03239.hp1 HG03669.hp2 HG03704.hp1 NA18963.hp2 NA18972.hp1 NA18984.hp2 NA18995.hp2 NA20805.hp1	a0006 a0019 a0034 others(9): Show a0006 a0019 a0034 a0035 a0036 a0054 a0055 a0056 a0057 a0058 a0059 a0060	a0006c0008 a0006c0017 a0019c0018 others(11): Show a0006c0008 a0006c0017 a0019c0018 a0034c0028 a0035c0073 a0035c0074 a0036c0029 a0054c0076 a0055c0072 a0056c0075 a0057c0070 a0058c0071 a0059c0077 a0060c0078	a0006c0008t0001 a0006c0017t0001 a0019c0018t0001 others(11): Show a0006c0008t0001 a0006c0017t0001 a0019c0018t0001 a0034c0028t0001 a0035c0073t0001 a0035c0074t0001 a0036c0029t0001 a0054c0076t0001 a0055c0072t0001 a0056c0075t0001 a0057c0070t0012 a0058c0071t0001 a0059c0077t0001 a0060c0078t0001	a0006c0008t0001g0012 a0006c0008t0001g0024 a0006c0008t0001g0088 others(22): Show a0006c0008t0001g0012 a0006c0008t0001g0024 a0006c0008t0001g0088 a0006c0008t0001g0111 a0006c0008t0001g0166 a0006c0008t0001g0250 a0006c0008t0001g0354 a0006c0017t0001g0093 a0006c0017t0001g0275 a0006c0017t0001g0276 a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 a0034c0028t0001g0064 a0034c0028t0001g0194 a0035c0073t0001g0068 a0035c0074t0001g0356 a0036c0029t0001g0001 a0054c0076t0001g0361 a0055c0072t0001g0283 a0056c0075t0001g0248 a0057c0070t0012g0228 a0058c0071t0001g0221 a0059c0077t0001g0362 a0060c0078t0001g0085	26	368	0.0707	c.824 others(3): Show c.824G>A	p.Arg others(6): Show p.Arg275Gln	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	6/19	1205/8960	824/7707	275/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88845636	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp2 NA18982.hp2 HG00609.hp2 NA18982.hp2	a0133 a0134 a0133 a0134	a0133c0079 a0134c0080 a0133c0079 a0134c0080	a0133c0079t0001 a0134c0080t0001 a0133c0079t0001 a0134c0080t0001	a0133c0079t0001g0212 a0134c0080t0001g0115 a0133c0079t0001g0212 a0134c0080t0001g0115	2	368	0.0054	c.118 others(4): Show c.1183G>A	p.Gly others(6): Show p.Gly395Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	7/19	1564/8960	1183/7707	395/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88845663	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG03688.hp2 HG04184.hp2 others(3): Show HG00408.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2	a0032 a0060 a0132 others(1): Show a0032 a0060 a0132 a0143	a0032c0182 a0032c0184 a0032c0191 others(3): Show a0032c0182 a0032c0184 a0032c0191 a0060c0078 a0132c0183 a0143c0189	a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 others(3): Show a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0060c0078t0001 a0132c0183t0001 a0143c0189t0001	a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 others(3): Show a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0060c0078t0001g0085 a0132c0183t0001g0328 a0143c0189t0001g0121	6	368	0.0163	c.121 others(4): Show c.1210A>G	p.Ile others(6): Show p.Ile404Val	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	7/19	1591/8960	1210/7707	404/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88845672	G G	T T	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0061 a0061	a0061c0181 a0061c0181	a0061c0181t0004 a0061c0181t0004	a0061c0181t0004g0344 a0061c0181t0004g0344	1	368	0.0027	c.121 others(4): Show c.1219G>T	p.Val others(6): Show p.Val407Phe	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	7/19	1600/8960	1219/7707	407/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88847248	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02056.hp1	a0062 a0062	a0062c0081 a0062c0081	a0062c0081t0001 a0062c0081t0001	a0062c0081t0001g0060 a0062c0081t0001g0060	1	368	0.0027	c.143 others(4): Show c.1435G>A	p.Val others(6): Show p.Val479Ile	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	8/19	1816/8960	1435/7707	479/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88847282	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG03654.hp1 HG03831.hp2 HG00738.hp2 HG03654.hp1 HG03831.hp2	a0037 a0063 a0037 a0063	a0037c0054 a0063c0180 a0037c0054 a0063c0180	a0037c0054t0001 a0063c0180t0001 a0037c0054t0001 a0063c0180t0001	a0037c0054t0001g0313 a0037c0054t0001g0326 a0063c0180t0001g0359 a0037c0054t0001g0313 a0037c0054t0001g0326 a0063c0180t0001g0359	3	368	0.0082	c.146 others(4): Show c.1469C>T	p.Ser others(6): Show p.Ser490Leu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	8/19	1850/8960	1469/7707	490/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88847303	A A	T T	missense_variant missense_variant	MODERATE	NA18980.hp2 NA19005.hp2 NA18980.hp2 NA19005.hp2	a0038 a0038	a0038c0055 a0038c0055	a0038c0055t0001 a0038c0055t0001	a0038c0055t0001g0043 a0038c0055t0001g0050 a0038c0055t0001g0043 a0038c0055t0001g0050	2	368	0.0054	c.149 others(4): Show c.1490A>T	p.Gln others(6): Show p.Gln497Leu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	8/19	1871/8960	1490/7707	497/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88847317	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 NA19082.hp2 HG02015.hp1 NA19082.hp2	a0039 a0039	a0039c0052 a0039c0052	a0039c0052t0001 a0039c0052t0001	a0039c0052t0001g0091 a0039c0052t0001g0197 a0039c0052t0001g0091 a0039c0052t0001g0197	2	368	0.0054	c.150 others(4): Show c.1504C>T	p.Arg others(6): Show p.Arg502Cys	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	8/19	1885/8960	1504/7707	502/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88847318	G G	C C	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0064 a0064	a0064c0082 a0064c0082	a0064c0082t0001 a0064c0082t0001	a0064c0082t0001g0109 a0064c0082t0001g0109	1	368	0.0027	c.150 others(4): Show c.1505G>C	p.Arg others(6): Show p.Arg502Pro	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	8/19	1886/8960	1505/7707	502/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88847402	G G	A A	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02165.hp1 HG02027.hp1 HG02165.hp1	a0034 a0034	a0034c0028 a0034c0028	a0034c0028t0001 a0034c0028t0001	a0034c0028t0001g0064 a0034c0028t0001g0194 a0034c0028t0001g0064 a0034c0028t0001g0194	2	368	0.0054	c.158 others(4): Show c.1589G>A	p.Arg others(6): Show p.Arg530Gln	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	8/19	1970/8960	1589/7707	530/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88849458	C C	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG03688.hp2 HG04184.hp2 others(3): Show HG00408.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2	a0032 a0060 a0132 others(1): Show a0032 a0060 a0132 a0143	a0032c0182 a0032c0184 a0032c0191 others(3): Show a0032c0182 a0032c0184 a0032c0191 a0060c0078 a0132c0183 a0143c0189	a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 others(3): Show a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0060c0078t0001 a0132c0183t0001 a0143c0189t0001	a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 others(3): Show a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0060c0078t0001g0085 a0132c0183t0001g0328 a0143c0189t0001g0121	6	368	0.0163	c.175 others(4): Show c.1753C>A	p.Arg others(6): Show p.Arg585Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	10/19	2134/8960	1753/7707	585/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88849555	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.185 others(4): Show c.1850G>A	p.Arg others(6): Show p.Arg617His	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	10/19	2231/8960	1850/7707	617/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88849587	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG03688.hp2 HG04184.hp2 others(3): Show HG00408.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2	a0032 a0060 a0132 others(1): Show a0032 a0060 a0132 a0143	a0032c0182 a0032c0184 a0032c0191 others(3): Show a0032c0182 a0032c0184 a0032c0191 a0060c0078 a0132c0183 a0143c0189	a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 others(3): Show a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0060c0078t0001 a0132c0183t0001 a0143c0189t0001	a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 others(3): Show a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0060c0078t0001g0085 a0132c0183t0001g0328 a0143c0189t0001g0121	6	368	0.0163	c.188 others(4): Show c.1882G>A	p.Ala others(6): Show p.Ala628Thr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	10/19	2263/8960	1882/7707	628/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88849708	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02055.hp1 HG02280.hp1 others(3): Show HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02647.hp1 HG03453.hp2 HG03516.hp2	a0040 a0050 a0068 others(1): Show a0040 a0050 a0068 a0136	a0040c0041 a0050c0065 a0050c0066 others(2): Show a0040c0041 a0050c0065 a0050c0066 a0068c0134 a0136c0064	a0040c0041t0001 a0050c0065t0001 a0050c0066t0001 others(2): Show a0040c0041t0001 a0050c0065t0001 a0050c0066t0001 a0068c0134t0013 a0136c0064t0001	a0040c0041t0001g0316 a0040c0041t0001g0317 a0050c0065t0001g0007 others(3): Show a0040c0041t0001g0316 a0040c0041t0001g0317 a0050c0065t0001g0007 a0050c0066t0001g0163 a0068c0134t0013g0280 a0136c0064t0001g0296	6	368	0.0163	c.200 others(4): Show c.2003G>A	p.Arg others(6): Show p.Arg668Gln	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	10/19	2384/8960	2003/7707	668/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88851889	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0142 a0142	a0142c0068 a0142c0068	a0142c0068t0001 a0142c0068t0001	a0142c0068t0001g0207 a0142c0068t0001g0207	1	368	0.0027	c.212 others(4): Show c.2122G>A	p.Gly others(6): Show p.Gly708Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	11/19	2503/8960	2122/7707	708/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88851985	A A	T T	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0069 a0069	a0069c0168 a0069c0168	a0069c0168t0001 a0069c0168t0001	a0069c0168t0001g0266 a0069c0168t0001g0266	1	368	0.0027	c.221 others(4): Show c.2218A>T	p.Thr others(6): Show p.Thr740Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	11/19	2599/8960	2218/7707	740/2568	chr15	TogoVar
ACAN_chr15_88798436_88880353	88854975	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0142 a0142	a0142c0068 a0142c0068	a0142c0068t0001 a0142c0068t0001	a0142c0068t0001g0207 a0142c0068t0001g0207	1	368	0.0027	c.239 others(4): Show c.2390A>G	p.Glu others(6): Show p.Glu797Gly	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	2771/8960	2390/7707	797/2568	chr15	TogoVar

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